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	A	T	G	C	Cg	cG	tCw	wGa	tCa	tGa	tCt	aGa	tC	Ga	tCh	dGa	cC	Gg	wrC	Gyw	Cc	gG	wA	Tw	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	a_counts	t_counts	g_counts	c_counts	cg_counts	tcw_counts	wga_counts	tca_counts	tga_counts	tct_counts	aga_counts	tc_counts	ga_counts	tch_counts	dga_counts	cc_counts	gg_counts	wrc_counts	gyw_counts	cc_counts	gg_counts	wa_counts	tw_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_CAF	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_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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	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
KCNN2	3781	genome.wustl.edu	37	chr5	113698628	113698628	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcctccccgtctgcagcCgctgccgccgccgccgctgt	1	7	12	21	7	1	0	0	0	1	0	3	0	3	0	8	0	3	3	8	0	0	0			TCGA-3G-AB0O-01A-22D-A423-09	TCGA-3G-AB0O-11A-31D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3b2eeb9-85d3-4041-bc3e-570d8b3fa2f2	e078ce0f-d012-456b-8c5e-378ea096f725	g.chr5:113698628C>T	ENST00000512097.3	+	2	1174	c.156C>T	c.(154-156)gcC>gcT	p.A52A	KCNN2_ENST00000264773.3_Silent_p.A52A			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	52	Poly-Ala.			A -> D (in Ref. 1; AAG16728). {ECO:0000305}.	potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CGTCTGCAGCCGCTGCCGCCG	0.697																																							0											0													7	8	7					5																	113698628		2082	4094	6176	SO:0001819	synonymous_variant	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.156C>T	5.37:g.113698628C>T			A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	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.A52	ENST00000512097.3	37	c.156	CCDS4114.1	5																																																																																			0	NULL		0.697	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	protein_coding	OTTHUMT00000250775.2	26	29	0	0.00	0	0	C	NM_021614	0	0		113698628	1	no_errors	ENST00000264773	ensembl	human	known	74_37	silent	12	6	25	0.00	4	0	SNP	0.001	T	T	113698628	C	T	113698628	2	4	1	1	0	0	0	0	0	0	0	1	8079	639	23	2		2	KCNN2	5	113698628	Silent	SNP	C	TCGA-3G-AB0O-01A-22D-A423-09		113698628	67216632	1	1											
TMEM63B	55362	genome.wustl.edu	37	chr6	44119717	44119718	+	Frame_Shift_Del	DEL	CG	CG	-																															ccggctctgcctggcgcgctCggccgccgagaggcgcaacg																										TCGA-3G-AB0O-01A-22D-A423-09	TCGA-3G-AB0O-11A-31D-A426-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3b2eeb9-85d3-4041-bc3e-570d8b3fa2f2	e078ce0f-d012-456b-8c5e-378ea096f725	g.chr6:44119717_44119718delCG	ENST00000259746.9	+	19	1991_1992	c.1808_1809delCG	c.(1807-1809)tcgfs	p.S603fs	TMEM63B_ENST00000323267.6_Frame_Shift_Del_p.S603fs			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	603					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)			CTGGCGCGCTCGGCCGCCGAGA	0.668											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0																																										SO:0001589	frameshift_variant	0			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.1808_1809delCG	6.37:g.44119717_44119718delCG	ENSP00000259746:p.Ser603fs	921	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Frame_Shift_Del	DEL	pfam_DUF221	p.S603fs	ENST00000259746.9	37	c.1808_1809	CCDS34461.1	6																																																																																			0	pfam_DUF221		0.668	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	protein_coding	OTTHUMT00000040712.2	21	21	0	0.00	0	0	CG	XM_166410	0	0		44119718	1	no_errors	ENST00000259746	ensembl	human	known	74_37	frame_shift_del	3	10	40	0.00	2	0	DEL	1.000:0.107	0	-	44119718	CG	-	44119717	7	5	1	1	0	1	0	1	0	0	0	0	16188	893	31	0	1878	0	TMEM63B	6	44119717	Frame_Shift_Del	DEL	CG	TCGA-3G-AB0O-01A-22D-A423-09		44119717	126995350	2	2											
LOC100132247	100132247	genome.wustl.edu	37	chr16	22545618	22545629	+	In_Frame_Del	DEL	TCCACCCTCAGC	TCCACCCTCAGC	-																															gagcgtcagctcactcccctTccaccctcagctccaccctc																								rs375731759		TCGA-3G-AB0O-01A-22D-A423-09	TCGA-3G-AB0O-11A-31D-A426-09	TCCACCCTCAGC	TCCACCCTCAGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3b2eeb9-85d3-4041-bc3e-570d8b3fa2f2	e078ce0f-d012-456b-8c5e-378ea096f725	g.chr16:22545618_22545629delTCCACCCTCAGC	ENST00000517539.1	+	8	1389_1400	c.1314_1325delTCCACCCTCAGC	c.(1312-1326)cttccaccctcagct>ctt	p.PPSA443del	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_In_Frame_Del_p.PPSA443del			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	443	Pro-rich.					integral component of membrane (GO:0016021)											TCACTCCCCTTCCACCCTCAGCTCCACCCTCA	0.571																																							0											0										8,96		4,0,48							0			1	12,252		6,0,126	no	coding	LOC100132247	NM_001135865.1		10,0,174	A1A1,A1R,RR		4.5455,7.6923,5.4348				20,348				SO:0001651	inframe_deletion	0				CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1314_1325delTCCACCCTCAGC	16.37:g.22545618_22545629delTCCACCCTCAGC	ENSP00000430633:p.Pro443_Ala446del		B4DK13	In_Frame_Del	DEL	NULL	p.APPS442in_frame_del	ENST00000517539.1	37	c.1314_1325	CCDS45443.1	16																																																																																			0	NULL		0.571	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NPIPB5	protein_coding	OTTHUMT00000374343.2	13	0	0	0.00	0	0	TCCACCCTCAGC	NM_001135865	rs375731759	TTCCACCCTCAGC->T		22545629	1	no_errors	ENST00000424340	ensembl	human	known	74_37	in_frame_del	16	0	38.46	0.00	10	0	DEL	0.997:0.996:0.997:0.997:0.997:0.998:0.998:0.998:0.998:0.997:0.995:0.995	0	-	22545629	TCCACCCTCAGC	-	22545618	7	5	1	1	0	1	0	1	0	0	0	0	8868	1770	62	0	1340	0	LOC100132247	16	22545618	In_Frame_Del	DEL	TCCACCCTCAGC	TCGA-3G-AB0O-01A-22D-A423-09		22545618	67809135	3	3											
MBD2	8932	genome.wustl.edu	37	chr18	51750584	51750585	+	In_Frame_Ins	INS	-	-	GCC																															ggggcgccgccgccaccgctINSgccgccgccgccgcagccgc																										TCGA-3G-AB0O-01A-22D-A423-09	TCGA-3G-AB0O-11A-31D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3b2eeb9-85d3-4041-bc3e-570d8b3fa2f2	e078ce0f-d012-456b-8c5e-378ea096f725	g.chr18:51750584_51750585insGCC	ENST00000256429.3	-	1	573_574	c.345_346insGGC	c.(343-348)ggcagc>ggcGGCagc	p.115_116insG	MBD2_ENST00000583046.1_In_Frame_Ins_p.115_116insG|SNORA37_ENST00000384504.1_RNA|MBD2_ENST00000398398.2_In_Frame_Ins_p.115_116insG	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	115	Gly-rich.|Necessary for interaction with DHX9.				ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		ccgccaccgctgccgccgccgc	0.861																																							0											0																																										SO:0001652	inframe_insertion	0			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.343_345dupGGC	18.37:g.51750591_51750593dupGCC	ENSP00000256429:p.Gly119_Gly120dup		O95242|Q9UIS8	In_Frame_Ins	INS	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.115in_frame_insG	ENST00000256429.3	37	c.346_345	CCDS11953.1	18																																																																																			0	NULL		0.861	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD2	protein_coding	OTTHUMT00000256003.2	8	0	0	0.00	0	0	0	NM_003927	0	0		51750585	-1	no_errors	ENST00000256429	ensembl	human	known	74_37	in_frame_ins	3	0	50	0.00	3	0	INS	0.957:0.926	GCC	GCC	51750585	-	GCC	51750584	7	5	1	1	0	1	1	0	0	0	0	0	9343	1580	55	0	1124	0	MBD2	18	51750584	In_Frame_Ins	INS	-	TCGA-3G-AB0O-01A-22D-A423-09		51750584	26326664	4	4											
RASL10A	10633	genome.wustl.edu	37	chr22	29709353	29709354	+	Frame_Shift_Del	DEL	GC	GC	-																															cgcagggccgggtgtgcaggGcgcgcgcgcaccagagcgca																										TCGA-3G-AB0O-01A-22D-A423-09	TCGA-3G-AB0O-11A-31D-A426-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e3b2eeb9-85d3-4041-bc3e-570d8b3fa2f2	e078ce0f-d012-456b-8c5e-378ea096f725	g.chr22:29709353_29709354delGC	ENST00000216101.6	-	3	1057_1058	c.548_549delGC	c.(547-549)cgcfs	p.R183fs	RASL10A_ENST00000608559.1_5'Flank|RASL10A_ENST00000401450.3_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	183	Small GTPase-like.				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						GGTGTGCAGGGCGCGCGCGCAC	0.708																																							0											0																																										SO:0001589	frameshift_variant	0			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	ENST00000216101.6:c.548_549delGC	22.37:g.29709361_29709362delGC	ENSP00000216101:p.Arg183fs		Q49AU5|Q6PI03	Frame_Shift_Del	DEL	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	p.R183fs	ENST00000216101.6	37	c.549_548	CCDS13854.1	22																																																																																			0	NULL		0.708	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL10A	protein_coding	OTTHUMT00000321342.1	22	5	0	0.00	0	0	GC		0	0		29709354	-1	no_errors	ENST00000216101	ensembl	human	known	74_37	frame_shift_del	19	9	9.52	0.00	2	0	DEL	0.996:0.997	0	-	29709354	GC	-	29709353	7	5	1	1	0	1	0	1	0	0	0	0	13079	1190	42	0	66	0	RASL10A	22	29709353	Frame_Shift_Del	DEL	GC	TCGA-3G-AB0O-01A-22D-A423-09		29709353	21595213	5	5											
DNAJC27	51277	genome.wustl.edu	37	chr2	25174396	25174396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttcccgccattttcacAtaaatcaactatggatatat	12	14	5	10	2	2	0	2	0	0	0	3	1	3	1	2	1	1	1	2	1	6	7			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr2:25174396A>G	ENST00000264711.2	-	6	745	c.556T>C	c.(556-558)Tgt>Cgt	p.C186R	DNAJC27_ENST00000534855.1_Missense_Mutation_p.C115R	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	186					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCATTTTCACATAAATCAACT	0.368																																							0											0													72	73	73					2																	25174396		2203	4300	6503	SO:0001583	missense	0				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"Heat shock proteins / DNAJ (HSP40)"	30290	protein-coding gene	gene with protein product		613527	"rab and DnaJ domain containing"	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.556T>C	2.37:g.25174396A>G	ENSP00000264711:p.Cys186Arg		Q5JV88|Q86Y24	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_domain,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_DnaJ_domain,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_Small_GTPase,prints_DnaJ_domain,tigrfam_Small_GTP-bd_dom	p.C186R	ENST00000264711.2	37	c.556	CCDS1716.1	2	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599523	0.87055	.	.	ENSG00000115137	ENST00000264711;ENST00000534855	T;T	0.20598	2.06;2.06	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	L	0.50333	1.59	0.80722	D	1	P	0.51351	0.944	B	0.40165	0.321	T	0.02098	-1.1214	10	0.72032	D	0.01	-15.8812	15.2006	0.73132	1.0:0.0:0.0:0.0	.	186	Q9NZQ0	DJC27_HUMAN	R	186;115	ENSP00000264711:C186R;ENSP00000440086:C115R	ENSP00000264711:C186R	C	-	1	0	DNAJC27	25027900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.103000	0.94232	2.263000	0.75096	0.533000	0.62120	TGT	0	superfamily_P-loop_NTPase,smart_Ran_GTPase		0.368	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	protein_coding	OTTHUMT00000246855.3	92	182	0	0.00	0	0	A	NM_016544	0	0		25174396	-1	no_errors	ENST00000264711	ensembl	human	known	74_37	missense	94	170	22.31	24.11	27	54	SNP	1	G	G	25174396	A	G	25174396	3	3	2	1	0	0	0	0	1	0	0	0	4645	217	8	3	273	3	DNAJC27	2	25174396	Missense_Mutation	SNP	A	TCGA-3G-AB0Q-01A-11D-A423-09		25174396	218024977	1	6											
SF3B1	23451	genome.wustl.edu	37	chr2	198273163	198273163	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggtcagaactggagtGcttccacccatctgactagc	9	8	11	13	0	2	2	1	1	1	1	3	3	3	3	3	3	3	1	3	3	2	2			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr2:198273163G>A	ENST00000335508.6	-	8	1138	c.1047C>T	c.(1045-1047)agC>agT	p.S349S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	349	Interaction with PPP1R8.				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)			GAACTGGAGTGCTTCCACCCA	0.488			Mis		myelodysplastic syndrome																																		0		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0													123	118	120					2																	198273163		2203	4300	6503	SO:0001819	synonymous_variant	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1047C>T	2.37:g.198273163G>A			E9PCH3	Silent	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.S349	ENST00000335508.6	37	c.1047	CCDS33356.1	2																																																																																			0	pfam_SF3b_su1		0.488	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	protein_coding	OTTHUMT00000335245.2	86	253	0	0.00	0	0	G		0	0		198273163	-1	no_errors	ENST00000335508	ensembl	human	known	74_37	silent	36	129	43.75	36.76	28	75	SNP	1	A	A	198273163	G	A	198273163	2	1	2	1	0	0	0	0	0	0	0	1	14149	1310	46	3		3	SF3B1	2	198273163	Silent	SNP	G	TCGA-3G-AB0Q-01A-11D-A423-09	173098767	198273163	44926210	2	7											
RUNX2	860	genome.wustl.edu	37	chr6	45390446	45390448	+	In_Frame_Del	DEL	CAG	CAG	-																															agcaacagcagcagcagcaaCagcagcagcagcagcagcaa																										TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr6:45390446_45390448delCAG	ENST00000371438.1	+	2	533_535	c.175_177delCAG	c.(175-177)cagdel	p.Q71del	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				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						gcagcagcaacagcagcagcagc	0.729																																							0											0																																										SO:0001651	inframe_deletion	0			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.175_177delCAG	6.37:g.45390455_45390457delCAG	ENSP00000360493:p.Gln71del		O14614|O14615|O95181	In_Frame_Del	DEL	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	p.Q130in_frame_del	ENST00000371438.1	37	c.379_381	CCDS43467.2	6																																																																																			0	NULL		0.729	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	protein_coding	OTTHUMT00000040755.2	77	7	0	0.00	0	0	CAG	NM_004348	0	0		45390448	1	no_errors	ENST00000352853	ensembl	human	known	74_37	in_frame_del	50	2	9.09	0.00	5	0	DEL	0.995:0.993:0.990	0	-	45390448	CAG	-	45390446	7	5	2	1	0	1	0	1	0	0	0	0	13748	479	17	0	197	0	RUNX2	6	45390446	In_Frame_Del	DEL	CAG	TCGA-3G-AB0Q-01A-11D-A423-09		45390446	125724621	3	8											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	298	122	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	208	80	40.57	35.48	142	44	SNP	1	A	A	74146970	T	A	74146970	3	1	2	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-3G-AB0Q-01A-11D-A423-09		74146970	84991693	4	9											
FAM40B	57464	genome.wustl.edu	37	chr7	129098231	129098231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctccaccctcacaggCacccctctctgctgagcggg	6	6	9	20	1	2	1	1	1	1	0	4	1	3	1	6	2	2	2	6	2	0	0			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr7:129098231C>A	ENST00000249344.2	+	10	1254	c.1214C>A	c.(1213-1215)gCa>gAa	p.A405E	STRIP2_ENST00000435494.2_Missense_Mutation_p.A405E	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	405					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											CCCTCACAGGCACCCCTCTCT	0.602																																							0											0													44	41	42					7																	129098231		2203	4300	6503	SO:0001583	missense	0			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1214C>A	7.37:g.129098231C>A	ENSP00000249344:p.Ala405Glu		Q8WUZ4	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.A405E	ENST00000249344.2	37	c.1214	CCDS34752.1	7	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317895	0.23994	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.42513	0.97;0.97	5.37	3.48	0.39840	.	0.732884	0.13648	N	0.372517	T	0.25717	0.0626	N	0.08118	0	0.25358	N	0.988808	B;B	0.11235	0.004;0.0	B;B	0.13407	0.009;0.0	T	0.15122	-1.0448	10	0.29301	T	0.29	0.511	14.6531	0.68811	0.0:0.7227:0.2773:0.0	.	405;405	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	E	405	ENSP00000249344:A405E;ENSP00000392393:A405E	ENSP00000249344:A405E	A	+	2	0	FAM40B	128885467	1.000000	0.71417	0.955000	0.39395	0.973000	0.67179	3.108000	0.50337	0.679000	0.31345	0.655000	0.94253	GCA	0	NULL		0.602	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP2	protein_coding	OTTHUMT00000349418.1	46	126	0	0.00	0	0	C	NM_001134336	0	0		129098231	1	no_errors	ENST00000249344	ensembl	human	known	74_37	missense	24	64	41.46	35.64	17	36	SNP	0.998	A	A	129098231	C	A	129098231	3	1	2	1	0	0	0	0	1	0	0	0	5561	710	25	5	1252	5	FAM40B	7	129098231	Missense_Mutation	SNP	C	TCGA-3G-AB0Q-01A-11D-A423-09	54951261	129098231	30040432	5	10											
FOXD4L5	653427	genome.wustl.edu	37	chr9	70177486	70177486	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcgcgggggatcttaacGaagcagtcgttcagcgagag	9	7	16	9	5	2	1	1	0	1	1	4	4	2	2	0	3	3	3	0	3	2	2	rs199726212	byFrequency	TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr9:70177486G>A	ENST00000377420.1	-	1	1329	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	166					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						GGATCTTAACGAAGCAGTCGT	0.627																																							0											0													1	1	1					9																	70177486		1	16	17	SO:0001819	synonymous_variant	0				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.498C>T	9.37:g.70177486G>A				Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F166	ENST00000377420.1	37	c.498	CCDS47977.1	9																																																																																			0	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.627	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L5	protein_coding	OTTHUMT00000037122.1	20	0	4.76	0.00	1	0	G	NM_001126334	rs199726212	G->A		70177486	-1	no_errors	ENST00000377420	ensembl	human	known	74_37	silent	13	0	35	0.00	7	0	SNP	1	A	A	70177486	G	A	70177486	2	1	2	1	0	0	0	0	0	0	0	1	6002	1049	37	2		2	FOXD4L5	9	70177486	Silent	SNP	G	TCGA-3G-AB0Q-01A-11D-A423-09		70177486	71035945	6	11											
C10orf90	118611	genome.wustl.edu	37	chr10	128149995	128149995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcaaagatcttgcaggcGtttgctgagactcagaacag	12	9	12	8	1	3	3	2	1	1	3	3	4	3	3	0	2	3	3	0	2	2	2	rs375267781		TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr10:128149995G>A	ENST00000284694.7	-	5	1814	c.1694C>T	c.(1693-1695)aCg>aTg	p.T565M	C10orf90_ENST00000544758.1_Missense_Mutation_p.T662M|C10orf90_ENST00000480379.1_De_novo_Start_InFrame|C10orf90_ENST00000454341.1_Missense_Mutation_p.T468M|C10orf90_ENST00000356858.3_Missense_Mutation_p.T518M	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	565					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)		TCTTGCAGGCGTTTGCTGAGA	0.592																																							0											0								A	MET/THR	0,4406		0,0,2203	76	73	74		1694	-4.3	0	10		74	5,8595	4.3+/-15.6	0,5,4295	no	missense	C10orf90	NM_001004298.2	81	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign	565/700	128149995	5,13001	2203	4300	6503	SO:0001583	missense	0			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.1694C>T	10.37:g.128149995G>A	ENSP00000284694:p.Thr565Met		B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.T662M	ENST00000284694.7	37	c.1985	CCDS31310.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.903|5.903	0.350693|0.350693	0.11182|0.11182	0.0|0.0	5.81E-4|5.81E-4	ENSG00000154493|ENSG00000154493	ENST00000424927|ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	.|T;T;T;T	.|0.18657	.|2.21;2.2;2.21;2.23	5.01|5.01	-4.29|-4.29	0.03721|0.03721	.|.	.|1.916440	.|0.02445	.|N	.|0.085007	T|T	0.07683|0.07683	0.0193|0.0193	N|N	0.01482|0.01482	-0.84|-0.84	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.13145	.|0.007;0.007;0.007	.|B;B;B	.|0.10450	.|0.002;0.005;0.005	T|T	0.27400|0.27400	-1.0075|-1.0075	5|10	.|0.26408	.|T	.|0.33	1.3857|1.3857	7.6243|7.6243	0.28204|0.28204	0.4959:0.1999:0.3042:0.0|0.4959:0.1999:0.3042:0.0	.|.	.|662;565;468	.|F5GZL2;Q96M02;Q96M02-2	.|.;CJ090_HUMAN;.	C|M	108|518;565;468;662;565	.|ENSP00000284694:T565M;ENSP00000398786:T468M;ENSP00000444369:T662M;ENSP00000405995:T565M	.|ENSP00000284694:T565M	R|T	-|-	1|2	0|0	C10orf90|C10orf90	128139985|128139985	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.254000|-2.254000	0.01183|0.01183	-1.097000|-1.097000	0.03042|0.03042	-2.271000|-2.271000	0.00274|0.00274	CGC|ACG	0	NULL		0.592	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	protein_coding		90	148	0	0.67	0	1	G	NM_001004298	rs375267781	G->A		128149995	-1	no_errors	ENST00000544758	ensembl	human	known	74_37	missense	51	66	42.7	40.54	38	45	SNP	0	A	A	128149995	G	A	128149995	3	1	2	1	0	0	0	0	1	0	0	0	1623	1145	40	1	425	1	C10orf90	10	128149995	Missense_Mutation	SNP	G	TCGA-3G-AB0Q-01A-11D-A423-09		128149995	7384752	7	12											
RDH5	5959	genome.wustl.edu	37	chr12	56115574	56115574	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtgctgaatgtgaacacaAtgggtcccatcggggtcacc	9	8	14	10	1	1	2	1	2	0	0	3	2	2	2	2	4	2	1	2	4	3	0			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr12:56115574A>G	ENST00000257895.5	+	3	564	c.412A>G	c.(412-414)Atg>Gtg	p.M138V	RDH5_ENST00000547072.1_Missense_Mutation_p.M41V|RP11-644F5.10_ENST00000550412.1_3'UTR|RP11-644F5.10_ENST00000549424.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.M138V|RDH5_ENST00000553160.1_Intron	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	138					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	TGTGAACACAATGGGTCCCAT	0.607																																							0											0													51	48	49					12																	56115574		2203	4300	6503	SO:0001583	missense	0			U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	9940	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 5"	601617	"retinol dehydrogenase 5 (11-cis and 9-cis)"	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.412A>G	12.37:g.56115574A>G	ENSP00000257895:p.Met138Val		O00179|Q8TAI2	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.M138V	ENST00000257895.5	37	c.412	CCDS31829.1	12	.	.	.	.	.	.	.	.	.	.	A	3.767	-0.048324	0.07407	.	.	ENSG00000135437	ENST00000547072;ENST00000552930;ENST00000257895;ENST00000548082	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.36	-4.8	0.03190	NAD(P)-binding domain (1);	0.675505	0.15310	N	0.269132	T	0.71913	0.3396	N	0.02334	-0.595	0.09310	N	1	B	0.14012	0.009	B	0.18263	0.021	T	0.62618	-0.6816	10	0.44086	T	0.13	.	0.9125	0.01298	0.1676:0.2072:0.2145:0.4106	.	138	Q92781	RDH1_HUMAN	V	41;41;138;138	ENSP00000449927:M41V;ENSP00000448014:M41V;ENSP00000257895:M138V;ENSP00000447128:M138V	ENSP00000257895:M138V	M	+	1	0	RDH5	54401841	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-1.952000	0.01528	-1.264000	0.02452	-1.740000	0.00687	ATG	0	pfam_DH_sc/Rdtase_SDR,prints_DHB_DH		0.607	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH5	protein_coding	OTTHUMT00000407493.1	141	90	0	0.00	0	0	A	NM_002905	0	0		56115574	1	no_errors	ENST00000257895	ensembl	human	known	74_37	missense	69	56	39.47	29.11	45	23	SNP	0.003	G	G	56115574	A	G	56115574	3	3	2	1	0	0	0	0	1	0	0	0	13195	101	4	3	418	3	RDH5	12	56115574	Missense_Mutation	SNP	A	TCGA-3G-AB0Q-01A-11D-A423-09		56115574	77736321	8	13											
ABCC4	10257	genome.wustl.edu	37	chr13	95696021	95696021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaatttctcccggatttttTtttgtattaactcatcagtt	9	20	4	8	1	3	0	2	0	1	0	4	1	3	1	1	1	1	2	1	1	3	8			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr13:95696021T>C	ENST00000376887.4	-	29	3764	c.3650A>G	c.(3649-3651)aAa>aGa	p.K1217R	ABCC4_ENST00000412704.1_Missense_Mutation_p.K1170R	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1217	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CCGGATTTTTTTTTGTATTAA	0.363																																							0											0													96	96	96					13																	95696021		2203	4300	6503	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3650A>G	13.37:g.95696021T>C	ENSP00000366084:p.Lys1217Arg		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	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,prints_CysFib_conduc_TM	p.K1217R	ENST00000376887.4	37	c.3650	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	T	16.63	3.178042	0.57692	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	T;T	0.77750	-1.12;-1.12	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.198585	0.51477	D	0.000093	T	0.73071	0.3540	L	0.31207	0.915	0.80722	D	1	B;B	0.32781	0.009;0.384	B;B	0.40864	0.055;0.342	T	0.69986	-0.4996	10	0.27082	T	0.32	.	16.1668	0.81768	0.0:0.0:0.0:1.0	.	1170;1217	O15439-2;O15439	.;MRP4_HUMAN	R	1170;1217	ENSP00000388657:K1170R;ENSP00000366084:K1217R	ENSP00000366084:K1217R	K	-	2	0	ABCC4	94494022	1.000000	0.71417	0.037000	0.18230	0.971000	0.66376	5.955000	0.70306	2.210000	0.71456	0.533000	0.62120	AAA	0	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.363	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	protein_coding	OTTHUMT00000045478.2	54	176	0	0.00	0	0	T	NM_005845	0	0		95696021	-1	no_errors	ENST00000376887	ensembl	human	known	74_37	missense	39	94	35	44.05	21	74	SNP	0.954	C	C	95696021	T	C	95696021	3	2	2	1	0	0	0	0	1	0	0	0	55	1841	64	3	339	3	ABCC4	13	95696021	Missense_Mutation	SNP	T	TCGA-3G-AB0Q-01A-11D-A423-09		95696021	19473857	9	14											
NDN	4692	genome.wustl.edu	37	chr15	23932210	23932210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggcggcgcggcctgcGgagcggccgtcgggcctaga	4	3	22	12	7	0	1	0	0	0	1	1	3	0	3	3	8	2	0	3	8	1	1			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr15:23932210G>A	ENST00000331837.4	-	1	240	c.155C>T	c.(154-156)cCg>cTg	p.P52L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	52					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)		CGCGGCCTGCGGAGCGGCCGT	0.761									Prader-Willi syndrome																														0											0													4	6	5					15																	23932210		1468	2838	4306	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	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.155C>T	15.37:g.23932210G>A	ENSP00000332643:p.Pro52Leu		B2R6Z5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P52L	ENST00000331837.4	37	c.155	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	G	12.24	1.880072	0.33162	.	.	ENSG00000182636	ENST00000331837	T	0.02301	4.35	3.32	1.26	0.21427	.	0.000000	0.45606	D	0.000347	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	B	0.31519	0.327	B	0.17433	0.018	T	0.51482	-0.8700	10	0.26408	T	0.33	.	6.3621	0.21435	0.0:0.2019:0.5904:0.2077	.	52	Q99608	NECD_HUMAN	L	52	ENSP00000332643:P52L	ENSP00000332643:P52L	P	-	2	0	NDN	21483303	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.388000	0.07352	0.159000	0.19401	0.561000	0.74099	CCG	0	NULL		0.761	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	protein_coding	OTTHUMT00000251226.2	12	12	0	0.00	0	0	G	NM_002487	0	0		23932210	-1	no_errors	ENST00000331837	ensembl	human	known	74_37	missense	10	2	23.08	0.00	3	0	SNP	0	A	A	23932210	G	A	23932210	3	1	2	1	0	0	0	0	1	0	0	0	10247	1116	39	2	814	2	NDN	15	23932210	Missense_Mutation	SNP	G	TCGA-3G-AB0Q-01A-11D-A423-09		23932210	78599182	10	15											
CHD3	1107	genome.wustl.edu	37	chr17	7798460	7798460	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgaatggctgtgtcccCgatgcacagtgagtggaaac	10	9	14	8	1	0	2	0	2	0	0	1	4	1	3	2	3	2	2	2	3	2	0			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr17:7798460C>T	ENST00000330494.7	+	9	1645	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	CHD3_ENST00000380358.4_Nonsense_Mutation_p.R558*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.R499*	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	499	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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)				GCTGTGTCCCCGATGCACAGT	0.552																																							0											0													222	166	185					17																	7798460		2203	4300	6503	SO:0001587	stop_gained	0			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.1495C>T	17.37:g.7798460C>T	ENSP00000332628:p.Arg499*		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.R499*	ENST00000330494.7	37	c.1495	CCDS32554.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.675191|6.675191	0.97755|0.97755	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	T|.	0.64618|.	-0.11|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.33180	.|N	.|0.005184	T|.	0.46308|.	0.1386|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38478|.	-0.9659|.	5|.	0.87932|0.02654	D|T	0|1	-6.7131|-6.7131	18.5172|18.5172	0.90939|0.90939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	369|558;499;499	ENSP00000405861:P369L|.	ENSP00000405861:P369L|ENSP00000332628:R499X	P|R	+|+	2|1	0|2	CHD3|CHD3	7739185|7739185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.674000|4.674000	0.61612|0.61612	2.611000|2.611000	0.88343|0.88343	0.561000|0.561000	0.74099|0.74099	CCG|CGA	0	pfam_Znf_PHD-finger,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.552	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	protein_coding	OTTHUMT00000318050.1	41	180	0	0.00	0	0	C	NM_001005273	0	0		7798460	1	no_errors	ENST00000330494	ensembl	human	known	74_37	nonsense	26	113	38.1	35.80	16	63	SNP	1	T	T	7798460	C	T	7798460	4	4	2	1	0	0	0	0	0	1	0	0	3326	644	23	2	1810	2	CHD3	17	7798460	Nonsense_Mutation	SNP	C	TCGA-3G-AB0Q-01A-11D-A423-09		7798460	73396750	11	16											
FOXN1	8456	genome.wustl.edu	37	chr17	26851557	26851557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgctcgtcatttgtgtccGacggccctccagagaggaca	7	9	12	13	3	1	1	1	0	0	1	4	4	3	2	3	2	1	2	3	2	0	1	rs200888774		TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr17:26851557G>A	ENST00000226247.2	+	2	189	c.160G>A	c.(160-162)Gac>Aac	p.D54N	FOXN1_ENST00000579795.1_Missense_Mutation_p.D54N	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	54					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)					ATTTGTGTCCGACGGCCCTCC	0.672													g|||	0	0	0	0	5008	,	,		14357	0		0	False		,,,				2504	0						1,0											0													53	58	56					17																	26851557		2203	4300	6503	SO:0001583	missense	0			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.160G>A	17.37:g.26851557G>A	ENSP00000226247:p.Asp54Asn		B2R9Q7|O15352	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D54N	ENST00000226247.2	37	c.160	CCDS11232.1	17	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	11.82	1.751915	0.31046	.	.	ENSG00000109101	ENST00000226247	D	0.94758	-3.51	5.54	4.57	0.56435	.	0.076424	0.56097	N	0.000039	D	0.89269	0.6667	L	0.29908	0.895	0.09310	N	0.999999	P	0.44478	0.836	B	0.37650	0.255	D	0.83641	0.0150	10	0.56958	D	0.05	.	11.9959	0.53204	0.0811:0.0:0.9189:0.0	.	54	O15353	FOXN1_HUMAN	N	54	ENSP00000226247:D54N	ENSP00000226247:D54N	D	+	1	0	FOXN1	23875684	0.210000	0.23517	0.041000	0.18516	0.012000	0.07955	2.132000	0.42083	1.496000	0.48567	-0.215000	0.12644	GAC	0	NULL		0.672	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	protein_coding	OTTHUMT00000255832.1	19	67	0	0.00	0	0	G		rs200888774	G->A		26851557	1	no_errors	ENST00000226247	ensembl	human	known	74_37	missense	16	43	51.52	31.25	17	20	SNP	0.242	A	A	26851557	G	A	26851557	3	1	2	1	0	0	0	0	1	0	0	0	6019	1058	37	2	166	2	FOXN1	17	26851557	Missense_Mutation	SNP	G	TCGA-3G-AB0Q-01A-11D-A423-09	19053097	26851557	54343653	12	17											
CLTC	1213	genome.wustl.edu	37	chr17	57743887	57743887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcacacattatgaccGggctcatattgctcaactgt	10	13	8	10	1	3	1	3	1	0	0	3	2	3	1	1	1	2	3	1	1	3	4			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr17:57743887G>C	ENST00000269122.3	+	12	2103	c.1829G>C	c.(1828-1830)cGg>cCg	p.R610P	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.R610P	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	610	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)					CATTATGACCGGGCTCATATT	0.413			T	"ALK, TFE3"	"ALCL, renal "																																		0		Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													117	110	112					17																	57743887		2203	4300	6503	SO:0001583	missense	0			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.1829G>C	17.37:g.57743887G>C	ENSP00000269122:p.Arg610Pro		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.R610P	ENST00000269122.3	37	c.1829	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.254186	0.95336	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.18502	2.21;2.21	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	M	0.91612	3.225	0.80722	D	1	D;D	0.67145	0.996;0.971	D;D	0.71414	0.935;0.973	T	0.62305	-0.6882	10	0.87932	D	0	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	610;610	Q00610;Q00610-2	CLH1_HUMAN;.	P	610	ENSP00000269122:R610P;ENSP00000376763:R610P	ENSP00000269122:R610P	R	+	2	0	CLTC	55098669	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.764000	0.94973	0.650000	0.86243	CGG	0	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	34	292	0	0.68	0	2	G	NM_004859	0	0		57743887	1	no_errors	ENST00000269122	ensembl	human	known	74_37	missense	43	166	24.56	23.98	14	53	SNP	1	C	C	57743887	G	C	57743887	3	2	2	1	0	0	0	0	1	0	0	0	3566	1116	39	5	1875	5	CLTC	17	57743887	Missense_Mutation	SNP	G	TCGA-3G-AB0Q-01A-11D-A423-09	30892330	57743887	23451323	13	18											
MRPS7	51081	genome.wustl.edu	37	chr17	73258007	73258007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcccccgcagtgaaggttgCccgaggatggtcgggcctgg	5	7	17	12	3	0	1	0	1	0	0	1	3	0	2	4	5	2	2	4	5	1	1			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr17:73258007C>G	ENST00000245539.6	+	1	253	c.26C>G	c.(25-27)gCc>gGc	p.A9G	MRPS7_ENST00000579761.1_Missense_Mutation_p.A9G|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000537686.1_5'Flank|GGA3_ENST00000579743.1_Intron|MRPS7_ENST00000579002.1_5'UTR|GGA3_ENST00000538886.1_5'Flank|GGA3_ENST00000582717.1_Intron|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000578348.1_Intron	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	9					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GTGAAGGTTGCCCGAGGATGG	0.697																																							0											0													21	30	27					17																	73258007		2200	4298	6498	SO:0001583	missense	0			AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"Mitochondrial ribosomal proteins / small subunits"	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.26C>G	17.37:g.73258007C>G	ENSP00000245539:p.Ala9Gly		B2R9N5|Q53GD6	Missense_Mutation	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom	p.A9G	ENST00000245539.6	37	c.26	CCDS11718.1	17	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901204	0.33535	.	.	ENSG00000125445	ENST00000245539	T	0.47177	0.85	5.72	-7.9	0.01169	.	0.941813	0.08896	N	0.877946	T	0.29256	0.0728	L	0.34521	1.04	0.20403	N	0.999908	B	0.06786	0.001	B	0.04013	0.001	T	0.26985	-1.0087	10	0.23302	T	0.38	-0.8785	10.596	0.45338	0.0:0.1891:0.1094:0.7015	.	9	Q9Y2R9	RT07_HUMAN	G	9	ENSP00000245539:A9G	ENSP00000245539:A9G	A	+	2	0	MRPS7	70769602	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.837000	0.04377	-0.979000	0.03529	-0.345000	0.07892	GCC	0	NULL		0.697	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS7	protein_coding	OTTHUMT00000446666.1	180	56	0	0.00	0	0	C	NM_015971	0	0		73258007	1	no_errors	ENST00000245539	ensembl	human	known	74_37	missense	91	18	33.58	40.00	46	12	SNP	0	G	G	73258007	C	G	73258007	3	3	2	1	0	0	0	0	1	0	0	0	9848	739	26	5	28	5	MRPS7	17	73258007	Missense_Mutation	SNP	C	TCGA-3G-AB0Q-01A-11D-A423-09	15514120	73258007	7937203	14	19											
OR1I1	126370	genome.wustl.edu	37	chr19	15198335	15198335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatcatggatgatcaccaaCctccagtctctcatacacac	12	9	5	15	0	4	1	3	1	1	0	6	2	5	2	3	1	2	1	3	1	2	1			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr19:15198335C>A	ENST00000209540.2	+	1	545	c.459C>A	c.(457-459)aaC>aaA	p.N153K		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	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)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TGATCACCAACCTCCAGTCTC	0.567																																							0											0													95	86	89					19																	15198335		2203	4300	6503	SO:0001583	missense	0			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.459C>A	19.37:g.15198335C>A	ENSP00000209540:p.Asn153Lys		Q96R92	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N153K	ENST00000209540.2	37	c.459	CCDS32937.1	19	.	.	.	.	.	.	.	.	.	.	c	7.016	0.557804	0.13436	.	.	ENSG00000094661	ENST00000209540	T	0.00084	8.75	4.61	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33875	U	0.004480	T	0.00271	0.0008	M	0.76170	2.325	0.09310	N	1	D	0.54397	0.966	P	0.54965	0.765	T	0.46162	-0.9211	10	0.34782	T	0.22	.	6.5276	0.22309	0.0:0.547:0.0:0.453	.	153	O60431	OR1I1_HUMAN	K	153	ENSP00000209540:N153K	ENSP00000209540:N153K	N	+	3	2	OR1I1	15059335	0.000000	0.05858	0.463000	0.27130	0.090000	0.18270	-1.476000	0.02333	0.492000	0.27815	0.555000	0.69702	AAC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.567	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1I1	protein_coding	OTTHUMT00000465665.1	35	155	0	0.00	0	0	C		0	0		15198335	1	no_errors	ENST00000209540	ensembl	human	known	74_37	missense	12	75	40	40.00	8	50	SNP	0	A	A	15198335	C	A	15198335	3	1	2	1	0	0	0	0	1	0	0	0	10958	506	18	5	461	5	OR1I1	19	15198335	Missense_Mutation	SNP	C	TCGA-3G-AB0Q-01A-11D-A423-09		15198335	43930648	15	20											
RPL18	6141	genome.wustl.edu	37	chr19	49120073	49120073	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccggccaggaagcttcatCttccggatcttagggtgggg	6	10	14	11	2	3	0	1	0	2	0	5	2	5	2	3	6	1	1	3	6	2	3			TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr19:49120073C>T	ENST00000549920.1	-	4	599	c.207G>A	c.(205-207)aaG>aaA	p.K69K	RPL18_ENST00000549273.1_Silent_p.K69K|RPL18_ENST00000552588.1_Silent_p.K40K|SPHK2_ENST00000245222.4_5'Flank|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000340932.3_5'Flank|RPL18_ENST00000550645.1_Silent_p.K69K|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000600537.1_5'Flank|SPHK2_ENST00000601712.1_5'Flank|SPHK2_ENST00000598088.1_5'Flank|FAM83E_ENST00000595110.1_5'Flank	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	69					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|kidney(2)	3		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GAAGCTTCATCTTCCGGATCT	0.572																																							0											0													79	74	75					19																	49120073		2203	4300	6503	SO:0001819	synonymous_variant	0			L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"L ribosomal proteins"	10310	protein-coding gene	gene with protein product	"60S ribosomal protein L18"	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.207G>A	19.37:g.49120073C>T			F8VWC5|Q8WTZ6	Missense_Mutation	SNP	NULL	p.D67N	ENST00000549920.1	37	c.199	CCDS12726.1	19	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220176	0.58560	.	.	ENSG00000063177	ENST00000084795;ENST00000546623	.	.	.	4.34	3.3	0.37823	.	.	.	.	.	T	0.53899	0.1825	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50215	-0.8854	4	.	.	.	-21.2038	5.9382	0.19177	0.0:0.793:0.0:0.207	.	.	.	.	N	71;42	.	.	D	-	1	0	RPL18	53811885	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.425000	0.34859	2.426000	0.82243	0.478000	0.44815	GAT	0	NULL		0.572	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL18	protein_coding	OTTHUMT00000405732.2	51	157	0	0.00	0	0	C	NM_000979	0	0		49120073	-1	no_errors	ENST00000549370	ensembl	human	known	74_37	missense	32	81	38.46	35.71	20	45	SNP	1	T	T	49120073	C	T	49120073	2	4	2	1	0	0	0	0	0	0	0	1	13564	912	32	3		3	RPL18	19	49120073	Silent	SNP	C	TCGA-3G-AB0Q-01A-11D-A423-09	33921738	49120073	10008910	16	21											
PLXNB2	23654	genome.wustl.edu	37	chr22	50722370	50722371	+	In_Frame_Ins	INS	-	-	CGG																															tgtagtcggggttagcggccINScggcacaggctgcagtcgct																										TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	-	-	-	CGG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chr22:50722370_50722371insCGG	ENST00000449103.1	-	14	2452_2453	c.2312_2313insCCG	c.(2311-2313)cgg>cgCCGg	p.771_771R>RR	PLXNB2_ENST00000359337.4_In_Frame_Ins_p.771_771R>RR|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	771					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)		GGTTAGCGGCCCGGCACAGGCT	0.698																																							0											0																																										SO:0001652	inframe_insertion	0				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.2310_2312dupCCG	22.37:g.50722371_50722373dupCGG	ENSP00000409171:p.Arg771dup		A6QRH0|Q7KZU3|Q9BSU7	In_Frame_Ins	INS	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.772in_frame_insR	ENST00000449103.1	37	c.2313_2312	CCDS43035.1	22																																																																																			0	superfamily_Plexin-like_fold,smart_Plexin-like_fold		0.698	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	protein_coding	OTTHUMT00000316874.3	56	18	0	0.00	0	0	0	NM_012401	0	0		50722371	-1	no_errors	ENST00000359337	ensembl	human	known	74_37	in_frame_ins	51	6	20.31	40.00	13	4	INS	1.000:1.000	CGG	CGG	50722371	-	CGG	50722370	7	5	2	1	0	1	1	0	0	0	0	0	12124	610	22	0	3299	0	PLXNB2	22	50722370	In_Frame_Ins	INS	-	TCGA-3G-AB0Q-01A-11D-A423-09		50722370	582196	17	22											
FLNA	2316	genome.wustl.edu	37	chrX	153591113	153591114	+	Frame_Shift_Ins	INS	-	-	T																															gctactccggggccgtatacINStttgaccttgttggggtggc																										TCGA-3G-AB0Q-01A-11D-A423-09	TCGA-3G-AB0Q-11A-21D-A426-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ef4fa790-c453-4568-bb03-76ae3d5931d4	126fc753-1f18-4013-8285-ed49ed76bc87	g.chrX:153591113_153591114insT	ENST00000369850.3	-	16	2555_2556	c.2319_2320insA	c.(2317-2322)aaagtafs	p.V774fs	FLNA_ENST00000422373.1_Frame_Shift_Ins_p.V774fs|FLNA_ENST00000360319.4_Frame_Shift_Ins_p.V774fs|FLNA_ENST00000344736.4_Frame_Shift_Ins_p.V774fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	774					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)					GGGCCGTATACTTTGACCTTGT	0.634																																							0											0																																										SO:0001589	frameshift_variant	0			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.2320dupA	X.37:g.153591116_153591116dupT	ENSP00000358866:p.Val774fs		E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Ins	INS	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.V773fs	ENST00000369850.3	37	c.2320_2319	CCDS48194.1	X																																																																																			0	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.634	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	protein_coding	OTTHUMT00000058942.3	88	77	0	0.00	0	0	0		0	0		153591114	-1	no_errors	ENST00000369850	ensembl	human	known	74_37	frame_shift_ins	62	41	22.5	26.79	18	15	INS	1.000:1.000	T	T	153591114	-	T	153591113	7	5	2	1	0	1	1	0	0	0	0	0	5933	565	20	0	5755	0	FLNA	23	153591113	Frame_Shift_Ins	INS	-	TCGA-3G-AB0Q-01A-11D-A423-09		153591113	1679447	18	23											
UTP11L	51118	genome.wustl.edu	37	chr1	38488445	38488445	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgagagaagaaattgttcgtTattgctcagaaaattcaaac	16	11	8	6	2	2	3	2	0	0	3	3	5	2	3	0	0	2	3	0	0	6	5			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr1:38488445T>G	ENST00000373014.4	+	7	703	c.642T>G	c.(640-642)gtT>gtG	p.V214V	UTP11L_ENST00000537711.1_3'UTR|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	214					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AATTGTTCGTTATTGCTCAGA	0.398																																							0											0													90	86	88					1																	38488445		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.642T>G	1.37:g.38488445T>G			A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Silent	SNP	pfam_SSU_processome_Utp11,pirsf_SSU_processome_Utp11	p.V214	ENST00000373014.4	37	c.642	CCDS429.1	1																																																																																			0	pfam_SSU_processome_Utp11,pirsf_SSU_processome_Utp11		0.398	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP11L	protein_coding	OTTHUMT00000012962.1	56	182	0	1.09	0	2	T	NM_016037	0	0		38488445	1	no_errors	ENST00000373014	ensembl	human	known	74_37	silent	52	164	10.34	7.34	6	13	SNP	0.991	G	G	38488445	T	G	38488445	2	3	3	1	0	0	0	0	0	0	0	1	17091	1741	61	5		5	UTP11L	1	38488445	Silent	SNP	T	TCGA-3G-AB0T-01A-11D-A423-09		38488445	210762176	1	24											
TTC13	79573	genome.wustl.edu	37	chr1	231114527	231114527	+	Frame_Shift_Del	DEL	A	A	-																															gggcggcgcccgcggcggccAcagcgccgccccagaagcag																										TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr1:231114527delA	ENST00000366661.4	-	1	57	c.50delT	c.(49-51)gtgfs	p.V17fs	ARV1_ENST00000310256.2_5'Flank|TTC13_ENST00000366662.4_Frame_Shift_Del_p.V17fs|TTC13_ENST00000414259.1_Frame_Shift_Del_p.V17fs|ARV1_ENST00000366658.2_5'Flank	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	17										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)		cgcggcggccACAGCGCCGCC	0.751																																							0											0													1	1	1					1																	231114527		569	1285	1854	SO:0001589	frameshift_variant	0				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.50delT	1.37:g.231114527delA	ENSP00000355621:p.Val17fs		B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Frame_Shift_Del	DEL	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V17fs	ENST00000366661.4	37	c.50	CCDS1588.1	1																																																																																			0	NULL		0.751	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC13	protein_coding	OTTHUMT00000092229.2	22	0	0	0.00	0	0	A	NM_024525	0	0		231114527	-1	no_errors	ENST00000366661	ensembl	human	known	74_37	frame_shift_del	4	0	33.33	0.00	2	0	DEL	0.958	0	-	231114527	A	-	231114527	7	5	3	1	0	1	0	1	0	0	0	0	16677	159	6	0	2624	0	TTC13	1	231114527	Frame_Shift_Del	DEL	A	TCGA-3G-AB0T-01A-11D-A423-09	192626082	231114527	18136094	2	25											
FMN2	56776	genome.wustl.edu	37	chr1	240421266	240421266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaagttattaagcaacAaaagatcacaagcagttgga	17	10	8	6	0	2	1	2	0	0	1	2	2	2	2	0	1	3	4	0	1	7	4			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr1:240421266A>G	ENST00000319653.9	+	7	4317	c.4087A>G	c.(4087-4089)Aaa>Gaa	p.K1363E	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1363	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)			ATTAAGCAACAAAAGATCACA	0.308																																							0											0													103	102	102					1																	240421266		2203	4298	6501	SO:0001583	missense	0			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.4087A>G	1.37:g.240421266A>G	ENSP00000318884:p.Lys1363Glu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.K1363E	ENST00000319653.9	37	c.4087	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529713	0.44969	.	.	ENSG00000155816	ENST00000319653;ENST00000441342	T;T	0.68181	0.71;-0.31	5.42	4.3	0.51218	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.082456	0.50627	N	0.000120	T	0.79557	0.4466	M	0.73962	2.25	0.80722	D	1	P;D	0.76494	0.936;0.999	P;D	0.81914	0.841;0.995	T	0.80246	-0.1462	10	0.59425	D	0.04	.	11.3862	0.49787	0.9288:0.0:0.0712:0.0	.	9;1363	F5H2C1;Q9NZ56	.;FMN2_HUMAN	E	1363;9	ENSP00000318884:K1363E;ENSP00000388922:K9E	ENSP00000318884:K1363E	K	+	1	0	FMN2	238487889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	1.010000	0.39314	0.459000	0.35465	AAA	0	pfam_FH2_Formin,smart_FH2_Formin		0.308	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	protein_coding	OTTHUMT00000096217.2	74	280	0	0.71	0	2	A	XM_371352	0	0		240421266	1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	79	246	9.2	6.46	8	17	SNP	1	G	G	240421266	A	G	240421266	3	3	3	1	0	0	0	0	1	0	0	0	5950	131	5	3	4113	3	FMN2	1	240421266	Missense_Mutation	SNP	A	TCGA-3G-AB0T-01A-11D-A423-09	9306739	240421266	8829355	3	26											
NCKAP5	344148	genome.wustl.edu	37	chr2	133721327	133721327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctctctaatagcaatttgGtcttttcttttccctcatct	7	20	3	11	0	6	0	1	0	5	0	8	0	7	0	1	1	1	1	1	1	3	7	rs371738627		TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr2:133721327G>A	ENST00000409261.1	-	8	918	c.545C>T	c.(544-546)aCc>aTc	p.T182I	NCKAP5_ENST00000409213.1_Missense_Mutation_p.T182I|NCKAP5_ENST00000405974.3_Missense_Mutation_p.T182I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T182I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	182										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						TAGCAATTTGGTCTTTTCTTT	0.368																																							0											0								G	ILE/THR,ILE/THR	0,3730		0,0,1865	171	165	167		545,545	3.5	1	2		167	1,8229		0,1,4114	no	missense,missense	NCKAP5	NM_207363.2,NM_207481.3	89,89	0,1,5979	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging	182/1910,182/591	133721327	1,11959	1865	4115	5980	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.545C>T	2.37:g.133721327G>A	ENSP00000387128:p.Thr182Ile		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.T182I	ENST00000409261.1	37	c.545	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415540	0.62511	0.0	1.22E-4	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834	T;T;T;T	0.48201	2.8;0.82;2.8;0.82	5.4	3.53	0.40419	.	.	.	.	.	T	0.42944	0.1225	N	0.14661	0.345	0.22066	N	0.999384	P;P;D	0.59357	0.852;0.948;0.985	P;P;P	0.55577	0.474;0.779;0.62	T	0.21552	-1.0242	9	0.52906	T	0.07	.	9.4065	0.38464	0.0:0.1626:0.6799:0.1575	.	157;182;182	O14513-3;O14513-2;O14513	.;.;NCKP5_HUMAN	I	182;182;182;182;182;157	ENSP00000387128:T182I;ENSP00000386952:T182I;ENSP00000380603:T182I;ENSP00000385692:T182I	ENSP00000380603:T182I	T	-	2	0	NCKAP5	133437797	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.613000	0.36900	0.786000	0.33708	0.650000	0.86243	ACC	0	NULL		0.368	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	protein_coding	OTTHUMT00000331663.1	77	289	0	0.00	0	0	G	NM_207481	rs371738627	G->A		133721327	-1	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	49	253	7.55	6.62	4	18	SNP	1	A	A	133721327	G	A	133721327	3	1	3	1	0	0	0	0	1	0	0	0	10223	1261	44	3	5236	3	NCKAP5	2	133721327	Missense_Mutation	SNP	G	TCGA-3G-AB0T-01A-11D-A423-09		133721327	109478046	4	27											
STK10	6793	genome.wustl.edu	37	chr5	171520785	171520785	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctcatttccaggggccacGactgggggactggtggtttg	5	12	15	9	1	1	0	1	0	1	0	3	2	2	1	2	6	0	1	2	6	0	3	rs146899945		TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr5:171520785G>A	ENST00000176763.5	-	9	1528	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	395					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)			CAGGGGCCACGACTGGGGGAC	0.632																																							0											0													44	46	45					5																	171520785		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1185C>T	5.37:g.171520785G>A			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.V395	ENST00000176763.5	37	c.1185	CCDS34290.1	5																																																																																			0	NULL		0.632	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	protein_coding	OTTHUMT00000372374.2	87	104	0	0.00	0	0	G	NM_005990	0	0		171520785	-1	no_errors	ENST00000176763	ensembl	human	known	74_37	silent	50	113	9.09	5.04	5	6	SNP	0	A	A	171520785	G	A	171520785	2	1	3	1	0	0	0	0	0	0	0	1	15285	1045	37	2		2	STK10	5	171520785	Silent	SNP	G	TCGA-3G-AB0T-01A-11D-A423-09		171520785	9394475	5	28											
MAP7	9053	genome.wustl.edu	37	chr6	136682169	136682169	+	Frame_Shift_Del	DEL	C	C	-																															ctgggcgcgctctgcctcctCccgctcgcgcagcgcccgct																										TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr6:136682169delC	ENST00000354570.3	-	12	2085	c.1675delG	c.(1675-1677)gagfs	p.E560fs	MAP7_ENST00000454590.1_Frame_Shift_Del_p.E582fs|MAP7_ENST00000438100.2_Frame_Shift_Del_p.E545fs|MAP7_ENST00000544465.1_Frame_Shift_Del_p.E545fs|MAP7_ENST00000432797.2_Frame_Shift_Del_p.E414fs	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	560					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)		TCTGCCTCCTCCCGCTCGCGC	0.766																																							0											0													7	8	8					6																	136682169		2165	4168	6333	SO:0001589	frameshift_variant	0			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.1675delG	6.37:g.136682169delC	ENSP00000346581:p.Glu560fs		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Frame_Shift_Del	DEL	pfam_MAP7	p.E581fs	ENST00000354570.3	37	c.1741	CCDS5178.1	6																																																																																			0	pfam_MAP7		0.766	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	protein_coding	OTTHUMT00000042382.2	23	8	0	0.00	0	0	C	NM_003980	0	0		136682169	-1	no_errors	ENST00000454590	ensembl	human	known	74_37	frame_shift_del	8	8	20	0.00	2	0	DEL	1	0	-	136682169	C	-	136682169	7	5	3	1	0	1	0	1	0	0	0	0	9266	864	30	0	602	0	MAP7	6	136682169	Frame_Shift_Del	DEL	C	TCGA-3G-AB0T-01A-11D-A423-09		136682169	34432898	6	29											
ZAN	7455	genome.wustl.edu	37	chr7	100355891	100355891	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggcccggcagtcgggtcGagtgccagatctctcagtgt	5	9	15	12	3	2	1	1	0	1	1	5	2	2	1	2	3	1	2	2	3	0	0			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr7:100355891G>A	ENST00000348028.3	+	0	3541				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_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)			CAGTCGGGTCGAGTGCCAGAT	0.602																																							0											0													35	40	38					7																	100355891		2091	4217	6308			0			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.100355891G>A			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.E1126K	ENST00000348028.3	37	c.3376		7	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018683	0.35606	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.05081	3.5;3.5;3.5	4.21	-2.46	0.06461	.	0.931511	0.08896	N	0.877934	T	0.08492	0.0211	M	0.77616	2.38	0.22675	N	0.998868	B;B	0.24576	0.086;0.106	B;B	0.17979	0.012;0.02	T	0.32508	-0.9904	10	0.52906	T	0.07	.	5.3811	0.16192	0.2938:0.4415:0.2646:0.0	.	1126;1126	F5H0T8;Q9Y493	.;ZAN_HUMAN	K	1126	ENSP00000445943:E1126K;ENSP00000445091:E1126K;ENSP00000444427:E1126K	ENSP00000423579:E1126K	E	+	1	0	ZAN	100193827	0.004000	0.15560	0.008000	0.14137	0.014000	0.08584	-0.416000	0.07097	-0.513000	0.06496	-0.127000	0.14921	GAG	0	smart_VWC_out		0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	46	70	0	0.00	0	0	G	NM_003386	0	0		100355891	1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	35	58	10.26	10.77	4	7	SNP	0.005	A	A	100355891	G	A	100355891	1	1	3	0	1	0	0	0	0	0	0	0	17510	1059	37	2		2	ZAN	7	100355891	RNA	SNP	G	TCGA-3G-AB0T-01A-11D-A423-09		100355891	58782772	7	30											
ANAPC5	51433	genome.wustl.edu	37	chr12	121756196	121756196	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtaggggaggaagatcGccagtacagctctgccacgg	10	6	16	9	2	1	1	0	0	1	1	2	4	1	3	2	5	3	3	2	5	3	2			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr12:121756196G>A	ENST00000261819.3	-	15	1898	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	ANAPC5_ENST00000535482.1_Nonsense_Mutation_p.R259*|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Nonsense_Mutation_p.R580*|ANAPC5_ENST00000344395.4_Nonsense_Mutation_p.R481*|ANAPC5_ENST00000441917.2_Nonsense_Mutation_p.R481*	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	593					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)					GAGGAAGATCGCCAGTACAGC	0.547																																							0											0													109	95	100					12																	121756196		2203	4300	6503	SO:0001587	stop_gained	0			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.1777C>T	12.37:g.121756196G>A	ENSP00000261819:p.Arg593*		E9PFB2|Q8N4H7|Q9BQD4	Nonsense_Mutation	SNP	smart_TPR_repeat	p.R593*	ENST00000261819.3	37	c.1777	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.479057	0.97598	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.65	3.64	0.41730	.	0.202328	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	11.7146	0.51645	0.0:0.0:0.5057:0.4943	.	.	.	.	X	481;580;593;259;195;481	.	ENSP00000261819:R593X	R	-	1	2	ANAPC5	120240579	1.000000	0.71417	0.978000	0.43139	0.929000	0.56500	3.185000	0.50934	1.561000	0.49584	0.655000	0.94253	CGA	0	smart_TPR_repeat		0.547	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	protein_coding	OTTHUMT00000402582.1	60	96	1.64	0.00	1	0	G		0	0		121756196	-1	no_errors	ENST00000261819	ensembl	human	known	74_37	nonsense	40	89	11.11	8.25	5	8	SNP	0.994	A	A	121756196	G	A	121756196	4	1	3	1	0	0	0	0	0	1	0	0	605	1095	38	1	502	1	ANAPC5	12	121756196	Nonsense_Mutation	SNP	G	TCGA-3G-AB0T-01A-11D-A423-09		121756196	12095699	8	31											
SIX4	51804	genome.wustl.edu	37	chr14	61190488	61190490	+	In_Frame_Del	DEL	GCG	GCG	-																															agaaggccagcggggtctgcGcggcggcggcggcggcgtgg																								rs553541468	byFrequency	TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr14:61190488_61190490delGCG	ENST00000216513.4	-	1	362_364	c.303_305delCGC	c.(301-306)gccgcg>gcg	p.101_102AA>A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	101	Ala-rich.				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)		CGGGGTCTGCGCGGCGGCGGCGG	0.744																																							0											0										8,2428		1,6,1211						3.2	1			1	9,4799		0,9,2395	no	coding	SIX4	NM_017420.4		1,15,3606	A1A1,A1R,RR		0.1872,0.3284,0.2347				17,7227				SO:0001651	inframe_deletion	0			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.303_305delCGC	14.37:g.61190497_61190499delGCG	ENSP00000216513:p.Ala102del		Q4QQH5|Q4V764	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A102in_frame_del	ENST00000216513.4	37	c.305_303	CCDS9749.2	14																																																																																			0	NULL		0.744	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	protein_coding	OTTHUMT00000072397.2	9	15	0	0.00	0	0	GCG		0	0		61190490	-1	no_errors	ENST00000216513	ensembl	human	known	74_37	in_frame_del	4	8	33.33	0.00	2	0	DEL	1.000:0.999:0.999	0	-	61190490	GCG	-	61190488	7	5	3	1	0	1	0	1	0	0	0	0	14349	1087	38	0	2052	0	SIX4	14	61190488	In_Frame_Del	DEL	GCG	TCGA-3G-AB0T-01A-11D-A423-09		61190488	46159052	9	32											
TPSD1	23430	genome.wustl.edu	37	chr16	1306554	1306554	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcaaacgggcattgttggGgggcaggaggcccccaggag	9	4	18	10	1	0	0	0	0	0	0	0	2	0	2	2	7	2	4	2	7	1	2			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr16:1306554G>A	ENST00000211076.3	+	2	268	c.120G>A	c.(118-120)ggG>ggA	p.G40G	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Silent_p.G33G	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	40	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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCATTGTTGGGGGGCAGGAGG	0.697																																							0											0													45	57	53					16																	1306554		2199	4299	6498	SO:0001819	synonymous_variant	0			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.120G>A	16.37:g.1306554G>A			O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.G40	ENST00000211076.3	37	c.120	CCDS10432.1	16																																																																																			0	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.697	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPSD1	protein_coding	OTTHUMT00000250320.2	128	6	0	0.00	0	0	G		0	0		1306554	1	no_errors	ENST00000211076	ensembl	human	known	74_37	silent	68	1	10.53	0.00	8	0	SNP	0.035	A	A	1306554	G	A	1306554	2	1	3	1	0	0	0	0	0	0	0	1	16422	1219	43	3		3	TPSD1	16	1306554	Silent	SNP	G	TCGA-3G-AB0T-01A-11D-A423-09		1306554	89048199	10	33											
TNFAIP8L1	126282	genome.wustl.edu	37	chr19	4652152	4652152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgctgctgcggcgcttcCgccaccgggcgcgctgcctg	1	7	16	17	7	0	0	0	0	0	0	1	0	1	0	4	3	3	4	4	3	0	1			TCGA-3G-AB0T-01A-11D-A423-09	TCGA-3G-AB0T-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ba0511a7-debd-4491-b064-6973b32d5ccf	a2625641-0a2c-4c32-9c4b-cf1c9be835b5	g.chr19:4652152C>T	ENST00000536716.1	+	2	417	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	AC005339.2_ENST00000598070.1_RNA|TNFAIP8L1_ENST00000327473.4_Missense_Mutation_p.R91C	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	91					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)		GCGGCGCTTCCGCCACCGGGC	0.701																																							0											0													23	24	24					19																	4652152		2153	4206	6359	SO:0001583	missense	0			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.271C>T	19.37:g.4652152C>T	ENSP00000444215:p.Arg91Cys		D6W627	Missense_Mutation	SNP	pfam_DUF758	p.R91C	ENST00000536716.1	37	c.271	CCDS12132.1	19	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525511	0.64860	.	.	ENSG00000185361	ENST00000327473;ENST00000536716	T;T	0.37411	1.2;1.2	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000001	T	0.58694	0.2140	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.64474	-0.6399	10	0.87932	D	0	-11.1172	11.3346	0.49496	0.1817:0.8183:0.0:0.0	.	91	Q8WVP5	TP8L1_HUMAN	C	91	ENSP00000331827:R91C;ENSP00000444215:R91C	ENSP00000331827:R91C	R	+	1	0	TNFAIP8L1	4603152	1.000000	0.71417	0.258000	0.24420	0.661000	0.39034	3.280000	0.51677	2.025000	0.59659	0.462000	0.41574	CGC	0	pfam_DUF758		0.701	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L1	protein_coding	OTTHUMT00000458662.1	69	25	0	0.00	0	0	C	NM_152362	0	0		4652152	1	no_errors	ENST00000327473	ensembl	human	known	74_37	missense	43	22	10.42	12.00	5	3	SNP	0.993	T	T	4652152	C	T	4652152	3	4	3	1	0	0	0	0	1	0	0	0	16274	652	23	2	273	2	TNFAIP8L1	19	4652152	Missense_Mutation	SNP	C	TCGA-3G-AB0T-01A-11D-A423-09		4652152	54476831	11	34											
FRAS1	80144	genome.wustl.edu	37	chr4	79188536	79188536	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttctgcatgtgtgatcatGgccaagtgacctgccagact	9	11	11	10	0	2	3	1	2	1	1	2	3	2	3	3	1	2	2	3	1	1	1			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr4:79188536G>C	ENST00000325942.6	+	9	1371	c.931G>C	c.(931-933)Ggc>Cgc	p.G311R	FRAS1_ENST00000264895.6_Missense_Mutation_p.G311R|FRAS1_ENST00000264899.6_Missense_Mutation_p.G311R	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	311	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGTGATCATGGCCAAGTGAC	0.557																																							0											0													82	87	85					4																	79188536		2138	4234	6372	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.931G>C	4.37:g.79188536G>C	ENSP00000326330:p.Gly311Arg		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.G311R	ENST00000325942.6	37	c.931	CCDS54772.1	4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.35|17.35|17.35	3.367804|3.367804|3.367804	0.61513|0.61513|0.61513	.|.|.	.|.|.	ENSG00000138759|ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913|ENST00000502446|ENST00000508900	T;T;T|.|.	0.73363|.|.	-0.74;-0.74;-0.74|.|.	5.19|5.19|5.19	5.19|5.19|5.19	0.71726|0.71726|0.71726	von Willebrand factor, type C (4);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.87018|0.87018|0.87018	0.6073|0.6073|0.6073	M|M|M	0.93763|0.93763|0.93763	3.455|3.455|3.455	0.80722|0.80722|0.80722	D|D|D	1|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;1.0;1.0|.|.	D|D|D	0.90300|0.90300|0.90300	0.4329|0.4329|0.4329	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.1001|19.1001|19.1001	0.93270|0.93270|0.93270	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	311;311;311;311|.|.	E9PHH6;Q86XX4;E7EWM9;A2RRR8|.|.	.;FRAS1_HUMAN;.;.|.|.	R|I|S	311;311;311;51|239|153	ENSP00000326330:G311R;ENSP00000264895:G311R;ENSP00000264899:G311R|.|.	ENSP00000264895:G311R|.|.	G|M|W	+|+|+	1|3|2	0|0|0	FRAS1|FRAS1|FRAS1	79407560|79407560|79407560	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.955000|0.955000|0.955000	0.39395|0.39395|0.39395	0.093000|0.093000|0.093000	0.18481|0.18481|0.18481	6.960000|6.960000|6.960000	0.76036|0.76036|0.76036	2.565000|2.565000|2.565000	0.86533|0.86533|0.86533	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGC|ATG|TGG	0	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C		0.557	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	protein_coding	OTTHUMT00000362706.2	65	163	0	0.00	0	0	G		0	0		79188536	1	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	53	117	20.9	22.52	14	34	SNP	1	C	C	79188536	G	C	79188536	3	2	4	1	0	0	0	0	1	0	0	0	6042	1348	47	5	965	5	FRAS1	4	79188536	Missense_Mutation	SNP	G	TCGA-3G-AB14-01A-11D-A423-09		79188536	111965740	1	35											
ACN9	57001	genome.wustl.edu	37	chr7	96747041	96747041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgtggggcgctatgccGgggcggcacgtttctcgagt	3	9	18	11	7	1	0	0	0	1	0	3	1	1	0	1	6	1	3	1	6	1	2	rs566561181		TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr7:96747041G>A	ENST00000360382.4	+	1	7	c.6G>A	c.(4-6)ccG>ccA	p.P2P	ACN9_ENST00000432641.2_Silent_p.P2P					ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					GCGCTATGCCGGGGCGGCACG	0.652													G|||	1	0.000199681	8e-04	0	5008	,	,		15849	0		0	False		,,,				2504	0						0.9998,0.0001997											0													59	62	61					7																	96747041		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000360382.4:c.6G>A	7.37:g.96747041G>A				Silent	SNP	pfam_Complex1_LYR	p.P2	ENST00000360382.4	37	c.6		7																																																																																			0	NULL		0.652	ACN9-002	PUTATIVE	basic|exp_conf	protein_coding	ACN9	protein_coding	OTTHUMT00000333686.3	28	130	0	0.00	0	0	G	NM_020186	rs566561181	G->A		96747041	1	no_errors	ENST00000432641	ensembl	human	known	74_37	silent	33	118	23.26	24.84	10	39	SNP	0.082	A	A	96747041	G	A	96747041	2	1	4	1	0	0	0	0	0	0	0	1	145	1103	39	2		2	ACN9	7	96747041	Silent	SNP	G	TCGA-3G-AB14-01A-11D-A423-09		96747041	62391622	2	36											
STAU2	27067	genome.wustl.edu	37	chr8	74333642	74333642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatttcttgcagtcctgagCgatggagcccgggggtgcct	5	11	15	10	2	1	2	0	2	1	0	2	4	2	3	3	3	4	1	3	3	0	2			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr8:74333642C>T	ENST00000524300.1	-	15	2028	c.1678G>A	c.(1678-1680)Gct>Act	p.A560T	STAU2_ENST00000521210.1_Missense_Mutation_p.A494T|STAU2_ENST00000522695.1_Missense_Mutation_p.A528T|STAU2-AS1_ENST00000517604.1_lincRNA|STAU2_ENST00000523558.1_Missense_Mutation_p.A388T	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	560	Required for dendritic transport. {ECO:0000250}.				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)			CAGTCCTGAGCGATGGAGCCC	0.537																																							0											0													109	99	102					8																	74333642		692	1591	2283	SO:0001583	missense	0			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.1678G>A	8.37:g.74333642C>T	ENSP00000428756:p.Ala560Thr		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.A560T	ENST00000524300.1	37	c.1678	CCDS55247.1	8	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506456	0.26949	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.36	1.5	0.22942	.	0.756330	0.12581	N	0.456480	T	0.24198	0.0586	N	0.11560	0.145	0.80722	D	1	B;B;B;B	0.10296	0.002;0.0;0.003;0.0	B;B;B;B	0.08055	0.0;0.0;0.003;0.001	T	0.05099	-1.0906	10	0.33141	T	0.24	-35.1699	4.6398	0.12543	0.127:0.6157:0.1224:0.135	.	494;388;528;560	E9PEI3;E7ER74;E9PH62;E9PF26	.;.;.;.	T	528;560;388;494	ENSP00000428456:A528T;ENSP00000428756:A560T;ENSP00000428741:A388T;ENSP00000429173:A494T	ENSP00000344030:A388T	A	-	1	0	STAU2	74496196	1.000000	0.71417	0.784000	0.31847	0.997000	0.91878	1.249000	0.32839	-0.012000	0.14223	0.650000	0.86243	GCT	0	NULL		0.537	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAU2	protein_coding	OTTHUMT00000379000.2	45	209	0	0.48	0	1	C	NM_001164380	0	0		74333642	-1	no_errors	ENST00000524300	ensembl	human	known	74_37	missense	52	193	20	19.25	13	46	SNP	0.978	T	T	74333642	C	T	74333642	3	4	4	1	0	0	0	0	1	0	0	0	15272	768	27	1	38	1	STAU2	8	74333642	Missense_Mutation	SNP	C	TCGA-3G-AB14-01A-11D-A423-09		74333642	72030380	3	37											
ANK3	288	genome.wustl.edu	37	chr10	61932688	61932688	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattgggggaggcgttgttCtgaagtaagacatttattat	10	15	12	4	1	2	2	1	1	1	1	2	3	2	3	0	3	0	3	0	3	4	7			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr10:61932688C>T	ENST00000280772.2	-	20	2543	c.2352G>A	c.(2350-2352)caG>caA	p.Q784Q	ANK3_ENST00000373827.2_Silent_p.Q778Q|ANK3_ENST00000503366.1_Silent_p.Q767Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	784					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						AGGCGTTGTTCTGAAGTAAGA	0.483																																							0											0													160	144	150					10																	61932688		2203	4300	6503	SO:0001819	synonymous_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2352G>A	10.37:g.61932688C>T			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.Q784	ENST00000280772.2	37	c.2352	CCDS7258.1	10																																																																																			0	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	50	185	0	0.00	0	0	C	NM_020987	0	0		61932688	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	46	172	14.81	12.24	8	24	SNP	1	T	T	61932688	C	T	61932688	2	4	4	1	0	0	0	0	0	0	0	1	622	912	32	3		3	ANK3	10	61932688	Silent	SNP	C	TCGA-3G-AB14-01A-11D-A423-09		61932688	73602059	4	38											
ALG9	79796	genome.wustl.edu	37	chr11	111708233	111708233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggaaatcgataccactctTttcccacacagacattcaca	13	10	5	13	1	2	1	1	0	1	1	4	3	3	2	2	1	1	0	2	1	2	4			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr11:111708233T>C	ENST00000531154.1	-	12	1389	c.917A>G	c.(916-918)aAa>aGa	p.K306R	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.K299R	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	470					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)		ATACCACTCTTTTCCCACACA	0.443																																							0											0													117	118	117					11																	111708233		1875	4108	5983	SO:0001583	missense	0				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.917A>G	11.37:g.111708233T>C	ENSP00000435517:p.Lys306Arg		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.K306R	ENST00000531154.1	37	c.917	CCDS41714.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	34|34	5.332183|5.332183	0.95733|0.95733	.|.	.|.	ENSG00000086848|ENSG00000086848	ENST00000532425|ENST00000531154;ENST00000398006;ENST00000428306	T|T;T	0.75050|0.75260	-0.9|-0.92;-0.92	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.079824|0.079824	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.83626|0.83626	0.5295|0.5295	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.996	.|D;D;D;D	.|0.83275	.|0.996;0.922;0.995;0.953	T|T	0.81656|0.81656	-0.0834|-0.0834	8|10	0.72032|0.32370	D|T	0.01|0.25	-16.6993|-16.6993	16.5764|16.5764	0.84681|0.84681	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|299;477;703;470	.|B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.|.;.;.;ALG9_HUMAN	E|R	55|306;299;703	ENSP00000432442:K55E|ENSP00000435517:K306R;ENSP00000381090:K299R	ENSP00000432442:K55E|ENSP00000381090:K299R	K|K	-|-	1|2	0|0	ALG9|ALG9	111213443|111213443	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.960000|0.960000	0.62799|0.62799	7.997000|7.997000	0.88414|0.88414	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAG|AAA	0	pfam_GPI_mannosylTrfase		0.443	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALG9	protein_coding	OTTHUMT00000391485.1	60	190	1.64	0.00	1	0	T	NM_024740	0	0		111708233	-1	no_errors	ENST00000531154	ensembl	human	known	74_37	missense	75	163	25	24.54	25	53	SNP	1	C	C	111708233	T	C	111708233	3	2	4	1	0	0	0	0	1	0	0	0	524	1841	64	3	442	3	ALG9	11	111708233	Missense_Mutation	SNP	T	TCGA-3G-AB14-01A-11D-A423-09		111708233	23298283	5	39											
XPO4	64328	genome.wustl.edu	37	chr13	21374437	21374437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccctctgtatctgctcCgaacgctgtactgaatggca	10	10	9	12	2	2	2	0	1	2	1	3	3	3	2	2	1	4	5	2	1	5	2			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr13:21374437C>T	ENST00000255305.6	-	15	2076	c.2005G>A	c.(2005-2007)Gga>Aga	p.G669R	XPO4_ENST00000400602.2_Missense_Mutation_p.G669R			Q9C0E2	XPO4_HUMAN	exportin 4	669					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)		GTATCTGCTCCGAACGCTGTA	0.388																																							0											0													121	111	114					13																	21374437		1922	4147	6069	SO:0001583	missense	0			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.2005G>A	13.37:g.21374437C>T	ENSP00000255305:p.Gly669Arg		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G669R	ENST00000255305.6	37	c.2005	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	C	32	5.166556	0.94768	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.55234	0.53;0.53	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73154	-0.4072	10	0.46703	T	0.11	-7.898	19.8505	0.96738	0.0:1.0:0.0:0.0	.	669	Q9C0E2	XPO4_HUMAN	R	669;539;669	ENSP00000383444:G669R;ENSP00000255305:G669R	ENSP00000255305:G669R	G	-	1	0	XPO4	20272437	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.190000	0.77755	2.688000	0.91661	0.655000	0.94253	GGA	0	superfamily_ARM-type_fold		0.388	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	protein_coding	OTTHUMT00000044096.1	44	241	0	0.00	0	0	C	NM_022459	0	0		21374437	-1	no_errors	ENST00000255305	ensembl	human	known	74_37	missense	35	181	27.08	17.35	13	38	SNP	1	T	T	21374437	C	T	21374437	3	4	4	1	0	0	0	0	1	0	0	0	17443	661	23	2	1486	2	XPO4	13	21374437	Missense_Mutation	SNP	C	TCGA-3G-AB14-01A-11D-A423-09		21374437	93795441	6	40											
PPP4R4	57718	genome.wustl.edu	37	chr14	94741717	94741717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtattgctttcagatgattCattccggactcgtaatgcca	9	15	8	9	2	2	2	2	1	0	1	4	3	3	3	2	1	2	3	2	1	2	6	rs267604108		TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr14:94741717C>T	ENST00000304338.3	+	24	2610	c.2456C>T	c.(2455-2457)tCa>tTa	p.S819L		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	819					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TCAGATGATTCATTCCGGACT	0.403																																							0											0													215	207	210					14																	94741717		2203	4300	6503	SO:0001583	missense	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2456C>T	14.37:g.94741717C>T	ENSP00000305924:p.Ser819Leu		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S819L	ENST00000304338.3	37	c.2456	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489960	0.64074	.	.	ENSG00000119698	ENST00000304338	.	.	.	6.02	5.12	0.69794	.	0.428555	0.20672	N	0.087801	T	0.52256	0.1723	L	0.32530	0.975	0.80722	D	1	B	0.14438	0.01	B	0.13407	0.009	T	0.45571	-0.9252	9	0.41790	T	0.15	-14.093	14.7102	0.69225	0.0:0.9313:0.0:0.0687	.	819	Q6NUP7	PP4R4_HUMAN	L	819	.	ENSP00000305924:S819L	S	+	2	0	PPP4R4	93811470	0.898000	0.30612	0.944000	0.38274	0.985000	0.73830	2.917000	0.48821	2.857000	0.98124	0.650000	0.86243	TCA	0	NULL		0.403	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	protein_coding	OTTHUMT00000413056.1	87	228	0	0.00	0	0	C	NM_058237	rs267604108	C->T		94741717	1	no_errors	ENST00000304338	ensembl	human	known	74_37	missense	67	229	24.72	21.69	22	64	SNP	0.95	T	T	94741717	C	T	94741717	3	4	4	1	0	0	0	0	1	0	0	0	12405	838	29	3	2623	3	PPP4R4	14	94741717	Missense_Mutation	SNP	C	TCGA-3G-AB14-01A-11D-A423-09		94741717	12607823	7	41											
RBBP6	5930	genome.wustl.edu	37	chr16	24581490	24581496	+	Frame_Shift_Del	DEL	TTGAGTC	TTGAGTC	-																															aaaaggcgtagataaagattTtgagtcttcttcaatgaaaa																										TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	TTGAGTC	TTGAGTC	TTGAGTC	-	TTGAGTC	TTGAGTC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr16:24581490_24581496delTTGAGTC	ENST00000319715.4	+	17	3911_3917	c.3479_3485delTTGAGTC	c.(3478-3486)tttgagtctfs	p.FES1160fs	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.FES1126fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1160					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)		GATAAAGATTTTGAGTCTTCTTCAATG	0.353																																							0											0																																										SO:0001589	frameshift_variant	0				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.3479_3485delTTGAGTC	16.37:g.24581490_24581496delTTGAGTC	ENSP00000317872:p.Phe1160fs		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	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.E1161fs	ENST00000319715.4	37	c.3479_3485	CCDS10621.1	16																																																																																			0	NULL		0.353	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	protein_coding	OTTHUMT00000214067.2	44	202	0	0.00	0	0	TTGAGTC	NM_006910	0	0		24581496	1	no_errors	ENST00000319715	ensembl	human	known	74_37	frame_shift_del	24	166	14.29	4.05	4	7	DEL	1.000:0.999:1.000:0.985:0.084:0.080:0.053	0	-	24581496	TTGAGTC	-	24581490	7	5	4	1	0	1	0	1	0	0	0	0	13103	1841	64	0	3599	0	RBBP6	16	24581490	Frame_Shift_Del	DEL	TTGAGTC	TCGA-3G-AB14-01A-11D-A423-09		24581490	65773263	8	42											
TP53	7157	genome.wustl.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chr17:7577538C>A	ENST00000269305.4	-	7	932	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000359597.4_Missense_Mutation_p.R248L	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)		0	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						152	112	126					17																	7577538		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>T	17.37:g.7577538C>A	ENSP00000269305:p.Arg248Leu		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.R248L	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488044	0.84854	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	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	0.99862	0.9935	M	0.92507	3.315	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.996;0.999;0.996;0.996;0.997	D	0.96931	0.9681	10	0.87932	D	0	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	L	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248L;ENSP00000352610:R248L;ENSP00000269305:R248L;ENSP00000398846:R248L;ENSP00000391127:R248L;ENSP00000391478:R248L;ENSP00000425104:R116L;ENSP00000423862:R155L	ENSP00000269305:R248L	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	0	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	24	145	0	0.00	0	0	C	NM_000546	0	0		7577538	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	30	113	26.83	23.13	11	34	SNP	1	A	A	7577538	C	A	7577538	3	1	4	1	0	0	0	0	1	0	0	0	16378	652	23	5	547	5	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-3G-AB14-01A-11D-A423-09		7577538	73617672	9	43											
ZMYM3	9203	genome.wustl.edu	37	chrX	70468142	70468142	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacagcaatcacggcaGcagaactggaacacttggtc	12	7	9	13	1	2	1	2	0	0	1	4	2	3	2	1	3	4	3	1	3	3	1			TCGA-3G-AB14-01A-11D-A423-09	TCGA-3G-AB14-11A-22D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c737446-04f3-49eb-ada0-0282c2353364	4a15d726-09ea-450c-9137-a15721887d44	g.chrX:70468142G>T	ENST00000353904.2	-	11	2032	c.1845C>A	c.(1843-1845)tgC>tgA	p.C615*	ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.C617*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.C617*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.C615*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Nonsense_Mutation_p.C615*	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	615					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)					AATCACGGCAGCAGAACTGGA	0.582																																							0											0													50	38	42					X																	70468142		2203	4300	6503	SO:0001587	stop_gained	0			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.1845C>A	X.37:g.70468142G>T	ENSP00000343909:p.Cys615*		D3DVV3|O15089|Q96E26	Nonsense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.C617*	ENST00000353904.2	37	c.1851	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	43	9.833799	0.99275	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	.	.	.	4.8	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.593	12.6533	0.56774	0.0969:0.0:0.9031:0.0	.	.	.	.	X	615;615;615;617;617	.	ENSP00000322845:C615X	C	-	3	2	ZMYM3	70384867	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.529000	0.45632	2.221000	0.72209	0.429000	0.28392	TGC	0	pfam_Znf_MYM,smart_TRASH_dom		0.582	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	protein_coding	OTTHUMT00000057154.1	26	103	0	0.00	0	0	G	NM_201599	0	0		70468142	-1	no_errors	ENST00000373988	ensembl	human	known	74_37	nonsense	8	62	55.56	38.24	10	39	SNP	1	T	T	70468142	G	T	70468142	4	4	4	1	0	0	0	0	0	1	0	0	17698	963	34	5	2327	5	ZMYM3	23	70468142	Nonsense_Mutation	SNP	G	TCGA-3G-AB14-01A-11D-A423-09		70468142	84802418	10	44											
TM2D1	83941	genome.wustl.edu	37	chr1	62190776	62190776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggagcagacggaccagacGgccaggcggccgccatcttg	8	3	15	15	5	1	2	0	0	1	2	1	4	1	4	5	5	1	1	5	5	0	1			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr1:62190776G>C	ENST00000606498.1	-	1	37	c.17C>G	c.(16-18)cCg>cGg	p.P6R	TM2D1_ENST00000371180.2_Missense_Mutation_p.P68R|TM2D1_ENST00000294613.5_Missense_Mutation_p.P6R|TM2D1_ENST00000371177.2_Missense_Mutation_p.P6R			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											0													35	42	40					1																	62190776		1913	4090	6003	SO:0001583	missense	0			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>G	1.37:g.62190776G>C	ENSP00000475700:p.Pro6Arg		A6NDA8	Missense_Mutation	SNP	pfam_TM2	p.P68R	ENST00000606498.1	37	c.203		1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089386	0.55968	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.69	3.7	0.42460	.	1.025170	0.07796	N	0.955791	T	0.33235	0.0856	L	0.34521	1.04	0.09310	N	1	B	0.27498	0.18	B	0.19391	0.025	T	0.13415	-1.0510	9	0.72032	D	0.01	-1.8948	9.5646	0.39391	0.0:0.0:0.7907:0.2093	.	6	Q9BX74	TM2D1_HUMAN	R	68;6;6;6	.	ENSP00000294613:P6R	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	0	NULL		0.662	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	TM2D1	protein_coding	OTTHUMT00000470779.2	42	67	0	0.00	0	0	G	NM_032027	0	0		62190776	-1	no_errors	ENST00000371180	ensembl	human	known	74_37	missense	23	34	45.24	34.62	19	18	SNP	0.004	C	C	62190776	G	C	62190776	3	2	5	1	0	0	0	0	1	0	0	0	15960	1116	39	5	630	5	TM2D1	1	62190776	Missense_Mutation	SNP	G	TCGA-3G-AB19-01A-21D-A423-09		62190776	187059845	1	45											
KIF3C	3797	genome.wustl.edu	37	chr2	26204457	26204457	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctcgggctccacccaGgtcccctgcatggtataggt	6	8	12	15	2	0	0	0	0	0	0	3	0	2	0	4	4	2	5	4	4	2	2			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr2:26204457G>C	ENST00000264712.3	-	1	909	c.330C>G	c.(328-330)acC>acG	p.T110T	KIF3C_ENST00000405914.1_Silent_p.T110T	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	110	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			TW -> DL (in Ref. 1; AAC05302). {ECO:0000305}.	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)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCCACCCAGGTCCCCTGCA	0.617																																							0											0													76	70	72					2																	26204457		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.330C>G	2.37:g.26204457G>C			O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T110	ENST00000264712.3	37	c.330	CCDS1719.1	2																																																																																			0	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.617	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	protein_coding	OTTHUMT00000211611.1	57	230	0	0.43	0	1	G		0	0		26204457	-1	no_errors	ENST00000264712	ensembl	human	known	74_37	silent	25	96	44.44	40.37	20	65	SNP	1	C	C	26204457	G	C	26204457	2	2	5	1	0	0	0	0	0	0	0	1	8302	987	35	5		5	KIF3C	2	26204457	Silent	SNP	G	TCGA-3G-AB19-01A-21D-A423-09		26204457	216994916	2	46											
NRXN1	9378	genome.wustl.edu	37	chr2	50847200	50847200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttgttactgactggtgacCctggaaggtcggctgtgctg	6	12	15	8	1	0	2	0	2	0	0	1	3	0	3	1	4	2	4	1	4	2	2			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr2:50847200C>A	ENST00000406316.2	-	8	2756	c.1280G>T	c.(1279-1281)gGg>gTg	p.G427V	NRXN1_ENST00000404971.1_Missense_Mutation_p.G467V|NRXN1_ENST00000405472.3_Missense_Mutation_p.G419V|NRXN1_ENST00000406859.3_Missense_Mutation_p.G427V|NRXN1_ENST00000402717.3_Missense_Mutation_p.G419V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G427V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	427	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)			GACTGGTGACCCTGGAAGGTC	0.458																																							0											0													63	63	63					2																	50847200		1973	4177	6150	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1280G>T	2.37:g.50847200C>A	ENSP00000384311:p.Gly427Val		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.G419V	ENST00000406316.2	37	c.1256	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578206	0.65878	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.17;-1.18;-1.17;-1.18	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.87317	0.6147	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.99;0.989	D	0.85812	0.1380	10	0.54805	T	0.06	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	467;427;419	Q9ULB1-3;F8WB18;A7E294	.;.;.	V	467;427;419;427;468;419;427	ENSP00000385142:G467V;ENSP00000384311:G427V;ENSP00000434015:G419V;ENSP00000385017:G427V;ENSP00000385434:G419V;ENSP00000385681:G427V	ENSP00000385017:G427V	G	-	2	0	NRXN1	50700704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GGG	0	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	29	215	0	0.00	0	0	C		0	0		50847200	-1	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	39	144	33.9	29.76	20	61	SNP	1	A	A	50847200	C	A	50847200	3	1	5	1	0	0	0	0	1	0	0	0	10665	623	22	5	3570	5	NRXN1	2	50847200	Missense_Mutation	SNP	C	TCGA-3G-AB19-01A-21D-A423-09	24642743	50847200	192352173	3	47											
HECW2	57520	genome.wustl.edu	37	chr2	197172675	197172675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaccgccggttcagctgctCcatttgctgtatggagttag	6	13	11	11	2	2	0	2	0	0	0	3	1	3	1	3	2	3	6	3	2	2	4			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr2:197172675C>T	ENST00000260983.3	-	11	2751	c.2569G>A	c.(2569-2571)Gag>Aag	p.E857K	HECW2_ENST00000409111.1_Missense_Mutation_p.E501K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	857	Interaction with TP73.				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						TTCAGCTGCTCCATTTGCTGT	0.507																																							0											0													90	84	86					2																	197172675		2203	4300	6503	SO:0001583	missense	0			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.2569G>A	2.37:g.197172675C>T	ENSP00000260983:p.Glu857Lys		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.E857K	ENST00000260983.3	37	c.2569	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.601546	0.96614	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.83591	-1.74;-1.74	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.89701	0.6791	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.90241	0.4286	10	0.72032	D	0.01	.	18.8496	0.92222	0.0:1.0:0.0:0.0	.	857	Q9P2P5	HECW2_HUMAN	K	501;857	ENSP00000386775:E501K;ENSP00000260983:E857K	ENSP00000260983:E857K	E	-	1	0	HECW2	196880920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.309000	0.78937	2.692000	0.91855	0.555000	0.69702	GAG	0	NULL		0.507	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	protein_coding	OTTHUMT00000335199.3	57	258	0	0.77	0	2	C	NM_020760	0	0		197172675	-1	no_errors	ENST00000260983	ensembl	human	known	74_37	missense	26	123	33.33	37.88	13	75	SNP	1	T	T	197172675	C	T	197172675	3	4	5	1	0	0	0	0	1	0	0	0	7043	864	30	3	2225	3	HECW2	2	197172675	Missense_Mutation	SNP	C	TCGA-3G-AB19-01A-21D-A423-09	146325475	197172675	46026698	4	48											
HAND2	9464	genome.wustl.edu	37	chr4	174450159	174450159	+	Frame_Shift_Del	DEL	C	C	-																															cggcgcttcaccgggcgcggCccccccaggcccgggggccc																										TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr4:174450159delC	ENST00000359562.4	-	1	1221	c.282delG	c.(280-282)gggfs	p.G94fs	HAND2-AS1_ENST00000515350.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000503474.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	94					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ccgggcgcggcccccccaggc	0.751																																							0											0																																										SO:0001589	frameshift_variant	0			AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"Basic helix-loop-helix proteins"	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.282delG	4.37:g.174450159delC	ENSP00000352565:p.Gly94fs		B6ECG9|O95300|O95301|P97833|Q494T1	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P95fs	ENST00000359562.4	37	c.282	CCDS3819.1	4																																																																																			0	NULL		0.751	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAND2	protein_coding	OTTHUMT00000362241.3	11	21	0	0.00	0	0	C		0	0		174450159	-1	no_errors	ENST00000359562	ensembl	human	known	74_37	frame_shift_del	4	10	33.33	0.00	2	0	DEL	1	0	-	174450159	C	-	174450159	7	5	5	1	0	1	0	1	0	0	0	0	6950	726	26	0	379	0	HAND2	4	174450159	Frame_Shift_Del	DEL	C	TCGA-3G-AB19-01A-21D-A423-09		174450159	16704117	5	49											
BDP1	55814	genome.wustl.edu	37	chr5	70763245	70763245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaatgaccccatatttGagcgcggttctacaactaca	15	9	7	10	2	1	3	0	2	1	1	1	3	1	3	2	1	4	1	2	1	7	5			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr5:70763245G>A	ENST00000358731.4	+	6	1113	c.850G>A	c.(850-852)Gag>Aag	p.E284K	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	284	Interaction with ZBTB43.				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)		CCCCATATTTGAGCGCGGTTC	0.303																																							0											0													181	179	180					5																	70763245		1818	4069	5887	SO:0001583	missense	0			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.850G>A	5.37:g.70763245G>A	ENSP00000351575:p.Glu284Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E284K	ENST00000358731.4	37	c.850	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.129412	0.94473	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.05258	3.47	5.36	5.36	0.76844	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.23886	0.0578	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.87578	0.997;0.994;0.998	T	0.00128	-1.2017	10	0.52906	T	0.07	.	17.8639	0.88790	0.0:0.0:1.0:0.0	.	284;284;284	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	K	284	ENSP00000351575:E284K	ENSP00000351575:E284K	E	+	1	0	BDP1	70799001	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.154000	0.94694	2.513000	0.84729	0.563000	0.77884	GAG	0	superfamily_Homeodomain-like		0.303	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	protein_coding	OTTHUMT00000374681.2	64	356	0	0.56	0	2	G	NM_018429	0	0		70763245	1	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	62	292	40.95	28.95	43	119	SNP	1	A	A	70763245	G	A	70763245	3	1	5	1	0	0	0	0	1	0	0	0	1395	1291	45	3	872	3	BDP1	5	70763245	Missense_Mutation	SNP	G	TCGA-3G-AB19-01A-21D-A423-09		70763245	110152015	6	50											
KIF4B	285643	genome.wustl.edu	37	chr5	154394947	154394947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacaagcaggtcttctgacGcttttaccactcagcatgct	10	11	8	12	1	3	2	1	1	2	1	3	2	3	2	1	1	4	4	1	1	2	3	rs199913629		TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr5:154394947G>A	ENST00000435029.4	+	1	1688	c.1528G>A	c.(1528-1530)Gct>Act	p.A510T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	510					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)			GTCTTCTGACGCTTTTACCAC	0.483																																							0											0													96	102	100					5																	154394947		2203	4300	6503	SO:0001583	missense	0			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.1528G>A	5.37:g.154394947G>A	ENSP00000387875:p.Ala510Thr			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A510T	ENST00000435029.4	37	c.1528	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	g	0.413	-0.912227	0.02415	.	.	ENSG00000226650	ENST00000435029	T	0.68025	-0.3	1.35	1.35	0.21983	.	.	.	.	.	T	0.48732	0.1516	L	0.35487	1.065	0.37652	D	0.92243	B	0.10296	0.003	B	0.04013	0.001	T	0.40001	-0.9586	9	0.14656	T	0.56	.	8.5829	0.33640	0.0:0.0:1.0:0.0	.	510	Q2VIQ3	KIF4B_HUMAN	T	510	ENSP00000387875:A510T	ENSP00000387875:A510T	A	+	1	0	KIF4B	154375140	0.998000	0.40836	0.095000	0.20976	0.010000	0.07245	5.804000	0.69135	1.061000	0.40601	0.462000	0.41574	GCT	0	NULL		0.483	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	protein_coding	OTTHUMT00000377478.1	66	144	0	0.00	0	0	G		0	0		154394947	1	no_errors	ENST00000435029	ensembl	human	known	74_37	missense	68	83	26.88	30.25	25	36	SNP	0.963	A	A	154394947	G	A	154394947	3	1	5	1	0	0	0	0	1	0	0	0	8304	1087	38	1	1530	1	KIF4B	5	154394947	Missense_Mutation	SNP	G	TCGA-3G-AB19-01A-21D-A423-09	83631702	154394947	26520313	7	51											
EHMT2	10919	genome.wustl.edu	37	chr6	31850563	31850563	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagctgtagccgcaccCtgggggtaggagagatggcg	8	6	19	8	2	0	2	0	0	0	2	0	4	0	3	2	5	2	5	2	5	3	3			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr6:31850563C>A	ENST00000375537.4	-	25	3117		c.e25-1		EHMT2_ENST00000375528.4_Splice_Site|EHMT2_ENST00000395728.3_Splice_Site|EHMT2_ENST00000480912.1_Splice_Site|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375530.4_Splice_Site	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						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						TAGCCGCACCCTGGGGGTAGG	0.662																																							0											0													26	26	26					6																	31850563		1508	2708	4216	SO:0001630	splice_region_variant	0			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.3111-1G>T	6.37:g.31850563C>A			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Splice_Site	SNP	0	e24-1	ENST00000375537.4	37	c.3282-1	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921720	0.33908	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	.	.	.	4.57	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6638	0.39972	0.0:0.8274:0.0:0.1726	.	.	.	.	.	-1	.	.	.	-	.	.	EHMT2	31958542	1.000000	0.71417	0.825000	0.32803	0.017000	0.09413	7.181000	0.77682	0.549000	0.28973	-0.145000	0.13849	.	0	0		0.662	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	protein_coding	OTTHUMT00000076355.5	39	105	0	0.00	0	0	C	NM_006709	0	0	Intron	31850563	-1	no_errors	ENST00000395728	ensembl	human	known	74_37	splice_site	16	60	34.62	21.05	9	16	SNP	1	A	A	31850563	C	A	31850563	5	1	5	1	0	0	0	0	0	0	1	0	4984	695	24	5	538	5	EHMT2	6	31850563	Splice_Site	SNP	C	TCGA-3G-AB19-01A-21D-A423-09		31850563	139264504	8	52											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	315	150	0	1.32	0	2	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	260	91	36.03	40.13	147	61	SNP	1	A	A	74146970	T	A	74146970	3	1	5	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-3G-AB19-01A-21D-A423-09		74146970	84991693	9	53											
RIMS2	9699	genome.wustl.edu	37	chr8	104948818	104948818	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaaacagtaaagaaaacAttggaacccaaatggaacca	22	5	6	8	0	0	1	0	0	0	1	0	3	0	3	2	2	4	1	2	2	9	3			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr8:104948818A>G	ENST00000436393.2	+	11	1990	c.1749A>G	c.(1747-1749)acA>acG	p.T583T	RIMS2_ENST00000507740.1_Silent_p.T597T|RIMS2_ENST00000262231.10_Silent_p.T644T|RIMS2_ENST00000406091.3_Silent_p.T805T			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	867					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)			TAAAGAAAACATTGGAACCCA	0.338										HNSCC(12;0.0054)																													0											0													99	91	94					8																	104948818		1824	4074	5898	SO:0001819	synonymous_variant	0			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.1749A>G	8.37:g.104948818A>G			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	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.T805	ENST00000436393.2	37	c.2415		8																																																																																			0	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.338	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	protein_coding	OTTHUMT00000367217.1	64	279	0	0.00	0	0	A	NM_001100117	0	0		104948818	1	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	105	195	36.9	35.64	62	108	SNP	0.973	G	G	104948818	A	G	104948818	2	3	5	1	0	0	0	0	0	0	0	1	13368	204	8	3		3	RIMS2	8	104948818	Silent	SNP	A	TCGA-3G-AB19-01A-21D-A423-09		104948818	41415204	10	54											
HRAS	3265	genome.wustl.edu	37	chr11	533553	533553	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgtgcagccaggtcacacTtgttccccaccagcaccatg	8	8	9	16	1	1	0	1	0	0	0	2	0	2	0	5	1	4	3	5	1	0	2	rs104894227		TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr11:533553T>C	ENST00000451590.1	-	4	537	c.350A>G	c.(349-351)aAg>aGg	p.K117R	HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000311189.7_Missense_Mutation_p.K117R|HRAS_ENST00000397594.1_Missense_Mutation_p.K117R|HRAS_ENST00000397596.2_Missense_Mutation_p.K117R|HRAS_ENST00000417302.1_Missense_Mutation_p.K117R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	117			K -> R (in CSTLO). {ECO:0000269|PubMed:16443854}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;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)		CAGGTCACACTTGTTCCCCAC	0.632		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	0			GRCh37	CM061796	HRAS	M	rs104894227						199	177	184					11																	533553		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.350A>G	11.37:g.533553T>C	ENSP00000407586:p.Lys117Arg		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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.K117R	ENST00000451590.1	37	c.350	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718949	0.89205	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	4.08	4.08	0.47627	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	H	0.99650	4.68	0.80722	A	1	D;D	0.76494	0.999;0.998	D;D	0.71656	0.974;0.964	D	0.98374	1.0555	9	0.87932	D	0	.	12.54	0.56163	0.0:0.0:0.0:1.0	.	117;117	P01112-2;P01112	.;RASH_HUMAN	R	117	ENSP00000380722:K117R;ENSP00000380723:K117R;ENSP00000407586:K117R;ENSP00000388246:K117R;ENSP00000309845:K117R	ENSP00000309845:K117R	K	-	2	0	HRAS	523553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.878000	0.87231	1.624000	0.50355	0.459000	0.35465	AAG	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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		0.632	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	48	204	0	0.00	0	0	T	NM_176795	rs104894227	T->C		533553	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	33	72	26.67	37.39	12	43	SNP	1	C	C	533553	T	C	533553	3	2	5	1	0	0	0	0	1	0	0	0	7348	1609	56	4	294	4	HRAS	11	533553	Missense_Mutation	SNP	T	TCGA-3G-AB19-01A-21D-A423-09		533553	134472963	11	55											
TEAD4	7004	genome.wustl.edu	37	chr12	3120212	3120212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacatcaagctccggacagGgaagacccgcaccaggaagc	13	3	11	14	2	1	1	1	0	0	1	2	4	2	4	3	3	3	2	3	3	4	1			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr12:3120212G>A	ENST00000359864.2	+	4	459	c.269G>A	c.(268-270)gGg>gAg	p.G90E	TEAD4_ENST00000358409.2_Missense_Mutation_p.G90E|TEAD4_ENST00000397122.2_5'UTR	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	90					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)			CTCCGGACAGGGAAGACCCGC	0.632																																							0											0													68	66	67					12																	3120212		2203	4300	6503	SO:0001583	missense	0			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.269G>A	12.37:g.3120212G>A	ENSP00000352926:p.Gly90Glu		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.G90E	ENST00000359864.2	37	c.269	CCDS31729.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325142	0.81580	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.52057	0.68;0.68;0.68	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82008	-0.0670	10	0.87932	D	0	-28.8427	12.284	0.54781	0.0:0.0:0.8299:0.1701	.	90	Q15561	TEAD4_HUMAN	E	90	ENSP00000351184:G90E;ENSP00000352926:G90E;ENSP00000444528:G90E	ENSP00000351184:G90E	G	+	2	0	TEAD4	2990473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.666000	0.83877	1.272000	0.44329	0.561000	0.74099	GGG	0	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS		0.632	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	TEAD4	protein_coding	OTTHUMT00000398475.1	28	71	0	0.00	0	0	G	NM_003213	0	0		3120212	1	no_errors	ENST00000359864	ensembl	human	known	74_37	missense	16	43	36	45.00	9	36	SNP	1	A	A	3120212	G	A	3120212	3	1	5	1	0	0	0	0	1	0	0	0	15738	1232	43	3	275	3	TEAD4	12	3120212	Missense_Mutation	SNP	G	TCGA-3G-AB19-01A-21D-A423-09		3120212	130731683	12	56											
PPTC7	160760	genome.wustl.edu	37	chr12	110989715	110989715	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtccgcattaaagtcccTgagaattgagatggatcaac	13	9	9	10	2	1	2	1	2	0	2	3	5	3	3	2	1	1	1	2	1	4	2			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr12:110989715T>A	ENST00000354300.3	-	2	570	c.282A>T	c.(280-282)tcA>tcT	p.S94S		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	94	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						TTAAAGTCCCTGAGAATTGAG	0.428																																							0											0													107	95	99					12																	110989715		2203	4300	6503	SO:0001819	synonymous_variant	0			AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"T cell activation protein phosphatase 2C"	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.282A>T	12.37:g.110989715T>A			B3KWC5|Q68DZ7|Q6UY82	Silent	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.S94	ENST00000354300.3	37	c.282	CCDS9149.1	12																																																																																			0	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom		0.428	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPTC7	protein_coding	OTTHUMT00000404635.1	79	260	0	0.76	0	2	T	NM_139283	0	0		110989715	-1	no_errors	ENST00000354300	ensembl	human	known	74_37	silent	45	185	36.62	35.54	26	102	SNP	1	A	A	110989715	T	A	110989715	2	1	5	1	0	0	0	0	0	0	0	1	12413	1567	55	5		5	PPTC7	12	110989715	Silent	SNP	T	TCGA-3G-AB19-01A-21D-A423-09	107869503	110989715	22862180	13	57											
MTHFD1	4522	genome.wustl.edu	37	chr14	64914971	64914979	+	In_Frame_Del	DEL	AAGAAACAA	AAGAAACAA	-																															aaaaaggcttcagtaacttgAagaaacaaattgaaaatgcc																										TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	AAGAAACAA	AAGAAACAA	AAGAAACAA	-	AAGAAACAA	AAGAAACAA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr14:64914971_64914979delAAGAAACAA	ENST00000545908.1	+	23	2612_2620	c.2383_2391delAAGAAACAA	c.(2383-2391)aagaaacaadel	p.KKQ795del	MTHFD1_ENST00000216605.8_In_Frame_Del_p.KKQ739del|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	739	Formyltetrahydrofolate synthetase.				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)	CAGTAACTTGAAGAAACAAATTGAAAATG	0.397																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)		0											0																																										SO:0001651	inframe_deletion	0			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.2383_2391delAAGAAACAA	14.37:g.64914971_64914979delAAGAAACAA	ENSP00000438588:p.Lys795_Gln797del		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	In_Frame_Del	DEL	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.KKQ739in_frame_del	ENST00000545908.1	37	c.2215_2223		14																																																																																			0	pfam_Formate_THF_ligase,superfamily_P-loop_NTPase		0.397	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	MTHFD1	protein_coding	OTTHUMT00000412167.1	60	124	0	0.00	0	0	AAGAAACAA		0	0		64914979	1	no_errors	ENST00000216605	ensembl	human	known	74_37	in_frame_del	39	71	20.41	11.25	10	9	DEL	0.998:0.990:1.000:1.000:1.000:1.000:1.000:1.000:1.000	0	-	64914979	AAGAAACAA	-	64914971	7	5	5	1	0	1	0	1	0	0	0	0	9927	247	9	0	2305	0	MTHFD1	14	64914971	In_Frame_Del	DEL	AAGAAACAA	TCGA-3G-AB19-01A-21D-A423-09		64914971	42434569	14	58											
SLC12A1	6557	genome.wustl.edu	37	chr15	48551475	48551475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcacgcctttaccaagaaCagtggcctttgcatctgctg	9	11	8	13	1	2	1	1	0	1	1	2	1	2	1	3	1	4	2	3	1	3	3			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr15:48551475C>T	ENST00000558405.1	+	16	2135	c.2121C>T	c.(2119-2121)aaC>aaT	p.N707N	SLC12A1_ENST00000380993.3_Silent_p.N707N|SLC12A1_ENST00000396577.3_Silent_p.N707N			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	707					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTACCAAGAACAGTGGCCTTT	0.483																																							0											0													183	159	167					15																	48551475		2198	4297	6495	SO:0001819	synonymous_variant	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2121C>T	15.37:g.48551475C>T			A8JYA2|E9PDW4	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.N707	ENST00000558405.1	37	c.2121	CCDS10129.2	15																																																																																			0	tigrfam_Na/K/Cl_cotransptS		0.483	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	protein_coding	OTTHUMT00000417131.1	67	297	0	0.34	0	1	C		0	0		48551475	1	no_errors	ENST00000380993	ensembl	human	known	74_37	silent	40	198	40.3	28.52	27	79	SNP	1	T	T	48551475	C	T	48551475	2	4	5	1	0	0	0	0	0	0	0	1	14382	477	17	3		3	SLC12A1	15	48551475	Silent	SNP	C	TCGA-3G-AB19-01A-21D-A423-09		48551475	53979917	15	59											
C16orf62	57020	genome.wustl.edu	37	chr16	19584459	19584459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacagctccagaaggaaaCgtgatagagatgataactcc	16	6	11	8	1	0	4	0	2	0	2	2	7	2	6	2	2	3	1	2	2	4	2	rs570834372		TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr16:19584459C>T	ENST00000251143.5	+	4	316	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	C16orf62_ENST00000417362.2_Missense_Mutation_p.R102C|C16orf62_ENST00000538853.1_Missense_Mutation_p.R191C|C16orf62_ENST00000542263.1_Missense_Mutation_p.R191C|C16orf62_ENST00000438132.3_Missense_Mutation_p.R191C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	102						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						CAGAAGGAAACGTGATAGAGA	0.403													C|||	1	0.000199681	8e-04	0	5008	,	,		16375	0		0	False		,,,				2504	0						0.9998,0.0001997											0													130	128	129					16																	19584459		2197	4300	6497	SO:0001583	missense	0				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.304C>T	16.37:g.19584459C>T	ENSP00000251143:p.Arg102Cys		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	NULL	p.R191C	ENST00000251143.5	37	c.571		16	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971589	0.53614	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.49432	1.47;0.78;1.47;1.47;1.47	5.32	4.36	0.52297	.	0.294944	0.30419	N	0.009667	T	0.48502	0.1503	L	0.46157	1.445	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.995	P;B;P	0.50896	0.653;0.401;0.648	T	0.49082	-0.8976	10	0.56958	D	0.05	-6.1474	10.1933	0.43039	0.1539:0.6978:0.1483:0.0	.	191;102;191	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	C	191;191;191;102;102	ENSP00000400815:R191C;ENSP00000444363:R191C;ENSP00000442468:R191C;ENSP00000251143:R102C;ENSP00000395973:R102C	ENSP00000251143:R102C	R	+	1	0	C16orf62	19491960	1.000000	0.71417	0.975000	0.42487	0.374000	0.29953	2.882000	0.48546	1.212000	0.43366	0.557000	0.71058	CGT	0	NULL		0.403	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	protein_coding		83	262	0	0.00	0	0	C	NM_020314	rs570834372	C->T		19584459	1	no_errors	ENST00000438132	ensembl	human	known	74_37	missense	53	170	34.57	34.73	28	91	SNP	1	T	T	19584459	C	T	19584459	3	4	5	1	0	0	0	0	1	0	0	0	1825	536	19	1	318	1	C16orf62	16	19584459	Missense_Mutation	SNP	C	TCGA-3G-AB19-01A-21D-A423-09		19584459	70770294	16	60											
PQLC1	80148	genome.wustl.edu	37	chr18	77710752	77710753	+	In_Frame_Ins	INS	-	-	CAG																															atccgcaaaatgttggccacINScagcagcaccaggcacacgt																										TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	-	-	-	CAG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr18:77710752_77710753insCAG	ENST00000397778.2	-	2	356_357	c.174_175insCTG	c.(172-177)ctggtg>ctgCTGgtg	p.58_59insL	PQLC1_ENST00000590381.1_In_Frame_Ins_p.58_59insL|PQLC1_ENST00000357575.4_In_Frame_Ins_p.58_59insL|PQLC1_ENST00000409073.1_5'UTR	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	58	PQ-loop 1.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		ATGTTGGCCACCAGCAGCACCA	0.594																																							0											0																																										SO:0001652	inframe_insertion	0			AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.172_174dupCTG	18.37:g.77710756_77710758dupCAG	ENSP00000380880:p.Leu58_Leu58dup		B7Z7D9|G5E989|Q9H6D0	In_Frame_Ins	INS	smart_CTNS	p.58in_frame_insL	ENST00000397778.2	37	c.175_174	CCDS12020.1	18																																																																																			0	smart_CTNS		0.594	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PQLC1	protein_coding	OTTHUMT00000256434.1	44	267	0	0.37	0	1	0	NM_025078	0	0		77710753	-1	no_errors	ENST00000397778	ensembl	human	known	74_37	in_frame_ins	18	107	40	27.70	12	41	INS	1.000:1.000	CAG	CAG	77710753	-	CAG	77710752	7	5	5	1	0	1	1	0	0	0	0	0	12418	507	18	0	660	0	PQLC1	18	77710752	In_Frame_Ins	INS	-	TCGA-3G-AB19-01A-21D-A423-09		77710752	366496	17	61											
FAM108A1	81926	genome.wustl.edu	37	chr19	1881263	1881263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgcagcgaacatacatGcaggagacgcggttgccgcg	10	4	15	12	6	0	1	0	0	0	1	0	3	0	1	1	3	5	4	1	3	2	2			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr19:1881263G>A	ENST00000292577.7	-	2	736	c.303C>T	c.(301-303)tgC>tgT	p.C101C	ABHD17A_ENST00000590661.1_Silent_p.C101C|ABHD17A_ENST00000250974.9_Silent_p.C101C	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	101						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.C101C(3)									GAACATACATGCAGGAGACGC	0.662																																							0											3	Substitution - coding silent(3)	lung(2)|endometrium(1)											35	39	38					19																	1881263		2202	4299	6501	SO:0001819	synonymous_variant	0			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.303C>T	19.37:g.1881263G>A			A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	pfam_Dienelactn_hydro	p.C101	ENST00000292577.7	37	c.303	CCDS45902.1	19																																																																																			0	NULL		0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	protein_coding	OTTHUMT00000415556.2	66	12	1.49	0.00	1	0	G	NM_031213	0	0		1881263	-1	no_errors	ENST00000250974	ensembl	human	known	74_37	silent	65	10	7.14	0.00	5	0	SNP	1	A	A	1881263	G	A	1881263	2	1	5	1	0	0	0	0	0	0	0	1	5391	1311	46	3		3	FAM108A1	19	1881263	Silent	SNP	G	TCGA-3G-AB19-01A-21D-A423-09		1881263	57247720	18	62											
PABPC5	140886	genome.wustl.edu	37	chrX	90691713	90691713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaccctgggccaggccagGcgcaggtgctgagaataaga	10	5	15	11	1	1	2	1	1	0	2	1	3	1	2	3	4	1	2	3	4	2	1			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chrX:90691713G>T	ENST00000312600.3	+	2	1351	c.1137G>T	c.(1135-1137)agG>agT	p.R379S	PABPC5_ENST00000373105.1_Missense_Mutation_p.R215S|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	379						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GCCAGGCCAGGCGCAGGTGCT	0.498																																							0											0													19	18	19					X																	90691713		2200	4297	6497	SO:0001583	missense	0			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.1137G>T	X.37:g.90691713G>T	ENSP00000308012:p.Arg379Ser		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.R379S	ENST00000312600.3	37	c.1137	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151363	0.38021	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.25250	2.01;1.81	3.98	1.12	0.20585	.	0.051212	0.85682	D	0.000000	T	0.22282	0.0537	M	0.84156	2.68	0.31571	N	0.656302	P	0.36222	0.544	B	0.23150	0.044	T	0.24941	-1.0146	10	0.87932	D	0	.	3.6474	0.08189	0.2445:0.2041:0.5514:0.0	.	379	Q96DU9	PABP5_HUMAN	S	215;379;347	ENSP00000362197:R215S;ENSP00000308012:R379S	ENSP00000308012:R379S	R	+	3	2	PABPC5	90578369	1.000000	0.71417	0.970000	0.41538	0.922000	0.55478	2.736000	0.47385	0.098000	0.17522	0.544000	0.68410	AGG	0	tigrfam_PABP_1234		0.498	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	protein_coding	OTTHUMT00000057429.1	90	192	0	0.00	0	0	G	NM_080832	0	0		90691713	1	no_errors	ENST00000312600	ensembl	human	known	74_37	missense	36	158	40.98	31.30	25	72	SNP	0.99	T	T	90691713	G	T	90691713	3	4	5	1	0	0	0	0	1	0	0	0	11367	1194	42	5	1139	5	PABPC5	23	90691713	Missense_Mutation	SNP	G	TCGA-3G-AB19-01A-21D-A423-09		90691713	64578847	19	63											
AVPR2	554	genome.wustl.edu	37	chrX	153171714	153171714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcgccgcaggggacgcCggacaggcagccccggtgag	6	1	21	13	5	0	1	0	1	0	0	0	3	0	3	4	7	1	2	4	7	0	0	rs61733407|rs193922118	byFrequency	TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chrX:153171714C>T	ENST00000358927.2	+	3	963	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	AVPR2_ENST00000370049.1_Missense_Mutation_p.R252W|AVPR2_ENST00000337474.5_Missense_Mutation_p.R252W			P30518	V2R_HUMAN	arginine vasopressin receptor 2	252			R -> W (in dbSNP:rs61733407).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	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)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CAGGGGACGCCGGACAGGCAG	0.657													C|||	23	0.00609272	0.0166	0.0014	3775	,	,		13119	0		0	False		,,,				2504	0						0											0								C	TRP/ARG,TRP/ARG	88,3747		0,65,23,1567,548	77	69	72		754,754	2.1	0.1	X	dbSNP_129	72	0,6728		0,0,0,2428,1872	yes	missense,missense	AVPR2	NM_000054.4,NM_001146151.1	101,101	0,65,23,3995,2420	TT,TC,T,CC,C		0.0,2.2947,0.8331	probably-damaging,probably-damaging	252/372,252/310	153171714	88,10475	2203	4300	6503	SO:0001583	missense	0			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.754C>T	X.37:g.153171714C>T	ENSP00000351805:p.Arg252Trp		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.R252W	ENST00000358927.2	37	c.754	CCDS14735.1	X	10	0.006027727546714889	9	0.018367346938775512	0	0.0	0	0.0	0	0.0	c	11.56	1.676442	0.29783	0.022947	0.0	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.78707	-1.2;-0.96;-1.2;-0.61	4.13	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	1.368180	0.04734	N	0.421642	T	0.71651	0.3365	M	0.75777	2.31	0.37086	D	0.899212	D;P	0.60160	0.987;0.919	P;P	0.51453	0.663;0.67	T	0.70622	-0.4821	10	0.37606	T	0.19	-13.4909	7.9393	0.29948	0.1762:0.6535:0.1703:0.0	rs61733407	252;252	P30518-2;P30518	.;V2R_HUMAN	W	252	ENSP00000351805:R252W;ENSP00000393513:R252W;ENSP00000338072:R252W;ENSP00000359066:R252W	ENSP00000338072:R252W	R	+	1	2	AVPR2	152824908	0.064000	0.20934	0.056000	0.19401	0.032000	0.12392	1.303000	0.33470	0.636000	0.30508	0.263000	0.19301	CGG	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2		0.657	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR2	protein_coding	OTTHUMT00000061127.2	50	67	0	0.00	0	0	C		rs61733407	C->T		153171714	1	no_errors	ENST00000337474	ensembl	human	known	74_37	missense	6	34	53.85	28.57	7	14	SNP	0.706	T	T	153171714	C	T	153171714	3	4	5	1	0	0	0	0	1	0	0	0	1233	643	23	2	760	2	AVPR2	23	153171714	Missense_Mutation	SNP	C	TCGA-3G-AB19-01A-21D-A423-09	62480001	153171714	2098846	20	64											
LRP8	7804	genome.wustl.edu	37	chr1	53793511	53793512	+	Frame_Shift_Del	DEL	TG	TG	-																															ccgccgcaagatgctggagcTgcagcagcagcagcagcagc																								rs4926972	byFrequency	TCGA-3Q-A9WF-01A-11D-A423-09	TCGA-3Q-A9WF-10A-01D-A426-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9e39d9a-8ca1-46cb-a1f1-ea3be7a9cbaa	e6cf4c29-9b33-43b2-b2f9-3d8a96ef1e01	g.chr1:53793511_53793512delTG	ENST00000306052.6	-	1	174_175	c.73_74delCA	c.(73-75)cagfs	p.Q25fs	LRP8_ENST00000347547.2_Frame_Shift_Del_p.Q25fs|LRP8_ENST00000354412.3_Frame_Shift_Del_p.Q25fs|LRP8_ENST00000465675.1_5'Flank|LRP8_ENST00000371454.2_Frame_Shift_Del_p.Q25fs|RP4-784A16.5_ENST00000445039.2_lincRNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	25			Q -> R (in dbSNP:rs4926972). {ECO:0000269|PubMed:11152697, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8626535, ECO:0000269|PubMed:9079678}.		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						ATGCTGGagctgcagcagcagc	0.743																																							0											0									,,,	86,1452		31,24,714					,,,	2.5	0.1			2	78,3382		28,22,1680	no	frameshift,frameshift,frameshift,frameshift	LRP8	NM_033300.3,NM_017522.4,NM_004631.4,NM_001018054.2	,,,	59,46,2394	A1A1,A1R,RR		2.2543,5.5917,3.2813	,,,	,,,		164,4834				SO:0001589	frameshift_variant	0			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.73_74delCA	1.37:g.53793511_53793512delTG	ENSP00000303634:p.Gln25fs		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Frame_Shift_Del	DEL	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.Q25fs	ENST00000306052.6	37	c.74_73	CCDS578.1	1																																																																																			0	NULL		0.743	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	protein_coding	OTTHUMT00000024699.1	20	2	0	0.00	0	0	TG	NM_004631	0	0		53793512	-1	no_errors	ENST00000306052	ensembl	human	known	74_37	frame_shift_del	10	0	23.08	0.00	3	0	DEL	0.020:0.031	0	-	53793512	TG	-	53793511	7	5	6	1	0	1	0	1	0	0	0	0	8963	1580	55	0	2893	0	LRP8	1	53793511	Frame_Shift_Del	DEL	TG	TCGA-3Q-A9WF-01A-11D-A423-09		53793511	195457110	1	65	1	2									
LRP8	7804	genome.wustl.edu	37	chr1	53793514	53793514	+	Frame_Shift_Del	DEL	A	A	-																															ccgcaagatgctggagctgcAgcagcagcagcagcagcagc																										TCGA-3Q-A9WF-01A-11D-A423-09	TCGA-3Q-A9WF-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9e39d9a-8ca1-46cb-a1f1-ea3be7a9cbaa	e6cf4c29-9b33-43b2-b2f9-3d8a96ef1e01	g.chr1:53793514delA	ENST00000306052.6	-	1	172	c.71delT	c.(70-72)ctgfs	p.L24fs	LRP8_ENST00000347547.2_Frame_Shift_Del_p.L24fs|LRP8_ENST00000354412.3_Frame_Shift_Del_p.L24fs|LRP8_ENST00000465675.1_5'Flank|LRP8_ENST00000371454.2_Frame_Shift_Del_p.L24fs|RP4-784A16.5_ENST00000445039.2_lincRNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	24					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						CTGGagctgcagcagcagcag	0.751																																							0											0									,,,	38,1546		15,8,769					,,,		0.1			2	37,3441		16,5,1718	no	frameshift,frameshift,frameshift,frameshift	LRP8	NM_033300.3,NM_017522.4,NM_004631.4,NM_001018054.2	,,,	31,13,2487	A1A1,A1R,RR		1.0638,2.399,1.4816	,,,	,,,		75,4987				SO:0001589	frameshift_variant	0			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.71delT	1.37:g.53793514delA	ENSP00000303634:p.Leu24fs		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Frame_Shift_Del	DEL	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.L24fs	ENST00000306052.6	37	c.71	CCDS578.1	1																																																																																			0	NULL		0.751	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	protein_coding	OTTHUMT00000024699.1	19	2	0	0.00	0	0	A	NM_004631	0	0		53793514	-1	no_errors	ENST00000306052	ensembl	human	known	74_37	frame_shift_del	10	0	23.08	0.00	3	0	DEL	0.195	0	-	53793514	A	-	53793514	7	5	6	1	0	1	0	1	0	0	0	0	8963	188	7	0	2896	0	LRP8	1	53793514	Frame_Shift_Del	DEL	A	TCGA-3Q-A9WF-01A-11D-A423-09	3	53793514	195457107	2	66	1	2									
AHDC1	27245	genome.wustl.edu	37	chr1	27878369	27878370	+	Frame_Shift_Ins	INS	-	-	G																															agacaggacgggctgcccgtINSgggggcagcgggtcgtcccc																										TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr1:27878369_27878370insG	ENST00000247087.5	-	5	853_854	c.257_258insC	c.(256-258)ccafs	p.P86fs	AHDC1_ENST00000374011.2_Frame_Shift_Ins_p.P86fs			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	86	Pro-rich.						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)		GGGCTGCCCGTGGGGGCAGCGG	0.738																																							0											0																																										SO:0001589	frameshift_variant	0			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.258dupC	1.37:g.27878374_27878374dupG	ENSP00000247087:p.Pro86fs		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Frame_Shift_Ins	INS	NULL	p.R87fs	ENST00000247087.5	37	c.258_257	CCDS30652.1	1																																																																																			0	NULL		0.738	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	protein_coding	OTTHUMT00000009523.3	21	16	0	0.00	0	0	0		0	0		27878370	-1	no_errors	ENST00000247087	ensembl	human	known	74_37	frame_shift_ins	4	8	33.33	0.00	2	0	INS	0.012:0.992	G	G	27878370	-	G	27878369	7	5	7	1	0	1	1	0	0	0	0	0	412	1683	59	0	4557	0	AHDC1	1	27878369	Frame_Shift_Ins	INS	-	TCGA-3S-A8YW-01A-11D-A423-09		27878369	221372252	1	67											
PKN2	5586	genome.wustl.edu	37	chr1	89250347	89250347	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagttcgtcttatgggCtgccaagatatcctagagaa	11	12	11	7	1	1	2	0	0	1	2	3	4	2	3	2	2	1	2	2	2	6	5			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr1:89250347C>T	ENST00000370521.3	+	7	1370	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G	PKN2_ENST00000316005.7_Silent_p.G337G|PKN2_ENST00000544045.1_Silent_p.G11G|PKN2_ENST00000370505.3_Silent_p.G180G|PKN2_ENST00000370513.5_Silent_p.G337G	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	337	C2.				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)		GTCTTATGGGCTGCCAAGATA	0.413																																							0											0													79	75	76					1																	89250347		1890	4117	6007	SO:0001819	synonymous_variant	0			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.1011C>T	1.37:g.89250347C>T			B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	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_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.G337	ENST00000370521.3	37	c.1011	CCDS714.1	1																																																																																			0	superfamily_C2_dom,smart_C2_dom		0.413	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	protein_coding	OTTHUMT00000027828.3	68	211	0	0.00	0	0	C	NM_006256	0	0		89250347	1	no_errors	ENST00000370521	ensembl	human	known	74_37	silent	43	121	31.75	45.05	20	100	SNP	1	T	T	89250347	C	T	89250347	2	4	7	1	0	0	0	0	0	0	0	1	11980	784	28	3		3	PKN2	1	89250347	Silent	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09	61371978	89250347	160000274	2	68											
TNR	7143	genome.wustl.edu	37	chr1	175372743	175372743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcagtgagggatatagTccagttgtcctggaatggtc	9	11	13	8	0	0	1	0	1	0	0	3	3	2	3	2	3	1	2	2	3	3	3			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr1:175372743T>C	ENST00000367674.2	-	4	1217	c.509A>G	c.(508-510)gAc>gGc	p.D170G	TNR_ENST00000263525.2_Missense_Mutation_p.D170G			Q92752	TENR_HUMAN	tenascin R	170	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)					AGGGATATAGTCCAGTTGTCC	0.537																																							0											0													67	69	68					1																	175372743		2203	4300	6503	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.509A>G	1.37:g.175372743T>C	ENSP00000356646:p.Asp170Gly		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.D170G	ENST00000367674.2	37	c.509	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854549	0.71719	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.11385	2.78;2.78	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.10121	0.0248	L	0.28608	0.87	0.80722	D	1	P;P	0.40731	0.728;0.722	B;B	0.36719	0.138;0.231	T	0.07328	-1.0778	10	0.48119	T	0.1	.	16.2061	0.82131	0.0:0.0:0.0:1.0	.	170;170	B4DIX8;Q92752	.;TENR_HUMAN	G	170	ENSP00000356646:D170G;ENSP00000263525:D170G	ENSP00000263525:D170G	D	-	2	0	TNR	173639366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.901000	0.87382	2.311000	0.77944	0.533000	0.62120	GAC	0	NULL		0.537	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	47	160	0	0.00	0	0	T	NM_003285	0	0		175372743	-1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	29	130	44.23	44.73	23	106	SNP	1	C	C	175372743	T	C	175372743	3	2	7	1	0	0	0	0	1	0	0	0	16335	1667	58	3	3647	3	TNR	1	175372743	Missense_Mutation	SNP	T	TCGA-3S-A8YW-01A-11D-A423-09	86122396	175372743	73877878	3	69											
EFCAB2	84288	genome.wustl.edu	37	chr1	245285221	245285221	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttattttattttattttaGatggagtttcgctccgtcgc	6	22	7	6	3	0	1	0	0	0	1	3	2	1	2	1	1	0	2	1	1	4	9			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr1:245285221G>T	ENST00000366522.2	+	8	922		c.e8-1		EFCAB2_ENST00000487845.1_Splice_Site|EFCAB2_ENST00000447569.2_Splice_Site			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2								calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			ttttattttagatggagtttc	0.423																																							0											0																																										SO:0001630	splice_region_variant	0			AB209286	CCDS31082.1, CCDS44341.1	1q44	2014-07-18			ENSG00000203666	ENSG00000203666		"EF-hand domain containing"	28166	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 8"					23427265	Standard	NM_032328		Approved	MGC12458, DRC8, CFAP200	uc001ibc.2	Q5VUJ9	OTTHUMG00000040474	ENST00000366522.2:c.782-1G>T	1.37:g.245285221G>T			B4DZE9|Q59G23|Q9BS36	Splice_Site	SNP	0	e8-1	ENST00000366522.2	37	c.782-1		1																																																																																			0	0		0.423	EFCAB2-001	KNOWN	basic	protein_coding	EFCAB2	protein_coding	OTTHUMT00000097407.2	8	0	0	0.00	0	0	G		0	0	Intron	245285221	1	no_errors	ENST00000366522	ensembl	human	known	74_37	splice_site	20	0	16.67	0.00	4	0	SNP	0.009	T	T	245285221	G	T	245285221	5	4	7	1	0	0	0	0	0	0	1	0	4934	956	33	5	519	5	EFCAB2	1	245285221	Splice_Site	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09	69912478	245285221	3965400	4	70											
IQSEC1	9922	genome.wustl.edu	37	chr3	12944297	12944297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgctctctagcgatccCgcactgctgcgacgccctcg	6	9	9	17	5	1	0	0	0	1	0	4	2	2	0	2	0	4	3	2	0	1	2			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr3:12944297C>T	ENST00000273221.4	-	13	3039	c.2823G>A	c.(2821-2823)gcG>gcA	p.A941A		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	941					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)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTAGCGATCCCGCACTGCTGC	0.592																																							0											0													86	68	75					3																	12944297		2203	4300	6503	SO:0001819	synonymous_variant	0			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2823G>A	3.37:g.12944297C>T			O94863|Q96D85	Silent	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.A941	ENST00000273221.4	37	c.2823	CCDS33703.1	3																																																																																			0	NULL		0.592	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	protein_coding	OTTHUMT00000339865.2	42	107	0	0.00	0	0	C	NM_014869	0	0		12944297	-1	no_errors	ENST00000273221	ensembl	human	known	74_37	silent	21	63	27.59	36.36	8	36	SNP	1	T	T	12944297	C	T	12944297	2	4	7	1	0	0	0	0	0	0	0	1	7817	639	23	2		2	IQSEC1	3	12944297	Silent	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09		12944297	185078133	5	71											
TMIE	259236	genome.wustl.edu	37	chr3	46751098	46751098	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagaagaagaagaagAaggacagtgtggacacagtg	20	3	15	3	0	0	7	0	0	0	7	0	9	0	9	0	2	0	0	0	2	7	0	rs397517868|rs201683042		TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr3:46751098A>G	ENST00000326431.3	+	4	546	c.391A>G	c.(391-393)Aag>Gag	p.K131E		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)		gaagaagaagaagGACAGTGT	0.507																																							0											0													106	113	111					3																	46751098		1971	4153	6124	SO:0001583	missense	0			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.391A>G	3.37:g.46751098A>G	ENSP00000324775:p.Lys131Glu		A0AV93|A8K0R0	Missense_Mutation	SNP	NULL	p.K131E	ENST00000326431.3	37	c.391	CCDS43081.1	3	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306538	0.40795	.	.	ENSG00000181585	ENST00000326431	D	0.90844	-2.74	4.45	4.45	0.53987	.	1.302480	0.07113	U	0.842482	D	0.89976	0.6871	L	0.43152	1.355	0.28604	N	0.909003	P	0.51933	0.949	P	0.49953	0.627	T	0.80562	-0.1327	10	0.28530	T	0.3	-16.4732	10.3173	0.43745	1.0:0.0:0.0:0.0	.	131	Q8NEW7	TMIE_HUMAN	E	131	ENSP00000324775:K131E	ENSP00000324775:K131E	K	+	1	0	TMIE	46726102	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.575000	0.46025	1.988000	0.58038	0.533000	0.62120	AAG	0	NULL		0.507	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIE	protein_coding	OTTHUMT00000313853.1	35	107	0	1.83	0	2	A	NM_147196	rs201683042	A->G		46751098	1	no_errors	ENST00000326431	ensembl	human	known	74_37	missense	24	80	11.11	4.71	3	4	SNP	1	G	G	46751098	A	G	46751098	3	3	7	1	0	0	0	0	1	0	0	0	16226	247	9	3	405	3	TMIE	3	46751098	Missense_Mutation	SNP	A	TCGA-3S-A8YW-01A-11D-A423-09	33806801	46751098	151271332	6	72											
CCDC51	79714	genome.wustl.edu	37	chr3	48474247	48474247	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcatgtaccaggcccctCaagtccaccatgagattgtg	10	8	10	13	0	1	1	1	1	0	1	2	2	2	1	5	1	2	3	5	1	2	2			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr3:48474247C>G	ENST00000395694.2	-	4	892	c.807G>C	c.(805-807)ttG>ttC	p.L269F	PLXNB1_ENST00000296440.6_5'Flank|CCDC51_ENST00000412398.2_Missense_Mutation_p.L160F|CCDC51_ENST00000442740.1_Missense_Mutation_p.L160F|CCDC51_ENST00000447018.1_Missense_Mutation_p.L160F|CCDC51_ENST00000395696.1_Missense_Mutation_p.L269F|PLXNB1_ENST00000448774.2_5'Flank	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	269						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)		CCAGGCCCCTCAAGTCCACCA	0.602																																							0											0													69	74	72					3																	48474247		1974	4144	6118	SO:0001583	missense	0			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.807G>C	3.37:g.48474247C>G	ENSP00000379047:p.Leu269Phe		Q9HA01	Missense_Mutation	SNP	NULL	p.L269F	ENST00000395694.2	37	c.807	CCDS2766.2	3	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690004	0.29962	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740	T;T;T;T;T	0.61859	0.15;0.07;0.15;0.07;0.15	5.53	3.37	0.38596	.	0.068074	0.64402	D	0.000010	T	0.46502	0.1396	L	0.40543	1.245	0.32970	D	0.522173	P	0.38078	0.617	B	0.38712	0.28	T	0.59815	-0.7383	10	0.52906	T	0.07	-1.7511	8.235	0.31620	0.1332:0.6947:0.0:0.1721	.	269	Q96ER9	CCD51_HUMAN	F	160;269;160;269;160	ENSP00000412300:L160F;ENSP00000379047:L269F;ENSP00000401194:L160F;ENSP00000379049:L269F;ENSP00000392898:L160F	ENSP00000379047:L269F	L	-	3	2	CCDC51	48449251	0.894000	0.30519	1.000000	0.80357	0.672000	0.39443	0.020000	0.13466	1.150000	0.42419	0.655000	0.94253	TTG	0	NULL		0.602	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC51	protein_coding	OTTHUMT00000344599.2	22	125	0	0.00	0	0	C	NM_024661	0	0		48474247	-1	no_errors	ENST00000395694	ensembl	human	known	74_37	missense	11	42	31.25	48.81	5	41	SNP	0.339	G	G	48474247	C	G	48474247	3	3	7	1	0	0	0	0	1	0	0	0	2821	825	29	5	432	5	CCDC51	3	48474247	Missense_Mutation	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09	1723149	48474247	149548183	7	73											
MAD2L1	4085	genome.wustl.edu	37	chr4	120986968	120986968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atataaaatgctgttgatgcCgaatgctgcaagcaaaagaa	17	9	9	6	1	0	2	0	1	0	1	0	3	0	2	1	0	5	5	1	0	8	3			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr4:120986968C>T	ENST00000296509.6	-	2	418	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	RP11-679C8.2_ENST00000511064.1_RNA|RP11-679C8.2_ENST00000504106.1_RNA|RP11-679C8.2_ENST00000508362.1_RNA|RP11-679C8.2_ENST00000503073.1_RNA	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	27	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CTGTTGATGCCGAATGCTGCA	0.353																																							0											0													66	66	66					4																	120986968		2203	4300	6503	SO:0001583	missense	0			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.79G>A	4.37:g.120986968C>T	ENSP00000296509:p.Gly27Ser		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.G27S	ENST00000296509.6	37	c.79	CCDS3715.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.082422	0.94050	.	.	ENSG00000164109	ENST00000296509	.	.	.	4.78	4.78	0.61160	DNA-binding HORMA (4);	0.049888	0.85682	D	0.000000	T	0.66396	0.2785	L	0.38692	1.165	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.81914	0.804;0.995	T	0.60596	-0.7232	9	0.18276	T	0.48	-13.5003	18.1808	0.89777	0.0:1.0:0.0:0.0	.	27;27	Q8IZX3;Q13257	.;MD2L1_HUMAN	S	27	.	ENSP00000296509:G27S	G	-	1	0	MAD2L1	121206416	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.334000	0.79224	2.341000	0.79615	0.655000	0.94253	GGC	0	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd		0.353	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L1	protein_coding	OTTHUMT00000256525.2	64	146	0	0.00	0	0	C		0	0		120986968	-1	no_errors	ENST00000296509	ensembl	human	known	74_37	missense	73	127	25.51	16.99	25	26	SNP	1	T	T	120986968	C	T	120986968	3	4	7	1	0	0	0	0	1	0	0	0	9148	652	23	2	554	2	MAD2L1	4	120986968	Missense_Mutation	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09		120986968	70167308	8	74											
GALNTL6	442117	genome.wustl.edu	37	chr4	173942726	173942726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaacagccccgttacaCtctatgactgtcatggcatg	11	9	7	14	1	2	1	1	1	1	0	2	1	2	1	2	1	3	2	2	1	3	2			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr4:173942726C>T	ENST00000506823.1	+	12	2245	c.1588C>T	c.(1588-1590)Ctc>Ttc	p.L530F	GALNTL6_ENST00000508122.1_Missense_Mutation_p.L513F	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	530	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)			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						CCCCGTTACACTCTATGACTG	0.478																																							0											0													159	152	155					4																	173942726		2203	4300	6503	SO:0001583	missense	0				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.1588C>T	4.37:g.173942726C>T	ENSP00000423313:p.Leu530Phe		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.L530F	ENST00000506823.1	37	c.1588	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216529	0.58452	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.37411	1.2;1.2	5.81	5.81	0.92471	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.64402	D	0.000004	T	0.56337	0.1978	L	0.60012	1.86	0.80722	D	1	P	0.51351	0.944	P	0.59703	0.862	T	0.53436	-0.8439	10	0.59425	D	0.04	.	20.0817	0.97778	0.0:1.0:0.0:0.0	.	530	Q49A17	GLTL6_HUMAN	F	530;513	ENSP00000423313:L530F;ENSP00000423827:L513F	ENSP00000423313:L530F	L	+	1	0	GALNTL6	174179301	1.000000	0.71417	0.737000	0.30932	0.021000	0.10359	7.458000	0.80787	2.743000	0.94032	0.650000	0.86243	CTC	0	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.478	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	protein_coding	OTTHUMT00000362395.1	47	113	0	0.00	0	0	C	NM_001034845	0	0		173942726	1	no_errors	ENST00000506823	ensembl	human	known	74_37	missense	28	140	20	22.65	7	41	SNP	1	T	T	173942726	C	T	173942726	3	4	7	1	0	0	0	0	1	0	0	0	6225	565	20	3	1630	3	GALNTL6	4	173942726	Missense_Mutation	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09	52955758	173942726	17211550	9	75											
EFHC1	114327	genome.wustl.edu	37	chr6	52344482	52344482	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatacagacgagtatgttTtgaaatacatggagagcaac	15	11	10	5	1	0	4	0	2	0	2	0	6	0	4	0	1	4	3	0	1	5	6			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr6:52344482T>C	ENST00000371068.5	+	9	1640	c.1537T>C	c.(1537-1539)Ttg>Ctg	p.L513L	EFHC1_ENST00000433625.2_Silent_p.L422L|EFHC1_ENST00000538167.1_Silent_p.L494L	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	513	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CGAGTATGTTTTGAAATACAT	0.488																																							0											0													170	166	168					6																	52344482		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1537T>C	6.37:g.52344482T>C			B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom	p.L513	ENST00000371068.5	37	c.1537	CCDS4942.1	6																																																																																			0	smart_Uncharacterised_DM10		0.488	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHC1	protein_coding	OTTHUMT00000040905.2	81	174	0	0.00	0	0	T	NM_018100	0	0		52344482	1	no_errors	ENST00000371068	ensembl	human	known	74_37	silent	39	110	40	30.82	26	49	SNP	0.104	C	C	52344482	T	C	52344482	2	2	7	1	0	0	0	0	0	0	0	1	4946	1838	64	3		3	EFHC1	6	52344482	Silent	SNP	T	TCGA-3S-A8YW-01A-11D-A423-09		52344482	118770585	10	76											
TBX18	9096	genome.wustl.edu	37	chr6	85453986	85453986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactaaggcccacctgttgcGcccggagtctcggaagcctt	7	8	11	15	3	1	0	0	0	1	0	2	2	1	2	4	3	2	1	4	3	2	3			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr6:85453986G>A	ENST00000369663.5	-	6	1334	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	TBX18_ENST00000606784.1_Missense_Mutation_p.R175C|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	333					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)	p.R333C(2)		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)		CACCTGTTGCGCCCGGAGTCT	0.338																																							0											2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											47	47	47					6																	85453986		2203	4299	6502	SO:0001583	missense	0			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.997C>T	6.37:g.85453986G>A	ENSP00000358677:p.Arg333Cys		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.R333C	ENST00000369663.5	37	c.997	CCDS34495.1	6	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107078	0.77096	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	T	0.80909	-1.43	5.92	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65874	0.932;0.939	D	0.83916	0.0298	10	0.72032	D	0.01	.	15.2612	0.73625	0.0:0.0:0.836:0.1639	.	249;333	Q8IW86;O95935	.;TBX18_HUMAN	C	248;333	ENSP00000358677:R333C	ENSP00000358677:R333C	R	-	1	0	TBX18	85510705	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	4.813000	0.62620	1.409000	0.46915	0.650000	0.86243	CGC	0	smart_TF_T-box		0.338	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	protein_coding	OTTHUMT00000041378.2	63	240	0	0.83	0	2	G	NM_001080508	0	0		85453986	-1	no_errors	ENST00000369663	ensembl	human	known	74_37	missense	34	118	34.62	32.18	18	56	SNP	1	A	A	85453986	G	A	85453986	3	1	7	1	0	0	0	0	1	0	0	0	15650	1087	38	1	838	1	TBX18	6	85453986	Missense_Mutation	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09	33109504	85453986	85661081	11	77											
GJB7	375519	genome.wustl.edu	37	chr6	87994415	87994415	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggcccaaagtctgacttgGgaaatggggaagaagtcatc	14	7	13	7	0	2	2	1	1	1	1	3	4	2	4	1	4	0	0	1	4	5	1			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr6:87994415G>C	ENST00000525899.1	-	3	561	c.216C>G	c.(214-216)tcC>tcG	p.S72S	GJB7_ENST00000296882.3_Silent_p.S72S	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	72					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GTCTGACTTGGGAAATGGGGA	0.458																																							0											0													118	111	113					6																	87994415		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"Ion channels / Gap junction proteins (connexins)"	16690	protein-coding gene	gene with protein product	"connexin 25"	611921	"gap junction protein, beta 7"				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.216C>G	6.37:g.87994415G>C			B3KXL0|Q96KP0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.S72	ENST00000525899.1	37	c.216	CCDS5008.1	6																																																																																			0	pfam_Connexin_N,smart_Connexin_N,prints_Connexin		0.458	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB7	protein_coding	OTTHUMT00000394780.1	34	242	0	0.00	0	0	G		0	0		87994415	-1	no_errors	ENST00000296882	ensembl	human	known	74_37	silent	17	140	37.04	36.65	10	81	SNP	0.999	C	C	87994415	G	C	87994415	2	2	7	1	0	0	0	0	0	0	0	1	6413	1219	43	5		5	GJB7	6	87994415	Silent	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09	2540429	87994415	83120652	12	78											
REV3L	5980	genome.wustl.edu	37	chr6	111726735	111726735	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaattcatgccataaagaTtgtagtcaatgaagagctgt	15	13	8	5	0	2	3	2	1	0	2	2	3	2	3	1	0	2	2	1	0	7	5	rs547946785		TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr6:111726735T>C	ENST00000358835.3	-	5	957	c.503A>G	c.(502-504)aAt>aGt	p.N168S	REV3L_ENST00000368802.3_Missense_Mutation_p.N168S|REV3L_ENST00000368805.1_Missense_Mutation_p.N168S|REV3L_ENST00000435970.1_Missense_Mutation_p.N90S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	168					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)		GCCATAAAGATTGTAGTCAAT	0.353								DNA polymerases (catalytic subunits)					T|||	1	0.000199681	0	0.0014	5008	,	,		13012	0		0	False		,,,				2504	0						0.9998,0.0001997											0													124	130	128					6																	111726735		2203	4300	6503	SO:0001583	missense	0			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.503A>G	6.37:g.111726735T>C	ENSP00000351697:p.Asn168Ser		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.N168S	ENST00000358835.3	37	c.503	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	T	27.4	4.827801	0.90955	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.50277	4.67;4.67;4.67;0.75	5.47	5.47	0.80525	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.041485	0.85682	D	0.000000	T	0.62502	0.2433	M	0.75777	2.31	0.44643	D	0.997629	D	0.89917	1.0	D	0.87578	0.998	T	0.67987	-0.5528	10	0.66056	D	0.02	-9.0345	15.5398	0.76035	0.0:0.0:0.0:1.0	.	168	O60673	DPOLZ_HUMAN	S	168;168;168;90	ENSP00000357792:N168S;ENSP00000357795:N168S;ENSP00000351697:N168S;ENSP00000402003:N90S	ENSP00000351697:N168S	N	-	2	0	REV3L	111833428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.078000	0.62432	0.477000	0.44152	AAT	0	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom		0.353	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	protein_coding	OTTHUMT00000043695.1	78	210	0	0.00	0	0	T	NM_002912	rs547946785	T->C		111726735	-1	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	44	108	27.87	40.00	17	72	SNP	1	C	C	111726735	T	C	111726735	3	2	7	1	0	0	0	0	1	0	0	0	13240	1493	52	3	9005	3	REV3L	6	111726735	Missense_Mutation	SNP	T	TCGA-3S-A8YW-01A-11D-A423-09	23732320	111726735	59388332	13	79											
OPRM1	4988	genome.wustl.edu	37	chr6	154412608	154412608	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatagaactaatcatcagGtacgcagtctctagaattag	14	11	9	7	1	3	2	2	0	1	2	4	3	3	3	0	2	2	2	0	2	7	5	rs201410932		TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr6:154412608G>T	ENST00000330432.7	+	3	1401		c.e3+1		OPRM1_ENST00000524163.1_Splice_Site|OPRM1_ENST00000520708.1_Splice_Site|OPRM1_ENST00000522236.1_Splice_Site|OPRM1_ENST00000518759.1_Splice_Site|OPRM1_ENST00000435918.2_Splice_Site|OPRM1_ENST00000419506.2_Splice_Site|OPRM1_ENST00000414028.2_Splice_Site|OPRM1_ENST00000452687.2_Splice_Site|OPRM1_ENST00000522555.1_Splice_Site|OPRM1_ENST00000434900.2_Splice_Site|OPRM1_ENST00000360422.4_Splice_Site|OPRM1_ENST00000428397.2_Missense_Mutation_p.V389L|OPRM1_ENST00000229768.5_Splice_Site|OPRM1_ENST00000337049.4_Splice_Site	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						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)	TAATCATCAGGTACGCAGTCT	0.403																																							0											0													33	34	34					6																	154412608		1788	3873	5661	SO:0001630	splice_region_variant	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1164+1G>T	6.37:g.154412608G>T			B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Splice_Site	SNP	0	e4+1	ENST00000330432.7	37	c.1443+1	CCDS55070.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.034336|4.034336	0.75617|0.75617	.|.	.|.	ENSG00000112038|ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236|ENST00000428397	.|T	.|0.69435	.|-0.4	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44540	.|0.1298	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.06405	.|0.0;0.002	.|T	.|0.36163	.|-0.9759	.|7	.|.	.|.	.|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|289;389	.|Q6UPP1;P35372-2	.|.;.	.|L	-1|389	.|ENSP00000411903:V389L	.|.	.|V	+|+	.|1	.|0	OPRM1|OPRM1	154454301|154454301	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	9.504000|9.504000	0.97986|0.97986	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	.|GTA	0	0		0.403	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	protein_coding	OTTHUMT00000042786.2	25	239	0	0.00	0	0	G	NM_000914	0	0	Intron	154412608	1	no_errors	ENST00000434900	ensembl	human	known	74_37	splice_site	32	171	8.57	6.99	3	13	SNP	1	T	T	154412608	G	T	154412608	5	4	7	1	0	0	0	0	0	0	1	0	10887	1275	44	5	1509	5	OPRM1	6	154412608	Splice_Site	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09	42685873	154412608	16702459	14	80											
GET4	51608	genome.wustl.edu	37	chr7	927107	927107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgggggctccgggaaGctgggccacccccggctgca	5	5	16	15	2	0	0	0	0	0	0	2	1	2	1	5	5	2	4	5	5	1	0			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr7:927107G>T	ENST00000265857.3	+	4	511	c.417G>T	c.(415-417)aaG>aaT	p.K139N	RP11-449P15.2_ENST00000609998.1_RNA|GET4_ENST00000407192.1_Missense_Mutation_p.K86N	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	139					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCTCCGGGAAGCTGGGCCACC	0.642																																							0											0													57	60	59					7																	927107		2202	4300	6502	SO:0001583	missense	0			AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"CGI-20 protein", "conserved edge protein", "transmembrane domain recognition complex, 35kDa"	612056	"chromosome 7 open reading frame 20"	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.417G>T	7.37:g.927107G>T	ENSP00000265857:p.Lys139Asn		A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	pfam_UPF0363	p.K139N	ENST00000265857.3	37	c.417	CCDS5317.1	7	.	.	.	.	.	.	.	.	.	.	g	20.6	4.014364	0.75161	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000441491;ENST00000426056	.	.	.	5.57	2.08	0.27032	.	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.67953	2.075	0.80722	D	1	D	0.60160	0.987	P	0.60012	0.867	T	0.59236	-0.7492	9	0.27785	T	0.31	-6.023	6.6808	0.23119	0.7352:0.0:0.2648:0.0	.	139	Q7L5D6	GET4_HUMAN	N	139;93;86;151;100	.	ENSP00000265857:K139N	K	+	3	2	GET4	893633	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.826000	0.27407	0.587000	0.29643	0.556000	0.70494	AAG	0	pfam_UPF0363		0.642	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GET4	protein_coding	OTTHUMT00000231930.1	67	106	0	0.00	0	0	G	NM_015949	0	0		927107	1	no_errors	ENST00000265857	ensembl	human	known	74_37	missense	35	47	43.55	24.19	27	15	SNP	1	T	T	927107	G	T	927107	3	4	7	1	0	0	0	0	1	0	0	0	6336	962	34	5	431	5	GET4	7	927107	Missense_Mutation	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09		927107	158211556	15	81											
RSPH10B	222967	genome.wustl.edu	37	chr7	5983557	5983557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaccttttatctggaaggCatttggacgaatgttctcgg	8	16	10	7	2	2	0	0	0	2	0	3	3	2	2	1	4	1	2	1	4	4	6			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr7:5983557C>T	ENST00000405415.1	-	13	1980	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	RSPH10B_ENST00000535104.1_Intron|RSPH10B_ENST00000404406.1_Missense_Mutation_p.A532T|RSPH10B_ENST00000539903.1_Intron|RSPH10B_ENST00000337579.3_Missense_Mutation_p.A532T|RSPH10B_ENST00000441023.2_Missense_Mutation_p.A532T			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	532										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		ATCTGGAAGGCATTTGGACGA	0.388																																							0											0													49	44	46					7																	5983557		2175	4276	6451	SO:0001583	missense	0				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.1594G>A	7.37:g.5983557C>T	ENSP00000385443:p.Ala532Thr		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.A532T	ENST00000405415.1	37	c.1594	CCDS34598.1	7	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362714	0.61403	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000354951;ENST00000441023	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	3.71	2.79	0.32731	.	0.077164	0.49916	D	0.000126	T	0.75532	0.3862	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.921;0.998	T	0.77464	-0.2578	10	0.72032	D	0.01	.	9.0475	0.36356	0.0:0.8827:0.0:0.1173	.	532;391	P0C881;F5GXE3	R10B1_HUMAN;.	T	532;532;532;391;532	ENSP00000385443:A532T;ENSP00000384097:A532T;ENSP00000338556:A532T;ENSP00000400988:A532T	ENSP00000338556:A532T	A	-	1	0	RSPH10B	5950083	1.000000	0.71417	0.991000	0.47740	0.880000	0.50808	2.825000	0.48096	1.775000	0.52247	0.551000	0.68910	GCC	0	NULL		0.388	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B	protein_coding	OTTHUMT00000325465.2	93	123	0	0.00	0	0	C	NM_173565	0	0		5983557	-1	no_errors	ENST00000337579	ensembl	human	known	74_37	missense	56	92	27.27	26.19	21	33	SNP	1	T	T	5983557	C	T	5983557	3	4	7	1	0	0	0	0	1	0	0	0	13703	710	25	3	1050	3	RSPH10B	7	5983557	Missense_Mutation	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09	5056450	5983557	153155106	16	82											
MPP6	51678	genome.wustl.edu	37	chr7	24727232	24727232	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaatcagctgggtttactGatgattcagtaaggttaaca	12	12	9	8	0	2	2	2	2	0	0	2	2	2	2	1	2	3	4	1	2	4	5			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr7:24727232G>C	ENST00000222644.5	+	12	1872	c.1622G>C	c.(1621-1623)tGa>tCa	p.*541S	MPP6_ENST00000396475.2_Nonstop_Mutation_p.*541S|MPP6_ENST00000409761.1_Nonstop_Mutation_p.*429S			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGGGTTTACTGATGATTCAGT	0.343																																							0											0													95	103	100					7																	24727232		2203	4300	6503	SO:0001578	stop_lost	0			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1622G>C	7.37:g.24727232G>C	ENSP00000222644:p.*541Serext*1		B2RAF0	Nonstop_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.*541S	ENST00000222644.5	37	c.1622	CCDS5388.1	7	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584353	0.86748	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.26203	N	0.979417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4447	0.99122	0.0:0.0:1.0:0.0	.	.	.	.	S	541;429;541	.	.	X	+	2	2	MPP6	24693757	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.834000	0.97654	0.655000	0.94253	TGA	0	NULL		0.343	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP6	protein_coding	OTTHUMT00000250272.4	75	224	0	0.00	0	0	G		0	0		24727232	1	no_errors	ENST00000222644	ensembl	human	known	74_37	nonstop	43	188	20.37	19.23	11	45	SNP	1	C	C	24727232	G	C	24727232	4	2	7	1	0	0	0	0	0	0	0	0	9738	1285	45	5	1664	5	MPP6	7	24727232	Nonstop_Mutation	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09	18743675	24727232	134411431	17	83											
MSR1	4481	genome.wustl.edu	37	chr8	16026357	16026357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaactaactgagcaattcttCgtttcccacttcaggagttg	10	13	8	10	1	2	1	1	1	1	0	4	3	3	2	1	1	3	3	1	1	3	6			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr8:16026357C>T	ENST00000262101.5	-	4	361	c.240G>A	c.(238-240)acG>acA	p.T80T	MSR1_ENST00000350896.3_Silent_p.T80T|MSR1_ENST00000445506.2_Silent_p.T98T|MSR1_ENST00000381998.4_Silent_p.T80T|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Silent_p.T80T			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	80	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGCAATTCTTCGTTTCCCACT	0.383																																							0											0													124	118	120					8																	16026357		2203	4300	6503	SO:0001819	synonymous_variant	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.240G>A	8.37:g.16026357C>T			D3DSP3|O60505|P21759|Q45F10	Silent	SNP	pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR	p.T80	ENST00000262101.5	37	c.240	CCDS5995.1	8																																																																																			0	NULL		0.383	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	protein_coding	OTTHUMT00000211627.2	45	183	0	0.00	0	0	C		0	0		16026357	-1	no_errors	ENST00000262101	ensembl	human	known	74_37	silent	13	119	58.06	52.38	18	132	SNP	0.992	T	T	16026357	C	T	16026357	2	4	7	1	0	0	0	0	0	0	0	1	9886	871	31	2		2	MSR1	8	16026357	Silent	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09		16026357	130337665	18	84											
GEM	2669	genome.wustl.edu	37	chr8	95262574	95262574	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcaggatttggacttGagcttgaaggccatattctt	9	14	11	7	0	2	2	1	2	1	0	2	4	2	4	1	4	1	2	1	4	2	6	rs142606096		TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr8:95262574G>T	ENST00000297596.2	-	5	1119	c.855C>A	c.(853-855)ctC>ctA	p.L285L	GEM_ENST00000396194.2_Silent_p.L285L	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	285	Calmodulin-binding. {ECO:0000250}.				cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATTTGGACTTGAGCTTGAAGG	0.527																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)		0											0													157	136	143					8																	95262574		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"kinase-inducible Ras-like protein"	600164	"GTP-binding protein overexpressed in skeletal muscle"			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.855C>A	8.37:g.95262574G>T			B2RA31	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L285	ENST00000297596.2	37	c.855	CCDS6261.1	8																																																																																			0	pirsf_Small_GTPase_GEM/REM/Rad		0.527	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEM	protein_coding	OTTHUMT00000378566.1	53	188	0	0.53	0	1	G	NM_181702	0	0		95262574	-1	no_errors	ENST00000297596	ensembl	human	known	74_37	silent	78	314	22.77	16.71	23	63	SNP	1	T	T	95262574	G	T	95262574	2	4	7	1	0	0	0	0	0	0	0	1	6329	1277	45	5		5	GEM	8	95262574	Silent	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09	79236217	95262574	51101448	19	85											
CDKN2A	1029	genome.wustl.edu	37	chr9	21974777	21974780	+	Frame_Shift_Del	DEL	GCCA	GCCA	-																															gaccccgggccgcggccgtgGccagccagtcagccgaaggc																								rs587782206		TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	GCCA	GCCA	GCCA	-	GCCA	GCCA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr9:21974777_21974780delGCCA	ENST00000304494.5	-	1	317_320	c.47_50delTGGC	c.(46-51)ctggccfs	p.LA16fs	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		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.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(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)		CGCGGCCGTGGCCAGCCAGTCAGC	0.755		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																													0											1352	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(6)|Substitution - Missense(4)|Insertion - In frame(2)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(279)|skin(170)|central_nervous_system(164)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|pancreas(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM023346|CM980321	CDKN2A	M																																				SO:0001589	frameshift_variant	0			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.47_50delTGGC	9.37:g.21974781_21974784delGCCA	ENSP00000307101:p.Leu16fs		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.L16fs	ENST00000304494.5	37	c.50_47	CCDS6510.1	9																																																																																			0	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.755	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	protein_coding	OTTHUMT00000051915.1	37	71	0	0.00	0	0	GCCA	NM_000077	rs587782206	GGCCA->G		21974780	-1	no_errors	ENST00000446177	ensembl	human	known	74_37	frame_shift_del	6	25	72.73	41.86	16	18	DEL	0.001:0.000:0.027:0.068	0	-	21974780	GCCA	-	21974777	7	5	7	1	0	1	0	1	0	0	0	0	3161	1203	42	0	633	0	CDKN2A	9	21974777	Frame_Shift_Del	DEL	GCCA	TCGA-3S-A8YW-01A-11D-A423-09		21974777	119238654	20	86											
ERP44	23071	genome.wustl.edu	37	chr9	102784465	102784465	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccattacgaaacaatttGagggttgggtatttgcttat	11	15	9	6	1	0	1	0	1	0	0	1	2	1	1	1	2	3	3	1	2	5	6			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr9:102784465G>T	ENST00000262455.6	-	5	529	c.330C>A	c.(328-330)ctC>ctA	p.L110L		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	110	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						GAAACAATTTGAGGGTTGGGT	0.408																																							0											0													145	136	139					9																	102784465		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"Protein disulfide isomerases"	18311	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 10"	609170	"thioredoxin domain containing 4 (endoplasmic reticulum)"	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.330C>A	9.37:g.102784465G>T			O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Silent	SNP	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold	p.L110	ENST00000262455.6	37	c.330	CCDS35082.1	9																																																																																			0	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold		0.408	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP44	protein_coding	OTTHUMT00000053402.1	51	204	0	0.00	0	0	G	XM_088476	0	0		102784465	-1	no_errors	ENST00000262455	ensembl	human	known	74_37	silent	7	50	84.44	72.53	38	132	SNP	1	T	T	102784465	G	T	102784465	2	4	7	1	0	0	0	0	0	0	0	1	5243	1277	45	5		5	ERP44	9	102784465	Silent	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09	80809688	102784465	38428966	21	87											
FAM69B	138311	genome.wustl.edu	37	chr9	139616628	139616628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaccatcaagtgtggcattGaggagaccctcgactccaag	12	8	10	11	1	1	2	1	1	0	1	3	4	2	2	3	2	1	1	3	2	3	2			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr9:139616628G>C	ENST00000371692.4	+	4	454	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371691.1_Missense_Mutation_p.E33Q|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000416970.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	120						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)		GTGTGGCATTGAGGAGACCCT	0.642																																							0											0													84	83	84					9																	139616628		2203	4300	6503	SO:0001583	missense	0				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.358G>C	9.37:g.139616628G>C	ENSP00000360757:p.Glu120Gln		Q5VUD7|Q8N5N0|Q8WYU5	Missense_Mutation	SNP	pfam_FAM69_kinase_dom	p.E120Q	ENST00000371692.4	37	c.358	CCDS7004.1	9	.	.	.	.	.	.	.	.	.	.	g	7.598	0.672139	0.14776	.	.	ENSG00000165716	ENST00000371692;ENST00000371691	T;T	0.46063	0.88;0.88	4.6	-1.72	0.08107	.	0.365309	0.29853	N	0.011036	T	0.32194	0.0821	M	0.64567	1.98	0.09310	N	1	B	0.18741	0.03	B	0.14023	0.01	T	0.20806	-1.0264	10	0.38643	T	0.18	-16.2139	6.3126	0.21173	0.2564:0.2491:0.4945:0.0	.	120	Q5VUD6	FA69B_HUMAN	Q	120;33	ENSP00000360757:E120Q;ENSP00000360756:E33Q	ENSP00000360756:E33Q	E	+	1	0	FAM69B	138736449	0.972000	0.33761	0.004000	0.12327	0.209000	0.24338	1.652000	0.37313	0.045000	0.15804	0.478000	0.44815	GAG	0	NULL		0.642	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69B	protein_coding	OTTHUMT00000055102.1	70	123	0	0.00	0	0	G	NM_152421	0	0		139616628	1	no_errors	ENST00000371692	ensembl	human	known	74_37	missense	26	49	44.68	36.36	21	28	SNP	0.003	C	C	139616628	G	C	139616628	3	2	7	1	0	0	0	0	1	0	0	0	5603	1291	45	5	372	5	FAM69B	9	139616628	Missense_Mutation	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09	36832163	139616628	1596803	22	88											
C9orf86	55684	genome.wustl.edu	37	chr9	139731851	139731851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatgcgtccccactggcggCcaacgggcagagcccatccc	7	4	11	19	3	0	1	0	0	0	1	2	1	2	1	6	3	3	1	6	3	1	0			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr9:139731851C>T	ENST00000311502.7	+	9	1099	c.863C>T	c.(862-864)gCc>gTc	p.A288V	RABL6_ENST00000432842.2_Missense_Mutation_p.A250V|RABL6_ENST00000371663.4_Missense_Mutation_p.A289V|RABL6_ENST00000357466.2_Missense_Mutation_p.A288V|RABL6_ENST00000371675.3_Missense_Mutation_p.A173V			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	288					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCACTGGCGGCCAACGGGCAG	0.706																																							0											0													8	9	8					9																	139731851		1865	4034	5899	SO:0001583	missense	0			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.863C>T	9.37:g.139731851C>T	ENSP00000311134:p.Ala288Val		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.A289V	ENST00000311502.7	37	c.866	CCDS48058.1	9	.	.	.	.	.	.	.	.	.	.	.	18.46	3.629120	0.67015	.	.	ENSG00000196642	ENST00000371673;ENST00000371663;ENST00000311502;ENST00000357466;ENST00000432842;ENST00000371675;ENST00000435930	T;T;T;T;T;T	0.71341	-0.2;-0.21;1.97;0.8;-0.22;-0.56	4.33	4.33	0.51752	.	0.205916	0.41823	D	0.000802	T	0.76162	0.3949	L	0.53249	1.67	0.48341	D	0.999635	P;D;P;P	0.69078	0.78;0.997;0.705;0.58	B;P;B;B	0.55011	0.265;0.766;0.275;0.142	T	0.78570	-0.2153	10	0.51188	T	0.08	-18.5713	15.8222	0.78662	0.0:1.0:0.0:0.0	.	288;82;289;288	A8QVZ8;B1AMX5;Q3YEC7-2;Q3YEC7	.;.;.;PARF_HUMAN	V	289;289;288;288;250;173;82	ENSP00000360727:A289V;ENSP00000311134:A288V;ENSP00000350056:A288V;ENSP00000414081:A250V;ENSP00000360740:A173V;ENSP00000408442:A82V	ENSP00000311134:A288V	A	+	2	0	C9orf86	138851672	0.941000	0.31946	0.268000	0.24571	0.087000	0.18053	5.132000	0.64758	1.961000	0.56991	0.313000	0.20887	GCC	0	NULL		0.706	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	protein_coding	OTTHUMT00000055141.4	77	13	0	0.00	0	0	C	NM_024718	0	0		139731851	1	no_errors	ENST00000371663	ensembl	human	known	74_37	missense	41	3	8.89	0.00	4	0	SNP	0.98	T	T	139731851	C	T	139731851	3	4	7	1	0	0	0	0	1	0	0	0	2502	739	26	3	1144	3	C9orf86	9	139731851	Missense_Mutation	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09	115223	139731851	1481580	23	89											
ARMC4	55130	genome.wustl.edu	37	chr10	28233763	28233763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttacatttgacttcatcGgtttcaagcaaatttatcag	12	15	5	9	1	3	1	3	1	0	0	4	1	3	1	1	1	2	2	1	1	4	6	rs369884669		TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr10:28233763G>A	ENST00000305242.5	-	11	1607	c.1515C>T	c.(1513-1515)acC>acT	p.T505T	ARMC4_ENST00000537576.1_Silent_p.T197T|ARMC4_ENST00000545014.1_Silent_p.T30T|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	505					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						TGACTTCATCGGTTTCAAGCA	0.488																																							0											0								G		0,4406		0,0,2203	125	116	119		1515	-11.6	0	10		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARMC4	NM_018076.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		505/1045	28233763	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1515C>T	10.37:g.28233763G>A			A8K906|B7Z7I1|Q9H0C0	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.T505	ENST00000305242.5	37	c.1515	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	G	0.085	-1.176623	0.01646	0.0	1.16E-4	ENSG00000169126	ENST00000537573	.	.	.	5.78	-11.6	0.00059	.	.	.	.	.	T	0.48295	0.1492	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68131	-0.5490	5	0.87932	D	0	-31.5252	2.4674	0.04556	0.4516:0.2291:0.192:0.1273	.	.	.	.	L	197	.	ENSP00000438427:P197L	P	-	2	0	ARMC4	28273769	0.000000	0.05858	0.016000	0.15963	0.203000	0.24098	-3.710000	0.00387	-4.330000	0.00056	-3.444000	0.00036	CCG	0	superfamily_ARM-type_fold,smart_Armadillo		0.488	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	protein_coding	OTTHUMT00000047339.1	52	249	0	0.00	0	0	G	NM_018076	rs369884669	G->A		28233763	-1	no_errors	ENST00000305242	ensembl	human	known	74_37	silent	52	200	28.77	27.54	21	76	SNP	0.001	A	A	28233763	G	A	28233763	2	1	7	1	0	0	0	0	0	0	0	1	953	1103	39	2		2	ARMC4	10	28233763	Silent	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09		28233763	107300984	24	90											
KIF18A	81930	genome.wustl.edu	37	chr11	28106202	28106202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatttaatgtcctttgcccGgttagcatacttaagagtgt	10	15	9	7	1	0	2	0	0	0	2	1	2	1	2	2	1	3	2	2	1	4	6	rs151125849	byFrequency	TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr11:28106202G>A	ENST00000263181.6	-	7	1341	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	351	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 metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TCCTTTGCCCGGTTAGCATAC	0.348													G|||	2	0.000399361	0	0	5008	,	,		16305	0		0.002	False		,,,				2504	0						0.9996,0.0003994											0													114	115	115					11																	28106202		2202	4299	6501	SO:0001583	missense	0			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1051C>T	11.37:g.28106202G>A	ENSP00000263181:p.Arg351Trp		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R351W	ENST00000263181.6	37	c.1051	CCDS7867.1	11	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	23.1	4.373244	0.82573	.	.	ENSG00000121621	ENST00000263181	T	0.79033	-1.23	5.11	5.11	0.69529	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.93729	0.7996	H	0.99600	4.65	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.96721	0.9532	10	0.87932	D	0	.	18.6085	0.91275	0.0:0.0:1.0:0.0	.	351	Q8NI77	KI18A_HUMAN	W	351	ENSP00000263181:R351W	ENSP00000263181:R351W	R	-	1	2	KIF18A	28062778	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.532000	0.53553	2.411000	0.81874	0.650000	0.86243	CGG	0	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom		0.348	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	protein_coding	OTTHUMT00000388328.3	41	194	0	0.00	0	0	G	NM_031217	rs151125849	G->A		28106202	-1	no_errors	ENST00000263181	ensembl	human	known	74_37	missense	25	190	41.86	25.68	18	66	SNP	1	A	A	28106202	G	A	28106202	3	1	7	1	0	0	0	0	1	0	0	0	8280	1115	39	2	1689	2	KIF18A	11	28106202	Missense_Mutation	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09		28106202	106900314	25	91											
NTF3	4908	genome.wustl.edu	37	chr12	5603798	5603798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacggcggaaacggtacGcggagcataagagtcaccga	13	4	13	11	6	2	1	2	0	0	1	2	4	2	3	1	4	3	2	1	4	3	2			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr12:5603798G>A	ENST00000331010.6	+	1	501	c.418G>A	c.(418-420)Gcg>Acg	p.A140T	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.A153T	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	140					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GAAACGGTACGCGGAGCATAA	0.602																																					GBM(194;1104 2182 8339 9578 18493)		0											0													89	83	85					12																	5603798		2203	4300	6503	SO:0001583	missense	0				CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.418G>A	12.37:g.5603798G>A	ENSP00000328738:p.Ala140Thr		B7Z1T5|Q6FH50	Missense_Mutation	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3	p.A153T	ENST00000331010.6	37	c.457	CCDS8538.1	12	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874751	0.72180	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.69306	-0.39;-0.39	5.52	3.64	0.41730	.	0.184965	0.47093	D	0.000259	T	0.58935	0.2157	M	0.63428	1.95	0.50467	D	0.99987	B;B	0.32731	0.382;0.382	B;B	0.23018	0.027;0.043	T	0.56426	-0.7981	10	0.41790	T	0.15	-11.2617	11.6622	0.51354	0.0:0.1345:0.7255:0.14	.	140;153	P20783;B7Z1T5	NTF3_HUMAN;.	T	153;140	ENSP00000397297:A153T;ENSP00000328738:A140T	ENSP00000328738:A140T	A	+	1	0	NTF3	5474059	0.999000	0.42202	0.996000	0.52242	0.962000	0.63368	4.787000	0.62432	0.659000	0.30945	0.591000	0.81541	GCG	0	pirsf_Nerve_growth_factor-like		0.602	NTF3-002	KNOWN	basic|CCDS	protein_coding	NTF3	protein_coding	OTTHUMT00000400486.1	50	124	0	0.00	0	0	G		0	0		5603798	1	no_errors	ENST00000423158	ensembl	human	known	74_37	missense	43	183	26.67	15.21	16	33	SNP	0.993	A	A	5603798	G	A	5603798	3	1	7	1	0	0	0	0	1	0	0	0	10696	1087	38	1	463	1	NTF3	12	5603798	Missense_Mutation	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09		5603798	128248097	26	92											
TPCN1	53373	genome.wustl.edu	37	chr12	113733834	113733835	+	Missense_Mutation	DNP	GC	GC	AT																															gcagcagtgcagcccccgccGcccagcagcccccaggcagc																								rs144203904	byFrequency	TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G|C	G|C	G|C	A|T	G|C	G|C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr12:113733834_113733835GC>AT	ENST00000335509.6	+	28	2718_2719	c.2404_2405GC>AT	c.(2404-2406)GCc>ATc	p.A802I	TPCN1_ENST00000550785.1_Missense_Mutation_p.A874I|TPCN1_ENST00000541517.1_Missense_Mutation_p.A874I|TPCN1_ENST00000392569.4_Missense_Mutation_p.A734I	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	802					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|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)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AGCCCCCGCCGCCCAGCAGCCC	0.609																																							0											0																																										SO:0001583	missense	0			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	Exception_encountered	12.37:g.113733834_113733835delinsAT	ENSP00000335300:p.Ala802Ile		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.A874T|p.A874V	ENST00000335509.6	37	c.2620|c.2621	CCDS31908.1	12																																																																																			0	NULL		0.609	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	protein_coding	OTTHUMT00000405156.3	39	47	0	0.00	0	0	G|C	NM_017901	0	0		113733834|113733835	1	no_errors	ENST00000541517	ensembl	human	known	74_37	missense	43|45	61|60	34.85|34.78	32.97|33.33	23|24	30	SNP	0|0.792	A|T	AT	113733835	GC	AT	113733834	3	1	7	1	0	0	0	0	1	0	0	0	16392	1087	38	1	2730	1	TPCN1	12	113733834	Missense_Mutation	DNP	GC	TCGA-3S-A8YW-01A-11D-A423-09	108130036	113733834	20118061	27	93											
DNAH10	196385	genome.wustl.edu	37	chr12	124408355	124408355	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcttttaatatgaccaTcaagatagaacaagcagaag	16	12	6	7	0	2	4	1	1	1	3	2	4	2	4	1	0	2	1	1	0	7	6			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr12:124408355T>A	ENST00000409039.3	+	65	11223	c.11198T>A	c.(11197-11199)aTc>aAc	p.I3733N	RP11-380L11.4_ENST00000602952.1_RNA|CCDC92_ENST00000544798.1_5'Flank	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3733					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)		AATATGACCATCAAGATAGAA	0.368																																							0											0													63	60	61					12																	124408355		1829	4085	5914	SO:0001583	missense	0			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.11198T>A	12.37:g.124408355T>A	ENSP00000386770:p.Ile3733Asn		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.I3733N	ENST00000409039.3	37	c.11198	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607270	0.87157	.	.	ENSG00000197653	ENST00000409039	T	0.59906	0.23	5.49	5.49	0.81192	.	0.206180	0.41605	D	0.000845	T	0.63757	0.2538	M	0.78223	2.4	0.80722	D	1	P	0.43973	0.823	B	0.43867	0.434	T	0.66662	-0.5867	10	0.39692	T	0.17	.	15.5926	0.76550	0.0:0.0:0.0:1.0	.	3733	Q8IVF4	DYH10_HUMAN	N	3733	ENSP00000386770:I3733N	ENSP00000386770:I3733N	I	+	2	0	DNAH10	122974308	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.033000	0.88852	2.068000	0.61886	0.482000	0.46254	ATC	0	NULL		0.368	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	protein_coding	OTTHUMT00000335420.3	63	229	0	0.00	0	0	T		0	0		124408355	1	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	118	314	9.92	16.49	13	62	SNP	1	A	A	124408355	T	A	124408355	3	1	7	1	0	0	0	0	1	0	0	0	4598	1435	50	5	11456	5	DNAH10	12	124408355	Missense_Mutation	SNP	T	TCGA-3S-A8YW-01A-11D-A423-09	10674521	124408355	9443540	28	94											
FAM179B	23116	genome.wustl.edu	37	chr14	45433576	45433576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacccgaagggtattaaGtgcaggaaaaggaaaaaata	18	7	11	5	1	0	0	0	0	0	0	0	3	0	2	1	3	2	3	1	3	10	4			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr14:45433576G>T	ENST00000361577.3	+	1	2166	c.1952G>T	c.(1951-1953)aGt>aTt	p.S651I	FAM179B_ENST00000382233.2_Missense_Mutation_p.S651I|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.S651I|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	651										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGGGTATTAAGTGCAGGAAAA	0.448																																							0											0													60	59	59					14																	45433576		2203	4300	6503	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1952G>T	14.37:g.45433576G>T	ENSP00000355045:p.Ser651Ile		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S651I	ENST00000361577.3	37	c.1952	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020907	0.75275	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04234	3.67;3.67;3.67	5.01	5.01	0.66863	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	L	0.27053	0.805	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.999	T	0.03875	-1.0996	10	0.87932	D	0	-11.8558	18.1161	0.89555	0.0:0.0:1.0:0.0	.	651;651;651;651	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	I	651	ENSP00000355045:S651I;ENSP00000354917:S651I;ENSP00000371668:S651I	ENSP00000354917:S651I	S	+	2	0	FAM179B	44503326	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.810000	0.91950	2.611000	0.88343	0.462000	0.41574	AGT	0	superfamily_ARM-type_fold		0.448	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	protein_coding	OTTHUMT00000276791.1	31	215	0	0.00	0	0	G	XM_113781	0	0		45433576	1	no_errors	ENST00000361577	ensembl	human	known	74_37	missense	39	189	22	28.03	11	74	SNP	1	T	T	45433576	G	T	45433576	3	4	7	1	0	0	0	0	1	0	0	0	5506	1029	36	5	1954	5	FAM179B	14	45433576	Missense_Mutation	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09		45433576	61915964	29	95											
ATP10A	57194	genome.wustl.edu	37	chr15	25924583	25924583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggacaggaagtccacGtcccgcttgtccatctgcaa	8	8	12	13	2	1	0	0	0	1	0	4	2	4	2	3	3	1	3	3	3	2	1	rs147041252		TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr15:25924583G>A	ENST00000356865.6	-	21	4516	c.4405C>T	c.(4405-4407)Cgt>Tgt	p.R1469C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1469					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)		GGAAGTCCACGTCCCGCTTGT	0.567													G|||	1	0.000199681	0	0	5008	,	,		11688	0		0.001	False		,,,				2504	0						0.9998,0.0001997											0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	56	57	57		4405	-3.2	0	15	dbSNP_134	57	0,8600		0,0,4300	no	missense	ATP10A	NM_024490.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1469/1500	25924583	1,13005	2203	4300	6503	SO:0001583	missense	0			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.4405C>T	15.37:g.25924583G>A	ENSP00000349325:p.Arg1469Cys		Q4G0S9|Q969I4	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.R1469C	ENST00000356865.6	37	c.4405	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126091	0.37533	2.27E-4	0.0	ENSG00000206190	ENST00000356865	T	0.10860	2.83	5.26	-3.22	0.05125	.	12.486400	0.00166	N	0.000000	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38415	-0.9662	10	0.49607	T	0.09	0.0195	7.902	0.29740	0.5112:0.1081:0.3807:0.0	.	1469	O60312	AT10A_HUMAN	C	1469	ENSP00000349325:R1469C	ENSP00000349325:R1469C	R	-	1	0	ATP10A	23475676	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.010000	0.12743	-0.879000	0.04002	-0.126000	0.14955	CGT	0	NULL		0.567	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	protein_coding	OTTHUMT00000414830.1	64	85	0	0.00	0	0	G	NM_024490	rs147041252	G->A		25924583	-1	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	43	88	23.21	23.48	13	27	SNP	0.001	A	A	25924583	G	A	25924583	3	1	7	1	0	0	0	0	1	0	0	0	1116	1145	40	1	98	1	ATP10A	15	25924583	Missense_Mutation	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09		25924583	76606809	30	96											
OCA2	4948	genome.wustl.edu	37	chr15	28263684	28263684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagcgtggagtccacGtggctgctaaggttcacggc	7	8	15	11	3	1	0	1	0	0	0	2	1	2	1	1	4	4	5	1	4	1	2			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr15:28263684G>A	ENST00000354638.3	-	7	821	c.666C>T	c.(664-666)caC>caT	p.H222H	OCA2_ENST00000353809.5_Silent_p.H222H|OCA2_ENST00000382996.2_Silent_p.H222H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	222					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGGAGTCCACGTGGCTGCTAA	0.657									Oculocutaneous Albinism																														0											0													28	23	25					15																	28263684		2203	4299	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.666C>T	15.37:g.28263684G>A			Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.H222	ENST00000354638.3	37	c.666	CCDS10020.1	15																																																																																			0	NULL		0.657	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	protein_coding	OTTHUMT00000250823.1	71	58	0	0.00	0	0	G	NM_000275	0	0		28263684	-1	no_errors	ENST00000354638	ensembl	human	known	74_37	silent	70	43	15.66	15.69	13	8	SNP	0	A	A	28263684	G	A	28263684	2	1	7	1	0	0	0	0	0	0	0	1	10815	1136	40	1		1	OCA2	15	28263684	Silent	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09	2339101	28263684	74267708	31	97											
TP53	7157	genome.wustl.edu	37	chr17	7577096	7577096	+	Frame_Shift_Del	DEL	T	T	-																															tctcttcctctgtgcgccggTctctcccaggacaggcacaa																								rs587781525		TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr17:7577096delT	ENST00000269305.4	-	8	1031	c.842delA	c.(841-843)gacfs	p.D281fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.D281fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D281fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D281fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.D281fs|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	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.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(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)	TGTGCGCCGGTCTCTCCCAGG	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)		0	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	44	Substitution - Missense(18)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)	haematopoietic_and_lymphoid_tissue(8)|upper_aerodigestive_tract(7)|breast(5)|lung(5)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|stomach(2)|urinary_tract(2)|oesophagus(1)	GRCh37	CM004343|CM056068	TP53	M							82	70	74					17																	7577096		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.842delA	17.37:g.7577096delT	ENSP00000269305:p.Asp281fs		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.D281fs	ENST00000269305.4	37	c.842	CCDS11118.1	17																																																																																			0	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	41	222	0	0.00	0	0	T	NM_000546	0	0		7577096	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	8	37	81.82	72.99	36	100	DEL	1	0	-	7577096	T	-	7577096	7	5	7	1	0	1	0	1	0	0	0	0	16378	1667	58	0	444	0	TP53	17	7577096	Frame_Shift_Del	DEL	T	TCGA-3S-A8YW-01A-11D-A423-09		7577096	73618114	32	98											
TEX14	56155	genome.wustl.edu	37	chr17	56663351	56663351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcgtcgggctcattttcagCctcgctctctaaagtcagac	7	11	10	13	3	4	1	3	0	1	1	7	1	4	1	1	2	1	2	1	2	2	3			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr17:56663351C>T	ENST00000240361.8	-	18	2984	c.2899G>A	c.(2899-2901)Gct>Act	p.A967T	TEX14_ENST00000349033.5_Missense_Mutation_p.A961T|TEX14_ENST00000389934.3_Missense_Mutation_p.A961T			Q8IWB6	TEX14_HUMAN	testis expressed 14	967					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)					TCATTTTCAGCCTCGCTCTCT	0.512																																							0											0													151	151	151					17																	56663351		2203	4300	6503	SO:0001583	missense	0			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.2899G>A	17.37:g.56663351C>T	ENSP00000240361:p.Ala967Thr		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.A967T	ENST00000240361.8	37	c.2899	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332485	0.41297	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.79141	-1.24;-1.24;-1.21	5.38	1.54	0.23209	.	0.796443	0.11641	N	0.543808	T	0.65575	0.2704	L	0.41236	1.265	0.09310	N	1	B;B;B	0.21147	0.031;0.052;0.052	B;B;B	0.19946	0.012;0.027;0.027	T	0.52902	-0.8513	10	0.35671	T	0.21	-0.0537	5.409	0.16339	0.0:0.4961:0.0:0.5039	.	967;961;961	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	T	967;961;961	ENSP00000240361:A967T;ENSP00000374584:A961T;ENSP00000268910:A961T	ENSP00000240361:A967T	A	-	1	0	TEX14	54018350	0.083000	0.21467	0.086000	0.20670	0.484000	0.33280	-0.031000	0.12287	0.476000	0.27440	0.561000	0.74099	GCT	0	NULL		0.512	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	protein_coding	OTTHUMT00000445446.1	67	133	0	0.00	0	0	C		0	0		56663351	-1	no_errors	ENST00000240361	ensembl	human	known	74_37	missense	42	70	55.79	61.11	53	110	SNP	0.144	T	T	56663351	C	T	56663351	3	4	7	1	0	0	0	0	1	0	0	0	15775	739	26	3	1658	3	TEX14	17	56663351	Missense_Mutation	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09	49086255	56663351	24531859	33	99											
DSG3	1830	genome.wustl.edu	37	chr18	29045307	29045307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catgggacgtaacgatggtgGatacctaatgattgattcaa	13	11	11	6	2	1	2	1	2	0	0	1	5	1	4	1	3	2	1	1	3	4	5			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr18:29045307G>C	ENST00000257189.4	+	10	1381	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	433	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			AACGATGGTGGATACCTAATG	0.294																																							0											0													78	84	82					18																	29045307		2203	4300	6503	SO:0001583	missense	0			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.1298G>C	18.37:g.29045307G>C	ENSP00000257189:p.Gly433Ala		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.G433A	ENST00000257189.4	37	c.1298	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202002	0.22121	.	.	ENSG00000134757	ENST00000257189	T	0.62941	-0.01	5.82	5.82	0.92795	Cadherin (3);Cadherin-like (1);	0.000000	0.49916	D	0.000123	T	0.55593	0.1930	L	0.60957	1.885	0.32493	N	0.539934	B	0.20887	0.049	B	0.22601	0.04	T	0.62863	-0.6764	10	0.59425	D	0.04	.	6.5957	0.22672	0.1473:0.1551:0.6975:0.0	.	433	P32926	DSG3_HUMAN	A	433	ENSP00000257189:G433A	ENSP00000257189:G433A	G	+	2	0	DSG3	27299305	0.935000	0.31712	0.998000	0.56505	0.207000	0.24258	1.861000	0.39438	2.753000	0.94483	0.467000	0.42956	GGA	0	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.294	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	protein_coding	OTTHUMT00000254949.1	110	285	0	0.00	0	0	G	NM_001944	0	0		29045307	1	no_errors	ENST00000257189	ensembl	human	known	74_37	missense	140	365	8.5	10.51	13	43	SNP	0.998	C	C	29045307	G	C	29045307	3	2	7	1	0	0	0	0	1	0	0	0	4778	1174	41	5	1336	5	DSG3	18	29045307	Missense_Mutation	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09		29045307	49031941	34	100											
RNF138	51444	genome.wustl.edu	37	chr18	29706742	29706742	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctaaatcagagacatcaAtttgattatggagaatttgt	15	14	7	5	0	3	3	2	1	1	2	3	5	3	3	0	1	0	0	0	1	5	4			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr18:29706742A>G	ENST00000261593.3	+	7	1106	c.648A>G	c.(646-648)caA>caG	p.Q216Q	RNF138_ENST00000257190.5_Silent_p.Q122Q|RP11-53I6.4_ENST00000583138.1_RNA	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	216					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AGAGACATCAATTTGATTATG	0.303																																							0											0													68	68	68					18																	29706742		2203	4298	6501	SO:0001819	synonymous_variant	0			AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"RING-type (C3HC4) zinc fingers"	17765	protein-coding gene	gene with protein product	"nemo-like kinase associated ring finger protein"		"ring finger protein 138"			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.648A>G	18.37:g.29706742A>G			B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Silent	SNP	pfam_Znf_MIZ,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q216	ENST00000261593.3	37	c.648	CCDS11903.1	18																																																																																			0	NULL		0.303	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF138	protein_coding	OTTHUMT00000255352.2	120	190	0	0.00	0	0	A	NM_016271	0	0		29706742	1	no_errors	ENST00000261593	ensembl	human	known	74_37	silent	151	261	20.11	23.24	38	79	SNP	1	G	G	29706742	A	G	29706742	2	3	7	1	0	0	0	0	0	0	0	1	13441	98	4	3		3	RNF138	18	29706742	Silent	SNP	A	TCGA-3S-A8YW-01A-11D-A423-09	661435	29706742	48370506	35	101											
FFAR3	2865	genome.wustl.edu	37	chr19	35849879	35849879	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcactttcctggtggggctCcccctcaacctgctggccct	3	11	9	18	0	2	0	2	0	0	0	4	0	4	0	5	4	2	2	5	4	1	1			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr19:35849879C>T	ENST00000327809.4	+	2	288	c.87C>T	c.(85-87)ctC>ctT	p.L29L	FFAR3_ENST00000594310.1_Silent_p.L29L	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	29					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)	p.L29L(2)		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)			TGGTGGGGCTCCCCCTCAACC	0.647																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)		0											2	Substitution - coding silent(2)	lung(2)											88	82	84					19																	35849879		2199	4292	6491	SO:0001819	synonymous_variant	0			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.87C>T	19.37:g.35849879C>T			B2RWM8|Q14CM7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	p.L29	ENST00000327809.4	37	c.87	CCDS12459.1	19																																																																																			0	prints_GPCR_Rhodpsn		0.647	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	protein_coding	OTTHUMT00000418873.2	85	126	0	0.00	0	0	C	NM_005304	0	0		35849879	1	no_errors	ENST00000327809	ensembl	human	known	74_37	silent	61	93	15.28	13.89	11	15	SNP	0.89	T	T	35849879	C	T	35849879	2	4	7	1	0	0	0	0	0	0	0	1	5829	842	30	3		3	FFAR3	19	35849879	Silent	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09		35849879	23279104	36	102											
RYR1	6261	genome.wustl.edu	37	chr19	39075660	39075660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggaccccgcgggtgaCgaatacgagctctacagggt	10	6	14	11	5	1	1	0	1	1	0	2	5	1	2	2	3	3	1	2	3	3	2			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr19:39075660C>T	ENST00000359596.3	+	102	14724	c.14724C>T	c.(14722-14724)gaC>gaT	p.D4908D	RYR1_ENST00000360985.3_Silent_p.D4903D|RYR1_ENST00000355481.4_Silent_p.D4903D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4908					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)	CCGCGGGTGACGAATACGAGC	0.592																																							0											0													262	198	219					19																	39075660		2203	4300	6503	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14724C>T	19.37:g.39075660C>T			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.D4908	ENST00000359596.3	37	c.14724	CCDS33011.1	19																																																																																			0	pfam_Ion_trans_dom		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	79	220	0	0.00	0	0	C		0	0		39075660	1	no_errors	ENST00000359596	ensembl	human	known	74_37	silent	39	136	36.07	22.29	22	39	SNP	0.992	T	T	39075660	C	T	39075660	2	4	7	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	39075660	Silent	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09	3225781	39075660	20053323	37	103											
ESF1	51575	genome.wustl.edu	37	chr20	13753210	13753210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaatagctctactggtcCttgaacttgctcttccttca	8	16	5	12	0	3	1	1	1	2	0	5	1	5	1	2	1	4	2	2	1	4	7			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr20:13753210C>T	ENST00000202816.1	-	5	1308	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	401					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						TCTACTGGTCCTTGAACTTGC	0.328																																							0											0													186	177	180					20																	13753210		2203	4300	6503	SO:0001583	missense	0				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.1201G>A	20.37:g.13753210C>T	ENSP00000202816:p.Gly401Arg		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	pfam_NUC153	p.G401R	ENST00000202816.1	37	c.1201	CCDS13117.1	20	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969487	0.92855	.	.	ENSG00000089048	ENST00000202816	T	0.77358	-1.09	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.90484	0.7019	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91462	0.5190	10	0.72032	D	0.01	22.4905	19.8105	0.96544	0.0:1.0:0.0:0.0	.	401	Q9H501	ESF1_HUMAN	R	401	ENSP00000202816:G401R	ENSP00000202816:G401R	G	-	1	0	ESF1	13701210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.096000	0.76960	2.755000	0.94549	0.650000	0.86243	GGA	0	NULL		0.328	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESF1	protein_coding	OTTHUMT00000078049.1	35	210	0	0.00	0	0	C	NM_016649	0	0		13753210	-1	no_errors	ENST00000202816	ensembl	human	known	74_37	missense	32	192	27.27	33.33	12	96	SNP	1	T	T	13753210	C	T	13753210	3	4	7	1	0	0	0	0	1	0	0	0	5251	690	24	3	1394	3	ESF1	20	13753210	Missense_Mutation	SNP	C	TCGA-3S-A8YW-01A-11D-A423-09		13753210	49272310	38	104											
LAMA5	3911	genome.wustl.edu	37	chr20	60895897	60895897	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatggcggggaggagggcGccggcccgttccaggtcatc	6	6	18	11	4	1	1	1	1	0	0	3	3	2	3	3	7	0	1	3	7	1	1			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chr20:60895897G>A	ENST00000252999.3	-	49	6612	c.6546C>T	c.(6544-6546)ggC>ggT	p.G2182G		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2182	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)			GGAGGAGGGCGCCGGCCCGTT	0.647																																							0											0													42	39	40					20																	60895897		2183	4280	6463	SO:0001819	synonymous_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6546C>T	20.37:g.60895897G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	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.G2182	ENST00000252999.3	37	c.6546	CCDS33502.1	20																																																																																			0	NULL		0.647	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	protein_coding	OTTHUMT00000080014.2	67	60	0	0.00	0	0	G	NM_005560	0	0		60895897	-1	no_errors	ENST00000252999	ensembl	human	known	74_37	silent	25	20	46.94	60.00	23	30	SNP	0	A	A	60895897	G	A	60895897	2	1	7	1	0	0	0	0	0	0	0	1	8609	1074	38	1		1	LAMA5	20	60895897	Silent	SNP	G	TCGA-3S-A8YW-01A-11D-A423-09	47142687	60895897	2129623	39	105											
DMD	1756	genome.wustl.edu	37	chrX	31986629	31986629	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccaatgccatcctggagTtcctgtaagataccaaaaag	13	9	8	11	0	0	1	0	0	0	1	2	2	2	2	5	1	3	2	5	1	5	3			TCGA-3S-A8YW-01A-11D-A423-09	TCGA-3S-A8YW-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	67b5676a-84a1-44fb-9301-b962911b7f93	b9e36959-d9a1-43d8-a24f-c35495eb6d7a	g.chrX:31986629T>G	ENST00000357033.4	-	45	6647	c.6441A>C	c.(6439-6441)gaA>gaC	p.E2147D	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2143D|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2147					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)				CATCCTGGAGTTCCTGTAAGA	0.408																																							0											0													54	47	50					X																	31986629		2202	4298	6500	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6441A>C	X.37:g.31986629T>G	ENSP00000354923:p.Glu2147Asp		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.E2147D	ENST00000357033.4	37	c.6441	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	10.31	1.314316	0.23908	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033	T;T	0.49720	0.77;0.77	5.22	0.0161	0.14106	.	0.000000	0.35207	U	0.003369	T	0.34745	0.0908	L	0.54323	1.7	0.80722	D	1	B;B;B;B;B;B	0.34161	0.439;0.015;0.061;0.018;0.043;0.043	B;B;B;B;B;B	0.35182	0.197;0.011;0.084;0.019;0.04;0.027	T	0.15122	-1.0448	10	0.08599	T	0.76	.	8.2072	0.31463	0.0:0.6465:0.167:0.1866	.	806;2139;2147;2143;806;803	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	D	2139;806;803;2143;2147	ENSP00000367948:E2143D;ENSP00000354923:E2147D	ENSP00000354923:E2147D	E	-	3	2	DMD	31896550	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	0.916000	0.28651	-0.073000	0.12842	0.437000	0.28790	GAA	0	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	37	109	0	0.00	0	0	T	NM_004006	0	0		31986629	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	8	20	55.56	75.00	10	60	SNP	0.999	G	G	31986629	T	G	31986629	3	3	7	1	0	0	0	0	1	0	0	0	4580	1722	60	5	4904	5	DMD	23	31986629	Missense_Mutation	SNP	T	TCGA-3S-A8YW-01A-11D-A423-09		31986629	123283931	40	106											
KIF19	124602	genome.wustl.edu	37	chr17	72350466	72350466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgacgatgcgcggccaccagGcccactggcctgcaagcggc	7	3	14	17	5	0	0	0	0	0	0	0	2	0	0	4	4	3	1	4	4	1	0			TCGA-3S-AAYX-01A-11D-A423-09	TCGA-3S-AAYX-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5e3760f9-8651-4389-a023-691b933bdd58	a34951fb-ca4f-40ce-84bf-cb2eb419bf2e	g.chr17:72350466G>T	ENST00000389916.4	+	18	2612	c.2474G>T	c.(2473-2475)gGc>gTc	p.G825V	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	825					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						CGGCCACCAGGCCCACTGGCC	0.716																																							0											0													9	14	12					17																	72350466		2003	4149	6152	SO:0001583	missense	0			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.2474G>T	17.37:g.72350466G>T	ENSP00000374566:p.Gly825Val		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.G825V	ENST00000389916.4	37	c.2474	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599660	0.28534	.	.	ENSG00000196169	ENST00000389916	T	0.71341	-0.56	4.21	3.21	0.36854	.	.	.	.	.	T	0.63558	0.2521	L	0.55481	1.735	0.33686	D	0.612732	P	0.45986	0.87	B	0.41571	0.36	T	0.72137	-0.4381	9	0.40728	T	0.16	.	8.9094	0.35543	0.1792:0.0:0.8208:0.0	.	825	Q2TAC6	KIF19_HUMAN	V	825	ENSP00000374566:G825V	ENSP00000374566:G825V	G	+	2	0	KIF19	69862061	0.029000	0.19370	0.277000	0.24703	0.329000	0.28539	1.012000	0.29924	2.096000	0.63516	0.556000	0.70494	GGC	0	NULL		0.716	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	protein_coding	OTTHUMT00000319644.2	30	28	0	0.00	0	0	G	NM_153209	0	0		72350466	1	no_errors	ENST00000389916	ensembl	human	known	74_37	missense	9	10	25	0.00	3	0	SNP	0.357	T	T	72350466	G	T	72350466	3	4	8	1	0	0	0	0	1	0	0	0	8282	1203	42	5	2544	5	KIF19	17	72350466	Missense_Mutation	SNP	G	TCGA-3S-AAYX-01A-11D-A423-09		72350466	8844744	1	107											
POTEF	728378	genome.wustl.edu	37	chr2	130832171	130832171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggctggaagagcgcctcGgggcagcggaaccgctcgtt	8	5	16	12	5	0	1	0	0	0	1	2	3	0	3	2	5	3	4	2	5	3	1			TCGA-3T-AA9L-01A-11D-A423-09	TCGA-3T-AA9L-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	879f5cd5-bdc4-4460-91ac-c66e3384c560	06f65dbf-dbaf-4c39-8ce5-7eb9a3c8aac4	g.chr2:130832171G>A	ENST00000409914.2	-	17	3273	c.2874C>T	c.(2872-2874)ccC>ccT	p.P958P	POTEF_ENST00000357462.5_Silent_p.P958P	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	958	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						AGAGCGCCTCGGGGCAGCGGA	0.587																																							0											0													1	2	1					2																	130832171		335	970	1305	SO:0001819	synonymous_variant	0			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.2874C>T	2.37:g.130832171G>A			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.P958	ENST00000409914.2	37	c.2874	CCDS46409.1	2																																																																																			0	pfam_Actin-related,smart_Actin-related		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	protein_coding	OTTHUMT00000331889.2	31	0	3.12	0.00	1	0	G	NM_001099771	0	0		130832171	-1	no_errors	ENST00000357462	ensembl	human	known	74_37	silent	30	0	18.42	0.00	7	0	SNP	1	A	A	130832171	G	A	130832171	2	1	9	1	0	0	0	0	0	0	0	1	12265	1103	39	2		2	POTEF	2	130832171	Silent	SNP	G	TCGA-3T-AA9L-01A-11D-A423-09		130832171	112367202	1	108											
C16orf7	9605	genome.wustl.edu	37	chr16	89777305	89777305	+	Frame_Shift_Del	DEL	G	G	-																															ggcttccggggttgggggtcGgggggcagcagcctggggct																										TCGA-3T-AA9L-01A-11D-A423-09	TCGA-3T-AA9L-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	879f5cd5-bdc4-4460-91ac-c66e3384c560	06f65dbf-dbaf-4c39-8ce5-7eb9a3c8aac4	g.chr16:89777305delG	ENST00000389386.3	-	10	1071	c.947delC	c.(946-948)ccgfs	p.P316fs	VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Frame_Shift_Del_p.P246fs|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	316					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GTTGGGGGTCGGGGGGCAGCA	0.741																																							0											0													1	1	1					16																	89777305		865	2199	3064	SO:0001589	frameshift_variant	0			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.947delC	16.37:g.89777305delG	ENSP00000374037:p.Pro316fs			Frame_Shift_Del	DEL	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.P316fs	ENST00000389386.3	37	c.947	CCDS42220.1	16																																																																																			0	NULL		0.741	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	protein_coding	OTTHUMT00000422508.1	12	1	0	0.00	0	0	G	NM_004913	0	0		89777305	-1	no_errors	ENST00000389386	ensembl	human	known	74_37	frame_shift_del	4	5	33.33	0.00	2	0	DEL	0.668	0	-	89777305	G	-	89777305	7	5	9	1	0	1	0	1	0	0	0	0	1828	1116	39	0	972	0	C16orf7	16	89777305	Frame_Shift_Del	DEL	G	TCGA-3T-AA9L-01A-11D-A423-09		89777305	577448	2	109											
ZNF506	440515	genome.wustl.edu	37	chr19	19905796	19905796	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattatctcatgtttagtAagggttgaggatgaaataaa	15	14	10	2	0	1	3	1	3	1	0	2	4	1	4	0	2	0	3	0	2	7	6			TCGA-3T-AA9L-01A-11D-A423-09	TCGA-3T-AA9L-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	879f5cd5-bdc4-4460-91ac-c66e3384c560	06f65dbf-dbaf-4c39-8ce5-7eb9a3c8aac4	g.chr19:19905796A>G	ENST00000540806.2	-	4	988	c.900T>C	c.(898-900)ctT>ctC	p.L300L	CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Silent_p.L268L|ZNF506_ENST00000443905.2_Silent_p.L300L|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CATGTTTAGTAAGGGTTGAGG	0.373																																							0											0													49	54	52					19																	19905796		2197	4299	6496	SO:0001819	synonymous_variant	0			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"Zinc fingers, C2H2-type", "-"	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.900T>C	19.37:g.19905796A>G			B3KTH6	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.L300	ENST00000540806.2	37	c.900	CCDS42531.1	19																																																																																			0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF506	protein_coding	OTTHUMT00000460794.1	58	2	0	0.00	0	0	A	XM_036218	0	0		19905796	-1	no_errors	ENST00000443905	ensembl	human	known	74_37	silent	53	6	7.02	0.00	4	0	SNP	0.01	G	G	19905796	A	G	19905796	2	3	9	1	0	0	0	0	0	0	0	1	17949	349	13	3		3	ZNF506	19	19905796	Silent	SNP	A	TCGA-3T-AA9L-01A-11D-A423-09		19905796	39223187	3	110											
CHEK2	11200	genome.wustl.edu	37	chr22	29083913	29083913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcacacacagctgggCgctttgtggtctcggcaccc	7	7	12	15	2	1	0	0	0	1	0	2	0	1	0	1	3	3	5	1	3	0	1	rs544216926	byFrequency	TCGA-4V-A9QI-01A-11D-A423-09	TCGA-4V-A9QI-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cf0b83a4-4850-4332-8adc-1974c46ae6d8	88fd09ae-4414-4bbf-b37d-94c9ed74c7b7	g.chr22:29083913C>T	ENST00000405598.1	-	16	1795	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.R506H|CHEK2_ENST00000544772.1_Missense_Mutation_p.R314H|CHEK2_ENST00000382580.2_Missense_Mutation_p.R578H|CHEK2_ENST00000403642.1_Missense_Mutation_p.R444H|CHEK2_ENST00000404276.1_Missense_Mutation_p.R535H|CHEK2_ENST00000328354.6_Missense_Mutation_p.R535H|CHEK2_ENST00000382578.1_Missense_Mutation_p.R444H|CHEK2_ENST00000382565.1_Missense_Mutation_p.R155H|CHEK2_ENST00000402731.1_Missense_Mutation_p.R506H			O96017	CHK2_HUMAN	checkpoint kinase 2	535					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						CACAGCTGGGCGCTTTGTGGT	0.458			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					C|||	2	0.000399361	0	0	5008	,	,		18131	0		0	False		,,,				2504	0.002						0.9996,0.0003994	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0													42	44	44					22																	29083913		1368	2307	3675	SO:0001583	missense	0			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.1604G>A	22.37:g.29083913C>T	ENSP00000386087:p.Arg535His		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.R578H	ENST00000405598.1	37	c.1733	CCDS13843.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.39|19.39	3.819005|3.819005	0.71028|0.71028	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810;ENST00000456369|ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.|T;T;T;T;T;T;T;T;T;T	.|0.68331	.|0.76;-0.26;-0.32;-0.26;-0.27;-0.27;-0.27;-0.23;-0.26;0.76	4.76|4.76	2.63|2.63	0.31362|0.31362	.|.	.|0.439613	.|0.22360	.|N	.|0.061096	T|T	0.64349|0.64349	0.2590|0.2590	N|N	0.24115|0.24115	0.695|0.695	0.20926|0.20926	N|N	0.999824|0.999824	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.958;0.999;0.999;0.99;0.998	.|D;B;P;P;P;P	.|0.63703	.|0.917;0.431;0.826;0.897;0.469;0.78	T|T	0.52646|0.52646	-0.8548|-0.8548	5|10	.|0.48119	.|T	.|0.1	-4.4609|-4.4609	7.9154|7.9154	0.29814|0.29814	0.0:0.798:0.0:0.202|0.0:0.798:0.0:0.202	.|.	.|444;314;535;506;535;578	.|O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.|.;.;.;.;CHK2_HUMAN;.	T|H	268;136|506;444;155;218;314;535;535;535;578;444;506	.|ENSP00000329012:R506H;ENSP00000372021:R444H;ENSP00000372006:R155H;ENSP00000442458:R314H;ENSP00000329178:R535H;ENSP00000385747:R535H;ENSP00000386087:R535H;ENSP00000372023:R578H;ENSP00000384919:R444H;ENSP00000384835:R506H	.|ENSP00000329178:R535H	A|R	-|-	1|2	0|0	CHEK2|CHEK2	27413913|27413913	0.360000|0.360000	0.24964|0.24964	0.833000|0.833000	0.33012|0.33012	0.169000|0.169000	0.22640|0.22640	0.471000|0.471000	0.22100|0.22100	1.136000|1.136000	0.42199|0.42199	0.557000|0.557000	0.71058|0.71058	GCC|CGC	0	NULL		0.458	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	protein_coding	OTTHUMT00000321150.1	77	0	0	0.00	0	0	C	NM_001005735	rs544216926	C->T		29083913	-1	no_errors	ENST00000382580	ensembl	human	known	74_37	missense	51	0	7.27	0.00	4	0	SNP	0.189	T	T	29083913	C	T	29083913	3	4	10	1	0	0	0	0	1	0	0	0	3335	768	27	1	31	1	CHEK2	22	29083913	Missense_Mutation	SNP	C	TCGA-4V-A9QI-01A-11D-A423-09		29083913	22220653	1	111											
ACTRT2	140625	genome.wustl.edu	37	chr1	2939133	2939133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccgacatccagaagatcCtctttggggagattgtgctg	10	11	11	9	1	1	3	0	0	1	3	3	5	3	3	3	2	2	1	3	2	2	3			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr1:2939133C>T	ENST00000378404.2	+	1	1088	c.883C>T	c.(883-885)Ctc>Ttc	p.L295F		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	295						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCAGAAGATCCTCTTTGGGGA	0.622																																							0											0													63	72	69					1																	2939133		2202	4299	6501	SO:0001583	missense	0			AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.883C>T	1.37:g.2939133C>T	ENSP00000367658:p.Leu295Phe		B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.L295F	ENST00000378404.2	37	c.883	CCDS45.1	1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744777	0.49151	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.97731	-4.51	4.86	4.86	0.63082	.	0.000000	0.48286	D	0.000196	D	0.98432	0.9478	M	0.72118	2.19	0.58432	D	0.999995	D	0.89917	1.0	D	0.79784	0.993	D	0.99813	1.1042	10	0.87932	D	0	.	16.5657	0.84588	0.0:1.0:0.0:0.0	.	295	Q8TDY3	ACTT2_HUMAN	F	295	ENSP00000367658:L295F	ENSP00000367658:L295F	L	+	1	0	ACTRT2	2928993	1.000000	0.71417	0.164000	0.22755	0.337000	0.28794	4.812000	0.62613	2.248000	0.74166	0.561000	0.74099	CTC	0	pfam_Actin-related,smart_Actin-related		0.622	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT2	protein_coding	OTTHUMT00000001331.1	84	107	1.16	0.00	1	0	C	NM_080431	0	0		2939133	1	no_errors	ENST00000378404	ensembl	human	known	74_37	missense	65	127	7.14	5.22	5	7	SNP	0.999	T	T	2939133	C	T	2939133	3	4	11	1	0	0	0	0	1	0	0	0	219	681	24	3	885	3	ACTRT2	1	2939133	Missense_Mutation	SNP	C	TCGA-4V-A9QJ-01A-11D-A423-09		2939133	246311488	1	112											
KCNQ4	9132	genome.wustl.edu	37	chr1	41283912	41283912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgctgctgccgctaccGaggatggcagggtcgcttcc	5	8	15	13	4	0	0	0	0	0	0	2	3	1	2	3	4	4	5	3	4	1	2			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr1:41283912G>T	ENST00000347132.5	+	3	564	c.482G>T	c.(481-483)cGa>cTa	p.R161L	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R161L	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	161					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TGCCGCTACCGAGGATGGCAG	0.637																																							0											0													105	97	100					1																	41283912		2203	4300	6503	SO:0001583	missense	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.482G>T	1.37:g.41283912G>T	ENSP00000262916:p.Arg161Leu		O96025	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.R161L	ENST00000347132.5	37	c.482	CCDS456.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.566923	0.96540	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.98876	-5.2;-5.03	4.87	4.87	0.63330	Ion transport (1);	0.072980	0.52532	D	0.000078	D	0.98466	0.9489	L	0.39514	1.22	0.80722	D	1	P;D	0.89917	0.949;1.0	P;D	0.91635	0.743;0.999	D	0.99667	1.0995	10	0.87932	D	0	-5.8624	15.5754	0.76373	0.0:0.0:1.0:0.0	.	161;161	P56696-2;P56696	.;KCNQ4_HUMAN	L	161	ENSP00000262916:R161L;ENSP00000423756:R161L	ENSP00000262916:R161L	R	+	2	0	KCNQ4	41056499	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.600000	0.98282	2.532000	0.85374	0.650000	0.86243	CGA	0	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ		0.637	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	protein_coding	OTTHUMT00000020812.1	51	43	0	0.00	0	0	G	NM_004700	0	0		41283912	1	no_errors	ENST00000347132	ensembl	human	known	74_37	missense	61	83	7.58	11.70	5	11	SNP	1	T	T	41283912	G	T	41283912	3	4	11	1	0	0	0	0	1	0	0	0	8085	1058	37	5	492	5	KCNQ4	1	41283912	Missense_Mutation	SNP	G	TCGA-4V-A9QJ-01A-11D-A423-09	38344779	41283912	207966709	2	113											
CTBS	1486	genome.wustl.edu	37	chr1	85040024	85040024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcagcgccagcagcgcCagcagcgctagacccgggac	9	1	14	17	4	0	1	0	0	0	1	0	2	0	2	4	1	6	4	4	1	1	1			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr1:85040024C>T	ENST00000370630.5	-	1	123	c.75G>A	c.(73-75)ctG>ctA	p.L25L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	25					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ccagcagcgccagcagcgcTA	0.726																																							0											0													3	4	4					1																	85040024		1689	3502	5191	SO:0001819	synonymous_variant	0			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.75G>A	1.37:g.85040024C>T			Q5VX50	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L25	ENST00000370630.5	37	c.75	CCDS698.1	1																																																																																			0	NULL		0.726	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBS	protein_coding	OTTHUMT00000027457.2	10	0	9.09	0.00	1	0	C	NM_004388	0	0		85040024	-1	no_errors	ENST00000370630	ensembl	human	known	74_37	silent	12	1	20	0.00	3	0	SNP	0.006	T	T	85040024	C	T	85040024	2	4	11	1	0	0	0	0	0	0	0	1	3999	581	21	3		3	CTBS	1	85040024	Silent	SNP	C	TCGA-4V-A9QJ-01A-11D-A423-09	43756112	85040024	164210597	3	114											
INTS3	65123	genome.wustl.edu	37	chr1	153737191	153737191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggaggagtctgtaggaaagCctctgtacctaatatttagg	11	12	12	6	0	2	0	0	0	2	0	2	3	2	3	2	4	2	2	2	4	6	6			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr1:153737191C>T	ENST00000318967.2	+	19	2519	c.1951C>T	c.(1951-1953)Cct>Tct	p.P651S	INTS3_ENST00000456435.1_Missense_Mutation_p.P445S|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.P651S|INTS3_ENST00000512605.1_Missense_Mutation_p.P445S	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	652					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)			TGTAGGAAAGCCTCTGTACCT	0.517																																							0											0													138	136	137					1																	153737191		2203	4300	6503	SO:0001583	missense	0			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.1951C>T	1.37:g.153737191C>T	ENSP00000318641:p.Pro651Ser		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.P651S	ENST00000318967.2	37	c.1951	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179219	0.78564	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.69358	2.11	0.58432	D	0.999997	D;D;D	0.67145	0.996;0.98;0.988	D;D;D	0.75484	0.986;0.968;0.986	T	0.74659	-0.3591	9	0.87932	D	0	.	12.9969	0.58652	0.0:1.0:0.0:0.0	.	445;652;651	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	S	651;445;651;445	.	ENSP00000318641:P651S	P	+	1	0	INTS3	152003815	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.138000	0.71717	2.418000	0.82041	0.462000	0.41574	CCT	0	NULL		0.517	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	protein_coding	OTTHUMT00000090045.2	52	185	0	1.07	0	2	C	NM_023015	0	0		153737191	1	no_errors	ENST00000318967	ensembl	human	known	74_37	missense	54	204	10	10.53	6	24	SNP	1	T	T	153737191	C	T	153737191	3	4	11	1	0	0	0	0	1	0	0	0	7779	739	26	3	2025	3	INTS3	1	153737191	Missense_Mutation	SNP	C	TCGA-4V-A9QJ-01A-11D-A423-09	68697167	153737191	95513430	4	115											
FAM177B	400823	genome.wustl.edu	37	chr1	222919977	222919977	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattatccattttgttgaCggagacatcatggaagaata	14	12	10	5	1	1	3	1	1	0	2	2	6	2	5	1	3	0	1	1	3	4	5			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr1:222919977C>T	ENST00000445590.2	+	3	356	c.90C>T	c.(88-90)gaC>gaT	p.D30D	FAM177B_ENST00000360827.2_Silent_p.D30D	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	30										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						ATTTTGTTGACGGAGACATCA	0.413																																							0											0													75	69	71					1																	222919977		2203	4300	6503	SO:0001819	synonymous_variant	0			AK125494	CCDS1535.2	1q41	2008-08-08			ENSG00000197520	ENSG00000197520			34395	protein-coding gene	gene with protein product							Standard	NM_207468		Approved	RP11-452F19.2, FLJ43505	uc001hnt.3	A6PVY3	OTTHUMG00000037766	ENST00000445590.2:c.90C>T	1.37:g.222919977C>T			Q6ZUN8	Silent	SNP	NULL	p.D30	ENST00000445590.2	37	c.90	CCDS1535.2	1																																																																																			0	NULL		0.413	FAM177B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM177B	protein_coding	OTTHUMT00000092151.2	51	124	0	0.00	0	0	C	NM_207468	0	0		222919977	1	no_errors	ENST00000360827	ensembl	human	known	74_37	silent	49	143	7.55	11.73	4	19	SNP	0.998	T	T	222919977	C	T	222919977	2	4	11	1	0	0	0	0	0	0	0	1	5502	535	19	1		1	FAM177B	1	222919977	Silent	SNP	C	TCGA-4V-A9QJ-01A-11D-A423-09	69182786	222919977	26330644	5	116											
IMPG1	3617	genome.wustl.edu	37	chr6	76640725	76640725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttgtgccagggccacAgaggcctggttccagaccgt	6	10	12	13	1	0	2	0	0	0	2	2	2	2	2	6	3	1	1	6	3	0	3			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr6:76640725A>G	ENST00000369950.3	-	15	2377	c.2188T>C	c.(2188-2190)Tgt>Cgt	p.C730R	IMPG1_ENST00000369963.3_3'UTR|Y_RNA_ENST00000363170.1_RNA	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)				CCAGGGCCACAGAGGCCTGGT	0.557																																					Pancreas(37;839 1141 2599 26037)		0											0													121	105	110					6																	76640725		2203	4300	6503	SO:0001583	missense	0			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.2188T>C	6.37:g.76640725A>G	ENSP00000358966:p.Cys730Arg			Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.C730R	ENST00000369950.3	37	c.2188	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286314	0.59867	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.61627	0.09;0.77	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000005	T	0.47395	0.1443	L	0.60067	1.865	0.80722	D	1	P	0.51240	0.943	B	0.44278	0.445	T	0.58042	-0.7706	10	0.87932	D	0	.	13.7929	0.63152	1.0:0.0:0.0:0.0	.	730	Q17R60	IMPG1_HUMAN	R	730;91	ENSP00000358966:C730R;ENSP00000358968:C91R	ENSP00000358966:C730R	C	-	1	0	IMPG1	76697445	1.000000	0.71417	0.212000	0.23672	0.010000	0.07245	8.101000	0.89546	2.084000	0.62774	0.378000	0.23410	TGT	0	NULL		0.557	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	protein_coding	OTTHUMT00000041288.1	54	67	0	0.00	0	0	A	NM_001563	0	0		76640725	-1	no_errors	ENST00000369950	ensembl	human	known	74_37	missense	40	128	9.09	7.86	4	11	SNP	0.997	G	G	76640725	A	G	76640725	3	3	11	1	0	0	0	0	1	0	0	0	7728	188	7	4	217	4	IMPG1	6	76640725	Missense_Mutation	SNP	A	TCGA-4V-A9QJ-01A-11D-A423-09		76640725	94474342	6	117											
ARID3C	138715	genome.wustl.edu	37	chr9	34621494	34621494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggggccctgtggagggtggGggtgcagggttggttggacc	3	8	24	6	0	0	0	0	0	0	0	0	2	0	2	2	9	1	3	2	9	0	2			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr9:34621494G>A	ENST00000378909.2	-	7	1292	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P	DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000378913.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	400	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)		TGGAGGGTGGGGGTGCAGGGT	0.622																																							0											0													28	33	31					9																	34621494		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1200C>T	9.37:g.34621494G>A				Silent	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P400	ENST00000378909.2	37	c.1200	CCDS35006.1	9																																																																																			0	NULL		0.622	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3C	protein_coding	OTTHUMT00000348265.1	97	21	0	0.00	0	0	G	XM_071061	0	0		34621494	-1	no_errors	ENST00000378909	ensembl	human	known	74_37	silent	89	52	7.22	10.17	7	6	SNP	0.44	A	A	34621494	G	A	34621494	2	1	11	1	0	0	0	0	0	0	0	1	918	1219	43	3		3	ARID3C	9	34621494	Silent	SNP	G	TCGA-4V-A9QJ-01A-11D-A423-09		34621494	106591937	7	118											
GAS2	2620	genome.wustl.edu	37	chr11	22770737	22770737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaacactttctgcccCttctccttcaccttctcctt	8	14	3	16	0	4	2	1	0	3	2	6	2	4	2	5	0	2	0	5	0	2	5			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr11:22770737C>G	ENST00000454584.2	+	6	850	c.545C>G	c.(544-546)cCt>cGt	p.P182R	GAS2_ENST00000278187.3_Missense_Mutation_p.P182R|GAS2_ENST00000433790.1_Missense_Mutation_p.P182R	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	182					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						CTTTCTGCCCCTTCTCCTTCA	0.393																																							0											0													106	107	106					11																	22770737		2203	4300	6503	SO:0001583	missense	0			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.545C>G	11.37:g.22770737C>G	ENSP00000401145:p.Pro182Arg		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.P182R	ENST00000454584.2	37	c.545	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451943	0.63290	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.86	5.86	0.93980	Calponin homology domain (2);	0.110503	0.64402	D	0.000006	T	0.35393	0.0930	L	0.36672	1.1	0.80722	D	1	P	0.37330	0.59	B	0.31751	0.135	T	0.05616	-1.0874	9	.	.	.	-12.3371	20.5632	0.99335	0.0:1.0:0.0:0.0	.	182	O43903	GAS2_HUMAN	R	182	ENSP00000401145:P182R;ENSP00000278187:P182R;ENSP00000435946:P182R;ENSP00000396708:P182R	.	P	+	2	0	GAS2	22727313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.177000	0.77650	2.937000	0.99478	0.650000	0.86243	CCT	0	superfamily_CH-domain		0.393	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	protein_coding	OTTHUMT00000387717.1	102	176	0	0.00	0	0	C	NM_177553	0	0		22770737	1	no_errors	ENST00000278187	ensembl	human	known	74_37	missense	82	320	11.7	7.49	11	26	SNP	1	G	G	22770737	C	G	22770737	3	3	11	1	0	0	0	0	1	0	0	0	6245	681	24	5	563	5	GAS2	11	22770737	Missense_Mutation	SNP	C	TCGA-4V-A9QJ-01A-11D-A423-09		22770737	112235779	8	119											
CDC42BPB	9578	genome.wustl.edu	37	chr14	103410258	103410258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagccgcaggccacatgaGctcctgcgcgcgtgccctcc	6	5	13	17	4	0	1	0	1	0	0	2	2	2	2	5	2	4	2	5	2	0	0			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr14:103410258G>A	ENST00000361246.2	-	30	4666	c.4378C>T	c.(4378-4380)Ctc>Ttc	p.L1460F		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGCCACATGAGCTCCTGCGCG	0.562																																							0											0													44	36	39					14																	103410258		2203	4298	6501	SO:0001583	missense	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4378C>T	14.37:g.103410258G>A	ENSP00000355237:p.Leu1460Phe			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,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,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L1460F	ENST00000361246.2	37	c.4378	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459653	0.84317	.	.	ENSG00000198752	ENST00000361246	T	0.06768	3.26	5.4	4.52	0.55395	Citron-like (3);	0.217647	0.41712	N	0.000826	T	0.31263	0.0791	M	0.84326	2.69	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.75020	0.985;0.985	T	0.15549	-1.0433	10	0.66056	D	0.02	.	14.7352	0.69412	0.0699:0.0:0.9301:0.0	.	1460;1460	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	F	1460	ENSP00000355237:L1460F	ENSP00000355237:L1460F	L	-	1	0	CDC42BPB	102480011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.918000	0.87506	1.426000	0.47256	-0.122000	0.15005	CTC	0	pfam_Citron,smart_Citron		0.562	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	protein_coding	OTTHUMT00000415711.1	29	64	0	0.00	0	0	G	NM_006035	0	0		103410258	-1	no_errors	ENST00000361246	ensembl	human	known	74_37	missense	25	94	7.41	8.74	2	9	SNP	1	A	A	103410258	G	A	103410258	3	1	11	1	0	0	0	0	1	0	0	0	3073	971	34	3	789	3	CDC42BPB	14	103410258	Missense_Mutation	SNP	G	TCGA-4V-A9QJ-01A-11D-A423-09		103410258	3939282	9	120											
TP53	7157	genome.wustl.edu	37	chr17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttccttccactcggataAgatgctgaggaggggccaga	11	9	12	9	1	0	3	0	1	0	2	3	5	2	5	3	4	1	1	3	4	2	3			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|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	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)		0	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)											97	87	90					17																	7578268		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg		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	0	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	61	117	0	0.00	0	0	A	NM_000546	0	0		7578268	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	64	202	11.11	9.82	8	22	SNP	0.996	C	C	7578268	A	C	7578268	3	2	11	1	0	0	0	0	1	0	0	0	16378	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-4V-A9QJ-01A-11D-A423-09		7578268	73616942	10	121											
DNAH9	1770	genome.wustl.edu	37	chr17	11757406	11757406	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggtactgatggctccCaggggtagggtgcccaagga	8	8	17	8	0	0	2	0	2	0	0	1	3	1	3	2	6	2	3	2	6	3	2			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr17:11757406C>A	ENST00000262442.4	+	50	9662	c.9594C>A	c.(9592-9594)ccC>ccA	p.P3198P	DNAH9_ENST00000454412.2_Silent_p.P3198P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3198	Stalk. {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)		TGATGGCTCCCAGGGGTAGGG	0.552																																							0											0													77	74	75					17																	11757406		2203	4300	6503	SO:0001819	synonymous_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9594C>A	17.37:g.11757406C>A			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.P3198	ENST00000262442.4	37	c.9594	CCDS11160.1	17																																																																																			0	superfamily_P-loop_NTPase		0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	44	93	0	0.00	0	0	C	NM_001372	0	0		11757406	1	no_errors	ENST00000262442	ensembl	human	known	74_37	silent	29	134	16.67	8.22	6	12	SNP	0	A	A	11757406	C	A	11757406	2	1	11	1	0	0	0	0	0	0	0	1	4608	581	21	5		5	DNAH9	17	11757406	Silent	SNP	C	TCGA-4V-A9QJ-01A-11D-A423-09	4179138	11757406	69437804	11	122											
NR1H2	7376	genome.wustl.edu	37	chr19	50881580	50881580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgcagtgtggtccgtggtgGggccaggcgctatgcctgcc	3	8	18	12	3	0	0	0	0	0	0	1	0	1	0	4	5	2	2	4	5	1	1			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr19:50881580G>T	ENST00000253727.5	+	5	591	c.356G>T	c.(355-357)gGg>gTg	p.G119V	NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000593926.1_Missense_Mutation_p.G119V|NR1H2_ENST00000599105.1_Missense_Mutation_p.G119V|NR1H2_ENST00000598168.1_Missense_Mutation_p.G119V	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	119					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GTCCGTGGTGGGGCCAGGCGC	0.657																																							0											0													63	74	70					19																	50881580		2198	4297	6495	SO:0001583	missense	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.356G>T	19.37:g.50881580G>T	ENSP00000253727:p.Gly119Val		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	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_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.G119V	ENST00000253727.5	37	c.356	CCDS42593.1	19	.	.	.	.	.	.	.	.	.	.	G	8.305	0.820882	0.16678	.	.	ENSG00000131408	ENST00000253727;ENST00000376942	D	0.96992	-4.2	4.74	2.55	0.30701	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.323408	0.26038	N	0.026710	D	0.89283	0.6671	N	0.04669	-0.19	0.18873	N	0.999988	B;B	0.31256	0.292;0.316	B;B	0.36608	0.166;0.229	D	0.83805	0.0238	10	0.87932	D	0	.	7.0466	0.25048	0.0905:0.3414:0.5681:0.0	.	119;119	P55055;F1D8P7	NR1H2_HUMAN;.	V	119	ENSP00000253727:G119V	ENSP00000253727:G119V	G	+	2	0	NR1H2	55573392	1.000000	0.71417	0.040000	0.18447	0.129000	0.20672	4.242000	0.58714	0.700000	0.31782	-0.305000	0.09177	GGG	0	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt		0.657	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	protein_coding	OTTHUMT00000464724.2	86	55	0	0.00	0	0	G		0	0		50881580	1	no_errors	ENST00000253727	ensembl	human	known	74_37	missense	66	100	10.81	5.66	8	6	SNP	0.039	T	T	50881580	G	T	50881580	3	4	11	1	0	0	0	0	1	0	0	0	10617	1232	43	5	366	5	NR1H2	19	50881580	Missense_Mutation	SNP	G	TCGA-4V-A9QJ-01A-11D-A423-09		50881580	8247403	12	123											
PAX1	5075	genome.wustl.edu	37	chr20	21686535	21686537	+	In_Frame_Del	DEL	GCG	GCG	-																															cctccctctatgcctctcacGcggcggcggcggcgcccaag																										TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr20:21686535_21686537delGCG	ENST00000398485.2	+	1	239_241	c.185_187delGCG	c.(184-189)cgcggc>cgc	p.G66del	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_5'Flank	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	66					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						TGCCTCTCACGCGGCGGCGGCGG	0.818																																							0											0																																										SO:0001651	inframe_deletion	0				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.185_187delGCG	20.37:g.21686544_21686546delGCG	ENSP00000381499:p.Gly66del		B4E0D6|Q642X9|Q6NTC0|Q9Y558	In_Frame_Del	DEL	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.G66in_frame_del	ENST00000398485.2	37	c.185_187	CCDS13146.2	20																																																																																			0	NULL		0.818	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	protein_coding	OTTHUMT00000078282.3	20	15	0	0.00	0	0	GCG		0	0		21686537	1	no_errors	ENST00000398485	ensembl	human	known	74_37	in_frame_del	15	9	11.76	0.00	2	0	DEL	0.671:0.644:0.606	0	-	21686537	GCG	-	21686535	7	5	11	1	0	1	0	1	0	0	0	0	11478	1087	38	0	187	0	PAX1	20	21686535	In_Frame_Del	DEL	GCG	TCGA-4V-A9QJ-01A-11D-A423-09		21686535	41338985	13	124											
KIF3B	9371	genome.wustl.edu	37	chr20	30918006	30918006	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccagagactatgagggTccagccattgcccccaaggt	11	6	10	14	0	0	2	0	1	0	1	1	3	1	2	6	2	2	0	6	2	2	2			TCGA-4V-A9QJ-01A-11D-A423-09	TCGA-4V-A9QJ-11A-11D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	371c6c30-dfcd-44c9-8a2d-d1d88a732d45	779572d5-58a0-4ba8-baa1-808c94f63b7f	g.chr20:30918006T>C	ENST00000375712.3	+	8	2198	c.2031T>C	c.(2029-2031)ggT>ggC	p.G677G	KIF3B_ENST00000418717.2_Silent_p.G303G	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	677	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)			ACTATGAGGGTCCAGCCATTG	0.532																																							0											0													70	64	66					20																	30918006		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2031T>C	20.37:g.30918006T>C			B2RMP4|B4DSR5|E1P5M5	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G677	ENST00000375712.3	37	c.2031	CCDS13200.1	20																																																																																			0	NULL		0.532	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	protein_coding	OTTHUMT00000078619.1	43	53	0	0.00	0	0	T	NM_004798	0	0		30918006	1	no_errors	ENST00000375712	ensembl	human	known	74_37	silent	31	81	8.82	5.81	3	5	SNP	0.973	C	C	30918006	T	C	30918006	2	2	11	1	0	0	0	0	0	0	0	1	8301	1654	58	3		3	KIF3B	20	30918006	Silent	SNP	T	TCGA-4V-A9QJ-01A-11D-A423-09	9231471	30918006	32107514	14	125											
SLC4A3	6508	genome.wustl.edu	37	chr2	220500455	220500455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaccccttgctgcggaCgggctcggtatttggggggc	5	9	17	10	3	0	2	0	1	0	1	1	3	0	3	2	6	2	3	2	6	1	3			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr2:220500455C>T	ENST00000358055.3	+	14	2545	c.2033C>T	c.(2032-2034)aCg>aTg	p.T678M	SLC4A3_ENST00000273063.6_Missense_Mutation_p.T705M|SLC4A3_ENST00000317151.3_Missense_Mutation_p.T678M|SLC4A3_ENST00000373762.3_Missense_Mutation_p.T705M|SLC4A3_ENST00000373760.2_Missense_Mutation_p.T678M			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	678					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)		TTGCTGCGGACGGGCTCGGTA	0.642																																							0											0													34	35	35					2																	220500455		2203	4299	6502	SO:0001583	missense	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2033C>T	2.37:g.220500455C>T	ENSP00000350756:p.Thr678Met		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.T705M	ENST00000358055.3	37	c.2114	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810138	0.90707	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	4.62	4.62	0.57501	Bicarbonate transporter, C-terminal (1);	0.063203	0.64402	D	0.000005	D	0.93993	0.8076	M	0.91612	3.225	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.988	D	0.95460	0.8542	10	0.87932	D	0	.	17.8392	0.88710	0.0:1.0:0.0:0.0	.	382;678;705	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	M	678;678;705;705;678	ENSP00000350756:T678M;ENSP00000362865:T678M;ENSP00000273063:T705M;ENSP00000362867:T705M;ENSP00000314006:T678M	ENSP00000273063:T705M	T	+	2	0	SLC4A3	220208699	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.721000	0.84768	2.264000	0.75181	0.643000	0.83706	ACG	0	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	63	79	0	0.00	0	0	C	NM_005070	0	0		220500455	1	no_errors	ENST00000273063	ensembl	human	known	74_37	missense	55	89	8.33	8.25	5	8	SNP	0.999	T	T	220500455	C	T	220500455	3	4	12	1	0	0	0	0	1	0	0	0	14655	536	19	1	2164	1	SLC4A3	2	220500455	Missense_Mutation	SNP	C	TCGA-4V-A9QL-01A-11D-A423-09		220500455	22698918	1	126											
FAM105B	90268	genome.wustl.edu	37	chr5	14673767	14673767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgaggaggacatgtacCgtgctgcagatgaaatagaa	14	8	13	6	1	1	4	1	2	0	2	1	6	1	6	1	2	3	3	1	2	4	2			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr5:14673767C>A	ENST00000284274.4	+	2	247	c.169C>A	c.(169-171)Cgt>Agt	p.R57S		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		57					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)					GGACATGTACCGTGCTGCAGA	0.363																																							0											0													167	164	165					5																	14673767		1891	4115	6006	SO:0001583	missense	0																														ENST00000284274.4:c.169C>A	5.37:g.14673767C>A	ENSP00000284274:p.Arg57Ser		D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	prints_FAM105,prints_FAM105B,prints_FAM105A	p.R57S	ENST00000284274.4	37	c.169	CCDS43302.1	5	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951465	0.73787	.	.	ENSG00000154124	ENST00000284274	T	0.28454	1.61	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.40347	0.1113	N	0.19112	0.55	0.42845	D	0.994063	D	0.67145	0.996	D	0.76575	0.988	T	0.39860	-0.9593	10	0.72032	D	0.01	-6.3053	14.183	0.65586	0.0:1.0:0.0:0.0	.	57	Q96BN8	F105B_HUMAN	S	57	ENSP00000284274:R57S	ENSP00000284274:R57S	R	+	1	0	FAM105B	14726767	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.843000	0.48238	2.404000	0.81709	0.555000	0.69702	CGT	0	prints_FAM105B		0.363	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105B	protein_coding	OTTHUMT00000366012.1	109	387	0	0.00	0	0	C		0	0		14673767	1	no_errors	ENST00000284274	ensembl	human	known	74_37	missense	147	283	8.12	6.89	13	21	SNP	1	A	A	14673767	C	A	14673767	3	1	12	1	0	0	0	0	1	0	0	0	5388	652	23	5	175	5	FAM105B	5	14673767	Missense_Mutation	SNP	C	TCGA-4V-A9QL-01A-11D-A423-09		14673767	166241493	2	127											
PCDHA6	56142	genome.wustl.edu	37	chr5	140207965	140207965	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaccgcgaggagctgtgcGggcggagcgcggagtgcagc	6	4	20	11	7	0	0	0	0	0	0	1	5	0	3	1	4	5	2	1	4	0	0	rs150162226	byFrequency	TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr5:140207965G>C	ENST00000529310.1	+	1	403	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G97R	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	97	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(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)			GGAGCTGTGCGGGCGGAGCGC	0.577																																							0											0													111	127	121					5																	140207965		2203	4291	6494	SO:0001583	missense	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.289G>C	5.37:g.140207965G>C	ENSP00000433378:p.Gly97Arg		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G97R	ENST00000529310.1	37	c.289	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	G	9.482	1.098477	0.20552	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.30981	1.51;1.51	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.213176	0.22539	U	0.058753	T	0.37945	0.1022	M	0.70595	2.14	0.26008	N	0.98203	D;P;P	0.56287	0.975;0.915;0.791	P;P;P	0.46389	0.515;0.49;0.51	T	0.34625	-0.9821	10	0.51188	T	0.08	.	12.2854	0.54789	0.0:0.1713:0.8287:0.0	.	97;97;97	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	97	ENSP00000433378:G97R;ENSP00000434113:G97R	ENSP00000434113:G97R	G	+	1	0	PCDHA6	140188149	0.984000	0.35163	1.000000	0.80357	0.243000	0.25628	5.505000	0.66981	2.139000	0.66308	0.313000	0.20887	GGG	0	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	105	0	0.94	0.00	1	0	G	NM_018909	rs150162226	G->C,T		140207965	1	no_errors	ENST00000529310	ensembl	human	known	74_37	missense	116	0	11.45	0.00	15	0	SNP	0.985	C	C	140207965	G	C	140207965	3	2	12	1	0	0	0	0	1	0	0	0	11528	1116	39	5	291	5	PCDHA6	5	140207965	Missense_Mutation	SNP	G	TCGA-4V-A9QL-01A-11D-A423-09	125534198	140207965	40707295	3	128											
GIGYF1	64599	genome.wustl.edu	37	chr7	100284306	100284306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccagcggtcgccgtctcgCcggggccctgctccgagcct	2	6	14	19	7	1	0	0	0	1	0	4	1	2	0	6	3	3	1	6	3	0	0			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr7:100284306C>T	ENST00000275732.5	-	7	1869	c.660G>A	c.(658-660)cgG>cgA	p.R220R	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	220					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)					CGCCGTCTCGCCGGGGCCCTG	0.692																																							0											0													26	31	29					7																	100284306		2200	4289	6489	SO:0001819	synonymous_variant	0			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.660G>A	7.37:g.100284306C>T			Q6Y7W7|Q8WZ38	Silent	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.R220	ENST00000275732.5	37	c.660	CCDS34708.1	7																																																																																			0	NULL		0.692	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	protein_coding	OTTHUMT00000347205.2	33	8	0	0.00	0	0	C	NM_022574	0	0		100284306	-1	no_errors	ENST00000275732	ensembl	human	known	74_37	silent	34	8	8.11	0.00	3	0	SNP	1	T	T	100284306	C	T	100284306	2	4	12	1	0	0	0	0	0	0	0	1	6377	726	26	3		3	GIGYF1	7	100284306	Silent	SNP	C	TCGA-4V-A9QL-01A-11D-A423-09		100284306	58854357	4	129											
COL14A1	7373	genome.wustl.edu	37	chr8	121219208	121219208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccatgccatcactgggccgCctacggagttgattacttct	7	11	9	14	2	2	1	1	1	1	0	2	2	2	2	4	2	3	1	4	2	2	4			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr8:121219208C>T	ENST00000297848.3	+	10	1336	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	COL14A1_ENST00000309791.4_Missense_Mutation_p.P356S|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.P356S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P261S	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)			CACTGGGCCGCCTACGGAGTT	0.398																																							0											0													60	56	58					8																	121219208		2203	4300	6503	SO:0001583	missense	0				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.1066C>T	8.37:g.121219208C>T	ENSP00000297848:p.Pro356Ser			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.P356S	ENST00000297848.3	37	c.1066	CCDS34938.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.818015|4.818015	0.90790|0.90790	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T;T	.|0.72615	.|2.32;2.32;-0.67;-0.67;2.32	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89608|0.89608	0.6764|0.6764	H|H	0.95402|0.95402	3.665|3.665	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	0.92179|0.92179	0.5750|0.5750	5|10	.|0.87932	.|D	.|0	.|.	19.6893|19.6893	0.95993|0.95993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|356;356	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	V|S	112|356;356;356;261;169	.|ENSP00000443974:P356S;ENSP00000311809:P356S;ENSP00000297848:P356S;ENSP00000247781:P261S;ENSP00000409461:P169S	.|ENSP00000247781:P261S	A|P	+|+	2|1	0|0	COL14A1|COL14A1	121288389|121288389	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.948000|0.948000	0.59901|0.59901	7.034000|7.034000	0.76511|0.76511	2.653000|2.653000	0.90120|0.90120	0.591000|0.591000	0.81541|0.81541	GCC|CCT	0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	protein_coding	OTTHUMT00000313657.2	56	260	1.75	0.00	1	0	C	NM_021110	0	0		121219208	1	no_errors	ENST00000297848	ensembl	human	known	74_37	missense	59	237	16.9	17.99	12	52	SNP	1	T	T	121219208	C	T	121219208	3	4	12	1	0	0	0	0	1	0	0	0	3671	739	26	3	1100	3	COL14A1	8	121219208	Missense_Mutation	SNP	C	TCGA-4V-A9QL-01A-11D-A423-09		121219208	25144814	5	130											
TRAF2	7186	genome.wustl.edu	37	chr9	139811066	139811066	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccatcggctgcctcgagaCggtgagtcggggggtctgag	5	7	18	11	5	1	3	0	2	1	1	4	4	1	3	2	5	1	1	2	5	0	0			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr9:139811066C>A	ENST00000247668.2	+	7	729	c.677C>A	c.(676-678)aCg>aAg	p.T226K	TRAF2_ENST00000359662.3_Splice_Site_p.T278K|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Splice_Site_p.T226K	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	226				Missing (in Ref. 2; BAB70792). {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)		TGCCTCGAGACGGTGAGTCGG	0.602																																							0											0													103	86	92					9																	139811066		2203	4300	6503	SO:0001630	splice_region_variant	0			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.678+1C>A	9.37:g.139811066C>A			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.T278K	ENST00000247668.2	37	c.833	CCDS7013.1	9	.	.	.	.	.	.	.	.	.	.	C	1.973	-0.435984	0.04636	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662	T;T;T	0.28454	1.61;1.61;1.61	4.74	3.53	0.40419	Zinc finger, TRAF-type (1);	0.572005	0.17439	N	0.174186	T	0.11750	0.0286	N	0.04148	-0.265	0.25963	N	0.98261	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.006;0.006;0.002	T	0.32798	-0.9893	10	0.02654	T	1	-14.8619	9.1186	0.36773	0.0:0.0986:0.0:0.9014	.	215;201;226	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	K	226;225;226;278	ENSP00000446414:T226K;ENSP00000247668:T226K;ENSP00000352685:T278K	ENSP00000247668:T226K	T	+	2	0	TRAF2	138930887	0.990000	0.36364	0.785000	0.31869	0.447000	0.32167	1.649000	0.37281	0.679000	0.31345	0.462000	0.41574	ACG	0	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF		0.602	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF2	protein_coding	OTTHUMT00000055166.1	33	120	0	0.00	0	0	C	NM_021138	0	0	Missense_Mutation	139811066	1	no_errors	ENST00000359662	ensembl	human	known	74_37	missense	34	99	10.53	16.10	4	19	SNP	0.989	A	A	139811066	C	A	139811066	5	1	12	1	0	0	0	0	0	0	1	0	16435	550	19	5	699	5	TRAF2	9	139811066	Splice_Site	SNP	C	TCGA-4V-A9QL-01A-11D-A423-09		139811066	1402365	6	131											
UNC93B1	81622	genome.wustl.edu	37	chr11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagcgtcaccagcagcaCcgccagcttagcctgggcgt	8	5	11	17	3	1	0	1	0	0	0	1	0	1	0	5	1	5	3	5	1	1	1	rs4014596		TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					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)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																							0											1	Substitution - Missense(1)	skin(1)											2	2	2					11																	67759316		806	1754	2560	SO:0001583	missense	0			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.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V498M	ENST00000227471.2	37	c.1492		11	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG	0	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		26	0	0	0.00	0	0	C	NM_030930	rs4014596	C->T		67759316	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	36	0	10	0.00	4	0	SNP	0.997	T	T	67759316	C	T	67759316	3	4	12	1	0	0	0	0	1	0	0	0	16994	507	18	3	302	3	UNC93B1	11	67759316	Missense_Mutation	SNP	C	TCGA-4V-A9QL-01A-11D-A423-09		67759316	67247200	7	132											
HCN4	10021	genome.wustl.edu	37	chr15	73617504	73617504	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacagtggcatggaggcCaccagcttccgacagttaaa	13	6	11	11	1	0	0	0	0	0	0	1	2	1	1	3	3	2	4	3	3	3	2			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr15:73617504C>A	ENST00000261917.3	-	6	2763	c.1770G>T	c.(1768-1770)gtG>gtT	p.V590V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	590					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)		GCATGGAGGCCACCAGCTTCC	0.592																																							0											0													127	118	121					15																	73617504		2198	4297	6495	SO:0001819	synonymous_variant	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1770G>T	15.37:g.73617504C>A			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.V590	ENST00000261917.3	37	c.1770	CCDS10248.1	15																																																																																			0	superfamily_cNMP-bd-like		0.592	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	protein_coding	OTTHUMT00000268900.2	36	110	0	0.90	0	1	C	NM_005477	0	0		73617504	-1	no_errors	ENST00000261917	ensembl	human	known	74_37	silent	30	107	21.05	11.57	8	14	SNP	1	A	A	73617504	C	A	73617504	2	1	12	1	0	0	0	0	0	0	0	1	6999	581	21	5		5	HCN4	15	73617504	Silent	SNP	C	TCGA-4V-A9QL-01A-11D-A423-09		73617504	28913888	8	133											
NOTUM	147111	genome.wustl.edu	37	chr17	79918730	79918730	+	Frame_Shift_Del	DEL	C	C	-																															aggtcttcctgccctcgctgCccccggcgcagtgcagcagg																										TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr17:79918730delC	ENST00000409678.3	-	1	439	c.56delG	c.(55-57)ggcfs	p.G19fs		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	19						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)			GCCCTCGCTGCCCCCGGCGCA	0.791																																							0											0													4	4	4					17																	79918730		636	1457	2093	SO:0001589	frameshift_variant	0			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.56delG	17.37:g.79918730delC	ENSP00000387310:p.Gly19fs		Q8N410|Q8NI82	Frame_Shift_Del	DEL	pfam_NOTUM	p.G19fs	ENST00000409678.3	37	c.56	CCDS32771.2	17																																																																																			0	NULL		0.791	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTUM	protein_coding	OTTHUMT00000335123.2	14	2	0	0.00	0	0	C	NM_178493	0	0		79918730	-1	no_errors	ENST00000409678	ensembl	human	known	74_37	frame_shift_del	4	3	33.33	0.00	2	0	DEL	1	0	-	79918730	C	-	79918730	7	5	12	1	0	1	0	1	0	0	0	0	10552	739	26	0	1478	0	NOTUM	17	79918730	Frame_Shift_Del	DEL	C	TCGA-4V-A9QL-01A-11D-A423-09		79918730	1276480	9	134											
CAPNS1	826	genome.wustl.edu	37	chr19	36632025	36632030	+	In_Frame_Del	DEL	GGCGGC	GGCGGC	-																															gcctgatcagcggggccgggGgcggcggcggcggcggcggc																								rs17881832		TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	GGCGGC	GGCGGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr19:36632025_36632030delGGCGGC	ENST00000246533.3	+	2	710_715	c.112_117delGGCGGC	c.(112-117)ggcggcdel	p.GG54del	CAPNS1_ENST00000588815.1_In_Frame_Del_p.GG54del|CAPNS1_ENST00000587718.1_In_Frame_Del_p.GG54del|CAPNS1_ENST00000590874.1_In_Frame_Del_p.GG54del|CAPNS1_ENST00000588780.1_In_Frame_Del_p.GG54del|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000589146.1_Intron	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	54	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)			CGGGGCcgggggcggcggcggcggcg	0.757																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)		0											0																																										SO:0001651	inframe_deletion	0			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.112_117delGGCGGC	19.37:g.36632031_36632036delGGCGGC	ENSP00000246533:p.Gly54_Gly55del		A8K0P1|Q8WTX3|Q96EW0	In_Frame_Del	DEL	pfscan_EF_hand_dom	p.GG41in_frame_del	ENST00000246533.3	37	c.112_117	CCDS12489.1	19																																																																																			0	NULL		0.757	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	protein_coding	OTTHUMT00000457411.2	23	9	0	0.00	0	0	GGCGGC		0	0		36632030	1	no_errors	ENST00000588780	ensembl	human	known	74_37	in_frame_del	5	4	28.57	0.00	2	0	DEL	0.907:0.986:0.987:1.000:1.000:0.998	0	-	36632030	GGCGGC	-	36632025	7	5	12	1	0	1	0	1	0	0	0	0	2633	1232	43	0	114	0	CAPNS1	19	36632025	In_Frame_Del	DEL	GGCGGC	TCGA-4V-A9QL-01A-11D-A423-09		36632025	22496958	10	135											
MORC2	22880	genome.wustl.edu	37	chr22	31331005	31331005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggctgccaaagcagggagCtttggggtactgctgatgac	8	8	16	9	1	0	2	0	2	0	0	0	3	0	3	1	4	5	5	1	4	2	2			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chr22:31331005C>G	ENST00000397641.3	-	19	2364	c.1956G>C	c.(1954-1956)aaG>aaC	p.K652N	MORC2_ENST00000469915.1_5'Flank|MORC2_ENST00000215862.4_Missense_Mutation_p.K590N|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	652						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						AAGCAGGGAGCTTTGGGGTAC	0.617																																							0											0													42	45	44					22																	31331005		2203	4300	6503	SO:0001583	missense	0			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.1956G>C	22.37:g.31331005C>G	ENSP00000380763:p.Lys652Asn		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.K652N	ENST00000397641.3	37	c.1956		22	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337749	0.24253	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.12984	2.63;2.63	5.76	-0.524	0.11920	.	0.584721	0.18521	N	0.138780	T	0.11281	0.0275	L	0.43152	1.355	0.09310	N	0.999995	P	0.46706	0.883	B	0.39706	0.307	T	0.18085	-1.0348	10	0.52906	T	0.07	.	11.3712	0.49699	0.0:0.5658:0.0:0.4342	.	652	Q9Y6X9	MORC2_HUMAN	N	652;590	ENSP00000380763:K652N;ENSP00000215862:K590N	ENSP00000215862:K590N	K	-	3	2	MORC2	29661005	0.179000	0.23135	0.166000	0.22797	0.290000	0.27261	-0.189000	0.09629	0.090000	0.17273	-0.122000	0.15005	AAG	0	NULL		0.617	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	protein_coding	OTTHUMT00000321710.2	17	71	0	0.00	0	0	C	NM_014941	0	0		31331005	-1	no_errors	ENST00000397641	ensembl	human	known	74_37	missense	21	74	25	16.85	7	15	SNP	0.044	G	G	31331005	C	G	31331005	3	3	12	1	0	0	0	0	1	0	0	0	9702	796	28	5	1174	5	MORC2	22	31331005	Missense_Mutation	SNP	C	TCGA-4V-A9QL-01A-11D-A423-09		31331005	19973561	11	136											
GPR64	10149	genome.wustl.edu	37	chrX	19017307	19017307	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacagagctgaaccaggacCacaatgaacatgctgacgtt	14	6	10	11	2	0	4	0	3	0	1	0	6	0	5	2	1	4	3	2	1	3	1			TCGA-4V-A9QL-01A-11D-A423-09	TCGA-4V-A9QL-11A-11D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1c70258-8a14-46c4-b3cb-221b5105fd09	f8154ac8-0d41-40e1-869f-913e3885bad6	g.chrX:19017307C>G	ENST00000379869.3	-	26	2584	c.2421G>C	c.(2419-2421)gtG>gtC	p.V807V	GPR64_ENST00000354791.3_Silent_p.V791V|GPR64_ENST00000340581.3_Silent_p.V688V|GPR64_ENST00000379873.2_Silent_p.V807V|GPR64_ENST00000357991.3_Silent_p.V804V|GPR64_ENST00000379876.1_Silent_p.V783V|GPR64_ENST00000360279.4_Silent_p.V785V|GPR64_ENST00000357544.3_Silent_p.V777V|GPR64_ENST00000379878.3_Silent_p.V791V|GPR64_ENST00000356606.4_Silent_p.V793V	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	807					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)					GAACCAGGACCACAATGAACA	0.438																																							0											0													143	138	140					X																	19017307		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2421G>C	X.37:g.19017307C>G			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.V807	ENST00000379869.3	37	c.2421	CCDS43923.1	X																																																																																			0	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.438	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	protein_coding	OTTHUMT00000055970.2	68	163	0	0.00	0	0	C		0	0		19017307	-1	no_errors	ENST00000379869	ensembl	human	known	74_37	silent	79	174	24.04	20.45	25	45	SNP	0.918	G	G	19017307	C	G	19017307	2	3	12	1	0	0	0	0	0	0	0	1	6705	581	21	5		5	GPR64	23	19017307	Silent	SNP	C	TCGA-4V-A9QL-01A-11D-A423-09		19017307	136253253	12	137											
ECE2	9718	genome.wustl.edu	37	chr3	183976104	183976104	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcttgtccctggaggccGgtttatctcaatgacttctg	5	14	11	11	2	2	1	1	1	2	0	4	2	3	2	2	3	1	2	2	3	2	4			TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr3:183976104G>A	ENST00000402825.3	+	2	480				EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Missense_Mutation_p.R170Q	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)			CCTGGAGGCCGGTTTATCTCA	0.552																																							0											0													146	139	141					3																	183976104		2203	4300	6503	SO:0001627	intron_variant	0			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.480+560G>A	3.37:g.183976104G>A			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12	p.R170Q	ENST00000402825.3	37	c.509	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992438	0.35131	.	.	ENSG00000145194	ENST00000324557	T	0.64618	-0.11	4.97	3.19	0.36642	.	.	.	.	.	T	0.47507	0.1449	.	.	.	0.80722	D	1	B	0.20164	0.042	B	0.09377	0.004	T	0.30149	-0.9988	8	0.27785	T	0.31	.	10.4123	0.44301	0.1606:0.0:0.8394:0.0	.	170	O60344-4	.	Q	170	ENSP00000314295:R170Q	ENSP00000314295:R170Q	R	+	2	0	ECE2	185458798	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.675000	0.68123	0.698000	0.31739	0.655000	0.94253	CGG	0	pfam_Methyltransf_11,pfam_Methyltransf_12		0.552	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	protein_coding	OTTHUMT00000318874.3	46	179	0	0.56	0	1	G	NM_014693	0	0		183976104	1	no_errors	ENST00000324557	ensembl	human	known	74_37	missense	28	100	17.65	23.08	6	30	SNP	1	A	A	183976104	G	A	183976104	1	1	13	0	1	0	0	0	0	0	0	0	4890	1116	39	2		2	ECE2	3	183976104	Intron	SNP	G	TCGA-4V-A9QM-01A-11D-A423-09		183976104	14046326	1	138											
SMAP1	60682	genome.wustl.edu	37	chr6	71508379	71508379	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaaaaggaaaaaaaaaAggaagagaaaaagagagaaa	30	0	11	0	0	0	4	0	0	0	4	0	9	0	6	0	2	0	0	0	2	12	0	rs138685504	byFrequency	TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr6:71508379A>C	ENST00000370455.3	+	6	763	c.515A>C	c.(514-516)aAg>aCg	p.K172T	SMAP1_ENST00000370452.3_Missense_Mutation_p.K145T|SMAP1_ENST00000316999.5_Missense_Mutation_p.K145T	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	172					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145M(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						gaaaaaaaaaaggaagagaaa	0.294																																							0											1	Substitution - Missense(1)	breast(1)											26	32	30					6																	71508379		2192	4273	6465	SO:0001583	missense	0			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"ADP-ribosylation factor GTPase activating proteins"	19651	protein-coding gene	gene with protein product		611372	"stromal membrane-associated protein 1", "stromal membrane-associated GTPase-activating protein 1"			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.515A>C	6.37:g.71508379A>C	ENSP00000359484:p.Lys172Thr		Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.K172T	ENST00000370455.3	37	c.515	CCDS43478.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.17|16.17	3.048516|3.048516	0.55110|0.55110	.|.	.|.	ENSG00000112305|ENSG00000112305	ENST00000439432|ENST00000370452;ENST00000316999;ENST00000370455;ENST00000370442	T|T;T;T	0.63096|0.25414	-0.02|2.08;2.09;1.8	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.673120|0.673120	0.14847|0.14847	N|N	0.294925|0.294925	T|T	0.26738|0.26738	0.0654|0.0654	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|P;D;D;P	.|0.71674	.|0.704;0.998;0.99;0.704	.|B;D;P;B	.|0.63877	.|0.343;0.919;0.858;0.197	T|T	0.02632|0.02632	-1.1131|-1.1131	8|10	0.87932|0.15499	D|T	0|0.54	-6.764|-6.764	13.508|13.508	0.61495|0.61495	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|172;145;145;172	.|A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.|.;.;.;SMAP1_HUMAN	N|T	46|145;145;172;84	ENSP00000398306:K46N|ENSP00000359481:K145T;ENSP00000313382:K145T;ENSP00000359484:K172T	ENSP00000398306:K46N|ENSP00000313382:K145T	K|K	+|+	3|2	2|0	SMAP1|SMAP1	71565100|71565100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.929000|4.929000	0.63455|0.63455	2.130000|2.130000	0.65690|0.65690	0.533000|0.533000	0.62120|0.62120	AAA|AAG	0	NULL		0.294	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	protein_coding	OTTHUMT00000041149.1	89	121	0	0.00	0	0	A	NM_001044305	0	0		71508379	1	no_errors	ENST00000370455	ensembl	human	known	74_37	missense	177	97	18.81	27.61	41	37	SNP	1	C	C	71508379	A	C	71508379	3	2	13	1	0	0	0	0	1	0	0	0	14766	72	3	5	537	5	SMAP1	6	71508379	Missense_Mutation	SNP	A	TCGA-4V-A9QM-01A-11D-A423-09		71508379	99606688	2	139											
LMTK2	22853	genome.wustl.edu	37	chr7	97822349	97822349	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgtctccaccaggacAtcagtccagacgctgtgact	10	8	10	13	1	2	2	1	1	1	1	4	4	3	4	3	2	0	1	3	2	0	0			TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr7:97822349A>T	ENST00000297293.5	+	11	2865	c.2572A>T	c.(2572-2574)Atc>Ttc	p.I858F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	858					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)					CCACCAGGACATCAGTCCAGA	0.567																																							0											0													68	65	66					7																	97822349		2203	4300	6503	SO:0001583	missense	0			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.2572A>T	7.37:g.97822349A>T	ENSP00000297293:p.Ile858Phe		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.I858F	ENST00000297293.5	37	c.2572	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	A	9.336	1.061660	0.19987	.	.	ENSG00000164715	ENST00000297293	T	0.77750	-1.12	5.53	-11.1	0.00147	.	1.568470	0.03188	N	0.173030	T	0.56949	0.2020	L	0.29908	0.895	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.46610	-0.9179	10	0.25751	T	0.34	.	2.5583	0.04765	0.2316:0.3696:0.246:0.1528	.	858	Q8IWU2	LMTK2_HUMAN	F	858	ENSP00000297293:I858F	ENSP00000297293:I858F	I	+	1	0	LMTK2	97660285	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.199000	0.09491	-3.975000	0.00085	-2.518000	0.00185	ATC	0	NULL		0.567	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	protein_coding	OTTHUMT00000334560.1	30	141	0	0.00	0	0	A	NM_014916	0	0		97822349	1	no_errors	ENST00000297293	ensembl	human	known	74_37	missense	30	117	16.67	17.61	6	25	SNP	0	T	T	97822349	A	T	97822349	3	4	13	1	0	0	0	0	1	0	0	0	8859	217	8	5	2614	5	LMTK2	7	97822349	Missense_Mutation	SNP	A	TCGA-4V-A9QM-01A-11D-A423-09		97822349	61316314	3	140											
MTAP	4507	genome.wustl.edu	37	chr9	21815456	21815456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataattggtggaacaggcCtggatgatccagaaatttta	14	11	11	5	0	0	2	0	1	0	1	1	5	1	4	2	4	1	0	2	4	5	4			TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr9:21815456C>G	ENST00000460874.2	+	2	334	c.109C>G	c.(109-111)Ctg>Gtg	p.L37V	MTAP_ENST00000580900.1_Missense_Mutation_p.L20V|MTAP_ENST00000380172.4_Missense_Mutation_p.L20V|MTAP_ENST00000427788.2_3'UTR|RP11-145E5.5_ENST00000404796.2_Missense_Mutation_p.L20V					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		TGGAACAGGCCTGGATGATCC	0.308																																							0											2	Whole gene deletion(2)	lung(2)											66	70	69					9																	21815456		2203	4300	6503	SO:0001583	missense	0			AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"S-methyl-5'-thioadenosine phosphorylase"	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.109C>G	9.37:g.21815456C>G	ENSP00000461932:p.Leu37Val			Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP	p.L20V	ENST00000460874.2	37	c.58		9	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984495	0.53934	.	.	ENSG00000099810	ENST00000380172	T	0.53423	0.62	5.35	2.46	0.29980	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	M	0.70595	2.14	0.80722	D	1	P;P;P	0.49635	0.519;0.836;0.926	B;P;P	0.56700	0.357;0.804;0.672	T	0.51020	-0.8758	10	0.34782	T	0.22	-12.6319	8.1314	0.31029	0.0:0.6698:0.0:0.3302	.	37;20;20	B4DUC8;F2Z2F3;Q13126	.;.;MTAP_HUMAN	V	20	ENSP00000369519:L20V	ENSP00000369519:L20V	L	+	1	2	MTAP	21805456	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	2.615000	0.46368	0.315000	0.23110	-0.251000	0.11542	CTG	0	pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP		0.308	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	MTAP	protein_coding	OTTHUMT00000051929.2	45	127	0	0.00	0	0	C	NM_002451	0	0		21815456	1	no_errors	ENST00000380172	ensembl	human	known	74_37	missense	58	69	28.4	36.11	23	39	SNP	1	G	G	21815456	C	G	21815456	3	3	13	1	0	0	0	0	1	0	0	0	9911	680	24	5	64	5	MTAP	9	21815456	Missense_Mutation	SNP	C	TCGA-4V-A9QM-01A-11D-A423-09		21815456	119397975	4	141											
VCP	7415	genome.wustl.edu	37	chr9	35059646	35059647	+	Frame_Shift_Ins	INS	-	-	T																															tagcgccaatgatgaacacaINStttttttttgtggacatgcc																										TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr9:35059646_35059647insT	ENST00000358901.6	-	14	2742_2743	c.1847_1848insA	c.(1846-1848)aatfs	p.N616fs		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	616					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)	p.N616fs*63(1)		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)			TGATGAACACATTTTTTTTTGT	0.515																																							0											1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			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.1848dupA	9.37:g.35059655_35059655dupT	ENSP00000351777:p.Asn616fs		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Frame_Shift_Ins	INS	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.N616fs	ENST00000358901.6	37	c.1848_1847	CCDS6573.1	9																																																																																			0	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48		0.515	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	protein_coding	OTTHUMT00000052290.1	34	140	0	0.71	0	1	0	NM_007126	0	0		35059647	-1	no_errors	ENST00000358901	ensembl	human	known	74_37	frame_shift_ins	30	114	9.09	8.06	3	10	INS	1.000:1.000	T	T	35059647	-	T	35059646	7	5	13	1	0	1	1	0	0	0	0	0	17137	214	8	0	588	0	VCP	9	35059646	Frame_Shift_Ins	INS	-	TCGA-4V-A9QM-01A-11D-A423-09	13244190	35059646	106153785	5	142											
PLCE1	51196	genome.wustl.edu	37	chr10	96066442	96066442	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccactgaaagctttaaaaCgaggtagaataaaattgtcc	16	11	7	7	1	0	2	0	1	0	1	2	3	2	2	2	1	2	2	2	1	7	6			TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr10:96066442C>T	ENST00000371380.3	+	25	6116	c.5881C>T	c.(5881-5883)Cga>Tga	p.R1961*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.R1653*|PLCE1_ENST00000260766.3_Nonsense_Mutation_p.R1961*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.R1653*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1961					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)				AGCTTTAAAACGaggtagaat	0.358																																							0											0													48	42	44					10																	96066442		1841	4101	5942	SO:0001587	stop_gained	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5881C>T	10.37:g.96066442C>T	ENSP00000360431:p.Arg1961*		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.R1961*	ENST00000371380.3	37	c.5881	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	49	15.756234	0.99844	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.43	-0.474	0.12108	.	0.150864	0.45361	D	0.000375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	16.6404	0.85070	0.6921:0.3079:0.0:0.0	.	.	.	.	X	1961;1961;1653;1653	.	ENSP00000260766:R1961X	R	+	1	2	PLCE1	96056432	0.953000	0.32496	0.980000	0.43619	0.993000	0.82548	0.696000	0.25541	0.020000	0.15106	0.655000	0.94253	CGA	0	superfamily_C2_dom,smart_C2_dom,prints_Pinositol_PLipase_C		0.358	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	42	215	0	0.00	0	0	C	NM_016341	0	0		96066442	1	no_errors	ENST00000260766	ensembl	human	known	74_37	nonsense	33	175	28.26	24.57	13	57	SNP	0.519	T	T	96066442	C	T	96066442	4	4	13	1	0	0	0	0	0	1	0	0	12034	528	19	1	6265	1	PLCE1	10	96066442	Nonsense_Mutation	SNP	C	TCGA-4V-A9QM-01A-11D-A423-09		96066442	39468305	6	143											
RBM23	55147	genome.wustl.edu	37	chr14	23375467	23375467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgatggtcccgacttcgcGactcactaccatgtcgacga	9	8	10	14	6	1	0	1	0	0	0	4	6	2	0	2	1	1	0	2	1	1	2			TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr14:23375467G>A	ENST00000359890.3	-	5	533	c.338C>T	c.(337-339)tCg>tTg	p.S113L	RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000346528.5_Missense_Mutation_p.S97L|RBM23_ENST00000556984.1_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.S97L|RBM23_ENST00000555209.1_5'UTR	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	113	Arg-rich.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S113L(1)		endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CCGACTTCGCGACTCACTACC	0.517																																							0											1	Substitution - Missense(1)	lung(1)											82	86	85					14																	23375467		2097	4227	6324	SO:0001583	missense	0			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"RNA binding motif (RRM) containing"	20155	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen recep- tors beta"		"RNA-binding region (RNP1, RRM) containing 4"	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.338C>T	14.37:g.23375467G>A	ENSP00000352956:p.Ser113Leu		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF	p.S113L	ENST00000359890.3	37	c.338	CCDS41921.1	14	.	.	.	.	.	.	.	.	.	.	G	7.688	0.690414	0.15039	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000554256;ENST00000557549;ENST00000555676	T;T;T	0.80033	-1.33;3.56;0.99	4.96	4.06	0.47325	.	0.248699	0.28016	N	0.016927	T	0.67107	0.2858	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.24483	0.104;0.104;0.104;0.063	B;B;B;B	0.21708	0.036;0.036;0.036;0.016	T	0.55897	-0.8068	10	0.10111	T	0.7	-1.3227	11.1765	0.48603	0.0774:0.1294:0.7932:0.0	.	113;97;97;113	Q86U06-3;Q86U06-4;Q86U06-2;Q86U06	.;.;.;RBM23_HUMAN	L	113;90;97;97;113;97;97	ENSP00000352956:S113L;ENSP00000382806:S97L;ENSP00000339220:S97L	ENSP00000305783:S113L	S	-	2	0	RBM23	22445307	0.879000	0.30193	0.998000	0.56505	0.635000	0.38103	1.454000	0.35178	0.623000	0.30267	-0.797000	0.03246	TCG	0	tigrfam_CC1_SF		0.517	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM23	protein_coding	OTTHUMT00000413545.3	43	158	0	0.00	0	0	G		0	0		23375467	-1	no_errors	ENST00000359890	ensembl	human	known	74_37	missense	43	107	12.24	13.49	6	17	SNP	0.997	A	A	23375467	G	A	23375467	3	1	13	1	0	0	0	0	1	0	0	0	13123	1059	37	2	1021	2	RBM23	14	23375467	Missense_Mutation	SNP	G	TCGA-4V-A9QM-01A-11D-A423-09		23375467	83974073	7	144											
KIAA0556	23247	genome.wustl.edu	37	chr16	27763207	27763207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgacggcgagggggatgagCggcccttcacccaggctggc	6	4	17	14	4	1	1	1	1	0	0	1	4	1	2	3	6	1	1	3	6	0	1	rs558540912		TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr16:27763207C>T	ENST00000261588.4	+	17	3533	c.3514C>T	c.(3514-3516)Cgg>Tgg	p.R1172W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1172						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						GGGGGATGAGCGGCCCTTCAC	0.627													C|||	1	0.000199681	0	0	5008	,	,		13963	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0													40	42	41					16																	27763207		2197	4300	6497	SO:0001583	missense	0			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.3514C>T	16.37:g.27763207C>T	ENSP00000261588:p.Arg1172Trp		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.R1172W	ENST00000261588.4	37	c.3514	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714770	0.68730	.	.	ENSG00000047578	ENST00000261588	T	0.13778	2.56	5.02	-0.0234	0.13943	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	M	0.80028	2.48	0.44771	D	0.997778	D	0.89917	1.0	D	0.91635	0.999	T	0.27297	-1.0078	10	0.87932	D	0	.	13.846	0.63468	0.5455:0.4545:0.0:0.0	.	1172	O60303	K0556_HUMAN	W	1172	ENSP00000261588:R1172W	ENSP00000261588:R1172W	R	+	1	2	KIAA0556	27670708	0.924000	0.31332	0.908000	0.35775	0.734000	0.41952	0.826000	0.27407	-0.161000	0.10983	0.585000	0.79938	CGG	0	NULL		0.627	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	protein_coding	OTTHUMT00000433724.1	28	58	0	0.00	0	0	C	NM_015202	rs558540912	C->T		27763207	1	no_errors	ENST00000261588	ensembl	human	known	74_37	missense	18	41	21.74	21.15	5	11	SNP	1	T	T	27763207	C	T	27763207	3	4	13	1	0	0	0	0	1	0	0	0	8183	759	27	1	3580	1	KIAA0556	16	27763207	Missense_Mutation	SNP	C	TCGA-4V-A9QM-01A-11D-A423-09		27763207	62591546	8	145											
SNX20	124460	genome.wustl.edu	37	chr16	50707489	50707489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtagcgatggccctccCgggcctgcaggcgctgcagg	6	6	15	14	3	0	0	0	0	0	0	1	1	1	0	3	4	3	4	3	4	2	2			TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr16:50707489C>T	ENST00000330943.4	-	4	950	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	260					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						ATGGCCCTCCCGGGCCTGCAG	0.726																																							0											0													14	16	15					16																	50707489		2170	4249	6419	SO:0001583	missense	0			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.779G>A	16.37:g.50707489C>T	ENSP00000332062:p.Arg260Gln		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R260Q	ENST00000330943.4	37	c.779	CCDS10745.1	16	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018604	0.54576	.	.	ENSG00000167208	ENST00000330943	T	0.30448	1.53	5.78	4.82	0.62117	.	0.266794	0.39544	N	0.001336	T	0.29882	0.0747	M	0.68317	2.08	0.09310	N	1	D	0.55385	0.971	B	0.42087	0.375	T	0.30880	-0.9963	10	0.36615	T	0.2	-31.6085	7.5476	0.27777	0.1474:0.7325:0.0:0.12	.	260	Q7Z614	SNX20_HUMAN	Q	260	ENSP00000332062:R260Q	ENSP00000332062:R260Q	R	-	2	0	SNX20	49264990	0.013000	0.17824	0.974000	0.42286	0.955000	0.61496	0.618000	0.24373	1.424000	0.47217	0.561000	0.74099	CGG	0	NULL		0.726	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	protein_coding	OTTHUMT00000256879.2	48	12	0	0.00	0	0	C	NM_153337	0	0		50707489	-1	no_errors	ENST00000330943	ensembl	human	known	74_37	missense	41	9	8.89	0.00	4	0	SNP	0.001	T	T	50707489	C	T	50707489	3	4	13	1	0	0	0	0	1	0	0	0	14892	652	23	2	318	2	SNX20	16	50707489	Missense_Mutation	SNP	C	TCGA-4V-A9QM-01A-11D-A423-09	22944282	50707489	39647264	9	146											
C19orf57	79173	genome.wustl.edu	37	chr19	14001021	14001021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaggcttgctgtcatcggcCccttgttctgacaggtggtc	4	13	12	12	1	3	1	2	1	1	0	5	1	3	1	2	4	1	3	2	4	0	3			TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr19:14001021C>T	ENST00000586783.1	-	5	647	c.648G>A	c.(646-648)ggG>ggA	p.G216G	C19orf57_ENST00000346736.2_Silent_p.G216G|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Silent_p.G216G			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	216					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)			TGTCATCGGCCCCTTGTTCTG	0.597																																							0											0													134	116	122					19																	14001021		2203	4300	6503	SO:0001819	synonymous_variant	0			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.648G>A	19.37:g.14001021C>T			Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	NULL	p.G216	ENST00000586783.1	37	c.648		19																																																																																			0	NULL		0.597	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	protein_coding	OTTHUMT00000457947.1	36	149	0	0.67	0	1	C	NM_024323	0	0		14001021	-1	no_errors	ENST00000454313	ensembl	human	known	74_37	silent	25	113	25.71	25.00	9	38	SNP	0.001	T	T	14001021	C	T	14001021	2	4	13	1	0	0	0	0	0	0	0	1	1939	610	22	3		3	C19orf57	19	14001021	Silent	SNP	C	TCGA-4V-A9QM-01A-11D-A423-09		14001021	45127962	10	147											
ALDH16A1	126133	genome.wustl.edu	37	chr19	49967938	49967938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccctgcccggctgtcctGcctctccaagaacctgaact	7	8	8	18	1	1	2	0	1	1	1	3	3	2	2	7	1	4	1	7	1	3	0			TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr19:49967938G>T	ENST00000293350.4	+	12	1650	c.1487G>T	c.(1486-1488)tGc>tTc	p.C496F	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.C445F|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.C333F|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.C331F	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	496						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)		CGGCTGTCCTGCCTCTCCAAG	0.637																																							0											0													128	132	130					19																	49967938		2203	4300	6503	SO:0001583	missense	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1487G>T	19.37:g.49967938G>T	ENSP00000293350:p.Cys496Phe		B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.C496F	ENST00000293350.4	37	c.1487	CCDS12766.1	19	.	.	.	.	.	.	.	.	.	.	G	2.170	-0.390192	0.04932	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.72835	-0.69;-0.44;-0.61;-0.61	5.27	-6.93	0.01638	Aldehyde/histidinol dehydrogenase (1);	2.110200	0.02175	N	0.060023	T	0.39655	0.1086	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	0.36359	-0.9751	10	0.09843	T	0.71	-18.7822	1.2798	0.02038	0.1424:0.1911:0.2466:0.4198	.	333;445;496	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	F	496;445;333;331	ENSP00000293350:C496F;ENSP00000410142:C445F;ENSP00000445088:C333F;ENSP00000398675:C331F	ENSP00000293350:C496F	C	+	2	0	ALDH16A1	54659750	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.864000	0.01650	-1.026000	0.03330	-0.367000	0.07326	TGC	0	superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH		0.637	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	protein_coding	OTTHUMT00000465358.1	55	109	0	0.00	0	0	G	NM_153329	0	0		49967938	1	no_errors	ENST00000293350	ensembl	human	known	74_37	missense	43	73	27.12	23.96	16	23	SNP	0	T	T	49967938	G	T	49967938	3	4	13	1	0	0	0	0	1	0	0	0	488	1319	46	5	1533	5	ALDH16A1	19	49967938	Missense_Mutation	SNP	G	TCGA-4V-A9QM-01A-11D-A423-09	35966917	49967938	9161045	11	148											
EP300	2033	genome.wustl.edu	37	chr22	41521972	41521972	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagattcagacaaaaacTgtactatcaaataacttatc	17	11	3	10	0	2	2	2	0	0	2	4	2	3	2	1	0	3	1	1	0	7	5	rs375358513		TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chr22:41521972T>C	ENST00000263253.7	+	3	2053	c.834T>C	c.(832-834)acT>acC	p.T278T		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	278					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						AGACAAAAACTGTACTATCAA	0.428			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														0		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													122	113	116					22																	41521972		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	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.834T>C	22.37:g.41521972T>C			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.T278	ENST00000263253.7	37	c.834	CCDS14010.1	22																																																																																			0	NULL		0.428	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	protein_coding	OTTHUMT00000320600.1	53	202	1.85	0.00	1	0	T	NM_001429	0	0		41521972	1	no_errors	ENST00000263253	ensembl	human	known	74_37	silent	54	146	18.18	26.26	12	52	SNP	0.988	C	C	41521972	T	C	41521972	2	2	13	1	0	0	0	0	0	0	0	1	5148	1567	55	4		4	EP300	22	41521972	Silent	SNP	T	TCGA-4V-A9QM-01A-11D-A423-09		41521972	9782594	12	149											
SRPX	8406	genome.wustl.edu	37	chrX	38080003	38080005	+	In_Frame_Del	DEL	GCA	GCA	-																															cagcagcagcagcagaggcgGcagcagcagcagcagcgcgg																										TCGA-4V-A9QM-01A-11D-A423-09	TCGA-4V-A9QM-11A-11D-A426-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	660b7dac-fbdc-4ea6-b49d-dcc29088a5d4	cc42f8f7-c7cc-4bdc-adc5-250b99c4852b	g.chrX:38080003_38080005delGCA	ENST00000378533.3	-	1	147_149	c.41_43delTGC	c.(40-45)ctgccg>ccg	p.L14del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L14del|RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L14del|SRPX_ENST00000432886.2_In_Frame_Del_p.L14del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	14					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						agcagaggcggcagcagcagcag	0.734											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0									,,,	60,1977		11,31,7,847,252					,,,	-4.7	0		dbSNP_126	3	148,3919		6,91,45,1486,856	no	coding,coding,coding,coding	SRPX	NM_006307.4,NM_001170752.1,NM_001170751.1,NM_001170750.1	,,,	17,122,52,2333,1108	A1A1,A1R,A1,RR,R		3.639,2.9455,3.4076	,,,	,,,		208,5896				SO:0001651	inframe_deletion	0			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.41_43delTGC	X.37:g.38080012_38080014delGCA	ENSP00000367794:p.Leu14del	875	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.L14in_frame_del	ENST00000378533.3	37	c.43_41	CCDS14245.1	X																																																																																			0	NULL		0.734	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	protein_coding	OTTHUMT00000056243.1	15	1	6.25	0.00	1	0	GCA	NM_006307	0	0		38080005	-1	no_errors	ENST00000378533	ensembl	human	known	74_37	in_frame_del	16	3	15.79	0.00	3	0	DEL	0.001:0.001:0.001	0	-	38080005	GCA	-	38080003	7	5	13	1	0	1	0	1	0	0	0	0	15163	1203	42	0	1391	0	SRPX	23	38080003	In_Frame_Del	DEL	GCA	TCGA-4V-A9QM-01A-11D-A423-09		38080003	117190557	13	150											
XPO1	7514	genome.wustl.edu	37	chr2	61706054	61706054	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagcctgccgtagggctatTtctctctcttccaaaaacaa	10	12	6	13	1	3	0	1	0	2	0	6	0	4	0	3	1	3	2	3	1	5	4			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr2:61706054T>C	ENST00000401558.2	-	25	3844	c.3117A>G	c.(3115-3117)gaA>gaG	p.E1039E	XPO1_ENST00000404992.2_Silent_p.E1039E|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603199.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA|XPO1_ENST00000406957.1_Silent_p.E1039E	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	1039					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)			GTAGGGCTATTTCTCTCTCTT	0.383			Mis		CLL																																		0	-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0													122	122	122					2																	61706054		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3117A>G	2.37:g.61706054T>C			A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Silent	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.E1039	ENST00000401558.2	37	c.3117	CCDS33205.1	2																																																																																			0	superfamily_ARM-type_fold		0.383	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	protein_coding	OTTHUMT00000325872.3	46	269	0	0.00	0	0	T	NM_003400	0	0		61706054	-1	no_errors	ENST00000401558	ensembl	human	known	74_37	silent	23	222	58.93	38.84	33	141	SNP	1	C	C	61706054	T	C	61706054	2	2	14	1	0	0	0	0	0	0	0	1	17442	1838	64	3		3	XPO1	2	61706054	Silent	SNP	T	TCGA-4V-A9QN-01A-11D-A423-09		61706054	181493319	1	151											
GLI2	2736	genome.wustl.edu	37	chr2	121745912	121745912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaggagcgccgcgacAgctccaccagcacggtcagc	9	3	13	16	4	1	0	1	0	0	0	2	2	2	1	3	2	6	4	3	2	0	0			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr2:121745912A>G	ENST00000452319.1	+	14	2482	c.2422A>G	c.(2422-2424)Agc>Ggc	p.S808G	GLI2_ENST00000314490.11_Missense_Mutation_p.S480G|GLI2_ENST00000361492.4_Missense_Mutation_p.S808G					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)				GCGCCGCGACAGCTCCACCAG	0.741																																							0											0													7	9	9					2																	121745912		2150	4223	6373	SO:0001583	missense	0				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.2422A>G	2.37:g.121745912A>G	ENSP00000390436:p.Ser808Gly			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S808G	ENST00000452319.1	37	c.2422	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958395	0.92726	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.93366	-3.21;-3.21;-3.21	4.58	4.58	0.56647	.	0.084746	0.85682	D	0.000000	D	0.96941	0.9001	M	0.88704	2.975	0.53688	D	0.999973	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.97110	0.994;0.997;1.0;0.994	D	0.97730	1.0202	10	0.87932	D	0	.	14.1388	0.65306	1.0:0.0:0.0:0.0	.	808;463;463;480	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	G	808;808;480	ENSP00000390436:S808G;ENSP00000354586:S808G;ENSP00000312694:S480G	ENSP00000312694:S480G	S	+	1	0	GLI2	121462382	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.835000	0.92100	1.918000	0.55548	0.459000	0.35465	AGC	0	NULL		0.741	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	protein_coding	OTTHUMT00000332293.3	16	14	0	0.00	0	0	A	NM_005270	0	0		121745912	1	no_errors	ENST00000361492	ensembl	human	known	74_37	missense	7	9	56.25	30.77	9	4	SNP	1	G	G	121745912	A	G	121745912	3	3	14	1	0	0	0	0	1	0	0	0	6438	188	7	4	2472	4	GLI2	2	121745912	Missense_Mutation	SNP	A	TCGA-4V-A9QN-01A-11D-A423-09	60039858	121745912	121453461	2	152											
ANKRD17	26057	genome.wustl.edu	37	chr4	74124012	74124017	+	In_Frame_Del	DEL	TCGTCG	TCGTCG	-																															cctcagaaacctcctcttccTcgtcgtcgtcgtcctcttct																										TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	TCGTCG	TCGTCG	TCGTCG	-	TCGTCG	TCGTCG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr4:74124012_74124017delTCGTCG	ENST00000358602.4	-	1	485_490	c.369_374delCGACGA	c.(367-375)gacgacgag>gag	p.DD123del	ANKRD17_ENST00000330838.6_In_Frame_Del_p.DD123del|RP11-692D12.1_ENST00000502790.1_RNA	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	123					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)			CTCCTCTTCCTCGTCGTCGTCGTCCT	0.641																																							0											0																																										SO:0001651	inframe_deletion	0			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.369_374delCGACGA	4.37:g.74124018_74124023delTCGTCG	ENSP00000351416:p.Asp123_Asp124del		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	In_Frame_Del	DEL	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.DD123in_frame_del	ENST00000358602.4	37	c.374_369	CCDS34004.1	4																																																																																			0	NULL		0.641	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	protein_coding	OTTHUMT00000362475.1	59	139	0	0.00	0	0	TCGTCG	NM_032217	0	0		74124017	-1	no_errors	ENST00000358602	ensembl	human	known	74_37	in_frame_del	27	111	40	22.38	18	32	DEL	1.000:1.000:1.000:1.000:1.000:1.000	0	-	74124017	TCGTCG	-	74124012	7	5	14	1	0	1	0	1	0	0	0	0	646	1551	54	0	7573	0	ANKRD17	4	74124012	In_Frame_Del	DEL	TCGTCG	TCGA-4V-A9QN-01A-11D-A423-09		74124012	117030264	3	153											
TSSK1B	83942	genome.wustl.edu	37	chr5	112770143	112770143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggtcccggtggacgaCgtccaggtcgtggcagtact	6	9	15	11	4	0	1	0	1	0	0	3	3	2	2	2	5	1	2	2	5	1	2	rs556130601		TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr5:112770143C>T	ENST00000390666.3	-	1	585	c.394G>A	c.(394-396)Gtc>Atc	p.V132I	CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CGGTGGACGACGTCCAGGTCG	0.557													C|||	1	0.000199681	0	0	5008	,	,		19864	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0													85	82	83					5																	112770143		2202	4300	6502	SO:0001583	missense	0			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.394G>A	5.37:g.112770143C>T	ENSP00000375081:p.Val132Ile		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.V132I	ENST00000390666.3	37	c.394	CCDS4112.1	5	.	.	.	.	.	.	.	.	.	.	C	0.095	-1.160328	0.01686	.	.	ENSG00000212122	ENST00000390666	T	0.61392	0.11	1.24	0.193	0.15139	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.268702	0.18780	N	0.131369	T	0.18383	0.0441	N	0.01482	-0.84	0.23876	N	0.996598	B	0.11235	0.004	B	0.16289	0.015	T	0.23084	-1.0198	10	0.02654	T	1	.	2.0638	0.03598	0.3075:0.4722:0.0:0.2202	.	132	Q9BXA7	TSSK1_HUMAN	I	132	ENSP00000375081:V132I	ENSP00000375081:V132I	V	-	1	0	TSSK1B	112798042	0.074000	0.21230	0.857000	0.33713	0.098000	0.18820	-0.284000	0.08422	-0.435000	0.07264	-0.823000	0.03104	GTC	0	pfam_Prot_kinase_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		0.557	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	protein_coding	OTTHUMT00000250774.2	38	80	0	0.00	0	0	C	NM_032028	rs556130601	C->T		112770143	-1	no_errors	ENST00000390666	ensembl	human	known	74_37	missense	31	93	40.38	44.64	21	75	SNP	0.982	T	T	112770143	C	T	112770143	3	4	14	1	0	0	0	0	1	0	0	0	16665	536	19	1	713	1	TSSK1B	5	112770143	Missense_Mutation	SNP	C	TCGA-4V-A9QN-01A-11D-A423-09		112770143	68145117	4	154											
PI16	221476	genome.wustl.edu	37	chr6	36930927	36930927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaacttccttagcaaCgaaagacccgccctccatgg	10	6	8	17	2	0	1	0	0	0	1	2	2	2	1	6	2	3	1	6	2	4	2			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr6:36930927C>T	ENST00000373674.3	+	5	1137	c.809C>T	c.(808-810)aCg>aTg	p.T270M	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	270					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						TCCTTAGCAACGAAAGACCCG	0.582																																							0											0													94	85	88					6																	36930927		2203	4300	6503	SO:0001583	missense	0				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.809C>T	6.37:g.36930927C>T	ENSP00000362778:p.Thr270Met		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.T270M	ENST00000373674.3	37	c.809	CCDS34440.1	6	.	.	.	.	.	.	.	.	.	.	C	6.961	0.547294	0.13312	.	.	ENSG00000164530	ENST00000373674;ENST00000539035	T	0.09073	3.02	5.27	3.49	0.39957	.	0.305751	0.27673	N	0.018340	T	0.03220	0.0094	L	0.57536	1.79	0.80722	D	1	P	0.47677	0.899	B	0.32090	0.14	T	0.38457	-0.9660	10	0.87932	D	0	.	9.9511	0.41638	0.0:0.8336:0.0:0.1664	.	270	Q6UXB8	PI16_HUMAN	M	270;122	ENSP00000362778:T270M	ENSP00000362778:T270M	T	+	2	0	PI16	37038905	0.115000	0.22152	0.134000	0.22075	0.060000	0.15804	0.811000	0.27198	0.799000	0.34018	-0.140000	0.14226	ACG	0	NULL		0.582	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI16	protein_coding	OTTHUMT00000040380.1	43	208	0	0.00	0	0	C	NM_153370	0	0		36930927	1	no_errors	ENST00000373674	ensembl	human	known	74_37	missense	6	35	79.31	74.26	23	101	SNP	0.836	T	T	36930927	C	T	36930927	3	4	14	1	0	0	0	0	1	0	0	0	11869	536	19	1	827	1	PI16	6	36930927	Missense_Mutation	SNP	C	TCGA-4V-A9QN-01A-11D-A423-09		36930927	134184140	5	155											
POU3F2	5454	genome.wustl.edu	37	chr6	99283173	99283175	+	In_Frame_Del	DEL	CAG	CAG	-																															agcagcagcaacagcagcaaCagcagcagcagcagcagcaa																										TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr6:99283173_99283175delCAG	ENST00000328345.5	+	1	594_596	c.424_426delCAG	c.(424-426)cagdel	p.Q149del		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	149	Poly-Gln.				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)		acagcagcaacagcagcagcagc	0.714																																							0											0																																										SO:0001651	inframe_deletion	0			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.424_426delCAG	6.37:g.99283182_99283184delCAG	ENSP00000329170:p.Gln149del		Q14960|Q86V54|Q9UJL0	In_Frame_Del	DEL	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.Q145in_frame_del	ENST00000328345.5	37	c.424_426	CCDS5040.1	6																																																																																			0	pirsf_Transcription_factor_POU		0.714	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	protein_coding	OTTHUMT00000041586.2	21	7	0	0.00	0	0	CAG		0	0		99283175	1	no_errors	ENST00000328345	ensembl	human	known	74_37	in_frame_del	12	2	20	0.00	3	0	DEL	1.000:1.000:1.000	0	-	99283175	CAG	-	99283173	7	5	14	1	0	1	0	1	0	0	0	0	12275	479	17	0	426	0	POU3F2	6	99283173	In_Frame_Del	DEL	CAG	TCGA-4V-A9QN-01A-11D-A423-09	62352246	99283173	71831894	6	156											
KCNV2	169522	genome.wustl.edu	37	chr9	2717989	2717989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggggaggtcaccaccGccaagcccgagggccccagc	9	1	15	16	2	1	0	1	0	0	0	1	2	1	1	6	5	2	1	6	5	1	0	rs375827258		TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr9:2717989G>A	ENST00000382082.3	+	1	488	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	84					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)		GGTCACCACCGCCAAGCCCGA	0.642																																							0											0													88	62	71					9																	2717989		2203	4300	6503	SO:0001583	missense	0			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.250G>A	9.37:g.2717989G>A	ENSP00000371514:p.Ala84Thr		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.A84T	ENST00000382082.3	37	c.250	CCDS6447.1	9	.	.	.	.	.	.	.	.	.	.	G	5.127	0.209032	0.09757	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.96802	-4.13	5.18	-1.44	0.08856	.	3.158730	0.01155	N	0.006508	D	0.89185	0.6643	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.80747	-0.1244	10	0.40728	T	0.16	.	2.0054	0.03476	0.2594:0.2173:0.4118:0.1115	.	84	Q8TDN2	KCNV2_HUMAN	T	84	ENSP00000371514:A84T	ENSP00000371514:A84T	A	+	1	0	KCNV2	2707989	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.859000	0.04277	-0.643000	0.05473	0.467000	0.42956	GCC	0	NULL		0.642	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV2	protein_coding	OTTHUMT00000051528.1	29	90	0	0.00	0	0	G	NM_133497	0	0		2717989	1	no_errors	ENST00000382082	ensembl	human	known	74_37	missense	14	42	54.84	42.47	17	31	SNP	0	A	A	2717989	G	A	2717989	3	1	14	1	0	0	0	0	1	0	0	0	8095	1087	38	1	252	1	KCNV2	9	2717989	Missense_Mutation	SNP	G	TCGA-4V-A9QN-01A-11D-A423-09		2717989	138495442	7	157											
NR2F2	7026	genome.wustl.edu	37	chr15	96875650	96875650	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagcttcttcaagcgcAgcgtgcggaggaacctgagc	10	6	14	11	3	2	2	1	1	1	1	2	4	2	4	1	2	6	3	1	2	3	2			TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chr15:96875650A>C	ENST00000394166.3	+	1	1705	c.316A>C	c.(316-318)Agc>Cgc	p.S106R	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000394171.2_5'Flank	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	106					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTTCAAGCGCAGCGTGCGGAG	0.612																																							0											0													73	60	64					15																	96875650		2197	4298	6495	SO:0001583	missense	0			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.316A>C	15.37:g.96875650A>C	ENSP00000377721:p.Ser106Arg		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	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_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.S106R	ENST00000394166.3	37	c.316	CCDS10375.1	15	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961724	0.74016	.	.	ENSG00000185551	ENST00000394166	D	0.97924	-4.61	4.61	4.61	0.57282	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.317042	0.31312	N	0.007865	D	0.97885	0.9305	M	0.93898	3.47	0.80722	D	1	B	0.31625	0.332	B	0.35813	0.211	D	0.98676	1.0690	10	0.87932	D	0	.	12.8472	0.57837	1.0:0.0:0.0:0.0	.	106	P24468	COT2_HUMAN	R	106	ENSP00000377721:S106R	ENSP00000377721:S106R	S	+	1	0	NR2F2	94676654	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.279000	0.95777	1.705000	0.51264	0.379000	0.24179	AGC	0	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.612	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F2	protein_coding	OTTHUMT00000313534.1	29	83	0	0.00	0	0	A		0	0		96875650	1	no_errors	ENST00000394166	ensembl	human	known	74_37	missense	19	64	38.71	34.02	12	33	SNP	1	C	C	96875650	A	C	96875650	3	2	14	1	0	0	0	0	1	0	0	0	10628	188	7	5	365	5	NR2F2	15	96875650	Missense_Mutation	SNP	A	TCGA-4V-A9QN-01A-11D-A423-09		96875650	5655742	8	158											
RLIM	51132	genome.wustl.edu	37	chrX	73815642	73815647	+	Splice_Site	DEL	ACCTGG	ACCTGG	-																															ccttaaatatatgtaagcatAcctggggtgcctagcaaatt																										TCGA-4V-A9QN-01A-11D-A423-09	TCGA-4V-A9QN-11A-11D-A426-09	ACCTGG	ACCTGG	ACCTGG	-	ACCTGG	ACCTGG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	95bd2a4a-0a22-458a-8987-f10d8d60073a	fe5dc7bc-e97b-4d07-91f1-3abcbb984f36	g.chrX:73815642_73815647delACCTGG	ENST00000332687.6	-	2	384_388	c.166_170delCCAGGT	c.(166-171)ccaggt>t	p.PG56del	RLIM_ENST00000349225.2_Splice_Site_p.PG56del	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	56					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						ATGTAAGCATACCTGGGGTGCCTAGC	0.33																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)		0											0																																										SO:0001630	splice_region_variant	0			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.169+1CCAGGT>-	X.37:g.73815642_73815647delACCTGG			B2RBQ1|D3DTE0|Q96D38|Q9Y598	Splice_Site	DEL	0	e2-1	ENST00000332687.6	37	c.169+5_169+1	CCDS14427.1	X																																																																																			0	0		0.33	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	protein_coding	OTTHUMT00000057268.1	157	313	0	0.00	0	0	ACCTGG	NM_016120	0	0	In_Frame_Del	73815647	-1	no_errors	ENST00000332687	ensembl	human	known	74_37	splice_site_del	78	199	12.36	11.16	11	25	DEL	1.000:1.000:1.000:1.000:1.000:1.000	0	-	73815647	ACCTGG	-	73815642	8	5	14	1	0	1	0	1	0	0	1	0	13390	405	14	0	1715	0	RLIM	23	73815642	Splice_Site	DEL	ACCTGG	TCGA-4V-A9QN-01A-11D-A423-09		73815642	81454918	9	159											
DNAH6	1768	genome.wustl.edu	37	chr2	84915588	84915588	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagataaagctgatcggaTttatgatgacatgcctgata	14	11	10	6	1	0	5	0	4	0	1	1	6	0	6	1	1	3	2	1	1	4	4			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chr2:84915588T>C	ENST00000237449.6	+	44	7171	c.7163T>C	c.(7162-7164)aTt>aCt	p.I2388T	DNAH6_ENST00000398278.2_Missense_Mutation_p.I2339T|DNAH6_ENST00000602588.1_Missense_Mutation_p.I360T|DNAH6_ENST00000389394.3_Missense_Mutation_p.I2388T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2388					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						GCTGATCGGATTTATGATGAC	0.343																																							0											0													177	153	161					2																	84915588		692	1591	2283	SO:0001583	missense	0			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.7163T>C	2.37:g.84915588T>C	ENSP00000237449:p.Ile2388Thr		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.I2388T	ENST00000237449.6	37	c.7163	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884953	0.51908	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.39787	1.77;1.06;1.77	5.73	5.73	0.89815	.	.	.	.	.	T	0.44973	0.1319	M	0.66560	2.04	0.42214	D	0.991828	B;B	0.24618	0.107;0.099	B;B	0.28011	0.011;0.085	T	0.36261	-0.9755	9	0.33940	T	0.23	.	15.0009	0.71469	0.0:0.0:0.0:1.0	.	2388;2339	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	T	2388;2339;2388	ENSP00000374045:I2388T;ENSP00000381326:I2339T;ENSP00000237449:I2388T	ENSP00000237449:I2388T	I	+	2	0	DNAH6	84769099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.687000	0.61708	2.187000	0.69744	0.533000	0.62120	ATT	0	superfamily_P-loop_NTPase		0.343	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	protein_coding	OTTHUMT00000328537.2	47	220	0	0.00	0	0	T	NM_001370	0	0		84915588	1	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	66	231	8.33	5.33	6	13	SNP	1	C	C	84915588	T	C	84915588	3	2	15	1	0	0	0	0	1	0	0	0	4605	1493	52	3	7337	3	DNAH6	2	84915588	Missense_Mutation	SNP	T	TCGA-4V-A9QQ-01A-11D-A423-09		84915588	158283785	1	160											
MAML2	84441	genome.wustl.edu	37	chr11	95825372	95825374	+	In_Frame_Del	DEL	TGT	TGT	-																															gctgttgctgctgctgctgcTgttgctgctgctgctgctgc																								rs60727839|rs543548810|rs112603485|rs141671766	byFrequency	TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	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																																		0		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001651	inframe_deletion	0			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		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																																																																																			0	NULL		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	protein_coding	OTTHUMT00000395540.1	43	3	2.27	0.00	1	0	TGT		0	0		95825374	-1	no_errors	ENST00000524717	ensembl	human	known	74_37	in_frame_del	20	5	23.08	0.00	6	0	DEL	0.003:0.003:0.003	0	-	95825374	TGT	-	95825372	7	5	15	1	0	1	0	1	0	0	0	0	9206	1580	55	0	1663	0	MAML2	11	95825372	In_Frame_Del	DEL	TGT	TCGA-4V-A9QQ-01A-11D-A423-09		95825372	39181144	2	161											
MLH3	27030	genome.wustl.edu	37	chr14	75513100	75513100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcaagtacaacatccaCagccacagttgtcaggtctt	12	11	6	12	0	3	0	2	0	2	0	5	0	4	0	2	1	3	2	2	1	3	4			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chr14:75513100C>T	ENST00000556740.1	-	1	3294	c.3259G>A	c.(3259-3261)Gtg>Atg	p.V1087M	MLH3_ENST00000355774.2_Missense_Mutation_p.V1087M|MLH3_ENST00000544985.1_Missense_Mutation_p.V82M|MLH3_ENST00000238662.7_Missense_Mutation_p.V1087M|MLH3_ENST00000380968.2_Missense_Mutation_p.V33M|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.V1087M			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1087					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACAACATCCACAGCCACAGTT	0.423								Mismatch excision repair (MMR)																															0											0													122	104	110					14																	75513100		2203	4300	6503	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3259G>A	14.37:g.75513100C>T	ENSP00000452316:p.Val1087Met		P49751|Q56DK9|Q9P292|Q9UHC0	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,superfamily_WW_dom,smart_MutL_C	p.V1087M	ENST00000556740.1	37	c.3259	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535297	0.85812	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000544985	D;T;D;D;D;T	0.91894	-2.63;-0.04;-2.93;-2.32;-2.63;-0.4	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.95906	0.8667	M	0.72894	2.215	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95805	0.8836	10	0.87932	D	0	-12.5236	19.5721	0.95425	0.0:1.0:0.0:0.0	.	1087;1087	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	M	1087;33;1087;1087;1087;82	ENSP00000348020:V1087M;ENSP00000370355:V33M;ENSP00000238662:V1087M;ENSP00000451540:V1087M;ENSP00000452316:V1087M;ENSP00000441371:V82M	ENSP00000238662:V1087M	V	-	1	0	MLH3	74582853	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.438000	0.66550	2.857000	0.98124	0.650000	0.86243	GTG	0	NULL		0.423	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	protein_coding	OTTHUMT00000415006.1	73	205	0	0.49	0	1	C	NM_014381	0	0		75513100	-1	no_errors	ENST00000355774	ensembl	human	known	74_37	missense	55	217	8.33	13.20	5	33	SNP	1	T	T	75513100	C	T	75513100	3	4	15	1	0	0	0	0	1	0	0	0	9618	478	17	3	1150	3	MLH3	14	75513100	Missense_Mutation	SNP	C	TCGA-4V-A9QQ-01A-11D-A423-09		75513100	31836440	3	162											
AKT1	207	genome.wustl.edu	37	chr14	105246482	105246482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccacatcctgcggccgctCcttgtagccaatgaaggtgc	7	9	11	14	2	0	1	0	1	0	0	3	1	3	1	5	2	3	2	5	2	3	2			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chr14:105246482C>T	ENST00000554581.1	-	2	1598	c.118G>A	c.(118-120)Gag>Aag	p.E40K	AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.E40K|AKT1_ENST00000554848.1_Missense_Mutation_p.E40K|AKT1_ENST00000407796.2_Missense_Mutation_p.E40K|AKT1_ENST00000555528.1_Missense_Mutation_p.E40K|AKT1_ENST00000349310.3_Missense_Mutation_p.E40K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	40	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E40K(1)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TGCGGCCGCTCCTTGTAGCCA	0.582		1	Mis		"breast, colorectal, ovarian, NSCLC"																																		0		Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	1	Substitution - Missense(1)	kidney(1)											122	97	105					14																	105246482		2201	4300	6501	SO:0001583	missense	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.118G>A	14.37:g.105246482C>T	ENSP00000451828:p.Glu40Lys		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.E40K	ENST00000554581.1	37	c.118	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840144	0.91117	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.77	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.47716	1.5	0.80722	D	1	P	0.38535	0.635	P	0.46389	0.515	T	0.36817	-0.9732	10	0.35671	T	0.21	.	16.5167	0.84302	0.0:1.0:0.0:0.0	.	40	P31749	AKT1_HUMAN	K	40	ENSP00000451828:E40K;ENSP00000384293:E40K;ENSP00000270202:E40K;ENSP00000385326:E40K;ENSP00000450688:E40K;ENSP00000451166:E40K;ENSP00000451824:E40K	ENSP00000270202:E40K	E	-	1	0	AKT1	104317527	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.369000	0.79578	2.478000	0.83669	0.462000	0.41574	GAG	0	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.582	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	protein_coding	OTTHUMT00000410418.1	50	168	0	0.00	0	0	C	NM_005163	0	0		105246482	-1	no_errors	ENST00000349310	ensembl	human	known	74_37	missense	44	160	12	15.79	6	30	SNP	1	T	T	105246482	C	T	105246482	3	4	15	1	0	0	0	0	1	0	0	0	478	864	30	3	1372	3	AKT1	14	105246482	Missense_Mutation	SNP	C	TCGA-4V-A9QQ-01A-11D-A423-09	29733382	105246482	2103058	4	163											
DNAH3	55567	genome.wustl.edu	37	chr16	21156603	21156603	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaggtcctgggccatcAaggagtagttgttggcgatg	7	11	15	8	1	2	0	2	0	0	0	3	2	3	1	2	4	0	4	2	4	2	4			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chr16:21156603A>T	ENST00000261383.3	-	3	346	c.347T>A	c.(346-348)tTg>tAg	p.L116*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.L116*|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	116	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)		CTGGGCCATCAAGGAGTAGTT	0.572																																							0											0													165	118	134					16																	21156603		2201	4300	6501	SO:0001587	stop_gained	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.347T>A	16.37:g.21156603A>T	ENSP00000261383:p.Leu116*		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.L116*	ENST00000261383.3	37	c.347	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	A	34	5.292517	0.95546	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	.	.	.	5.81	5.81	0.92471	.	3.113720	0.00741	N	0.001003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6212	0.33861	0.915:0.0:0.085:0.0	.	.	.	.	X	116;116;87	.	ENSP00000261383:L116X	L	-	2	0	DNAH3	21064104	0.957000	0.32711	0.994000	0.49952	0.992000	0.81027	2.418000	0.44662	2.223000	0.72356	0.533000	0.62120	TTG	0	NULL		0.572	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	94	198	0	0.50	0	1	A	NM_017539	0	0		21156603	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	nonsense	50	203	13.79	6.45	8	14	SNP	0.98	T	T	21156603	A	T	21156603	4	4	15	1	0	0	0	0	0	1	0	0	4603	131	5	5	12242	5	DNAH3	16	21156603	Nonsense_Mutation	SNP	A	TCGA-4V-A9QQ-01A-11D-A423-09		21156603	69198150	5	164											
CXorf58	254158	genome.wustl.edu	37	chrX	23957371	23957371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcctaggaaccaaaaaCgggcccatcaggtacaaagg	14	6	10	11	1	2	0	1	0	1	0	2	1	2	1	3	4	4	1	3	4	6	3	rs200387112		TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chrX:23957371C>T	ENST00000379211.3	+	9	1499	c.950C>T	c.(949-951)aCg>aTg	p.T317M		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	317										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						GAACCAAAAACGGGCCCATCA	0.328													C|||	9	0.00238411	0	0	3775	,	,		12941	0.0089		0	False		,,,				2504	0						0											0													117	108	111					X																	23957371		2203	4300	6503	SO:0001583	missense	0			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.950C>T	X.37:g.23957371C>T	ENSP00000368511:p.Thr317Met			Missense_Mutation	SNP	NULL	p.T317M	ENST00000379211.3	37	c.950	CCDS14209.1	X	2	0.0012055455093429777	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	10.16	1.273735	0.23221	.	.	ENSG00000165182	ENST00000379211	T	0.33216	1.42	4.52	-9.05	0.00730	.	2.209180	0.01899	N	0.039081	T	0.16514	0.0397	N	0.14661	0.345	0.09310	N	1	B;B	0.24675	0.109;0.109	B;B	0.13407	0.009;0.009	T	0.10636	-1.0621	10	0.40728	T	0.16	8.6939	10.8927	0.47004	0.2151:0.6574:0.0:0.1275	.	315;317	B7ZLS7;Q96LI9	.;CX058_HUMAN	M	317	ENSP00000368511:T317M	ENSP00000368511:T317M	T	+	2	0	CXorf58	23867292	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-4.117000	0.00292	-1.934000	0.01051	-0.728000	0.03583	ACG	0	NULL		0.328	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf58	protein_coding	OTTHUMT00000056071.1	200	356	0	0.00	0	0	C	NM_152761	rs200387112	C->T		23957371	1	no_errors	ENST00000379211	ensembl	human	known	74_37	missense	383	400	7.04	5.66	29	24	SNP	0	T	T	23957371	C	T	23957371	3	4	15	1	0	0	0	0	1	0	0	0	4114	536	19	1	980	1	CXorf58	23	23957371	Missense_Mutation	SNP	C	TCGA-4V-A9QQ-01A-11D-A423-09		23957371	131313189	6	165											
ZNF81	347344	genome.wustl.edu	37	chrX	47774780	47774780	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacatacaggagtgaagttCtgtgaacgtaatcaatgtgg	14	10	11	6	1	2	2	1	2	1	0	2	3	2	3	0	2	2	2	0	2	5	3			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chrX:47774780C>T	ENST00000376954.1	+	6	1103	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZNF81_ENST00000338637.7_Silent_p.F245F			P51508	ZNF81_HUMAN	zinc finger protein 81	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(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GAGTGAAGTTCTGTGAACGTA	0.393																																							0											0													60	57	58					X																	47774780		1926	4112	6038	SO:0001819	synonymous_variant	0			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.735C>T	X.37:g.47774780C>T			Q6RX22|Q96QH6	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.F245	ENST00000376954.1	37	c.735	CCDS43933.1	X																																																																																			0	NULL		0.393	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	protein_coding	OTTHUMT00000056455.2	109	328	0	0.00	0	0	C	NM_007137	0	0		47774780	1	no_errors	ENST00000338637	ensembl	human	known	74_37	silent	167	352	8.74	5.11	16	19	SNP	0.752	T	T	47774780	C	T	47774780	2	4	15	1	0	0	0	0	0	0	0	1	18171	912	32	3		3	ZNF81	23	47774780	Silent	SNP	C	TCGA-4V-A9QQ-01A-11D-A423-09	23817409	47774780	107495780	7	166											
STAG2	10735	genome.wustl.edu	37	chrX	123182926	123182926	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagtgtttgtacatagataCcggtaagttgtgacagtttt	10	15	12	4	1	0	2	0	1	0	1	0	3	0	3	1	2	2	5	1	2	4	8			TCGA-4V-A9QQ-01A-11D-A423-09	TCGA-4V-A9QQ-10B-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2a14e3b-0b71-4e83-80dc-12ecb6f23e6a	5fbd240c-3130-4de3-a25a-ab3939ce41bb	g.chrX:123182926C>A	ENST00000371160.1	+	10	1181	c.891C>A	c.(889-891)taC>taA	p.Y297*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.Y228*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Y297*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Y297*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Y297*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Y297*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	297	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				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						TACATAGATACCGGTAAGTTG	0.303																																							0											0													88	83	85					X																	123182926		2203	4298	6501	SO:0001587	stop_gained	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.891C>A	X.37:g.123182926C>A	ENSP00000360202:p.Tyr297*		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.Y297*	ENST00000371160.1	37	c.891	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	39	7.465828	0.98302	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.47	3.61	0.41365	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8605	8.0897	0.30793	0.0:0.7132:0.0:0.2868	.	.	.	.	X	297;297;228;297;297;297;297	.	ENSP00000218089:Y297X	Y	+	3	2	STAG2	123010607	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	0.413000	0.21148	0.967000	0.38186	0.600000	0.82982	TAC	0	superfamily_ARM-type_fold		0.303	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	protein_coding	OTTHUMT00000156159.2	57	335	0	0.00	0	0	C	NM_006603	0	0		123182926	1	no_errors	ENST00000218089	ensembl	human	known	74_37	nonsense	94	325	13.76	10.93	15	40	SNP	1	A	A	123182926	C	A	123182926	4	1	15	1	0	0	0	0	0	1	0	0	15242	518	18	5	921	5	STAG2	23	123182926	Nonsense_Mutation	SNP	C	TCGA-4V-A9QQ-01A-11D-A423-09	75408146	123182926	32087634	8	167											
PSMA5	5686	genome.wustl.edu	37	chr1	109957976	109957976	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtctggatcccaatggctgTagaaccaagctaaagagaaa	15	8	10	8	0	1	2	0	0	1	2	2	4	2	3	2	2	2	3	2	2	7	2			TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr1:109957976T>C	ENST00000271308.4	-	3	126	c.106A>G	c.(106-108)Aca>Gca	p.T36A	PSMA5_ENST00000538610.1_5'UTR|PSMA5_ENST00000490870.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	36					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)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		CCAATGGCTGTAGAACCAAGC	0.413																																							0											0													122	117	119					1																	109957976		2203	4300	6503	SO:0001583	missense	0			X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"Proteasome (prosome, macropain) subunits"	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.106A>G	1.37:g.109957976T>C	ENSP00000271308:p.Thr36Ala		B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.T36A	ENST00000271308.4	37	c.106	CCDS799.1	1	.	.	.	.	.	.	.	.	.	.	t	17.87	3.493830	0.64186	.	.	ENSG00000143106	ENST00000271308	T	0.36699	1.24	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	M	0.62723	1.935	0.80722	D	1	B	0.15141	0.012	B	0.31390	0.129	T	0.10154	-1.0642	9	.	.	.	-2.5086	14.8871	0.70579	0.0:0.0:0.0:1.0	.	36	P28066	PSA5_HUMAN	A	36	ENSP00000271308:T36A	.	T	-	1	0	PSMA5	109759499	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	8.016000	0.88706	2.158000	0.67659	0.478000	0.44815	ACA	0	pfam_Proteasome_sua/b		0.413	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA5	protein_coding	OTTHUMT00000033192.2	51	260	0	0.00	0	0	T	NM_002790	0	0		109957976	-1	no_errors	ENST00000271308	ensembl	human	known	74_37	missense	41	274	12.77	15.69	6	51	SNP	1	C	C	109957976	T	C	109957976	3	2	16	1	0	0	0	0	1	0	0	0	12670	1638	57	3	647	3	PSMA5	1	109957976	Missense_Mutation	SNP	T	TCGA-4V-A9QR-01A-11D-A423-09		109957976	139292645	1	168											
RAB3GAP2	25782	genome.wustl.edu	37	chr1	220363843	220363843	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attatttaaacccattatttTatagccaggatacagcagcc	14	13	5	9	0	0	0	0	0	0	0	0	1	0	1	3	1	5	1	3	1	7	8			TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr1:220363843T>C	ENST00000358951.2	-	15	1623	c.1507A>G	c.(1507-1509)Aaa>Gaa	p.K503E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	503					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)		CCCATTATTTTATAGCCAGGA	0.368																																							0											0													73	74	73					1																	220363843		2203	4300	6503	SO:0001583	missense	0			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.1507A>G	1.37:g.220363843T>C	ENSP00000351832:p.Lys503Glu		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.K503E	ENST00000358951.2	37	c.1507	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.834834	0.71373	.	.	ENSG00000118873	ENST00000358951	T	0.30448	1.53	5.93	5.93	0.95920	.	0.043188	0.85682	D	0.000000	T	0.21103	0.0508	N	0.14661	0.345	0.45427	D	0.998406	P	0.40660	0.726	B	0.42827	0.399	T	0.03651	-1.1016	10	0.06236	T	0.91	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	503	Q9H2M9	RBGPR_HUMAN	E	503	ENSP00000351832:K503E	ENSP00000351832:K503E	K	-	1	0	RAB3GAP2	218430466	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.006000	0.70724	2.271000	0.75665	0.533000	0.62120	AAA	0	superfamily_WD40_repeat_dom		0.368	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	protein_coding	OTTHUMT00000090205.2	27	297	0	0.00	0	0	T	NM_012414	0	0		220363843	-1	no_errors	ENST00000358951	ensembl	human	known	74_37	missense	23	304	17.86	10.03	5	34	SNP	1	C	C	220363843	T	C	220363843	3	2	16	1	0	0	0	0	1	0	0	0	12936	1763	61	3	2758	3	RAB3GAP2	1	220363843	Missense_Mutation	SNP	T	TCGA-4V-A9QR-01A-11D-A423-09	110405867	220363843	28886778	2	169											
SR140	23350	genome.wustl.edu	37	chr3	142773813	142773813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacacagtacatcccccagcCcatctcgcagtagcagtggt	10	7	9	15	1	1	0	0	0	1	0	3	1	2	0	3	1	3	4	3	1	2	2			TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr3:142773813C>T	ENST00000473835.2	+	27	2893	c.2803C>T	c.(2803-2805)Cca>Tca	p.P935S	U2SURP_ENST00000397933.2_Missense_Mutation_p.P526S|U2SURP_ENST00000493598.2_Missense_Mutation_p.P934S	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	935	Arg/Ser-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATCCCCCAGCCCATCTCGCAG	0.468																																							0											0													61	57	58					3																	142773813		1926	4137	6063	SO:0001583	missense	0			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2803C>T	3.37:g.142773813C>T	ENSP00000418563:p.Pro935Ser		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom	p.P935S	ENST00000473835.2	37	c.2803	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	C	18.69	3.679033	0.68042	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598	T;T;T	0.39997	1.05;2.08;1.05	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	L	0.46157	1.445	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.993	D;D;D	0.75484	0.986;0.986;0.968	T	0.42548	-0.9445	10	0.19590	T	0.45	-8.9392	20.2982	0.98569	0.0:1.0:0.0:0.0	.	934;526;935	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	S	935;935;526;934	ENSP00000418563:P935S;ENSP00000381027:P526S;ENSP00000422011:P934S	ENSP00000322376:P935S	P	+	1	0	U2SURP	144256503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.262000	0.78410	2.873000	0.98535	0.563000	0.77884	CCA	0	NULL		0.468	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	protein_coding	OTTHUMT00000354603.2	51	153	0	0.00	0	0	C	NM_001080415	0	0		142773813	1	no_errors	ENST00000473835	ensembl	human	known	74_37	missense	47	185	12.96	4.64	7	9	SNP	1	T	T	142773813	C	T	142773813	3	4	16	1	0	0	0	0	1	0	0	0	15130	623	22	3	2909	3	SR140	3	142773813	Missense_Mutation	SNP	C	TCGA-4V-A9QR-01A-11D-A423-09		142773813	55248617	3	170											
ZNF736	728927	genome.wustl.edu	37	chr7	63809328	63809328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttaaccacaagagaattCatatggaagagagaccttac	16	11	7	7	0	1	3	1	0	0	3	1	6	1	4	2	1	2	0	2	1	6	6	rs374153714		TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr7:63809328C>G	ENST00000423484.2	+	4	1209	c.1087C>G	c.(1087-1089)Cat>Gat	p.H363D	ZNF736_ENST00000355095.4_Missense_Mutation_p.H363D			B4DX44	ZN736_HUMAN	zinc finger protein 736	363					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						CAAGAGAATTCATATGGAAGA	0.398																																							0											0													17	17	17					7																	63809328		692	1591	2283	SO:0001583	missense	0				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.1087C>G	7.37:g.63809328C>G	ENSP00000400852:p.His363Asp			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.H363D	ENST00000423484.2	37	c.1087	CCDS55114.1	7	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302539	0.40795	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.67698	-0.28;-0.28	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85062	0.5611	H	0.97051	3.93	0.28285	N	0.923805	D	0.63880	0.993	D	0.72625	0.978	T	0.75051	-0.3454	9	0.87932	D	0	.	7.7491	0.28886	0.0:1.0:0.0:0.0	.	363	B4DX44	ZN736_HUMAN	D	363	ENSP00000347210:H363D;ENSP00000400852:H363D	ENSP00000347210:H363D	H	+	1	0	ZNF736	63446763	0.997000	0.39634	0.014000	0.15608	0.015000	0.08874	3.794000	0.55492	0.561000	0.29186	0.313000	0.20887	CAT	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF736	protein_coding	OTTHUMT00000344559.2	43	18	0	0.00	0	0	C	NM_001170905	0	0		63809328	1	no_errors	ENST00000355095	ensembl	human	known	74_37	missense	45	8	11.76	0.00	6	0	SNP	1	G	G	63809328	C	G	63809328	3	3	16	1	0	0	0	0	1	0	0	0	18122	826	29	5	1101	5	ZNF736	7	63809328	Missense_Mutation	SNP	C	TCGA-4V-A9QR-01A-11D-A423-09		63809328	95329335	4	171											
HSPA14	51182	genome.wustl.edu	37	chr10	14909169	14909169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttgagcttctcaattctAtccctcctgatgaagtgatc	8	15	7	11	0	2	4	1	4	2	0	6	4	4	4	2	0	1	2	2	0	3	4			TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr10:14909169A>G	ENST00000378372.3	+	11	1320	c.1081A>G	c.(1081-1083)Atc>Gtc	p.I361V		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	361					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TCTCAATTCTATCCCTCCTGA	0.418																																							0											0													112	113	113					10																	14909169		2203	4300	6503	SO:0001583	missense	0			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1081A>G	10.37:g.14909169A>G	ENSP00000367623:p.Ile361Val		A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.I361V	ENST00000378372.3	37	c.1081	CCDS7103.1	10	.	.	.	.	.	.	.	.	.	.	A	11.60	1.685587	0.29962	.	.	ENSG00000187522	ENST00000378372	T	0.00832	5.64	5.35	1.57	0.23409	.	0.284206	0.38605	N	0.001622	T	0.00754	0.0025	N	0.21448	0.665	0.18873	N	0.999985	P	0.35192	0.489	B	0.30179	0.112	T	0.52147	-0.8614	10	0.87932	D	0	-3.7532	6.8764	0.24149	0.7389:0.1263:0.1348:0.0	.	361	Q0VDF9	HSP7E_HUMAN	V	361	ENSP00000367623:I361V	ENSP00000367623:I361V	I	+	1	0	HSPA14	14949175	0.144000	0.22641	0.120000	0.21714	0.866000	0.49608	0.881000	0.28173	0.076000	0.16826	0.460000	0.39030	ATC	0	pfam_Hsp_70_fam,prints_Hsp_70_fam		0.418	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA14	protein_coding	OTTHUMT00000046910.1	45	235	0	0.00	0	0	A	NM_016299	0	0		14909169	1	no_errors	ENST00000378372	ensembl	human	known	74_37	missense	38	299	13.64	7.98	6	26	SNP	0.006	G	G	14909169	A	G	14909169	3	3	16	1	0	0	0	0	1	0	0	0	7407	449	16	3	1123	3	HSPA14	10	14909169	Missense_Mutation	SNP	A	TCGA-4V-A9QR-01A-11D-A423-09		14909169	120625578	5	172											
HTR7	3363	genome.wustl.edu	37	chr10	92508880	92508880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatggcagccagcacacGgtaaaggccccgacgatgat	15	4	11	11	3	0	1	0	1	0	0	0	3	0	1	3	3	2	3	3	3	4	1			TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr10:92508880G>A	ENST00000336152.3	-	2	1037	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	HTR7_ENST00000371719.2_Silent_p.T337T|HTR7_ENST00000277874.6_Silent_p.T337T|HTR7_ENST00000371721.3_Silent_p.T337T	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	337					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GCCAGCACACGGTAAAGGCCC	0.532																																							0											0													81	73	76					10																	92508880		2203	4300	6503	SO:0001819	synonymous_variant	0			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1011C>T	10.37:g.92508880G>A			B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.T337	ENST00000336152.3	37	c.1011	CCDS7408.1	10																																																																																			0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	protein_coding	OTTHUMT00000049343.1	75	114	0	0.00	0	0	G	NM_000872	0	0		92508880	-1	no_errors	ENST00000336152	ensembl	human	known	74_37	silent	63	181	9.86	7.65	7	15	SNP	0.009	A	A	92508880	G	A	92508880	2	1	16	1	0	0	0	0	0	0	0	1	7452	1103	39	2		2	HTR7	10	92508880	Silent	SNP	G	TCGA-4V-A9QR-01A-11D-A423-09	77599711	92508880	43025867	6	173											
TRPM5	29850	genome.wustl.edu	37	chr11	2438977	2438977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaccagcgccttcaggAtgaccgtgtccagctcctcg	6	10	9	16	3	2	1	2	1	0	0	5	2	4	2	5	1	2	1	5	1	0	2			TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr11:2438977A>G	ENST00000155858.6	-	7	997	c.989T>C	c.(988-990)aTc>aCc	p.I330T	TRPM5_ENST00000528453.1_Missense_Mutation_p.I330T|TRPM5_ENST00000452833.1_Missense_Mutation_p.I332T|TRPM5_ENST00000533060.1_Missense_Mutation_p.I330T	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)		CGCCTTCAGGATGACCGTGTC	0.632																																					NSCLC(1;49 61 17205 18850 43201)		0											0													31	29	30					11																	2438977		2196	4296	6492	SO:0001583	missense	0			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.989T>C	11.37:g.2438977A>G	ENSP00000155858:p.Ile330Thr			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.I332T	ENST00000155858.6	37	c.995	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266473	0.59540	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.05	2.91	0.33838	.	0.069433	0.56097	D	0.000029	T	0.76737	0.4029	M	0.84773	2.715	0.43652	D	0.99606	D;D;D	0.76494	0.999;0.999;0.984	D;D;D	0.71414	0.973;0.973;0.917	T	0.76107	-0.3080	10	0.87932	D	0	-20.3582	7.3539	0.26709	0.8964:0.0:0.1036:0.0	.	330;332;330	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	T	324;330;332;330;330;330	ENSP00000434383:I324T;ENSP00000155858:I330T;ENSP00000387965:I332T;ENSP00000434121:I330T;ENSP00000436809:I330T	ENSP00000155858:I330T	I	-	2	0	TRPM5	2395553	1.000000	0.71417	0.732000	0.30844	0.786000	0.44442	8.017000	0.88712	0.553000	0.29044	0.260000	0.18958	ATC	0	NULL		0.632	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	protein_coding	OTTHUMT00000027378.1	76	80	0	1.23	0	1	A	NM_014555	0	0		2438977	-1	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	60	71	11.76	18.39	8	16	SNP	1	G	G	2438977	A	G	2438977	3	3	16	1	0	0	0	0	1	0	0	0	16586	333	12	3	2580	3	TRPM5	11	2438977	Missense_Mutation	SNP	A	TCGA-4V-A9QR-01A-11D-A423-09		2438977	132567539	7	174											
KIF21A	55605	genome.wustl.edu	37	chr12	39731002	39731002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcatttgtttcattaggcGaacctaaccaattaggtata	12	16	6	7	1	2	0	2	0	0	0	2	1	2	0	2	2	2	2	2	2	7	8			TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr12:39731002G>A	ENST00000361418.5	-	17	2329	c.2314C>T	c.(2314-2316)Cgc>Tgc	p.R772C	KIF21A_ENST00000544797.2_Missense_Mutation_p.R759C|KIF21A_ENST00000541463.2_Missense_Mutation_p.R759C|KIF21A_ENST00000395670.3_Missense_Mutation_p.R772C|KIF21A_ENST00000361961.3_Missense_Mutation_p.R759C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	772					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)				TTCATTAGGCGAACCTAACCA	0.338																																							0											0													134	119	124					12																	39731002		2203	4298	6501	SO:0001583	missense	0			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.2314C>T	12.37:g.39731002G>A	ENSP00000354878:p.Arg772Cys		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.R772C	ENST00000361418.5	37	c.2314	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844139	0.71488	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.35	5.35	0.76521	.	0.124666	0.36932	N	0.002322	T	0.47967	0.1474	M	0.71581	2.175	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.938;0.992;0.943;0.931;0.978	T	0.48681	-0.9014	10	0.87932	D	0	.	18.0809	0.89441	0.0:0.0:1.0:0.0	.	759;759;772;759;772	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;.;KI21A_HUMAN;.;.	C	759;772;772;759;772;759	ENSP00000354851:R759C;ENSP00000379029:R772C;ENSP00000445606:R759C;ENSP00000354878:R772C;ENSP00000438075:R759C	ENSP00000344501:R772C	R	-	1	0	KIF21A	38017269	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.947000	0.49058	2.512000	0.84698	0.650000	0.86243	CGC	0	NULL		0.338	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	protein_coding	OTTHUMT00000403581.1	37	206	0	0.00	0	0	G	NM_017641	0	0		39731002	-1	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	39	337	11.36	10.37	5	39	SNP	1	A	A	39731002	G	A	39731002	3	1	16	1	0	0	0	0	1	0	0	0	8288	1058	37	2	2798	2	KIF21A	12	39731002	Missense_Mutation	SNP	G	TCGA-4V-A9QR-01A-11D-A423-09		39731002	94120893	8	175											
RLBP1	6017	genome.wustl.edu	37	chr15	89761830	89761830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggcagctggctgcacGggccaaagacaggtccatgg	8	4	18	11	2	0	1	0	0	0	1	1	1	1	1	2	7	2	4	2	7	1	0	rs200143313		TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr15:89761830G>A	ENST00000268125.5	-	4	546	c.107C>T	c.(106-108)cCg>cTg	p.P36L		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	36					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.P36L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CTGGCTGCACGGGCCAAAGAC	0.617																																							0											1	Substitution - Missense(1)	endometrium(1)						G	LEU/PRO	1,4399	2.1+/-5.4	0,1,2199	72	65	68		107	-11.9	0	15		68	0,8598		0,0,4299	yes	missense	RLBP1	NM_000326.4	98	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	36/318	89761830	1,12997	2200	4299	6499	SO:0001583	missense	0			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"retinaldehyde-binding protein 1"			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.107C>T	15.37:g.89761830G>A	ENSP00000268125:p.Pro36Leu		B2R667	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,prints_CRAL-bd_toc_tran,pfscan_CRAL-TRIO_dom	p.P36L	ENST00000268125.5	37	c.107	CCDS32324.1	15	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689811	0.29962	2.27E-4	0.0	ENSG00000140522	ENST00000268125	T	0.78595	-1.19	5.95	-11.9	0.00025	Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.639785	0.16616	N	0.206698	T	0.51770	0.1694	L	0.33485	1.01	0.21499	N	0.999662	B	0.18166	0.026	B	0.10450	0.005	T	0.41840	-0.9486	10	0.08599	T	0.76	-4.7835	8.5754	0.33595	0.0533:0.3578:0.0883:0.5007	.	36	P12271	RLBP1_HUMAN	L	36	ENSP00000268125:P36L	ENSP00000268125:P36L	P	-	2	0	RLBP1	87562834	0.000000	0.05858	0.001000	0.08648	0.874000	0.50279	-0.344000	0.07780	-2.784000	0.00359	-0.262000	0.10625	CCG	0	pfam_CRAL/TRIO_N_dom		0.617	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLBP1	protein_coding	OTTHUMT00000421135.1	46	123	0	0.81	0	1	G	NM_000326	rs200143313	G->A		89761830	-1	no_errors	ENST00000268125	ensembl	human	known	74_37	missense	16	127	23.81	21.60	5	35	SNP	0	A	A	89761830	G	A	89761830	3	1	16	1	0	0	0	0	1	0	0	0	13388	1116	39	2	870	2	RLBP1	15	89761830	Missense_Mutation	SNP	G	TCGA-4V-A9QR-01A-11D-A423-09		89761830	12769562	9	176											
WDR81	124997	genome.wustl.edu	37	chr17	1628569	1628569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgccggctggacgcgcgtgGaggtgcatgggctgcggaag	5	6	20	10	5	0	0	0	0	0	0	0	3	0	3	1	6	3	3	1	6	1	0			TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr17:1628569G>A	ENST00000409644.1	+	1	316	c.316G>A	c.(316-318)Gag>Aag	p.E106K	WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	106					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)		GACGCGCGTGGAGGTGCATGG	0.687																																							0											0													3	4	4					17																	1628569		655	1526	2181	SO:0001583	missense	0			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.316G>A	17.37:g.1628569G>A	ENSP00000386609:p.Glu106Lys		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.E106K	ENST00000409644.1	37	c.316	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725786	0.48833	.	.	ENSG00000167716	ENST00000409644	T	0.50548	0.74	5.92	4.95	0.65309	.	.	.	.	.	T	0.59376	0.2189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56968	-0.7891	6	0.44086	T	0.13	.	14.5145	0.67809	0.0697:0.0:0.9303:0.0	.	.	.	.	K	106	ENSP00000386609:E106K	ENSP00000386609:E106K	E	+	1	0	WDR81	1575319	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.923000	0.63412	2.800000	0.96347	0.650000	0.86243	GAG	0	NULL		0.687	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	protein_coding	OTTHUMT00000333118.2	41	65	0	0.00	0	0	G	NM_152348	0	0		1628569	1	no_errors	ENST00000409644	ensembl	human	known	74_37	missense	27	70	15.15	7.89	5	6	SNP	1	A	A	1628569	G	A	1628569	3	1	16	1	0	0	0	0	1	0	0	0	17327	1175	41	3	380	3	WDR81	17	1628569	Missense_Mutation	SNP	G	TCGA-4V-A9QR-01A-11D-A423-09		1628569	79566641	10	177											
SLC25A11	8402	genome.wustl.edu	37	chr17	4843135	4843135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggcccccaaacaggaacTtgacggacttaggggaggta	12	5	13	11	1	0	1	0	1	0	0	0	4	0	4	3	6	2	1	3	6	4	3			TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr17:4843135T>C	ENST00000225665.7	-	1	411	c.71A>G	c.(70-72)aAg>aGg	p.K24R	SLC25A11_ENST00000544061.2_Missense_Mutation_p.K24R|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000262482.6_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	24					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AAACAGGAACTTGACGGACTT	0.672																																					Esophageal Squamous(144;1178 2388 18010 48797)		0											0													20	22	21					17																	4843135		2202	4299	6501	SO:0001583	missense	0			X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"Solute carriers"	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.71A>G	17.37:g.4843135T>C	ENSP00000225665:p.Lys24Arg		F5GY65|O75537|Q969P7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.K24R	ENST00000225665.7	37	c.71	CCDS11059.1	17	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710655	0.68730	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	T;T	0.79141	-1.24;-1.2	5.34	5.34	0.76211	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	L	0.48986	1.54	0.50632	D	0.999887	B	0.17038	0.02	B	0.20384	0.029	T	0.68969	-0.5269	10	0.40728	T	0.16	-22.9389	13.3116	0.60384	0.0:0.0:0.0:1.0	.	24	Q02978	M2OM_HUMAN	R	24	ENSP00000225665:K24R;ENSP00000440804:K24R	ENSP00000225665:K24R	K	-	2	0	SLC25A11	4783880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.619000	0.54196	2.240000	0.73641	0.477000	0.44152	AAG	0	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.672	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A11	protein_coding	OTTHUMT00000216852.4	137	166	0	0.00	0	0	T	NM_003562	0	0		4843135	-1	no_errors	ENST00000225665	ensembl	human	known	74_37	missense	95	153	11.93	14.04	13	25	SNP	1	C	C	4843135	T	C	4843135	3	2	16	1	0	0	0	0	1	0	0	0	14473	1609	56	4	905	4	SLC25A11	17	4843135	Missense_Mutation	SNP	T	TCGA-4V-A9QR-01A-11D-A423-09	3214566	4843135	76352075	11	178											
CLIP3	25999	genome.wustl.edu	37	chr19	36517116	36517116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcacaggctggaagcaGcgatgtgcagggctgagccg	9	4	17	11	2	0	1	0	1	0	0	0	3	0	2	2	4	4	5	2	4	1	0			TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr19:36517116G>T	ENST00000360535.4	-	6	841	c.614C>A	c.(613-615)gCt>gAt	p.A205D	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.A205D	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	205					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTGGAAGCAGCGATGTGCAG	0.647																																							0											0													59	54	56					19																	36517116		2203	4300	6503	SO:0001583	missense	0			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.614C>A	19.37:g.36517116G>T	ENSP00000353732:p.Ala205Asp		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.A205D	ENST00000360535.4	37	c.614	CCDS12486.1	19	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193676	0.78902	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.81163	-1.46	4.85	4.85	0.62838	Ankyrin repeat-containing domain (4);	0.109898	0.64402	D	0.000011	D	0.93019	0.7778	H	0.97103	3.94	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95066	0.8200	10	0.87932	D	0	-7.9339	15.5007	0.75698	0.0:0.0:1.0:0.0	.	205	Q96DZ5	CLIP3_HUMAN	D	205;87;181	ENSP00000353732:A205D	ENSP00000353732:A205D	A	-	2	0	CLIP3	41208956	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	9.314000	0.96306	2.516000	0.84829	0.555000	0.69702	GCT	0	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.647	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	protein_coding	OTTHUMT00000457426.1	44	39	0	0.00	0	0	G	NM_015526	0	0		36517116	-1	no_errors	ENST00000360535	ensembl	human	known	74_37	missense	25	42	19.35	8.70	6	4	SNP	1	T	T	36517116	G	T	36517116	3	4	16	1	0	0	0	0	1	0	0	0	3534	971	34	5	1065	5	CLIP3	19	36517116	Missense_Mutation	SNP	G	TCGA-4V-A9QR-01A-11D-A423-09		36517116	22611867	12	179											
NLRP5	126206	genome.wustl.edu	37	chr19	56565026	56565026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaagtgtcatctcaccGccgcgtgctgtgagagtctg	7	11	13	10	3	3	1	2	1	2	1	4	2	3	1	2	1	1	2	2	1	2	1	rs374153940	byFrequency	TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chr19:56565026G>A	ENST00000390649.3	+	13	3151	c.3151G>A	c.(3151-3153)Gcc>Acc	p.A1051T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1051					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)		TCATCTCACCGCCGCGTGCTG	0.567													G|||	2	0.000399361	0.0015	0	5008	,	,		17707	0		0	False		,,,				2504	0						0.9996,0.0003994											0								G	THR/ALA	3,4075		0,3,2036	67	65	65		3151	1.4	0	19		65	0,8386		0,0,4193	no	missense	NLRP5	NM_153447.4	58	0,3,6229	AA,AG,GG		0.0,0.0736,0.0241	probably-damaging	1051/1201	56565026	3,12461	2039	4193	6232	SO:0001583	missense	0			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.3151G>A	19.37:g.56565026G>A	ENSP00000375063:p.Ala1051Thr		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.A1051T	ENST00000390649.3	37	c.3151	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357332	0.41801	7.36E-4	0.0	ENSG00000171487	ENST00000390649	T	0.13657	2.57	3.65	1.37	0.22104	.	0.945783	0.08591	N	0.923113	T	0.11067	0.0270	M	0.62016	1.91	0.09310	N	1	P	0.38335	0.627	B	0.28232	0.087	T	0.30909	-0.9962	10	0.16896	T	0.51	.	6.0035	0.19533	0.0:0.1983:0.5653:0.2364	.	1051	P59047	NALP5_HUMAN	T	1051	ENSP00000375063:A1051T	ENSP00000375063:A1051T	A	+	1	0	NLRP5	61256838	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.058000	0.14301	0.450000	0.26774	0.655000	0.94253	GCC	0	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.567	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	protein_coding	OTTHUMT00000313735.1	42	134	0	0.00	0	0	G	NM_153447	rs374153940	G->A		56565026	1	no_errors	ENST00000390649	ensembl	human	known	74_37	missense	24	119	17.24	13.67	5	19	SNP	0	A	A	56565026	G	A	56565026	3	1	16	1	0	0	0	0	1	0	0	0	10480	1087	38	1	3201	1	NLRP5	19	56565026	Missense_Mutation	SNP	G	TCGA-4V-A9QR-01A-11D-A423-09	20047910	56565026	2563957	13	180											
CXorf23	256643	genome.wustl.edu	37	chrX	19983216	19983216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taactgtaagtgatttcttcCtaagattgataggcgagggt	11	14	11	5	1	1	3	0	2	1	1	2	4	2	3	1	2	1	1	1	2	4	7			TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chrX:19983216C>G	ENST00000379682.4	-	3	1253	c.1220G>C	c.(1219-1221)aGg>aCg	p.R407T	CXorf23_ENST00000356980.3_Missense_Mutation_p.R407T|CXorf23_ENST00000379687.3_Missense_Mutation_p.R407T			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	407						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TGATTTCTTCCTAAGATTGAT	0.313																																							0											0													87	77	80					X																	19983216		1815	4071	5886	SO:0001583	missense	0			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1220G>C	X.37:g.19983216C>G	ENSP00000369004:p.Arg407Thr		A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	NULL	p.R407T	ENST00000379682.4	37	c.1220		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.70|10.70	1.423099|1.423099	0.25639|0.25639	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038|ENST00000340625	T;T;T|.	0.17691|.	2.26;2.26;2.26|.	5.15|5.15	-3.27|-3.27	0.05048|0.05048	.|.	.|.	.|.	.|.	.|.	T|.	0.16642|.	0.0400|.	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;P|.	0.37276|.	0.435;0.589|.	B;B|.	0.32864|.	0.117;0.154|.	T|.	0.25641|.	-1.0126|.	8|.	.|.	.|.	.|.	.|.	4.5518|4.5518	0.12116|0.12116	0.0937:0.3208:0.0914:0.4941|0.0937:0.3208:0.0914:0.4941	.|.	407;407|.	A2AJT9-2;A2AJT9|.	.;CX023_HUMAN|.	T|Y	407;407;407;295|15	ENSP00000369009:R407T;ENSP00000369004:R407T;ENSP00000349470:R407T|.	.|.	R|X	-|-	2|3	0|2	CXorf23|CXorf23	19893137|19893137	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.958000|0.958000	0.62258|0.62258	-1.089000|-1.089000	0.03376|0.03376	-0.905000|-0.905000	0.03871|0.03871	0.466000|0.466000	0.42574|0.42574	AGG|TAG	0	NULL		0.313	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	protein_coding	OTTHUMT00000055991.2	140	274	0	0.00	0	0	C	NM_198279	0	0		19983216	-1	no_errors	ENST00000379687	ensembl	human	known	74_37	missense	134	504	16.25	15.41	26	92	SNP	0	G	G	19983216	C	G	19983216	3	3	16	1	0	0	0	0	1	0	0	0	4103	681	24	5	864	5	CXorf23	23	19983216	Missense_Mutation	SNP	C	TCGA-4V-A9QR-01A-11D-A423-09		19983216	135287344	14	181											
CXorf38	159013	genome.wustl.edu	37	chrX	40506570	40506570	+	Frame_Shift_Del	DEL	G	G	-																															tgctcacctggcgggcgcgaGggctgcaccgtgagccgccg																										TCGA-4V-A9QR-01A-11D-A423-09	TCGA-4V-A9QR-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	709cab9b-5e13-4d15-bbc6-f447d5d2e3ee	190d2d1b-cc59-4117-9b23-f3d5090c8f9a	g.chrX:40506570delG	ENST00000327877.5	-	1	229	c.203delC	c.(202-204)cctfs	p.P68fs	CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Frame_Shift_Del_p.P68fs|CXorf38_ENST00000378418.2_Frame_Shift_Del_p.P68fs	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	68										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GCGGGCGCGAGGGCTGCACCG	0.751																																							0											0													2	3	3					X																	40506570		1314	2744	4058	SO:0001589	frameshift_variant	0			AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.203delC	X.37:g.40506570delG	ENSP00000330488:p.Pro68fs		B3KW28|D3DWB5|Q5JPF5|Q8N941	Frame_Shift_Del	DEL	NULL	p.P68fs	ENST00000327877.5	37	c.203	CCDS14253.1	X																																																																																			0	NULL		0.751	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf38	protein_coding	OTTHUMT00000060685.3	13	3	0	0.00	0	0	G	NM_144970	0	0		40506570	-1	no_errors	ENST00000327877	ensembl	human	known	74_37	frame_shift_del	4	6	33.33	0.00	2	0	DEL	0.997	0	-	40506570	G	-	40506570	7	5	16	1	0	1	0	1	0	0	0	0	4107	1000	35	0	780	0	CXorf38	23	40506570	Frame_Shift_Del	DEL	G	TCGA-4V-A9QR-01A-11D-A423-09	20523354	40506570	114763990	15	182											
UHMK1	127933	genome.wustl.edu	37	chr1	162469895	162469895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatacagcattgtgcccGagatgttttggaggcccttg	8	12	13	8	1	0	2	0	1	0	1	0	5	0	3	2	2	3	2	2	2	1	5			TCGA-4V-A9QS-01A-11D-A423-09	TCGA-4V-A9QS-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2a777225-39dc-48da-b630-ae004006f6db	17622cfb-dcdf-43b3-b287-3beaca4b2980	g.chr1:162469895G>T	ENST00000489294.1	+	2	577	c.419G>T	c.(418-420)cGa>cTa	p.R140L	UHMK1_ENST00000538489.1_Missense_Mutation_p.R140L|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Missense_Mutation_p.R66L	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, 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)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CATTGTGCCCGAGATGTTTTG	0.463																																							0											0													190	164	173					1																	162469895		2203	4300	6503	SO:0001583	missense	0			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.419G>T	1.37:g.162469895G>T	ENSP00000420270:p.Arg140Leu		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.R140L	ENST00000489294.1	37	c.419	CCDS1239.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884024	0.91814	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.19669	2.13;2.13;2.13	5.53	5.53	0.82687	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	0.18383	0.0441	N	0.17901	0.54	.	.	.	D;D;D	0.69078	0.996;0.997;0.996	D;D;D	0.79784	0.988;0.993;0.988	T	0.05370	-1.0889	9	0.12430	T	0.62	-8.3027	16.5466	0.84448	0.0:0.0:1.0:0.0	.	140;140;66	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	L	66;140;140	ENSP00000441226:R66L;ENSP00000446416:R140L;ENSP00000420270:R140L	ENSP00000420270:R140L	R	+	2	0	UHMK1	160736519	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.887000	0.92456	2.749000	0.94314	0.655000	0.94253	CGA	0	pfam_Prot_kinase_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	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	protein_coding	OTTHUMT00000076788.1	80	313	0	0.00	0	0	G	NM_175866	0	0		162469895	1	no_errors	ENST00000489294	ensembl	human	known	74_37	missense	64	275	18.99	15.12	15	49	SNP	1	T	T	162469895	G	T	162469895	3	4	17	1	0	0	0	0	1	0	0	0	16963	1058	37	5	475	5	UHMK1	1	162469895	Missense_Mutation	SNP	G	TCGA-4V-A9QS-01A-11D-A423-09		162469895	86780726	1	183											
ANGPTL1	9068	genome.wustl.edu	37	chr1	178821913	178821913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctggtaagttcccaggCgcagtctatagaattcactt	9	13	8	11	1	2	1	1	0	1	1	4	1	4	1	2	2	0	3	2	2	4	7	rs570797031		TCGA-4V-A9QS-01A-11D-A423-09	TCGA-4V-A9QS-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2a777225-39dc-48da-b630-ae004006f6db	17622cfb-dcdf-43b3-b287-3beaca4b2980	g.chr1:178821913C>A	ENST00000234816.2	-	5	1640	c.1193G>T	c.(1192-1194)cGc>cTc	p.R398L	RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.R398L|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	398	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						AGTTCCCAGGCGCAGTCTATA	0.398																																							0											0													124	123	123					1																	178821913		2203	4300	6503	SO:0001583	missense	0			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1193G>T	1.37:g.178821913C>A	ENSP00000234816:p.Arg398Leu		Q5T5Z5	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.R398L	ENST00000234816.2	37	c.1193	CCDS1327.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.405698	0.96051	.	.	ENSG00000116194	ENST00000234816;ENST00000367629	T;T	0.76968	-1.06;-1.06	5.67	5.67	0.87782	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	0.87297	0.6142	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85251	0.1044	10	0.36615	T	0.2	.	19.3618	0.94442	0.0:1.0:0.0:0.0	.	398	O95841	ANGL1_HUMAN	L	398	ENSP00000234816:R398L;ENSP00000356601:R398L	ENSP00000234816:R398L	R	-	2	0	ANGPTL1	177088536	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.818000	0.86416	2.660000	0.90430	0.650000	0.86243	CGC	0	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.398	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	protein_coding	OTTHUMT00000084924.1	53	379	0	0.52	0	2	C	NM_004673	0	0		178821913	-1	no_errors	ENST00000234816	ensembl	human	known	74_37	missense	67	311	16.25	5.47	13	18	SNP	1	A	A	178821913	C	A	178821913	3	1	17	1	0	0	0	0	1	0	0	0	613	768	27	5	290	5	ANGPTL1	1	178821913	Missense_Mutation	SNP	C	TCGA-4V-A9QS-01A-11D-A423-09	16352018	178821913	70428708	2	184											
CD46	4179	genome.wustl.edu	37	chr1	207941138	207941138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtgtcgacttcttccActacaaaatctccagcgtcc	9	12	5	15	2	2	0	0	0	2	0	7	1	5	0	4	0	2	0	4	0	3	4			TCGA-4V-A9QS-01A-11D-A423-09	TCGA-4V-A9QS-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2a777225-39dc-48da-b630-ae004006f6db	17622cfb-dcdf-43b3-b287-3beaca4b2980	g.chr1:207941138A>G	ENST00000358170.2	+	8	1072	c.916A>G	c.(916-918)Act>Gct	p.T306A	CD46_ENST00000361067.1_Missense_Mutation_p.T306A|CD46_ENST00000441839.2_Missense_Mutation_p.T291A|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000357714.1_Intron|CD46_ENST00000322875.4_Missense_Mutation_p.T306A|CD46_ENST00000367041.1_Intron|CD46_ENST00000367042.1_Missense_Mutation_p.T291A|CD46_ENST00000480003.1_Missense_Mutation_p.T291A|CD46_ENST00000354848.1_Missense_Mutation_p.T291A|CD46_ENST00000367047.1_Missense_Mutation_p.T243A|CD46_ENST00000322918.5_Intron|CD46_ENST00000360212.2_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	306	Ser/Thr-rich.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GACTTCTTCCACTACAAAATC	0.348																																							0											0													113	114	114					1																	207941138		2203	4300	6503	SO:0001583	missense	0			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.916A>G	1.37:g.207941138A>G	ENSP00000350893:p.Thr306Ala		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.T306A	ENST00000358170.2	37	c.916	CCDS1485.1	1	.	.	.	.	.	.	.	.	.	.	A	8.657	0.899619	0.17686	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000367042;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000480003	T;T;T;T;T;T;T;T	0.44083	1.29;1.3;1.22;1.3;1.25;1.23;0.93;0.93	4.1	2.94	0.34122	.	.	.	.	.	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.28850	0.225;0.225;0.225;0.225;0.225;0.225;0.225;0.225;0.144	B;B;B;B;B;B;B;B;B	0.33042	0.157;0.11;0.157;0.11;0.157;0.11;0.157;0.11;0.051	T	0.25433	-1.0132	9	0.21540	T	0.41	.	6.7974	0.23732	0.7926:0.0:0.0:0.2074	.	306;291;291;306;306;291;291;291;306	P15529-5;P15529-14;P15529-3;P15529-13;P15529-2;P15529-11;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;MCP_HUMAN	A	306;291;291;306;243;291;306;291	ENSP00000350893:T306A;ENSP00000346912:T291A;ENSP00000356009:T291A;ENSP00000313875:T306A;ENSP00000356014:T243A;ENSP00000413543:T291A;ENSP00000354358:T306A;ENSP00000418471:T291A	ENSP00000313875:T306A	T	+	1	0	CD46	206007761	0.005000	0.15991	0.122000	0.21767	0.017000	0.09413	0.979000	0.29500	0.858000	0.35431	0.533000	0.62120	ACT	0	pirsf_M_CF_CD46		0.348	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	protein_coding	OTTHUMT00000088588.3	82	451	1.2	0.00	1	0	A	NM_172361	0	0		207941138	1	no_errors	ENST00000322875	ensembl	human	known	74_37	missense	88	440	7.37	5.17	7	24	SNP	0.182	G	G	207941138	A	G	207941138	3	3	17	1	0	0	0	0	1	0	0	0	3018	159	6	3	946	3	CD46	1	207941138	Missense_Mutation	SNP	A	TCGA-4V-A9QS-01A-11D-A423-09	29119225	207941138	41309483	3	185											
OR2T1	26696	genome.wustl.edu	37	chr1	248569756	248569756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagctcaacacttcctctAccttacccttgtgggagctg	8	11	7	15	0	2	0	1	0	1	0	3	1	3	1	3	1	5	2	3	1	3	4			TCGA-4V-A9QS-01A-11D-A423-09	TCGA-4V-A9QS-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2a777225-39dc-48da-b630-ae004006f6db	17622cfb-dcdf-43b3-b287-3beaca4b2980	g.chr1:248569756A>G	ENST00000366474.1	+	1	461	c.461A>G	c.(460-462)tAc>tGc	p.Y154C		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, 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(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)			CACTTCCTCTACCTTACCCTT	0.488																																							0											0													163	158	159					1																	248569756		2203	4300	6503	SO:0001583	missense	0			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.461A>G	1.37:g.248569756A>G	ENSP00000355430:p.Tyr154Cys		Q6IEZ9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y154C	ENST00000366474.1	37	c.461	CCDS31115.1	1	.	.	.	.	.	.	.	.	.	.	a	15.01	2.705929	0.48412	.	.	ENSG00000175143	ENST00000366474	T	0.00542	6.69	4.75	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33553	U	0.004799	T	0.00580	0.0019	L	0.35249	1.045	0.26552	N	0.973886	P	0.41475	0.751	B	0.42738	0.396	T	0.54820	-0.8236	10	0.62326	D	0.03	.	10.0014	0.41931	0.8492:0.0:0.0:0.1508	.	154	O43869	OR2T1_HUMAN	C	154	ENSP00000355430:Y154C	ENSP00000355430:Y154C	Y	+	2	0	OR2T1	246636379	0.117000	0.22190	0.908000	0.35775	0.909000	0.53808	2.248000	0.43160	1.993000	0.58246	0.528000	0.53228	TAC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.488	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T1	protein_coding	OTTHUMT00000097346.2	40	254	0	0.39	0	1	A		0	0		248569756	1	no_errors	ENST00000366474	ensembl	human	known	74_37	missense	50	193	24.24	22.18	16	55	SNP	0.475	G	G	248569756	A	G	248569756	3	3	17	1	0	0	0	0	1	0	0	0	11016	391	14	3	463	3	OR2T1	1	248569756	Missense_Mutation	SNP	A	TCGA-4V-A9QS-01A-11D-A423-09	40628618	248569756	680865	4	186											
MTX3	345778	genome.wustl.edu	37	chr5	79284999	79284999	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggagaagcttctcttcGaggagagcaatataagccaa	14	7	12	8	1	1	2	0	0	1	2	3	5	1	2	1	2	3	3	1	2	5	4			TCGA-4V-A9QS-01A-11D-A423-09	TCGA-4V-A9QS-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2a777225-39dc-48da-b630-ae004006f6db	17622cfb-dcdf-43b3-b287-3beaca4b2980	g.chr5:79284999G>T	ENST00000512528.1	-	4	317	c.297C>A	c.(295-297)ctC>ctA	p.L99L	MTX3_ENST00000512560.1_Silent_p.L38L|MTX3_ENST00000509852.1_Silent_p.L99L			Q5HYI7	MTX3_HUMAN	metaxin 3	99					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GCTTCTCTTCGAGGAGAGCAA	0.338																																							0											0													56	54	54					5																	79284999		1831	4091	5922	SO:0001819	synonymous_variant	0			BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.297C>A	5.37:g.79284999G>T			B4DL65|E9PB57|Q7Z380|Q8NB92	Silent	SNP	pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like,pirsf_Metaxin	p.L99	ENST00000512528.1	37	c.297		5																																																																																			0	pfam_Sam37/metaxin,pirsf_Metaxin		0.338	MTX3-005	KNOWN	basic|appris_principal	protein_coding	MTX3	protein_coding	OTTHUMT00000372567.1	170	241	0	0.82	0	2	G	XM_293971	0	0		79284999	-1	no_errors	ENST00000512528	ensembl	human	known	74_37	silent	147	244	9.26	7.55	15	20	SNP	0.004	T	T	79284999	G	T	79284999	2	4	17	1	0	0	0	0	0	0	0	1	9969	1045	37	5		5	MTX3	5	79284999	Silent	SNP	G	TCGA-4V-A9QS-01A-11D-A423-09		79284999	101630261	5	187											
CFDP1	10428	genome.wustl.edu	37	chr16	75428996	75428996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatactcaccctgacccGgcagggagtgatggcagagc	11	6	12	12	1	2	3	2	2	0	1	2	4	2	4	2	3	2	2	2	3	2	1	rs371488344		TCGA-4V-A9QS-01A-11D-A423-09	TCGA-4V-A9QS-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2a777225-39dc-48da-b630-ae004006f6db	17622cfb-dcdf-43b3-b287-3beaca4b2980	g.chr16:75428996G>A	ENST00000283882.3	-	5	774	c.642C>T	c.(640-642)gcC>gcT	p.A214A		NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	214	Hydrophilic.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						ACCCTGACCCGGCAGGGAGTG	0.473													G|||	1	0.000199681	0	0	5008	,	,		18446	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0								G		0,4396		0,0,2198	118	113	115		642	-8.1	0.5	16		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CFDP1	NM_006324.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		214/300	75428996	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"Bucentaur", "centromere protein 29"	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.642C>T	16.37:g.75428996G>A			O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Silent	SNP	pfam_BCNT-C	p.A214	ENST00000283882.3	37	c.642	CCDS10916.1	16																																																																																			0	NULL		0.473	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFDP1	protein_coding	OTTHUMT00000269031.2	65	259	0	0.00	0	0	G	NM_006324	rs371488344	G->A		75428996	-1	no_errors	ENST00000283882	ensembl	human	known	74_37	silent	52	180	7.14	5.26	4	10	SNP	0.722	A	A	75428996	G	A	75428996	2	1	17	1	0	0	0	0	0	0	0	1	3282	1103	39	2		2	CFDP1	16	75428996	Silent	SNP	G	TCGA-4V-A9QS-01A-11D-A423-09		75428996	14925757	6	188											
SYN3	8224	genome.wustl.edu	37	chr22	32923933	32923933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgggcgtggctggggctgGcctagctgaggccccagctg	3	7	20	11	1	0	1	0	1	0	0	0	1	0	1	3	7	2	4	3	7	1	1			TCGA-4V-A9QS-01A-11D-A423-09	TCGA-4V-A9QS-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2a777225-39dc-48da-b630-ae004006f6db	17622cfb-dcdf-43b3-b287-3beaca4b2980	g.chr22:32923933G>A	ENST00000358763.2	-	12	1532	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G	SYN3_ENST00000332840.5_Silent_p.G430G	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	430	J; Pro-rich linker.				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)			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						GCTGGGGCTGGCCTAGCTGAG	0.577																																							0											0													26	24	25					22																	32923933		2202	4298	6500	SO:0001819	synonymous_variant	0			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.1290C>T	22.37:g.32923933G>A			B1B1F9	Silent	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.G430	ENST00000358763.2	37	c.1290	CCDS13908.1	22																																																																																			0	NULL		0.577	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	protein_coding	OTTHUMT00000075892.4	77	73	0	0.00	0	0	G		0	0		32923933	-1	no_errors	ENST00000332840	ensembl	human	known	74_37	silent	62	70	7.35	4.11	5	3	SNP	1	A	A	32923933	G	A	32923933	2	1	17	1	0	0	0	0	0	0	0	1	15439	1190	42	3		3	SYN3	22	32923933	Silent	SNP	G	TCGA-4V-A9QS-01A-11D-A423-09		32923933	18380633	7	189											
ANKRD36	375248	genome.wustl.edu	37	chr2	97830036	97830036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgtctcctgagcaaccGcctttattcacggtaaacat	10	12	8	11	2	2	1	1	1	1	0	3	1	2	1	3	1	3	3	3	1	5	5	rs202135818		TCGA-4V-A9QT-01A-11D-A423-09	TCGA-4V-A9QT-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2634e39-99e9-4922-9887-b6339973887e	04c8a313-a212-4711-bf41-f0001686e75d	g.chr2:97830036G>A	ENST00000461153.2	+	19	1690	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	ANKRD36_ENST00000420699.2_Silent_p.P482P			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	482										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGAGCAACCGCCTTTATTCA	0.348																																							0											0													15	11	13					2																	97830036		688	1575	2263	SO:0001819	synonymous_variant	0			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.1446G>A	2.37:g.97830036G>A			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.P482	ENST00000461153.2	37	c.1446	CCDS54379.1	2																																																																																			0	NULL		0.348	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	protein_coding	OTTHUMT00000339154.5	68	114	1.45	0.86	1	1	G		rs202135818	G->A		97830036	1	no_errors	ENST00000420699	ensembl	human	known	74_37	silent	102	110	7.27	4.31	8	5	SNP	0	A	A	97830036	G	A	97830036	2	1	18	1	0	0	0	0	0	0	0	1	665	1074	38	1		1	ANKRD36	2	97830036	Silent	SNP	G	TCGA-4V-A9QT-01A-11D-A423-09		97830036	145369337	1	190											
GPR125	166647	genome.wustl.edu	37	chr4	22517362	22517362	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacagcgagagcggcagcaAcagcggcggctgcgcgcggc	9	2	17	13	7	0	1	0	0	0	1	0	2	0	1	0	4	7	3	0	4	2	1			TCGA-4V-A9QT-01A-11D-A423-09	TCGA-4V-A9QT-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f2634e39-99e9-4922-9887-b6339973887e	04c8a313-a212-4711-bf41-f0001686e75d	g.chr4:22517362A>G	ENST00000334304.5	-	1	315	c.46T>C	c.(46-48)Ttg>Ctg	p.L16L	GPR125_ENST00000502482.1_Silent_p.L16L	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	16					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)				AGCGGCAGCAACAgcggcggc	0.826																																							0											0																																										SO:0001819	synonymous_variant	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.46T>C	4.37:g.22517362A>G			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.L16	ENST00000334304.5	37	c.46	CCDS33964.1	4																																																																																			0	NULL		0.826	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	protein_coding	OTTHUMT00000362960.3	8	4	0	0.00	0	0	A		0	0		22517362	-1	no_errors	ENST00000334304	ensembl	human	known	74_37	silent	22	3	15.38	0.00	4	0	SNP	0.99	G	G	22517362	A	G	22517362	2	3	18	1	0	0	0	0	0	0	0	1	6639	40	2	3		3	GPR125	4	22517362	Silent	SNP	A	TCGA-4V-A9QT-01A-11D-A423-09		22517362	168636914	2	191											
SCUBE3	222663	genome.wustl.edu	37	chr6	35199578	35199578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcagctatgagtgccaCtgccgggaaggcttcttcct	7	10	13	11	1	1	1	0	1	1	0	2	2	2	2	3	3	3	3	3	3	2	3			TCGA-4V-A9QT-01A-11D-A423-09	TCGA-4V-A9QT-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f2634e39-99e9-4922-9887-b6339973887e	04c8a313-a212-4711-bf41-f0001686e75d	g.chr6:35199578C>T	ENST00000274938.7	+	4	411	c.411C>T	c.(409-411)caC>caT	p.H137H	SCUBE3_ENST00000394681.1_Silent_p.H137H	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						ATGAGTGCCACTGCCGGGAAG	0.607																																							0											0													108	84	92					6																	35199578		2203	4300	6503	SO:0001819	synonymous_variant	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.411C>T	6.37:g.35199578C>T				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,prints_Thrombomodulin	p.H137	ENST00000274938.7	37	c.411	CCDS4800.1	6																																																																																			0	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.607	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	protein_coding	OTTHUMT00000040275.1	40	70	0	1.41	0	1	C	NM_152753	0	0		35199578	1	no_errors	ENST00000394681	ensembl	human	known	74_37	silent	40	59	9.09	4.84	4	3	SNP	1	T	T	35199578	C	T	35199578	2	4	18	1	0	0	0	0	0	0	0	1	13946	564	20	3		3	SCUBE3	6	35199578	Silent	SNP	C	TCGA-4V-A9QT-01A-11D-A423-09		35199578	135915489	3	192											
CAPNS1	826	genome.wustl.edu	37	chr19	36632025	36632027	+	In_Frame_Del	DEL	GGC	GGC	-																															gcctgatcagcggggccgggGgcggcggcggcggcggcggc																										TCGA-4V-A9QT-01A-11D-A423-09	TCGA-4V-A9QT-10A-01D-A426-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f2634e39-99e9-4922-9887-b6339973887e	04c8a313-a212-4711-bf41-f0001686e75d	g.chr19:36632025_36632027delGGC	ENST00000246533.3	+	2	710_712	c.112_114delGGC	c.(112-114)ggcdel	p.G56del	CAPNS1_ENST00000590874.1_In_Frame_Del_p.G56del|CAPNS1_ENST00000588815.1_In_Frame_Del_p.G56del|CAPNS1_ENST00000587718.1_In_Frame_Del_p.G56del|CAPNS1_ENST00000589146.1_Intron|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_In_Frame_Del_p.G56del	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	56	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)			CGGGGCcgggggcggcggcggcg	0.754																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)		0											0									,	2,68		1,0,34					,	-10.1	0			1	22,420		9,4,208	no	coding,coding	CAPNS1	NM_001749.2,NM_001003962.1	,	10,4,242	A1A1,A1R,RR		4.9774,2.8571,4.6875	,	,		24,488				SO:0001651	inframe_deletion	0			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.112_114delGGC	19.37:g.36632034_36632036delGGC	ENSP00000246533:p.Gly56del		A8K0P1|Q8WTX3|Q96EW0	In_Frame_Del	DEL	pfscan_EF_hand_dom	p.G41in_frame_del	ENST00000246533.3	37	c.112_114	CCDS12489.1	19																																																																																			0	NULL		0.754	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	protein_coding	OTTHUMT00000457411.2	31	2	0	0.00	0	0	GGC		0	0		36632027	1	no_errors	ENST00000588780	ensembl	human	known	74_37	in_frame_del	37	5	11.9	0.00	5	0	DEL	0.907:0.986:0.987	0	-	36632027	GGC	-	36632025	7	5	18	1	0	1	0	1	0	0	0	0	2633	1232	43	0	114	0	CAPNS1	19	36632025	In_Frame_Del	DEL	GGC	TCGA-4V-A9QT-01A-11D-A423-09		36632025	22496958	4	193											
RUNX3	864	genome.wustl.edu	37	chr1	25256279	25256281	+	In_Frame_Del	DEL	GCC	GCC	-																															ccgctgttctcgcccatcttGccgccgccgccgccgcaggg																										TCGA-4V-A9QU-01A-11D-A423-09	TCGA-4V-A9QU-10A-01D-A426-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9e531d5-78eb-488b-a859-3e491dfd66c4	241c8049-d164-4789-8149-ad2484ccd18b	g.chr1:25256279_25256281delGCC	ENST00000308873.6	-	1	87_89	c.79_81delGGC	c.(79-81)ggcdel	p.G27del	RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000540420.1_5'Flank|RUNX3_ENST00000338888.3_In_Frame_Del_p.G41del|RUNX3_ENST00000399916.1_In_Frame_Del_p.G41del	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	27	Poly-Gly.				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)		CGCCCATCTTGCCGCCGCCGCCG	0.759																																							0											0									,	5,1285		1,3,641					,	2.5	1			2	10,3078		1,8,1535	no	coding,coding	RUNX3	NM_004350.2,NM_001031680.2	,	2,11,2176	A1A1,A1R,RR		0.3238,0.3876,0.3426	,	,		15,4363				SO:0001651	inframe_deletion	0			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.79_81delGGC	1.37:g.25256288_25256290delGCC	ENSP00000308051:p.Gly27del		B1AJV5|Q12969|Q13760	In_Frame_Del	DEL	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.G41in_frame_del	ENST00000308873.6	37	c.123_121	CCDS257.1	1																																																																																			0	pirsf_TF_Runt-rel_RUNX		0.759	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RUNX3	protein_coding	OTTHUMT00000009284.1	18	7	0	0.00	0	0	GCC	NM_004350	0	0		25256281	-1	no_errors	ENST00000338888	ensembl	human	known	74_37	in_frame_del	10	6	23.08	0.00	3	0	DEL	0.986:0.973:0.995	0	-	25256281	GCC	-	25256279	7	5	19	1	0	1	0	1	0	0	0	0	13749	1306	46	0	1186	0	RUNX3	1	25256279	In_Frame_Del	DEL	GCC	TCGA-4V-A9QU-01A-11D-A423-09		25256279	223994342	1	194											
HLX	3142	genome.wustl.edu	37	chr1	221054597	221054597	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctctcaggcctgcagccCtcggccggccagttcttcgc	4	8	10	19	3	2	0	1	0	2	0	5	0	2	0	5	3	2	2	5	3	0	2			TCGA-4V-A9QU-01A-11D-A423-09	TCGA-4V-A9QU-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d9e531d5-78eb-488b-a859-3e491dfd66c4	241c8049-d164-4789-8149-ad2484ccd18b	g.chr1:221054597C>G	ENST00000366903.6	+	2	2155	c.654C>G	c.(652-654)ccC>ccG	p.P218P	HLX_ENST00000549319.1_5'UTR|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	218					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCCTGCAGCCCTCGGCCGGCC	0.567																																							0											0													107	113	111					1																	221054597		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.654C>G	1.37:g.221054597C>G			B2R8A8|Q15988|Q59HE7|Q9NZ75	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.P218	ENST00000366903.6	37	c.654	CCDS1527.1	1																																																																																			0	NULL		0.567	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	protein_coding	OTTHUMT00000090902.3	44	182	0	0.00	0	0	C	NM_021958	0	0		221054597	1	no_errors	ENST00000366903	ensembl	human	known	74_37	silent	40	119	11.11	11.19	5	15	SNP	0.166	G	G	221054597	C	G	221054597	2	3	19	1	0	0	0	0	0	0	0	1	7216	668	24	5		5	HLX	1	221054597	Silent	SNP	C	TCGA-4V-A9QU-01A-11D-A423-09	195798318	221054597	28196024	2	195											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-4V-A9QU-01A-11D-A423-09	TCGA-4V-A9QU-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d9e531d5-78eb-488b-a859-3e491dfd66c4	241c8049-d164-4789-8149-ad2484ccd18b	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	284	169	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	420	125	7.89	13.19	36	19	SNP	1	A	A	74146970	T	A	74146970	3	1	19	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-4V-A9QU-01A-11D-A423-09		74146970	84991693	3	196											
LHFPL3	375612	genome.wustl.edu	37	chr7	103969251	103969251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagccgccgccgctgcCgccgccgccgccgccgcgat	2	2	14	23	11	0	0	0	0	0	0	0	2	0	1	10	1	2	1	10	1	0	0			TCGA-4V-A9QU-01A-11D-A423-09	TCGA-4V-A9QU-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9e531d5-78eb-488b-a859-3e491dfd66c4	241c8049-d164-4789-8149-ad2484ccd18b	g.chr7:103969251C>T	ENST00000535008.1	+	1	148	c.24C>T	c.(22-24)gcC>gcT	p.A8A	LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A8A|LHFPL3_ENST00000424859.1_5'UTR			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	8						integral component of membrane (GO:0016021)		p.A8A(1)		kidney(1)|large_intestine(2)|lung(6)	9						ccgccgctgccgccgccgccg	0.721																																							0											1	Substitution - coding silent(1)	kidney(1)											11	14	13					7																	103969251		1949	4092	6041	SO:0001819	synonymous_variant	0			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	ENST00000535008.1:c.24C>T	7.37:g.103969251C>T			A1L383|A4D0Q5	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.A8	ENST00000535008.1	37	c.24		7																																																																																			0	NULL		0.721	LHFPL3-201	KNOWN	basic	protein_coding	LHFPL3	protein_coding		26	10	0	0.00	0	0	C	NM_199000	0	0		103969251	1	no_errors	ENST00000535008	ensembl	human	known	74_37	silent	20	8	9.09	0.00	2	0	SNP	1	T	T	103969251	C	T	103969251	2	4	19	1	0	0	0	0	0	0	0	1	8766	639	23	2		2	LHFPL3	7	103969251	Silent	SNP	C	TCGA-4V-A9QU-01A-11D-A423-09	29822281	103969251	55169412	4	197											
NUAK1	9891	genome.wustl.edu	37	chr12	106461007	106461007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaagatgcccttcctcCggcaggagaggctgtgggag	7	9	15	10	1	1	2	1	0	0	2	3	4	3	3	3	4	1	3	3	4	1	2	rs117517173	byFrequency	TCGA-4V-A9QU-01A-11D-A423-09	TCGA-4V-A9QU-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d9e531d5-78eb-488b-a859-3e491dfd66c4	241c8049-d164-4789-8149-ad2484ccd18b	g.chr12:106461007C>T	ENST00000261402.2	-	7	2938	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	520					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						GCCCTTCCTCCGGCAGGAGAG	0.607													C|||	2	0.000399361	0	0	5008	,	,		16733	0		0.002	False		,,,				2504	0						0.9996,0.0003994											0								C	GLN/ARG	0,4406		0,0,2203	59	66	63		1559	4.4	1	12	dbSNP_132	63	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NUAK1	NM_014840.2	43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	520/662	106461007	4,13002	2203	4300	6503	SO:0001583	missense	0			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.1559G>A	12.37:g.106461007C>T	ENSP00000261402:p.Arg520Gln		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.R520Q	ENST00000261402.2	37	c.1559	CCDS31892.1	12	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	16.05	3.012528	0.54468	0.0	4.65E-4	ENSG00000074590	ENST00000261402	T	0.73363	-0.74	5.34	4.45	0.53987	.	0.000000	0.53938	D	0.000058	T	0.66538	0.2799	L	0.56769	1.78	0.44956	D	0.997976	D	0.53312	0.959	B	0.38985	0.287	T	0.65302	-0.6201	10	0.13470	T	0.59	.	14.2662	0.66121	0.0:0.928:0.0:0.072	.	520	O60285	NUAK1_HUMAN	Q	520	ENSP00000261402:R520Q	ENSP00000261402:R520Q	R	-	2	0	NUAK1	104985137	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	4.518000	0.60510	1.250000	0.43966	0.462000	0.41574	CGG	0	NULL		0.607	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	protein_coding	OTTHUMT00000405767.2	41	120	0	0.83	0	1	C	NM_014840	rs117517173	C->T		106461007	-1	no_errors	ENST00000261402	ensembl	human	known	74_37	missense	21	73	16	12.05	4	10	SNP	1	T	T	106461007	C	T	106461007	3	4	19	1	0	0	0	0	1	0	0	0	10712	652	23	2	430	2	NUAK1	12	106461007	Missense_Mutation	SNP	C	TCGA-4V-A9QU-01A-11D-A423-09		106461007	27390888	5	198											
ADORA1	134	genome.wustl.edu	37	chr1	203134442	203134442	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccatagccggctgctGgatcctctccttcgtggtgg	3	11	15	12	2	1	0	0	0	1	0	4	1	2	1	4	6	2	2	4	6	1	2			TCGA-4V-A9QW-01A-11D-A423-09	TCGA-4V-A9QW-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	83dbb5b1-f9bf-449b-971b-8b7a19dd5c65	78e453be-f5fd-42eb-b9c3-0a08f37da1a1	g.chr1:203134442G>A	ENST00000367236.4	+	3	1316	c.395G>A	c.(394-396)tGg>tAg	p.W132*	ADORA1_ENST00000309502.3_Nonsense_Mutation_p.W132*|ADORA1_ENST00000337894.4_Nonsense_Mutation_p.W132*|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	132					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	GCCGGCTGCTGGATCCTCTCC	0.662																																							0											0													59	63	62					1																	203134442		2203	4300	6503	SO:0001587	stop_gained	0			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.395G>A	1.37:g.203134442G>A	ENSP00000356205:p.Trp132*		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt	p.W132*	ENST00000367236.4	37	c.395	CCDS1434.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.773132	0.99465	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	.	.	.	4.94	4.94	0.65067	.	0.111084	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7336	18.5355	0.91009	0.0:0.0:1.0:0.0	.	.	.	.	X	132	.	ENSP00000308549:W132X	W	+	2	0	ADORA1	201401065	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.864000	0.99589	2.446000	0.82766	0.462000	0.41574	TGG	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.662	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	protein_coding	OTTHUMT00000100273.1	66	146	0	0.68	0	1	G	NM_000674	0	0		203134442	1	no_errors	ENST00000309502	ensembl	human	known	74_37	nonsense	68	190	8.11	6.37	6	13	SNP	1	A	A	203134442	G	A	203134442	4	1	20	1	0	0	0	0	0	1	0	0	326	1357	47	3	401	3	ADORA1	1	203134442	Nonsense_Mutation	SNP	G	TCGA-4V-A9QW-01A-11D-A423-09		203134442	46116179	1	199											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-4V-A9QW-01A-11D-A423-09	TCGA-4V-A9QW-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	83dbb5b1-f9bf-449b-971b-8b7a19dd5c65	78e453be-f5fd-42eb-b9c3-0a08f37da1a1	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	341	130	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	319	136	9.38	12.26	33	19	SNP	1	A	A	74146970	T	A	74146970	3	1	20	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-4V-A9QW-01A-11D-A423-09		74146970	84991693	2	200											
IGF2BP1	10642	genome.wustl.edu	37	chr17	47123348	47123348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatacgtgtgccagcatcaGcagctggccgggtcattggc	8	8	13	12	2	2	0	2	0	0	0	2	0	2	0	2	3	5	3	2	3	1	2			TCGA-4V-A9QW-01A-11D-A423-09	TCGA-4V-A9QW-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	83dbb5b1-f9bf-449b-971b-8b7a19dd5c65	78e453be-f5fd-42eb-b9c3-0a08f37da1a1	g.chr17:47123348G>A	ENST00000290341.3	+	13	1826	c.1492G>A	c.(1492-1494)Gca>Aca	p.A498T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A359T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	498	KH 4. {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						GCCAGCATCAGCAGCTGGCCG	0.552																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)		0											0													57	54	55					17																	47123348		2203	4300	6503	SO:0001583	missense	0			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.1492G>A	17.37:g.47123348G>A	ENSP00000290341:p.Ala498Thr		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.A498T	ENST00000290341.3	37	c.1492	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999624	0.74818	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.30714	1.52;1.52	5.5	5.5	0.81552	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	M	0.62088	1.915	0.80722	D	1	D;B	0.67145	0.996;0.013	D;B	0.81914	0.995;0.038	T	0.28138	-1.0053	10	0.17369	T	0.5	-13.2916	19.1843	0.93637	0.0:0.0:1.0:0.0	.	359;498	C9JT33;Q9NZI8	.;IF2B1_HUMAN	T	498;359	ENSP00000290341:A498T;ENSP00000389135:A359T	ENSP00000290341:A498T	A	+	1	0	IGF2BP1	44478347	1.000000	0.71417	0.980000	0.43619	0.896000	0.52359	7.759000	0.85235	2.861000	0.98227	0.655000	0.94253	GCA	0	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.552	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	protein_coding	OTTHUMT00000364046.1	43	193	0	0.52	0	1	G	NM_006546	0	0		47123348	1	no_errors	ENST00000290341	ensembl	human	known	74_37	missense	50	183	12.28	12.02	7	25	SNP	1	A	A	47123348	G	A	47123348	3	1	20	1	0	0	0	0	1	0	0	0	7573	971	34	3	1542	3	IGF2BP1	17	47123348	Missense_Mutation	SNP	G	TCGA-4V-A9QW-01A-11D-A423-09		47123348	34071862	3	201											
DSG1	1828	genome.wustl.edu	37	chr18	28916466	28916466	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaattgaaggcccagtgttTcgtccaggttcaaagacata	12	11	10	8	1	1	2	1	1	0	1	3	2	2	2	2	2	0	3	2	2	4	5			TCGA-4V-A9QW-01A-11D-A423-09	TCGA-4V-A9QW-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	83dbb5b1-f9bf-449b-971b-8b7a19dd5c65	78e453be-f5fd-42eb-b9c3-0a08f37da1a1	g.chr18:28916466T>C	ENST00000257192.4	+	9	1367	c.1155T>C	c.(1153-1155)ttT>ttC	p.F385F		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	385	Cadherin 3. {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)			GCCCAGTGTTTCGTCCAGGTT	0.368																																							0											0													96	87	90					18																	28916466		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1155T>C	18.37:g.28916466T>C			B7Z845	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.F385	ENST00000257192.4	37	c.1155	CCDS11896.1	18																																																																																			0	superfamily_Cadherin-like,pfscan_Cadherin		0.368	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	protein_coding	OTTHUMT00000254947.1	90	314	0	0.00	0	0	T	NM_001942	0	0		28916466	1	no_errors	ENST00000257192	ensembl	human	known	74_37	silent	86	327	8.51	5.76	8	20	SNP	0.944	C	C	28916466	T	C	28916466	2	2	20	1	0	0	0	0	0	0	0	1	4776	1780	62	3		3	DSG1	18	28916466	Silent	SNP	T	TCGA-4V-A9QW-01A-11D-A423-09		28916466	49160782	4	202											
FAM155B	27112	genome.wustl.edu	37	chrX	68725179	68725181	+	In_Frame_Del	DEL	CTG	CTG	-																															gacgccgccgcgctgactatCtgctgctgctgctgctgctg																								rs374286243		TCGA-4V-A9QW-01A-11D-A423-09	TCGA-4V-A9QW-10A-01D-A426-09	CTG	CTG	CTG	-	CTG	CTG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	83dbb5b1-f9bf-449b-971b-8b7a19dd5c65	78e453be-f5fd-42eb-b9c3-0a08f37da1a1	g.chrX:68725179_68725181delCTG	ENST00000252338.4	+	1	96_98	c.54_56delCTG	c.(52-57)atctgc>atc	p.C24del	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	24	Poly-Cys.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CGCTGACTATctgctgctgctgc	0.685																																							0											0										301,2703		28,218,27,1101,283						2.6	1			5	381,4605		40,195,106,1663,1084	no	coding	FAM155B	NM_015686.2		68,413,133,2764,1367	A1A1,A1R,A1,RR,R		7.6414,10.02,8.5357				682,7308				SO:0001651	inframe_deletion	0			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.54_56delCTG	X.37:g.68725188_68725190delCTG	ENSP00000252338:p.Cys24del		B1ALV6|B9EGK1|D3DVU1	In_Frame_Del	DEL	NULL	p.C22in_frame_del	ENST00000252338.4	37	c.54_56	CCDS35317.1	X																																																																																			0	NULL		0.685	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	protein_coding	OTTHUMT00000057037.1	8	9	0	0.00	0	0	CTG	NM_015686	rs374286243	TCTG->T		68725181	1	no_errors	ENST00000252338	ensembl	human	known	74_37	in_frame_del	4	13	33.33	13.33	2	2	DEL	1.000:1.000:1.000	0	-	68725181	CTG	-	68725179	7	5	20	1	0	1	0	1	0	0	0	0	5466	903	32	0	56	0	FAM155B	23	68725179	In_Frame_Del	DEL	CTG	TCGA-4V-A9QW-01A-11D-A423-09		68725179	86545381	5	203											
ITSN2	50618	genome.wustl.edu	37	chr2	24469672	24469672	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccacttccataccaggatGaaaggcaggtgtggctcttt	10	10	10	11	0	1	1	0	1	1	0	2	2	2	2	3	4	1	2	3	4	2	3			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr2:24469672G>C	ENST00000355123.4	-	28	3822	c.3379C>G	c.(3379-3381)Cat>Gat	p.H1127D	ITSN2_ENST00000361999.3_Missense_Mutation_p.H1100D|ITSN2_ENST00000406921.3_Missense_Mutation_p.H1127D	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1127	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					ATACCAGGATGAAAGGCAGGT	0.373																																							0											0													91	91	91					2																	24469672		2203	4300	6503	SO:0001583	missense	0			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.3379C>G	2.37:g.24469672G>C	ENSP00000347244:p.His1127Asp		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	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.H1127D	ENST00000355123.4	37	c.3379	CCDS1710.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.08|10.08	1.251854|1.251854	0.22880|0.22880	.|.	.|.	ENSG00000198399|ENSG00000198399	ENST00000416160|ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T|T;T;T;T	0.15718|0.16597	2.4|2.33;2.33;2.33;2.33	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Src homology-3 domain (2);	.|0.224065	.|0.21837	.|U	.|0.068400	T|T	0.09379|0.09379	0.0231|0.0231	N|N	0.08118|0.08118	0|0	0.37309|0.37309	D|D	0.909061|0.909061	.|B;B;B	.|0.29805	.|0.257;0.157;0.097	.|B;B;B	.|0.29077	.|0.098;0.069;0.031	T|T	0.33675|0.33675	-0.9859|-0.9859	7|10	0.28530|0.13470	T|T	0.3|0.59	.|.	14.7834|14.7834	0.69784|0.69784	0.0:0.0:0.8557:0.1443|0.0:0.0:0.8557:0.1443	.|.	.|1127;1100;1127	.|Q9NZM3-3;Q9NZM3-2;Q9NZM3	.|.;.;ITSN2_HUMAN	L|D	54|1100;1127;1100;1127	ENSP00000389013:F54L|ENSP00000354561:H1100D;ENSP00000347244:H1127D;ENSP00000370250:H1100D;ENSP00000384499:H1127D	ENSP00000389013:F54L|ENSP00000347244:H1127D	F|H	-|-	3|1	2|0	ITSN2|ITSN2	24323176|24323176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.951000|4.951000	0.63610|0.63610	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	TTC|CAT	0	superfamily_SH3_domain,pfscan_SH3_domain		0.373	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	protein_coding	OTTHUMT00000207620.2	144	389	0	0.00	0	0	G	NM_006277	0	0		24469672	-1	no_errors	ENST00000355123	ensembl	human	known	74_37	missense	122	343	7.58	7.30	10	27	SNP	0.999	C	C	24469672	G	C	24469672	3	2	21	1	0	0	0	0	1	0	0	0	7927	1290	45	5	1817	5	ITSN2	2	24469672	Missense_Mutation	SNP	G	TCGA-4V-A9QX-01A-11D-A423-09		24469672	218729701	1	204											
BIRC6	57448	genome.wustl.edu	37	chr2	32582265	32582265	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgcacctcccgggacTgtcactgagccgcttcccag	5	8	12	16	2	1	1	1	1	0	0	3	2	3	2	4	2	3	3	4	2	0	1			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr2:32582265T>A	ENST00000421745.2	+	1	170	c.36T>A	c.(34-36)acT>acA	p.T12T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	12					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)					CTCCCGGGACTGTCACTGAGC	0.726																																					Pancreas(94;175 1509 16028 18060 45422)		0											0													4	5	5					2																	32582265		1942	4066	6008	SO:0001819	synonymous_variant	0			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.36T>A	2.37:g.32582265T>A			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.T12	ENST00000421745.2	37	c.36	CCDS33175.2	2																																																																																			0	NULL		0.726	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	protein_coding	OTTHUMT00000318769.3	75	67	0	0.00	0	0	T	NM_016252	0	0		32582265	1	no_errors	ENST00000421745	ensembl	human	known	74_37	silent	56	53	8.2	12.90	5	8	SNP	1	A	A	32582265	T	A	32582265	2	1	21	1	0	0	0	0	0	0	0	1	1438	1567	55	5		5	BIRC6	2	32582265	Silent	SNP	T	TCGA-4V-A9QX-01A-11D-A423-09	8112593	32582265	210617108	2	205											
PLCL1	5334	genome.wustl.edu	37	chr2	198948983	198948983	+	Frame_Shift_Del	DEL	T	T	-																															tcatgtggttgaaaacagtgTttgaagcagcagatgttgat																										TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr2:198948983delT	ENST00000428675.1	+	2	1140	c.742delT	c.(742-744)tttfs	p.F248fs	PLCL1_ENST00000437704.2_Frame_Shift_Del_p.F150fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	248					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)	GAAAACAGTGTTTGAAGCAGC	0.453																																							0											0													141	142	141					2																	198948983		2203	4300	6503	SO:0001589	frameshift_variant	0			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.742delT	2.37:g.198948983delT	ENSP00000402861:p.Phe248fs		Q3MJ90|Q53SD3|Q7Z3S3	Frame_Shift_Del	DEL	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.F248fs	ENST00000428675.1	37	c.742	CCDS2326.2	2																																																																																			0	NULL		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	protein_coding	OTTHUMT00000340210.1	32	304	0	0.00	0	0	T	NM_006226	0	0		198948983	1	no_errors	ENST00000428675	ensembl	human	known	74_37	frame_shift_del	33	225	8.33	7.79	3	19	DEL	1	0	-	198948983	T	-	198948983	7	5	21	1	0	1	0	1	0	0	0	0	12039	1725	60	0	748	0	PLCL1	2	198948983	Frame_Shift_Del	DEL	T	TCGA-4V-A9QX-01A-11D-A423-09	166366718	198948983	44250390	3	206											
ZDBF2	57683	genome.wustl.edu	37	chr2	207171599	207171599	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctggaagatgagagcTgtgagtcagatagttctgaa	12	11	13	5	0	2	6	1	4	1	3	2	8	2	7	1	1	1	2	1	1	3	3			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr2:207171599T>C	ENST00000374423.3	+	5	2733	c.2347T>C	c.(2347-2349)Tgt>Cgt	p.C783R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	783							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						AGATGAGAGCTGTGAGTCAGA	0.408																																							0											0													153	154	154					2																	207171599		1917	4120	6037	SO:0001583	missense	0			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.2347T>C	2.37:g.207171599T>C	ENSP00000363545:p.Cys783Arg		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.C783R	ENST00000374423.3	37	c.2347	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	T	8.149	0.786901	0.16189	.	.	ENSG00000204186	ENST00000374423	T	0.50001	0.76	4.4	2.02	0.26589	.	0.470202	0.16012	N	0.233779	T	0.31071	0.0785	L	0.34521	1.04	0.09310	N	0.999995	P	0.50617	0.937	B	0.42851	0.4	T	0.09509	-1.0671	10	0.25106	T	0.35	.	3.8496	0.08949	0.1853:0.0994:0.0:0.7153	.	783	Q9HCK1	ZDBF2_HUMAN	R	783	ENSP00000363545:C783R	ENSP00000363545:C783R	C	+	1	0	ZDBF2	206879844	0.522000	0.26266	0.001000	0.08648	0.587000	0.36485	3.093000	0.50217	0.450000	0.26774	-0.376000	0.06991	TGT	0	NULL		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	protein_coding	OTTHUMT00000336458.1	80	287	0	0.00	0	0	T	NM_020923	0	0		207171599	1	no_errors	ENST00000374423	ensembl	human	known	74_37	missense	72	210	12.2	9.09	10	21	SNP	0.001	C	C	207171599	T	C	207171599	3	2	21	1	0	0	0	0	1	0	0	0	17596	1580	55	4	2357	4	ZDBF2	2	207171599	Missense_Mutation	SNP	T	TCGA-4V-A9QX-01A-11D-A423-09	8222616	207171599	36027774	4	207											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883770	228883770	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgctaaaccacaaagtggGggcatggcttcagaagcctc	11	8	11	11	0	1	1	1	0	0	1	2	1	1	1	2	3	3	3	2	3	4	3			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr2:228883770G>A	ENST00000392056.3	-	7	1846	c.1800C>T	c.(1798-1800)ccC>ccT	p.P600P	SPHKAP_ENST00000344657.5_Silent_p.P600P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	600						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)		CACAAAGTGGGGGCATGGCTT	0.547																																							0											0													39	37	38					2																	228883770		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1800C>T	2.37:g.228883770G>A			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.P600	ENST00000392056.3	37	c.1800	CCDS46537.1	2																																																																																			0	NULL		0.547	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	47	128	0	0.00	0	0	G	NM_030623	0	0		228883770	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	silent	39	116	11.36	8.66	5	11	SNP	0	A	A	228883770	G	A	228883770	2	1	21	1	0	0	0	0	0	0	0	1	15047	1219	43	3		3	SPHKAP	2	228883770	Silent	SNP	G	TCGA-4V-A9QX-01A-11D-A423-09	21712171	228883770	14315603	5	208											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178772260	178772262	+	In_Frame_Del	DEL	GCA	GCA	-																															cggcggcaggagcggcggcgGcagcagcagcagcagcagca																								rs565885690|rs372468383	byFrequency	TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr5:178772260_178772262delGCA	ENST00000251582.7	-	1	169_171	c.68_70delTGC	c.(67-72)ctgccg>ccg	p.L23del	ADAMTS2_ENST00000274609.5_In_Frame_Del_p.L23del	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	23					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)		agcggcggcggcagcagcagcag	0.813																																							0											0									,	2,20,42		1,0,0,10,0,21					,	0.6	0.7			1	8,21,129		4,0,0,10,1,64	no	codingComplex,codingComplex	ADAMTS2	NM_021599.2,NM_014244.4	,	5,0,0,20,1,85	A1A1,A1A2,A1R,A2A2,A2R,RR		18.3544,34.375,22.973	,	,		10,41,171				SO:0001651	inframe_deletion	0			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.68_70delTGC	5.37:g.178772269_178772271delGCA	ENSP00000251582:p.Leu23del			In_Frame_Del	DEL	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.L23in_frame_del	ENST00000251582.7	37	c.70_68	CCDS4444.1	5																																																																																			0	NULL		0.813	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	protein_coding	OTTHUMT00000253507.1	8	5	0	0.00	0	0	GCA	NM_014244	0	0		178772262	-1	no_errors	ENST00000251582	ensembl	human	known	74_37	in_frame_del	7	5	22.22	0.00	2	0	DEL	0.960:0.965:0.963	0	-	178772262	GCA	-	178772260	7	5	21	1	0	1	0	1	0	0	0	0	265	1203	42	0	3728	0	ADAMTS2	5	178772260	In_Frame_Del	DEL	GCA	TCGA-4V-A9QX-01A-11D-A423-09		178772260	2143000	6	209											
OGFRL1	79627	genome.wustl.edu	37	chr6	72011263	72011263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttatacaattagagaCagaagagaaaggagaaagct	18	10	10	3	0	0	4	0	0	0	4	0	7	0	4	0	1	2	2	0	1	7	5			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr6:72011263C>A	ENST00000370435.4	+	7	1001	c.867C>A	c.(865-867)gaC>gaA	p.D289E	RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	289						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CAATTAGAGACAGAAGAGAAA	0.423																																							0											0													61	66	64					6																	72011263		2203	4300	6503	SO:0001583	missense	0				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.867C>A	6.37:g.72011263C>A	ENSP00000359464:p.Asp289Glu		Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	pfam_OGF_rcpt	p.D289E	ENST00000370435.4	37	c.867	CCDS34482.1	6	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393430	0.42410	.	.	ENSG00000119900	ENST00000370435	T	0.47177	0.85	6.04	5.18	0.71444	Opioid growth factor receptor (OGFr) conserved domain (1);	0.158848	0.56097	D	0.000029	T	0.36991	0.0987	L	0.41492	1.28	0.35375	D	0.789369	D	0.53885	0.963	P	0.52309	0.695	T	0.21143	-1.0254	10	0.27785	T	0.31	-35.6143	15.3023	0.73962	0.0:0.9334:0.0:0.0666	.	289	Q5TC84	OGRL1_HUMAN	E	289	ENSP00000359464:D289E	ENSP00000359464:D289E	D	+	3	2	OGFRL1	72067984	1.000000	0.71417	0.999000	0.59377	0.223000	0.24884	2.106000	0.41835	1.576000	0.49790	0.563000	0.77884	GAC	0	pfam_OGF_rcpt		0.423	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFRL1	protein_coding	OTTHUMT00000041153.2	96	228	0	0.00	0	0	C	NM_024576	0	0		72011263	1	no_errors	ENST00000370435	ensembl	human	known	74_37	missense	71	154	8.97	10.98	7	19	SNP	1	A	A	72011263	C	A	72011263	3	1	21	1	0	0	0	0	1	0	0	0	10844	477	17	5	893	5	OGFRL1	6	72011263	Missense_Mutation	SNP	C	TCGA-4V-A9QX-01A-11D-A423-09		72011263	99103804	7	210											
DNAH11	8701	genome.wustl.edu	37	chr7	21906096	21906096	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatattacaggcaattgcCgtcatggaagaatttcgagg	13	11	10	7	2	2	1	2	0	0	1	3	3	2	2	1	3	2	1	1	3	5	4			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr7:21906096C>T	ENST00000409508.3	+	71	11536	c.11505C>T	c.(11503-11505)gcC>gcT	p.A3835A	DNAH11_ENST00000328843.6_Silent_p.A3842A	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3842					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						AGGCAATTGCCGTCATGGAAG	0.403									Kartagener syndrome																														0											0													117	111	113					7																	21906096		1881	4107	5988	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11505C>T	7.37:g.21906096C>T			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.A3842	ENST00000409508.3	37	c.11526		7																																																																																			0	pfam_Dynein_heavy_dom		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	49	194	0	0.00	0	0	C	NM_003777	0	0		21906096	1	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	53	141	10.17	10.62	6	17	SNP	0	T	T	21906096	C	T	21906096	2	4	21	1	0	0	0	0	0	0	0	1	4599	639	23	2		2	DNAH11	7	21906096	Silent	SNP	C	TCGA-4V-A9QX-01A-11D-A423-09		21906096	137232567	8	211											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	330	161	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	323	141	7.45	11.88	26	19	SNP	1	A	A	74146970	T	A	74146970	3	1	21	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-4V-A9QX-01A-11D-A423-09	52240874	74146970	84991693	9	212											
ZBTB10	65986	genome.wustl.edu	37	chr8	81399772	81399772	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgcgcggcccaagtctctaAtgcagaagctccaatgctcc	9	8	9	15	3	1	1	0	0	1	1	5	1	3	1	3	1	3	3	3	1	4	1	rs201044760		TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr8:81399772A>T	ENST00000430430.1	+	2	1506	c.727A>T	c.(727-729)Atg>Ttg	p.M243L	ZBTB10_ENST00000426744.2_Missense_Mutation_p.M243L|ZBTB10_ENST00000379091.4_Intron|Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000455036.3_Missense_Mutation_p.M243L	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	243					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)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			CAAGTCTCTAATGCAGAAGCT	0.617																																							0											0													31	34	33					8																	81399772		2001	4175	6176	SO:0001583	missense	0			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.727A>T	8.37:g.81399772A>T	ENSP00000387462:p.Met243Leu		A4FVD0|Q86W96|Q8IXI9|Q96MH9	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.M243L	ENST00000430430.1	37	c.727	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	A	1.034	-0.681003	0.03353	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.06768	3.26;3.26;3.27	4.52	-1.28	0.09318	.	0.171155	0.37095	N	0.002246	T	0.01976	0.0062	N	0.01874	-0.695	0.27091	N	0.962855	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43393	-0.9394	10	0.09843	T	0.71	.	3.8336	0.08885	0.2967:0.5007:0.092:0.1106	.	99;243;243	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	L	243;243;243;71	ENSP00000387462:M243L;ENSP00000412036:M243L;ENSP00000416134:M243L	ENSP00000416134:M243L	M	+	1	0	ZBTB10	81562327	0.974000	0.33945	0.828000	0.32881	0.180000	0.23129	1.791000	0.38744	-0.059000	0.13154	-0.250000	0.11733	ATG	0	NULL		0.617	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	protein_coding	OTTHUMT00000338055.2	33	178	0	0.00	0	0	A	NM_023929	0	0		81399772	1	no_errors	ENST00000430430	ensembl	human	known	74_37	missense	29	152	17.14	9.47	6	16	SNP	0.988	T	T	81399772	A	T	81399772	3	4	21	1	0	0	0	0	1	0	0	0	17520	101	4	5	729	5	ZBTB10	8	81399772	Missense_Mutation	SNP	A	TCGA-4V-A9QX-01A-11D-A423-09		81399772	64964250	10	213											
TSTA3	7264	genome.wustl.edu	37	chr8	144695460	144695460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcccatccgacttggttgtAtcaaactggaggctttgtca	8	13	10	10	1	2	0	2	0	0	0	3	2	3	1	2	3	2	3	2	3	2	4			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr8:144695460A>G	ENST00000425753.2	-	10	919	c.816T>C	c.(814-816)gaT>gaC	p.D272D	TSTA3_ENST00000529064.1_Silent_p.D272D	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	272					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	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)			ACTTGGTTGTATCAAACTGGA	0.582																																							0											0													155	134	141					8																	144695460		2203	4300	6503	SO:0001819	synonymous_variant	0			U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.816T>C	8.37:g.144695460A>G			B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Silent	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct	p.D272	ENST00000425753.2	37	c.816	CCDS6408.1	8																																																																																			0	NULL		0.582	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTA3	protein_coding	OTTHUMT00000382263.1	107	243	0	0.00	0	0	A	NM_003313	0	0		144695460	-1	no_errors	ENST00000425753	ensembl	human	known	74_37	silent	71	191	7.79	9.43	6	20	SNP	0.997	G	G	144695460	A	G	144695460	2	3	21	1	0	0	0	0	0	0	0	1	16671	446	16	3		3	TSTA3	8	144695460	Silent	SNP	A	TCGA-4V-A9QX-01A-11D-A423-09	63295688	144695460	1668562	11	214											
KRTAP5-1	387264	genome.wustl.edu	37	chr11	1606282	1606282	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagaagagccacagcccccTttgccacagctggagcagga	11	4	11	15	0	0	2	0	0	0	2	0	4	0	4	5	2	5	2	5	2	1	1			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr11:1606282T>C	ENST00000382171.2	-	1	231	c.198A>G	c.(196-198)aaA>aaG	p.K66K	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	66	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				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)		CACAGCCCCCTTTGCCACAGC	0.662																																							0											0													81	97	92					11																	1606282		2200	4299	6499	SO:0001819	synonymous_variant	0			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.198A>G	11.37:g.1606282T>C				Silent	SNP	NULL	p.K66	ENST00000382171.2	37	c.198	CCDS31330.1	11																																																																																			0	NULL		0.662	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-1	protein_coding	OTTHUMT00000127922.1	43	6	0	0.00	0	0	T	NM_001005922	0	0		1606282	-1	no_errors	ENST00000382171	ensembl	human	known	74_37	silent	70	7	7.89	0.00	6	0	SNP	0.7	C	C	1606282	T	C	1606282	2	2	21	1	0	0	0	0	0	0	0	1	8558	1606	56	4		4	KRTAP5-1	11	1606282	Silent	SNP	T	TCGA-4V-A9QX-01A-11D-A423-09		1606282	133400234	12	215											
OR5R1	219479	genome.wustl.edu	37	chr11	56184917	56184917	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtccaaggagtgattTgatttgggctgtaggtacat	8	15	13	5	0	1	2	0	2	1	0	2	3	2	3	1	3	1	3	1	3	3	4			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr11:56184917T>C	ENST00000312253.1	-	1	791	c.792A>G	c.(790-792)tcA>tcG	p.S264S		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	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)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGGAGTGATTTGATTTGGGCT	0.438																																							0											0													169	161	164					11																	56184917		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.792A>G	11.37:g.56184917T>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S264	ENST00000312253.1	37	c.792	CCDS31530.1	11																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.438	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	protein_coding	OTTHUMT00000334444.1	52	245	0	0.00	0	0	T	NM_001004744	0	0		56184917	-1	no_errors	ENST00000312253	ensembl	human	known	74_37	silent	38	171	9.52	9.52	4	18	SNP	0	C	C	56184917	T	C	56184917	2	2	21	1	0	0	0	0	0	0	0	1	11180	1799	63	3		3	OR5R1	11	56184917	Silent	SNP	T	TCGA-4V-A9QX-01A-11D-A423-09	54578635	56184917	78821599	13	216											
PGM2L1	283209	genome.wustl.edu	37	chr11	74058312	74058312	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacactttaaaagccaactGcacatagtcatgtccgaccc	15	8	5	13	1	1	0	1	0	0	0	2	1	2	0	3	0	4	1	3	0	5	3	rs139328516		TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr11:74058312G>A	ENST00000298198.4	-	7	1131	c.820C>T	c.(820-822)Cag>Tag	p.Q274*		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	274					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AAAGCCAACTGCACATAGTCA	0.393																																							0											0													91	85	87					11																	74058312		2200	4293	6493	SO:0001587	stop_gained	0			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.820C>T	11.37:g.74058312G>A	ENSP00000298198:p.Gln274*		Q96MQ7|Q9UIK3	Nonsense_Mutation	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	p.Q274*	ENST00000298198.4	37	c.820	CCDS8231.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.793476	0.98492	.	.	ENSG00000165434	ENST00000298198	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-9.8625	16.7933	0.85595	0.0:0.0:1.0:0.0	.	.	.	.	X	274	.	ENSP00000298198:Q274X	Q	-	1	0	PGM2L1	73735960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.535000	0.85469	0.563000	0.77884	CAG	0	pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.393	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2L1	protein_coding	OTTHUMT00000398324.1	86	408	0	0.00	0	0	G	NM_173582	0	0		74058312	-1	no_errors	ENST00000298198	ensembl	human	known	74_37	nonsense	68	335	8.11	5.60	6	20	SNP	1	A	A	74058312	G	A	74058312	4	1	21	1	0	0	0	0	0	1	0	0	11799	1328	46	3	1080	3	PGM2L1	11	74058312	Nonsense_Mutation	SNP	G	TCGA-4V-A9QX-01A-11D-A423-09	17873395	74058312	60948204	14	217											
PKMYT1	9088	genome.wustl.edu	37	chr16	3024072	3024072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggtggtgagccaggCggggtggctggcgggcccag	4	5	22	10	2	0	1	0	1	0	0	0	1	0	1	2	8	2	2	2	8	0	0	rs376585568		TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr16:3024072C>T	ENST00000262300.8	-	7	1747	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PKMYT1_ENST00000431515.2_Silent_p.P413P|PKMYT1_ENST00000574385.1_Silent_p.P404P|PKMYT1_ENST00000574730.1_Silent_p.P344P|PKMYT1_ENST00000440027.2_Silent_p.P413P|PKMYT1_ENST00000573944.1_Silent_p.P404P	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	413	Interaction with PIN1.				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						GTGAGCCAGGCGGGGTGGCTG	0.677																																							0											0								C	,	0,4384		0,0,2192	20	23	22		1239,1239	-11	0.6	16		22	1,8593		0,1,4296	no	coding-synonymous,coding-synonymous	PKMYT1	NM_004203.4,NM_182687.2	,	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	,	413/500,413/481	3024072	1,12977	2192	4297	6489	SO:0001819	synonymous_variant	0			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.1239G>A	16.37:g.3024072C>T			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	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_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom	p.P413	ENST00000262300.8	37	c.1239	CCDS10486.1	16																																																																																			0	pirsf_Tyr/Thr_kinase_Cdc2_inhib		0.677	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	PKMYT1	protein_coding	OTTHUMT00000250963.2	56	62	0	0.00	0	0	C	NM_004203	rs376585568	C->T		3024072	-1	no_errors	ENST00000262300	ensembl	human	known	74_37	silent	46	53	13.21	7.02	7	4	SNP	0.148	T	T	3024072	C	T	3024072	2	4	21	1	0	0	0	0	0	0	0	1	11978	755	27	1		1	PKMYT1	16	3024072	Silent	SNP	C	TCGA-4V-A9QX-01A-11D-A423-09		3024072	87330681	15	218											
ALDH3A1	218	genome.wustl.edu	37	chr17	19646716	19646716	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcagggagcttctggaTcatgtactcgatctcctcta	8	12	8	13	1	5	0	2	0	3	0	7	3	5	2	2	2	2	2	2	2	2	3			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr17:19646716T>G	ENST00000457500.2	-	2	552	c.223A>C	c.(223-225)Atc>Ctc	p.I75L	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.I75L|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.I2L|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.I75L|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.I75L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	75					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		AGCTTCTGGATCATGTACTCG	0.607																																							0											0													136	124	128					17																	19646716		2203	4300	6503	SO:0001583	missense	0			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.223A>C	17.37:g.19646716T>G	ENSP00000411821:p.Ile75Leu		A8K828|Q9BT37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.I75L	ENST00000457500.2	37	c.223	CCDS11212.1	17	.	.	.	.	.	.	.	.	.	.	T	0.416	-0.910617	0.02434	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102;ENST00000426645	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	4.82	0.967	0.19674	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	.	.	.	.	T	0.43590	0.1254	N	0.03304	-0.355	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.17433	0.018;0.018	T	0.38045	-0.9679	9	0.02654	T	1	.	6.797	0.23731	0.0:0.0809:0.255:0.6641	.	75;75	A8K828;P30838	.;AL3A1_HUMAN	L	75;75;133;75;75;2;75;75	ENSP00000225740:I75L;ENSP00000378923:I75L;ENSP00000388469:I75L;ENSP00000411821:I75L;ENSP00000389766:I75L	ENSP00000225740:I75L	I	-	1	0	ALDH3A1	19587308	0.003000	0.15002	0.116000	0.21606	0.425000	0.31504	0.096000	0.15147	0.706000	0.31912	0.533000	0.62120	ATC	0	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)		0.607	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALDH3A1	protein_coding	OTTHUMT00000132265.4	33	101	0	0.98	0	1	T	NM_000691	0	0		19646716	-1	no_errors	ENST00000225740	ensembl	human	known	74_37	missense	43	102	14	6.36	7	7	SNP	0.006	G	G	19646716	T	G	19646716	3	3	21	1	0	0	0	0	1	0	0	0	497	1435	50	5	1174	5	ALDH3A1	17	19646716	Missense_Mutation	SNP	T	TCGA-4V-A9QX-01A-11D-A423-09		19646716	61548494	16	219											
LGALS3BP	3959	genome.wustl.edu	37	chr17	76969227	76969227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgatggacaggtcgcagcCccgctggctgtcaaagatct	8	8	13	12	2	2	2	1	1	1	1	3	3	2	3	2	3	1	4	2	3	1	0			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr17:76969227C>T	ENST00000262776.3	-	5	762	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	LGALS3BP_ENST00000591778.1_Intron|LGALS3BP_ENST00000585407.1_Missense_Mutation_p.G152S	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	152					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)			AGGTCGCAGCCCCGCTGGCTG	0.647																																					GBM(89;1105 1755 18102 21513)		0											0													26	23	24					17																	76969227		2203	4299	6502	SO:0001583	missense	0			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.454G>A	17.37:g.76969227C>T	ENSP00000262776:p.Gly152Ser		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	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.G152S	ENST00000262776.3	37	c.454	CCDS11759.1	17	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380093	0.42207	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.22134	1.97	3.04	3.04	0.35103	BTB/POZ fold (2);	0.445392	0.16774	N	0.200089	T	0.17619	0.0423	L	0.54323	1.7	0.09310	N	0.999996	P	0.43750	0.816	B	0.35859	0.212	T	0.14364	-1.0475	10	0.45353	T	0.12	.	9.8161	0.40853	0.0:1.0:0.0:0.0	.	152	Q08380	LG3BP_HUMAN	S	152;140	ENSP00000262776:G152S	ENSP00000262776:G152S	G	-	1	0	LGALS3BP	74480822	0.001000	0.12720	0.781000	0.31783	0.035000	0.12851	0.666000	0.25097	2.042000	0.60477	0.561000	0.74099	GGC	0	superfamily_BTB/POZ_fold		0.647	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	protein_coding	OTTHUMT00000437785.3	22	99	0	0.00	0	0	C	NM_005567	0	0		76969227	-1	no_errors	ENST00000262776	ensembl	human	known	74_37	missense	17	82	10.53	11.70	2	11	SNP	0.154	T	T	76969227	C	T	76969227	3	4	21	1	0	0	0	0	1	0	0	0	8744	623	22	3	1311	3	LGALS3BP	17	76969227	Missense_Mutation	SNP	C	TCGA-4V-A9QX-01A-11D-A423-09	57322511	76969227	4225983	17	220											
CAPNS1	826	genome.wustl.edu	37	chr19	36632025	36632027	+	In_Frame_Del	DEL	GGC	GGC	-																															gcctgatcagcggggccgggGgcggcggcggcggcggcggc																										TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr19:36632025_36632027delGGC	ENST00000246533.3	+	2	710_712	c.112_114delGGC	c.(112-114)ggcdel	p.G56del	CAPNS1_ENST00000590874.1_In_Frame_Del_p.G56del|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_In_Frame_Del_p.G56del|CAPNS1_ENST00000588780.1_In_Frame_Del_p.G56del|CAPNS1_ENST00000588815.1_In_Frame_Del_p.G56del|CAPNS1_ENST00000589146.1_Intron	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	56	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)			CGGGGCcgggggcggcggcggcg	0.754																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)		0											0									,	2,68		1,0,34					,	-10.1	0			1	22,420		9,4,208	no	coding,coding	CAPNS1	NM_001749.2,NM_001003962.1	,	10,4,242	A1A1,A1R,RR		4.9774,2.8571,4.6875	,	,		24,488				SO:0001651	inframe_deletion	0			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.112_114delGGC	19.37:g.36632034_36632036delGGC	ENSP00000246533:p.Gly56del		A8K0P1|Q8WTX3|Q96EW0	In_Frame_Del	DEL	pfscan_EF_hand_dom	p.G41in_frame_del	ENST00000246533.3	37	c.112_114	CCDS12489.1	19																																																																																			0	NULL		0.754	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	protein_coding	OTTHUMT00000457411.2	48	3	0	0.00	0	0	GGC		0	0		36632027	1	no_errors	ENST00000588780	ensembl	human	known	74_37	in_frame_del	30	4	9.09	0.00	3	0	DEL	0.907:0.986:0.987	0	-	36632027	GGC	-	36632025	7	5	21	1	0	1	0	1	0	0	0	0	2633	1232	43	0	114	0	CAPNS1	19	36632025	In_Frame_Del	DEL	GGC	TCGA-4V-A9QX-01A-11D-A423-09		36632025	22496958	18	221											
C20orf4	25980	genome.wustl.edu	37	chr20	34832739	34832739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccatgatgaagcaccacaCcctctacatcaacctcatct	13	8	4	16	0	4	2	2	2	2	0	4	2	4	2	4	0	4	1	4	0	3	1			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr20:34832739C>G	ENST00000373932.3	+	3	1224	c.878C>G	c.(877-879)aCc>aGc	p.T293S	AAR2_ENST00000320849.4_Missense_Mutation_p.T293S|AAR2_ENST00000397286.3_Missense_Mutation_p.T293S	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	293																	AAGCACCACACCCTCTACATC	0.542																																							0											0													233	186	202					20																	34832739		2203	4300	6503	SO:0001583	missense	0				CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 4"	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.878C>G	20.37:g.34832739C>G	ENSP00000363043:p.Thr293Ser		E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	pfam_AAR2	p.T293S	ENST00000373932.3	37	c.878	CCDS13273.1	20	.	.	.	.	.	.	.	.	.	.	C	3.132	-0.178216	0.06380	.	.	ENSG00000131043	ENST00000397286;ENST00000320849;ENST00000373932	T;T;T	0.40476	1.03;1.03;1.03	6.03	-5.17	0.02849	.	0.672835	0.16378	N	0.217010	T	0.11067	0.0270	N	0.00926	-1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.0	T	0.41556	-0.9502	10	0.09084	T	0.74	.	11.1889	0.48673	0.3699:0.2195:0.4106:0.0	.	293;293	A2A2Q9;Q9Y312	.;CT004_HUMAN	S	293	ENSP00000380455:T293S;ENSP00000313674:T293S;ENSP00000363043:T293S	ENSP00000313674:T293S	T	+	2	0	C20orf4	34296153	0.017000	0.18338	0.016000	0.15963	0.263000	0.26337	-0.077000	0.11394	-0.372000	0.07992	0.655000	0.94253	ACC	0	pfam_AAR2		0.542	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAR2	protein_coding	OTTHUMT00000079001.2	39	226	0	0.00	0	0	C	NM_015511	0	0		34832739	1	no_errors	ENST00000320849	ensembl	human	known	74_37	missense	59	174	10.61	11.68	7	23	SNP	0.165	G	G	34832739	C	G	34832739	3	3	21	1	0	0	0	0	1	0	0	0	2111	507	18	5	884	5	C20orf4	20	34832739	Missense_Mutation	SNP	C	TCGA-4V-A9QX-01A-11D-A423-09		34832739	28192781	19	222											
FAM120C	54954	genome.wustl.edu	37	chrX	54099529	54099529	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaagtggttcttctccctAttattcatagggaggtagcg	8	15	11	7	1	3	0	1	0	2	0	4	1	3	1	1	3	1	3	1	3	5	8			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chrX:54099529A>G	ENST00000375180.2	-	16	3284	c.3228T>C	c.(3226-3228)aaT>aaC	p.N1076N	FAM120C_ENST00000328235.4_3'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1076							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						TCTTCTCCCTATTATTCATAG	0.448																																							0											0													223	173	190					X																	54099529		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3228T>C	X.37:g.54099529A>G			B2RMT7	Silent	SNP	NULL	p.N1076	ENST00000375180.2	37	c.3228	CCDS14356.1	X																																																																																			0	NULL		0.448	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	protein_coding	OTTHUMT00000056795.2	93	289	0	0.69	0	2	A	NM_017848	0	0		54099529	-1	no_errors	ENST00000375180	ensembl	human	known	74_37	silent	73	281	13.1	7.54	11	23	SNP	0.992	G	G	54099529	A	G	54099529	2	3	21	1	0	0	0	0	0	0	0	1	5418	446	16	3		3	FAM120C	23	54099529	Silent	SNP	A	TCGA-4V-A9QX-01A-11D-A423-09		54099529	101171031	20	223											
SLITRK4	139065	genome.wustl.edu	37	chrX	142718489	142718489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgaaggctcctcgttcaaTatacttgattaaattgtagt	12	16	7	6	1	1	2	1	2	0	0	3	2	2	2	1	1	1	3	1	1	7	8			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chrX:142718489T>C	ENST00000381779.4	-	2	661	c.436A>G	c.(436-438)Att>Gtt	p.I146V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.I146V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.I146V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	146						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGTTCAATATACTTGATT	0.378																																							0											0													81	82	82					X																	142718489		2203	4300	6503	SO:0001583	missense	0			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.436A>G	X.37:g.142718489T>C	ENSP00000371198:p.Ile146Val		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.I146V	ENST00000381779.4	37	c.436	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	T	14.91	2.677580	0.47886	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.62364	0.03;0.03;0.03	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	L	0.41492	1.28	0.80722	D	1	D	0.64830	0.994	D	0.64237	0.923	T	0.68416	-0.5414	10	0.40728	T	0.16	-9.957	13.1529	0.59500	0.0:0.0:0.0:1.0	.	146	Q8IW52	SLIK4_HUMAN	V	146	ENSP00000371198:I146V;ENSP00000349400:I146V;ENSP00000336627:I146V	ENSP00000336627:I146V	I	-	1	0	SLITRK4	142546155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.788000	0.52465	0.486000	0.48141	ATT	0	smart_Leu-rich_rpt_typical-subtyp		0.378	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	protein_coding	OTTHUMT00000058617.1	77	309	0	0.00	0	0	T	NM_173078	0	0		142718489	-1	no_errors	ENST00000338017	ensembl	human	known	74_37	missense	55	232	11.29	6.83	7	17	SNP	1	C	C	142718489	T	C	142718489	3	2	21	1	0	0	0	0	1	0	0	0	14745	1406	49	3	2081	3	SLITRK4	23	142718489	Missense_Mutation	SNP	T	TCGA-4V-A9QX-01A-11D-A423-09	88618960	142718489	12552071	21	224											
IVL	3713	genome.wustl.edu	37	chr1	152882981	152882981	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcagctggagctcccAcagcagcaggaggggcagct	9	3	18	11	0	0	0	0	0	0	0	1	3	1	2	1	6	5	7	1	6	0	0	rs62637699	byFrequency	TCGA-4X-A9F9-01A-11D-A423-09	TCGA-4X-A9F9-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18a079f8-138d-4f90-adfa-6799da8a6018	54bbc237-6add-4212-af06-712d0e988380	g.chr1:152882981A>T	ENST00000368764.3	+	2	772	c.708A>T	c.(706-708)ccA>ccT	p.P236P	IVL_ENST00000392667.2_Silent_p.P90P			P07476	INVO_HUMAN	involucrin	236	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].		P -> S (in dbSNP:rs17855670). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2873896}.		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)			tggagctcccacagcagcagg	0.677																																							0											0													3	4	3					1																	152882981		1601	3431	5032	SO:0001819	synonymous_variant	0			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.708A>T	1.37:g.152882981A>T			Q5T7P4	Silent	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.P236	ENST00000368764.3	37	c.708	CCDS1030.1	1																																																																																			0	pfam_Involucrin_rpt		0.677	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	protein_coding	OTTHUMT00000034664.1	21	0	0	0.00	0	0	A	NM_005547	rs62637699	A->T		152882981	1	no_errors	ENST00000368764	ensembl	human	known	74_37	silent	19	0	29.63	0.00	8	0	SNP	0	T	T	152882981	A	T	152882981	2	4	22	1	0	0	0	0	0	0	0	1	7929	146	6	5		5	IVL	1	152882981	Silent	SNP	A	TCGA-4X-A9F9-01A-11D-A423-09		152882981	96367640	1	225											
STARD6	147323	genome.wustl.edu	37	chr18	51855782	51855782	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatataatttgaagatggAggatattctggaaaatccac	15	11	10	5	1	1	2	0	1	1	1	2	6	2	6	1	4	0	0	1	4	6	5			TCGA-4X-A9F9-01A-11D-A423-09	TCGA-4X-A9F9-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	18a079f8-138d-4f90-adfa-6799da8a6018	54bbc237-6add-4212-af06-712d0e988380	g.chr18:51855782A>T	ENST00000581310.1	-	8	787	c.414T>A	c.(412-414)ccT>ccA	p.P138P	STARD6_ENST00000307844.3_Silent_p.P138P|STARD6_ENST00000580990.2_Intron			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	138	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TTGAAGATGGAGGATATTCTG	0.318																																							0											0													120	131	127					18																	51855782		2203	4300	6503	SO:0001819	synonymous_variant	0			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"StAR-related lipid transfer (START) domain containing"	18066	protein-coding gene	gene with protein product		607051	"START domain containing 6"			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.414T>A	18.37:g.51855782A>T				Silent	SNP	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.P138	ENST00000581310.1	37	c.414	CCDS11955.1	18																																																																																			0	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom		0.318	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STARD6	protein_coding	OTTHUMT00000256000.3	198	215	0	0.92	0	2	A	NM_139171	0	0		51855782	-1	no_errors	ENST00000307844	ensembl	human	known	74_37	silent	108	207	7.63	4.61	9	10	SNP	1	T	T	51855782	A	T	51855782	2	4	22	1	0	0	0	0	0	0	0	1	15260	291	11	5		5	STARD6	18	51855782	Silent	SNP	A	TCGA-4X-A9F9-01A-11D-A423-09		51855782	26221466	2	226											
SDCCAG8	10806	genome.wustl.edu	37	chr1	243480113	243480113	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggagcagcttggcagataCgcagcaaagagaagcaagtg	16	4	14	7	1	0	2	0	0	0	2	0	4	0	3	0	2	5	6	0	2	5	2	rs35859404	byFrequency	TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr1:243480113C>A	ENST00000366541.3	+	9	1104	c.986C>A	c.(985-987)aCg>aAg	p.T329K	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.T286K|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.T184K|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.T329K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	329	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTGGCAGATACGCAGCAAAGA	0.393																																							0											0													97	92	94					1																	243480113		2203	4300	6503	SO:0001583	missense	0			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.986C>A	1.37:g.243480113C>A	ENSP00000355499:p.Thr329Lys		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	NULL	p.T329K	ENST00000366541.3	37	c.986	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622046	0.28889	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.63	0.782	0.18567	.	0.716838	0.14432	N	0.319951	T	0.23572	0.0570	N	0.22421	0.69	0.09310	N	1	B;B	0.32573	0.21;0.376	B;B	0.31614	0.057;0.133	T	0.20840	-1.0263	10	0.14656	T	0.56	0.6172	8.2978	0.31995	0.0:0.3219:0.0:0.6781	.	286;329	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	K	286;329;329;184;109	ENSP00000348137:T286K;ENSP00000375721:T329K;ENSP00000355499:T329K;ENSP00000341260:T184K;ENSP00000410200:T109K	ENSP00000341260:T184K	T	+	2	0	SDCCAG8	241546736	0.142000	0.22610	0.048000	0.18961	0.854000	0.48673	0.243000	0.18106	-0.045000	0.13468	-0.302000	0.09304	ACG	0	NULL		0.393	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	protein_coding	OTTHUMT00000096485.1	74	104	0	0.00	0	0	C	NM_006642	0	0		243480113	1	no_errors	ENST00000366541	ensembl	human	known	74_37	missense	43	68	34.33	46.88	23	60	SNP	0.159	A	A	243480113	C	A	243480113	3	1	23	1	0	0	0	0	1	0	0	0	13959	536	19	5	1020	5	SDCCAG8	1	243480113	Missense_Mutation	SNP	C	TCGA-4X-A9FA-01A-11D-A423-09		243480113	5770508	1	227											
APOB	338	genome.wustl.edu	37	chr2	21231626	21231626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagtctggcagggtgattCtcgctagaggaatgtcctcc	8	10	14	9	1	2	2	0	1	2	1	5	4	4	4	2	4	0	2	2	4	3	2			TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr2:21231626C>G	ENST00000233242.1	-	26	8241	c.8114G>C	c.(8113-8115)aGa>aCa	p.R2705T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2705					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)					CAGGGTGATTCTCGCTAGAGG	0.448																																							0											0													147	150	149					2																	21231626		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8114G>C	2.37:g.21231626C>G	ENSP00000233242:p.Arg2705Thr		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.R2705T	ENST00000233242.1	37	c.8114	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	2.968	-0.213142	0.06140	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00705	5.81	5.22	3.31	0.37934	.	0.890844	0.09774	N	0.757549	T	0.00815	0.0027	L	0.44542	1.39	0.18873	N	0.999985	B	0.30763	0.294	B	0.27887	0.084	T	0.46707	-0.9172	10	0.14252	T	0.57	.	5.852	0.18697	0.0:0.4999:0.3534:0.1467	.	2705	P04114	APOB_HUMAN	T	2705	ENSP00000233242:R2705T	ENSP00000233242:R2705T	R	-	2	0	APOB	21085131	0.000000	0.05858	0.105000	0.21289	0.246000	0.25737	0.465000	0.22004	2.437000	0.82529	0.561000	0.74099	AGA	0	NULL		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	56	177	0	0.00	0	0	C		0	0		21231626	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	29	127	51.67	27.84	31	49	SNP	0	G	G	21231626	C	G	21231626	3	3	23	1	0	0	0	0	1	0	0	0	785	913	32	5	5593	5	APOB	2	21231626	Missense_Mutation	SNP	C	TCGA-4X-A9FA-01A-11D-A423-09		21231626	221967747	2	228											
COL6A6	131873	genome.wustl.edu	37	chr3	130313158	130313158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagggactcctggtgacCgtggagcaaagggcctgcga	10	5	17	9	2	0	2	0	1	0	1	1	6	1	4	3	4	2	1	3	4	1	0			TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr3:130313158C>T	ENST00000358511.6	+	17	4535	c.4504C>T	c.(4504-4506)Cgt>Tgt	p.R1502C	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1502C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1502	Triple-helical 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 matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1502S(2)		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						TCCTGGTGACCGTGGAGCAAA	0.463																																							0											2	Substitution - Missense(2)	lung(2)											76	82	80					3																	130313158		1867	4091	5958	SO:0001583	missense	0			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.4504C>T	3.37:g.130313158C>T	ENSP00000351310:p.Arg1502Cys		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1502C	ENST00000358511.6	37	c.4504	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730378	0.30684	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.93366	-3.21;-3.21	5.17	4.24	0.50183	.	1.191030	0.06333	N	0.706531	D	0.93956	0.8065	M	0.90019	3.08	0.32836	D	0.50471	D	0.56968	0.978	B	0.41299	0.353	D	0.91787	0.5440	10	0.56958	D	0.05	.	7.7749	0.29030	0.0:0.7424:0.1664:0.0911	.	1502	A6NMZ7	CO6A6_HUMAN	C	1502	ENSP00000351310:R1502C;ENSP00000399236:R1502C	ENSP00000351310:R1502C	R	+	1	0	COL6A6	131795848	0.004000	0.15560	0.934000	0.37439	0.208000	0.24298	0.898000	0.28404	2.575000	0.86900	0.650000	0.86243	CGT	0	NULL		0.463	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	protein_coding	OTTHUMT00000356705.5	87	119	0	0.00	0	0	C	NM_001102608	0	0		130313158	1	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	60	73	42.31	40.16	44	49	SNP	0.721	T	T	130313158	C	T	130313158	3	4	23	1	0	0	0	0	1	0	0	0	3703	652	23	2	4570	2	COL6A6	3	130313158	Missense_Mutation	SNP	C	TCGA-4X-A9FA-01A-11D-A423-09		130313158	67709272	3	229											
TNIP2	79155	genome.wustl.edu	37	chr4	2749564	2749564	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctccccttctgccatgcTcctccgtagcaggacgactt	5	10	9	17	3	1	0	0	0	1	0	4	2	4	1	5	1	3	4	5	1	1	3			TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr4:2749564T>G	ENST00000315423.7	-	2	471	c.385A>C	c.(385-387)Agc>Cgc	p.S129R	TNIP2_ENST00000510267.1_Missense_Mutation_p.S22R|TNIP2_ENST00000505186.1_5'Flank|TNIP2_ENST00000503235.1_Missense_Mutation_p.S129R	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTGCCATGCTCCTCCGTAGC	0.647																																							0											0													77	74	75					4																	2749564		2203	4300	6503	SO:0001583	missense	0			BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.385A>C	4.37:g.2749564T>G	ENSP00000321203:p.Ser129Arg			Missense_Mutation	SNP	pfam_EABR	p.S129R	ENST00000315423.7	37	c.385	CCDS3362.1	4	.	.	.	.	.	.	.	.	.	.	t	12.19	1.863565	0.32884	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.49139	0.86;0.82;0.79	3.64	0.998	0.19857	.	0.121724	0.53938	D	0.000056	T	0.53449	0.1797	M	0.64404	1.975	0.24919	N	0.991992	D;B	0.71674	0.998;0.005	D;B	0.65323	0.934;0.003	T	0.45396	-0.9264	10	0.19147	T	0.46	-6.8035	5.8924	0.18921	0.0:0.092:0.1659:0.7421	.	129;129	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	R	22;129;129	ENSP00000427613:S22R;ENSP00000321203:S129R;ENSP00000426314:S129R	ENSP00000321203:S129R	S	-	1	0	TNIP2	2719362	0.556000	0.26538	0.402000	0.26371	0.027000	0.11550	1.934000	0.40163	0.114000	0.18032	0.449000	0.29647	AGC	0	NULL		0.647	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP2	protein_coding	OTTHUMT00000206589.5	35	72	0	0.00	0	0	T	NM_024309	0	0		2749564	-1	no_errors	ENST00000315423	ensembl	human	known	74_37	missense	31	69	11.43	4.17	4	3	SNP	0.539	G	G	2749564	T	G	2749564	3	3	23	1	0	0	0	0	1	0	0	0	16312	1551	54	5	924	5	TNIP2	4	2749564	Missense_Mutation	SNP	T	TCGA-4X-A9FA-01A-11D-A423-09		2749564	188404712	4	230											
TMEM63B	55362	genome.wustl.edu	37	chr6	44107320	44107320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtaggcatcgtgctgcCtgtcaacttctcaggggacc	6	10	11	14	2	2	0	2	0	1	0	5	1	3	1	3	3	3	3	3	3	2	2	rs200560167		TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr6:44107320C>T	ENST00000259746.9	+	7	707	c.524C>T	c.(523-525)cCt>cTt	p.P175L	TMEM63B_ENST00000323267.6_Missense_Mutation_p.P175L|TMEM63B_ENST00000527188.1_3'UTR			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	175					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)			ATCGTGCTGCCTGTCAACTTC	0.627																																							0											0													130	98	109					6																	44107320		2203	4300	6503	SO:0001583	missense	0			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.524C>T	6.37:g.44107320C>T	ENSP00000259746:p.Pro175Leu		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.P175L	ENST00000259746.9	37	c.524	CCDS34461.1	6	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488442	0.84854	.	.	ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267	T;T;T	0.73047	-0.71;-0.71;-0.71	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.83238	0.5211	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;1.0;0.999	D	0.86382	0.1730	10	0.87932	D	0	.	16.4299	0.83839	0.0:1.0:0.0:0.0	.	175;175;175	Q5T3F8-3;Q5T3F8;Q5T3F8-2	.;TM63B_HUMAN;.	L	175	ENSP00000259746:P175L;ENSP00000437163:P175L;ENSP00000327154:P175L	ENSP00000259746:P175L	P	+	2	0	TMEM63B	44215298	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	7.631000	0.83237	2.350000	0.79820	0.561000	0.74099	CCT	0	NULL		0.627	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	protein_coding	OTTHUMT00000040712.2	56	91	0	0.00	0	0	C	XM_166410	0	0		44107320	1	no_errors	ENST00000259746	ensembl	human	known	74_37	missense	26	56	27.78	41.05	10	39	SNP	1	T	T	44107320	C	T	44107320	3	4	23	1	0	0	0	0	1	0	0	0	16188	681	24	3	546	3	TMEM63B	6	44107320	Missense_Mutation	SNP	C	TCGA-4X-A9FA-01A-11D-A423-09		44107320	127007747	5	231											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	351	80	0.28	0.00	1	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	230	85	38.56	33.59	145	43	SNP	1	A	A	74146970	T	A	74146970	3	1	23	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-4X-A9FA-01A-11D-A423-09		74146970	84991693	6	232											
TMEM139	135932	genome.wustl.edu	37	chr7	142983162	142983162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagacggacatcacccccGttgcttatttctttctcaca	10	13	5	13	2	3	1	2	0	2	1	4	2	3	2	2	1	1	2	2	1	3	5			TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr7:142983162G>T	ENST00000359333.3	+	2	625	c.112G>T	c.(112-114)Gtt>Ttt	p.V38F	TMEM139_ENST00000471161.1_Intron|TMEM139_ENST00000409102.1_Missense_Mutation_p.V38F|TMEM139_ENST00000410004.1_Missense_Mutation_p.V38F|CASP2_ENST00000310447.5_5'Flank|CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000409244.1_Missense_Mutation_p.V38F|TMEM139_ENST00000409541.1_Missense_Mutation_p.V38F|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	38						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CATCACCCCCGTTGCTTATTT	0.552																																							0											0													199	181	187					7																	142983162		2203	4300	6503	SO:0001583	missense	0			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.112G>T	7.37:g.142983162G>T	ENSP00000352284:p.Val38Phe		B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	NULL	p.V38F	ENST00000359333.3	37	c.112	CCDS5878.1	7	.	.	.	.	.	.	.	.	.	.	G	8.000	0.755178	0.15846	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	5.0	-0.397	0.12423	.	0.706432	0.12840	N	0.434871	T	0.28366	0.0701	L	0.29908	0.895	0.09310	N	1	P	0.36789	0.57	B	0.44133	0.442	T	0.25779	-1.0122	9	0.72032	D	0.01	-0.8864	4.5188	0.11949	0.2701:0.3085:0.4214:0.0	.	38	Q8IV31	TM139_HUMAN	F	38	.	ENSP00000352284:V38F	V	+	1	0	TMEM139	142693284	0.000000	0.05858	0.006000	0.13384	0.106000	0.19336	-0.200000	0.09478	0.006000	0.14734	-0.252000	0.11476	GTT	0	NULL		0.552	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM139	protein_coding	OTTHUMT00000327145.1	77	195	0	0.00	0	0	G	NM_153345	0	0		142983162	1	no_errors	ENST00000359333	ensembl	human	known	74_37	missense	43	102	40.28	39.77	29	68	SNP	0.004	T	T	142983162	G	T	142983162	3	4	23	1	0	0	0	0	1	0	0	0	16051	1145	40	5	114	5	TMEM139	7	142983162	Missense_Mutation	SNP	G	TCGA-4X-A9FA-01A-11D-A423-09	68836192	142983162	16155501	7	233											
UNC13B	10497	genome.wustl.edu	37	chr9	35377653	35377653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagtgaagcagagtgtactgGatggcacctccaaatggtca	12	8	12	9	0	1	2	1	1	0	1	2	3	2	3	2	3	2	3	2	3	3	1			TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr9:35377653G>C	ENST00000378495.3	+	15	1999	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H	UNC13B_ENST00000378496.4_Missense_Mutation_p.D593H|UNC13B_ENST00000396787.1_Missense_Mutation_p.D605H	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	593	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			GAGTGTACTGGATGGCACCTC	0.522																																							0											0													54	46	49					9																	35377653		2203	4300	6503	SO:0001583	missense	0			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.1777G>C	9.37:g.35377653G>C	ENSP00000367756:p.Asp593His		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.D593H	ENST00000378495.3	37	c.1777	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.094717	0.94149	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.63580	-0.05;-0.05;-0.05	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	T	0.74009	-0.3802	10	0.87932	D	0	-18.8428	20.4135	0.99023	0.0:0.0:1.0:0.0	.	593;593	F8W8M9;O14795	.;UN13B_HUMAN	H	605;593;593;180	ENSP00000380006:D605H;ENSP00000367756:D593H;ENSP00000367757:D593H	ENSP00000367756:D593H	D	+	1	0	UNC13B	35367653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.858000	0.99539	2.835000	0.97688	0.591000	0.81541	GAT	0	NULL		0.522	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	protein_coding	OTTHUMT00000052296.1	47	105	0	0.00	0	0	G	NM_006377	0	0		35377653	1	no_errors	ENST00000378496	ensembl	human	known	74_37	missense	21	53	25	41.30	7	38	SNP	1	C	C	35377653	G	C	35377653	3	2	23	1	0	0	0	0	1	0	0	0	16982	1174	41	5	1835	5	UNC13B	9	35377653	Missense_Mutation	SNP	G	TCGA-4X-A9FA-01A-11D-A423-09		35377653	105835778	8	234											
C10orf71	118461	genome.wustl.edu	37	chr10	50532900	50532900	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagtcagaaggatgagaaGgagaatgtgatgcggaagga	16	5	17	3	1	1	4	1	2	0	3	1	10	1	7	0	4	1	0	0	4	4	0			TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr10:50532900G>A	ENST00000374144.3	+	3	2598	c.2310G>A	c.(2308-2310)aaG>aaA	p.K770K	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	770										endometrium(1)	1						AGGATGAGAAGGAGAATGTGA	0.507																																							0											0													82	75	77					10																	50532900		692	1591	2283	SO:0001819	synonymous_variant	0			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.2310G>A	10.37:g.50532900G>A			A0AVL8	Silent	SNP	NULL	p.K770	ENST00000374144.3	37	c.2310	CCDS44387.1	10																																																																																			0	NULL		0.507	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	protein_coding	OTTHUMT00000047984.2	49	109	0	0.00	0	0	G	NM_199459	0	0		50532900	1	no_errors	ENST00000374144	ensembl	human	known	74_37	silent	18	70	37.93	24.47	11	23	SNP	0.725	A	A	50532900	G	A	50532900	2	1	23	1	0	0	0	0	0	0	0	1	1614	991	35	3		3	C10orf71	10	50532900	Silent	SNP	G	TCGA-4X-A9FA-01A-11D-A423-09		50532900	85001847	9	235											
DLG5	9231	genome.wustl.edu	37	chr10	79614094	79614094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacgcactggatcttcaGcctctcatagtcaggattca	9	11	8	13	2	5	0	4	0	2	0	7	2	5	2	1	2	1	2	1	2	1	3			TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr10:79614094G>C	ENST00000372391.2	-	4	576	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V	DLG5_ENST00000372388.2_Missense_Mutation_p.L191V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	191					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)			TGGATCTTCAGCCTCTCATAG	0.592																																							0											0													86	69	75					10																	79614094		2203	4300	6503	SO:0001583	missense	0			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.571C>G	10.37:g.79614094G>C	ENSP00000361467:p.Leu191Val		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	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.L191V	ENST00000372391.2	37	c.571	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942960	0.73672	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.59502	0.26;0.26	5.55	4.65	0.58169	.	0.000000	0.29198	N	0.012841	T	0.77772	0.4180	M	0.85462	2.755	0.38345	D	0.944179	D	0.76494	0.999	D	0.79108	0.992	D	0.83580	0.0117	10	0.72032	D	0.01	.	14.2423	0.65966	0.0715:0.0:0.9285:0.0	.	191	Q8TDM6	DLG5_HUMAN	V	191	ENSP00000361467:L191V;ENSP00000361464:L191V	ENSP00000361464:L191V	L	-	1	2	DLG5	79284100	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.157000	0.50716	1.352000	0.45808	0.655000	0.94253	CTG	0	pfam_DUF622		0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	protein_coding	OTTHUMT00000048900.2	28	72	0	0.00	0	0	G		0	0		79614094	-1	no_errors	ENST00000372391	ensembl	human	known	74_37	missense	16	46	41.38	30.30	12	20	SNP	1	C	C	79614094	G	C	79614094	3	2	23	1	0	0	0	0	1	0	0	0	4558	962	34	5	5304	5	DLG5	10	79614094	Missense_Mutation	SNP	G	TCGA-4X-A9FA-01A-11D-A423-09	29081194	79614094	55920653	10	236											
GLUD1	2746	genome.wustl.edu	37	chr10	88854216	88854216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcttgatgatccgcaggatgCcgcgcacccggttccgcttc	5	9	12	15	5	0	2	0	2	0	0	3	3	2	3	4	2	1	5	4	2	0	3			TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr10:88854216C>T	ENST00000277865.4	-	1	407	c.311G>A	c.(310-312)gGc>gAc	p.G104D	GLUD1_ENST00000544149.1_5'Flank|GLUD1_ENST00000537649.1_5'Flank|FAM35A_ENST00000298784.1_5'Flank|FAM35A_ENST00000298786.4_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	104					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	CCGCAGGATGCCGCGCACCCG	0.662																																							0											0													86	76	80					10																	88854216		2203	4300	6503	SO:0001583	missense	0			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.311G>A	10.37:g.88854216C>T	ENSP00000277865:p.Gly104Asp		B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.G104D	ENST00000277865.4	37	c.311	CCDS7382.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.300521	0.95601	.	.	ENSG00000148672	ENST00000277865;ENST00000513510	D	0.96885	-4.16	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	L	0.47716	1.5	0.80722	D	1	P	0.42993	0.797	P	0.59357	0.856	D	0.96473	0.9350	10	0.46703	T	0.11	.	14.8433	0.70240	0.0:1.0:0.0:0.0	.	104	P00367	DHE3_HUMAN	D	104;36	ENSP00000277865:G104D	ENSP00000277865:G104D	G	-	2	0	GLUD1	88844196	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.070000	0.76763	2.013000	0.59113	0.313000	0.20887	GGC	0	NULL		0.662	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	protein_coding	OTTHUMT00000049188.1	71	15	0	0.00	0	0	C	NM_005271	0	0		88854216	-1	no_errors	ENST00000277865	ensembl	human	known	74_37	missense	50	6	7.41	0.00	4	0	SNP	1	T	T	88854216	C	T	88854216	3	4	23	1	0	0	0	0	1	0	0	0	6476	739	26	3	1417	3	GLUD1	10	88854216	Missense_Mutation	SNP	C	TCGA-4X-A9FA-01A-11D-A423-09	9240122	88854216	46680531	11	237											
RIN1	9610	genome.wustl.edu	37	chr11	66101499	66101499	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagcagcttctggcgcacTtgctccaactctactgggga	7	10	11	13	1	2	0	0	0	2	0	3	1	3	1	1	3	6	5	1	3	2	3			TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr11:66101499T>C	ENST00000311320.4	-	7	1608	c.1482A>G	c.(1480-1482)caA>caG	p.Q494Q	RIN1_ENST00000424433.2_Silent_p.Q389Q|RIN1_ENST00000530056.1_Silent_p.Q328Q|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	494	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						TCTGGCGCACTTGCTCCAACT	0.701																																							0											0													12	9	10					11																	66101499		2145	4235	6380	SO:0001819	synonymous_variant	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1482A>G	11.37:g.66101499T>C			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.Q494	ENST00000311320.4	37	c.1482	CCDS31614.1	11																																																																																			0	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9		0.701	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	protein_coding	OTTHUMT00000392980.2	101	60	0	0.00	0	0	T	NM_004292	0	0		66101499	-1	no_errors	ENST00000311320	ensembl	human	known	74_37	silent	46	48	17.86	28.36	10	19	SNP	0.998	C	C	66101499	T	C	66101499	2	2	23	1	0	0	0	0	0	0	0	1	13371	1606	56	4		4	RIN1	11	66101499	Silent	SNP	T	TCGA-4X-A9FA-01A-11D-A423-09		66101499	68905017	12	238											
PRB2	653247	genome.wustl.edu	37	chr12	11546677	11546677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggctttcctggaggagatCggggacttcgggacttgtct	5	12	16	8	2	1	1	0	0	1	1	4	5	2	4	1	6	0	1	1	6	0	3	rs201144571	byFrequency	TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr12:11546677C>T	ENST00000389362.4	-	3	370	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	112	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)			TGGAGGAGATCGGGGACTTCG	0.607																																							0											0								C	GLN/ARG	3,4403		0,3,2200	334	354	347		335	-1.7	0	12		347	5,8595		0,5,4295	no	missense	PRB2	NM_006248.3	43	0,8,6495	TT,TC,CC		0.0581,0.0681,0.0615	benign	112/417	11546677	8,12998	2203	4300	6503	SO:0001583	missense	0			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.335G>A	12.37:g.11546677C>T	ENSP00000374013:p.Arg112Gln		O00599|P02811|P04281	Missense_Mutation	SNP	NULL	p.R112Q	ENST00000389362.4	37	c.335	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	6.039	0.375532	0.11409	6.81E-4	5.81E-4	ENSG00000121335	ENST00000389362	T	0.03745	3.82	1.17	-1.67	0.08238	.	.	.	.	.	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	1	B	0.27932	0.194	B	0.12156	0.007	T	0.48896	-0.8994	9	0.19147	T	0.46	.	4.8565	0.13563	0.0:0.3318:0.0:0.6682	.	112	P02812	PRB2_HUMAN	Q	112	ENSP00000374013:R112Q	ENSP00000374013:R112Q	R	-	2	0	PRB2	11437944	.	.	0.001000	0.08648	0.028000	0.11728	.	.	-0.353000	0.08224	0.123000	0.15791	CGA	0	NULL		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	protein_coding	OTTHUMT00000346925.2	135	0	0.7	0.00	1	0	C	NM_006248	rs201144571	C->T		11546677	-1	no_errors	ENST00000389362	ensembl	human	known	74_37	missense	236	0	10.82	0.00	29	0	SNP	0.023	T	T	11546677	C	T	11546677	3	4	23	1	0	0	0	0	1	0	0	0	12443	884	31	2	919	2	PRB2	12	11546677	Missense_Mutation	SNP	C	TCGA-4X-A9FA-01A-11D-A423-09		11546677	122305218	13	239											
ARHGAP5	394	genome.wustl.edu	37	chr14	32563307	32563307	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatagaacctcaaaaagTcatggggaacggaggccttc	13	8	11	9	1	3	2	2	1	1	1	4	4	3	4	2	4	2	0	2	4	5	2			TCGA-4X-A9FA-01A-11D-A423-09	TCGA-4X-A9FA-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3ee013e0-9818-421d-bce1-38fc71f63ad9	c4869f46-818c-485f-aa2b-690e81859d38	g.chr14:32563307T>G	ENST00000345122.3	+	2	3747	c.3432T>G	c.(3430-3432)agT>agG	p.S1144R	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.S1144R|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.S1144R|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.S1144R	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1144					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)		CCTCAAAAAGTCATGGGGAAC	0.348																																					NSCLC(9;77 350 3443 29227 41353)		0											0													53	56	55					14																	32563307		2203	4300	6503	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3432T>G	14.37:g.32563307T>G	ENSP00000371897:p.Ser1144Arg		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.S1144R	ENST00000345122.3	37	c.3432	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530880	0.27387	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.27	1.51	0.23008	.	0.500506	0.26156	N	0.026005	T	0.12817	0.0311	L	0.55481	1.735	0.43279	D	0.995245	P;B	0.36048	0.534;0.399	B;B	0.40741	0.339;0.273	T	0.04607	-1.0939	10	0.54805	T	0.06	.	8.7456	0.34585	0.0:0.3617:0.0:0.6383	.	1144;1144	Q13017-2;Q13017	.;RHG05_HUMAN	R	1144	ENSP00000452222:S1144R;ENSP00000441692:S1144R;ENSP00000371897:S1144R;ENSP00000393307:S1144R	ENSP00000371897:S1144R	S	+	3	2	ARHGAP5	31633058	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	0.501000	0.22578	0.382000	0.24878	0.383000	0.25322	AGT	0	NULL		0.348	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	protein_coding	OTTHUMT00000409735.1	77	206	0	0.00	0	0	T	NM_001030055	0	0		32563307	1	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	56	153	35.63	33.77	31	78	SNP	0.995	G	G	32563307	T	G	32563307	3	3	23	1	0	0	0	0	1	0	0	0	886	1664	58	5	3434	5	ARHGAP5	14	32563307	Missense_Mutation	SNP	T	TCGA-4X-A9FA-01A-11D-A423-09		32563307	74786233	14	240											
TTBK1	84630	genome.wustl.edu	37	chr6	43250761	43250761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaggaagaggaggaggaAgaagaggaggaggaggaaga	19	0	22	0	0	0	5	0	0	0	5	0	14	0	13	0	8	0	0	0	8	5	0	rs149959476		TCGA-4X-A9FB-01A-11D-A423-09	TCGA-4X-A9FB-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89ac5d8c-66b0-4dec-920b-407632a9d178	eb52e396-3ff3-45c7-984b-edcc338fd972	g.chr6:43250761A>G	ENST00000259750.4	+	14	2366	c.2283A>G	c.(2281-2283)gaA>gaG	p.E761E		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	761	Glu-rich.				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)			aggaggaggaagaagaggagg	0.582																																							0											0								G		1,4401		0,1,2200	15	14	15		2283	-5.9	0.1	6	dbSNP_134	15	0,8592		0,0,4296	no	coding-synonymous	TTBK1	NM_032538.1		0,1,6496	GG,GA,AA		0.0,0.0227,0.0077		761/1322	43250761	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2283A>G	6.37:g.43250761A>G			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	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.E761	ENST00000259750.4	37	c.2283	CCDS34455.1	6																																																																																			0	NULL		0.582	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	protein_coding	OTTHUMT00000040584.3	14	1	0	0.00	0	0	A		rs149959476	A->G		43250761	1	no_errors	ENST00000259750	ensembl	human	known	74_37	silent	26	0	10.34	0.00	3	0	SNP	0.932	G	G	43250761	A	G	43250761	2	3	24	1	0	0	0	0	0	0	0	1	16673	69	3	4		4	TTBK1	6	43250761	Silent	SNP	A	TCGA-4X-A9FB-01A-11D-A423-09		43250761	127864306	1	241											
BCL11B	64919	genome.wustl.edu	37	chr14	99642416	99642416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgagctgctggccggccCgggctccaggtagatgcgga	6	5	18	12	4	0	1	0	0	0	1	1	4	1	2	3	5	4	4	3	5	1	1			TCGA-4X-A9FB-01A-11D-A423-09	TCGA-4X-A9FB-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	89ac5d8c-66b0-4dec-920b-407632a9d178	eb52e396-3ff3-45c7-984b-edcc338fd972	g.chr14:99642416C>A	ENST00000357195.3	-	4	766	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	BCL11B_ENST00000345514.2_Missense_Mutation_p.G182W|BCL11B_ENST00000443726.2_Missense_Mutation_p.G59W	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	253					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)		CTGGCCGGCCCGGGCTCCAGG	0.677			T	TLX3	T-ALL																																		0		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													15	18	17					14																	99642416		2192	4282	6474	SO:0001583	missense	0			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.757G>T	14.37:g.99642416C>A	ENSP00000349723:p.Gly253Trp		Q9H162	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G253W	ENST00000357195.3	37	c.757	CCDS9950.1	14	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277447	0.59758	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.11063	2.82;2.83;2.81	4.68	3.52	0.40303	.	0.153417	0.38605	N	0.001627	T	0.11793	0.0287	N	0.14661	0.345	0.34235	D	0.676927	D;D	0.76494	0.988;0.999	D;D	0.69307	0.926;0.963	T	0.18587	-1.0332	10	0.37606	T	0.19	-15.9674	3.4539	0.07509	0.0:0.6018:0.0:0.3982	.	182;253	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	W	253;182;59	ENSP00000349723:G253W;ENSP00000280435:G182W;ENSP00000387419:G59W	ENSP00000280435:G182W	G	-	1	0	BCL11B	98712169	0.997000	0.39634	1.000000	0.80357	0.946000	0.59487	2.598000	0.46223	2.323000	0.78572	0.655000	0.94253	GGG	0	NULL		0.677	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL11B	protein_coding	OTTHUMT00000072332.2	30	26	0	0.00	0	0	C	NM_138576	0	0		99642416	-1	no_errors	ENST00000357195	ensembl	human	known	74_37	missense	15	14	16.67	12.50	3	2	SNP	0.993	A	A	99642416	C	A	99642416	3	1	24	1	0	0	0	0	1	0	0	0	1364	652	23	5	1931	5	BCL11B	14	99642416	Missense_Mutation	SNP	C	TCGA-4X-A9FB-01A-11D-A423-09		99642416	7707124	2	242											
FAM108A1	81926	genome.wustl.edu	37	chr19	1881347	1881347	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtactggaagtcggcAcgctccgtcaggtgcagctt	6	10	14	11	3	1	0	1	0	0	0	3	1	2	1	1	4	3	6	1	4	2	2			TCGA-4X-A9FB-01A-11D-A423-09	TCGA-4X-A9FB-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89ac5d8c-66b0-4dec-920b-407632a9d178	eb52e396-3ff3-45c7-984b-edcc338fd972	g.chr19:1881347A>G	ENST00000292577.7	-	2	652	c.219T>C	c.(217-219)cgT>cgC	p.R73R	ABHD17A_ENST00000250974.9_Silent_p.R73R|ABHD17A_ENST00000590661.1_Silent_p.R73R	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	73						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGAAGTCGGCACGCTCCGTCA	0.716																																							0											0													19	22	21					19																	1881347		2188	4262	6450	SO:0001819	synonymous_variant	0			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.219T>C	19.37:g.1881347A>G			A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	pfam_Dienelactn_hydro	p.R73	ENST00000292577.7	37	c.219	CCDS45902.1	19																																																																																			0	NULL		0.716	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	protein_coding	OTTHUMT00000415556.2	71	9	0	0.00	0	0	A	NM_031213	0	0		1881347	-1	no_errors	ENST00000250974	ensembl	human	known	74_37	silent	50	4	19.35	0.00	12	0	SNP	0.521	G	G	1881347	A	G	1881347	2	3	24	1	0	0	0	0	0	0	0	1	5391	146	6	3		3	FAM108A1	19	1881347	Silent	SNP	A	TCGA-4X-A9FB-01A-11D-A423-09		1881347	57247636	3	243											
POTEH	23784	genome.wustl.edu	37	chr22	16277842	16277842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcaagtagaaggctgaCtatacttgccgatccacaac	12	10	8	11	1	1	2	1	1	0	1	2	3	2	2	2	1	4	3	2	1	6	5	rs200138043	byFrequency	TCGA-4X-A9FB-01A-11D-A423-09	TCGA-4X-A9FB-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	89ac5d8c-66b0-4dec-920b-407632a9d178	eb52e396-3ff3-45c7-984b-edcc338fd972	g.chr22:16277842C>T	ENST00000343518.6	-	5	1123	c.1072G>A	c.(1072-1074)Gtc>Atc	p.V358I	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	358										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AGAAGGCTGACTATACTTGCC	0.363																																							0											0													3	2	3					22																	16277842		413	840	1253	SO:0001583	missense	0			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.1072G>A	22.37:g.16277842C>T	ENSP00000340610:p.Val358Ile		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.V358I	ENST00000343518.6	37	c.1072	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	11.32	1.605321	0.28623	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.69685	-0.42	0.887	0.887	0.19200	Ankyrin repeat-containing domain (4);	0.760974	0.10024	U	0.725571	T	0.67505	0.2900	L	0.31578	0.945	0.09310	N	1	P;D	0.71674	0.941;0.998	P;D	0.80764	0.815;0.994	T	0.54316	-0.8312	10	0.46703	T	0.11	.	5.178	0.15145	0.0:1.0:0.0:0.0	.	358;321	Q6S545;A6NKF6	POTEH_HUMAN;.	I	321;358	ENSP00000340610:V358I	ENSP00000340610:V358I	V	-	1	0	POTEH	14657842	0.223000	0.23663	0.038000	0.18304	0.074000	0.17049	1.024000	0.30077	0.789000	0.33779	0.175000	0.17021	GTC	0	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.363	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	protein_coding	OTTHUMT00000276918.4	52	0	1.89	0.00	1	0	C	NM_001136213	rs200138043	C->T		16277842	-1	no_errors	ENST00000343518	ensembl	human	known	74_37	missense	57	0	10.94	0.00	7	0	SNP	0.059	T	T	16277842	C	T	16277842	3	4	24	1	0	0	0	0	1	0	0	0	12267	565	20	3	589	3	POTEH	22	16277842	Missense_Mutation	SNP	C	TCGA-4X-A9FB-01A-11D-A423-09		16277842	35026724	4	244											
CYB5RL	606495	genome.wustl.edu	37	chr1	54649868	54649868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaagaaatctccgaaaggtCctcgccagaaagctgtgtct	13	8	10	10	2	2	3	0	0	2	3	5	4	3	3	3	1	1	1	3	1	4	0			TCGA-4X-A9FC-01A-11D-A423-09	TCGA-4X-A9FC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	74eec9b6-c99e-4733-b870-92498834fe39	00b687bc-8abf-4f6c-8e46-35094fb9c62b	g.chr1:54649868C>T	ENST00000534324.1	-	4	505	c.506G>A	c.(505-507)gGa>gAa	p.G169E	MRPL37_ENST00000487096.1_3'UTR|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G169E|CYB5RL_ENST00000401046.3_Missense_Mutation_p.G21E|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G169E|RP11-446E24.4_ENST00000311841.7_3'UTR|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G169E|CYB5RL_ENST00000419823.2_Missense_Mutation_p.G169E			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	169	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.						cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCCGAAAGGTCCTCGCCAGAA	0.512																																							0											0													67	68	67					1																	54649868		2004	4168	6172	SO:0001583	missense	0				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.506G>A	1.37:g.54649868C>T	ENSP00000434343:p.Gly169Glu		B7ZBS4|Q8NF25	Missense_Mutation	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.G169E	ENST00000534324.1	37	c.506	CCDS44151.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152642	0.78001	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208;ENST00000493530	D;D;D;D;D;D;D	0.97232	-3.15;-4.3;-3.15;-3.15;-3.15;-3.15;-2.54	4.71	4.71	0.59529	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.000000	0.31450	U	0.007637	D	0.98689	0.9560	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99560	1.0968	10	0.72032	D	0.01	-7.1576	16.0123	0.80411	0.0:1.0:0.0:0.0	.	169	Q6IPT4	NB5R5_HUMAN	E	169;21;169;169;169;169;83	ENSP00000409075:G169E;ENSP00000383825:G21E;ENSP00000434343:G169E;ENSP00000287899:G169E;ENSP00000438151:G169E;ENSP00000443797:G169E;ENSP00000434606:G83E	ENSP00000287899:G169E	G	-	2	0	CYB5RL	54422456	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.062000	0.64326	2.425000	0.82216	0.555000	0.69702	GGA	0	pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase		0.512	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CYB5RL	protein_coding	OTTHUMT00000388318.1	59	250	0	0.00	0	0	C	NM_001031672	0	0		54649868	-1	no_errors	ENST00000419823	ensembl	human	known	74_37	missense	60	202	7.69	4.72	5	10	SNP	1	T	T	54649868	C	T	54649868	3	4	25	1	0	0	0	0	1	0	0	0	4130	855	30	3	453	3	CYB5RL	1	54649868	Missense_Mutation	SNP	C	TCGA-4X-A9FC-01A-11D-A423-09		54649868	194600753	1	245											
MUC16	94025	genome.wustl.edu	37	chr19	9091798	9091798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaagatgacccaggaaggCctgagggtttcagcatggac	12	6	15	8	0	1	4	1	2	0	2	1	7	1	6	2	4	1	2	2	4	2	1	rs374211611		TCGA-4X-A9FC-01A-11D-A423-09	TCGA-4X-A9FC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	74eec9b6-c99e-4733-b870-92498834fe39	00b687bc-8abf-4f6c-8e46-35094fb9c62b	g.chr19:9091798C>T	ENST00000397910.4	-	1	220	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6					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						CCCAGGAAGGCCTGAGGGTTT	0.557																																							0											0								C	ASP/GLY	0,3952		0,0,1976	58	55	56		17	0.3	0	19		56	1,8303		0,1,4151	no	missense	MUC16	NM_024690.2	94	0,1,6127	TT,TC,CC		0.012,0.0,0.0082	benign	6/14508	9091798	1,12255	1976	4152	6128	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17G>A	19.37:g.9091798C>T	ENSP00000381008:p.Gly6Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.G6D	ENST00000397910.4	37	c.17	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	2.643	-0.283785	0.05642	0.0	1.2E-4	ENSG00000181143	ENST00000397910	T	0.03553	3.89	1.35	0.283	0.15696	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	.	.	.	B	0.34255	0.445	B	0.27170	0.077	T	0.43130	-0.9410	8	0.87932	D	0	.	3.5745	0.07929	0.0:0.7373:0.0:0.2627	.	6	B5ME49	.	D	6	ENSP00000381008:G6D	ENSP00000381008:G6D	G	-	2	0	MUC16	8952798	0.060000	0.20803	0.006000	0.13384	0.091000	0.18340	0.238000	0.18004	0.151000	0.19162	0.313000	0.20887	GGC	0	NULL		0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	44	159	0	0.00	0	0	C	NM_024690	rs374211611	C->T		9091798	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	48	144	11.11	4.61	6	7	SNP	0.006	T	T	9091798	C	T	9091798	3	4	25	1	0	0	0	0	1	0	0	0	9973	739	26	3	43842	3	MUC16	19	9091798	Missense_Mutation	SNP	C	TCGA-4X-A9FC-01A-11D-A423-09		9091798	50037185	2	246											
KIR2DL3	3804	genome.wustl.edu	37	chr19	55255454	55255454	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgccacccacggaggAacctacagatgcttcggctc	8	6	11	16	2	0	1	0	0	0	1	2	3	0	3	4	4	4	2	4	4	2	2	rs201431907	byFrequency	TCGA-4X-A9FC-01A-11D-A423-09	TCGA-4X-A9FC-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	74eec9b6-c99e-4733-b870-92498834fe39	00b687bc-8abf-4f6c-8e46-35094fb9c62b	g.chr19:55255454A>G	ENST00000342376.3	+	4	613	c.582A>G	c.(580-582)ggA>ggG	p.G194G	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Silent_p.G194G|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	194	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCCACGGAGGAACCTACAGAT	0.577																																							0											0													4	5	5					19																	55255454		803	1807	2610	SO:0001819	synonymous_variant	0			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.582A>G	19.37:g.55255454A>G			O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.G194	ENST00000342376.3	37	c.582	CCDS33107.1	19																																																																																			0	pfam_Immunoglobulin,smart_Ig_sub		0.577	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	protein_coding	OTTHUMT00000141150.1	14	0	0	0.00	0	0	A		rs201431907	A->G		55255454	1	no_errors	ENST00000434419	ensembl	human	known	74_37	silent	13	0	38.1	0.00	8	0	SNP	0	G	G	55255454	A	G	55255454	2	3	25	1	0	0	0	0	0	0	0	1	8317	233	9	3		3	KIR2DL3	19	55255454	Silent	SNP	A	TCGA-4X-A9FC-01A-11D-A423-09	46163656	55255454	3873529	3	247											
UPRT	139596	genome.wustl.edu	37	chrX	74494112	74494112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacggagttacagtgtcCggactccatgccctgtcaca	8	8	11	14	2	1	0	1	0	0	0	3	2	3	2	4	3	2	1	4	3	1	1			TCGA-4X-A9FC-01A-11D-A423-09	TCGA-4X-A9FC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	74eec9b6-c99e-4733-b870-92498834fe39	00b687bc-8abf-4f6c-8e46-35094fb9c62b	g.chrX:74494112C>T	ENST00000373383.4	+	1	190	c.23C>T	c.(22-24)cCg>cTg	p.P8L	UPRT_ENST00000373379.1_Missense_Mutation_p.P8L|UPRT_ENST00000530743.1_5'Flank|UPRT_ENST00000531704.1_3'UTR	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	8					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						TTACAGTGTCCGGACTCCATG	0.582																																							0											0													42	37	39					X																	74494112		2203	4300	6503	SO:0001583	missense	0			BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.23C>T	X.37:g.74494112C>T	ENSP00000362481:p.Pro8Leu		Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	pfam_PRibTrfase_dom	p.P8L	ENST00000373383.4	37	c.23	CCDS14429.1	X	.	.	.	.	.	.	.	.	.	.	C	6.181	0.401600	0.11696	.	.	ENSG00000094841	ENST00000373383;ENST00000373379	.	.	.	4.97	-0.304	0.12788	.	1.118190	0.06799	N	0.788338	T	0.15998	0.0385	N	0.14661	0.345	0.09310	N	0.999994	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.002	T	0.23797	-1.0178	9	0.02654	T	1	0.0014	3.8845	0.09093	0.165:0.4106:0.0:0.4244	.	8;8;8	Q96BW1-2;A8KAF9;Q96BW1	.;.;UPP_HUMAN	L	8	.	ENSP00000362471:P8L	P	+	2	0	UPRT	74410837	0.001000	0.12720	0.003000	0.11579	0.034000	0.12701	-0.574000	0.05868	-0.134000	0.11516	-0.380000	0.06706	CCG	0	NULL		0.582	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPRT	protein_coding	OTTHUMT00000057278.1	69	188	0	0.00	0	0	C	NM_145052	0	0		74494112	1	no_errors	ENST00000373383	ensembl	human	known	74_37	missense	86	181	8.51	4.19	8	8	SNP	0.002	T	T	74494112	C	T	74494112	3	4	25	1	0	0	0	0	1	0	0	0	17011	652	23	2	25	2	UPRT	23	74494112	Missense_Mutation	SNP	C	TCGA-4X-A9FC-01A-11D-A423-09		74494112	80776448	4	248											
GRIK3	2899	genome.wustl.edu	37	chr1	37307518	37307518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcgtcctgtctgatttcCgaaacatgacgaagggctcc	10	10	10	11	3	1	2	0	2	1	0	4	4	4	2	3	1	2	1	3	1	3	2	rs115314874		TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr1:37307518C>T	ENST00000373091.3	-	10	1365	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	GRIK3_ENST00000373093.4_Missense_Mutation_p.R450Q	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	450					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			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)				GTCTGATTTCCGAAACATGAC	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		20688	0		0	False		,,,				2504	0						0.9998,0.0001997											0													144	133	137					1																	37307518		2203	4300	6503	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1349G>A	1.37:g.37307518C>T	ENSP00000362183:p.Arg450Gln		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.R450Q	ENST00000373091.3	37	c.1349	CCDS416.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.88	2.666942	0.47677	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11385	2.78;2.78	4.95	4.04	0.47022	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.063724	0.64402	D	0.000006	T	0.09158	0.0226	L	0.49778	1.585	0.35636	D	0.810568	D;D	0.54964	0.969;0.969	B;B	0.37888	0.26;0.26	T	0.22521	-1.0214	10	0.87932	D	0	.	6.7645	0.23558	0.0:0.6987:0.1456:0.1557	.	450;450	A9Z1Z8;Q13003	.;GRIK3_HUMAN	Q	450	ENSP00000362183:R450Q;ENSP00000362185:R450Q	ENSP00000362183:R450Q	R	-	2	0	GRIK3	37080105	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	3.565000	0.53798	1.207000	0.43291	0.655000	0.94253	CGG	0	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.572	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	protein_coding	OTTHUMT00000012053.1	80	266	0	0.00	0	0	C	NM_000831	rs115314874	C->T		37307518	-1	no_errors	ENST00000373091	ensembl	human	known	74_37	missense	31	110	11.43	16.03	4	21	SNP	1	T	T	37307518	C	T	37307518	3	4	26	1	0	0	0	0	1	0	0	0	6775	652	23	2	1438	2	GRIK3	1	37307518	Missense_Mutation	SNP	C	TCGA-4X-A9FD-01A-11D-A423-09		37307518	211943103	1	249											
FMOD	2331	genome.wustl.edu	37	chr1	203316722	203316722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataactcaggtccagcaagAtcagtgaccggaggcccctc	11	7	10	13	1	2	2	2	1	0	1	4	3	3	3	4	3	2	1	4	3	3	2			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr1:203316722A>G	ENST00000354955.4	-	2	1140	c.677T>C	c.(676-678)aTc>aCc	p.I226T	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	226				I -> Y (in Ref. 1; CAA51418). {ECO:0000305}.	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)			GTCCAGCAAGATCAGTGACCG	0.552																																							0											0													94	91	92					1																	203316722		2203	4300	6503	SO:0001583	missense	0			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.677T>C	1.37:g.203316722A>G	ENSP00000347041:p.Ile226Thr		Q15331|Q8IV47	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.I226T	ENST00000354955.4	37	c.677	CCDS30976.1	1	.	.	.	.	.	.	.	.	.	.	A	8.349	0.830574	0.16820	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.54071	0.59	5.18	5.18	0.71444	.	0.116585	0.64402	D	0.000012	T	0.26882	0.0658	N	0.02357	-0.585	0.36266	D	0.854835	B	0.22604	0.072	B	0.18871	0.023	T	0.28870	-1.0030	10	0.18710	T	0.47	-15.0475	13.8772	0.63660	1.0:0.0:0.0:0.0	.	226	Q06828	FMOD_HUMAN	T	213;226	ENSP00000347041:I226T	ENSP00000347041:I226T	I	-	2	0	FMOD	201583345	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.058000	0.57463	1.956000	0.56807	0.533000	0.62120	ATC	0	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.552	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	protein_coding	OTTHUMT00000087472.1	50	208	0	0.00	0	0	A	NM_002023	0	0		203316722	-1	no_errors	ENST00000354955	ensembl	human	known	74_37	missense	27	106	10	13.82	3	17	SNP	0.999	G	G	203316722	A	G	203316722	3	3	26	1	0	0	0	0	1	0	0	0	5959	333	12	3	461	3	FMOD	1	203316722	Missense_Mutation	SNP	A	TCGA-4X-A9FD-01A-11D-A423-09	166009204	203316722	45933899	2	250											
GALNT14	79623	genome.wustl.edu	37	chr2	31147089	31147089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggcacttctgtctctGtcggatattgcccttctgga	5	15	9	12	1	3	0	0	0	3	0	6	2	4	2	2	3	1	1	2	3	1	5			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr2:31147089G>C	ENST00000349752.5	-	13	1915	c.1276C>G	c.(1276-1278)Cag>Gag	p.Q426E	GALNT14_ENST00000356174.3_Missense_Mutation_p.Q393E|GALNT14_ENST00000420311.2_Missense_Mutation_p.Q391E|GALNT14_ENST00000406653.1_Missense_Mutation_p.Q406E|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000324589.5_Missense_Mutation_p.Q431E	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	426	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)					TTCTGTCTCTGTCGGATATTG	0.517																																							0											0													249	229	236					2																	31147089		2203	4300	6503	SO:0001583	missense	0			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.1276C>G	2.37:g.31147089G>C	ENSP00000288988:p.Gln426Glu		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.Q426E	ENST00000349752.5	37	c.1276	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440229	0.63067	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.61627	1.76;1.76;1.76;1.76;1.76;0.09	4.84	4.84	0.62591	Ricin B-related lectin (1);Ricin B lectin (3);	1.162510	0.06425	N	0.723093	T	0.81828	0.4905	M	0.85945	2.785	0.80722	D	1	D;D;P;D;D	0.89917	0.999;0.99;0.66;1.0;0.998	D;D;B;D;D	0.77004	0.965;0.979;0.208;0.98;0.989	T	0.74785	-0.3547	10	0.66056	D	0.02	.	17.9725	0.89117	0.0:0.0:1.0:0.0	.	391;393;431;426;406	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	E	426;431;406;393;391;393	ENSP00000288988:Q426E;ENSP00000314500:Q431E;ENSP00000385435:Q406E;ENSP00000348497:Q393E;ENSP00000415514:Q391E;ENSP00000406399:Q393E	ENSP00000314500:Q431E	Q	-	1	0	GALNT14	31000593	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.883000	0.87264	2.234000	0.73211	0.563000	0.77884	CAG	0	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.517	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	protein_coding	OTTHUMT00000157264.1	127	340	0	0.00	0	0	G	NM_024572	0	0		31147089	-1	no_errors	ENST00000349752	ensembl	human	known	74_37	missense	75	173	9.64	18.69	8	40	SNP	1	C	C	31147089	G	C	31147089	3	2	26	1	0	0	0	0	1	0	0	0	6212	1386	48	5	394	5	GALNT14	2	31147089	Missense_Mutation	SNP	G	TCGA-4X-A9FD-01A-11D-A423-09		31147089	212052284	3	251											
DMXL1	1657	genome.wustl.edu	37	chr5	118580208	118580209	+	Frame_Shift_Del	DEL	AG	AG	-																															agccatgattctcctgttaaAgccgttgctgttgatccaac																										TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr5:118580208_118580209delAG	ENST00000311085.8	+	42	8876_8877	c.8796_8797delAG	c.(8794-8799)aaagccfs	p.KA2932fs	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Frame_Shift_Del_p.KA2953fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2932										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)		CTCCTGTTAAAGCCGTTGCTGT	0.401																																							0											0																																										SO:0001589	frameshift_variant	0			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.8796_8797delAG	5.37:g.118580208_118580209delAG	ENSP00000309690:p.Lys2932fs			Frame_Shift_Del	DEL	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K2953fs	ENST00000311085.8	37	c.8859_8860	CCDS4125.1	5																																																																																			0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.401	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	protein_coding	OTTHUMT00000250862.1	112	393	0	0.00	0	0	AG	NM_005509	0	0		118580209	1	no_errors	ENST00000539542	ensembl	human	known	74_37	frame_shift_del	103	245	10.43	11.55	12	32	DEL	1.000:1.000	0	-	118580209	AG	-	118580208	7	5	26	1	0	1	0	1	0	0	0	0	4594	69	3	0	8962	0	DMXL1	5	118580208	Frame_Shift_Del	DEL	AG	TCGA-4X-A9FD-01A-11D-A423-09		118580208	62335052	4	252											
DOCK2	1794	genome.wustl.edu	37	chr5	169477375	169477375	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacctctgccccgggagAtgatgtgaagaatgccccag	10	6	11	14	1	1	4	0	2	1	2	1	5	1	4	6	1	2	0	6	1	2	0			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr5:169477375A>T	ENST00000256935.8	+	41	4267	c.4187A>T	c.(4186-4188)gAt>gTt	p.D1396V	DOCK2_ENST00000520908.1_Missense_Mutation_p.D888V|DOCK2_ENST00000540750.1_Missense_Mutation_p.D457V|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1396	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)			GCCCCGGGAGATGATGTGAAG	0.572																																							0											0													118	110	113					5																	169477375		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4187A>T	5.37:g.169477375A>T	ENSP00000256935:p.Asp1396Val		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.D1396V	ENST00000256935.8	37	c.4187	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205261	0.39003	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10192	3.54;3.18;2.9	5.51	5.51	0.81932	.	0.236404	0.42172	D	0.000758	T	0.12817	0.0311	L	0.55743	1.74	0.80722	D	1	P;B	0.35401	0.499;0.281	B;B	0.31337	0.128;0.128	T	0.02885	-1.1098	10	0.40728	T	0.16	.	15.6344	0.76941	1.0:0.0:0.0:0.0	.	888;1396	E7ERW7;Q92608	.;DOCK2_HUMAN	V	1396;888;457	ENSP00000256935:D1396V;ENSP00000429283:D888V;ENSP00000438827:D457V	ENSP00000256935:D1396V	D	+	2	0	DOCK2	169409953	1.000000	0.71417	0.267000	0.24556	0.171000	0.22731	9.339000	0.96797	2.105000	0.64084	0.533000	0.62120	GAT	0	NULL		0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	85	199	0	0.00	0	0	A	NM_004946	0	0		169477375	1	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	60	116	17.81	5.69	13	7	SNP	0.999	T	T	169477375	A	T	169477375	3	4	26	1	0	0	0	0	1	0	0	0	4687	333	12	5	4349	5	DOCK2	5	169477375	Missense_Mutation	SNP	A	TCGA-4X-A9FD-01A-11D-A423-09	50897167	169477375	11437885	5	253											
ZNF318	24149	genome.wustl.edu	37	chr6	43308114	43308114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctttcttctcctcctttgGtttctcactaagtttgcgct	3	21	5	12	1	4	0	1	0	4	0	7	0	5	0	2	1	1	3	2	1	1	7			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr6:43308114G>T	ENST00000361428.2	-	10	3699	c.3622C>A	c.(3622-3624)Cca>Aca	p.P1208T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1208	Lys-rich.				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)			TCCTCCTTTGGTTTCTCACTA	0.498																																							0											0													127	132	130					6																	43308114		2203	4300	6503	SO:0001583	missense	0			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.3622C>A	6.37:g.43308114G>T	ENSP00000354964:p.Pro1208Thr		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.P1208T	ENST00000361428.2	37	c.3622	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132700	0.37630	.	.	ENSG00000171467	ENST00000361428	T	0.45668	0.89	5.69	3.91	0.45181	.	0.578573	0.18353	N	0.143813	T	0.28566	0.0707	L	0.32530	0.975	0.80722	D	1	D	0.56746	0.977	P	0.55923	0.787	T	0.05321	-1.0892	10	0.40728	T	0.16	-0.5897	7.6864	0.28542	0.1426:0.1348:0.7226:0.0	.	1208	Q5VUA4	ZN318_HUMAN	T	1208	ENSP00000354964:P1208T	ENSP00000354964:P1208T	P	-	1	0	ZNF318	43416092	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.456000	0.35201	0.752000	0.32923	0.655000	0.94253	CCA	0	NULL		0.498	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	protein_coding	OTTHUMT00000040601.2	62	243	0	0.00	0	0	G	NM_014345	0	0		43308114	-1	no_errors	ENST00000361428	ensembl	human	known	74_37	missense	50	136	15.25	13.38	9	21	SNP	1	T	T	43308114	G	T	43308114	3	4	26	1	0	0	0	0	1	0	0	0	17833	1261	44	5	3221	5	ZNF318	6	43308114	Missense_Mutation	SNP	G	TCGA-4X-A9FD-01A-11D-A423-09		43308114	127806953	6	254											
MYST3	7994	genome.wustl.edu	37	chr8	41798719	41798719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatattgttcctgaggagCtgaagacgtctcttccaaga	10	12	9	10	1	1	4	0	2	1	2	5	5	4	5	3	1	1	2	3	1	3	4			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr8:41798719C>A	ENST00000396930.3	-	16	3223	c.2680G>T	c.(2680-2682)Gct>Tct	p.A894S	KAT6A_ENST00000265713.2_Missense_Mutation_p.A894S|KAT6A_ENST00000406337.1_Missense_Mutation_p.A894S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	894					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)										TCCTGAGGAGCTGAAGACGTC	0.507																																							0											0													83	78	80					8																	41798719		2203	4300	6503	SO:0001583	missense	0			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.2680G>T	8.37:g.41798719C>A	ENSP00000380136:p.Ala894Ser		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.A894S	ENST00000396930.3	37	c.2680	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	5.164	0.215767	0.09810	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.59364	0.27;0.27;0.27	5.56	-5.26	0.02772	.	1.084520	0.07020	N	0.826715	T	0.40094	0.1103	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.41805	-0.9488	10	0.12103	T	0.63	-0.2878	16.3728	0.83370	0.0:0.3162:0.0:0.6838	.	894	Q92794	KAT6A_HUMAN	S	894;894;894;474	ENSP00000265713:A894S;ENSP00000385888:A894S;ENSP00000380136:A894S	ENSP00000265713:A894S	A	-	1	0	KAT6A	41917876	0.000000	0.05858	0.006000	0.13384	0.275000	0.26752	-1.768000	0.01794	-1.761000	0.01310	-0.150000	0.13652	GCT	0	NULL		0.507	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	protein_coding	OTTHUMT00000318163.1	91	289	0	0.00	0	0	C	NM_006766	0	0		41798719	-1	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	60	155	14.29	17.55	10	33	SNP	0.004	A	A	41798719	C	A	41798719	3	1	26	1	0	0	0	0	1	0	0	0	10104	797	28	5	3346	5	MYST3	8	41798719	Missense_Mutation	SNP	C	TCGA-4X-A9FD-01A-11D-A423-09		41798719	104565303	7	255											
RHPN1	114822	genome.wustl.edu	37	chr8	144464787	144464787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccagtgaagccagctcCgccctcatccttgaagcacc	8	7	8	18	1	1	2	1	2	0	0	3	2	3	2	7	0	4	2	7	0	2	1			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr8:144464787C>T	ENST00000289013.6	+	15	2080	c.1979C>T	c.(1978-1980)cCg>cTg	p.P660L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	685					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)			AAGCCAGCTCCGCCCTCATCC	0.697																																							0											0													26	33	31					8																	144464787		2068	4199	6267	SO:0001583	missense	0			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.1979C>T	8.37:g.144464787C>T	ENSP00000289013:p.Pro660Leu		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.P660L	ENST00000289013.6	37	c.1979	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	C	2.895	-0.228818	0.06022	.	.	ENSG00000158106	ENST00000289013	T	0.51071	0.72	2.61	-5.23	0.02798	.	.	.	.	.	T	0.22513	0.0543	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21008	-1.0258	9	0.37606	T	0.19	.	10.8187	0.46591	0.0:0.6003:0.2658:0.1339	.	660	Q8TCX5-2	.	L	660	ENSP00000289013:P660L	ENSP00000289013:P660L	P	+	2	0	RHPN1	144535930	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.274000	0.08537	-2.718000	0.00390	-1.587000	0.00848	CCG	0	NULL		0.697	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	protein_coding	OTTHUMT00000381417.1	45	41	0	0.00	0	0	C		0	0		144464787	1	no_errors	ENST00000289013	ensembl	human	known	74_37	missense	20	37	16.67	9.76	4	4	SNP	0	T	T	144464787	C	T	144464787	3	4	26	1	0	0	0	0	1	0	0	0	13350	652	23	2	2037	2	RHPN1	8	144464787	Missense_Mutation	SNP	C	TCGA-4X-A9FD-01A-11D-A423-09	102666068	144464787	1899235	8	256											
SLC44A1	23446	genome.wustl.edu	37	chr9	108125217	108125217	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctagtcttccaaccctTctggactttctttgctcttg	5	17	6	13	0	4	0	0	0	4	0	5	1	5	1	2	1	3	2	2	1	2	6			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr9:108125217T>G	ENST00000374720.3	+	9	1263	c.1016T>G	c.(1015-1017)tTc>tGc	p.F339C	SLC44A1_ENST00000343170.7_Missense_Mutation_p.F131C|SLC44A1_ENST00000374723.1_Missense_Mutation_p.F339C|SLC44A1_ENST00000374724.1_Missense_Mutation_p.F339C	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	339					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)	TTCCAACCCTTCTGGACTTTC	0.443																																							0											0													361	307	325					9																	108125217		2203	4300	6503	SO:0001583	missense	0			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.1016T>G	9.37:g.108125217T>G	ENSP00000363852:p.Phe339Cys		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.F339C	ENST00000374720.3	37	c.1016	CCDS6763.1	9	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440052	0.83993	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.73	5.73	0.89815	.	0.043242	0.85682	D	0.000000	T	0.43545	0.1252	L	0.52573	1.65	0.54753	D	0.999982	D;D;D	0.63880	0.99;0.99;0.993	P;P;P	0.60789	0.879;0.879;0.87	T	0.32188	-0.9916	10	0.87932	D	0	-1.8888	16.3135	0.82905	0.0:0.0:0.0:1.0	.	339;339;339	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	C	339;339;339;131	ENSP00000363855:F339C;ENSP00000363852:F339C;ENSP00000363856:F339C;ENSP00000341856:F131C	ENSP00000341856:F131C	F	+	2	0	SLC44A1	107165038	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.595000	0.82710	2.313000	0.78055	0.519000	0.50382	TTC	0	pfam_Choline_transptr-like		0.443	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	protein_coding	OTTHUMT00000053500.1	149	436	0	0.00	0	0	T	NM_080546	0	0		108125217	1	no_errors	ENST00000374720	ensembl	human	known	74_37	missense	132	259	12.58	11.53	19	34	SNP	1	G	G	108125217	T	G	108125217	3	3	26	1	0	0	0	0	1	0	0	0	14635	1783	62	5	1050	5	SLC44A1	9	108125217	Missense_Mutation	SNP	T	TCGA-4X-A9FD-01A-11D-A423-09		108125217	33088214	9	257											
NLRC5	84166	genome.wustl.edu	37	chr16	57095391	57095391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttccggccagagcacGtgtccaggctggccaccggc	6	5	14	16	3	0	1	0	0	0	1	2	1	2	1	5	4	2	4	5	4	0	1	rs199476003		TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr16:57095391G>T	ENST00000262510.6	+	31	4243	c.4018G>T	c.(4018-4020)Gtg>Ttg	p.V1340L	NLRC5_ENST00000308149.7_Missense_Mutation_p.V1311L|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000436936.1_Missense_Mutation_p.V1340L|NLRC5_ENST00000539144.1_Missense_Mutation_p.V1311L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1340					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)	p.V1340M(1)		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)				GCCAGAGCACGTGTCCAGGCT	0.657																																							0											1	Substitution - Missense(1)	lung(1)											44	40	41					16																	57095391		2198	4300	6498	SO:0001583	missense	0			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.4018G>T	16.37:g.57095391G>T	ENSP00000262510:p.Val1340Leu		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.V1340L	ENST00000262510.6	37	c.4018	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702998|2.702998	0.48412|0.48412	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805;ENST00000399221|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	.|T;T;T;T;T;T	.|0.50813	.|0.74;5.63;0.74;5.63;0.74;0.73	4.55|4.55	-2.62|-2.62	0.06152|0.06152	.|.	.|.	.|.	.|.	.|.	T|T	0.30262|0.30262	0.0759|0.0759	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.24920	.|0.003;0.01;0.114;0.09;0.014	.|B;B;B;B;B	.|0.22601	.|0.003;0.011;0.028;0.04;0.013	T|T	0.25187|0.25187	-1.0139|-1.0139	5|9	.|0.18276	.|T	.|0.48	.|.	4.9998|4.9998	0.14259|0.14259	0.525:0.1665:0.3084:0.0|0.525:0.1665:0.3084:0.0	.|.	.|1024;1311;1311;1340;1340	.|Q9H6Y0;Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;.;NLRC5_HUMAN	L|L	1091;91|1340;1311;1340;783;1311;816;551	.|ENSP00000262510:V1340L;ENSP00000308886:V1311L;ENSP00000389739:V1340L;ENSP00000441727:V1311L;ENSP00000441597:V816L;ENSP00000440153:V551L	.|ENSP00000262510:V1340L	R|V	+|+	2|1	0|0	NLRC5|NLRC5	55652892|55652892	0.000000|0.000000	0.05858|0.05858	0.053000|0.053000	0.19242|0.19242	0.536000|0.536000	0.34869|0.34869	-1.556000|-1.556000	0.02168|0.02168	-0.306000|-0.306000	0.08818|0.08818	0.435000|0.435000	0.28638|0.28638	CGT|GTG	0	NULL		0.657	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	protein_coding	OTTHUMT00000257346.1	84	75	0	0.00	0	0	G	NM_032206	0	0		57095391	1	no_errors	ENST00000262510	ensembl	human	known	74_37	missense	35	22	12.5	15.38	5	4	SNP	0.018	T	T	57095391	G	T	57095391	3	4	26	1	0	0	0	0	1	0	0	0	10470	1145	40	5	4132	5	NLRC5	16	57095391	Missense_Mutation	SNP	G	TCGA-4X-A9FD-01A-11D-A423-09		57095391	33259362	10	258											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76573634	76573634	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaagtttgcagatcaggtAcaagttaaataaatatcaag	18	10	9	4	0	2	1	2	0	0	1	2	2	2	2	0	2	2	4	0	2	9	5			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr16:76573634A>G	ENST00000476707.1	+	19	3387	c.3248A>G	c.(3247-3249)tAc>tGc	p.Y1083C	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Y1007C|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.Y1079C|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Y1031C			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1080	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						CAGATCAGGTACAAGTTAAAT	0.333																																							0											0													65	65	65					16																	76573634		1966	4200	6166	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3248A>G	16.37:g.76573634A>G	ENSP00000417628:p.Tyr1083Cys		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.Y1079C	ENST00000476707.1	37	c.3236		16	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969889	0.74246	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	4.91	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.37809	N	0.001924	D	0.89639	0.6773	.	.	.	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.91181	0.4976	9	0.87932	D	0	.	15.0055	0.71510	1.0:0.0:0.0:0.0	.	1007;1083;1080	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	C	1079;1031;1007;1083	ENSP00000306893:Y1079C;ENSP00000439733:Y1031C;ENSP00000418741:Y1007C;ENSP00000417628:Y1083C	ENSP00000306893:Y1079C	Y	+	2	0	CNTNAP4	75131135	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.741000	0.74837	2.190000	0.69967	0.528000	0.53228	TAC	0	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.333	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	protein_coding	OTTHUMT00000348216.1	127	480	0	0.00	0	0	A	NM_033401	0	0		76573634	1	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	149	185	10.78	16.29	18	36	SNP	1	G	G	76573634	A	G	76573634	3	3	26	1	0	0	0	0	1	0	0	0	3649	391	14	3	3330	3	CNTNAP4	16	76573634	Missense_Mutation	SNP	A	TCGA-4X-A9FD-01A-11D-A423-09	19478243	76573634	13781119	11	259											
FOXF1	2294	genome.wustl.edu	37	chr16	86544465	86544465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggaagaactccgtgcGccacaacctctcgctcaacg	9	6	11	15	4	2	1	1	0	1	1	4	2	3	2	3	2	4	2	3	2	4	0			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr16:86544465G>T	ENST00000262426.4	+	1	333	c.290G>T	c.(289-291)cGc>cTc	p.R97L	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	97			R -> H (in ACDMPV). {ECO:0000269|PubMed:23505205}.		blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	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)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						AACTCCGTGCGCCACAACCTC	0.637																																							0											0													75	83	80					16																	86544465		2198	4300	6498	SO:0001583	missense	0			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"Forkhead boxes"	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.290G>T	16.37:g.86544465G>T	ENSP00000262426:p.Arg97Leu		B2RAF4|Q5FWE5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R97L	ENST00000262426.4	37	c.290	CCDS10957.2	16	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770008	0.90020	.	.	ENSG00000103241	ENST00000262426	D	0.98090	-4.71	4.21	4.21	0.49690	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98998	0.9658	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99497	1.0952	10	0.87932	D	0	.	15.8897	0.79286	0.0:0.0:1.0:0.0	.	97	Q12946	FOXF1_HUMAN	L	97	ENSP00000262426:R97L	ENSP00000262426:R97L	R	+	2	0	FOXF1	85101966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.334000	0.96470	2.052000	0.61016	0.650000	0.86243	CGC	0	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.637	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FOXF1	protein_coding	OTTHUMT00000269103.2	114	80	0	1.23	0	1	G	NM_001451	0	0		86544465	1	no_errors	ENST00000262426	ensembl	human	known	74_37	missense	62	46	13.89	16.36	10	9	SNP	1	T	T	86544465	G	T	86544465	3	4	26	1	0	0	0	0	1	0	0	0	6005	1087	38	5	292	5	FOXF1	16	86544465	Missense_Mutation	SNP	G	TCGA-4X-A9FD-01A-11D-A423-09	9970831	86544465	3810288	12	260											
LUC7L3	51747	genome.wustl.edu	37	chr17	48823273	48823273	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagagaagtcgttcaCgaagtagacactcaagccga	17	5	11	8	3	2	3	2	0	0	3	3	7	2	3	1	0	1	2	1	0	6	2			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr17:48823273C>T	ENST00000505658.1	+	8	1075	c.886C>T	c.(886-888)Cga>Tga	p.R296*	LUC7L3_ENST00000544170.1_Nonsense_Mutation_p.R220*|LUC7L3_ENST00000240304.1_Nonsense_Mutation_p.R296*|LUC7L3_ENST00000393227.2_Nonsense_Mutation_p.R296*			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	296	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAGTCGTTCACGAAGTAGACA	0.453																																							0											0													64	63	63					17																	48823273		2203	4300	6503	SO:0001587	stop_gained	0				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.886C>T	17.37:g.48823273C>T	ENSP00000425092:p.Arg296*		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Nonsense_Mutation	SNP	pfam_Luc7-rel	p.R296*	ENST00000505658.1	37	c.886	CCDS11573.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.714750	0.96830	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170	.	.	.	5.95	1.69	0.24217	.	0.244651	0.40728	N	0.001028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0928	6.1402	0.20255	0.3486:0.4783:0.1123:0.0608	.	.	.	.	X	296;296;296;220	.	ENSP00000240304:R296X	R	+	1	2	LUC7L3	46178272	0.913000	0.31002	0.995000	0.50966	0.952000	0.60782	1.640000	0.37186	0.116000	0.18110	-0.119000	0.15052	CGA	0	NULL		0.453	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L3	protein_coding	OTTHUMT00000368205.2	26	146	0	0.00	0	0	C	NM_016424	0	0		48823273	1	no_errors	ENST00000240304	ensembl	human	known	74_37	nonsense	47	82	9.62	15.31	5	15	SNP	0.913	T	T	48823273	C	T	48823273	4	4	26	1	0	0	0	0	0	1	0	0	9084	528	19	1	916	1	LUC7L3	17	48823273	Nonsense_Mutation	SNP	C	TCGA-4X-A9FD-01A-11D-A423-09		48823273	32371937	13	261											
C19orf2	8725	genome.wustl.edu	37	chr19	30476150	30476150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaaggtagataatgactAtaatgcccttcgagaaagac	17	8	10	6	1	0	5	0	1	0	4	1	7	0	5	1	1	1	1	1	1	7	5			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr19:30476150A>G	ENST00000542441.2	+	3	470	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	URI1_ENST00000360605.4_Missense_Mutation_p.Y40C|URI1_ENST00000312051.6_Missense_Mutation_p.Y18C|URI1_ENST00000392271.1_5'UTR			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	58					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)										GATAATGACTATAATGCCCTT	0.269																																							0											0													188	194	192					19																	30476150		2203	4300	6503	SO:0001583	missense	0			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.173A>G	19.37:g.30476150A>G	ENSP00000442436:p.Tyr58Cys		A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin	p.Y58C	ENST00000542441.2	37	c.173	CCDS12420.1	19	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987282	0.74589	.	.	ENSG00000105176	ENST00000360605;ENST00000542441;ENST00000312051	T;T;T	0.77489	-1.1;0.82;0.82	4.8	4.8	0.61643	Prefoldin (1);Prefoldin subunit (1);	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	M	0.83223	2.63	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	0.89701	0.3905	10	0.87932	D	0	-17.0656	12.9084	0.58166	1.0:0.0:0.0:0.0	.	18;58;56	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	C	56;58;18	ENSP00000353817:Y56C;ENSP00000442436:Y58C;ENSP00000312530:Y18C	ENSP00000312530:Y18C	Y	+	2	0	C19orf2	35167990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.420000	0.90256	1.809000	0.52856	0.460000	0.39030	TAT	0	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin		0.269	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URI1	protein_coding	OTTHUMT00000439756.1	97	454	0	0.00	0	0	A	NM_134447	0	0		30476150	1	no_errors	ENST00000542441	ensembl	human	known	74_37	missense	144	221	10.56	6.67	17	16	SNP	1	G	G	30476150	A	G	30476150	3	3	26	1	0	0	0	0	1	0	0	0	1911	449	16	3	183	3	C19orf2	19	30476150	Missense_Mutation	SNP	A	TCGA-4X-A9FD-01A-11D-A423-09		30476150	28652833	14	262											
CEBPA	1050	genome.wustl.edu	37	chr19	33792575	33792575	+	Frame_Shift_Del	DEL	G	G	-																															gccccttgagcgcgctgccaGggcccggcaggccggcggca																										TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr19:33792575delG	ENST00000498907.2	-	1	895	c.746delC	c.(745-747)cctfs	p.P249fs	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	249				GPG -> ALA (in Ref. 2; CAA72289). {ECO:0000305}.	acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H219fs*53(1)|p.G242fs*68(1)|p.H200_K352>Q(1)|p.P247fs*54(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CGCGCTGCCAgggcccggcag	0.786			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																														0		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	5	Deletion - Frameshift(3)|Unknown(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(5)											2	2	2					19																	33792575		1051	2440	3491	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.746delC	19.37:g.33792575delG	ENSP00000427514:p.Pro249fs		A7LNP2|P78319|Q05CA4	Frame_Shift_Del	DEL	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.P249fs	ENST00000498907.2	37	c.746	CCDS54243.1	19																																																																																			0	pirsf_CCAAT/enhancer-binding		0.786	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	22	0	0	0.00	0	0	G	NM_004364	0	0		33792575	-1	no_errors	ENST00000498907	ensembl	human	known	74_37	frame_shift_del	21	0	8.7	0.00	2	0	DEL	0.546	0	-	33792575	G	-	33792575	7	5	26	1	0	1	0	1	0	0	0	0	3199	1000	35	0	334	0	CEBPA	19	33792575	Frame_Shift_Del	DEL	G	TCGA-4X-A9FD-01A-11D-A423-09	3316425	33792575	25336408	15	263											
C20orf114	92747	genome.wustl.edu	37	chr20	31876668	31876668	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagcctggtgaacacCgtcctgaagcacatcatctg	9	8	11	13	1	2	2	1	2	1	0	3	2	3	2	3	2	3	2	3	2	2	0	rs370901362	byFrequency	TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chr20:31876668C>T	ENST00000253354.1	+	3	398	c.237C>T	c.(235-237)acC>acT	p.T79T		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	79					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)										TGGTGAACACCGTCCTGAAGC	0.627													C|||	2	0.000399361	0	0.0029	5008	,	,		19382	0		0	False		,,,				2504	0						0.9996,0.0003994											0								C		0,4406		0,0,2203	69	51	57		237	-2.3	0	20		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BPIFB1	NM_033197.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		79/485	31876668	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.237C>T	20.37:g.31876668C>T			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.T79	ENST00000253354.1	37	c.237	CCDS13218.1	20																																																																																			0	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form		0.627	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB1	protein_coding	OTTHUMT00000106499.2	63	135	0	0.74	0	1	C	NM_033197	rs370901362	C->T		31876668	1	no_errors	ENST00000253354	ensembl	human	known	74_37	silent	37	107	15.91	9.17	7	11	SNP	0	T	T	31876668	C	T	31876668	2	4	26	1	0	0	0	0	0	0	0	1	2082	639	23	2		2	C20orf114	20	31876668	Silent	SNP	C	TCGA-4X-A9FD-01A-11D-A423-09		31876668	31148852	16	264											
SHROOM2	357	genome.wustl.edu	37	chrX	9864183	9864183	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtggcgggccccacccGccccgcatcggaggccggag	7	2	15	17	5	0	0	0	0	0	0	1	2	0	2	6	5	0	1	6	5	1	0			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chrX:9864183G>A	ENST00000380913.3	+	4	2325	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	745	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				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)				GGCCCCACCCGCCCCGCATCG	0.627																																							0											0													10	11	11					X																	9864183		2172	4234	6406	SO:0001819	synonymous_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2235G>A	X.37:g.9864183G>A			B9EIQ7	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P745	ENST00000380913.3	37	c.2235	CCDS14135.1	X																																																																																			0	pfam_ASD1		0.627	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	protein_coding	OTTHUMT00000055721.1	143	64	0.69	0.00	1	0	G	NM_001649	0	0		9864183	1	no_errors	ENST00000380913	ensembl	human	known	74_37	silent	131	28	7.75	9.68	11	3	SNP	0	A	A	9864183	G	A	9864183	2	1	26	1	0	0	0	0	0	0	0	1	14294	1074	38	1		1	SHROOM2	23	9864183	Silent	SNP	G	TCGA-4X-A9FD-01A-11D-A423-09		9864183	145406377	17	265											
PHKA2	5256	genome.wustl.edu	37	chrX	18966938	18966938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcgagagtgaaaatgataCgtaagcctagcaaagaaaaa	20	6	9	6	2	0	4	0	2	0	2	1	5	0	4	1	0	3	2	1	0	8	3			TCGA-4X-A9FD-01A-11D-A423-09	TCGA-4X-A9FD-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1acf70a5-3f66-4379-83cc-9a7956ed25d5	c34cd5b5-6894-4811-9c58-e41f04811a22	g.chrX:18966938C>T	ENST00000379942.4	-	5	1126	c.461G>A	c.(460-462)cGt>cAt	p.R154H		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	154					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)					GAAAATGATACGTAAGCCTAG	0.388																																							0											0													134	133	134					X																	18966938		2203	4300	6503	SO:0001583	missense	0				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.461G>A	X.37:g.18966938C>T	ENSP00000369274:p.Arg154His		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.R154H	ENST00000379942.4	37	c.461	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	C	1.475	-0.558728	0.03967	.	.	ENSG00000044446	ENST00000379942	D	0.89196	-2.48	5.91	5.05	0.67936	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.205916	0.49916	N	0.000124	T	0.76256	0.3962	N	0.04260	-0.245	0.49582	D	0.999805	B	0.11235	0.004	B	0.11329	0.006	T	0.69124	-0.5228	10	0.17369	T	0.5	-6.5843	14.37	0.66833	0.0:0.9273:0.0:0.0727	.	154	P46019	KPB2_HUMAN	H	154	ENSP00000369274:R154H	ENSP00000369274:R154H	R	-	2	0	PHKA2	18876859	1.000000	0.71417	0.992000	0.48379	0.092000	0.18411	2.456000	0.44997	1.246000	0.43901	-0.215000	0.12644	CGT	0	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.388	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	protein_coding	OTTHUMT00000055960.1	167	318	0	0.00	0	0	C	NM_000292	0	0		18966938	-1	no_errors	ENST00000379942	ensembl	human	known	74_37	missense	186	148	13.08	12.87	28	22	SNP	0.919	T	T	18966938	C	T	18966938	3	4	26	1	0	0	0	0	1	0	0	0	11844	536	19	1	3362	1	PHKA2	23	18966938	Missense_Mutation	SNP	C	TCGA-4X-A9FD-01A-11D-A423-09	9102755	18966938	136303622	18	266											
CNST	163882	genome.wustl.edu	37	chr1	246810860	246810860	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttctgagggtaaatatTcacaggctcagaggaaagaa	15	10	11	5	0	3	4	2	2	1	2	3	5	3	5	0	3	0	2	0	3	5	4			TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chr1:246810860T>C	ENST00000366513.4	+	9	1626	c.1357T>C	c.(1357-1359)Tca>Cca	p.S453P	CNST_ENST00000366512.3_Missense_Mutation_p.S453P|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	453					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						GGGTAAATATTCACAGGCTCA	0.473											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													141	153	149					1																	246810860		2203	4300	6503	SO:0001583	missense	0			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.1357T>C	1.37:g.246810860T>C	ENSP00000355470:p.Ser453Pro	2468	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	NULL	p.S453P	ENST00000366513.4	37	c.1357	CCDS1628.1	1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.398559	0.25205	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.19105	2.17;2.18	5.34	1.3	0.21679	.	0.634163	0.14874	N	0.293359	T	0.18087	0.0434	L	0.56769	1.78	0.09310	N	0.999996	B;B	0.14438	0.01;0.01	B;B	0.13407	0.006;0.009	T	0.21042	-1.0257	10	0.33940	T	0.23	-14.1636	5.5122	0.16886	0.0:0.1818:0.3658:0.4525	.	453;453	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	P	453	ENSP00000355470:S453P;ENSP00000355469:S453P	ENSP00000355469:S453P	S	+	1	0	CNST	244877483	0.041000	0.20044	0.164000	0.22755	0.836000	0.47400	-0.043000	0.12043	0.308000	0.22923	0.338000	0.21704	TCA	0	NULL		0.473	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNST	protein_coding	OTTHUMT00000096780.1	25	236	0	0.00	0	0	T	NM_152609	0	0		246810860	1	no_errors	ENST00000366513	ensembl	human	known	74_37	missense	37	236	22.92	11.28	11	30	SNP	0.021	C	C	246810860	T	C	246810860	3	2	27	1	0	0	0	0	1	0	0	0	3634	1783	62	3	1387	3	CNST	1	246810860	Missense_Mutation	SNP	T	TCGA-5G-A9ZZ-01A-31D-A423-09		246810860	2439761	1	267											
ZNF192	7745	genome.wustl.edu	37	chr6	28116370	28116370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttacgctaccaggagaCactaggaccccgagaagctc	12	5	11	13	2	0	2	0	0	0	2	1	5	0	3	3	2	3	4	3	2	4	3			TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chr6:28116370C>T	ENST00000330236.6	+	2	369	c.185C>T	c.(184-186)aCa>aTa	p.T62I	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.T62I	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	62	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)										TACCAGGAGACACTAGGACCC	0.547																																							0											0													114	101	106					6																	28116370		2203	4300	6503	SO:0001583	missense	0				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.185C>T	6.37:g.28116370C>T	ENSP00000332750:p.Thr62Ile		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.T62I	ENST00000330236.6	37	c.185	CCDS4645.1	6	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874041	0.72180	.	.	ENSG00000198315	ENST00000330236;ENST00000457389;ENST00000536028	T;T;T	0.04317	3.65;3.65;3.65	5.02	5.02	0.67125	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.52532	D	0.000076	T	0.22437	0.0541	M	0.92169	3.28	0.36691	D	0.87959	D	0.76494	0.999	D	0.85130	0.997	T	0.11227	-1.0596	10	0.87932	D	0	.	16.104	0.81205	0.0:1.0:0.0:0.0	.	62	Q15776	ZN192_HUMAN	I	62	ENSP00000332750:T62I;ENSP00000402948:T62I;ENSP00000439117:T62I	ENSP00000332750:T62I	T	+	2	0	ZNF192	28224349	0.992000	0.36948	0.976000	0.42696	0.991000	0.79684	3.390000	0.52523	2.712000	0.92718	0.563000	0.77884	ACA	0	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.547	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN8	protein_coding	OTTHUMT00000040178.2	44	120	0	0.00	0	0	C		0	0		28116370	1	no_errors	ENST00000330236	ensembl	human	known	74_37	missense	15	67	30.43	10.67	7	8	SNP	0.972	T	T	28116370	C	T	28116370	3	4	27	1	0	0	0	0	1	0	0	0	17753	478	17	3	187	3	ZNF192	6	28116370	Missense_Mutation	SNP	C	TCGA-5G-A9ZZ-01A-31D-A423-09		28116370	142998697	2	268											
OR4C3	256144	genome.wustl.edu	37	chr11	48347418	48347418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacacctatgttgaatcCactcatttataccctgagaa	12	13	5	11	0	2	3	1	3	1	1	3	4	3	3	3	0	1	1	3	0	5	5			TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chr11:48347418C>T	ENST00000319856.4	+	1	947	c.926C>T	c.(925-927)cCa>cTa	p.P309L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	282						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						ATGTTGAATCCACTCATTTAT	0.343																																							0											0													92	95	94					11																	48347418		2201	4298	6499	SO:0001583	missense	0			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.926C>T	11.37:g.48347418C>T	ENSP00000321419:p.Pro309Leu		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P309L	ENST00000319856.4	37	c.926	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312322	0.60414	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.63417	-0.04	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	D	0.86602	0.5972	H	0.96604	3.85	0.47737	D	0.999504	D	0.76494	0.999	D	0.79784	0.993	D	0.90327	0.4349	10	0.87932	D	0	.	17.9278	0.88989	0.0:1.0:0.0:0.0	.	282	Q8NH37	OR4C3_HUMAN	L	309;172	ENSP00000321419:P309L	ENSP00000321419:P309L	P	+	2	0	OR4C3	48303994	0.996000	0.38824	0.222000	0.23844	0.587000	0.36485	4.176000	0.58269	2.838000	0.97847	0.561000	0.74099	CCA	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.343	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	protein_coding	OTTHUMT00000390557.1	61	353	0	0.00	0	0	C	NM_001004702	0	0		48347418	1	no_errors	ENST00000319856	ensembl	human	known	74_37	missense	62	401	7.46	4.75	5	20	SNP	0.959	T	T	48347418	C	T	48347418	3	4	27	1	0	0	0	0	1	0	0	0	11050	594	21	3	928	3	OR4C3	11	48347418	Missense_Mutation	SNP	C	TCGA-5G-A9ZZ-01A-31D-A423-09		48347418	86659098	3	269											
NCAPD2	9918	genome.wustl.edu	37	chr12	6640225	6640225	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagttgtcttctcaagtgAtgagtccagtgaggaaggta	12	11	12	6	0	2	3	1	3	2	0	4	4	3	4	1	2	0	2	1	2	4	3			TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chr12:6640225A>G	ENST00000315579.5	+	31	4902	c.4103A>G	c.(4102-4104)gAt>gGt	p.D1368G	NCAPD2_ENST00000545962.1_Missense_Mutation_p.D1323G|RP5-940J5.3_ENST00000537921.1_RNA|GAPDH_ENST00000229239.5_5'Flank	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1368					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						TTCTCAAGTGATGAGTCCAGT	0.567																																							0											0													53	60	58					12																	6640225		2203	4300	6503	SO:0001583	missense	0			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.4103A>G	12.37:g.6640225A>G	ENSP00000325017:p.Asp1368Gly		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.D1368G	ENST00000315579.5	37	c.4103	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125076	0.77436	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.27256	1.98;1.68	5.1	5.1	0.69264	.	0.131931	0.51477	D	0.000091	T	0.40347	0.1113	L	0.36672	1.1	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.25433	-1.0132	10	0.72032	D	0.01	-22.0733	12.7724	0.57429	1.0:0.0:0.0:0.0	.	1323;1368	F5GZJ1;Q15021	.;CND1_HUMAN	G	1368;1323	ENSP00000325017:D1368G;ENSP00000444417:D1323G	ENSP00000325017:D1368G	D	+	2	0	NCAPD2	6510486	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.613000	0.67688	2.131000	0.65755	0.459000	0.35465	GAT	0	pirsf_Condensin_cplx_su1		0.567	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	protein_coding	OTTHUMT00000399964.1	51	260	0	0.00	0	0	A	NM_014865	0	0		6640225	1	no_errors	ENST00000315579	ensembl	human	known	74_37	missense	39	111	17.02	26.00	8	39	SNP	1	G	G	6640225	A	G	6640225	3	3	27	1	0	0	0	0	1	0	0	0	10205	333	12	3	4221	3	NCAPD2	12	6640225	Missense_Mutation	SNP	A	TCGA-5G-A9ZZ-01A-31D-A423-09		6640225	127211670	4	270											
CDCA3	83461	genome.wustl.edu	37	chr12	6959688	6959688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtaggagagcggggatCtgagtcctgggcatgtttaa	11	9	16	5	1	1	3	0	1	1	2	2	5	2	4	1	4	1	3	1	4	3	3			TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chr12:6959688C>A	ENST00000538862.2	-	3	1094	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	CDCA3_ENST00000535406.1_Missense_Mutation_p.D65Y|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000229265.6_Missense_Mutation_p.D65Y|CDCA3_ENST00000422785.3_Missense_Mutation_p.D65Y|USP5_ENST00000389231.5_5'Flank|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000540683.1_Missense_Mutation_p.D65Y			Q99618	CDCA3_HUMAN	cell division cycle associated 3	65					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GAGCGGGGATCTGAGTCCTGG	0.547																																							0											0													156	142	147					12																	6959688		2203	4300	6503	SO:0001583	missense	0			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.193G>T	12.37:g.6959688C>A	ENSP00000442068:p.Asp65Tyr		A8K5V6|D3DUS6	Missense_Mutation	SNP	NULL	p.D65Y	ENST00000538862.2	37	c.193	CCDS8565.1	12	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081743	0.76528	.	.	ENSG00000237240;ENSG00000111665;ENSG00000111665;ENSG00000111665;ENSG00000111665	ENST00000422785;ENST00000229265;ENST00000538862;ENST00000535406;ENST00000540683	.	.	.	5.67	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.76666	0.4019	M	0.75264	2.295	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.79354	-0.1838	9	0.87932	D	0	-29.228	11.8226	0.52247	0.0:0.9183:0.0:0.0817	.	65;65	Q99618;F8WDL1	CDCA3_HUMAN;.	Y	65	.	ENSP00000229265:D65Y	D	-	1	0	U47924.25;CDCA3	6829949	1.000000	0.71417	0.998000	0.56505	0.741000	0.42261	5.600000	0.67599	1.411000	0.46957	-0.136000	0.14681	GAT	0	NULL		0.547	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA3	protein_coding	OTTHUMT00000401940.2	40	253	0	0.00	0	0	C	NM_031299	0	0		6959688	-1	no_errors	ENST00000538862	ensembl	human	known	74_37	missense	26	172	36.59	16.10	15	33	SNP	0.998	A	A	6959688	C	A	6959688	3	1	27	1	0	0	0	0	1	0	0	0	3087	913	32	5	629	5	CDCA3	12	6959688	Missense_Mutation	SNP	C	TCGA-5G-A9ZZ-01A-31D-A423-09	319463	6959688	126892207	5	271											
PDZRN4	29951	genome.wustl.edu	37	chr12	41900409	41900409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagtgcagcttatgaatgCcagcactcagacggacatca	14	7	10	10	1	2	3	2	1	0	2	2	4	2	4	1	1	4	3	1	1	3	1			TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chr12:41900409C>G	ENST00000402685.2	+	4	1003	c.995C>G	c.(994-996)gCc>gGc	p.A332G	PDZRN4_ENST00000539469.2_Missense_Mutation_p.A74G|PDZRN4_ENST00000298919.7_Missense_Mutation_p.A72G	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	332							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)				CTTATGAATGCCAGCACTCAG	0.532																																							0											0													169	139	149					12																	41900409		2203	4300	6503	SO:0001583	missense	0			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.995C>G	12.37:g.41900409C>G	ENSP00000384197:p.Ala332Gly		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.A332G	ENST00000402685.2	37	c.995	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576490	0.45902	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72167	-0.63;3.82;3.81	5.08	5.08	0.68730	.	0.082862	0.50627	D	0.000104	T	0.57460	0.2055	L	0.38531	1.155	0.45962	D	0.998786	P;B;B	0.48764	0.915;0.008;0.002	B;B;B	0.39465	0.3;0.013;0.008	T	0.59894	-0.7368	10	0.44086	T	0.13	-25.8891	10.0431	0.42171	0.0:0.8476:0.0:0.1524	.	332;72;74	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	G	332;74;72	ENSP00000384197:A332G;ENSP00000439990:A74G;ENSP00000298919:A72G	ENSP00000298919:A72G	A	+	2	0	PDZRN4	40186676	0.981000	0.34729	1.000000	0.80357	0.977000	0.68977	1.273000	0.33121	2.758000	0.94735	0.563000	0.77884	GCC	0	NULL		0.532	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	protein_coding	OTTHUMT00000403701.1	51	150	0	1.32	0	2	C	NM_013377	0	0		41900409	1	no_errors	ENST00000402685	ensembl	human	known	74_37	missense	45	135	22.41	20.12	13	34	SNP	1	G	G	41900409	C	G	41900409	3	3	27	1	0	0	0	0	1	0	0	0	11710	739	26	5	1082	5	PDZRN4	12	41900409	Missense_Mutation	SNP	C	TCGA-5G-A9ZZ-01A-31D-A423-09	34940721	41900409	91951486	6	272											
EVL	51466	genome.wustl.edu	37	chr14	100563849	100563849	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcaatcgtgaaagggcTgaagtacaatcaggccacgc	13	9	10	9	2	2	2	2	2	0	0	3	2	2	2	1	2	1	2	1	2	6	3			TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chr14:100563849T>C	ENST00000402714.2	+	3	810	c.206T>C	c.(205-207)cTg>cCg	p.L69P	EVL_ENST00000392920.3_Missense_Mutation_p.L71P|EVL_ENST00000555048.1_3'UTR|EVL_ENST00000544450.2_Missense_Mutation_p.L75P			Q9UI08	EVL_HUMAN	Enah/Vasp-like	69	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				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)				GTGAAAGGGCTGAAGTACAAT	0.478																																							0											0													79	75	76					14																	100563849		2203	4300	6503	SO:0001583	missense	0			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.206T>C	14.37:g.100563849T>C	ENSP00000384720:p.Leu69Pro		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.L71P	ENST00000402714.2	37	c.212		14	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517118	0.85495	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000555706;ENST00000539470;ENST00000557153	D;D;D;D;D	0.99113	-5.44;-5.44;-5.44;-2.87;-5.44	5.16	5.16	0.70880	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000007	D	0.99217	0.9728	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99425	1.0934	10	0.87932	D	0	-14.8583	14.9943	0.71418	0.0:0.0:0.0:1.0	.	75;71;69	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	P	69;75;71;56;71;56	ENSP00000384720:L69P;ENSP00000437904:L75P;ENSP00000376652:L71P;ENSP00000450723:L56P;ENSP00000452327:L56P	ENSP00000376652:L71P	L	+	2	0	EVL	99633602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.902000	0.87389	1.940000	0.56252	0.459000	0.35465	CTG	0	pfam_WH1/EVH1,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1		0.478	EVL-006	KNOWN	basic|appris_candidate	protein_coding	EVL	protein_coding	OTTHUMT00000413958.1	81	232	0	0.00	0	0	T		0	0		100563849	1	no_errors	ENST00000392920	ensembl	human	known	74_37	missense	50	179	18.03	16.36	11	35	SNP	1	C	C	100563849	T	C	100563849	3	2	27	1	0	0	0	0	1	0	0	0	5291	1580	55	4	222	4	EVL	14	100563849	Missense_Mutation	SNP	T	TCGA-5G-A9ZZ-01A-31D-A423-09		100563849	6785691	7	273											
PSTPIP1	9051	genome.wustl.edu	37	chr15	77310520	77310520	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcccacacgggctacgAggtgctgctgcagcggcttc	7	6	13	15	3	0	0	0	0	0	0	1	1	0	0	1	3	6	5	1	3	1	2			TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chr15:77310520A>T	ENST00000558012.1	+	2	557	c.68A>T	c.(67-69)gAg>gTg	p.E23V	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.E23V|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.E23V|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.E22V	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	23	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				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						ACGGGCTACGAGGTGCTGCTG	0.622																																							0											0													27	33	31					15																	77310520		2149	4239	6388	SO:0001583	missense	0			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.68A>T	15.37:g.77310520A>T	ENSP00000452746:p.Glu23Val		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.E88V	ENST00000558012.1	37	c.263	CCDS45312.1	15	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121202	0.77436	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.49432	0.78;2.37	4.28	4.28	0.50868	Fps/Fes/Fer/CIP4 homology (3);Prismane-like (1);	0.070932	0.64402	D	0.000016	T	0.68320	0.2988	M	0.80183	2.485	0.58432	D	0.999997	D;D;D;D	0.89917	0.998;0.986;0.999;1.0	D;P;D;D	0.81914	0.975;0.851;0.977;0.995	T	0.73474	-0.3971	10	0.72032	D	0.01	-14.593	12.7064	0.57063	1.0:0.0:0.0:0.0	.	23;22;23;23	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	V	23;22	ENSP00000368914:E23V;ENSP00000267939:E22V	ENSP00000267939:E22V	E	+	2	0	PSTPIP1	75097575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.098000	0.76974	1.707000	0.51288	0.358000	0.22013	GAG	0	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom		0.622	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	protein_coding	OTTHUMT00000419373.2	28	82	0	0.00	0	0	A	NM_003978	0	0		77310520	1	no_errors	ENST00000559785	ensembl	human	known	74_37	missense	27	61	12.9	7.58	4	5	SNP	1	T	T	77310520	A	T	77310520	3	4	27	1	0	0	0	0	1	0	0	0	12721	304	11	5	74	5	PSTPIP1	15	77310520	Missense_Mutation	SNP	A	TCGA-5G-A9ZZ-01A-31D-A423-09		77310520	25220872	8	274											
NDUFS7	374291	genome.wustl.edu	37	chr19	1395488	1395490	+	3'UTR	DEL	CGC	CGC	-																															agatctggtaccgcaggtagCgccgccgccgccgccgccgg																								rs551418570	byFrequency	TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	CGC	CGC	CGC	-	CGC	CGC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chr19:1395488_1395490delCGC	ENST00000233627.9	+	0	939_941				AC005329.7_ENST00000585596.1_RNA|NDUFS7_ENST00000313408.7_3'UTR|NDUFS7_ENST00000540530.1_3'UTR|AC005329.7_ENST00000501448.1_RNA|AC005329.7_ENST00000589734.1_RNA	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	Doxorubicin(DB00997)	CCGCAGGTAGcgccgccgccgcc	0.685																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"Mitochondrial respiratory chain complex / Complex I"	7714	protein-coding gene	gene with protein product	"complex I 20kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"	601825	"NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.*3CGC>-	19.37:g.1395497_1395499delCGC			B3KRI2|Q2T9H7|Q9BV17	RNA	DEL	0	NULL	ENST00000233627.9	37	NULL	CCDS12063.1	19																																																																																			0	0		0.685	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248015	protein_coding	OTTHUMT00000397984.1	14	30	0	0.00	0	0	CGC	NM_024407	0	0		1395490	-1	no_errors	ENST00000501448	ensembl	human	known	74_37	rna	4	25	33.33	7.41	2	2	DEL	0.006:0.014:0.013	0	-	1395490	CGC	-	1395488	6	5	27	0	1	1	0	1	0	0	0	0	10297	783	27	0		0	NDUFS7	19	1395488	3'UTR	DEL	CGC	TCGA-5G-A9ZZ-01A-31D-A423-09		1395488	57733495	9	275											
UPF1	5976	genome.wustl.edu	37	chr19	18968185	18968185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgatgtgcaagaaggcGgccaaggccgggctgtcaca	9	6	17	9	2	1	2	1	1	0	1	1	2	1	2	2	5	1	2	2	5	3	0	rs369728050		TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chr19:18968185G>A	ENST00000599848.1	+	15	2267	c.2058G>A	c.(2056-2058)gcG>gcA	p.A686A	UPF1_ENST00000262803.5_Silent_p.A675A			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	686					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCAAGAAGGCGGCCAAGGCCG	0.637																																							0											0								G		0,4404		0,0,2202	39	45	43		2025	-9.4	0.8	19		43	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	UPF1	NM_002911.3		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		675/1119	18968185	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	0			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2058G>A	19.37:g.18968185G>A			O00239|O43343|Q86Z25|Q92842	Silent	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase	p.A686	ENST00000599848.1	37	c.2058		19																																																																																			0	superfamily_P-loop_NTPase		0.637	UPF1-002	KNOWN	basic	protein_coding	UPF1	protein_coding	OTTHUMT00000464684.1	22	65	0	0.00	0	0	G	NM_002911	rs369728050	G->A		18968185	1	no_errors	ENST00000599848	ensembl	human	known	74_37	silent	20	29	13.04	6.45	3	2	SNP	0.905	A	A	18968185	G	A	18968185	2	1	27	1	0	0	0	0	0	0	0	1	17000	1103	39	2		2	UPF1	19	18968185	Silent	SNP	G	TCGA-5G-A9ZZ-01A-31D-A423-09	17572697	18968185	40160798	10	276											
IRF3	3661	genome.wustl.edu	37	chr19	50166738	50166738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtctggcttatccctccCgggaacatatgcaccagtgg	8	9	11	13	1	1	0	0	0	1	0	3	1	3	1	3	4	2	2	3	4	3	2			TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chr19:50166738C>T	ENST00000597198.1	-	3	580	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	IRF3_ENST00000596765.1_Intron|IRF3_ENST00000601291.1_Missense_Mutation_p.G67R|IRF3_ENST00000309877.7_Missense_Mutation_p.G67R|IRF3_ENST00000599680.1_5'Flank|BCL2L12_ENST00000441864.2_5'Flank|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000599223.1_Missense_Mutation_p.G67R|IRF3_ENST00000596822.1_5'UTR|BCL2L12_ENST00000246784.3_5'Flank|IRF3_ENST00000377135.4_Missense_Mutation_p.G67R|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000377139.3_Missense_Mutation_p.G67R|BCL2L12_ENST00000246785.3_5'Flank|IRF3_ENST00000600911.1_Missense_Mutation_p.G67R			Q14653	IRF3_HUMAN	interferon regulatory factor 3	67					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)		TTATCCCTCCCGGGAACATAT	0.612																																							0											0													54	48	50					19																	50166738		2203	4300	6503	SO:0001583	missense	0				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.199G>A	19.37:g.50166738C>T	ENSP00000469113:p.Gly67Arg		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	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.G67R	ENST00000597198.1	37	c.199	CCDS12775.1	19	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445238	0.43429	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.98120	-4.73;-4.73;-4.73	4.75	3.7	0.42460	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.065312	0.64402	D	0.000009	D	0.98074	0.9365	M	0.79258	2.445	0.25394	N	0.988505	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;P	0.91635	0.999;0.991;0.991;0.999;0.886	D	0.93064	0.6477	10	0.87932	D	0	-30.2911	6.6383	0.22895	0.0:0.7988:0.0:0.2012	.	67;67;67;67;67	B2RAZ3;Q96GL3;Q7Z5G6;Q14653;Q5FBY1	.;.;.;IRF3_HUMAN;.	R	67	ENSP00000366344:G67R;ENSP00000310127:G67R;ENSP00000366339:G67R	ENSP00000310127:G67R	G	-	1	0	IRF3	54858550	0.017000	0.18338	0.179000	0.23059	0.060000	0.15804	1.539000	0.36104	2.367000	0.80283	0.655000	0.94253	GGG	0	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom		0.612	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IRF3	protein_coding	OTTHUMT00000465962.1	28	223	0	0.00	0	0	C	NM_001571	0	0		50166738	-1	no_errors	ENST00000309877	ensembl	human	known	74_37	missense	21	150	8.7	18.92	2	35	SNP	0.308	T	T	50166738	C	T	50166738	3	4	27	1	0	0	0	0	1	0	0	0	7831	652	23	2	1108	2	IRF3	19	50166738	Missense_Mutation	SNP	C	TCGA-5G-A9ZZ-01A-31D-A423-09	31198553	50166738	8962245	11	277											
NHS	4810	genome.wustl.edu	37	chrX	17745002	17745002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaggcattaaggaacctCagttagatgcttcggatatt	14	11	9	7	1	1	1	1	0	0	1	2	3	1	3	1	3	3	3	1	3	6	5			TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chrX:17745002C>A	ENST00000380060.3	+	6	3051	c.2713C>A	c.(2713-2715)Cag>Aag	p.Q905K	NHS_ENST00000398097.3_Missense_Mutation_p.Q749K	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	926					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)					TAAGGAACCTCAGTTAGATGC	0.448																																							0											0													152	143	146					X																	17745002		2203	4300	6503	SO:0001583	missense	0				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.2713C>A	X.37:g.17745002C>A	ENSP00000369400:p.Gln905Lys		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.Q905K	ENST00000380060.3	37	c.2713	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	0.493	-0.874455	0.02550	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.41758	0.99;1.0	5.77	5.77	0.91146	.	0.451104	0.23791	N	0.044533	T	0.34716	0.0907	L	0.47716	1.5	0.39960	D	0.974656	B;B;B;B	0.32467	0.152;0.152;0.152;0.372	B;B;B;B	0.33392	0.051;0.037;0.037;0.163	T	0.13899	-1.0492	10	0.09084	T	0.74	-4.9302	13.1786	0.59641	0.0:0.9225:0.0:0.0775	.	926;747;749;905	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	K	905;749;747	ENSP00000369400:Q905K;ENSP00000381170:Q749K	ENSP00000369397:Q747K	Q	+	1	0	NHS	17654923	0.541000	0.26417	0.999000	0.59377	0.277000	0.26821	2.651000	0.46674	2.430000	0.82344	0.415000	0.27848	CAG	0	NULL		0.448	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	protein_coding	OTTHUMT00000059120.1	54	301	0	0.33	0	1	C	NM_198270	0	0		17745002	1	no_errors	ENST00000380060	ensembl	human	known	74_37	missense	45	222	21.05	18.68	12	51	SNP	0.986	A	A	17745002	C	A	17745002	3	1	27	1	0	0	0	0	1	0	0	0	10411	827	29	5	2840	5	NHS	23	17745002	Missense_Mutation	SNP	C	TCGA-5G-A9ZZ-01A-31D-A423-09		17745002	137525558	12	278											
SYTL5	94122	genome.wustl.edu	37	chrX	37979640	37979640	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcctgatattggccttcaAtacaaaggagagctgacagt	12	10	10	9	0	1	3	1	2	0	1	2	4	2	3	2	2	2	2	2	2	4	4			TCGA-5G-A9ZZ-01A-31D-A423-09	TCGA-5G-A9ZZ-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	42aead9b-0670-43e8-affb-121e0357816b	a0f552f8-ec94-4296-8ce2-7d902e1d837d	g.chrX:37979640A>G	ENST00000357972.5	+	14	2172	c.1626A>G	c.(1624-1626)caA>caG	p.Q542Q	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Silent_p.Q542Q|SYTL5_ENST00000456733.2_Silent_p.Q564Q			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	542					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTGGCCTTCAATACAAAGGAG	0.413																																							0											0													185	171	176					X																	37979640		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1626A>G	X.37:g.37979640A>G			A2RRF2	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.Q564	ENST00000357972.5	37	c.1692	CCDS14244.1	X																																																																																			0	NULL		0.413	SYTL5-201	KNOWN	basic|CCDS	protein_coding	SYTL5	protein_coding	OTTHUMT00000080883.1	86	381	0	0.00	0	0	A	NM_138780	0	0		37979640	1	no_errors	ENST00000456733	ensembl	human	known	74_37	silent	67	270	23.86	16.41	21	53	SNP	0.487	G	G	37979640	A	G	37979640	2	3	27	1	0	0	0	0	0	0	0	1	15483	98	4	3		3	SYTL5	23	37979640	Silent	SNP	A	TCGA-5G-A9ZZ-01A-31D-A423-09	20234638	37979640	117290920	13	279											
ZNF638	27332	genome.wustl.edu	37	chr2	71595630	71595630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatttgggaaagtgaatgAtgtcctaattgttccatata	13	14	8	6	0	0	2	0	2	0	0	2	3	2	3	3	1	0	1	3	1	5	6			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr2:71595630A>G	ENST00000409544.1	+	7	2744	c.2114A>G	c.(2113-2115)gAt>gGt	p.D705G	ZNF638_ENST00000264447.4_Missense_Mutation_p.D705G|ZNF638_ENST00000377802.2_Missense_Mutation_p.D705G|ZNF638_ENST00000355812.3_Missense_Mutation_p.D705G|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	705	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						AAAGTGAATGATGTCCTAATT	0.333																																							0											0													147	159	155					2																	71595630		2203	4300	6503	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2114A>G	2.37:g.71595630A>G	ENSP00000386433:p.Asp705Gly		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.D705G	ENST00000409544.1	37	c.2114	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934419	0.52866	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21	5.82	5.82	0.92795	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.525770	0.20234	N	0.096439	T	0.25044	0.0608	L	0.57536	1.79	0.40862	D	0.983841	D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.997;0.999;0.998	D;D;D;D;D;D	0.87578	0.998;0.991;0.995;0.983;0.998;0.991	T	0.00544	-1.1679	10	0.62326	D	0.03	-7.7628	12.5696	0.56328	1.0:0.0:0.0:0.0	.	705;811;705;705;705;705	A8K583;F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;.;ZN638_HUMAN;.	G	705;811;284;705;705;705;705	ENSP00000386669:D705G;ENSP00000438189:D811G;ENSP00000348066:D705G;ENSP00000367033:D705G;ENSP00000264447:D705G;ENSP00000386433:D705G	ENSP00000264447:D705G	D	+	2	0	ZNF638	71449138	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.045000	0.64220	2.222000	0.72286	0.383000	0.25322	GAT	0	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.333	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	protein_coding	OTTHUMT00000327431.1	98	255	0	0.00	0	0	A	NM_014497	0	0		71595630	1	no_errors	ENST00000264447	ensembl	human	known	74_37	missense	76	162	14.61	24.65	13	53	SNP	1	G	G	71595630	A	G	71595630	3	3	28	1	0	0	0	0	1	0	0	0	18052	333	12	3	2136	3	ZNF638	2	71595630	Missense_Mutation	SNP	A	TCGA-5K-AAAP-01A-11D-A423-09		71595630	171603743	1	280											
MARCH7	64844	genome.wustl.edu	37	chr2	160615812	160615812	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacctggaggattttgataTtcatgaactacatagagctc	13	13	8	7	0	1	3	1	2	0	1	2	5	1	5	1	2	4	1	1	2	5	7			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr2:160615812T>G	ENST00000259050.4	+	7	1981	c.1859T>G	c.(1858-1860)aTt>aGt	p.I620S	MARCH7_ENST00000539065.1_Missense_Mutation_p.I564S|MARCH7_ENST00000409591.1_Missense_Mutation_p.I582S|MARCH7_ENST00000409175.1_Missense_Mutation_p.I620S	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	620					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						GATTTTGATATTCATGAACTA	0.333																																							0											0													123	125	125					2																	160615812		2203	4297	6500	SO:0001583	missense	0			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.1859T>G	2.37:g.160615812T>G	ENSP00000259050:p.Ile620Ser		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.I620S	ENST00000259050.4	37	c.1859	CCDS2210.1	2	.	.	.	.	.	.	.	.	.	.	T	17.66	3.445469	0.63178	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591;ENST00000420397	T;T;T;T;T	0.46063	2.48;2.52;2.48;2.49;0.88	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	L	0.50333	1.59	0.80722	D	1	D;P;P	0.89917	1.0;0.808;0.624	D;B;B	0.83275	0.996;0.368;0.261	T	0.62416	-0.6859	10	0.72032	D	0.01	-15.1173	15.6119	0.76727	0.0:0.0:0.0:1.0	.	564;582;620	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	S	620;564;620;582;53	ENSP00000386830:I620S;ENSP00000442992:I564S;ENSP00000259050:I620S;ENSP00000387238:I582S;ENSP00000391493:I53S	ENSP00000259050:I620S	I	+	2	0	MARCH7	160324058	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.852000	0.86927	2.136000	0.66102	0.454000	0.30748	ATT	0	NULL		0.333	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	protein_coding	OTTHUMT00000255040.3	67	276	0	0.00	0	0	T	NM_022826	0	0		160615812	1	no_errors	ENST00000259050	ensembl	human	known	74_37	missense	62	171	15.07	22.62	11	50	SNP	1	G	G	160615812	T	G	160615812	3	3	28	1	0	0	0	0	1	0	0	0	9306	1493	52	5	1881	5	MARCH7	2	160615812	Missense_Mutation	SNP	T	TCGA-5K-AAAP-01A-11D-A423-09	89020182	160615812	82583561	2	281											
ATG9A	79065	genome.wustl.edu	37	chr2	220091611	220091611	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagctcaaagatctccccGatgagcatacatgtgaagcc	13	8	9	11	1	2	4	1	3	1	1	3	5	2	4	3	0	4	2	3	0	3	1			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr2:220091611G>T	ENST00000409618.1	-	5	631	c.192C>A	c.(190-192)atC>atA	p.I64I	AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Silent_p.I3I|ATG9A_ENST00000361242.4_Silent_p.I64I|ATG9A_ENST00000488833.1_5'UTR|ANKZF1_ENST00000409849.1_5'Flank|ATG9A_ENST00000396761.2_Silent_p.I64I|ANKZF1_ENST00000410034.3_5'Flank|ANKZF1_ENST00000323348.5_5'Flank			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	64					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATCTCCCCGATGAGCATAC	0.403																																							0											0													108	103	104					2																	220091611		1922	4119	6041	SO:0001819	synonymous_variant	0			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.192C>A	2.37:g.220091611G>T			Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Nonsense_Mutation	SNP	NULL	p.S65*	ENST00000409618.1	37	c.194	CCDS42820.1	2																																																																																			0	NULL		0.403	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	protein_coding	OTTHUMT00000335930.1	94	284	0	0.00	0	0	G	NM_024085	0	0		220091611	-1	no_errors	ENST00000412355	ensembl	human	known	74_37	nonsense	48	159	31.43	26.73	22	58	SNP	0.595	T	T	220091611	G	T	220091611	2	4	28	1	0	0	0	0	0	0	0	1	1102	1048	37	5		5	ATG9A	2	220091611	Silent	SNP	G	TCGA-5K-AAAP-01A-11D-A423-09	59475799	220091611	23107762	3	282											
PARP15	165631	genome.wustl.edu	37	chr3	122351025	122351025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaatataataccataaagGacaagttcacccgaacttgt	17	9	6	9	1	1	1	1	0	0	1	1	3	1	2	2	1	2	1	2	1	8	6			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr3:122351025G>T	ENST00000464300.2	+	10	1597	c.1531G>T	c.(1531-1533)Gac>Tac	p.D511Y	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.D208Y|PARP15_ENST00000310366.4_Missense_Mutation_p.D277Y|PARP15_ENST00000483793.1_Missense_Mutation_p.D316Y	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	511	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TACCATAAAGGACAAGTTCAC	0.378																																							0											0													84	80	81					3																	122351025		2203	4300	6503	SO:0001583	missense	0			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1531G>T	3.37:g.122351025G>T	ENSP00000417214:p.Asp511Tyr		J3KR47|Q8N1K3	Missense_Mutation	SNP	pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.D511Y	ENST00000464300.2	37	c.1531	CCDS46893.1	3	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549485	0.27652	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	3.77	-0.262	0.12958	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.30854	0.0778	M	0.79475	2.455	0.09310	N	1	B;P;D;D;D	0.69078	0.343;0.956;0.959;0.997;0.965	B;P;P;D;P	0.63283	0.098;0.588;0.55;0.913;0.712	T	0.09378	-1.0677	9	0.72032	D	0.01	.	8.3198	0.32121	0.3691:0.0:0.6309:0.0	.	208;277;258;316;489	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	Y	511;316;258;277;208	ENSP00000417214:D511Y;ENSP00000417785:D316Y;ENSP00000308436:D277Y;ENSP00000419488:D208Y	ENSP00000308436:D277Y	D	+	1	0	PARP15	123833715	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.989000	0.03736	0.000000	0.14550	0.655000	0.94253	GAC	0	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.378	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP15	protein_coding	OTTHUMT00000355964.2	33	193	0	0.00	0	0	G	NM_152615	0	0		122351025	1	no_errors	ENST00000464300	ensembl	human	known	74_37	missense	31	129	13.89	24.71	5	43	SNP	0	T	T	122351025	G	T	122351025	3	4	28	1	0	0	0	0	1	0	0	0	11459	1174	41	5	1638	5	PARP15	3	122351025	Missense_Mutation	SNP	G	TCGA-5K-AAAP-01A-11D-A423-09		122351025	75671405	4	283											
MMRN1	22915	genome.wustl.edu	37	chr4	90856011	90856011	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagagacatagtaagagaaCaatttaaaatttttcaaaat	21	12	5	3	0	1	2	1	0	0	2	1	4	1	2	0	0	1	1	0	0	9	7			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr4:90856011C>T	ENST00000394980.1	+	7	1499	c.1180C>T	c.(1180-1182)Caa>Taa	p.Q394*	MMRN1_ENST00000508372.1_Nonsense_Mutation_p.Q136*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.Q394*|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	394					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)		AGTAAGAGAACAATTTAAAAT	0.308																																							0											0													61	70	67					4																	90856011		2178	4282	6460	SO:0001587	stop_gained	0			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.1180C>T	4.37:g.90856011C>T	ENSP00000378431:p.Gln394*		Q4W5L1|Q6P3T8|Q6ZUL9	Nonsense_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.Q394*	ENST00000394980.1	37	c.1180	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	C	38	7.031158	0.98013	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.6544	0.95831	0.0:1.0:0.0:0.0	.	.	.	.	X	394;394;136	.	ENSP00000264790:Q394X	Q	+	1	0	MMRN1	91075034	1.000000	0.71417	0.983000	0.44433	0.674000	0.39518	3.443000	0.52907	2.807000	0.96579	0.591000	0.81541	CAA	0	NULL		0.308	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	protein_coding	OTTHUMT00000253546.2	83	183	0	0.00	0	0	C	NM_007351	0	0		90856011	1	no_errors	ENST00000264790	ensembl	human	known	74_37	nonsense	55	137	12.7	15.95	8	26	SNP	1	T	T	90856011	C	T	90856011	4	4	28	1	0	0	0	0	0	1	0	0	9670	479	17	3	1202	3	MMRN1	4	90856011	Nonsense_Mutation	SNP	C	TCGA-5K-AAAP-01A-11D-A423-09		90856011	100298265	5	284											
MTCH1	23787	genome.wustl.edu	37	chr6	36945416	36945416	+	Frame_Shift_Del	DEL	G	G	-																															ggggggtggcttaccatgcaGggggtgggccaacatgcggg																										TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr6:36945416delG	ENST00000373627.5	-	5	767	c.643delC	c.(643-645)ctgfs	p.L215fs	MTCH1_ENST00000538808.1_Frame_Shift_Del_p.L59fs|MTCH1_ENST00000373616.5_Frame_Shift_Del_p.L215fs	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	215					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TTACCATGCAGGGGGTGGGCC	0.647											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													22	20	21					6																	36945416		2200	4298	6498	SO:0001589	frameshift_variant	0			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"Solute carriers"	17586	protein-coding gene	gene with protein product	"solute carrier family 25, member 49"	610449	"mitochondrial carrier homolog 1 (C. elegans)"			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.643delC	6.37:g.36945416delG	ENSP00000362730:p.Leu215fs	866	A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Frame_Shift_Del	DEL	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L215fs	ENST00000373627.5	37	c.643		6																																																																																			0	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.647	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	MTCH1	protein_coding	OTTHUMT00000040396.1	32	10	0	0.00	0	0	G	NM_014341	0	0		36945416	-1	no_errors	ENST00000373627	ensembl	human	known	74_37	frame_shift_del	18	9	14.29	0.00	3	0	DEL	1	0	-	36945416	G	-	36945416	7	5	28	1	0	1	0	1	0	0	0	0	9913	991	35	0	507	0	MTCH1	6	36945416	Frame_Shift_Del	DEL	G	TCGA-5K-AAAP-01A-11D-A423-09		36945416	134169651	6	285											
WBSCR17	64409	genome.wustl.edu	37	chr7	70880948	70880948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaggtggtaagaaatcaGaagagggaaggcctgatccg	14	6	16	5	1	1	5	1	2	0	3	2	6	2	6	2	4	0	1	2	4	5	1			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr7:70880948G>T	ENST00000333538.5	+	4	1297	c.663G>T	c.(661-663)caG>caT	p.Q221H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	221	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)			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)				TAAGAAATCAGAAGAGGGAAG	0.557																																							0											0													85	75	78					7																	70880948		2203	4300	6503	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.663G>T	7.37:g.70880948G>T	ENSP00000329654:p.Gln221His		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.Q221H	ENST00000333538.5	37	c.663	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043101	0.36085	.	.	ENSG00000185274	ENST00000333538	T	0.59224	0.28	5.04	-3.9	0.04181	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	L	0.52573	1.65	0.53005	D	0.999963	B	0.15930	0.015	B	0.21546	0.035	T	0.19778	-1.0295	10	0.56958	D	0.05	.	16.7337	0.85442	0.1049:0.0:0.8951:0.0	.	221	Q6IS24	GLTL3_HUMAN	H	221	ENSP00000329654:Q221H	ENSP00000329654:Q221H	Q	+	3	2	WBSCR17	70518884	1.000000	0.71417	0.034000	0.17996	0.881000	0.50899	0.679000	0.25291	-1.435000	0.01972	-0.379000	0.06801	CAG	0	pfam_Glyco_trans_2		0.557	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	protein_coding	OTTHUMT00000252006.1	33	207	0	0.00	0	0	G	NM_022479	0	0		70880948	1	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	23	127	25.81	16.99	8	26	SNP	0.998	T	T	70880948	G	T	70880948	3	4	28	1	0	0	0	0	1	0	0	0	17261	933	33	5	677	5	WBSCR17	7	70880948	Missense_Mutation	SNP	G	TCGA-5K-AAAP-01A-11D-A423-09		70880948	88257715	7	286											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	292	133	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	244	89	24.22	21.24	78	24	SNP	1	A	A	74146970	T	A	74146970	3	1	28	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-5K-AAAP-01A-11D-A423-09	3266022	74146970	84991693	8	287											
ALOX5	240	genome.wustl.edu	37	chr10	45939679	45939679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgctgcccgaccgcggccGctcctgctggcatctgggtg	3	7	14	17	5	1	0	0	0	1	0	2	1	2	0	4	3	2	4	4	3	0	0			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr10:45939679G>A	ENST00000374391.2	+	13	1843	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	ALOX5_ENST00000542434.1_Intron|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	597	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)	GACCGCGGCCGCTCCTGCTGG	0.677																																							0											0													15	15	15					10																	45939679		2129	4217	6346	SO:0001583	missense	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1790G>A	10.37:g.45939679G>A	ENSP00000363512:p.Arg597His		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.R597H	ENST00000374391.2	37	c.1790	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.258434	0.95368	.	.	ENSG00000012779	ENST00000374391	D	0.90261	-2.64	5.06	5.06	0.68205	Lipoxygenase, C-terminal (3);	0.047443	0.85682	D	0.000000	D	0.94195	0.8137	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93897	0.7185	10	0.51188	T	0.08	-32.0736	15.9666	0.79979	0.0:0.0:1.0:0.0	.	565;597	E5FPY8;P09917	.;LOX5_HUMAN	H	597	ENSP00000363512:R597H	ENSP00000363512:R597H	R	+	2	0	ALOX5	45259685	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.657000	0.98554	2.639000	0.89480	0.650000	0.86243	CGC	0	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml		0.677	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	protein_coding	OTTHUMT00000047780.1	119	45	0	0.00	0	0	G		0	0		45939679	1	no_errors	ENST00000374391	ensembl	human	known	74_37	missense	86	25	22.52	37.50	25	15	SNP	1	A	A	45939679	G	A	45939679	3	1	28	1	0	0	0	0	1	0	0	0	540	1087	38	1	1840	1	ALOX5	10	45939679	Missense_Mutation	SNP	G	TCGA-5K-AAAP-01A-11D-A423-09		45939679	89595068	9	288											
ABTB2	25841	genome.wustl.edu	37	chr11	34378463	34378463	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggctgcgtactcgtggAtgcgcacggagattcgggtg	7	9	17	8	5	0	2	0	0	0	2	2	4	0	3	0	4	3	3	0	4	1	2			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr11:34378463A>G	ENST00000435224.2	-	1	1092	c.668T>C	c.(667-669)aTc>aCc	p.I223T	ABTB2_ENST00000298992.2_Missense_Mutation_p.I37T	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	223					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)				GTACTCGTGGATGCGCACGGA	0.677																																							0											0													38	31	34					11																	34378463		2201	4298	6499	SO:0001583	missense	0			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.668T>C	11.37:g.34378463A>G	ENSP00000410157:p.Ile223Thr		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.I223T	ENST00000435224.2	37	c.668	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	A	13.98	2.400294	0.42613	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.70045	-0.45;-0.41	4.5	4.5	0.54988	Histone-fold (2);	0.128501	0.50627	D	0.000110	T	0.69405	0.3107	M	0.81614	2.55	0.58432	D	0.999999	P	0.49090	0.919	B	0.42692	0.395	T	0.76410	-0.2969	10	0.87932	D	0	-11.3953	13.0305	0.58839	1.0:0.0:0.0:0.0	.	37	Q8N961	ABTB2_HUMAN	T	223;37	ENSP00000410157:I223T;ENSP00000298992:I37T	ENSP00000298992:I37T	I	-	2	0	ABTB2	34335039	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	8.680000	0.91225	1.679000	0.50963	0.374000	0.22700	ATC	0	superfamily_Histone-fold		0.677	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	protein_coding	OTTHUMT00000388703.3	66	48	1.49	0.00	1	0	A	NM_145804	0	0		34378463	-1	no_errors	ENST00000435224	ensembl	human	known	74_37	missense	37	46	36.21	19.30	21	11	SNP	1	G	G	34378463	A	G	34378463	3	3	28	1	0	0	0	0	1	0	0	0	103	333	12	3	2477	3	ABTB2	11	34378463	Missense_Mutation	SNP	A	TCGA-5K-AAAP-01A-11D-A423-09		34378463	100628053	10	289											
SYT7	9066	genome.wustl.edu	37	chr11	61291930	61291930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacacctccccaatggggtCgttgcggctgaagcggtcat	7	8	14	12	3	1	1	1	1	0	0	3	2	2	2	3	5	2	2	3	5	2	1			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr11:61291930C>T	ENST00000263846.4	-	6	1024	c.697G>A	c.(697-699)Gac>Aac	p.D233N	SYT7_ENST00000539008.1_Missense_Mutation_p.D516N|SYT7_ENST00000542670.1_Missense_Mutation_p.D441N|SYT7_ENST00000542836.1_Missense_Mutation_p.D277N|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Missense_Mutation_p.D352N|SYT7_ENST00000540677.1_Missense_Mutation_p.D308N	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	233	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCAATGGGGTCGTTGCGGCTG	0.547																																							0											0													90	82	85					11																	61291930		2202	4299	6501	SO:0001583	missense	0			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.697G>A	11.37:g.61291930C>T	ENSP00000263846:p.Asp233Asn		F5GZU9|Q08AH6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.D233N	ENST00000263846.4	37	c.697	CCDS31577.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.143057	0.94560	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	4.69	4.69	0.59074	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	0.87493	0.6191	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	D	0.90767	0.4669	10	0.87932	D	0	.	17.9665	0.89100	0.0:1.0:0.0:0.0	.	308;233	F5GZU9;O43581	.;SYT7_HUMAN	N	233;308;516;277;441;352	ENSP00000263846:D233N;ENSP00000444201:D308N;ENSP00000439694:D516N;ENSP00000444568:D277N;ENSP00000444019:D441N;ENSP00000437720:D352N	ENSP00000263846:D233N	D	-	1	0	SYT7	61048506	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.729000	0.84864	2.287000	0.76781	0.462000	0.41574	GAC	0	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.547	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	protein_coding	OTTHUMT00000398733.1	55	181	0	0.00	0	0	C	NM_004200	0	0		61291930	-1	no_errors	ENST00000263846	ensembl	human	known	74_37	missense	43	102	27.12	27.66	16	39	SNP	1	T	T	61291930	C	T	61291930	3	4	28	1	0	0	0	0	1	0	0	0	15476	884	31	2	530	2	SYT7	11	61291930	Missense_Mutation	SNP	C	TCGA-5K-AAAP-01A-11D-A423-09	26913467	61291930	73714586	11	290											
OR6C65	403282	genome.wustl.edu	37	chr12	55794550	55794550	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtcttcattcctagatttCtgatcaacattgctacagga	11	14	6	10	0	4	2	2	1	2	1	5	3	5	3	1	1	3	1	1	1	3	6			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr12:55794550C>T	ENST00000379665.2	+	1	337	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	80						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						TCCTAGATTTCTGATCAACAT	0.318																																							0											0													74	77	76					12																	55794550		2203	4300	6503	SO:0001819	synonymous_variant	0				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.238C>T	12.37:g.55794550C>T			B2RNH9	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L80	ENST00000379665.2	37	c.238	CCDS31821.1	12																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.318	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	protein_coding	OTTHUMT00000406674.1	34	259	0	0.00	0	0	C		0	0		55794550	1	no_errors	ENST00000379665	ensembl	human	known	74_37	silent	31	207	29.55	18.82	13	48	SNP	0.004	T	T	55794550	C	T	55794550	2	4	28	1	0	0	0	0	0	0	0	1	11195	912	32	3		3	OR6C65	12	55794550	Silent	SNP	C	TCGA-5K-AAAP-01A-11D-A423-09		55794550	78057345	12	291											
NBEA	26960	genome.wustl.edu	37	chr13	35738643	35738643	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgctgctacatcaccAactgtaagtactttgcctcc	8	13	5	15	0	2	0	1	0	1	0	4	0	3	0	3	0	6	4	3	0	4	4			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr13:35738643A>C	ENST00000400445.3	+	24	4764	c.4230A>C	c.(4228-4230)ccA>ccC	p.P1410P	NBEA_ENST00000379939.2_Silent_p.P1410P|NBEA_ENST00000310336.4_Silent_p.P1410P|NBEA_ENST00000540320.1_Silent_p.P1410P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1410					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)		CTACATCACCAACTGTAAGTA	0.368																																							0											0													137	125	129					13																	35738643		1918	4159	6077	SO:0001819	synonymous_variant	0			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.4230A>C	13.37:g.35738643A>C			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.P1410	ENST00000400445.3	37	c.4230	CCDS45026.1	13																																																																																			0	NULL		0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		38	239	0	0.41	0	1	A	NM_015678	0	0		35738643	1	no_errors	ENST00000310336	ensembl	human	known	74_37	silent	47	174	16.07	25.96	9	61	SNP	0.981	C	C	35738643	A	C	35738643	2	2	28	1	0	0	0	0	0	0	0	1	10187	117	5	5		5	NBEA	13	35738643	Silent	SNP	A	TCGA-5K-AAAP-01A-11D-A423-09		35738643	79431235	13	292											
PPFIA3	8541	genome.wustl.edu	37	chr19	49641538	49641539	+	Frame_Shift_Ins	INS	-	-	A																															ggtgtccagctctggcttggINSactcgttgggccgctaccgc																										TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr19:49641538_49641539insA	ENST00000334186.4	+	16	2279_2280	c.1930_1931insA	c.(1930-1932)gacfs	p.D644fs	PPFIA3_ENST00000602351.1_Frame_Shift_Ins_p.D644fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	644					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)		CTCTGGCTTGGACTCGTTGGGC	0.629																																							0											0																																										SO:0001589	frameshift_variant	0			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.1931dupA	19.37:g.49641539_49641539dupA	ENSP00000335614:p.Asp644fs		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Frame_Shift_Ins	INS	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D644fs	ENST00000334186.4	37	c.1930_1931	CCDS12758.1	19																																																																																			0	NULL		0.629	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	protein_coding	OTTHUMT00000465688.1	188	95	0	0.00	0	0	0	NM_003660	0	0		49641539	1	no_errors	ENST00000334186	ensembl	human	known	74_37	frame_shift_ins	90	71	26.23	16.47	32	14	INS	0.999:0.852	A	A	49641539	-	A	49641538	7	5	28	1	0	1	1	0	0	0	0	0	12311	1174	41	0	1988	0	PPFIA3	19	49641538	Frame_Shift_Ins	INS	-	TCGA-5K-AAAP-01A-11D-A423-09		49641538	9487445	14	293											
KIR3DL2	3812	genome.wustl.edu	37	chr19	55363631	55363631	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggagagcttcatcatgggCcctgtgaccccagcacatgc	9	7	11	14	0	2	2	2	1	0	1	2	3	2	2	3	2	3	2	3	2	0	1			TCGA-5K-AAAP-01A-11D-A423-09	TCGA-5K-AAAP-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7fccb59-0f2a-4e56-a368-b4d34c474334	6c0eb94a-494b-4eb9-9a76-b0459685bd21	g.chr19:55363631C>T	ENST00000326321.3	+	3	282	c.249C>T	c.(247-249)ggC>ggT	p.G83G	KIR3DL2_ENST00000270442.5_Silent_p.G83G|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	83	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)		TCATCATGGGCCCTGTGACCC	0.552																																							0											0													12	11	12					19																	55363631		2113	4013	6126	SO:0001819	synonymous_variant	0			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.249C>T	19.37:g.55363631C>T			Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.G83	ENST00000326321.3	37	c.249	CCDS12906.1	19																																																																																			0	pfam_Immunoglobulin,smart_Ig_sub		0.552	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIR3DL2	protein_coding	OTTHUMT00000141241.1	21	18	0	0.00	0	0	C		0	0		55363631	1	no_errors	ENST00000326321	ensembl	human	known	74_37	silent	21	9	12.5	0.00	3	0	SNP	0.029	T	T	55363631	C	T	55363631	2	4	28	1	0	0	0	0	0	0	0	1	8321	726	26	3		3	KIR3DL2	19	55363631	Silent	SNP	C	TCGA-5K-AAAP-01A-11D-A423-09	5722093	55363631	3765352	15	294											
SPOCD1	90853	genome.wustl.edu	37	chr1	32256617	32256617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaagcagagattccccttgGagctatactgcccctgccct	8	9	8	16	0	0	1	0	0	0	1	1	3	1	2	6	1	5	2	6	1	3	4			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr1:32256617G>A	ENST00000360482.2	-	16	3367	c.3238C>T	c.(3238-3240)Cca>Tca	p.P1080S	SPOCD1_ENST00000257100.3_Missense_Mutation_p.P560S|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P1067S|RP11-84A19.3_ENST00000527035.1_RNA	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1080					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)		ATTCCCCTTGGAGCTATACTG	0.657																																							0											0													22	23	23					1																	32256617		2201	4299	6500	SO:0001583	missense	0			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.3238C>T	1.37:g.32256617G>A	ENSP00000353670:p.Pro1080Ser		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.P1080S	ENST00000360482.2	37	c.3238	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460039	0.26248	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000452755;ENST00000533231	T;T;T;T	0.57107	0.44;0.6;0.42;0.57	4.88	2.99	0.34606	.	.	.	.	.	T	0.41166	0.1147	L	0.27053	0.805	0.80722	D	1	P;B;B	0.35107	0.484;0.141;0.352	B;B;B	0.40256	0.324;0.071;0.173	T	0.33879	-0.9851	9	0.72032	D	0.01	-4.0525	7.545	0.27761	0.0917:0.1666:0.7416:0.0	.	1067;503;1080	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	S	560;1080;503;1067	ENSP00000257100:P560S;ENSP00000353670:P1080S;ENSP00000399778:P503S;ENSP00000435851:P1067S	ENSP00000257100:P560S	P	-	1	0	SPOCD1	32029204	0.863000	0.29885	0.414000	0.26521	0.012000	0.07955	2.071000	0.41500	0.726000	0.32339	-0.872000	0.02987	CCA	0	NULL		0.657	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	protein_coding	OTTHUMT00000381912.1	53	51	0	0.00	0	0	G	NM_144569	0	0		32256617	-1	no_errors	ENST00000360482	ensembl	human	known	74_37	missense	15	21	50	27.59	15	8	SNP	0.827	A	A	32256617	G	A	32256617	3	1	29	1	0	0	0	0	1	0	0	0	15077	1174	41	3	416	3	SPOCD1	1	32256617	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09		32256617	216994004	1	295											
NRD1	4898	genome.wustl.edu	37	chr1	52276077	52276077	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggcttcaccaatgacCtagtaaagtgggaagagggg	13	8	13	7	0	2	2	2	1	0	1	2	3	2	3	2	4	0	2	2	4	6	4			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr1:52276077C>T	ENST00000354831.7	-	18	2173		c.e18-1		NRD1_ENST00000544028.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site|NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000539524.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						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						CACCAATGACCTAGTAAAGTG	0.388																																							0											0													74	69	71					1																	52276077		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1984-1G>A	1.37:g.52276077C>T			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	0	e18-1	ENST00000354831.7	37	c.1984-1	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374499	0.61735	.	.	ENSG00000078618	ENST00000440943;ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.309	0.90192	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52048665	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	7.045000	0.76585	2.557000	0.86248	0.561000	0.74099	.	0	0		0.388	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	protein_coding	OTTHUMT00000023045.1	50	222	0	0.45	0	1	C	NM_002525	0	0	Intron	52276077	-1	no_errors	ENST00000354831	ensembl	human	known	74_37	splice_site	82	190	28.7	24.51	33	62	SNP	1	T	T	52276077	C	T	52276077	5	4	29	1	0	0	0	0	0	0	1	0	10645	695	24	3	1740	3	NRD1	1	52276077	Splice_Site	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	20019460	52276077	196974544	2	296											
SNX7	51375	genome.wustl.edu	37	chr1	99127441	99127441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctggatctggacgaggacGaggacgacctggaggtgttc	8	8	17	8	3	1	0	0	0	1	0	2	8	1	5	1	6	1	2	1	6	0	1			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr1:99127441G>A	ENST00000306121.3	+	1	163	c.154G>A	c.(154-156)Gag>Aag	p.E52K	SNX7_ENST00000370189.5_5'UTR|SNX7_ENST00000473868.1_3'UTR|SNX7_ENST00000529992.1_Missense_Mutation_p.E52K	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	0	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)		GGACGAGGACGAGGACGACCT	0.711																																							0											0													16	23	21					1																	99127441		691	1589	2280	SO:0001583	missense	0			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.154G>A	1.37:g.99127441G>A	ENSP00000304429:p.Glu52Lys		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E52K	ENST00000306121.3	37	c.154	CCDS755.2	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676708	0.88445	.	.	ENSG00000162627	ENST00000529992;ENST00000306121	T;T	0.35421	1.85;1.31	4.57	3.66	0.41972	.	.	.	.	.	T	0.06962	0.0177	N	0.19112	0.55	0.80722	D	1	P;P	0.36282	0.546;0.507	B;B	0.24155	0.051;0.034	T	0.12993	-1.0526	9	0.12430	T	0.62	.	9.6455	0.39865	0.0985:0.0:0.9015:0.0	.	52;52	E9PNL2;Q9UNH6-3	.;.	K	52	ENSP00000434731:E52K;ENSP00000304429:E52K	ENSP00000304429:E52K	E	+	1	0	SNX7	98900029	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.354000	0.59417	1.138000	0.42230	0.455000	0.32223	GAG	0	NULL		0.711	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX7	protein_coding	OTTHUMT00000029609.2	36	94	0	0.00	0	0	G		0	0		99127441	1	no_errors	ENST00000306121	ensembl	human	known	74_37	missense	21	89	25	21.93	7	25	SNP	1	A	A	99127441	G	A	99127441	3	1	29	1	0	0	0	0	1	0	0	0	14907	1059	37	2	156	2	SNX7	1	99127441	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	46851364	99127441	150123180	3	297											
ADAMTSL4	54507	genome.wustl.edu	37	chr1	150525906	150525906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacaccttctcaggtccCggcttcgagaccccatcaag	10	8	8	15	2	2	2	2	1	1	1	5	3	3	2	4	2	1	1	4	2	2	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr1:150525906C>T	ENST00000369038.2	+	4	640	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R147W|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R147W|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R147W			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	147					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)			TCTCAGGTCCCGGCTTCGAGA	0.587																																							0											0													70	69	70					1																	150525906		2203	4300	6503	SO:0001583	missense	0			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.439C>T	1.37:g.150525906C>T	ENSP00000358034:p.Arg147Trp		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.R147W	ENST00000369038.2	37	c.439	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378554	0.42207	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.72505	-0.63;-0.66;-0.51;-0.66	4.39	3.44	0.39384	.	.	.	.	.	T	0.51584	0.1683	M	0.63843	1.955	0.53005	D	0.999968	B;B;B;B	0.25007	0.071;0.049;0.071;0.116	B;B;B;B	0.19391	0.011;0.017;0.007;0.025	T	0.57825	-0.7744	9	0.87932	D	0	.	10.0986	0.42491	0.0:0.7951:0.2049:0.0	.	147;147;147;147	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	W	147	ENSP00000358037:R147W;ENSP00000271643:R147W;ENSP00000358035:R147W;ENSP00000358034:R147W	ENSP00000271643:R147W	R	+	1	2	ADAMTSL4	148792530	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	1.060000	0.30530	0.793000	0.33875	0.542000	0.68232	CGG	0	pfscan_Thrombospondin_1_rpt		0.587	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	protein_coding	OTTHUMT00000084395.4	57	161	0	0.00	0	0	C	NM_019032	0	0		150525906	1	no_errors	ENST00000369039	ensembl	human	known	74_37	missense	31	142	13.89	33.02	5	70	SNP	1	T	T	150525906	C	T	150525906	3	4	29	1	0	0	0	0	1	0	0	0	277	643	23	2	453	2	ADAMTSL4	1	150525906	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	51398465	150525906	98724715	4	298											
OR10Z1	128368	genome.wustl.edu	37	chr1	158576545	158576545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagatgttcttttctgcctCatgggcctgtactaactgct	6	15	8	12	0	3	1	1	0	2	1	3	1	3	1	3	1	4	3	3	1	2	5			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr1:158576545C>T	ENST00000361284.1	+	1	317	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	106						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)					TTTTCTGCCTCATGGGCCTGT	0.547																																							0											0													144	150	148					1																	158576545		2203	4299	6502	SO:0001583	missense	0			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.317C>T	1.37:g.158576545C>T	ENSP00000354707:p.Ser106Leu		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S106L	ENST00000361284.1	37	c.317	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	C	5.558	0.287904	0.10513	.	.	ENSG00000198967	ENST00000361284	T	0.00388	7.59	5.36	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.560257	0.13639	N	0.373121	T	0.00039	0.0001	N	0.05487	-0.04	0.09310	N	1	B	0.27791	0.189	B	0.26202	0.067	T	0.00225	-1.1901	10	0.10902	T	0.67	.	9.6156	0.39690	0.0:0.7784:0.1436:0.0779	.	106	Q8NGY1	O10Z1_HUMAN	L	106	ENSP00000354707:S106L	ENSP00000354707:S106L	S	+	2	0	OR10Z1	156843169	0.000000	0.05858	0.036000	0.18154	0.894000	0.52154	-0.548000	0.06048	0.795000	0.33922	0.655000	0.94253	TCA	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.547	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	protein_coding	OTTHUMT00000051853.1	34	72	0	0.00	0	0	C	NM_001004478	0	0		158576545	1	no_errors	ENST00000361284	ensembl	human	known	74_37	missense	20	117	16.67	13.24	4	18	SNP	0.002	T	T	158576545	C	T	158576545	3	4	29	1	0	0	0	0	1	0	0	0	10923	838	29	3	319	3	OR10Z1	1	158576545	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	8050639	158576545	90674076	5	299											
ADAM17	6868	genome.wustl.edu	37	chr2	9661424	9661424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccaggttttacctcttGtggagacttgagaatgcgaa	10	13	10	8	1	2	2	1	1	1	2	2	5	2	2	2	2	2	1	2	2	3	5			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr2:9661424G>C	ENST00000310823.3	-	8	1047	c.865C>G	c.(865-867)Caa>Gaa	p.Q289E		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	289	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)		TTTACCTCTTGTGGAGACTTG	0.373																																							0											0													201	189	193					2																	9661424		2203	4300	6503	SO:0001583	missense	0			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.865C>G	2.37:g.9661424G>C	ENSP00000309968:p.Gln289Glu		O60226	Missense_Mutation	SNP	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.Q289E	ENST00000310823.3	37	c.865	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	G	2.308	-0.358541	0.05138	.	.	ENSG00000151694	ENST00000310823	D	0.86432	-2.12	5.63	2.65	0.31530	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.371554	0.32935	N	0.005462	T	0.62708	0.2450	N	0.01352	-0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59101	-0.7517	10	0.06099	T	0.92	.	11.6043	0.51022	0.0:0.5348:0.3111:0.1541	.	289;289	B2RNB2;P78536	.;ADA17_HUMAN	E	289	ENSP00000309968:Q289E	ENSP00000309968:Q289E	Q	-	1	0	ADAM17	9578875	0.698000	0.27777	1.000000	0.80357	0.992000	0.81027	0.538000	0.23160	0.820000	0.34516	0.555000	0.69702	CAA	0	pfscan_Peptidase_M12B		0.373	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	protein_coding	OTTHUMT00000206857.1	71	234	0	0.42	0	1	G		0	0		9661424	-1	no_errors	ENST00000310823	ensembl	human	known	74_37	missense	139	362	10.32	16.78	16	73	SNP	0.958	C	C	9661424	G	C	9661424	3	2	29	1	0	0	0	0	1	0	0	0	238	1386	48	5	1657	5	ADAM17	2	9661424	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09		9661424	233537949	6	300											
GMCL1	64395	genome.wustl.edu	37	chr2	70066635	70066635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttcttggaaagaatccaGcatgaatattattgaactgg	13	13	10	5	0	1	3	0	2	1	1	2	4	2	4	1	3	2	2	1	3	6	5			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr2:70066635G>T	ENST00000282570.3	+	3	682	c.431G>T	c.(430-432)aGc>aTc	p.S144I	GMCL1_ENST00000468386.2_3'UTR	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	144	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						AAAGAATCCAGCATGAATATT	0.323																																							0											0													76	81	80					2																	70066635		2203	4294	6497	SO:0001583	missense	0			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.431G>T	2.37:g.70066635G>T	ENSP00000282570:p.Ser144Ile		Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.S144I	ENST00000282570.3	37	c.431	CCDS1895.1	2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436255	0.43224	.	.	ENSG00000087338	ENST00000282570	T	0.69306	-0.39	4.86	3.97	0.46021	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.042710	0.85682	D	0.000000	T	0.65544	0.2701	L	0.55990	1.75	0.43622	D	0.996007	B	0.24043	0.096	B	0.36134	0.218	T	0.65635	-0.6120	10	0.56958	D	0.05	-5.9904	11.2073	0.48778	0.0905:0.0:0.9095:0.0	.	144	Q96IK5	GMCL1_HUMAN	I	144	ENSP00000282570:S144I	ENSP00000282570:S144I	S	+	2	0	GMCL1	69920139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.656000	0.54467	1.233000	0.43693	0.591000	0.81541	AGC	0	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.323	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMCL1	protein_coding	OTTHUMT00000251841.2	83	107	0	0.00	0	0	G	NM_178439	0	0		70066635	1	no_errors	ENST00000282570	ensembl	human	known	74_37	missense	166	144	33.86	37.23	85	86	SNP	1	T	T	70066635	G	T	70066635	3	4	29	1	0	0	0	0	1	0	0	0	6485	971	34	5	441	5	GMCL1	2	70066635	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	60405211	70066635	173132738	7	301											
CHST10	9486	genome.wustl.edu	37	chr2	101019055	101019055	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaatgtgcttctcttCtggcaacttcctcacttccg	6	14	7	14	1	4	0	2	0	2	0	7	1	6	1	2	2	2	2	2	2	2	4			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr2:101019055C>A	ENST00000264249.3	-	4	548	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	CHST10_ENST00000542617.1_Nonsense_Mutation_p.E103*|CHST10_ENST00000409701.1_Nonsense_Mutation_p.E55*	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	55					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						TGCTTCTCTTCTGGCAACTTC	0.542																																							0											0													186	153	164					2																	101019055		2203	4300	6503	SO:0001587	stop_gained	0			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.163G>T	2.37:g.101019055C>A	ENSP00000264249:p.Glu55*		Q53T18	Nonsense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.E103*	ENST00000264249.3	37	c.307	CCDS2047.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.840572	0.97877	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858;ENST00000448989;ENST00000421474;ENST00000418201	.	.	.	5.75	4.87	0.63330	.	0.520879	0.21107	N	0.080046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-7.2084	10.6038	0.45381	0.0:0.8511:0.0:0.1489	.	.	.	.	X	55;103;55;55;55;103;55;55	.	ENSP00000264249:E55X	E	-	1	0	CHST10	100385487	0.098000	0.21812	0.750000	0.31169	0.951000	0.60555	0.721000	0.25911	1.428000	0.47296	0.655000	0.94253	GAA	0	NULL		0.542	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	protein_coding	OTTHUMT00000253162.1	30	125	0	0.00	0	0	C	NM_004854	0	0		101019055	-1	no_errors	ENST00000542617	ensembl	human	known	74_37	nonsense	28	73	9.68	22.11	3	21	SNP	0.919	A	A	101019055	C	A	101019055	4	1	29	1	0	0	0	0	0	1	0	0	3398	922	32	5	923	5	CHST10	2	101019055	Nonsense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	30952420	101019055	142180318	8	302											
ANO7	50636	genome.wustl.edu	37	chr2	242149889	242149889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtctcccgttaggcctctCgcatcgccagcctcacgggg	4	9	11	17	4	3	0	1	0	2	0	6	0	3	0	4	3	1	2	4	3	1	1	rs184837414	byFrequency	TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr2:242149889C>T	ENST00000274979.8	+	15	1730	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	ANO7_ENST00000402430.3_Missense_Mutation_p.R542C	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	543					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)	p.R543C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TTAGGCCTCTCGCATCGCCAG	0.637													C|||	2	0.000399361	0	0.0014	5008	,	,		16885	0		0.001	False		,,,				2504	0						0											1	Substitution - Missense(1)	lung(1)											96	83	87					2																	242149889		2203	4300	6503	SO:0001583	missense	0			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.1627C>T	2.37:g.242149889C>T	ENSP00000274979:p.Arg543Cys		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.R543C	ENST00000274979.8	37	c.1627	CCDS33423.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.68	2.012072	0.35511	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.64618	-0.11;-0.11	3.49	0.146	0.14833	.	1.252990	0.05724	N	0.598293	T	0.73860	0.3641	L	0.58669	1.825	0.09310	N	0.999999	D	0.76494	0.999	D	0.67725	0.953	T	0.61426	-0.7065	10	0.38643	T	0.18	.	11.0423	0.47838	0.6442:0.3558:0.0:0.0	.	543	Q6IWH7	ANO7_HUMAN	C	543;542	ENSP00000274979:R543C;ENSP00000385418:R542C	ENSP00000274979:R543C	R	+	1	0	ANO7	241798562	0.003000	0.15002	0.000000	0.03702	0.123000	0.20343	-0.039000	0.12124	-0.263000	0.09378	0.313000	0.20887	CGC	0	pfam_Anoctamin		0.637	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	protein_coding	OTTHUMT00000323509.1	26	150	0	0.00	0	0	C	NM_001001891	rs184837414	C->G,T		242149889	1	no_errors	ENST00000274979	ensembl	human	known	74_37	missense	17	103	29.17	20.16	7	26	SNP	0	T	T	242149889	C	T	242149889	3	4	29	1	0	0	0	0	1	0	0	0	702	884	31	2	1757	2	ANO7	2	242149889	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	141130834	242149889	1049484	9	303											
SCAP	22937	genome.wustl.edu	37	chr3	47455441	47455441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagcaccaggatctggCgggcaggctgggcctcactg	6	7	15	13	1	2	0	1	0	1	0	3	1	3	1	3	5	1	3	3	5	0	0	rs185806499		TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr3:47455441C>T	ENST00000265565.5	-	23	4155	c.3743G>A	c.(3742-3744)cGc>cAc	p.R1248H	SCAP_ENST00000441517.2_Missense_Mutation_p.R992H|SCAP_ENST00000545718.1_Missense_Mutation_p.R855H	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1248	Interaction with SREBF2. {ECO:0000250}.				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)		CAGGATCTGGCGGGCAGGCTG	0.592													C|||	1	0.000199681	0	0	5008	,	,		19300	0		0.001	False		,,,				2504	0				Pancreas(149;978 1908 29304 37806 46700)		0.9998,0.0001997											0													153	155	155					3																	47455441		2203	4300	6503	SO:0001583	missense	0			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.3743G>A	3.37:g.47455441C>T	ENSP00000265565:p.Arg1248His		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.R1248H	ENST00000265565.5	37	c.3743	CCDS2755.2	3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.7	4.941794	0.92526	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.81078	-1.45;-1.39;0.75	5.2	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.83041	0.5168	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.975	T	0.79614	-0.1730	10	0.21014	T	0.42	-29.2504	13.387	0.60801	0.0:0.9239:0.0:0.0761	.	992;1248	F8W921;Q12770	.;SCAP_HUMAN	H	740;874;1248;992;855	ENSP00000265565:R1248H;ENSP00000416847:R992H;ENSP00000438956:R855H	ENSP00000265565:R1248H	R	-	2	0	SCAP	47430445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.296000	0.78790	1.426000	0.47256	0.655000	0.94253	CGC	0	NULL		0.592	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	protein_coding	OTTHUMT00000246872.2	54	118	0	0.00	0	0	C	NM_012235	rs185806499	C->T		47455441	-1	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	22	92	43.9	46.20	18	79	SNP	1	T	T	47455441	C	T	47455441	3	4	29	1	0	0	0	0	1	0	0	0	13877	768	27	1	100	1	SCAP	3	47455441	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09		47455441	150566989	10	304											
EVC2	132884	genome.wustl.edu	37	chr4	5642519	5642519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgatttgtgttcgacAagcctccagatctgcatctg	7	14	9	11	1	2	2	0	1	2	1	4	3	3	2	2	0	3	3	2	0	1	3			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr4:5642519A>G	ENST00000344408.5	-	10	1245	c.1192T>C	c.(1192-1194)Tgt>Cgt	p.C398R	EVC2_ENST00000344938.1_Missense_Mutation_p.C398R|EVC2_ENST00000310917.2_Missense_Mutation_p.C318R	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	398					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						tgtgttcgacaagCCTCCAGA	0.443																																							0											0													84	84	84					4																	5642519		2203	4300	6503	SO:0001583	missense	0			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.1192T>C	4.37:g.5642519A>G	ENSP00000342144:p.Cys398Arg		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.C398R	ENST00000344408.5	37	c.1192	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204769	0.38905	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.76839	-1.05;-1.05;-1.05	4.19	2.99	0.34606	.	0.511281	0.19203	N	0.120122	T	0.81128	0.4758	M	0.67953	2.075	0.49483	D	0.999795	D	0.64830	0.994	D	0.63703	0.917	T	0.77183	-0.2681	10	0.23891	T	0.37	-9.9544	5.2774	0.15657	0.7494:0.0:0.0921:0.1585	.	398	Q86UK5	LBN_HUMAN	R	398;318;398	ENSP00000339954:C398R;ENSP00000311683:C318R;ENSP00000342144:C398R	ENSP00000311683:C318R	C	-	1	0	EVC2	5693420	0.948000	0.32251	1.000000	0.80357	0.281000	0.26958	2.240000	0.43088	1.657000	0.50732	0.482000	0.46254	TGT	0	pfam_Limbin		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	protein_coding	OTTHUMT00000289822.2	33	151	0	0.66	0	1	A	NM_147127	0	0		5642519	-1	no_errors	ENST00000344408	ensembl	human	known	74_37	missense	19	102	54.76	40.00	23	68	SNP	0.991	G	G	5642519	A	G	5642519	3	3	29	1	0	0	0	0	1	0	0	0	5286	130	5	3	2786	3	EVC2	4	5642519	Missense_Mutation	SNP	A	TCGA-5U-AB0D-01A-11D-A423-09		5642519	185511757	11	305											
SORCS2	57537	genome.wustl.edu	37	chr4	7533320	7533320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggtgtcaccaccgtcatCgacaatttctacatctgccc	8	11	6	16	2	4	0	2	0	2	0	5	1	4	0	4	1	2	0	4	1	2	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr4:7533320C>T	ENST00000507866.2	+	3	721	c.612C>T	c.(610-612)atC>atT	p.I204I	SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_Silent_p.I32I	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	204					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						CCACCGTCATCGACAATTTCT	0.607																																							0											0													88	100	96					4																	7533320		2095	4199	6294	SO:0001819	synonymous_variant	0			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.612C>T	4.37:g.7533320C>T			Q9P2L7	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.I204	ENST00000507866.2	37	c.612	CCDS47008.1	4																																																																																			0	smart_VPS10		0.607	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	protein_coding	OTTHUMT00000358685.4	32	181	0	0.00	0	0	C	NM_020777	0	0		7533320	1	no_errors	ENST00000507866	ensembl	human	known	74_37	silent	21	173	27.59	13.07	8	26	SNP	0.983	T	T	7533320	C	T	7533320	2	4	29	1	0	0	0	0	0	0	0	1	14931	874	31	2		2	SORCS2	4	7533320	Silent	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	1890801	7533320	183620956	12	306											
GNPDA2	132789	genome.wustl.edu	37	chr4	44719295	44719295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataagaatggtagctttcagGatgatttcttggaagtccta	12	14	10	5	0	2	2	1	1	1	1	3	4	3	4	1	3	1	2	1	3	5	6			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr4:44719295G>T	ENST00000295448.3	-	4	400	c.244C>A	c.(244-246)Cct>Act	p.P82T	GNPDA2_ENST00000509756.1_Missense_Mutation_p.P82T|GNPDA2_ENST00000507534.1_Missense_Mutation_p.P12T|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507917.1_Missense_Mutation_p.P48T	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	82					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TAGCTTTCAGGATGATTTCTT	0.279																																					Colon(54;743 1010 7604 16453 19544)		0											0													39	40	40					4																	44719295		2201	4295	6496	SO:0001583	missense	0			AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"glucosamine-6-phosphate isomerase"	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.244C>A	4.37:g.44719295G>T	ENSP00000295448:p.Pro82Thr		B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Missense_Mutation	SNP	pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase	p.P82T	ENST00000295448.3	37	c.244	CCDS3469.1	4	.	.	.	.	.	.	.	.	.	.	G	11.28	1.590714	0.28357	.	.	ENSG00000163281	ENST00000507917;ENST00000295448;ENST00000507534;ENST00000509756	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.84	4.99	0.66335	Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	H	0.96269	3.795	0.80722	D	1	B;B;B	0.25169	0.119;0.044;0.013	B;B;B	0.31337	0.128;0.074;0.034	T	0.72141	-0.4380	10	0.72032	D	0.01	-13.1603	16.0281	0.80558	0.0:0.1345:0.8655:0.0	.	48;82;82	Q2VYF1;Q8TDQ7-3;Q8TDQ7	.;.;GNPI2_HUMAN	T	48;82;12;82	ENSP00000425868:P48T;ENSP00000295448:P82T;ENSP00000427423:P12T;ENSP00000424061:P82T	ENSP00000295448:P82T	P	-	1	0	GNPDA2	44414052	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	9.476000	0.97823	1.465000	0.48006	0.591000	0.81541	CCT	0	pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase		0.279	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPDA2	protein_coding	OTTHUMT00000216874.3	70	173	0	0.00	0	0	G	NM_138335	0	0		44719295	-1	no_errors	ENST00000295448	ensembl	human	known	74_37	missense	205	288	18.58	17.48	47	61	SNP	1	T	T	44719295	G	T	44719295	3	4	29	1	0	0	0	0	1	0	0	0	6543	1174	41	5	602	5	GNPDA2	4	44719295	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	37185975	44719295	146434981	13	307											
AFF1	4299	genome.wustl.edu	37	chr4	88047346	88047346	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagccaagcctgcacttaAgaggtcaaggcgggaagcag	12	4	14	11	1	1	1	1	0	0	1	1	2	1	2	3	3	4	2	3	3	4	1			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr4:88047346A>C	ENST00000307808.6	+	13	3068	c.2648A>C	c.(2647-2649)aAg>aCg	p.K883T	AFF1_ENST00000395146.4_Missense_Mutation_p.K890T|AFF1_ENST00000544085.1_Missense_Mutation_p.K521T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	883					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCTGCACTTAAGAGGTCAAGG	0.592																																							0											0													76	74	75					4																	88047346		2203	4300	6503	SO:0001583	missense	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2648A>C	4.37:g.88047346A>C	ENSP00000305689:p.Lys883Thr		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.K890T	ENST00000307808.6	37	c.2669	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204611	0.38905	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.70399	-0.48;-0.48;-0.48	5.65	5.65	0.86999	.	0.069047	0.64402	D	0.000017	D	0.83018	0.5163	M	0.80422	2.495	0.51767	D	0.999932	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.68039	0.955;0.955;0.955	T	0.81588	-0.0864	10	0.24483	T	0.36	-25.8797	15.5512	0.76155	1.0:0.0:0.0:0.0	.	890;883;883	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	T	890;883;521	ENSP00000378578:K890T;ENSP00000305689:K883T;ENSP00000440843:K521T	ENSP00000305689:K883T	K	+	2	0	AFF1	88266370	1.000000	0.71417	0.944000	0.38274	0.020000	0.10135	6.178000	0.71968	2.150000	0.67090	0.528000	0.53228	AAG	0	pfam_TF_AF4/FMR2		0.592	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	protein_coding	OTTHUMT00000253053.3	41	119	0	0.00	0	0	A	NM_005935	0	0		88047346	1	no_errors	ENST00000395146	ensembl	human	known	74_37	missense	37	121	9.76	19.87	4	30	SNP	0.997	C	C	88047346	A	C	88047346	3	2	29	1	0	0	0	0	1	0	0	0	356	72	3	5	2740	5	AFF1	4	88047346	Missense_Mutation	SNP	A	TCGA-5U-AB0D-01A-11D-A423-09	43328051	88047346	103106930	14	308											
C4orf45	152940	genome.wustl.edu	37	chr4	159956214	159956214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatttgttttcccacagtaGtagatgttggcttttggtat	7	19	9	6	0	1	1	1	0	0	1	2	1	2	1	1	2	0	6	1	2	3	9			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr4:159956214G>T	ENST00000434826.2	-	1	119	c.35C>A	c.(34-36)aCt>aAt	p.T12N	C4orf45_ENST00000508011.1_Intron	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	12										large_intestine(2)|lung(3)	5						TCCCACAGTAGTAGATGTTGG	0.353																																							0											0													113	107	109					4																	159956214		1833	4087	5920	SO:0001583	missense	0				CCDS47156.1	4q32.1	2012-03-02			ENSG00000164123	ENSG00000164123			26342	protein-coding gene	gene with protein product							Standard	NM_152543		Approved	FLJ25371	uc003iqf.1	Q96LM5	OTTHUMG00000161988	ENST00000434826.2:c.35C>A	4.37:g.159956214G>T	ENSP00000412215:p.Thr12Asn		A8MPU3|C9J0T8	Missense_Mutation	SNP	NULL	p.T12N	ENST00000434826.2	37	c.35	CCDS47156.1	4	.	.	.	.	.	.	.	.	.	.	G	6.128	0.391800	0.11581	.	.	ENSG00000164123	ENST00000434826	T	0.13901	2.55	4.86	3.92	0.45320	.	1.480650	0.04006	N	0.297340	T	0.12008	0.0292	N	0.25647	0.755	0.09310	N	1	P	0.36535	0.557	B	0.33521	0.165	T	0.34354	-0.9832	9	.	.	.	0.5257	10.0085	0.41972	0.0:0.0:0.7214:0.2786	.	12	Q96LM5	CD045_HUMAN	N	12	ENSP00000412215:T12N	.	T	-	2	0	C4orf45	160175664	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	0.557000	0.23454	0.951000	0.37770	0.655000	0.94253	ACT	0	NULL		0.353	C4orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf45	protein_coding	OTTHUMT00000366636.1	38	245	0	0.00	0	0	G	NM_152543	0	0		159956214	-1	no_errors	ENST00000434826	ensembl	human	known	74_37	missense	53	229	40.45	37.67	36	139	SNP	0.002	T	T	159956214	G	T	159956214	3	4	29	1	0	0	0	0	1	0	0	0	2273	1029	36	5	545	5	C4orf45	4	159956214	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	71908868	159956214	31198062	15	309											
SLC45A2	51151	genome.wustl.edu	37	chr5	33982460	33982460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaatcaaagagaacgacaCctatcatggtgacacttatg	17	8	7	9	1	2	2	2	1	0	1	2	4	2	2	1	1	1	0	1	1	6	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr5:33982460C>T	ENST00000296589.4	-	2	589	c.443G>A	c.(442-444)gGt>gAt	p.G148D	SLC45A2_ENST00000382102.3_Missense_Mutation_p.G148D|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000345083.5_Missense_Mutation_p.G148D|SLC45A2_ENST00000509381.1_Missense_Mutation_p.G148D	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	148					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						GAGAACGACACCTATCATGGT	0.443																																					Ovarian(31;380 859 8490 22203 49048)		0											0													106	100	102					5																	33982460		2203	4300	6503	SO:0001583	missense	0			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.443G>A	5.37:g.33982460C>T	ENSP00000296589:p.Gly148Asp		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G148D	ENST00000296589.4	37	c.443	CCDS3901.1	5	.	.	.	.	.	.	.	.	.	.	C	31	5.058744	0.93846	.	.	ENSG00000164175	ENST00000296589;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	5.33	5.33	0.75918	Major facilitator superfamily domain, general substrate transporter (1);	0.094954	0.85682	D	0.000000	D	0.98635	0.9543	M	0.92459	3.31	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	0.99461	1.0943	10	0.87932	D	0	-32.5789	19.3847	0.94551	0.0:1.0:0.0:0.0	.	148;148;148	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	D	148	ENSP00000296589:G148D;ENSP00000371534:G148D;ENSP00000421100:G148D;ENSP00000340444:G148D	ENSP00000296589:G148D	G	-	2	0	SLC45A2	34018217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.762000	0.85270	2.670000	0.90874	0.643000	0.83706	GGT	0	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.443	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	protein_coding	OTTHUMT00000207443.2	16	224	0	0.00	0	0	C	NM_016180	0	0		33982460	-1	no_errors	ENST00000296589	ensembl	human	known	74_37	missense	22	305	24.14	13.80	7	49	SNP	1	T	T	33982460	C	T	33982460	3	4	29	1	0	0	0	0	1	0	0	0	14641	507	18	3	1188	3	SLC45A2	5	33982460	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09		33982460	146932800	16	310											
RIOK2	55781	genome.wustl.edu	37	chr5	96503452	96503452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcctttatttgttcaggGtctccagatgatctgcaata	8	17	7	9	0	4	2	1	1	3	1	6	2	5	2	2	1	1	2	2	1	3	6			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr5:96503452G>T	ENST00000283109.3	-	8	1184	c.1116C>A	c.(1114-1116)gaC>gaA	p.D372E	RIOK2_ENST00000508447.1_Missense_Mutation_p.D372E|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	372	Protein kinase.						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)		TTTGTTCAGGGTCTCCAGATG	0.413																																							0											0													111	108	109					5																	96503452		2203	4300	6503	SO:0001583	missense	0			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.1116C>A	5.37:g.96503452G>T	ENSP00000283109:p.Asp372Glu		D6RDI3|Q9NUT0	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase	p.D372E	ENST00000283109.3	37	c.1116	CCDS4089.1	5	.	.	.	.	.	.	.	.	.	.	G	9.400	1.077705	0.20227	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.20598	2.06;2.06	6.07	2.21	0.28008	.	0.805437	0.11742	N	0.533961	T	0.17195	0.0413	M	0.68952	2.095	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.46205	-0.9208	10	0.05721	T	0.95	-2.195	4.8591	0.13573	0.2398:0.0:0.4999:0.2603	.	372;372	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	E	372	ENSP00000283109:D372E;ENSP00000420932:D372E	ENSP00000283109:D372E	D	-	3	2	RIOK2	96529208	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.350000	0.07721	0.114000	0.18032	0.585000	0.79938	GAC	0	NULL		0.413	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK2	protein_coding	OTTHUMT00000250628.1	39	153	0	0.00	0	0	G	NM_018343	0	0		96503452	-1	no_errors	ENST00000283109	ensembl	human	known	74_37	missense	32	139	38.46	37.67	20	84	SNP	0	T	T	96503452	G	T	96503452	3	4	29	1	0	0	0	0	1	0	0	0	13378	1252	44	5	582	5	RIOK2	5	96503452	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	62520992	96503452	84411808	17	311											
PCDHA10	56139	genome.wustl.edu	37	chr5	140237615	140237615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccgtcgctgacggccaCggccactgtgcttgtgtcgc	4	8	14	15	6	0	1	0	1	0	0	2	2	0	1	3	2	2	2	3	2	0	1	rs534379807		TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr5:140237615C>T	ENST00000307360.5	+	1	1982	c.1982C>T	c.(1981-1983)aCg>aTg	p.T661M	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	661	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)	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)			CTGACGGCCACGGCCACTGTG	0.682													.|||	1	0.000199681	0	0	5008	,	,		14417	0		0.001	False		,,,				2504	0						0.9998,0.0001997											0													14	19	17					5																	140237615		1320	2285	3605	SO:0001583	missense	0			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.1982C>T	5.37:g.140237615C>T	ENSP00000304234:p.Thr661Met		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T661M	ENST00000307360.5	37	c.1982	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145363	0.37825	.	.	ENSG00000250120	ENST00000307360	T	0.57107	0.42	3.49	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77678	0.4166	H	0.94620	3.56	0.25757	N	0.984983	D;D	0.89917	0.999;1.0	P;D	0.83275	0.903;0.996	T	0.67741	-0.5592	9	0.72032	D	0.01	.	9.4094	0.38482	0.0:0.8997:0.0:0.1003	.	661;661	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	M	661	ENSP00000304234:T661M	ENSP00000304234:T661M	T	+	2	0	PCDHA10	140217799	0.960000	0.32886	0.983000	0.44433	0.308000	0.27856	3.214000	0.51161	1.932000	0.55993	0.491000	0.48974	ACG	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	protein_coding	OTTHUMT00000372895.2	50	39	0	0.00	0	0	C	NM_018901	rs534379807	C->T		140237615	1	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	32	38	42.86	39.06	24	25	SNP	0.993	T	T	140237615	C	T	140237615	3	4	29	1	0	0	0	0	1	0	0	0	11520	536	19	1	1984	1	PCDHA10	5	140237615	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	43734163	140237615	40677645	18	312											
PCDHGA5	56110	genome.wustl.edu	37	chr5	140744606	140744606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacggtcctcgacgcaaacGacaatgcgcccctgttcacc	9	8	8	16	5	1	0	1	0	0	0	3	2	2	0	4	1	3	2	4	1	3	2	rs577848371		TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr5:140744606G>A	ENST00000518069.1	+	1	709	c.709G>A	c.(709-711)Gac>Aac	p.D237N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	237	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)|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)			CGACGCAAACGACAATGCGCC	0.582																																							0											0													84	84	84					5																	140744606		2080	4216	6296	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.709G>A	5.37:g.140744606G>A	ENSP00000429834:p.Asp237Asn		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D237N	ENST00000518069.1	37	c.709	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	18.47	3.631228	0.67015	.	.	ENSG00000253485	ENST00000518069	T	0.71579	-0.58	5.4	5.4	0.78164	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.90971	0.7161	H	0.98351	4.21	0.43259	D	0.995192	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94163	0.7416	9	0.87932	D	0	.	19.1425	0.93451	0.0:0.0:1.0:0.0	.	237;237	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	N	237	ENSP00000429834:D237N	ENSP00000429834:D237N	D	+	1	0	PCDHGA5	140724790	1.000000	0.71417	0.930000	0.37139	0.128000	0.20619	9.813000	0.99286	2.692000	0.91855	0.467000	0.42956	GAC	0	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.582	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	protein_coding	OTTHUMT00000374742.1	15	147	0	0.00	0	0	G	NM_018918	0	0		140744606	1	no_errors	ENST00000518069	ensembl	human	known	74_37	missense	25	149	44.44	35.50	20	82	SNP	1	A	A	140744606	G	A	140744606	3	1	29	1	0	0	0	0	1	0	0	0	11557	1058	37	2	711	2	PCDHGA5	5	140744606	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	506991	140744606	40170654	19	313											
SOX4	6659	genome.wustl.edu	37	chr6	21595973	21595974	+	Frame_Shift_Ins	INS	-	-	CGAC																															tccgacgacgagttcgaagaINScgacctgctcgacctgaacc																										TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	-	-	-	CGAC	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr6:21595973_21595974insCGAC	ENST00000244745.1	+	1	2002_2003	c.1208_1209insCGAC	c.(1207-1212)gacgacfs	p.-404fs	SOX4_ENST00000543472.1_Frame_Shift_Ins_p.-404fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4						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)			GAGTTCGAAGACGACCTGCTCG	0.644																																							0											0																																										SO:0001589	frameshift_variant	0			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.1209_1212dupCGAC	6.37:g.21595974_21595977dupCGAC	ENSP00000244745:p.Asp404fs			Frame_Shift_Ins	INS	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.L405fs	ENST00000244745.1	37	c.1208_1209	CCDS4547.1	6																																																																																			0	pirsf_SOX-12/11/4a		0.644	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX4	protein_coding	OTTHUMT00000043301.1	70	90	0	0.00	0	0	0	NM_003107	0	0		21595974	1	no_errors	ENST00000244745	ensembl	human	known	74_37	frame_shift_ins	6	29	76	54.69	19	35	INS	1.000:1.000	CGAC	CGAC	21595974	-	CGAC	21595973	7	5	29	1	0	1	1	0	0	0	0	0	14953	275	10	0	1210	0	SOX4	6	21595973	Frame_Shift_Ins	INS	-	TCGA-5U-AB0D-01A-11D-A423-09		21595973	149519094	20	314											
SLC17A4	10050	genome.wustl.edu	37	chr6	25776847	25776847	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatcctgtctgccttgccgTttgttgttggatgtatctgc	3	17	12	9	1	2	0	0	0	2	0	3	2	3	2	3	2	3	4	3	2	1	5			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr6:25776847T>C	ENST00000377905.4	+	9	1131	c.1012T>C	c.(1012-1014)Ttt>Ctt	p.F338L	SLC17A4_ENST00000397076.2_Missense_Mutation_p.F108L|SLC17A4_ENST00000439485.2_Missense_Mutation_p.F108L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	338					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						TGCCTTGCCGTTTGTTGTTGG	0.507																																							0											0													284	265	271					6																	25776847		2203	4300	6503	SO:0001583	missense	0			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.1012T>C	6.37:g.25776847T>C	ENSP00000367137:p.Phe338Leu		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F338L	ENST00000377905.4	37	c.1012	CCDS4564.1	6	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981179	0.74474	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.58358	0.35;0.34;0.35	5.63	0.0894	0.14459	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.731744	0.12380	N	0.473990	T	0.22859	0.0552	L	0.48986	1.54	0.09310	N	1	B;B;B	0.26195	0.005;0.144;0.022	B;B;B	0.29598	0.011;0.091;0.104	T	0.30650	-0.9971	10	0.54805	T	0.06	.	4.2313	0.10604	0.1447:0.2768:0.0:0.5785	.	108;108;338	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	L	338;108;108	ENSP00000367137:F338L;ENSP00000391345:F108L;ENSP00000380266:F108L	ENSP00000367137:F338L	F	+	1	0	SLC17A4	25884826	0.001000	0.12720	0.000000	0.03702	0.954000	0.61252	1.050000	0.30404	0.089000	0.17243	0.533000	0.62120	TTT	0	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.507	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	protein_coding	OTTHUMT00000040068.1	45	192	0	0.00	0	0	T		0	0		25776847	1	no_errors	ENST00000377905	ensembl	human	known	74_37	missense	7	52	65	61.31	13	84	SNP	0	C	C	25776847	T	C	25776847	3	2	29	1	0	0	0	0	1	0	0	0	14419	1725	60	3	1042	3	SLC17A4	6	25776847	Missense_Mutation	SNP	T	TCGA-5U-AB0D-01A-11D-A423-09	4180874	25776847	145338220	21	315											
GPR126	57211	genome.wustl.edu	37	chr6	142740971	142740971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttaagctgttggattcaaGatccagtcatattttatgtg	10	18	8	5	0	2	1	2	0	0	1	3	2	3	2	1	1	1	2	1	1	4	7			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr6:142740971G>A	ENST00000230173.6	+	22	3525	c.3049G>A	c.(3049-3051)Gat>Aat	p.D1017N	GPR126_ENST00000296932.8_Missense_Mutation_p.D989N|GPR126_ENST00000367609.3_Missense_Mutation_p.D1017N|GPR126_ENST00000367608.2_Missense_Mutation_p.D989N	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1017					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)		TTGGATTCAAGATCCAGTCAT	0.368																																							0											0													130	111	117					6																	142740971		1849	4086	5935	SO:0001583	missense	0			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.3049G>A	6.37:g.142740971G>A	ENSP00000230173:p.Asp1017Asn		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.D1017N	ENST00000230173.6	37	c.3049	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	G	10.05	1.242887	0.22796	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.71	5.71	0.89125	GPCR, family 2-like (1);	0.080746	0.52532	D	0.000061	T	0.08492	0.0211	N	0.05158	-0.105	0.32001	N	0.603403	B;B;B;B;B	0.21225	0.004;0.043;0.043;0.043;0.053	B;B;B;B;B	0.27262	0.013;0.027;0.027;0.047;0.078	T	0.16867	-1.0388	10	0.25751	T	0.34	.	9.9972	0.41907	0.155:0.0:0.845:0.0	.	77;989;1017;989;1017	B4DSK4;Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;.;GP126_HUMAN	N	1017;989;989;1017	ENSP00000230173:D1017N;ENSP00000356580:D989N;ENSP00000296932:D989N;ENSP00000356581:D1017N	ENSP00000230173:D1017N	D	+	1	0	GPR126	142782664	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.946000	0.56644	2.683000	0.91414	0.650000	0.86243	GAT	0	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.368	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	protein_coding	OTTHUMT00000042487.2	61	138	0	0.00	0	0	G		0	0		142740971	1	no_errors	ENST00000367609	ensembl	human	known	74_37	missense	29	80	36.96	28.57	17	32	SNP	0.959	A	A	142740971	G	A	142740971	3	1	29	1	0	0	0	0	1	0	0	0	6640	942	33	3	3135	3	GPR126	6	142740971	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	116964124	142740971	28374096	22	316											
PHF10	55274	genome.wustl.edu	37	chr6	170121100	170121100	+	Splice_Site	DEL	C	C	-																															taaccgataaaatgacagtaCccaagatcttgacttgaagt																										TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr6:170121100delC	ENST00000339209.4	-	2	318		c.e2+1		PHF10_ENST00000464779.1_5'Flank|PHF10_ENST00000366780.4_Splice_Site	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10						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)		AATGACAGTACCCAAGATCTT	0.403																																							0											0													126	111	115					6																	170121100		692	1591	2283	SO:0001630	splice_region_variant	0			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.194+1G>-	6.37:g.170121100delC			Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Splice_Site	DEL	0	e2+1	ENST00000339209.4	37	c.194+1	CCDS5308.2	6																																																																																			0	0		0.403	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF10	protein_coding	OTTHUMT00000346732.1	36	213	0	0.00	0	0	C	NM_018288	0	0	Intron	170121100	-1	no_errors	ENST00000339209	ensembl	human	known	74_37	splice_site_del	17	82	61.36	66.67	27	164	DEL	1	0	-	170121100	C	-	170121100	8	5	29	1	0	1	0	1	0	0	1	0	11821	521	18	0	1345	0	PHF10	6	170121100	Splice_Site	DEL	C	TCGA-5U-AB0D-01A-11D-A423-09	27380129	170121100	993967	23	317											
ZNF479	90827	genome.wustl.edu	37	chr7	57194325	57194325	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaggtttctgtagttcTctaacatcacatctctatat	11	15	5	10	0	4	1	1	0	3	1	6	1	4	1	1	1	1	3	1	1	4	6			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr7:57194325T>A	ENST00000331162.4	-	3	410	c.140A>T	c.(139-141)gAg>gTg	p.E47V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	47	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)|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)			TCTGTAGTTCTCTAACATCAC	0.388																																							0											0													87	89	88					7																	57194325		2198	4297	6495	SO:0001583	missense	0			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.140A>T	7.37:g.57194325T>A	ENSP00000333776:p.Glu47Val			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.E47V	ENST00000331162.4	37	c.140	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	t	14.05	2.419216	0.42918	.	.	ENSG00000185177	ENST00000331162	T	0.04551	3.6	1.25	1.25	0.21368	Krueppel-associated box (4);	.	.	.	.	T	0.36963	0.0986	H	0.99894	4.905	0.27146	N	0.961525	D	0.89917	1.0	D	0.87578	0.998	T	0.30851	-0.9964	9	0.87932	D	0	.	6.2934	0.21073	0.0:0.0:0.0:1.0	.	47	Q96JC4	ZN479_HUMAN	V	47	ENSP00000333776:E47V	ENSP00000333776:E47V	E	-	2	0	ZNF479	57198267	0.578000	0.26717	0.947000	0.38551	0.860000	0.49131	0.387000	0.20718	0.558000	0.29135	0.324000	0.21423	GAG	0	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.388	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	protein_coding	OTTHUMT00000345302.1	74	18	0	0.00	0	0	T	XM_291202	0	0		57194325	-1	no_errors	ENST00000331162	ensembl	human	known	74_37	missense	155	15	36.99	34.78	91	8	SNP	0.996	A	A	57194325	T	A	57194325	3	1	29	1	0	0	0	0	1	0	0	0	17930	1551	54	5	1446	5	ZNF479	7	57194325	Missense_Mutation	SNP	T	TCGA-5U-AB0D-01A-11D-A423-09		57194325	101944338	24	318											
ZNF716	441234	genome.wustl.edu	37	chr7	57528596	57528596	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcacaaaggaggttataaTtatgttaaccaatgtttgtc	13	14	9	5	0	0	0	0	0	0	0	1	1	0	1	1	2	2	4	1	2	6	5			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr7:57528596T>C	ENST00000420713.1	+	4	541	c.429T>C	c.(427-429)aaT>aaC	p.N143N		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	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)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAGGTTATAATTATGTTAACC	0.343																																							0											0													212	201	204					7																	57528596		692	1591	2283	SO:0001819	synonymous_variant	0			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.429T>C	7.37:g.57528596T>C				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.N143	ENST00000420713.1	37	c.429	CCDS55112.1	7																																																																																			0	NULL		0.343	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	protein_coding	OTTHUMT00000345309.1	51	147	0	0.00	0	0	T	NM_001159279	0	0		57528596	1	no_errors	ENST00000420713	ensembl	human	known	74_37	silent	128	147	22.42	23.71	37	46	SNP	0	C	C	57528596	T	C	57528596	2	2	29	1	0	0	0	0	0	0	0	1	18116	1490	52	3		3	ZNF716	7	57528596	Silent	SNP	T	TCGA-5U-AB0D-01A-11D-A423-09	334271	57528596	101610067	25	319											
PRUNE2	158471	genome.wustl.edu	37	chr9	79325399	79325399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtattttttagcctttctggGgaaggggattcatctcccac	7	15	10	9	0	3	0	1	0	2	0	4	2	3	2	2	4	1	1	2	4	3	6			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr9:79325399G>A	ENST00000376718.3	-	8	1914	c.1791C>T	c.(1789-1791)tcC>tcT	p.S597S	PRUNE2_ENST00000428286.1_Silent_p.S238S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	597					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						GCCTTTCTGGGGAAGGGGATT	0.443																																							0											0													76	68	71					9																	79325399		1568	3582	5150	SO:0001819	synonymous_variant	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1791C>T	9.37:g.79325399G>A			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S238	ENST00000376718.3	37	c.714	CCDS47982.1	9																																																																																			0	NULL		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	protein_coding	OTTHUMT00000052730.2	56	216	0	0.46	0	1	G	NM_138818	0	0		79325399	-1	no_errors	ENST00000428286	ensembl	human	known	74_37	silent	40	225	32.2	36.69	19	131	SNP	0.001	A	A	79325399	G	A	79325399	2	1	29	1	0	0	0	0	0	0	0	1	12641	1219	43	3		3	PRUNE2	9	79325399	Silent	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09		79325399	61888032	26	320											
ZNF189	7743	genome.wustl.edu	37	chr9	104170453	104170453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgttcagagaaaacactAacattatccgtaaaagacca	19	8	6	8	1	1	2	1	0	0	2	2	4	2	2	2	0	2	2	2	0	7	4			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr9:104170453A>G	ENST00000339664.2	+	3	532	c.403A>G	c.(403-405)Aac>Gac	p.N135D	ZNF189_ENST00000374861.3_Missense_Mutation_p.N121D|ZNF189_ENST00000259395.4_Missense_Mutation_p.N93D	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	135					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGAAAACACTAACATTATCCG	0.393																																							0											0													66	65	65					9																	104170453		2203	4300	6503	SO:0001583	missense	0			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.403A>G	9.37:g.104170453A>G	ENSP00000342019:p.Asn135Asp		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	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.N135D	ENST00000339664.2	37	c.403	CCDS6754.1	9	.	.	.	.	.	.	.	.	.	.	A	7.723	0.697500	0.15106	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.05382	3.52;3.53;3.45	4.66	4.66	0.58398	.	0.119463	0.38217	N	0.001776	T	0.04770	0.0129	N	0.21097	0.63	0.27545	N	0.950685	B;B;P	0.42409	0.002;0.031;0.779	B;B;B	0.34873	0.006;0.008;0.191	T	0.28839	-1.0031	10	0.59425	D	0.04	.	12.7134	0.57102	1.0:0.0:0.0:0.0	.	120;121;135	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	D	121;135;93	ENSP00000363995:N121D;ENSP00000342019:N135D;ENSP00000259395:N93D	ENSP00000259395:N93D	N	+	1	0	ZNF189	103210274	0.000000	0.05858	0.994000	0.49952	0.942000	0.58702	1.057000	0.30492	2.317000	0.78254	0.460000	0.39030	AAC	0	NULL		0.393	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF189	protein_coding	OTTHUMT00000053447.1	31	179	0	0.00	0	0	A	NM_003452	0	0		104170453	1	no_errors	ENST00000339664	ensembl	human	known	74_37	missense	56	209	48.62	40.29	53	141	SNP	0.92	G	G	104170453	A	G	104170453	3	3	29	1	0	0	0	0	1	0	0	0	17751	362	13	3	413	3	ZNF189	9	104170453	Missense_Mutation	SNP	A	TCGA-5U-AB0D-01A-11D-A423-09	24845054	104170453	37042978	27	321											
TMEM38B	55151	genome.wustl.edu	37	chr9	108483845	108483845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatttttttgcccgcatgaCctagtttcccagggctattc	7	15	7	12	1	0	1	0	1	0	0	2	1	1	1	3	1	1	3	3	1	2	7			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr9:108483845C>A	ENST00000374692.3	+	3	414	c.297C>A	c.(295-297)gaC>gaA	p.D99E	TMEM38B_ENST00000374688.1_Missense_Mutation_p.D45E	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	99						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						GCCCGCATGACCTAGTTTCCC	0.358																																							0											0													84	78	80					9																	108483845		2202	4300	6502	SO:0001583	missense	0			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.297C>A	9.37:g.108483845C>A	ENSP00000363824:p.Asp99Glu		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	pfam_TRIC_channel	p.D99E	ENST00000374692.3	37	c.297	CCDS6768.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.29|16.29	3.081120|3.081120	0.55753|0.55753	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000374692;ENST00000374688|ENST00000435034	T;T|.	0.67171|.	-0.25;-0.02|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75221|0.75221	0.3820|0.3820	M|M	0.80982|0.80982	2.52|2.52	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.76154|0.76154	-0.3063|-0.3063	10|5	0.52906|.	T|.	0.07|.	-11.6845|-11.6845	12.2492|12.2492	0.54589|0.54589	0.0:0.9228:0.0:0.0772|0.0:0.9228:0.0:0.0772	.|.	99|.	Q9NVV0|.	TM38B_HUMAN|.	E|N	99;45|36	ENSP00000363824:D99E;ENSP00000363820:D45E|.	ENSP00000363820:D45E|.	D|T	+|+	3|2	2|0	TMEM38B|TMEM38B	107523666|107523666	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.138000|0.138000	0.21146|0.21146	2.284000|2.284000	0.43478|0.43478	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GAC|ACC	0	pfam_TRIC_channel		0.358	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38B	protein_coding	OTTHUMT00000053517.1	60	187	0	0.53	0	1	C	NM_018112	0	0		108483845	1	no_errors	ENST00000374692	ensembl	human	known	74_37	missense	60	248	25.93	16.78	21	50	SNP	1	A	A	108483845	C	A	108483845	3	1	29	1	0	0	0	0	1	0	0	0	16157	506	18	5	307	5	TMEM38B	9	108483845	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	4313392	108483845	32729586	28	322											
BSPRY	54836	genome.wustl.edu	37	chr9	116122940	116122940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagcgggtgcactgggccGaggcgctgcagaaacttgac	9	5	15	12	3	0	2	0	1	0	1	0	3	0	2	1	3	4	3	1	3	1	1	rs570967595		TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr9:116122940G>A	ENST00000374183.4	+	3	493	c.454G>A	c.(454-456)Gag>Aag	p.E152K	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	152					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCACTGGGCCGAGGCGCTGCA	0.612													G|||	1	0.000199681	0	0	5008	,	,		17783	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0													37	44	42					9																	116122940		2161	4267	6428	SO:0001583	missense	0			AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.454G>A	9.37:g.116122940G>A	ENSP00000363298:p.Glu152Lys		B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.E152K	ENST00000374183.4	37	c.454	CCDS43868.1	9	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862586	0.71949	.	.	ENSG00000119411	ENST00000374183	T	0.04502	3.61	5.84	5.84	0.93424	.	0.225061	0.46442	D	0.000289	T	0.05227	0.0139	N	0.24115	0.695	0.41741	D	0.989613	P;P	0.51791	0.948;0.847	B;B	0.40285	0.325;0.081	T	0.50021	-0.8876	10	0.38643	T	0.18	-19.2919	19.1242	0.93375	0.0:0.0:1.0:0.0	.	152;152	Q5W0U4-2;Q5W0U4	.;BSPRY_HUMAN	K	152	ENSP00000363298:E152K	ENSP00000363298:E152K	E	+	1	0	BSPRY	115162761	1.000000	0.71417	0.120000	0.21714	0.909000	0.53808	4.894000	0.63206	2.763000	0.94921	0.650000	0.86243	GAG	0	NULL		0.612	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSPRY	protein_coding	OTTHUMT00000055399.1	18	78	0	0.00	0	0	G	NM_017688	rs570967595	G->A		116122940	1	no_errors	ENST00000374183	ensembl	human	known	74_37	missense	11	78	26.67	21.21	4	21	SNP	0.994	A	A	116122940	G	A	116122940	3	1	29	1	0	0	0	0	1	0	0	0	1532	1059	37	2	464	2	BSPRY	9	116122940	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	7639095	116122940	25090491	29	323											
PTGES	9536	genome.wustl.edu	37	chr9	132502127	132502127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtagatggtctccatgtcGttccggtgggccctggggag	4	10	18	9	2	1	1	0	0	1	1	4	2	2	2	3	6	0	2	3	6	1	2	rs200924207		TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr9:132502127G>A	ENST00000340607.4	-	3	256	c.222C>T	c.(220-222)aaC>aaT	p.N74N	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	74	Glutathione binding.				acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				TCTCCATGTCGTTCCGGTGGG	0.572																																							0											0								G		0,4384		0,0,2192	58	38	45		222	-1.6	1	9		45	1,8577		0,1,4288	no	coding-synonymous	PTGES	NM_004878.4		0,1,6480	AA,AG,GG		0.0117,0.0,0.0077		74/153	132502127	1,12961	2192	4289	6481	SO:0001819	synonymous_variant	0			AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase 1-like 1", "tumor protein p53 inducible protein 12", "p53-induced gene 12", "microsomal prostaglandin E synthase-1", "glutathione S-transferase 1-like 1", "MGST1-like 1"	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.222C>T	9.37:g.132502127G>A			O14900|Q5SZC0	Silent	SNP	pfam_Membr-assoc_MAPEG	p.N74	ENST00000340607.4	37	c.222	CCDS6927.1	9																																																																																			0	pfam_Membr-assoc_MAPEG		0.572	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES	protein_coding	OTTHUMT00000054599.2	81	210	0	0.00	0	0	G	NM_004878	rs200924207	G->A		132502127	-1	no_errors	ENST00000340607	ensembl	human	known	74_37	silent	67	178	17.28	16.82	14	36	SNP	0.977	A	A	132502127	G	A	132502127	2	1	29	1	0	0	0	0	0	0	0	1	12746	1136	40	1		1	PTGES	9	132502127	Silent	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	16379187	132502127	8711304	30	324											
TAF3	83860	genome.wustl.edu	37	chr10	8019222	8019222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agataaaagtggaaccagtcGctctggccccgagtccagtt	11	8	11	11	2	1	1	0	0	1	1	3	3	2	2	4	2	1	2	4	2	3	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr10:8019222G>A	ENST00000344293.5	+	4	2457	c.2251G>A	c.(2251-2253)Gct>Act	p.A751T		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	751					maintenance of protein location in nucleus (GO:0051457)|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)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GGAACCAGTCGCTCTGGCCCC	0.438																																							0											0													81	81	81					10																	8019222		1849	4109	5958	SO:0001583	missense	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2251G>A	10.37:g.8019222G>A	ENSP00000340271:p.Ala751Thr		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A751T	ENST00000344293.5	37	c.2251	CCDS41487.1	10	.	.	.	.	.	.	.	.	.	.	G	8.559	0.877269	0.17395	.	.	ENSG00000165632	ENST00000344293	T	0.17370	2.28	6.05	3.18	0.36537	.	0.660669	0.14191	N	0.335343	T	0.09024	0.0223	N	0.19112	0.55	0.28015	N	0.934732	B	0.24426	0.103	B	0.14023	0.01	T	0.37709	-0.9694	10	0.13853	T	0.58	-5.8353	6.6217	0.22806	0.2064:0.1292:0.6644:0.0	.	751	Q5VWG9	TAF3_HUMAN	T	751	ENSP00000340271:A751T	ENSP00000340271:A751T	A	+	1	0	TAF3	8059228	1.000000	0.71417	0.033000	0.17914	0.012000	0.07955	2.562000	0.45914	0.420000	0.25954	-0.157000	0.13467	GCT	0	NULL		0.438	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	protein_coding	OTTHUMT00000046725.1	60	225	0	0.00	0	0	G	NM_031923	0	0		8019222	1	no_errors	ENST00000344293	ensembl	human	known	74_37	missense	28	124	50.88	47.90	29	114	SNP	0.953	A	A	8019222	G	A	8019222	3	1	29	1	0	0	0	0	1	0	0	0	15522	1087	38	1	2265	1	TAF3	10	8019222	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09		8019222	127515525	31	325											
SEC31B	25956	genome.wustl.edu	37	chr10	102247373	102247373	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaagagaggctgcctggtTtagaccagcagcttatgagc	11	8	13	9	0	0	3	0	1	0	2	0	4	0	3	2	2	5	5	2	2	3	3			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr10:102247373T>C	ENST00000370345.3	-	26	3637	c.3540A>G	c.(3538-3540)taA>taG	p.*1180*		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	0					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)		GCTGCCTGGTTTAGACCAGCA	0.537																																							0											0													33	28	30					10																	102247373		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3540A>G	10.37:g.102247373T>C			B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.*1180	ENST00000370345.3	37	c.3540	CCDS7495.1	10																																																																																			0	NULL		0.537	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	protein_coding	OTTHUMT00000051198.1	29	79	0	0.00	0	0	T	NM_015490	0	0		102247373	-1	no_errors	ENST00000370345	ensembl	human	known	74_37	silent	14	68	22.22	23.60	4	21	SNP	0.659	C	C	102247373	T	C	102247373	2	2	29	1	0	0	0	0	0	0	0	1	13999	1848	64	3		3	SEC31B	10	102247373	Silent	SNP	T	TCGA-5U-AB0D-01A-11D-A423-09	94228151	102247373	33287374	32	326											
TRIM6	117854	genome.wustl.edu	37	chr11	5624749	5624749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccagccagggaacctgcgGcctaatcggcatctggccaa	10	6	11	14	2	1	0	0	0	1	0	2	1	1	1	5	4	4	1	5	4	4	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr11:5624749G>A	ENST00000278302.5	+	2	347	c.207G>A	c.(205-207)cgG>cgA	p.R69R	TRIM6_ENST00000380107.1_Silent_p.R69R|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000515022.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.R97R|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000445329.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000380097.3_Silent_p.R97R	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	69				LR -> FG (in Ref. 6; BAB17050). {ECO:0000305}.	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)		GGAACCTGCGGCCTAATCGGC	0.552																																							0											0													82	80	81					11																	5624749		2201	4297	6498	SO:0001819	synonymous_variant	0			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.207G>A	11.37:g.5624749G>A			A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	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.R97	ENST00000278302.5	37	c.291	CCDS31390.1	11																																																																																			0	NULL		0.552	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	protein_coding	OTTHUMT00000143376.2	9	66	0	0.00	0	0	G	NM_001003818	0	0		5624749	1	no_errors	ENST00000354852	ensembl	human	known	74_37	silent	14	37	51.72	46.38	15	32	SNP	0.314	A	A	5624749	G	A	5624749	2	1	29	1	0	0	0	0	0	0	0	1	16530	1190	42	3		3	TRIM6	11	5624749	Silent	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09		5624749	129381767	33	327											
TSPAN18	90139	genome.wustl.edu	37	chr11	44931421	44931421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggctgctgcggggccGtccgtgagaacaagtgtctg	5	9	16	11	3	1	1	0	1	1	1	3	2	3	1	3	3	3	2	3	3	2	0			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr11:44931421G>A	ENST00000520358.2	+	5	644	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	TSPAN18_ENST00000340160.3_Missense_Mutation_p.V77I			Q96SJ8	TSN18_HUMAN	tetraspanin 18	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						CTGCGGGGCCGTCCGTGAGAA	0.637																																							0											0													41	45	44					11																	44931421		2203	4299	6502	SO:0001583	missense	0			AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"Tetraspanins"	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.229G>A	11.37:g.44931421G>A	ENSP00000429993:p.Val77Ile		Q6UY44|Q8NBI9	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.V77I	ENST00000520358.2	37	c.229	CCDS7910.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.609|7.609	0.674409|0.674409	0.14841|0.14841	.|.	.|.	ENSG00000157570|ENSG00000157570	ENST00000518429|ENST00000533786;ENST00000533202;ENST00000520358;ENST00000520999;ENST00000340160	.|T;T;T;T;T	.|0.79141	.|-1.24;-1.24;-1.24;-1.24;-1.24	5.41|5.41	2.13|2.13	0.27403|0.27403	.|Tetraspanin, conserved site (1);	.|0.195145	.|0.52532	.|N	.|0.000077	T|T	0.39655|0.39655	0.1086|0.1086	N|N	0.00926|0.00926	-1.1|-1.1	0.80722|0.80722	D|D	1|1	.|B;B	.|0.10296	.|0.002;0.003	.|B;B	.|0.10450	.|0.005;0.003	T|T	0.42832|0.42832	-0.9428|-0.9428	5|10	.|0.02654	.|T	.|1	.|.	5.4137|5.4137	0.16361|0.16361	0.5684:0.0:0.4316:0.0|0.5684:0.0:0.4316:0.0	.|.	.|77;77	.|Q8WUV1;Q96SJ8	.|.;TSN18_HUMAN	H|I	80|77;77;77;87;77	.|ENSP00000433592:V77I;ENSP00000434625:V77I;ENSP00000429993:V77I;ENSP00000427942:V87I;ENSP00000339820:V77I	.|ENSP00000339820:V77I	R|V	+|+	2|1	0|0	TSPAN18|TSPAN18	44887997|44887997	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.958000|0.958000	0.62258|0.62258	3.145000|3.145000	0.50623|0.50623	0.659000|0.659000	0.30945|0.30945	0.555000|0.555000	0.69702|0.69702	CGT|GTC	0	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.637	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN18	protein_coding	OTTHUMT00000376197.3	71	101	0	0.00	0	0	G	NM_130783	0	0		44931421	1	no_errors	ENST00000340160	ensembl	human	known	74_37	missense	27	41	50.91	52.81	28	47	SNP	1	A	A	44931421	G	A	44931421	3	1	29	1	0	0	0	0	1	0	0	0	16639	1145	40	1	235	1	TSPAN18	11	44931421	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	39306672	44931421	90075095	34	328											
ACP2	53	genome.wustl.edu	37	chr11	47266389	47266389	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcatggtttggggtgaggcCcagggcggcaggcgcagccc	5	6	19	11	2	0	1	0	1	0	0	0	1	0	1	2	7	2	4	2	7	0	1			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr11:47266389C>T	ENST00000256997.3	-	7	785	c.669G>A	c.(667-669)tgG>tgA	p.W223*	ACP2_ENST00000527256.1_Nonsense_Mutation_p.W191*|ACP2_ENST00000533929.1_Nonsense_Mutation_p.W195*|ACP2_ENST00000537863.1_Nonsense_Mutation_p.W36*|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000529444.1_Nonsense_Mutation_p.W160*	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	223					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GGGGTGAGGCCCAGGGCGGCA	0.652																																					Melanoma(90;262 1440 11488 44828 48531)		0											0													47	45	45					11																	47266389		2201	4298	6499	SO:0001587	stop_gained	0			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.669G>A	11.37:g.47266389C>T	ENSP00000256997:p.Trp223*		E9PCI1|Q561W5|Q9BTU7	Nonsense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.W223*	ENST00000256997.3	37	c.669	CCDS7928.1	11	.	.	.	.	.	.	.	.	.	.	c	25.6	4.651401	0.88056	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000537863;ENST00000540414;ENST00000533929;ENST00000529663	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3325	0.90274	0.0:1.0:0.0:0.0	.	.	.	.	X	223;160;191;36;213;195;190	.	ENSP00000256997:W223X	W	-	3	0	ACP2	47222965	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.828000	0.62730	2.352000	0.79861	0.306000	0.20318	TGG	0	pfam_His_Pase_superF_clade-2		0.652	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACP2	protein_coding	OTTHUMT00000392022.2	75	73	0	0.00	0	0	C	NM_001610	0	0		47266389	-1	no_errors	ENST00000256997	ensembl	human	known	74_37	nonsense	40	27	27.27	34.15	15	14	SNP	1	T	T	47266389	C	T	47266389	4	4	29	1	0	0	0	0	0	1	0	0	163	624	22	3	622	3	ACP2	11	47266389	Nonsense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	2334968	47266389	87740127	35	329											
PC	5091	genome.wustl.edu	37	chr11	66620063	66620063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagccccgggtggttccGcacagctcgagcaaagccct	8	5	12	16	3	0	0	0	0	0	0	2	1	1	0	4	2	5	5	4	2	1	1			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr11:66620063G>A	ENST00000393958.2	-	14	1765	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W	PC_ENST00000529047.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.R558W|PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.R558W	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	558					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)	GGGTGGTTCCGCACAGCTCGA	0.642																																							0											0													55	58	57					11																	66620063		2200	4295	6495	SO:0001583	missense	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1672C>T	11.37:g.66620063G>A	ENSP00000377530:p.Arg558Trp		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.R558W	ENST00000393958.2	37	c.1672	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975104	0.53720	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98313	-4.86;-4.86;-4.86	5.53	0.128	0.14733	.	0.056610	0.64402	D	0.000001	D	0.99143	0.9704	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99875	1.1102	10	0.87932	D	0	-30.5771	14.9395	0.70983	0.0:0.0:0.3858:0.6142	.	558	P11498	PYC_HUMAN	W	558	ENSP00000377527:R558W;ENSP00000377530:R558W;ENSP00000377532:R558W	ENSP00000377527:R558W	R	-	1	2	PC	66376639	0.991000	0.36638	0.952000	0.39060	0.115000	0.19883	1.552000	0.36244	-0.234000	0.09782	0.655000	0.94253	CGG	0	pirsf_Pyruv_COase,tigrfam_Pyruv_COase		0.642	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	protein_coding	OTTHUMT00000393115.1	38	147	0	0.68	0	1	G	NM_001040716	0	0		66620063	-1	no_errors	ENST00000393958	ensembl	human	known	74_37	missense	13	106	27.78	36.90	5	62	SNP	1	A	A	66620063	G	A	66620063	3	1	29	1	0	0	0	0	1	0	0	0	11497	1086	38	1	1900	1	PC	11	66620063	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	19353674	66620063	68386453	36	330											
SYTL2	54843	genome.wustl.edu	37	chr11	85418542	85418542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttcttcttgcccattttgCctttgtctggtagcaaatag	6	19	7	9	0	3	0	0	0	3	0	3	0	3	0	2	1	3	2	2	1	3	9			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr11:85418542C>T	ENST00000528231.1	-	13	2310	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D	SYTL2_ENST00000316356.4_Missense_Mutation_p.G679D|SYTL2_ENST00000359152.5_Missense_Mutation_p.G1524D|SYTL2_ENST00000524452.1_Missense_Mutation_p.G654D|SYTL2_ENST00000389960.4_Missense_Mutation_p.G654D|SYTL2_ENST00000533892.1_Missense_Mutation_p.G80D|SYTL2_ENST00000525423.1_Missense_Mutation_p.G1000D|SYTL2_ENST00000354566.3_Missense_Mutation_p.G1016D|SYTL2_ENST00000529581.1_Missense_Mutation_p.G120D|SYTL2_ENST00000525702.1_Missense_Mutation_p.G120D|SYTL2_ENST00000389958.3_Missense_Mutation_p.G109D|SYTL2_ENST00000527523.1_Missense_Mutation_p.G646D	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	678	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		GCCCATTTTGCCTTTGTCTGG	0.353																																							0											0													230	206	214					11																	85418542		2203	4299	6502	SO:0001583	missense	0			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.2033G>A	11.37:g.85418542C>T	ENSP00000431701:p.Gly678Asp		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.G1524D	ENST00000528231.1	37	c.4571	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672345	0.67928	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452;ENST00000533057;ENST00000527794;ENST00000529534	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	5.46	5.46	0.80206	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.210076	0.47455	D	0.000234	T	0.12050	0.0293	N	0.22421	0.69	0.32939	D	0.518162	P;P;P;P;P;D;P;D;B;B	0.58970	0.928;0.937;0.902;0.763;0.93;0.964;0.826;0.984;0.129;0.38	P;P;P;B;P;P;P;D;B;B	0.63488	0.563;0.731;0.716;0.408;0.66;0.885;0.598;0.915;0.098;0.205	T	0.13415	-1.0510	9	.	.	.	-12.0285	6.3168	0.21194	0.0:0.6972:0.1846:0.1182	.	646;654;678;679;496;976;1000;1016;109;80	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	D	654;1524;1016;679;120;1000;120;109;395;678;80;646;654;44;80;120	ENSP00000374610:G654D;ENSP00000352065:G1524D;ENSP00000346576:G1016D;ENSP00000318803:G679D;ENSP00000432996:G120D;ENSP00000432694:G1000D;ENSP00000435855:G120D;ENSP00000374608:G109D;ENSP00000435009:G395D;ENSP00000431701:G678D;ENSP00000432144:G80D;ENSP00000434010:G646D;ENSP00000435238:G654D;ENSP00000436164:G44D;ENSP00000437005:G80D;ENSP00000432137:G120D	.	G	-	2	0	SYTL2	85096190	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.449000	0.44935	2.569000	0.86673	0.557000	0.71058	GGC	0	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.353	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	protein_coding	OTTHUMT00000392192.1	70	210	0	0.00	0	0	C	NM_206927	0	0		85418542	-1	no_errors	ENST00000359152	ensembl	human	known	74_37	missense	79	259	36.29	36.05	45	146	SNP	1	T	T	85418542	C	T	85418542	3	4	29	1	0	0	0	0	1	0	0	0	15480	739	26	3	795	3	SYTL2	11	85418542	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	18798479	85418542	49587974	37	331											
UBR1	197131	genome.wustl.edu	37	chr15	43281144	43281144	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaataaccatttccttGatgctatttgaatatttaat	15	16	5	5	0	0	3	0	2	0	1	1	4	1	3	2	0	2	1	2	0	7	8			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr15:43281144G>T	ENST00000290650.4	-	35	3948	c.3870C>A	c.(3868-3870)atC>atA	p.I1290I	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1290					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CCATTTCCTTGATGCTATTTG	0.353																																							0											0													59	57	57					15																	43281144		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3870C>A	15.37:g.43281144G>T			O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	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.I1290	ENST00000290650.4	37	c.3870	CCDS10091.1	15																																																																																			0	NULL		0.353	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	protein_coding	OTTHUMT00000253202.1	29	237	0	0.00	0	0	G	NM_174916	0	0		43281144	-1	no_errors	ENST00000290650	ensembl	human	known	74_37	silent	79	191	18.56	22.98	18	57	SNP	0.999	T	T	43281144	G	T	43281144	2	4	29	1	0	0	0	0	0	0	0	1	16898	1280	45	5		5	UBR1	15	43281144	Silent	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09		43281144	59250248	38	332											
POLR3K	51728	genome.wustl.edu	37	chr16	97504	97504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcggctcatctgcagagcGggtctgaagctgcatgaagt	9	9	13	10	2	3	3	1	2	2	1	4	3	3	3	0	2	4	4	0	2	2	0			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr16:97504G>A	ENST00000293860.5	-	3	294	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C		NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	85					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)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TCTGCAGAGCGGGTCTGAAGC	0.512																																							0											0													94	81	85					16																	97504		2203	4300	6503	SO:0001583	missense	0			AF051316	CCDS10395.1	16p13.3	2013-01-21	2002-08-29		ENSG00000161980	ENSG00000161980		"RNA polymerase subunits"	14121	protein-coding gene	gene with protein product		606007	"polymerase (RNA) III (DNA directed) polypeptide K (12.3 kDa)"			9869639, 10079944	Standard	NM_016310		Approved	RPC11	uc002cfi.2	Q9Y2Y1	OTTHUMG00000060722	ENST00000293860.5:c.253C>T	16.37:g.97504G>A	ENSP00000293860:p.Arg85Cys		Q1W6H4|Q96S35	Missense_Mutation	SNP	pfam_Znf_TFIIS,pfam_DNA-dir_RNA_pol_M/15kDasu,smart_DNA-dir_RNA_pol_M/15kDasu,smart_Znf_TFIIS,pfscan_Znf_TFIIS	p.R85C	ENST00000293860.5	37	c.253	CCDS10395.1	16	.	.	.	.	.	.	.	.	.	.	.	19.76	3.886597	0.72410	.	.	ENSG00000161980	ENST00000293860	T	0.61158	0.13	4.59	3.63	0.41609	Zinc finger, TFIIS-type (4);	0.000000	0.85682	D	0.000000	T	0.81969	0.4935	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83306	-0.0025	10	0.87932	D	0	-37.4668	7.2098	0.25927	0.0891:0.0:0.7435:0.1674	.	85	Q9Y2Y1	RPC10_HUMAN	C	85	ENSP00000293860:R85C	ENSP00000293860:R85C	R	-	1	0	POLR3K	37504	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.588000	0.53964	1.085000	0.41206	0.449000	0.29647	CGC	0	pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS		0.512	POLR3K-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	POLR3K	protein_coding	OTTHUMT00000134192.1	36	130	0	0.00	0	0	G	NM_016310	0	0		97504	-1	no_errors	ENST00000293860	ensembl	human	known	74_37	missense	40	94	23.08	45.66	12	79	SNP	1	A	A	97504	G	A	97504	3	1	29	1	0	0	0	0	1	0	0	0	12237	1116	39	2	77	2	POLR3K	16	97504	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09		97504	90257249	39	333											
RPS2	6187	genome.wustl.edu	37	chr16	2012130	2012130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagctggagcctgagtcCgctgcacggagactctggtg	7	7	14	13	2	1	2	0	1	1	1	2	4	2	3	3	3	3	3	3	3	0	0	rs367578393		TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr16:2012130C>T	ENST00000343262.4	-	7	907	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000529806.1_3'UTR|SNORA64_ENST00000384674.1_RNA|RPS2_ENST00000526522.1_Missense_Mutation_p.R226Q|RPS2_ENST00000530225.1_3'UTR	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	284					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)|positive regulation of transferase activity (GO:0051347)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						AGCCTGAGTCCGCTGCACGGA	0.488																																							0											0								C	GLN/ARG	0,4384		0,0,2192	24	28	27		851	5.1	1	16		27	1,8575		0,1,4287	no	missense	RPS2	NM_002952.3	43	0,1,6479	TT,TC,CC		0.0117,0.0,0.0077	benign	284/294	2012130	1,12959	2192	4288	6480	SO:0001583	missense	0			AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"S ribosomal proteins"	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.851G>A	16.37:g.2012130C>T	ENSP00000341885:p.Arg284Gln		B2R5G0|D3DU82|Q3MIB1	Missense_Mutation	SNP	pfam_Ribosomal_S5_N,pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc	p.R284Q	ENST00000343262.4	37	c.851	CCDS10452.1	16	.	.	.	.	.	.	.	.	.	.	c	21.2	4.116920	0.77323	0.0	1.17E-4	ENSG00000140988	ENST00000526522;ENST00000533186;ENST00000343262	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	U	0.000000	T	0.62780	0.2456	M	0.80746	2.51	0.80722	D	1	B;B	0.33379	0.41;0.107	B;B	0.17098	0.017;0.014	T	0.67241	-0.5720	9	0.46703	T	0.11	.	17.626	0.88095	0.0:1.0:0.0:0.0	.	284;226	P15880;E9PQD7	RS2_HUMAN;.	Q	226;186;284	.	ENSP00000341885:R284Q	R	-	2	0	RPS2	1952131	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.394000	0.79862	2.397000	0.81536	0.603000	0.83216	CGG	0	NULL		0.488	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS2	protein_coding	OTTHUMT00000250613.2	120	0	0	0.00	0	0	C	NM_002952	rs367578393	C->T		2012130	-1	no_errors	ENST00000343262	ensembl	human	known	74_37	missense	129	0	20.86	0.00	34	0	SNP	1	T	T	2012130	C	T	2012130	3	4	29	1	0	0	0	0	1	0	0	0	13631	652	23	2	34	2	RPS2	16	2012130	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	1914626	2012130	88342623	40	334											
ITGAL	3683	genome.wustl.edu	37	chr16	30531237	30531237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctacctctacgtgctgagCggcatcggggggctgctgct	4	10	14	13	3	2	1	0	1	2	0	3	1	2	1	1	4	6	5	1	4	2	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr16:30531237C>A	ENST00000356798.6	+	30	3468	c.3288C>A	c.(3286-3288)agC>agA	p.S1096R	ITGAL_ENST00000358164.5_Missense_Mutation_p.S1012R|ITGAL_ENST00000433423.2_Missense_Mutation_p.S330R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1096					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)	ACGTGCTGAGCGGCATCGGGG	0.592																																					NSCLC(110;1462 1641 3311 33990 49495)		0											0													161	145	150					16																	30531237		2197	4300	6497	SO:0001583	missense	0				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.3288C>A	16.37:g.30531237C>A	ENSP00000349252:p.Ser1096Arg		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.S1096R	ENST00000356798.6	37	c.3288	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309636	0.40895	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.58210	0.35;0.35;0.35	5.35	-2.08	0.07254	.	0.000000	0.64402	D	0.000003	T	0.68128	0.2967	M	0.80847	2.515	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	0.68292	-0.5447	10	0.87932	D	0	.	11.0532	0.47903	0.0:0.3478:0.0:0.6522	.	330;1012;1096	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	R	1096;1012;330	ENSP00000349252:S1096R;ENSP00000350886:S1012R;ENSP00000409377:S330R	ENSP00000349252:S1096R	S	+	3	2	ITGAL	30438738	0.000000	0.05858	0.009000	0.14445	0.482000	0.33219	-1.177000	0.03096	-0.600000	0.05790	-0.448000	0.05591	AGC	0	NULL		0.592	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	protein_coding	OTTHUMT00000434508.2	16	55	0	0.00	0	0	C		0	0		30531237	1	no_errors	ENST00000356798	ensembl	human	known	74_37	missense	12	31	53.85	52.31	14	34	SNP	0.009	A	A	30531237	C	A	30531237	3	1	29	1	0	0	0	0	1	0	0	0	7886	767	27	5	3406	5	ITGAL	16	30531237	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	28519107	30531237	59823516	41	335											
NF1	4763	genome.wustl.edu	37	chr17	29685589	29685589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggaattgtgcagagtGtggtgtaccatgaagaatcc	11	11	12	7	0	0	3	0	1	0	2	2	4	2	4	3	2	2	2	3	2	4	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr17:29685589G>A	ENST00000358273.4	+	55	8445	c.8062G>A	c.(8062-8064)Gtg>Atg	p.V2688M	NF1_ENST00000356175.3_Missense_Mutation_p.V2667M|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.V481M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2688					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)		TGTGCAGAGTGTGGTGTACCA	0.383			"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)																													0	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)											136	120	125					17																	29685589		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8062G>A	17.37:g.29685589G>A	ENSP00000351015:p.Val2688Met		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.V2688M	ENST00000358273.4	37	c.8062	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378540	0.24944	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.41065	3.37;3.51;3.21;1.01	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	N	0.11154	0.105	0.80722	D	1	P;D;B	0.64830	0.746;0.994;0.184	P;D;B	0.78314	0.464;0.991;0.068	T	0.15780	-1.0425	10	0.02654	T	1	.	19.412	0.94677	0.0:0.0:1.0:0.0	.	481;2667;2688	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	M	2688;2667;2333;481	ENSP00000351015:V2688M;ENSP00000348498:V2667M;ENSP00000389907:V2333M;ENSP00000396481:V481M	ENSP00000348498:V2667M	V	+	1	0	NF1	26709715	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.292000	0.96076	2.834000	0.97654	0.650000	0.86243	GTG	0	NULL		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	46	242	0	0.00	0	0	G	NM_000267	0	0		29685589	1	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	41	222	56.84	59.12	54	321	SNP	1	A	A	29685589	G	A	29685589	3	1	29	1	0	0	0	0	1	0	0	0	10356	1377	48	3	8341	3	NF1	17	29685589	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09		29685589	51509621	42	336											
ACCN1	40	genome.wustl.edu	37	chr17	31618944	31618944	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcccgtgcagtttagCgcggctcagcgatggccgcc	5	6	14	16	6	1	0	1	0	0	0	1	1	1	0	4	2	4	4	4	2	1	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr17:31618944C>T	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Missense_Mutation_p.A64T	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						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)	TGCAGTTTAGCGCGGCTCAGC	0.766																																							0											0													9	11	10					17																	31618944		2134	4176	6310	SO:0001627	intron_variant	0			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.556-179859G>A	17.37:g.31618944C>T			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.A64T	ENST00000359872.6	37	c.190	CCDS42296.1	17	.	.	.	.	.	.	.	.	.	.	C	6.551	0.469862	0.12461	.	.	ENSG00000108684	ENST00000225823	T	0.57595	0.39	4.26	3.27	0.37495	.	0.564167	0.16818	N	0.198280	T	0.14013	0.0339	N	0.00317	-1.655	0.80722	D	1	B	0.15719	0.014	B	0.16722	0.016	T	0.25606	-1.0127	10	0.02654	T	1	-0.483	6.1737	0.20431	0.0:0.757:0.0:0.243	.	64	E9PBX2	.	T	64	ENSP00000225823:A64T	ENSP00000225823:A64T	A	-	1	0	ACCN1	28643057	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.032000	0.30178	0.725000	0.32318	0.306000	0.20318	GCT	0	pfam_Na+channel_ASC		0.766	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	protein_coding	OTTHUMT00000447552.1	50	14	0	0.00	0	0	C	NM_183377, NM_001094	0	0		31618944	-1	no_errors	ENST00000225823	ensembl	human	known	74_37	missense	37	6	30.91	25.00	17	2	SNP	1	T	T	31618944	C	T	31618944	1	4	29	0	1	0	0	0	0	0	0	0	128	768	27	1		1	ACCN1	17	31618944	Intron	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	1933355	31618944	49576266	43	337											
FZD2	2535	genome.wustl.edu	37	chr17	42636535	42636535	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagcactgggagcgctcGtgggtgagccagcactgcaa	8	5	16	12	4	0	1	0	1	0	0	1	3	0	2	1	2	5	4	1	2	1	0			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr17:42636535G>A	ENST00000315323.3	+	1	1611	c.1479G>A	c.(1477-1479)tcG>tcA	p.S493S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	493					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)		GGGAGCGCTCGTGGGTGAGCC	0.627																																							0											0													45	40	42					17																	42636535		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1479G>A	17.37:g.42636535G>A			Q0VG82	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S493	ENST00000315323.3	37	c.1479	CCDS11484.1	17																																																																																			0	pfam_Frizzled,pfscan_GPCR_2-like		0.627	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	protein_coding	OTTHUMT00000457806.1	28	25	0	0.00	0	0	G	NM_001466	0	0		42636535	1	no_errors	ENST00000315323	ensembl	human	known	74_37	silent	17	12	29.17	14.29	7	2	SNP	0.922	A	A	42636535	G	A	42636535	2	1	29	1	0	0	0	0	0	0	0	1	6130	1132	40	1		1	FZD2	17	42636535	Silent	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	11017591	42636535	38558675	44	338											
KIAA0195	9772	genome.wustl.edu	37	chr17	73485730	73485730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcctggcagtacacccTcctccagctccaggcaagga	9	7	8	17	0	0	0	0	0	0	0	4	1	4	1	5	3	2	4	5	3	2	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr17:73485730T>C	ENST00000314256.7	+	9	1335	c.941T>C	c.(940-942)cTc>cCc	p.L314P	KIAA0195_ENST00000375248.5_Missense_Mutation_p.L324P|KIAA0195_ENST00000583795.1_Intron|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	314						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)			CAGTACACCCTCCTCCAGCTC	0.627																																							0											0													93	65	74					17																	73485730		2203	4300	6503	SO:0001583	missense	0				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.941T>C	17.37:g.73485730T>C	ENSP00000313885:p.Leu314Pro		O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.L314P	ENST00000314256.7	37	c.941	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	T	18.44	3.623915	0.66901	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.54279	0.58;0.58	5.11	5.11	0.69529	.	0.065539	0.64402	D	0.000018	T	0.62901	0.2466	L	0.52573	1.65	0.80722	D	1	D;D	0.60575	0.988;0.97	P;P	0.58331	0.837;0.754	T	0.64905	-0.6297	10	0.52906	T	0.07	-23.8555	15.1995	0.73122	0.0:0.0:0.0:1.0	.	324;314	C9JL75;Q12767	.;K0195_HUMAN	P	314;324	ENSP00000313885:L314P;ENSP00000364397:L324P	ENSP00000313885:L314P	L	+	2	0	KIAA0195	70997325	1.000000	0.71417	0.886000	0.34754	0.659000	0.38960	6.099000	0.71466	2.049000	0.60858	0.260000	0.18958	CTC	0	NULL		0.627	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	protein_coding	OTTHUMT00000447303.1	43	121	0	0.00	0	0	T	NM_014738	0	0		73485730	1	no_errors	ENST00000314256	ensembl	human	known	74_37	missense	30	56	23.08	37.78	9	34	SNP	0.811	C	C	73485730	T	C	73485730	3	2	29	1	0	0	0	0	1	0	0	0	8160	1551	54	4	971	4	KIAA0195	17	73485730	Missense_Mutation	SNP	T	TCGA-5U-AB0D-01A-11D-A423-09	30849195	73485730	7709480	45	339											
UTS2R	2837	genome.wustl.edu	37	chr17	80332689	80332689	+	Frame_Shift_Del	DEL	G	G	-																															gacaccgtgcagcgccccaaGggctaccgcaagctgctggc																										TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr17:80332689delG	ENST00000313135.2	+	1	537	c.489delG	c.(487-489)aagfs	p.K163fs		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	163					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|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 growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			AGCGCCCCAAGGGCTACCGCA	0.692																																							0											0													9	9	9					17																	80332689		2179	4256	6435	SO:0001589	frameshift_variant	0			AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"G protein-coupled receptor 14"	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.489delG	17.37:g.80332689delG	ENSP00000323516:p.Lys163fs		B2RMV8	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Urot_II_rcpt,prints_GPCR_Rhodpsn	p.G164fs	ENST00000313135.2	37	c.489	CCDS11810.1	17																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Urot_II_rcpt		0.692	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2R	protein_coding	OTTHUMT00000443506.1	9	15	0	0.00	0	0	G	NM_018949	0	0		80332689	1	no_errors	ENST00000313135	ensembl	human	known	74_37	frame_shift_del	4	8	33.33	0.00	2	0	DEL	1	0	-	80332689	G	-	80332689	7	5	29	1	0	1	0	1	0	0	0	0	17103	991	35	0	491	0	UTS2R	17	80332689	Frame_Shift_Del	DEL	G	TCGA-5U-AB0D-01A-11D-A423-09	6846959	80332689	862521	46	340											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14791487	14791487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataccttaagtggaaaattaGaaggtaagaaccatttttta	17	13	7	4	0	0	2	0	0	0	2	0	3	0	3	2	2	2	1	2	2	9	7			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr18:14791487G>A	ENST00000358984.4	+	16	2002	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E608K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	608										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGGAAAATTAGAAGGTAAGAA	0.323																																							0											0													57	45	49					18																	14791487		692	1582	2274	SO:0001583	missense	0			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.1822G>A	18.37:g.14791487G>A	ENSP00000351875:p.Glu608Lys		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.E608K	ENST00000358984.4	37	c.1822	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	13.60	2.285579	0.40394	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.09630	2.96;2.96	0.749	0.749	0.18381	.	.	.	.	.	T	0.18173	0.0436	L	0.52126	1.63	0.19300	N	0.999977	D	0.60575	0.988	P	0.62885	0.908	T	0.16305	-1.0407	9	0.30078	T	0.28	.	4.8317	0.13443	0.0:0.0:1.0:0.0	.	608	F8WAG3	.	K	608	ENSP00000351875:E608K;ENSP00000399031:E608K	ENSP00000351875:E608K	E	+	1	0	ANKRD30B	14781487	1.000000	0.71417	0.425000	0.26659	0.115000	0.19883	1.786000	0.38694	0.683000	0.31428	0.289000	0.19496	GAA	0	NULL		0.323	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	protein_coding	OTTHUMT00000443557.1	40	105	0	0.94	0	1	G	NM_001145029	0	0		14791487	1	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	60	96	42.31	45.20	44	80	SNP	0.558	A	A	14791487	G	A	14791487	3	1	29	1	0	0	0	0	1	0	0	0	659	943	33	3	1884	3	ANKRD30B	18	14791487	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09		14791487	63285761	47	341											
KIAA1328	57536	genome.wustl.edu	37	chr18	34647336	34647336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggtggtggggcactgcaaCccattgaaactttgaaaaag	13	9	12	7	0	0	2	0	2	0	0	0	2	0	2	1	4	3	2	1	4	4	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr18:34647336C>A	ENST00000280020.5	+	7	1082	c.1060C>A	c.(1060-1062)Ccc>Acc	p.P354T	KIAA1328_ENST00000586501.1_Missense_Mutation_p.P70T|KIAA1328_ENST00000435985.2_Missense_Mutation_p.P70T|KIAA1328_ENST00000543923.1_Missense_Mutation_p.P246T|KIAA1328_ENST00000586135.1_Missense_Mutation_p.P70T|KIAA1328_ENST00000591619.1_Missense_Mutation_p.P350T	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	354										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGCACTGCAACCCATTGAAAC	0.448																																							0											0													65	62	63					18																	34647336		1984	4182	6166	SO:0001583	missense	0			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1060C>A	18.37:g.34647336C>A	ENSP00000280020:p.Pro354Thr		Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	NULL	p.P354T	ENST00000280020.5	37	c.1060	CCDS45855.1	18	.	.	.	.	.	.	.	.	.	.	C	8.590	0.884258	0.17467	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055;ENST00000435985	T;T;T	0.50548	0.74;0.74;0.74	6.03	0.848	0.18966	.	0.603595	0.16687	N	0.203712	T	0.41858	0.1177	L	0.57536	1.79	0.09310	N	1	B;B;P;B	0.45531	0.176;0.328;0.86;0.176	B;B;P;B	0.47075	0.054;0.104;0.536;0.067	T	0.24440	-1.0160	10	0.31617	T	0.26	.	1.8471	0.03161	0.2147:0.4407:0.1048:0.2399	.	70;354;70;354	Q86T90-4;A8K8C3;Q86T90-3;Q86T90	.;.;.;K1328_HUMAN	T	246;354;354;70	ENSP00000441359:P246T;ENSP00000280020:P354T;ENSP00000390515:P70T	ENSP00000280020:P354T	P	+	1	0	KIAA1328	32901334	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.275000	0.18698	-0.132000	0.11557	0.655000	0.94253	CCC	0	NULL		0.448	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1328	protein_coding	OTTHUMT00000440455.1	36	150	0	0.66	0	1	C	NM_020776	0	0		34647336	1	no_errors	ENST00000280020	ensembl	human	known	74_37	missense	32	123	15.79	29.71	6	52	SNP	0	A	A	34647336	C	A	34647336	3	1	29	1	0	0	0	0	1	0	0	0	8225	507	18	5	1086	5	KIAA1328	18	34647336	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	19855849	34647336	43429912	48	342											
FBXO15	201456	genome.wustl.edu	37	chr18	71740898	71740898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcgatctcaggcacaccGgggaactgaaacaccaaaag	15	3	11	12	2	1	1	1	1	1	0	2	3	1	2	2	4	2	1	2	4	4	0			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr18:71740898G>A	ENST00000419743.2	-	10	1410	c.1331C>T	c.(1330-1332)cCg>cTg	p.P444L	FBXO15_ENST00000269500.5_Missense_Mutation_p.P368L|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	444						SCF ubiquitin ligase complex (GO:0019005)		p.P368L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CAGGCACACCGGGGAACTGAA	0.478																																							0											1	Substitution - Missense(1)	large_intestine(1)											183	172	175					18																	71740898		2203	4300	6503	SO:0001583	missense	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1331C>T	18.37:g.71740898G>A	ENSP00000393154:p.Pro444Leu		B3KST3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.P444L	ENST00000419743.2	37	c.1331	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	g	24.2	4.509540	0.85282	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.42131	0.98;0.98	5.9	5.9	0.94986	.	0.049509	0.85682	D	0.000000	T	0.64338	0.2589	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.58172	0.834;0.834	T	0.66909	-0.5804	10	0.87932	D	0	-11.1147	20.2814	0.98513	0.0:0.0:1.0:0.0	.	444;368	B3KST3;Q8NCQ5	.;FBX15_HUMAN	L	368;444	ENSP00000269500:P368L;ENSP00000393154:P444L	ENSP00000269500:P368L	P	-	2	0	FBXO15	69891878	1.000000	0.71417	0.958000	0.39756	0.650000	0.38633	7.058000	0.76676	2.809000	0.96659	0.651000	0.88453	CCG	0	NULL		0.478	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	protein_coding	OTTHUMT00000444223.1	33	177	0	0.00	0	0	G	NM_152676	0	0		71740898	-1	no_errors	ENST00000419743	ensembl	human	known	74_37	missense	27	149	30.77	24.62	12	49	SNP	0.996	A	A	71740898	G	A	71740898	3	1	29	1	0	0	0	0	1	0	0	0	5728	1116	39	2	205	2	FBXO15	18	71740898	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	37093562	71740898	6336350	49	343											
ZNF208	7757	genome.wustl.edu	37	chr19	22154452	22154452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattaccttatgtttagtAaggattgagaacgtactaaa	15	14	8	4	1	0	2	0	2	0	1	0	4	0	3	1	1	3	3	1	1	9	8			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr19:22154452A>G	ENST00000397126.4	-	4	3532	c.3384T>C	c.(3382-3384)ctT>ctC	p.L1128L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1128					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.L1000L(2)|p.L1128L(1)		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)				TATGTTTAGTAAGGATTGAGA	0.373																																							0											3	Substitution - coding silent(3)	lung(3)											57	61	60					19																	22154452		2123	4245	6368	SO:0001819	synonymous_variant	0			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.3384T>C	19.37:g.22154452A>G				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.L1128	ENST00000397126.4	37	c.3384	CCDS54240.1	19																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	protein_coding	OTTHUMT00000464302.1	21	2	0	0.00	0	0	A	NM_007153	0	0		22154452	-1	no_errors	ENST00000397126	ensembl	human	novel	74_37	silent	35	2	7.89	0.00	3	0	SNP	0	G	G	22154452	A	G	22154452	2	3	29	1	0	0	0	0	0	0	0	1	17763	349	13	3		3	ZNF208	19	22154452	Silent	SNP	A	TCGA-5U-AB0D-01A-11D-A423-09		22154452	36974531	50	344											
ZNF208	7757	genome.wustl.edu	37	chr19	22156863	22156863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtgtaataagggttgagaCcttactgaaggctttgccac	11	12	11	7	0	0	2	0	2	0	1	0	3	0	2	2	2	2	3	2	2	4	5	rs202200782		TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr19:22156863C>A	ENST00000397126.4	-	4	1121	c.973G>T	c.(973-975)Gtc>Ttc	p.V325F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	325					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.V325F(1)		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)				AGGGTTGAGACCTTACTGAAG	0.403																																							0											1	Substitution - Missense(1)	NS(1)											66	68	67					19																	22156863		1946	3920	5866	SO:0001583	missense	0			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.973G>T	19.37:g.22156863C>A	ENSP00000380315:p.Val325Phe			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.V325F	ENST00000397126.4	37	c.973	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.286883	0.01387	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.38560	1.13	2.93	-5.86	0.02304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10428	-1.0630	8	0.39692	T	0.17	.	0.9385	0.01350	0.2555:0.1041:0.2969:0.3435	.	325	O43345	ZN208_HUMAN	F	325	ENSP00000380315:V325F	ENSP00000380315:V325F	V	-	1	0	ZNF208	21948703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.688000	0.00392	-2.968000	0.00287	-2.283000	0.00269	GTC	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	protein_coding	OTTHUMT00000464302.1	22	22	0	0.00	0	0	C	NM_007153	rs202200782	C->A		22156863	-1	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	22	5	31.25	0.00	10	0	SNP	0	A	A	22156863	C	A	22156863	3	1	29	1	0	0	0	0	1	0	0	0	17763	507	18	5	2873	5	ZNF208	19	22156863	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	2411	22156863	36972120	51	345											
B3GNT8	593	genome.wustl.edu	37	chr19	41931576	41931576	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaccagcagcaggttgcGgaaagcacagtggtccgcag	10	5	14	12	3	0	0	0	0	0	0	1	1	1	1	3	3	5	6	3	3	2	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr19:41931576G>A	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Missense_Mutation_p.R370C|B3GNT8_ENST00000601379.1_5'Flank|CTC-435M10.6_ENST00000598887.1_RNA	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						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						AGCAGGTTGCGGAAAGCACAG	0.657																																							0											0													36	39	38					19																	41931576		2203	4300	6503	SO:0001628	intergenic_variant	0			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		19.37:g.41931576G>A			B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.R370C	ENST00000269980.2	37	c.1108	CCDS12581.1	19	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268943	0.23221	.	.	ENSG00000177191	ENST00000321702	T	0.38560	1.13	3.81	2.75	0.32379	.	0.403761	0.23250	N	0.050257	T	0.50820	0.1638	M	0.82323	2.585	0.09310	N	0.999998	D	0.61697	0.99	P	0.47744	0.556	T	0.51284	-0.8725	10	0.87932	D	0	.	10.5206	0.44916	0.0:0.0:0.6523:0.3477	.	370	Q7Z7M8	B3GN8_HUMAN	C	370	ENSP00000312700:R370C	ENSP00000312700:R370C	R	-	1	0	B3GNT8	46623416	0.985000	0.35326	0.004000	0.12327	0.223000	0.24884	3.706000	0.54830	0.935000	0.37341	0.655000	0.94253	CGC	0	NULL		0.657	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT8	protein_coding	OTTHUMT00000398313.3	61	54	0	0.00	0	0	G	NM_000709	0	0		41931576	-1	no_errors	ENST00000321702	ensembl	human	known	74_37	missense	23	45	8	29.69	2	19	SNP	0.011	A	A	41931576	G	A	41931576	1	1	29	0	1	0	0	0	0	0	0	0	1263	1116	39	2		2	B3GNT8	19	41931576	IGR	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	19774713	41931576	17197407	52	346											
PLA2G4C	8605	genome.wustl.edu	37	chr19	48593629	48593629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaatactcaccaaaaatgTattccctaatgacttcagtg	15	11	4	11	0	2	1	2	1	0	0	3	1	3	1	3	0	1	1	3	0	6	5			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr19:48593629T>C	ENST00000599921.1	-	8	1112	c.755A>G	c.(754-756)tAc>tGc	p.Y252C	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.Y252C|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.Y252C|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.Y262C			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	252	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ACCAAAAATGTATTCCCTAAT	0.398																																							0											0													153	144	147					19																	48593629		2203	4300	6503	SO:0001583	missense	0			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.755A>G	19.37:g.48593629T>C	ENSP00000469473:p.Tyr252Cys		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	p.Y262C	ENST00000599921.1	37	c.785	CCDS12710.1	19	.	.	.	.	.	.	.	.	.	.	T	2.300	-0.360386	0.05103	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04454	3.62;3.62	2.51	-5.01	0.02991	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	2.309290	0.02486	N	0.089026	T	0.04634	0.0126	L	0.40543	1.245	0.09310	N	1	B;B	0.18013	0.025;0.01	B;B	0.13407	0.009;0.003	T	0.33954	-0.9848	10	0.39692	T	0.17	-0.5531	4.318	0.11002	0.6257:0.1334:0.0:0.2409	.	262;252	B4DI40;Q9UP65	.;PA24C_HUMAN	C	252	ENSP00000346228:Y252C;ENSP00000400036:Y252C	ENSP00000346228:Y252C	Y	-	2	0	PLA2G4C	53285441	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.055000	0.03493	-1.912000	0.01081	0.164000	0.16699	TAC	0	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.398	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4C	protein_coding	OTTHUMT00000465551.1	83	221	0	0.00	0	0	T		0	0		48593629	-1	no_errors	ENST00000599111	ensembl	human	known	74_37	missense	107	170	21.32	20.93	29	45	SNP	0	C	C	48593629	T	C	48593629	3	2	29	1	0	0	0	0	1	0	0	0	12003	1638	57	3	914	3	PLA2G4C	19	48593629	Missense_Mutation	SNP	T	TCGA-5U-AB0D-01A-11D-A423-09	6662053	48593629	10535354	53	347											
KCNA7	3743	genome.wustl.edu	37	chr19	49573389	49573389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagctcaggtacctccccGtccaccagccccccattggc	6	7	9	19	1	1	0	1	0	0	0	3	0	3	0	8	3	3	3	8	3	2	3	rs145070146		TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr19:49573389G>A	ENST00000221444.1	-	2	1657	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	434					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)	GTACCTCCCCGTCCACCAGCC	0.622																																					Colon(74;686 1235 3793 23366 48562)		0											0								G		0,4406		0,0,2203	75	71	72		1302	-0.8	0	19	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KCNA7	NM_031886.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		434/457	49573389	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1302C>T	19.37:g.49573389G>A			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.D434	ENST00000221444.1	37	c.1302	CCDS12755.1	19																																																																																			0	NULL		0.622	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA7	protein_coding	OTTHUMT00000466263.1	74	214	0	0.00	0	0	G	NM_031886	rs145070146	G->A		49573389	-1	no_errors	ENST00000221444	ensembl	human	known	74_37	silent	43	109	18.87	20.29	10	28	SNP	0.041	A	A	49573389	G	A	49573389	2	1	29	1	0	0	0	0	0	0	0	1	8008	1136	40	1		1	KCNA7	19	49573389	Silent	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	979760	49573389	9555594	54	348											
ZNF432	9668	genome.wustl.edu	37	chr19	52537807	52537807	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcctttcccacattcattGcatatatatggtttctctcc	9	16	4	12	0	2	0	1	0	1	0	5	0	4	0	3	1	2	2	3	1	4	7			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr19:52537807G>A	ENST00000594154.1	-	5	1337	c.1125C>T	c.(1123-1125)tgC>tgT	p.C375C	ZNF432_ENST00000221315.5_Silent_p.C375C			O94892	ZN432_HUMAN	zinc finger protein 432	375					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACATTCATTGCATATATATG	0.413																																							0											0													118	115	116					19																	52537807		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1125C>T	19.37:g.52537807G>A				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.C375	ENST00000594154.1	37	c.1125	CCDS12848.1	19																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	protein_coding	OTTHUMT00000462410.1	47	136	0	0.00	0	0	G	NM_014650	0	0		52537807	-1	no_errors	ENST00000221315	ensembl	human	known	74_37	silent	32	89	49.21	50.28	31	90	SNP	0.798	A	A	52537807	G	A	52537807	2	1	29	1	0	0	0	0	0	0	0	1	17903	1311	46	3		3	ZNF432	19	52537807	Silent	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	2964418	52537807	6591176	55	349											
CDC25B	994	genome.wustl.edu	37	chr20	3783595	3783595	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagacggaaagcaccaagaCctcaagtacatctcaccaga	16	5	8	12	1	2	3	2	0	1	3	3	4	2	4	3	1	2	3	3	1	5	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr20:3783595C>T	ENST00000245960.5	+	12	1930	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	CDC25B_ENST00000439880.2_Silent_p.D397D|CDC25B_ENST00000379598.5_Silent_p.D320D|CDC25B_ENST00000340833.4_Silent_p.D370D|CDC25B_ENST00000344256.6_Silent_p.D347D|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	411					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						AGCACCAAGACCTCAAGTACA	0.507																																							0											0													149	105	120					20																	3783595		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1233C>T	20.37:g.3783595C>T			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.D411	ENST00000245960.5	37	c.1233	CCDS13067.1	20																																																																																			0	superfamily_Rhodanese-like_dom,prints_MPI_Phosphatase		0.507	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	protein_coding	OTTHUMT00000077779.2	41	252	0	0.00	0	0	C	NM_021874	0	0		3783595	1	no_errors	ENST00000245960	ensembl	human	known	74_37	silent	58	261	28.4	33.42	23	131	SNP	1	T	T	3783595	C	T	3783595	2	4	29	1	0	0	0	0	0	0	0	1	3063	506	18	3		3	CDC25B	20	3783595	Silent	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09		3783595	59241925	56	350											
WNT7B	7477	genome.wustl.edu	37	chr22	46318762	46318762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgaagacctcggtgcGctcgctgcaggtgttgcact	6	9	15	11	3	0	2	0	1	0	1	2	2	0	2	1	3	3	6	1	3	1	1	rs567863801		TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chr22:46318762G>A	ENST00000339464.4	-	4	1398	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	WNT7B_ENST00000410089.1_Missense_Mutation_p.R326C|WNT7B_ENST00000409496.3_Missense_Mutation_p.R346C	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	342					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)		ACCTCGGTGCGCTCGCTGCAG	0.632													G|||	1	0.000199681	0	0	5008	,	,		13724	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0													81	65	70					22																	46318762		2203	4300	6503	SO:0001583	missense	0			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.1024C>T	22.37:g.46318762G>A	ENSP00000341032:p.Arg342Cys		B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.R342C	ENST00000339464.4	37	c.1024	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308202	0.60305	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496	T;T;T	0.77098	-1.07;-1.07;-1.07	4.36	1.96	0.26148	.	0.000000	0.85682	U	0.000000	D	0.87354	0.6156	M	0.90082	3.085	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.65987	0.94;0.94	D	0.88063	0.2795	10	0.48119	T	0.1	.	11.2686	0.49124	0.0:0.0:0.6123:0.3877	.	346;342	A8K0G1;P56706	.;WNT7B_HUMAN	C	342;326;346	ENSP00000341032:R342C;ENSP00000386781:R326C;ENSP00000386546:R346C	ENSP00000341032:R342C	R	-	1	0	WNT7B	44697426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.628000	0.54259	1.974000	0.57490	0.655000	0.94253	CGC	0	pfam_Wnt,smart_Wnt		0.632	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	protein_coding	OTTHUMT00000336418.1	45	29	0	0.00	0	0	G	NM_058238	rs567863801	G->A		46318762	-1	no_errors	ENST00000339464	ensembl	human	known	74_37	missense	43	10	8.33	0.00	4	0	SNP	1	A	A	46318762	G	A	46318762	3	1	29	1	0	0	0	0	1	0	0	0	17392	1087	38	1	29	1	WNT7B	22	46318762	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09		46318762	4985804	57	351											
FAM47A	158724	genome.wustl.edu	37	chrX	34149546	34149546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggttcgtcagttgtcttctCccggccctcacaaggagccc	5	10	11	15	2	4	0	2	0	2	0	6	1	4	1	3	3	1	2	3	3	1	3			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chrX:34149546C>T	ENST00000346193.3	-	1	901	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	284										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						GTTGTCTTCTCCCGGCCCTCA	0.577																																							0											0													25	27	26					X																	34149546		2202	4299	6501	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.850G>A	X.37:g.34149546C>T	ENSP00000345029:p.Glu284Lys		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.E284K	ENST00000346193.3	37	c.850	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	c	1.292	-0.607365	0.03717	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	0.13	0.13	0.14746	.	.	.	.	.	T	0.17577	0.0422	L	0.38175	1.15	0.09310	N	1	P	0.37398	0.593	P	0.45577	0.486	T	0.25606	-1.0127	8	0.08179	T	0.78	.	.	.	.	.	284	Q5JRC9	FA47A_HUMAN	K	284	ENSP00000345029:E284K	ENSP00000345029:E284K	E	-	1	0	FAM47A	34059467	0.073000	0.21202	0.206000	0.23566	0.208000	0.24298	-0.129000	0.10515	0.171000	0.19730	0.173000	0.16961	GAG	0	NULL		0.577	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	protein_coding	OTTHUMT00000056205.1	125	107	0	0.00	0	0	C	NM_203408	0	0		34149546	-1	no_errors	ENST00000346193	ensembl	human	known	74_37	missense	182	218	15.67	19.85	34	54	SNP	0.061	T	T	34149546	C	T	34149546	3	4	29	1	0	0	0	0	1	0	0	0	5569	864	30	3	1529	3	FAM47A	23	34149546	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09		34149546	121121014	58	352											
ALAS2	212	genome.wustl.edu	37	chrX	55042031	55042031	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagttccagagatgatgTcaatcttatgcataattcca	14	12	7	8	0	2	3	1	1	1	2	4	4	4	3	2	0	1	2	2	0	4	4			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chrX:55042031T>A	ENST00000330807.5	-	8	1285	c.1148A>T	c.(1147-1149)gAc>gTc	p.D383V	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Missense_Mutation_p.D346V|ALAS2_ENST00000396198.3_Missense_Mutation_p.D370V	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	383					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)	AGAGATGATGTCAATCTTATG	0.507																																							0											0													104	93	97					X																	55042031		2203	4300	6503	SO:0001583	missense	0				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.1148A>T	X.37:g.55042031T>A	ENSP00000332369:p.Asp383Val		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.D383V	ENST00000330807.5	37	c.1148	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243401	0.79912	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.96334	-3.98;-3.98;-3.98	5.75	5.75	0.90469	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);	0.084941	0.85682	D	0.000000	D	0.98406	0.9470	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.998	D	0.99490	1.0950	10	0.87932	D	0	-17.8901	14.1477	0.65360	0.0:0.0:0.0:1.0	.	346;370;383	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	V	383;370;346	ENSP00000332369:D383V;ENSP00000379501:D370V;ENSP00000337131:D346V	ENSP00000332369:D383V	D	-	2	0	ALAS2	55058756	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.054000	0.61138	0.481000	0.45027	GAC	0	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth		0.507	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	protein_coding	OTTHUMT00000056843.3	46	211	0	0.00	0	0	T	NM_000032	0	0		55042031	-1	no_errors	ENST00000330807	ensembl	human	known	74_37	missense	58	275	15.94	16.67	11	55	SNP	1	A	A	55042031	T	A	55042031	3	1	29	1	0	0	0	0	1	0	0	0	485	1667	58	5	631	5	ALAS2	23	55042031	Missense_Mutation	SNP	T	TCGA-5U-AB0D-01A-11D-A423-09	20892485	55042031	100228529	59	353											
OGT	8473	genome.wustl.edu	37	chrX	70787885	70787885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcatcccagctcacttGcttaggttgtcttgagctta	7	14	9	11	0	2	1	1	1	1	0	3	1	3	1	1	1	5	6	1	1	2	5			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chrX:70787885G>A	ENST00000373719.3	+	21	3102	c.2885G>A	c.(2884-2886)tGc>tAc	p.C962Y	OGT_ENST00000373701.3_Missense_Mutation_p.C952Y	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	962					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)					CAGCTCACTTGCTTAGGTTGT	0.393																																							0											0													195	162	174					X																	70787885		2203	4300	6503	SO:0001583	missense	0			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.2885G>A	X.37:g.70787885G>A	ENSP00000362824:p.Cys962Tyr		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.C962Y	ENST00000373719.3	37	c.2885	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037003	0.75617	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.71222	-0.55;-0.55	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	N	0.25647	0.755	0.80722	D	1	D;D;P	0.61697	0.979;0.99;0.945	D;P;P	0.63877	0.919;0.907;0.9	T	0.78924	-0.2012	10	0.72032	D	0.01	-2.7914	17.3502	0.87321	0.0:0.0:1.0:0.0	.	836;952;962	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	Y	962;952	ENSP00000362824:C962Y;ENSP00000362805:C952Y	ENSP00000362805:C952Y	C	+	2	0	OGT	70704610	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.639000	0.83342	2.279000	0.76181	0.544000	0.68410	TGC	0	NULL		0.393	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	protein_coding	OTTHUMT00000081829.3	84	199	0	0.00	0	0	G	NM_003605, NM_181672	0	0		70787885	1	no_errors	ENST00000373719	ensembl	human	known	74_37	missense	167	291	16.5	12.57	33	42	SNP	1	A	A	70787885	G	A	70787885	3	1	29	1	0	0	0	0	1	0	0	0	10847	1319	46	3	2967	3	OGT	23	70787885	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	15745854	70787885	84482675	60	354											
HTATSF1	27336	genome.wustl.edu	37	chrX	135593719	135593719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccgaatttgaagatgaCggctctgaaaaagtgttaga	15	10	10	6	2	1	5	0	3	1	2	2	6	2	5	1	1	1	2	1	1	6	2			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chrX:135593719C>A	ENST00000218364.4	+	9	1989	c.1815C>A	c.(1813-1815)gaC>gaA	p.D605E	HTATSF1_ENST00000535601.1_Missense_Mutation_p.D605E	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	605	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				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)					TTGAAGATGACGGCTCTGAAA	0.378																																							0											0													65	70	68					X																	135593719		2201	4295	6496	SO:0001583	missense	0			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.1815C>A	X.37:g.135593719C>A	ENSP00000218364:p.Asp605Glu		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D605E	ENST00000218364.4	37	c.1815	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	C	5.036	0.192320	0.09599	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04049	3.72;3.72	4.46	-3.78	0.04333	.	0.626483	0.17768	N	0.162691	T	0.01523	0.0049	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.41770	-0.9490	10	0.18276	T	0.48	-4.1809	3.8682	0.09025	0.1334:0.6167:0.116:0.134	.	605	O43719	HTSF1_HUMAN	E	605	ENSP00000442699:D605E;ENSP00000218364:D605E	ENSP00000218364:D605E	D	+	3	2	HTATSF1	135421385	0.000000	0.05858	0.030000	0.17652	0.819000	0.46315	-0.834000	0.04391	-1.013000	0.03383	-0.529000	0.04317	GAC	0	NULL		0.378	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	protein_coding	OTTHUMT00000058497.1	87	210	0	0.00	0	0	C	NM_014500	0	0		135593719	1	no_errors	ENST00000218364	ensembl	human	known	74_37	missense	143	315	15.88	15.69	27	59	SNP	0.184	A	A	135593719	C	A	135593719	3	1	29	1	0	0	0	0	1	0	0	0	7433	535	19	5	1849	5	HTATSF1	23	135593719	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	64805834	135593719	19676841	61	355											
MECP2	4204	genome.wustl.edu	37	chrX	153297697	153297697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcccagcagagcggccaGatttcctttgcttaagcttc	8	12	8	13	1	0	2	0	0	0	2	3	2	2	2	3	1	4	3	3	1	1	5			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chrX:153297697G>A	ENST00000303391.6	-	3	587	c.338C>T	c.(337-339)tCt>tTt	p.S113F	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000407218.1_Missense_Mutation_p.S113F|MECP2_ENST00000453960.2_Missense_Mutation_p.S125F	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	113	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|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)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCGGCCAGATTTCCTTTG	0.547																																							0											0													85	78	80					X																	153297697		2203	4300	6503	SO:0001583	missense	0			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.338C>T	X.37:g.153297697G>A	ENSP00000301948:p.Ser113Phe		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.S113F	ENST00000303391.6	37	c.338	CCDS14741.1	X	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824008	0.90873	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964;ENST00000407218	D;D;D	0.99532	-6.1;-6.1;-6.1	5.93	5.93	0.95920	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	M	0.64170	1.965	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.85130	0.995;0.997	D	0.98813	1.0744	10	0.87932	D	0	-13.2912	17.9775	0.89131	0.0:0.0:1.0:0.0	.	125;113	P51608-2;P51608	.;MECP2_HUMAN	F	113;113;125;113;113	ENSP00000301948:S113F;ENSP00000395535:S125F;ENSP00000384865:S113F	ENSP00000301948:S113F	S	-	2	0	MECP2	152950891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.298000	0.96132	2.521000	0.84997	0.529000	0.55759	TCT	0	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd		0.547	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	protein_coding	OTTHUMT00000061144.1	57	227	0	0.00	0	0	G	NM_004992	0	0		153297697	-1	no_errors	ENST00000303391	ensembl	human	known	74_37	missense	24	162	56.36	46.91	31	144	SNP	1	A	A	153297697	G	A	153297697	3	1	29	1	0	0	0	0	1	0	0	0	9423	942	33	3	1130	3	MECP2	23	153297697	Missense_Mutation	SNP	G	TCGA-5U-AB0D-01A-11D-A423-09	17703978	153297697	1972863	62	356											
VBP1	7411	genome.wustl.edu	37	chrX	154448565	154448565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtttatggaactcaacCttgctcaaaagaaaagaagg	18	9	8	6	0	2	2	2	0	0	2	2	3	2	3	1	2	3	2	1	2	9	4			TCGA-5U-AB0D-01A-11D-A423-09	TCGA-5U-AB0D-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	65797cd5-d594-4b25-ba60-bf64c52bffbe	bd0b90dc-78fd-4951-8c1f-ac242acf62d3	g.chrX:154448565C>T	ENST00000286428.5	+	2	316	c.199C>T	c.(199-201)Ctt>Ttt	p.L67F	VBP1_ENST00000535916.1_Missense_Mutation_p.L62F	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	67					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)				NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	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)					GGAACTCAACCTTGCTCAAAA	0.299																																							0											0													33	31	32					X																	154448565		2203	4296	6499	SO:0001583	missense	0			U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"prefoldin 3"	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.199C>T	X.37:g.154448565C>T	ENSP00000286428:p.Leu67Phe		B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Missense_Mutation	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,pirsf_Prefoldin_su-3	p.L67F	ENST00000286428.5	37	c.199	CCDS14765.1	X	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433095	0.62844	.	.	ENSG00000155959	ENST00000535916;ENST00000286428	D;D	0.84146	-1.81;-1.81	4.74	4.74	0.60224	Prefoldin (1);Prefoldin subunit (1);	0.123532	0.56097	D	0.000039	D	0.89220	0.6653	M	0.69463	2.115	0.80722	D	1	D	0.64830	0.994	D	0.64410	0.925	D	0.89532	0.3786	10	0.87932	D	0	-2.7897	8.4962	0.33130	0.0:0.8879:0.0:0.1121	.	67	P61758	PFD3_HUMAN	F	62;67	ENSP00000438694:L62F;ENSP00000286428:L67F	ENSP00000286428:L67F	L	+	1	0	VBP1	154101759	1.000000	0.71417	0.977000	0.42913	0.916000	0.54674	5.748000	0.68697	2.263000	0.75096	0.600000	0.82982	CTT	0	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,pirsf_Prefoldin_su-3		0.299	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VBP1	protein_coding	OTTHUMT00000058806.1	150	247	0	0.00	0	0	C		0	0		154448565	1	no_errors	ENST00000286428	ensembl	human	known	74_37	missense	483	424	15.18	14.14	87	70	SNP	0.999	T	T	154448565	C	T	154448565	3	4	29	1	0	0	0	0	1	0	0	0	17133	681	24	3	205	3	VBP1	23	154448565	Missense_Mutation	SNP	C	TCGA-5U-AB0D-01A-11D-A423-09	1150868	154448565	821995	63	357											
CERKL	375298	genome.wustl.edu	37	chr2	182413585	182413585	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaccagctgtacatgccCttgaatattacattaaatat	13	13	6	9	1	0	1	0	1	0	0	1	2	0	1	2	0	4	2	2	0	7	6			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr2:182413585C>T	ENST00000339098.5	-	8	973		c.e8-1		CERKL_ENST00000410087.3_Splice_Site|CERKL_ENST00000374970.2_Splice_Site|CERKL_ENST00000374969.2_Splice_Site|CERKL_ENST00000479558.1_Splice_Site|CERKL_ENST00000409440.3_Splice_Site			Q49MI3	CERKL_HUMAN	ceramide kinase-like						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)			TGTACATGCCCTTGAATATTA	0.418																																							0											0													47	51	50					2																	182413585		2203	4300	6503	SO:0001630	splice_region_variant	0			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.974-1G>A	2.37:g.182413585C>T			B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Splice_Site	SNP	0	e8-1	ENST00000339098.5	37	c.974-1	CCDS42789.1	2	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218457	0.58560	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4529	0.94875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CERKL	182121830	1.000000	0.71417	0.996000	0.52242	0.309000	0.27889	7.629000	0.83207	2.595000	0.87683	0.655000	0.94253	.	0	0		0.418	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERKL	protein_coding	OTTHUMT00000334811.1	55	224	0	0.44	0	1	C		0	0	Intron	182413585	-1	no_errors	ENST00000339098	ensembl	human	known	74_37	splice_site	24	139	17.24	11.46	5	18	SNP	1	T	T	182413585	C	T	182413585	5	4	30	1	0	0	0	0	0	0	1	0	3268	695	24	3	731	3	CERKL	2	182413585	Splice_Site	SNP	C	TCGA-5U-AB0E-01A-11D-A423-09		182413585	60785788	1	358											
ANKMY1	51281	genome.wustl.edu	37	chr2	241463443	241463443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctcgatggagaagtcgCacacacacacgttggactca	13	6	11	11	3	1	2	1	0	0	2	3	5	1	3	0	2	1	3	0	2	1	1			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr2:241463443C>T	ENST00000272972.3	-	7	1638	c.1424G>A	c.(1423-1425)tGc>tAc	p.C475Y	ANKMY1_ENST00000405523.3_Missense_Mutation_p.C334Y|ANKMY1_ENST00000405002.1_Missense_Mutation_p.C245Y|ANKMY1_ENST00000361678.4_Missense_Mutation_p.C334Y|ANKMY1_ENST00000373318.2_Missense_Mutation_p.C334Y|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000403283.1_Missense_Mutation_p.C413Y|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000536462.1_Missense_Mutation_p.C287Y|ANKMY1_ENST00000401804.1_Missense_Mutation_p.C564Y|ANKMY1_ENST00000391987.1_Missense_Mutation_p.C475Y|ANKMY1_ENST00000373320.4_Missense_Mutation_p.C245Y	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	475							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)		GGAGAAGTCGCACACACACAC	0.592																																							0											0													136	119	125					2																	241463443		2203	4300	6503	SO:0001583	missense	0			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.1424G>A	2.37:g.241463443C>T	ENSP00000272972:p.Cys475Tyr		B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	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.C475Y	ENST00000272972.3	37	c.1424	CCDS2536.1	2	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.471892	0.01044	.	.	ENSG00000144504	ENST00000373318;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002	T;T;T;T;T;T;T;T;T;T	0.54866	2.98;0.57;2.31;0.57;4.45;2.54;0.55;2.3;2.29;2.55	4.06	-6.9	0.01655	Ankyrin repeat-containing domain (1);	2.406280	0.01487	N	0.016917	T	0.29158	0.0725	L	0.27053	0.805	0.09310	N	1	B;B;B;B;P;B	0.38020	0.005;0.035;0.063;0.021;0.615;0.005	B;B;B;B;B;B	0.34038	0.003;0.006;0.014;0.005;0.174;0.003	T	0.37842	-0.9688	10	0.02654	T	1	-33.9051	6.9227	0.24397	0.1167:0.3437:0.0:0.5396	.	475;287;245;334;334;475	Q4ZFV3;F5H558;Q9P2S6-4;Q6GPI0;Q9P2S6-2;Q9P2S6	.;.;.;.;.;ANKY1_HUMAN	Y	334;475;334;475;245;413;564;287;334;245	ENSP00000362415:C334Y;ENSP00000272972:C475Y;ENSP00000355097:C334Y;ENSP00000375847:C475Y;ENSP00000362417:C245Y;ENSP00000383968:C413Y;ENSP00000385887:C564Y;ENSP00000444707:C287Y;ENSP00000385635:C334Y;ENSP00000385145:C245Y	ENSP00000272972:C475Y	C	-	2	0	ANKMY1	241112116	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.156000	0.01283	-1.770000	0.01295	0.491000	0.48974	TGC	0	superfamily_Ankyrin_rpt-contain_dom		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	protein_coding	OTTHUMT00000257187.2	53	133	0	0.00	0	0	C	NM_017844	0	0		241463443	-1	no_errors	ENST00000272972	ensembl	human	known	74_37	missense	26	74	15.15	17.78	5	16	SNP	0	T	T	241463443	C	T	241463443	3	4	30	1	0	0	0	0	1	0	0	0	634	710	25	3	1445	3	ANKMY1	2	241463443	Missense_Mutation	SNP	C	TCGA-5U-AB0E-01A-11D-A423-09	59049858	241463443	1735930	2	359											
NR1I2	8856	genome.wustl.edu	37	chr3	119534575	119534575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccctcccctccagacCgcccaggtgtgctgcagcac	6	6	8	21	1	0	1	0	0	0	1	3	1	3	1	7	1	3	3	7	1	0	0			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr3:119534575C>T	ENST00000337940.4	+	8	1222	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	NR1I2_ENST00000393716.2_Missense_Mutation_p.R353C|NR1I2_ENST00000466380.1_Missense_Mutation_p.R316C	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	353	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)	CCCTCCAGACCGCCCAGGTGT	0.602																																							0											0													40	33	35					3																	119534575		2203	4300	6503	SO:0001583	missense	0			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.1174C>T	3.37:g.119534575C>T	ENSP00000336528:p.Arg392Cys		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	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,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.R392C	ENST00000337940.4	37	c.1174	CCDS2995.1	3	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845477	0.71603	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.96940	-4.18;-4.18;-4.18	5.04	4.14	0.48551	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.90252	3.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.98956	1.0796	10	0.87932	D	0	.	13.0135	0.58743	0.0:0.8366:0.1634:0.0	.	353;392;339	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	C	353;316;392	ENSP00000377319:R353C;ENSP00000420297:R316C;ENSP00000336528:R392C	ENSP00000336528:R392C	R	+	1	0	NR1I2	121017265	1.000000	0.71417	0.990000	0.47175	0.725000	0.41563	4.115000	0.57865	1.299000	0.44798	0.561000	0.74099	CGC	0	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.602	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	protein_coding	OTTHUMT00000355126.1	30	176	0	0.00	0	0	C		0	0		119534575	1	no_errors	ENST00000337940	ensembl	human	known	74_37	missense	9	111	25	13.95	3	18	SNP	1	T	T	119534575	C	T	119534575	3	4	30	1	0	0	0	0	1	0	0	0	10620	652	23	2	1204	2	NR1I2	3	119534575	Missense_Mutation	SNP	C	TCGA-5U-AB0E-01A-11D-A423-09		119534575	78487855	3	360											
COL6A5	256076	genome.wustl.edu	37	chr3	130113830	130113830	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaactttcttgtcagaCttaatcgataattttgacat	13	16	5	7	1	2	3	1	2	1	1	3	4	2	3	0	0	1	0	0	0	3	6			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr3:130113830C>G	ENST00000432398.2	+	8	3584	c.3090C>G	c.(3088-3090)gaC>gaG	p.D1030E	COL6A5_ENST00000265379.6_Missense_Mutation_p.D1030E	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1030	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						TCTTGTCAGACTTAATCGATA	0.373																																							0											0													93	80	84					3																	130113830		692	1591	2283	SO:0001583	missense	0			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.3090C>G	3.37:g.130113830C>G	ENSP00000390895:p.Asp1030Glu		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.D1030E	ENST00000432398.2	37	c.3090		3	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578333	0.28180	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.82803	-1.65;-1.65	5.63	1.54	0.23209	.	.	.	.	.	T	0.69223	0.3087	L	0.43152	1.355	0.21147	N	0.999776	B	0.14012	0.009	B	0.21708	0.036	T	0.52689	-0.8542	9	0.02654	T	1	.	3.2248	0.06728	0.3187:0.4263:0.0:0.255	.	1030	A8TX70-2	.	E	1030	ENSP00000390895:D1030E;ENSP00000265379:D1030E	ENSP00000265379:D1030E	D	+	3	2	COL6A5	131596520	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	-1.254000	0.02874	0.302000	0.22762	0.491000	0.48974	GAC	0	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.373	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	protein_coding		70	380	0	0.00	0	0	C	NM_153264	0	0		130113830	1	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	47	204	9.62	11.30	5	26	SNP	0.868	G	G	130113830	C	G	130113830	3	3	30	1	0	0	0	0	1	0	0	0	3702	564	20	5	3116	5	COL6A5	3	130113830	Missense_Mutation	SNP	C	TCGA-5U-AB0E-01A-11D-A423-09	10579255	130113830	67908600	4	361											
GAK	2580	genome.wustl.edu	37	chr4	870324	870324	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggtaccaacgtacttggcaAatttcacagtggtggcgttc	9	11	11	10	3	1	0	1	0	0	0	2	0	1	0	1	4	3	4	1	4	4	5			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr4:870324A>T	ENST00000314167.4	-	18	2158	c.2048T>A	c.(2047-2049)tTt>tAt	p.F683Y	GAK_ENST00000511163.1_Missense_Mutation_p.F604Y	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	683	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)		GTACTTGGCAAATTTCACAGT	0.597																																							0											0													151	125	134					4																	870324		2203	4300	6503	SO:0001583	missense	0			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.2048T>A	4.37:g.870324A>T	ENSP00000314499:p.Phe683Tyr		Q5U4P5|Q9BVY6	Missense_Mutation	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.F683Y	ENST00000314167.4	37	c.2048	CCDS3340.1	4	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296578	0.81025	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.89196	-2.48;-2.48	5.26	5.26	0.73747	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92378	0.7581	L	0.60957	1.885	0.80722	D	1	D;D;D;D	0.71674	0.998;0.994;0.998;0.998	D;D;D;D	0.70227	0.968;0.934;0.962;0.962	D	0.92239	0.5799	10	0.48119	T	0.1	-9.3552	13.1095	0.59265	1.0:0.0:0.0:0.0	.	604;604;683;579	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	Y	683;604	ENSP00000314499:F683Y;ENSP00000421361:F604Y	ENSP00000314499:F683Y	F	-	2	0	GAK	860324	1.000000	0.71417	0.783000	0.31826	0.556000	0.35491	9.013000	0.93629	1.979000	0.57680	0.459000	0.35465	TTT	0	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom		0.597	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	protein_coding	OTTHUMT00000239188.1	42	206	0	0.00	0	0	A	NM_005255	0	0		870324	-1	no_errors	ENST00000314167	ensembl	human	known	74_37	missense	22	155	18.52	15.30	5	28	SNP	1	T	T	870324	A	T	870324	3	4	30	1	0	0	0	0	1	0	0	0	6195	14	1	5	1931	5	GAK	4	870324	Missense_Mutation	SNP	A	TCGA-5U-AB0E-01A-11D-A423-09		870324	190283952	5	362											
OTUD4	54726	genome.wustl.edu	37	chr4	146085314	146085314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaaaattcttaccttttcagGaaaattattttctgttactt	13	19	3	6	0	3	0	1	0	2	0	3	1	3	1	1	1	2	1	1	1	7	9			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr4:146085314G>C	ENST00000447906.2	-	5	593	c.406C>G	c.(406-408)Cct>Gct	p.P136A	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.P71A|OTUD4_ENST00000296579.6_Missense_Mutation_p.P71A|OTUD4_ENST00000509620.2_Missense_Mutation_p.P71A			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	136	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				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)					ACCTTTTCAGGAAAATTATTT	0.264																																							0											0													13	13	13					4																	146085314		2103	4195	6298	SO:0001583	missense	0				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.406C>G	4.37:g.146085314G>C	ENSP00000395487:p.Pro136Ala		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.P136A	ENST00000447906.2	37	c.406		4	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433661	0.25813	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973;ENST00000509620;ENST00000296579;ENST00000504501	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.45	5.45	0.79879	Ovarian tumour, otubain (2);	0.129316	0.35040	N	0.003486	T	0.23451	0.0567	L	0.45698	1.435	0.31980	N	0.60607	B;B	0.32324	0.314;0.364	B;B	0.31686	0.075;0.134	T	0.15723	-1.0427	10	0.10111	T	0.7	-15.7005	9.9531	0.41651	0.1531:0.0:0.8469:0.0	.	136;136	G3V0I6;Q01804	.;OTUD4_HUMAN	A	71;136;71;71;71;71	ENSP00000409279:P71A;ENSP00000395487:P136A;ENSP00000425972:P71A;ENSP00000424192:P71A;ENSP00000296579:P71A;ENSP00000423453:P71A	ENSP00000296579:P71A	P	-	1	0	OTUD4	146304764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.020000	0.49643	2.550000	0.86006	0.591000	0.81541	CCT	0	pfam_OTU,pfscan_OTU		0.264	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	protein_coding	OTTHUMT00000365117.2	134	464	0	0.22	0	1	G	NM_017493	0	0		146085314	-1	no_errors	ENST00000447906	ensembl	human	known	74_37	missense	158	280	9.2	13.54	16	44	SNP	1	C	C	146085314	G	C	146085314	3	2	30	1	0	0	0	0	1	0	0	0	11314	1174	41	5	3010	5	OTUD4	4	146085314	Missense_Mutation	SNP	G	TCGA-5U-AB0E-01A-11D-A423-09	145214990	146085314	45068962	6	363											
NLN	57486	genome.wustl.edu	37	chr5	65118617	65118617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattttattaggttggaatGaaatacagaaacctaatcct	15	15	6	5	0	0	2	0	1	0	1	1	3	1	3	2	2	2	1	2	2	8	7			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr5:65118617G>T	ENST00000380985.5	+	13	2167	c.1989G>T	c.(1987-1989)atG>atT	p.M663I	NLN_ENST00000515595.1_3'UTR|NLN_ENST00000502464.1_Missense_Mutation_p.M559I	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	663						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AGGTTGGAATGAAATACAGAA	0.403																																							0											0													90	92	91					5																	65118617		2203	4300	6503	SO:0001583	missense	0			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1989G>T	5.37:g.65118617G>T	ENSP00000370372:p.Met663Ile		Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.M663I	ENST00000380985.5	37	c.1989	CCDS3989.1	5	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080383	0.55753	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000511299	T;T;T	0.07688	3.17;3.17;3.17	5.75	5.75	0.90469	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.112813	0.85682	D	0.000000	T	0.12518	0.0304	L	0.45228	1.405	0.48040	D	0.999575	P;P	0.36086	0.536;0.536	B;B	0.38020	0.263;0.263	T	0.01578	-1.1320	10	0.62326	D	0.03	-20.7172	19.9598	0.97242	0.0:0.0:1.0:0.0	.	340;663	Q96K48;Q9BYT8	.;NEUL_HUMAN	I	663;559;373	ENSP00000370372:M663I;ENSP00000423214:M559I;ENSP00000427417:M373I	ENSP00000370372:M663I	M	+	3	0	NLN	65154373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.018000	0.70811	2.716000	0.92895	0.655000	0.94253	ATG	0	pfam_Pept_M3A_M3B		0.403	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	protein_coding	OTTHUMT00000215060.1	79	355	0	0.00	0	0	G		0	0		65118617	1	no_errors	ENST00000380985	ensembl	human	known	74_37	missense	53	254	8.62	4.87	5	13	SNP	1	T	T	65118617	G	T	65118617	3	4	30	1	0	0	0	0	1	0	0	0	10467	1290	45	5	2039	5	NLN	5	65118617	Missense_Mutation	SNP	G	TCGA-5U-AB0E-01A-11D-A423-09		65118617	115796643	7	364											
MUC21	394263	genome.wustl.edu	37	chr6	30954863	30954863	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacagccaccaactctgAgtccagtacgacctccagtg	12	6	7	16	1	1	1	0	1	1	0	3	2	3	1	5	0	4	1	5	0	3	1	rs201896109		TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr6:30954863A>G	ENST00000376296.3	+	2	1152	c.911A>G	c.(910-912)gAg>gGg	p.E304G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	304	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						ACCAACTCTGAGTCCAGTACG	0.592																																							0											0													179	171	174					6																	30954863		2203	4300	6503	SO:0001583	missense	0			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.911A>G	6.37:g.30954863A>G	ENSP00000365473:p.Glu304Gly		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	NULL	p.E304G	ENST00000376296.3	37	c.911	CCDS34388.1	6	.	.	.	.	.	.	.	.	.	.	a	9.955	1.221199	0.22457	.	.	ENSG00000204544	ENST00000376296	T	0.01388	4.95	4.34	-8.68	0.00859	.	.	.	.	.	T	0.00271	0.0008	N	0.17082	0.46	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.46843	-0.9162	8	.	.	.	0.4247	3.691	0.08346	0.3484:0.4214:0.1287:0.1016	.	304	Q5SSG8	MUC21_HUMAN	G	304	ENSP00000365473:E304G	.	E	+	2	0	MUC21	31062842	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-7.586000	0.00033	-1.510000	0.01796	0.482000	0.46254	GAG	0	NULL		0.592	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	protein_coding	OTTHUMT00000128579.3	60	0	0	0.00	0	0	A	NM_001010909	rs201896109	A->G		30954863	1	no_errors	ENST00000376296	ensembl	human	known	74_37	missense	51	2	8.93	0.00	5	0	SNP	0	G	G	30954863	A	G	30954863	3	3	30	1	0	0	0	0	1	0	0	0	9977	304	11	4	917	4	MUC21	6	30954863	Missense_Mutation	SNP	A	TCGA-5U-AB0E-01A-11D-A423-09		30954863	140160204	8	365											
GRM4	2914	genome.wustl.edu	37	chr6	34101191	34101191	+	Frame_Shift_Del	DEL	G	G	-																															tgggctttcccagggaggaaGgcatccaggggccgtaaagg																										TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr6:34101191delG	ENST00000538487.2	-	2	526	c.83delC	c.(82-84)cctfs	p.P28fs	GRM4_ENST00000374181.4_Frame_Shift_Del_p.P28fs|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	28					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						CAGGGAGGAAGGCATCCAGGG	0.627																																							0											0													32	33	32					6																	34101191		2201	4300	6501	SO:0001589	frameshift_variant	0			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.83delC	6.37:g.34101191delG	ENSP00000440556:p.Pro28fs		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Frame_Shift_Del	DEL	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.P28fs	ENST00000538487.2	37	c.83	CCDS4787.1	6																																																																																			0	prints_GPCR_3_mtglu_rcpt_4		0.627	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	protein_coding	OTTHUMT00000040213.2	62	164	0	0.00	0	0	G		0	0		34101191	-1	no_errors	ENST00000374181	ensembl	human	known	74_37	frame_shift_del	42	105	12.5	16.00	6	20	DEL	0.793	0	-	34101191	G	-	34101191	7	5	30	1	0	1	0	1	0	0	0	0	6799	1000	35	0	2695	0	GRM4	6	34101191	Frame_Shift_Del	DEL	G	TCGA-5U-AB0E-01A-11D-A423-09	3146328	34101191	137013876	9	366											
DAAM2	23500	genome.wustl.edu	37	chr6	39864707	39864707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggcgcctacgggttcCgggtggccagcctcaacaag	6	6	17	12	3	1	0	1	0	0	0	2	0	2	0	4	5	3	1	4	5	3	2			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr6:39864707C>T	ENST00000398904.2	+	20	2643	c.2461C>T	c.(2461-2463)Cgg>Tgg	p.R821W	RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R821W|DAAM2_ENST00000538976.1_Missense_Mutation_p.R821W|RP11-61I13.3_ENST00000437947.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	821	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)					CTACGGGTTCCGGGTGGCCAG	0.597																																							0											0													37	43	41					6																	39864707		2025	4162	6187	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2461C>T	6.37:g.39864707C>T	ENSP00000381876:p.Arg821Trp		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.R821W	ENST00000398904.2	37	c.2461	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112975	0.77210	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.65549	-0.16;-0.16;-0.16	4.66	4.66	0.58398	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.170378	0.35040	N	0.003487	T	0.73536	0.3599	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.982;0.99	T	0.77603	-0.2526	10	0.87932	D	0	.	10.1959	0.43054	0.3124:0.6876:0.0:0.0	.	821;821	G5EA45;Q86T65	.;DAAM2_HUMAN	W	821	ENSP00000274867:R821W;ENSP00000381876:R821W;ENSP00000437808:R821W	ENSP00000274867:R821W	R	+	1	2	DAAM2	39972685	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.390000	0.59646	2.433000	0.82419	0.561000	0.74099	CGG	0	pfam_FH2_Formin,smart_FH2_Formin		0.597	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	protein_coding	OTTHUMT00000280648.1	36	178	0	0.00	0	0	C		0	0		39864707	1	no_errors	ENST00000274867	ensembl	human	known	74_37	missense	16	81	20	17.35	4	17	SNP	1	T	T	39864707	C	T	39864707	3	4	30	1	0	0	0	0	1	0	0	0	4216	643	23	2	2535	2	DAAM2	6	39864707	Missense_Mutation	SNP	C	TCGA-5U-AB0E-01A-11D-A423-09	5763516	39864707	131250360	10	367											
HOXA1	3198	genome.wustl.edu	37	chr7	27134902	27134902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttgggagggtttcttttGactttcatccagtcaaaagt	8	17	10	6	0	3	1	2	1	1	0	4	2	4	2	1	2	0	2	1	2	2	6			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr7:27134902G>A	ENST00000343060.4	-	1	691	c.630C>T	c.(628-630)gtC>gtT	p.V210V	HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	210					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						GGTTTCTTTTGACTTTCATCC	0.493																																							0											0													49	56	54					7																	27134902		2203	4300	6503	SO:0001819	synonymous_variant	0				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.630C>T	7.37:g.27134902G>A			A4D184|B2R8U7|O43363	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.V210	ENST00000343060.4	37	c.630	CCDS5401.1	7																																																																																			0	NULL		0.493	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA1	protein_coding	OTTHUMT00000358454.1	50	189	0	0.00	0	0	G		0	0		27134902	-1	no_errors	ENST00000343060	ensembl	human	known	74_37	silent	38	184	9.52	11.11	4	23	SNP	0.997	A	A	27134902	G	A	27134902	2	1	30	1	0	0	0	0	0	0	0	1	7288	1277	45	3		3	HOXA1	7	27134902	Silent	SNP	G	TCGA-5U-AB0E-01A-11D-A423-09		27134902	132003761	11	368											
SLC13A1	6561	genome.wustl.edu	37	chr7	122768933	122768933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaaccaggaacaaatcCggggtctcgactaaaccata	16	5	8	12	2	1	1	0	0	1	1	3	3	2	2	4	3	3	0	4	3	6	2			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr7:122768933C>T	ENST00000194130.2	-	10	1138	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	367					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)	GGAACAAATCCGGGGTCTCGA	0.423																																							0											0													92	79	83					7																	122768933		2203	4300	6503	SO:0001583	missense	0				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1099G>A	7.37:g.122768933C>T	ENSP00000194130:p.Gly367Arg		Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.G367R	ENST00000194130.2	37	c.1099	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638879	0.47153	.	.	ENSG00000081800	ENST00000194130	T	0.69040	-0.37	5.89	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86244	0.1645	10	0.66056	D	0.02	-31.8333	15.4962	0.75653	0.1395:0.8605:0.0:0.0	.	367;367	A4D0X1;Q9BZW2	.;S13A1_HUMAN	R	367	ENSP00000194130:G367R	ENSP00000194130:G367R	G	-	1	0	SLC13A1	122556169	1.000000	0.71417	0.179000	0.23059	0.013000	0.08279	6.481000	0.73608	1.483000	0.48342	-0.311000	0.09066	GGA	0	pfam_Na/sul_symport		0.423	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	protein_coding	OTTHUMT00000347404.1	45	321	0	0.00	0	0	C	NM_022444	0	0		122768933	-1	no_errors	ENST00000194130	ensembl	human	known	74_37	missense	35	258	16.28	13.71	7	41	SNP	0.996	T	T	122768933	C	T	122768933	3	4	30	1	0	0	0	0	1	0	0	0	14391	661	23	2	712	2	SLC13A1	7	122768933	Missense_Mutation	SNP	C	TCGA-5U-AB0E-01A-11D-A423-09	95634031	122768933	36369730	12	369											
CHD2	1106	genome.wustl.edu	37	chr15	93528867	93528867	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaggagtgtgcggaaggAcctcgtggagggatttactg	8	9	17	7	3	0	0	0	0	0	0	2	6	1	5	2	5	2	0	2	5	2	2			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr15:93528867A>G	ENST00000394196.4	+	26	4445	c.3377A>G	c.(3376-3378)gAc>gGc	p.D1126G	CHD2_ENST00000557381.1_Missense_Mutation_p.D1126G	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1126					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)			GTGCGGAAGGACCTCGTGGAG	0.532																																							0											0													147	128	134					15																	93528867		2197	4298	6495	SO:0001583	missense	0			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.3377A>G	15.37:g.93528867A>G	ENSP00000377747:p.Asp1126Gly		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.D1126G	ENST00000394196.4	37	c.3377	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660541	0.67586	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.80214	-1.35;-1.35	5.18	5.18	0.71444	.	0.000000	0.35466	U	0.003191	T	0.77425	0.4128	L	0.56769	1.78	0.80722	D	1	B;P	0.35139	0.39;0.486	B;B	0.31946	0.079;0.138	T	0.79797	-0.1652	10	0.72032	D	0.01	-24.5992	15.0364	0.71751	1.0:0.0:0.0:0.0	.	1126;1126	O14647;O14647-2	CHD2_HUMAN;.	G	1126	ENSP00000377747:D1126G;ENSP00000451366:D1126G	ENSP00000377747:D1126G	D	+	2	0	CHD2	91329871	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.923000	0.92808	1.958000	0.56883	0.528000	0.53228	GAC	0	NULL		0.532	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	protein_coding	OTTHUMT00000313528.3	78	166	0	0.00	0	0	A	NM_001271	0	0		93528867	1	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	61	164	10.29	5.71	7	10	SNP	1	G	G	93528867	A	G	93528867	3	3	30	1	0	0	0	0	1	0	0	0	3325	275	10	3	3479	3	CHD2	15	93528867	Missense_Mutation	SNP	A	TCGA-5U-AB0E-01A-11D-A423-09		93528867	9002525	13	370											
FAM169B	283777	genome.wustl.edu	37	chr15	99023847	99023847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctttcatcttggttgtgtAaaacccaacagccgctccac	10	11	6	14	1	2	0	1	0	1	0	3	0	3	0	4	1	3	3	4	1	3	4			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr15:99023847A>G	ENST00000558256.1	-	4	415	c.166T>C	c.(166-168)Tac>Cac	p.Y56H	FAM169B_ENST00000332908.4_Missense_Mutation_p.Y56H	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	56										large_intestine(3)|lung(3)|urinary_tract(1)	7						TTGGTTGTGTAAAACCCAACA	0.512																																							0											0													94	94	94					15																	99023847		1943	4159	6102	SO:0001583	missense	0				CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.166T>C	15.37:g.99023847A>G	ENSP00000453554:p.Tyr56His		B5MDL8	Missense_Mutation	SNP	NULL	p.Y56H	ENST00000558256.1	37	c.166	CCDS45360.1	15	.	.	.	.	.	.	.	.	.	.	A	19.20	3.781014	0.70222	.	.	ENSG00000185087	ENST00000332908	T	0.36878	1.23	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000001	T	0.56877	0.2015	M	0.62723	1.935	0.38315	D	0.943373	D	0.89917	1.0	D	0.87578	0.998	T	0.64592	-0.6371	10	0.87932	D	0	-16.402	13.6652	0.62391	1.0:0.0:0.0:0.0	.	56	Q8N8A8	F169B_HUMAN	H	56	ENSP00000332615:Y56H	ENSP00000332615:Y56H	Y	-	1	0	FAM169B	96841370	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.977000	0.76141	1.894000	0.54839	0.533000	0.62120	TAC	0	NULL		0.512	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169B	protein_coding	OTTHUMT00000415488.1	49	218	0	0.00	0	0	A	NM_182562	0	0		99023847	-1	no_errors	ENST00000332908	ensembl	human	known	74_37	missense	57	149	8.06	15.82	5	28	SNP	1	G	G	99023847	A	G	99023847	3	3	30	1	0	0	0	0	1	0	0	0	5488	362	13	3	428	3	FAM169B	15	99023847	Missense_Mutation	SNP	A	TCGA-5U-AB0E-01A-11D-A423-09	5494980	99023847	3507545	14	371											
SDK2	54549	genome.wustl.edu	37	chr17	71382583	71382583	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctggggaaggggtactgaCcagcctgcagggtggtcagt	7	8	18	8	0	1	1	1	1	0	0	1	2	1	2	2	6	4	3	2	6	2	1			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr17:71382583C>A	ENST00000392650.3	-	31	4499		c.e31+1		SDK2_ENST00000388726.3_Splice_Site	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 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						GGGGTACTGACCAGCCTGCAG	0.592																																							0											0													46	39	41					17																	71382583		2175	4238	6413	SO:0001630	splice_region_variant	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4498+1G>T	17.37:g.71382583C>A			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Splice_Site	SNP	0	e31+1	ENST00000392650.3	37	c.4498+1	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071819	0.55646	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0783	0.89435	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDK2	68894178	1.000000	0.71417	0.999000	0.59377	0.317000	0.28152	6.021000	0.70832	2.374000	0.81015	0.609000	0.83330	.	0	0		0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	97	84	0	0.00	0	0	C	NM_019064	0	0	Intron	71382583	-1	no_errors	ENST00000392650	ensembl	human	known	74_37	splice_site	55	40	32.93	36.51	27	23	SNP	1	A	A	71382583	C	A	71382583	5	1	30	1	0	0	0	0	0	0	1	0	13969	521	18	5	2079	5	SDK2	17	71382583	Splice_Site	SNP	C	TCGA-5U-AB0E-01A-11D-A423-09		71382583	9812627	15	372											
SLC16A3	9123	genome.wustl.edu	37	chr17	80195443	80195443	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacaccaaggccgccttccTgctcaccatcctgggcttca	7	8	8	18	2	2	0	2	0	0	0	4	1	4	0	6	2	1	2	6	2	1	2	rs201989214		TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr17:80195443T>A	ENST00000581287.1	+	3	3119	c.797T>A	c.(796-798)cTg>cAg	p.L266Q	SLC16A3_ENST00000392341.1_Missense_Mutation_p.L266Q|SLC16A3_ENST00000582743.1_Missense_Mutation_p.L266Q|SLC16A3_ENST00000392339.1_Missense_Mutation_p.L266Q	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	266					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	GCCGCCTTCCTGCTCACCATC	0.682																																					Pancreas(52;652 1135 19190 37282 52456)		0											0													47	54	52					17																	80195443		2201	4299	6500	SO:0001583	missense	0			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.797T>A	17.37:g.80195443T>A	ENSP00000463978:p.Leu266Gln		B3KXG8|Q2M1P8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.L266Q	ENST00000581287.1	37	c.797	CCDS11804.1	17	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451838	0.43531	.	.	ENSG00000141526	ENST00000392341;ENST00000392339	T;T	0.61158	0.13;0.13	5.72	5.72	0.89469	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	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86199	0.1617	10	0.87932	D	0	.	15.1765	0.72916	0.0:0.0:0.0:1.0	.	266;266	Q53G91;O15427	.;MOT4_HUMAN	Q	266	ENSP00000376152:L266Q;ENSP00000376150:L266Q	ENSP00000376150:L266Q	L	+	2	0	SLC16A3	77788732	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	7.961000	0.87903	2.184000	0.69523	0.455000	0.32223	CTG	0	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.682	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A3	protein_coding	OTTHUMT00000443498.1	138	96	0	0.00	0	0	T	NM_004207	0	0		80195443	1	no_errors	ENST00000392339	ensembl	human	known	74_37	missense	46	45	29.23	36.62	19	26	SNP	1	A	A	80195443	T	A	80195443	3	1	30	1	0	0	0	0	1	0	0	0	14409	1580	55	5	807	5	SLC16A3	17	80195443	Missense_Mutation	SNP	T	TCGA-5U-AB0E-01A-11D-A423-09	8812860	80195443	999767	16	373											
OR7C2	26658	genome.wustl.edu	37	chr19	15053237	15053237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcaacgtctctcaaagagGggaccattgctaagctctca	11	8	11	11	1	3	1	2	0	2	1	5	2	3	2	1	3	3	3	1	3	3	2			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr19:15053237G>A	ENST00000248072.3	+	1	937	c.937G>A	c.(937-939)Ggg>Agg	p.G313R		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	313						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(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCTCAAAGAGGGGACCATTGC	0.488																																							0											0													50	50	50					19																	15053237		2203	4300	6503	SO:0001583	missense	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.937G>A	19.37:g.15053237G>A	ENSP00000248072:p.Gly313Arg		O43881|Q6IFP9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G313R	ENST00000248072.3	37	c.937	CCDS12320.1	19	.	.	.	.	.	.	.	.	.	.	g	4.815	0.151606	0.09185	.	.	ENSG00000127529	ENST00000248072	T	0.06294	3.32	3.11	-5.92	0.02261	.	0.310946	0.22630	N	0.057599	T	0.02610	0.0079	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.42783	-0.9431	10	0.13853	T	0.58	.	1.0502	0.01578	0.4341:0.1472:0.2494:0.1693	.	313	O60412	OR7C2_HUMAN	R	313	ENSP00000248072:G313R	ENSP00000248072:G313R	G	+	1	0	OR7C2	14914237	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.989000	0.03736	-1.117000	0.02965	-0.603000	0.04100	GGG	0	NULL		0.488	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	protein_coding	OTTHUMT00000466281.1	27	170	0	0.00	0	0	G		0	0		15053237	1	no_errors	ENST00000248072	ensembl	human	known	74_37	missense	26	115	16.13	9.45	5	12	SNP	0	A	A	15053237	G	A	15053237	3	1	30	1	0	0	0	0	1	0	0	0	11218	1232	43	3	939	3	OR7C2	19	15053237	Missense_Mutation	SNP	G	TCGA-5U-AB0E-01A-11D-A423-09		15053237	44075746	17	374											
TSHZ3	57616	genome.wustl.edu	37	chr19	31768987	31768987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacatgggtttcaggggcGtgctcttccccgacgagccc	7	8	12	14	3	2	0	1	0	1	0	3	2	3	0	3	3	3	2	3	3	1	2			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr19:31768987G>T	ENST00000240587.4	-	2	2039	c.1712C>A	c.(1711-1713)aCg>aAg	p.T571K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	571					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)					TTTCAGGGGCGTGCTCTTCCC	0.597																																							0											0													107	108	107					19																	31768987		2203	4300	6503	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1712C>A	19.37:g.31768987G>T	ENSP00000240587:p.Thr571Lys		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.T571K	ENST00000240587.4	37	c.1712	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	G	9.736	1.163674	0.21538	.	.	ENSG00000121297	ENST00000240587	T	0.33216	1.42	5.2	4.17	0.49024	.	0.330798	0.36200	N	0.002739	T	0.20455	0.0492	N	0.22421	0.69	0.42521	D	0.993001	B	0.23650	0.089	B	0.17433	0.018	T	0.04153	-1.0973	10	0.20519	T	0.43	-1.4917	13.8323	0.63389	0.0741:0.0:0.9259:0.0	.	571	Q63HK5	TSH3_HUMAN	K	571	ENSP00000240587:T571K	ENSP00000240587:T571K	T	-	2	0	TSHZ3	36460827	1.000000	0.71417	0.001000	0.08648	0.265000	0.26407	5.411000	0.66386	1.182000	0.42928	0.655000	0.94253	ACG	0	NULL		0.597	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	protein_coding	OTTHUMT00000316743.2	47	157	0	0.00	0	0	G	NM_020856	0	0		31768987	-1	no_errors	ENST00000240587	ensembl	human	known	74_37	missense	34	142	10.53	17.82	4	31	SNP	0.794	T	T	31768987	G	T	31768987	3	4	30	1	0	0	0	0	1	0	0	0	16622	1145	40	5	1537	5	TSHZ3	19	31768987	Missense_Mutation	SNP	G	TCGA-5U-AB0E-01A-11D-A423-09	16715750	31768987	27359996	18	375											
SARS2	54938	genome.wustl.edu	37	chr19	39409099	39409099	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttccagccaggttgagAtctttgaagcgggcagggtc	7	10	15	9	1	1	2	0	2	1	1	3	3	2	2	2	3	2	4	2	3	1	3			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr19:39409099A>T	ENST00000221431.6	-	9	1038	c.879T>A	c.(877-879)gaT>gaA	p.D293E	SARS2_ENST00000430193.3_Missense_Mutation_p.D293E|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.S363T|SARS2_ENST00000448145.2_Missense_Mutation_p.D293E|SARS2_ENST00000600042.1_Missense_Mutation_p.D295E|SARS2_ENST00000598831.1_5'Flank|SARS2_ENST00000594171.1_Missense_Mutation_p.D103E	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	293					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCAGGTTGAGATCTTTGAAGC	0.597																																							0											0													145	127	133					19																	39409099		2203	4300	6503	SO:0001583	missense	0			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.879T>A	19.37:g.39409099A>T	ENSP00000221431:p.Asp293Glu		A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1	p.D295E	ENST00000221431.6	37	c.885	CCDS33017.1	19	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632460	0.29068	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145	T;T	0.77229	-1.08;-1.08	4.47	2.32	0.28847	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.128179	0.49916	D	0.000133	T	0.80221	0.4583	L	0.49455	1.56	.	.	.	P;D;B;B	0.65815	0.546;0.995;0.303;0.154	B;P;B;B	0.60789	0.112;0.879;0.073;0.053	T	0.82436	-0.0458	9	0.49607	T	0.09	.	9.0602	0.36429	0.1888:0.0:0.8112:0.0	.	293;295;293;293	E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;SYSM_HUMAN	E	295;293;293	ENSP00000221431:D293E;ENSP00000399330:D293E	ENSP00000221431:D293E	D	-	3	2	FBXO17	44100939	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	1.768000	0.38511	0.328000	0.23435	0.254000	0.18369	GAT	0	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1		0.597	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SARS2	protein_coding	OTTHUMT00000463139.1	51	201	0	0.00	0	0	A	NM_017827	0	0		39409099	-1	no_errors	ENST00000600042	ensembl	human	known	74_37	missense	31	159	18.42	11.67	7	21	SNP	1	T	T	39409099	A	T	39409099	3	4	30	1	0	0	0	0	1	0	0	0	13845	330	12	5	709	5	SARS2	19	39409099	Missense_Mutation	SNP	A	TCGA-5U-AB0E-01A-11D-A423-09	7640112	39409099	19719884	19	376											
ADCK4	79934	genome.wustl.edu	37	chr19	41198227	41198227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcataagggccctgggtggCgaaaggctcccccaggatca	9	6	14	12	1	2	0	2	0	0	0	3	2	3	1	3	5	0	1	3	5	2	1			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr19:41198227C>T	ENST00000324464.3	-	15	1649	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	NUMBL_ENST00000598779.1_5'Flank|NUMBL_ENST00000599594.1_5'Flank|ADCK4_ENST00000450541.1_Missense_Mutation_p.A409T|NUMBL_ENST00000252891.4_5'Flank|NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.A409T	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	450						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)			CCCTGGGTGGCGAAAGGCTCC	0.662																																							0											0													28	27	27					19																	41198227		2203	4299	6502	SO:0001583	missense	0			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.1348G>A	19.37:g.41198227C>T	ENSP00000315118:p.Ala450Thr		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.A450T	ENST00000324464.3	37	c.1348	CCDS12562.1	19	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713494	0.68730	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.75704	-0.96;-0.49;-0.49	5.43	5.43	0.79202	.	0.051648	0.85682	D	0.000000	T	0.76990	0.4065	M	0.64080	1.96	0.48341	D	0.999636	D;P	0.53462	0.96;0.952	B;P	0.49361	0.326;0.608	T	0.77918	-0.2408	10	0.46703	T	0.11	-14.9399	13.6297	0.62188	0.1556:0.8444:0.0:0.0	.	450;409	Q96D53;Q96D53-2	ADCK4_HUMAN;.	T	450;409;409	ENSP00000315118:A450T;ENSP00000412839:A409T;ENSP00000243583:A409T	ENSP00000243583:A409T	A	-	1	0	ADCK4	45890067	0.992000	0.36948	0.969000	0.41365	0.946000	0.59487	2.984000	0.49353	2.560000	0.86352	0.561000	0.74099	GCC	0	NULL		0.662	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	protein_coding	OTTHUMT00000462731.1	130	136	0	0.00	0	0	C	NM_024876	0	0		41198227	-1	no_errors	ENST00000324464	ensembl	human	known	74_37	missense	72	103	10	13.45	8	16	SNP	0.978	T	T	41198227	C	T	41198227	3	4	30	1	0	0	0	0	1	0	0	0	290	768	27	1	290	1	ADCK4	19	41198227	Missense_Mutation	SNP	C	TCGA-5U-AB0E-01A-11D-A423-09	1789128	41198227	17930756	20	377											
KLK8	11202	genome.wustl.edu	37	chr19	51503886	51503886	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccaccctctggggcagtgCgagggctgggaaggccactg	6	5	17	13	2	1	0	0	0	1	0	1	2	1	1	3	5	1	2	3	5	1	0			TCGA-5U-AB0E-01A-11D-A423-09	TCGA-5U-AB0E-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	40ef6685-feb5-4e37-97b1-96160aa3aaa7	5b9af8ea-c527-4e80-9c81-402d8c37bf4f	g.chr19:51503886C>T	ENST00000600767.1	-	4	560				KLK8_ENST00000391806.2_Silent_p.S53S|KLK8_ENST00000598195.1_5'Flank|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|KLK9_ENST00000250366.6_Intron|KLK9_ENST00000376832.4_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_Intron|KLK8_ENST00000347619.4_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8						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)		TGGGGCAGTGCGAGGGCTGGG	0.627																																							0											0													70	68	68					19																	51503886		2203	4300	6503	SO:0001627	intron_variant	0			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.71-47G>A	19.37:g.51503886C>T			Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.S53	ENST00000600767.1	37	c.159	CCDS12813.1	19																																																																																			0	NULL		0.627	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	protein_coding	OTTHUMT00000465032.2	41	205	0	0.00	0	0	C	NM_007196	0	0		51503886	-1	no_errors	ENST00000391806	ensembl	human	known	74_37	silent	28	126	17.65	8.03	6	11	SNP	0	T	T	51503886	C	T	51503886	1	4	30	0	1	0	0	0	0	0	0	0	8410	755	27	1		1	KLK8	19	51503886	Intron	SNP	C	TCGA-5U-AB0E-01A-11D-A423-09	10305659	51503886	7625097	21	378											
PCDHB13	56123	genome.wustl.edu	37	chr5	140594606	140594607	+	Frame_Shift_Ins	INS	-	-	A																															ttgacaggagaaattgaactINSaaaaaaacaactcgatttcg																								rs542637908	byFrequency	TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr5:140594606_140594607insA	ENST00000341948.4	+	1	1098_1099	c.911_912insA	c.(910-915)ctaaaafs	p.LK304fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	304	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)			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)			GAAATTGAACTAAAAAAACAAC	0.391																																							0											0																																										SO:0001589	frameshift_variant	0			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.918dupA	5.37:g.140594613_140594613dupA	ENSP00000345491:p.Leu304fs		A8K9V6	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q307fs	ENST00000341948.4	37	c.911_912	CCDS4255.1	5																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.391	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	79	249	0	0.00	0	0	0	NM_018933	0	0		140594607	1	no_errors	ENST00000341948	ensembl	human	known	74_37	frame_shift_ins	59	223	10.61	4.70	7	11	INS	0.092:0.000	A	A	140594607	-	A	140594606	7	5	31	1	0	1	1	0	0	0	0	0	11538	1522	53	0	913	0	PCDHB13	5	140594606	Frame_Shift_Ins	INS	-	TCGA-5U-AB0F-01A-11D-A423-09		140594606	40320654	1	379											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	394	133	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	328	109	9.39	9.17	34	11	SNP	1	A	A	74146970	T	A	74146970	3	1	31	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-5U-AB0F-01A-11D-A423-09		74146970	84991693	2	380											
NTRK2	4915	genome.wustl.edu	37	chr9	87342744	87342744	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatcacacggagtaccaCggctgcctccagctggataa	12	6	9	14	2	1	0	1	0	0	0	2	2	2	2	4	3	3	3	4	3	3	2	rs147059990	byFrequency	TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr9:87342744C>T	ENST00000323115.4	+	8	1382	c.1029C>T	c.(1027-1029)caC>caT	p.H343H	NTRK2_ENST00000277120.3_Silent_p.H343H|NTRK2_ENST00000376214.1_Silent_p.H343H|NTRK2_ENST00000376213.1_Silent_p.H343H|NTRK2_ENST00000395866.2_Silent_p.H187H|NTRK2_ENST00000376208.1_Silent_p.H343H|NTRK2_ENST00000359847.3_Silent_p.H343H|NTRK2_ENST00000395882.1_Silent_p.H343H|NTRK2_ENST00000304053.6_Silent_p.H343H			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	343	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)	CGGAGTACCACGGCTGCCTCC	0.448										TSP Lung(25;0.17)			C|||	2	0.000399361	8e-04	0	5008	,	,		21145	0		0	False		,,,				2504	0.001						0.9996,0.0003994											0								C	,,,,	0,4406		0,0,2203	122	115	118		1029,1029,1029,1029,1029	-6.4	0.8	9	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NTRK2	NM_001007097.1,NM_001018064.1,NM_001018065.2,NM_001018066.2,NM_006180.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	343/478,343/823,343/554,343/538,343/839	87342744	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1029C>T	9.37:g.87342744C>T			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	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.H343	ENST00000323115.4	37	c.1029	CCDS35050.1	9																																																																																			0	pfam_Ig_I-set,prints_Tyr_kin_neurotrophic_rcpt_2		0.448	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	protein_coding	OTTHUMT00000052882.1	61	202	0	0.00	0	0	C		rs147059990	C->T		87342744	1	no_errors	ENST00000277120	ensembl	human	known	74_37	silent	59	157	7.81	4.27	5	7	SNP	0.833	T	T	87342744	C	T	87342744	2	4	31	1	0	0	0	0	0	0	0	1	10707	535	19	1		1	NTRK2	9	87342744	Silent	SNP	C	TCGA-5U-AB0F-01A-11D-A423-09		87342744	53870687	3	381											
OR8B12	219858	genome.wustl.edu	37	chr11	124413131	124413132	+	Frame_Shift_Del	DEL	AC	AC	-																															gcacccaacaaaaggagcaaAcacacctggcaagacatggt																										TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	AC	AC	AC	-	AC	AC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr11:124413131_124413132delAC	ENST00000306842.2	-	1	443_444	c.419_420delGT	c.(418-420)tgtfs	p.C140fs		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	140						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)		AAAGGAGCAAACACACCTGGCA	0.535																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.419_420delGT	11.37:g.124413135_124413136delAC	ENSP00000307159:p.Cys140fs		B2RNF6|Q6IEW8|Q96RC7	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.C140fs	ENST00000306842.2	37	c.420_419	CCDS31711.1	11																																																																																			0	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.535	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	protein_coding	OTTHUMT00000387061.1	43	155	0	0.00	0	0	AC		0	0		124413132	-1	no_errors	ENST00000306842	ensembl	human	known	74_37	frame_shift_del	29	151	14.71	10.12	5	17	DEL	0.006:0.002	0	-	124413132	AC	-	124413131	7	5	31	1	0	1	0	1	0	0	0	0	11226	41	2	0	514	0	OR8B12	11	124413131	Frame_Shift_Del	DEL	AC	TCGA-5U-AB0F-01A-11D-A423-09		124413131	10593385	4	382											
KRT8	3856	genome.wustl.edu	37	chr12	53295733	53295733	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccagagtctccagctGccgcctaaggttgttgatgt	6	11	12	12	1	1	2	0	1	1	1	2	2	1	2	4	2	2	3	4	2	1	3			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr12:53295733G>A	ENST00000552551.1	-	3	880	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	KRT8_ENST00000293308.6_Nonsense_Mutation_p.Q150*|KRT8_ENST00000552150.1_Nonsense_Mutation_p.Q178*|KRT8_ENST00000546897.1_Nonsense_Mutation_p.Q150*			P05787	K2C8_HUMAN	keratin 8	150	Coil 1B.|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)	GTCTCCAGCTGCCGCCTAAGG	0.567																																							0											0													75	79	78					12																	53295733		2203	4297	6500	SO:0001587	stop_gained	0			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.448C>T	12.37:g.53295733G>A	ENSP00000447566:p.Gln150*		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Nonsense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.Q150*	ENST00000552551.1	37	c.448	CCDS8841.1	12	.	.	.	.	.	.	.	.	.	.	G	38	7.134526	0.98085	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150;ENST00000546826;ENST00000548998;ENST00000546900;ENST00000547413	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.7281	0.85428	0.0:0.0:1.0:0.0	.	.	.	.	X	150;150;150;150;178;150;190;33;150	.	ENSP00000293308:Q150X	Q	-	1	0	KRT8	51582000	1.000000	0.71417	0.999000	0.59377	0.525000	0.34531	6.789000	0.75110	2.442000	0.82660	0.455000	0.32223	CAG	0	pfam_IF		0.567	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	protein_coding	OTTHUMT00000406385.1	33	1	0	0.00	0	0	G	NM_002273	0	0		53295733	-1	no_errors	ENST00000293308	ensembl	human	known	74_37	nonsense	24	0	14.29	0.00	4	0	SNP	1	A	A	53295733	G	A	53295733	4	1	31	1	0	0	0	0	0	1	0	0	8493	1328	46	3	1031	3	KRT8	12	53295733	Nonsense_Mutation	SNP	G	TCGA-5U-AB0F-01A-11D-A423-09		53295733	80556162	5	383											
C12orf63	144535	genome.wustl.edu	37	chr12	97078944	97078944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggtttcaaagactacaGtgaggagtttctgtcaagag	11	11	12	7	1	3	3	2	1	1	2	4	4	4	4	1	2	1	2	1	2	3	3			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr12:97078944G>A	ENST00000524981.4	+	42	5965	c.5942G>A	c.(5941-5943)aGt>aAt	p.S1981N				Q96N23	CL055_HUMAN		126																	AAAGACTACAGTGAGGAGTTT	0.483																																							0											0													104	92	96					12																	97078944		2203	4300	6503	SO:0001583	missense	0																														ENST00000524981.4:c.5942G>A	12.37:g.97078944G>A	ENSP00000431759:p.Ser1981Asn			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S1981N	ENST00000524981.4	37	c.5942		12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980702	0.74474	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.69	5.69	0.88448	.	0.067641	0.64402	D	0.000006	T	0.78874	0.4352	M	0.61703	1.905	0.36424	D	0.864464	D	0.89917	1.0	D	0.85130	0.997	T	0.82172	-0.0589	9	0.87932	D	0	-22.7092	20.181	0.98201	0.0:0.0:1.0:0.0	.	406	Q6ZTY8	CL063_HUMAN	N	1981;406	.	ENSP00000345466:S406N	S	+	2	0	C12orf63	95603075	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	6.571000	0.74000	2.840000	0.97914	0.655000	0.94253	AGT	0	NULL		0.483	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	protein_coding	OTTHUMT00000395046.4	93	184	0	0.00	0	0	G		0	0		97078944	1	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	76	183	8.43	13.68	7	29	SNP	1	A	A	97078944	G	A	97078944	3	1	31	1	0	0	0	0	1	0	0	0	1706	1029	36	3	1247	3	C12orf63	12	97078944	Missense_Mutation	SNP	G	TCGA-5U-AB0F-01A-11D-A423-09	43783211	97078944	36772951	6	384											
RAB11A	8766	genome.wustl.edu	37	chr15	66170291	66170291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgaagcaagagcttttgCaggttagtgataggaattcc	13	11	12	5	0	0	4	0	2	0	2	1	5	1	5	1	2	3	4	1	2	5	5			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr15:66170291C>T	ENST00000261890.2	+	3	556	c.428C>T	c.(427-429)gCa>gTa	p.A143V	RAB11A_ENST00000569896.1_Missense_Mutation_p.A143V|RAB11A_ENST00000435304.2_Missense_Mutation_p.A143V|RAB11A_ENST00000565075.1_Missense_Mutation_p.A143V|RAB11A_ENST00000564910.1_Missense_Mutation_p.A73V	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	143					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGAGCTTTTGCAGGTTAGTGA	0.383																																							0											0													187	168	174					15																	66170291		2201	4299	6500	SO:0001583	missense	0			X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"RAB, member RAS oncogene"	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.428C>T	15.37:g.66170291C>T	ENSP00000261890:p.Ala143Val		B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	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.A143V	ENST00000261890.2	37	c.428	CCDS10212.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.547511	0.96488	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	D;D	0.82255	-1.59;-1.59	5.59	5.59	0.84812	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92371	0.7579	M	0.88775	2.98	0.80722	D	1	P;D	0.76494	0.908;0.999	P;D	0.65323	0.517;0.934	D	0.93233	0.6619	10	0.72032	D	0.01	.	19.59	0.95506	0.0:1.0:0.0:0.0	.	143;143	B4DT13;P62491	.;RB11A_HUMAN	V	143	ENSP00000261890:A143V;ENSP00000405767:A143V	ENSP00000261890:A143V	A	+	2	0	RAB11A	63957345	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.639000	0.89480	0.655000	0.94253	GCA	0	pfam_Small_GTPase,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		0.383	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11A	protein_coding	OTTHUMT00000256864.1	57	266	0	0.00	0	0	C		0	0		66170291	1	no_errors	ENST00000261890	ensembl	human	known	74_37	missense	52	250	7.14	6.02	4	16	SNP	1	T	T	66170291	C	T	66170291	3	4	31	1	0	0	0	0	1	0	0	0	12891	710	25	3	438	3	RAB11A	15	66170291	Missense_Mutation	SNP	C	TCGA-5U-AB0F-01A-11D-A423-09		66170291	36361101	7	385											
PTPRM	5797	genome.wustl.edu	37	chr18	7888204	7888204	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacccactgcatcgatttTcactattttgtgtccagcaa	10	13	6	12	1	1	0	1	0	0	0	3	2	2	0	2	0	2	2	2	0	2	5	rs144420909		TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr18:7888204T>G	ENST00000332175.8	+	3	1334	c.297T>G	c.(295-297)ttT>ttG	p.F99L	PTPRM_ENST00000400053.4_Missense_Mutation_p.F37L|PTPRM_ENST00000400060.4_Missense_Mutation_p.F99L|PTPRM_ENST00000580170.1_Missense_Mutation_p.F99L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	99	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)				GCATCGATTTTCACTATTTTG	0.478																																							0											0													120	121	121					18																	7888204		2203	4300	6503	SO:0001583	missense	0			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.297T>G	18.37:g.7888204T>G	ENSP00000331418:p.Phe99Leu		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.F99L	ENST00000332175.8	37	c.297	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	T	28.5	4.921938	0.92319	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.09255	3.0;3.0;3.0	5.83	-0.348	0.12613	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	M	0.88570	2.965	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.74348	0.983;0.983	T	0.30736	-0.9968	10	0.87932	D	0	.	10.9518	0.47334	0.0:0.5077:0.0:0.4923	.	99;99	A7MBN1;P28827	.;PTPRM_HUMAN	L	99;99;37	ENSP00000331418:F99L;ENSP00000382933:F99L;ENSP00000382927:F37L	ENSP00000331418:F99L	F	+	3	2	PTPRM	7878204	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.387000	0.20718	0.145000	0.18977	0.533000	0.62120	TTT	0	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom		0.478	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	protein_coding	OTTHUMT00000254456.1	63	257	0	0.00	0	0	T		0	0		7888204	1	no_errors	ENST00000400060	ensembl	human	known	74_37	missense	49	218	18.03	14.17	11	36	SNP	1	G	G	7888204	T	G	7888204	3	3	31	1	0	0	0	0	1	0	0	0	12806	1780	62	5	307	5	PTPRM	18	7888204	Missense_Mutation	SNP	T	TCGA-5U-AB0F-01A-11D-A423-09		7888204	70189044	8	386											
CLDND2	125875	genome.wustl.edu	37	chr19	51871173	51871173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggcgctcgtggtctggcCccgcagcgactcgccctcgt	4	7	14	16	6	1	0	0	0	1	0	4	2	1	0	3	3	1	2	3	3	1	0			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr19:51871173C>T	ENST00000291715.1	-	2	702	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	ETFB_ENST00000309244.4_5'Flank|CTD-2616J11.11_ENST00000600067.1_Missense_Mutation_p.G28S|CTD-2616J11.10_ENST00000595500.1_RNA|CLDND2_ENST00000601435.1_Missense_Mutation_p.G93S	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	93						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTGGTCTGGCCCCGCAGCGAC	0.721																																							0											0													23	24	24					19																	51871173		2195	4298	6493	SO:0001583	missense	0			BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.277G>A	19.37:g.51871173C>T	ENSP00000291715:p.Gly93Ser			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.G93S	ENST00000291715.1	37	c.277	CCDS12829.1	19	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588521	0.28357	.	.	ENSG00000160318	ENST00000291715	D	0.95588	-3.75	4.69	1.3	0.21679	.	1.100760	0.07086	N	0.837952	D	0.90710	0.7085	L	0.31926	0.97	0.09310	N	1	B	0.17852	0.024	B	0.18561	0.022	T	0.79035	-0.1968	10	0.22109	T	0.4	-3.372	6.7213	0.23332	0.0:0.6793:0.0:0.3207	.	93	Q8NHS1	CLDN2_HUMAN	S	93	ENSP00000291715:G93S	ENSP00000291715:G93S	G	-	1	0	CLDND2	56562985	0.668000	0.27493	0.631000	0.29282	0.252000	0.25951	1.014000	0.29950	0.390000	0.25115	0.561000	0.74099	GGC	0	pfam_PMP22/EMP/MP20/Claudin		0.721	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDND2	protein_coding	OTTHUMT00000464268.1	22	54	0	0.00	0	0	C	NM_152353	0	0		51871173	-1	no_errors	ENST00000291715	ensembl	human	known	74_37	missense	22	46	18.52	13.21	5	7	SNP	0.097	T	T	51871173	C	T	51871173	3	4	31	1	0	0	0	0	1	0	0	0	3494	623	22	3	238	3	CLDND2	19	51871173	Missense_Mutation	SNP	C	TCGA-5U-AB0F-01A-11D-A423-09		51871173	7257810	9	387											
PTPRA	5786	genome.wustl.edu	37	chr20	3016331	3016331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtgagagctacaccgtccGagacctcctggtcaccaaca	11	7	9	14	2	1	2	1	1	0	2	3	4	3	2	5	1	3	1	5	1	2	1			TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr20:3016331G>A	ENST00000216877.6	+	20	2394	c.1994G>A	c.(1993-1995)cGa>cAa	p.R665Q	PTPRA_ENST00000380393.3_Missense_Mutation_p.R674Q|PTPRA_ENST00000358719.4_Missense_Mutation_p.R530Q|PTPRA_ENST00000425918.2_Missense_Mutation_p.R685Q|PTPRA_ENST00000399903.2_Missense_Mutation_p.R674Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.R665Q|PTPRA_ENST00000356147.3_Missense_Mutation_p.R665Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	674	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						TACACCGTCCGAGACCTCCTG	0.547																																							0											0													90	81	84					20																	3016331		2203	4300	6503	SO:0001583	missense	0				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.1994G>A	20.37:g.3016331G>A	ENSP00000216877:p.Arg665Gln		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.R685Q	ENST00000216877.6	37	c.2054	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.672903	0.96754	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.57	5.57	0.84162	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	T	0.59459	0.2195	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.995	T	0.72934	-0.4141	10	0.54805	T	0.06	.	19.5578	0.95358	0.0:0.0:1.0:0.0	.	685;674;665	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	Q	674;665;674;530;284;685;665;665	ENSP00000369756:R674Q;ENSP00000216877:R665Q;ENSP00000382787:R674Q;ENSP00000351559:R530Q;ENSP00000393553:R685Q;ENSP00000314568:R665Q;ENSP00000348468:R665Q	ENSP00000216877:R665Q	R	+	2	0	PTPRA	2964331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.604000	0.88044	0.563000	0.77884	CGA	0	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		0.547	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	protein_coding	OTTHUMT00000077682.3	61	169	0	0.00	0	0	G		0	0		3016331	1	no_errors	ENST00000425918	ensembl	human	known	74_37	missense	35	131	14.63	7.75	6	11	SNP	1	A	A	3016331	G	A	3016331	3	1	31	1	0	0	0	0	1	0	0	0	12795	1058	37	2	2091	2	PTPRA	20	3016331	Missense_Mutation	SNP	G	TCGA-5U-AB0F-01A-11D-A423-09		3016331	60009189	10	388											
SEZ6L	23544	genome.wustl.edu	37	chr22	26693012	26693012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttccggaccttccaggaCgacggccttgggaccttcca	7	9	10	15	3	0	0	0	0	0	0	3	4	3	3	6	4	1	0	6	4	1	5	rs371203903		TCGA-5U-AB0F-01A-11D-A423-09	TCGA-5U-AB0F-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fee7d1c9-9638-47dd-9ad0-55152ed067ec	fce840fd-9475-496b-80bc-0dd2ca38279f	g.chr22:26693012C>T	ENST00000248933.6	+	4	1223	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	SEZ6L_ENST00000402979.1_Silent_p.D149D|SEZ6L_ENST00000403121.1_Silent_p.D149D|SEZ6L_ENST00000343706.4_Silent_p.D376D|SEZ6L_ENST00000529632.2_Silent_p.D376D|SEZ6L_ENST00000404234.3_Silent_p.D376D|SEZ6L_ENST00000360929.3_Silent_p.D376D			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	376	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)		p.D376D(2)		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						CCTTCCAGGACGACGGCCTTG	0.577																																							0											2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)						C	,,,,,	0,4406		0,0,2203	49	43	45		1128,1128,1128,1128,1128,1128	-10.5	0	22		45	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	,,,,,	376/1024,376/1014,376/1012,376/950,376/949,376/1025	26693012	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1128C>T	22.37:g.26693012C>T			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.D376	ENST00000248933.6	37	c.1128	CCDS13833.1	22																																																																																			0	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.577	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	protein_coding	OTTHUMT00000320359.3	52	212	0	0.00	0	0	C		rs371203903	C->T		26693012	1	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	21	173	22.22	4.42	6	8	SNP	0.263	T	T	26693012	C	T	26693012	2	4	31	1	0	0	0	0	0	0	0	1	14143	535	19	1		1	SEZ6L	22	26693012	Silent	SNP	C	TCGA-5U-AB0F-01A-11D-A423-09		26693012	24611554	11	389											
MSH4	4438	genome.wustl.edu	37	chr1	76342640	76342640	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattgctatgaagaactgtaAcacacctttattaagagctt	14	13	7	7	0	0	3	0	1	0	2	0	4	0	3	1	0	4	3	1	0	6	7			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr1:76342640A>G	ENST00000263187.3	+	10	1429	c.1325A>G	c.(1324-1326)aAc>aGc	p.N442S		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	442					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						AAGAACTGTAACACACCTTTA	0.284								Mismatch excision repair (MMR)																															0											0													63	67	66					1																	76342640		2203	4287	6490	SO:0001583	missense	0			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.1325A>G	1.37:g.76342640A>G	ENSP00000263187:p.Asn442Ser		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	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.N442S	ENST00000263187.3	37	c.1325	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	A	1.895	-0.454604	0.04540	.	.	ENSG00000057468	ENST00000263187	D	0.90069	-2.61	5.86	-1.08	0.09936	DNA mismatch repair protein MutS, core (3);	0.715605	0.14110	N	0.340751	T	0.47358	0.1441	N	0.08118	0	0.21416	N	0.999694	B	0.02656	0.0	B	0.04013	0.001	T	0.53005	-0.8499	10	0.05721	T	0.95	-14.053	6.6477	0.22945	0.5764:0.1179:0.3057:0.0	.	442	O15457	MSH4_HUMAN	S	442	ENSP00000263187:N442S	ENSP00000263187:N442S	N	+	2	0	MSH4	76115228	0.730000	0.28100	0.931000	0.37212	0.901000	0.52897	1.252000	0.32874	-0.098000	0.12285	0.528000	0.53228	AAC	0	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core		0.284	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	protein_coding	OTTHUMT00000026983.1	66	171	0	0.00	0	0	A	NM_002440	0	0		76342640	1	no_errors	ENST00000263187	ensembl	human	known	74_37	missense	75	154	25	23.00	25	46	SNP	0.627	G	G	76342640	A	G	76342640	3	3	32	1	0	0	0	0	1	0	0	0	9872	43	2	3	1363	3	MSH4	1	76342640	Missense_Mutation	SNP	A	TCGA-5V-A9RR-01A-11D-A423-09		76342640	172907981	1	390											
PRG4	10216	genome.wustl.edu	37	chr1	186275527	186275527	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagatgaagctggaagtggaTtggacaatggtgacttcaag	13	10	14	4	0	1	3	1	2	0	1	1	6	1	6	0	4	1	1	0	4	5	3			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr1:186275527T>C	ENST00000445192.2	+	7	721	c.676T>C	c.(676-678)Ttg>Ctg	p.L226L	PRG4_ENST00000367484.3_Silent_p.L185L|PRG4_ENST00000367483.4_Silent_p.L185L|PRG4_ENST00000367485.4_Silent_p.L133L|PRG4_ENST00000367486.3_Silent_p.L183L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	226					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						TGGAAGTGGATTGGACAATGG	0.403																																							0											0													211	203	205					1																	186275527		2203	4300	6503	SO:0001819	synonymous_variant	0			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.676T>C	1.37:g.186275527T>C			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.L226	ENST00000445192.2	37	c.676	CCDS1369.1	1																																																																																			0	NULL		0.403	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	59	226	0	0.00	0	0	T	NM_005807	0	0		186275527	1	no_errors	ENST00000445192	ensembl	human	known	74_37	silent	67	209	21.18	27.65	18	81	SNP	0.712	C	C	186275527	T	C	186275527	2	2	32	1	0	0	0	0	0	0	0	1	12481	1490	52	3		3	PRG4	1	186275527	Silent	SNP	T	TCGA-5V-A9RR-01A-11D-A423-09	109932887	186275527	62975094	2	391											
SEL1L3	23231	genome.wustl.edu	37	chr4	25780763	25780763	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgatatagtagagagaacaCcacaaggtcccttccatgtg	13	9	10	9	0	0	3	0	1	0	2	2	4	2	3	3	1	1	1	3	1	5	4			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr4:25780763C>T	ENST00000399878.3	-	16	2642	c.2520G>A	c.(2518-2520)tgG>tgA	p.W840*	SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.W687*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.W805*	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	840						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AGAGAGAACACCACAAGGTCC	0.448																																							0											0													157	145	149					4																	25780763		1968	4143	6111	SO:0001587	stop_gained	0			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.2520G>A	4.37:g.25780763C>T	ENSP00000382767:p.Trp840*		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Nonsense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.W840*	ENST00000399878.3	37	c.2520	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	41	9.069276	0.99055	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000514321	.	.	.	5.22	5.22	0.72569	.	0.552403	0.20856	N	0.084422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-10.668	7.7727	0.29019	0.1629:0.7491:0.0:0.088	.	.	.	.	X	840;805;687;21	.	ENSP00000264868:W805X	W	-	3	0	SEL1L3	25389861	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.540000	0.36115	2.429000	0.82318	0.561000	0.74099	TGG	0	smart_Sel1-like		0.448	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	protein_coding	OTTHUMT00000360261.1	52	209	0	0.00	0	0	C	NM_015187	0	0		25780763	-1	no_errors	ENST00000399878	ensembl	human	known	74_37	nonsense	28	155	37.78	26.54	17	56	SNP	1	T	T	25780763	C	T	25780763	4	4	32	1	0	0	0	0	0	1	0	0	14012	508	18	3	914	3	SEL1L3	4	25780763	Nonsense_Mutation	SNP	C	TCGA-5V-A9RR-01A-11D-A423-09		25780763	165373513	3	392											
UBLCP1	134510	genome.wustl.edu	37	chr5	158697618	158697618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccagggaagggaaaaagCttttggtgctagatgttgat	11	11	13	6	0	0	2	0	1	0	1	1	4	1	4	1	3	2	3	1	3	4	4			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr5:158697618C>G	ENST00000296786.6	+	5	741	c.415C>G	c.(415-417)Ctt>Gtt	p.L139V		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	139	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGAAAAAGCTTTTGGTGCT	0.333																																							0											0													73	74	74					5																	158697618		2203	4299	6502	SO:0001583	missense	0			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.415C>G	5.37:g.158697618C>G	ENSP00000296786:p.Leu139Val		D3DQJ7|Q96DK5	Missense_Mutation	SNP	pfam_NIF,pfam_Ubiquitin_dom,superfamily_HAD-like_dom,smart_Ubiquitin_dom,smart_NIF,pfscan_NIF,pfscan_Ubiquitin_supergroup,tigrfam_HAD-SF_hydro_IIID	p.L139V	ENST00000296786.6	37	c.415	CCDS4345.1	5	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199501	0.58126	.	.	ENSG00000164332	ENST00000296786	T	0.18810	2.19	5.79	5.79	0.91817	HAD-superfamily hydrolase, subfamily IIID (1);NLI interacting factor (3);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	M	0.71871	2.18	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.21586	-1.0241	10	0.45353	T	0.12	-9.8414	14.2234	0.65843	0.0:0.9289:0.0:0.0711	.	139	Q8WVY7	UBCP1_HUMAN	V	139	ENSP00000296786:L139V	ENSP00000296786:L139V	L	+	1	0	UBLCP1	158630196	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.459000	0.60102	2.740000	0.93945	0.563000	0.77884	CTT	0	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_HAD-SF_hydro_IIID		0.333	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBLCP1	protein_coding	OTTHUMT00000252650.2	32	236	0	0.00	0	0	C	NM_145049	0	0		158697618	1	no_errors	ENST00000296786	ensembl	human	known	74_37	missense	64	190	15.79	32.86	12	93	SNP	1	G	G	158697618	C	G	158697618	3	3	32	1	0	0	0	0	1	0	0	0	16888	797	28	5	429	5	UBLCP1	5	158697618	Missense_Mutation	SNP	C	TCGA-5V-A9RR-01A-11D-A423-09		158697618	22217642	4	393											
ZSCAN12	9753	genome.wustl.edu	37	chr6	28358990	28358990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgccacagtcattacaGtgatagtgtttttctcctgt	7	17	8	9	0	2	1	1	1	1	0	3	1	2	1	2	0	2	2	2	0	2	5			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr6:28358990G>A	ENST00000361028.1	-	4	1222	c.1077C>T	c.(1075-1077)caC>caT	p.H359H	ZSCAN12_ENST00000396827.3_Silent_p.H359H			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	359					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						AGTCATTACAGTGATAGTGTT	0.433																																							0											0													101	85	90					6																	28358990		692	1591	2283	SO:0001819	synonymous_variant	0			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.1077C>T	6.37:g.28358990G>A			O43724	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.H359	ENST00000361028.1	37	c.1077		6																																																																																			0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	ZSCAN12	protein_coding	OTTHUMT00000040190.1	133	150	0	0.00	0	0	G	NM_014724	0	0		28358990	-1	no_errors	ENST00000361028	ensembl	human	known	74_37	silent	165	155	13.61	7.19	26	12	SNP	0.895	A	A	28358990	G	A	28358990	2	1	32	1	0	0	0	0	0	0	0	1	18225	1020	36	3		3	ZSCAN12	6	28358990	Silent	SNP	G	TCGA-5V-A9RR-01A-11D-A423-09		28358990	142756077	5	394											
FIG4	9896	genome.wustl.edu	37	chr6	110062669	110062669	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgatctatggacgaccAgtgtatgtcactctaatagc	10	13	9	9	1	3	1	1	1	2	0	3	3	3	2	1	1	1	2	1	1	4	5			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr6:110062669A>G	ENST00000230124.3	+	8	922	c.798A>G	c.(796-798)ccA>ccG	p.P266P	FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	266	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)		ATGGACGACCAGTGTATGTCA	0.378																																							0											0													181	186	184					6																	110062669		2203	4300	6503	SO:0001819	synonymous_variant	0			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.798A>G	6.37:g.110062669A>G			Q53H49|Q5TCS6	Silent	SNP	pfam_Syja_N,pfscan_Syja_N	p.P266	ENST00000230124.3	37	c.798	CCDS5078.1	6																																																																																			0	pfam_Syja_N,pfscan_Syja_N		0.378	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	protein_coding	OTTHUMT00000041768.1	48	223	0	0.00	0	0	A	NM_014845	0	0		110062669	1	no_errors	ENST00000230124	ensembl	human	known	74_37	silent	62	209	7.46	10.30	5	24	SNP	0.869	G	G	110062669	A	G	110062669	2	3	32	1	0	0	0	0	0	0	0	1	5888	175	7	4		4	FIG4	6	110062669	Silent	SNP	A	TCGA-5V-A9RR-01A-11D-A423-09	81703679	110062669	61052398	6	395											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	225	130	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	292	84	25.7	35.38	101	46	SNP	1	A	A	74146970	T	A	74146970	3	1	32	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-5V-A9RR-01A-11D-A423-09		74146970	84991693	7	396											
FSCN3	29999	genome.wustl.edu	37	chr7	127240363	127240363	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacttactcactgtactggcCcccaatggcttctacatgcg	9	11	7	14	1	2	0	1	0	1	0	2	0	2	0	2	2	5	2	2	2	5	4	rs200461532		TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr7:127240363C>G	ENST00000265825.5	+	6	1626	c.1407C>G	c.(1405-1407)gcC>gcG	p.A469A	FSCN3_ENST00000420086.2_Missense_Mutation_p.P334A	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	469						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						CTGTACTGGCCCCCAATGGCT	0.507																																							0											0													85	73	77					7																	127240363		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1407C>G	7.37:g.127240363C>G			A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.P334A	ENST00000265825.5	37	c.1000	CCDS34746.1	7	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584258	0.46110	.	.	ENSG00000106328	ENST00000420086	T	0.47528	0.84	5.74	-5.2	0.02823	.	.	.	.	.	T	0.57257	0.2041	.	.	.	0.21984	N	0.99944	D	0.76494	0.999	D	0.80764	0.994	T	0.54649	-0.8262	7	.	.	.	-10.7533	7.831	0.29342	0.2637:0.3066:0.4297:0.0	.	334	B4DU68	.	A	334	ENSP00000412243:P334A	.	P	+	1	0	FSCN3	127027599	0.036000	0.19791	0.970000	0.41538	0.928000	0.56348	-1.629000	0.02029	-0.785000	0.04522	-0.976000	0.02587	CCC	0	NULL		0.507	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN3	protein_coding	OTTHUMT00000059256.2	63	145	0	0.68	0	1	C	NM_020369	0	0		127240363	1	no_errors	ENST00000420086	ensembl	human	known	74_37	missense	55	122	19.12	28.24	13	48	SNP	0.96	G	G	127240363	C	G	127240363	2	3	32	1	0	0	0	0	0	0	0	1	6069	610	22	5		5	FSCN3	7	127240363	Silent	SNP	C	TCGA-5V-A9RR-01A-11D-A423-09	53093393	127240363	31898300	8	397											
CSMD1	64478	genome.wustl.edu	37	chr8	3855580	3855580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tactctgaagggaagtgcggGctggagatggagctgctggt	8	9	18	6	1	1	2	0	1	1	1	1	5	1	4	0	5	4	3	0	5	3	1			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr8:3855580G>A	ENST00000520002.1	-	5	1218	c.663C>T	c.(661-663)agC>agT	p.S221S	CSMD1_ENST00000537824.1_Silent_p.S221S|CSMD1_ENST00000539096.1_Silent_p.S221S|CSMD1_ENST00000602723.1_Silent_p.S221S|CSMD1_ENST00000400186.3_Silent_p.S221S|CSMD1_ENST00000542608.1_Silent_p.S221S|CSMD1_ENST00000602557.1_Silent_p.S221S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	221	CUB 2. {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)		GGAAGTGCGGGCTGGAGATGG	0.572																																							0											0													41	44	43					8																	3855580		2103	4261	6364	SO:0001819	synonymous_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.663C>T	8.37:g.3855580G>A			Q0H0J5|Q96QU9|Q96RM4	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.S221	ENST00000520002.1	37	c.663		8																																																																																			0	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.572	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	60	153	0	0.00	0	0	G	NM_033225	0	0		3855580	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	silent	47	96	24.19	31.43	15	44	SNP	1	A	A	3855580	G	A	3855580	2	1	32	1	0	0	0	0	0	0	0	1	3944	1194	42	3		3	CSMD1	8	3855580	Silent	SNP	G	TCGA-5V-A9RR-01A-11D-A423-09		3855580	142508442	9	398											
NTRK2	4915	genome.wustl.edu	37	chr9	87285831	87285831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggcatcgtggcatttccGagattggagcctaacagtgt	8	11	12	10	2	0	1	0	0	0	1	2	3	1	2	3	3	2	2	3	3	1	3			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr9:87285831G>A	ENST00000323115.4	+	1	521	c.168G>A	c.(166-168)ccG>ccA	p.P56P	NTRK2_ENST00000376208.1_Silent_p.P56P|NTRK2_ENST00000376213.1_Silent_p.P56P|NTRK2_ENST00000277120.3_Silent_p.P56P|NTRK2_ENST00000304053.6_Silent_p.P56P|NTRK2_ENST00000376214.1_Silent_p.P56P|NTRK2_ENST00000359847.3_Silent_p.P56P|NTRK2_ENST00000395866.2_5'Flank|NTRK2_ENST00000395882.1_Silent_p.P56P			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	56	LRRNT.				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)	TGGCATTTCCGAGATTGGAGC	0.572										TSP Lung(25;0.17)																													0											0													103	85	91					9																	87285831		2203	4300	6503	SO:0001819	synonymous_variant	0			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.168G>A	9.37:g.87285831G>A			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	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.P56	ENST00000323115.4	37	c.168	CCDS35050.1	9																																																																																			0	pfam_LRR-contain_N,smart_LRR-contain_N		0.572	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	protein_coding	OTTHUMT00000052882.1	69	129	0	0.00	0	0	G		0	0		87285831	1	no_errors	ENST00000277120	ensembl	human	known	74_37	silent	57	79	29.63	30.70	24	35	SNP	0.613	A	A	87285831	G	A	87285831	2	1	32	1	0	0	0	0	0	0	0	1	10707	1045	37	2		2	NTRK2	9	87285831	Silent	SNP	G	TCGA-5V-A9RR-01A-11D-A423-09		87285831	53927600	10	399											
COL17A1	1308	genome.wustl.edu	37	chr10	105796368	105796368	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcccatcaagtactgacgTaggtactgacgcacgtcatc	10	8	11	12	3	2	2	2	2	0	0	3	2	2	2	1	2	2	4	1	2	4	3			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr10:105796368T>C	ENST00000353479.5	-	48	3590	c.3300A>G	c.(3298-3300)ctA>ctG	p.L1100L	COL17A1_ENST00000369733.3_Silent_p.L1055L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1100	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)		AGTACTGACGTAGGTACTGAC	0.627																																							0											0													57	45	49					10																	105796368		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3300A>G	10.37:g.105796368T>C			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	pfam_Collagen	p.L1100	ENST00000353479.5	37	c.3300	CCDS7554.1	10																																																																																			0	NULL		0.627	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	protein_coding	OTTHUMT00000050181.1	27	87	0	0.00	0	0	T	NM_130778, NM_000494	0	0		105796368	-1	no_errors	ENST00000353479	ensembl	human	known	74_37	silent	19	61	26.92	26.51	7	22	SNP	0.061	C	C	105796368	T	C	105796368	2	2	32	1	0	0	0	0	0	0	0	1	3674	1625	57	3		3	COL17A1	10	105796368	Silent	SNP	T	TCGA-5V-A9RR-01A-11D-A423-09		105796368	29738379	11	400											
C12orf64	283310	genome.wustl.edu	37	chr12	80752501	80752501	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactcaactgtgcagaagatAtgaatcttgtgaaagaaaat	17	11	8	5	0	2	5	1	2	1	3	2	5	2	5	0	0	3	1	0	0	8	3			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr12:80752501A>G	ENST00000547103.1	+	50	6115	c.6109A>G	c.(6109-6111)Atg>Gtg	p.M2037V	OTOGL_ENST00000458043.2_Missense_Mutation_p.M2049V|OTOGL_ENST00000546620.1_Missense_Mutation_p.M68V			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2037	Cys-rich.				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						TGCAGAAGATATGAATCTTGT	0.308																																							0											0													89	88	88					12																	80752501		2203	4300	6503	SO:0001583	missense	0			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.6109A>G	12.37:g.80752501A>G	ENSP00000447211:p.Met2037Val		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.M2049V	ENST00000547103.1	37	c.6145		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.943042|2.943042	0.53079|0.53079	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182	.|T;T;T;T	.|0.42131	.|2.45;2.45;2.33;0.98	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.116008	.|0.53938	.|D	.|0.000050	T|T	0.38931|0.38931	0.1059|0.1059	M|M	0.66939|0.66939	2.045|2.045	0.24889|0.24889	N|N	0.992172|0.992172	.|B	.|0.26081	.|0.141	.|B	.|0.27500	.|0.08	T|T	0.27365|0.27365	-1.0076|-1.0076	5|10	.|0.16896	.|T	.|0.51	.|.	9.9302|9.9302	0.41517|0.41517	0.9235:0.0:0.0765:0.0|0.9235:0.0:0.0765:0.0	.|.	.|414	.|Q3ZCN5	.|OTOGL_HUMAN	M|V	491|2037;2049;68;66	.|ENSP00000447211:M2037V;ENSP00000400895:M2049V;ENSP00000449094:M68V;ENSP00000449641:M66V	.|ENSP00000400895:M2049V	I|M	+|+	3|1	3|0	OTOGL|OTOGL	79276632|79276632	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.850000|0.850000	0.48378|0.48378	3.141000|3.141000	0.50593|0.50593	2.124000|2.124000	0.65301|0.65301	0.482000|0.482000	0.46254|0.46254	ATA|ATG	0	NULL		0.308	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	protein_coding	OTTHUMT00000407438.1	45	224	0	0.00	0	0	A	NM_173591	0	0		80752501	1	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	48	203	36	25.91	27	71	SNP	1	G	G	80752501	A	G	80752501	3	3	32	1	0	0	0	0	1	0	0	0	1707	449	16	3	6343	3	C12orf64	12	80752501	Missense_Mutation	SNP	A	TCGA-5V-A9RR-01A-11D-A423-09		80752501	53099394	12	401											
LTBP2	4053	genome.wustl.edu	37	chr14	75052588	75052588	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactgtggtgcgggcggcgActgtggtgctggcggctgtg	2	9	21	9	5	0	0	0	0	0	0	0	2	0	0	0	6	2	2	0	6	0	0			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr14:75052588A>C	ENST00000261978.4	-	3	1185	c.799T>G	c.(799-801)Tcg>Gcg	p.S267A	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.S267A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	267					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)		GCGGGCGGCGACTGTGGTGCT	0.662																																							0											0													45	56	52					14																	75052588		2203	4300	6503	SO:0001583	missense	0				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.799T>G	14.37:g.75052588A>C	ENSP00000261978:p.Ser267Ala		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.S267A	ENST00000261978.4	37	c.799	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	A	2.989	-0.208533	0.06140	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.77750	-1.11;-1.12	5.02	1.75	0.24633	.	2.239770	0.02540	N	0.094513	T	0.52677	0.1749	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51108	-0.8747	10	0.08599	T	0.76	.	3.741	0.08530	0.0997:0.121:0.5465:0.2328	.	267	Q14767	LTBP2_HUMAN	A	267	ENSP00000261978:S267A;ENSP00000451477:S267A	ENSP00000261978:S267A	S	-	1	0	LTBP2	74122341	0.970000	0.33590	0.369000	0.25952	0.004000	0.04260	0.822000	0.27352	0.477000	0.27464	-1.247000	0.01520	TCG	0	NULL		0.662	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	protein_coding	OTTHUMT00000413595.1	72	155	0	0.64	0	1	A	NM_000428	0	0		75052588	-1	no_errors	ENST00000261978	ensembl	human	known	74_37	missense	46	85	24.59	17.31	15	18	SNP	0.592	C	C	75052588	A	C	75052588	3	2	32	1	0	0	0	0	1	0	0	0	9074	275	10	5	4802	5	LTBP2	14	75052588	Missense_Mutation	SNP	A	TCGA-5V-A9RR-01A-11D-A423-09		75052588	32296952	13	402											
TSHZ1	10194	genome.wustl.edu	37	chr18	72999958	72999958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacagtttcagagaagtccGatgctgatggcagcagcttt	10	10	11	10	1	1	2	1	1	0	1	2	4	2	2	2	1	3	5	2	1	1	2			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr18:72999958G>A	ENST00000580243.1	+	2	2944	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	TSHZ1_ENST00000322038.5_Missense_Mutation_p.D821N			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	866					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)		AGAGAAGTCCGATGCTGATGG	0.602																																							0											0													64	58	60					18																	72999958		2203	4300	6503	SO:0001583	missense	0			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.2596G>A	18.37:g.72999958G>A	ENSP00000464391:p.Asp866Asn		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.D866N	ENST00000580243.1	37	c.2596		18	.	.	.	.	.	.	.	.	.	.	G	6.624	0.483617	0.12581	.	.	ENSG00000179981	ENST00000322038	T	0.16196	2.36	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	L	0.57536	1.79	0.53688	D	0.99997	D	0.89917	1.0	D	0.83275	0.996	T	0.35674	-0.9779	10	0.87932	D	0	-32.8111	18.5761	0.91155	0.0:0.0:1.0:0.0	.	866	Q6ZSZ6	TSH1_HUMAN	N	821	ENSP00000323584:D821N	ENSP00000323584:D821N	D	+	1	0	TSHZ1	71128946	1.000000	0.71417	0.077000	0.20336	0.050000	0.14768	9.420000	0.97426	1.996000	0.58369	0.459000	0.35465	GAT	0	NULL		0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	protein_coding	OTTHUMT00000444913.1	32	129	0	0.00	0	0	G	NM_005786	0	0		72999958	1	no_errors	ENST00000580243	ensembl	human	known	74_37	missense	20	95	25.93	21.49	7	26	SNP	1	A	A	72999958	G	A	72999958	3	1	32	1	0	0	0	0	1	0	0	0	16620	1058	37	2	2463	2	TSHZ1	18	72999958	Missense_Mutation	SNP	G	TCGA-5V-A9RR-01A-11D-A423-09		72999958	5077290	14	403											
CACNA1A	773	genome.wustl.edu	37	chr19	13340904	13340904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttcttaccaagctgcGgggtcatactcggcccagac	8	9	11	13	2	2	2	1	1	1	1	3	2	2	2	2	3	4	1	2	3	3	3			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chr19:13340904G>A	ENST00000360228.5	-	36	5519	c.5520C>T	c.(5518-5520)ccC>ccT	p.P1840P	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.P1841P	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	1841					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)	ACCAAGCTGCGGGGTCATACT	0.592																																							0											0													59	66	64					19																	13340904		2051	4220	6271	SO:0001819	synonymous_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5520C>T	19.37:g.13340904G>A			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.P1840	ENST00000360228.5	37	c.5520	CCDS45998.1	19																																																																																			0	NULL		0.592	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	32	159	3.03	0.62	1	1	G	NM_000068	0	0		13340904	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	silent	32	136	30.43	26.34	14	49	SNP	0.997	A	A	13340904	G	A	13340904	2	1	32	1	0	0	0	0	0	0	0	1	2538	1103	39	2		2	CACNA1A	19	13340904	Silent	SNP	G	TCGA-5V-A9RR-01A-11D-A423-09		13340904	45788079	15	404											
ATP11C	286410	genome.wustl.edu	37	chrX	138886758	138886758	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacttctactacatcaccaaCctggaattgagaaataaata	17	11	4	9	0	2	1	1	1	1	1	2	3	2	2	2	1	4	0	2	1	9	7			TCGA-5V-A9RR-01A-11D-A423-09	TCGA-5V-A9RR-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a3666d9a-a700-4585-b624-fd77c56d8eed	3fcb2ae1-134f-4863-b07a-9589142ada4b	g.chrX:138886758C>A	ENST00000327569.3	-	6	534	c.436G>T	c.(436-438)Gtt>Ttt	p.V146F	ATP11C_ENST00000361648.2_Splice_Site_p.V146F|ATP11C_ENST00000370557.1_Splice_Site_p.V143F|ATP11C_ENST00000370543.1_Splice_Site_p.V146F|ATP11C_ENST00000359686.2_Splice_Site_p.V146F	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	146					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACATCACCAACCTGGAATTGA	0.348																																							0											0													105	94	98					X																	138886758		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.436-1G>T	X.37:g.138886758C>A			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V146F	ENST00000327569.3	37	c.436	CCDS14668.1	X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060514	0.76074	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03	4.7	4.7	0.59300	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97532	0.9192	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99110	1.0846	10	0.87932	D	0	.	15.7628	0.78101	0.0:1.0:0.0:0.0	.	146;146	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	F	143;146;146;146;146	ENSP00000359588:V143F;ENSP00000355165:V146F;ENSP00000332756:V146F;ENSP00000359574:V146F;ENSP00000352715:V146F	ENSP00000332756:V146F	V	-	1	0	ATP11C	138714424	1.000000	0.71417	0.999000	0.59377	0.691000	0.40173	7.601000	0.82783	2.172000	0.68678	0.422000	0.28245	GTT	0	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase		0.348	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	protein_coding	OTTHUMT00000354945.1	95	92	0	0.00	0	0	C	NM_173694	0	0	Missense_Mutation	138886758	-1	no_errors	ENST00000327569	ensembl	human	known	74_37	missense	169	106	9.63	7.83	18	9	SNP	1	A	A	138886758	C	A	138886758	5	1	32	1	0	0	0	0	0	0	1	0	1121	521	18	5	3125	5	ATP11C	23	138886758	Splice_Site	SNP	C	TCGA-5V-A9RR-01A-11D-A423-09		138886758	16383802	16	405											
FOXD1	2297	genome.wustl.edu	37	chr5	72744018	72744020	+	In_Frame_Del	DEL	CGC	CGC	-																															cgtcctccccggcgtacgagCgccgccgccgccgccgctgc																										TCGA-X7-A8D6-01A-11D-A423-09	TCGA-X7-A8D6-10A-01D-A426-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	31e0b5b8-7ca3-4450-ac6b-1fa018b28caa	fd880a24-57f9-41e2-a7cd-a633e8956139	g.chr5:72744018_72744020delCGC	ENST00000499003.3	-	1	332_334	c.168_170delGCG	c.(166-171)cggcgc>cgc	p.56_57RR>R	RP11-79P5.2_ENST00000514661.1_lincRNA|FOXD1_ENST00000513595.1_5'Flank	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	56	Poly-Arg.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|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)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		GGCGTACGAGcgccgccgccgcc	0.759																																							0											0										21,1817		5,11,903						1.5	1			13	47,4167		8,31,2068	no	coding	FOXD1	NM_004472.2		13,42,2971	A1A1,A1R,RR		1.1153,1.1425,1.1236				68,5984				SO:0001651	inframe_deletion	0			U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"Forkhead boxes"	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.168_170delGCG	5.37:g.72744027_72744029delCGC	ENSP00000462795:p.Arg57del		Q12949	In_Frame_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R57in_frame_del	ENST00000499003.3	37	c.170_168		5																																																																																			0	NULL		0.759	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	FOXD1	protein_coding	OTTHUMT00000369154.2	39	1	2.5	0.00	1	0	CGC	NM_004472	0	0		72744020	-1	no_errors	ENST00000499003	ensembl	human	known	74_37	in_frame_del	10	3	23.08	0.00	3	0	DEL	1.000:1.000:1.000	0	-	72744020	CGC	-	72744018	7	5	33	1	0	1	0	1	0	0	0	0	5996	768	27	0	1229	0	FOXD1	5	72744018	In_Frame_Del	DEL	CGC	TCGA-X7-A8D6-01A-11D-A423-09		72744018	108171242	1	406											
PCDHA9	9752	genome.wustl.edu	37	chr5	140229925	140229925	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgagctgcagccagaaacGgccagcgcgagcatcccgtt	10	5	12	14	5	0	1	0	0	0	1	1	3	1	1	3	1	7	4	3	1	2	2	rs58792000	byFrequency	TCGA-X7-A8D6-01A-11D-A423-09	TCGA-X7-A8D6-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	31e0b5b8-7ca3-4450-ac6b-1fa018b28caa	fd880a24-57f9-41e2-a7cd-a633e8956139	g.chr5:140229925G>T	ENST00000532602.1	+	1	2878	c.1845G>T	c.(1843-1845)acG>acT	p.T615T	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.T615T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	615	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)|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)			AGCCAGAAACGGCCAGCGCGA	0.687																																					Melanoma(55;1800 1972 14909)		0											0													61	66	64					5																	140229925		2196	4270	6466	SO:0001819	synonymous_variant	0			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.1845G>T	5.37:g.140229925G>T			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T615	ENST00000532602.1	37	c.1845	CCDS54920.1	5																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.687	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	protein_coding	OTTHUMT00000372896.2	40	2	0	0.00	0	0	G	NM_031857	0	0		140229925	1	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	25	1	13.79	0.00	4	0	SNP	0.003	T	T	140229925	G	T	140229925	2	4	33	1	0	0	0	0	0	0	0	1	11531	1103	39	5		5	PCDHA9	5	140229925	Silent	SNP	G	TCGA-X7-A8D6-01A-11D-A423-09	67485907	140229925	40685335	2	407											
CDK6	1021	genome.wustl.edu	37	chr7	92462451	92462451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaggtgcctcagcaccgCcacctcgcggatggtggaga	7	6	13	15	3	1	1	1	0	0	1	3	3	2	2	5	4	2	1	5	4	0	0			TCGA-X7-A8D6-01A-11D-A423-09	TCGA-X7-A8D6-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	31e0b5b8-7ca3-4450-ac6b-1fa018b28caa	fd880a24-57f9-41e2-a7cd-a633e8956139	g.chr7:92462451C>T	ENST00000265734.4	-	2	598	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Missense_Mutation_p.A63T	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTCAGCACCGCCACCTCGCGG	0.711			T	MLLT10	ALL																																		0		Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0													25	24	24					7																	92462451		2201	4297	6498	SO:0001583	missense	0				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"Cyclin-dependent kinases"	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.187G>A	7.37:g.92462451C>T	ENSP00000265734:p.Ala63Thr		A4D1G0	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.A63T	ENST00000265734.4	37	c.187	CCDS5628.1	7	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662720	0.88251	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.66099	-0.19;-0.19	5.96	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046039	0.85682	D	0.000000	T	0.45397	0.1340	N	0.12746	0.255	0.80722	D	1	P	0.43392	0.805	B	0.39617	0.305	T	0.54476	-0.8288	10	0.66056	D	0.02	-0.1705	14.6018	0.68445	0.0:0.9306:0.0:0.0694	.	63	Q00534	CDK6_HUMAN	T	63	ENSP00000265734:A63T;ENSP00000397087:A63T	ENSP00000265734:A63T	A	-	1	0	CDK6	92300387	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.004000	0.70709	2.833000	0.97629	0.650000	0.86243	GCG	0	pfam_Prot_kinase_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		0.711	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK6	protein_coding	OTTHUMT00000254605.2	44	20	0	0.00	0	0	C		0	0		92462451	-1	no_errors	ENST00000265734	ensembl	human	known	74_37	missense	32	9	11.11	0.00	4	0	SNP	1	T	T	92462451	C	T	92462451	3	4	33	1	0	0	0	0	1	0	0	0	3148	739	26	3	821	3	CDK6	7	92462451	Missense_Mutation	SNP	C	TCGA-X7-A8D6-01A-11D-A423-09		92462451	66676212	3	408											
SEH1L	81929	genome.wustl.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-																															tccagttatgcccagctcctTcctcctcctcctcctcctct																										TCGA-X7-A8D6-01A-11D-A423-09	TCGA-X7-A8D6-10A-01D-A426-09	TCC	TCC	TCC	-	TCC	TCC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31e0b5b8-7ca3-4450-ac6b-1fa018b28caa	fd880a24-57f9-41e2-a7cd-a633e8956139	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											0																																										SO:0001624	3_prime_UTR_variant	0			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			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																																																																																			0	NULL		0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEH1L	protein_coding	OTTHUMT00000458254.1	38	68	0	1.45	0	1	TCC	NM_031216	0	0		12986929	1	no_errors	ENST00000399892	ensembl	human	known	74_37	in_frame_del	31	64	8.82	4.48	3	3	DEL	0.997:1.000:1.000	0	-	12986929	TCC	-	12986927	6	5	33	0	1	1	0	1	0	0	0	0	14009	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-X7-A8D6-01A-11D-A423-09		12986927	65090321	4	409											
PRSS3	5646	genome.wustl.edu	37	chr9	33796693	33796693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgggggctacacctgtgaGgagaattctctcccctacca	8	10	11	12	0	1	2	0	1	1	1	3	3	2	2	4	3	2	2	4	3	3	4	rs143332708|rs3831310	byFrequency	TCGA-X7-A8D7-01A-11D-A423-09	TCGA-X7-A8D7-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	36e9529f-a133-4e58-8384-5c385c9b7be3	37ea3163-3045-448c-8d68-513404024b76	g.chr9:33796693G>T	ENST00000361005.5	+	2	264	c.264G>T	c.(262-264)gaG>gaT	p.E88D	PRSS3_ENST00000342836.4_Missense_Mutation_p.E45D|PRSS3_ENST00000379405.3_Missense_Mutation_p.E31D|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.E24D	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	88	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			ACACCTGTGAGGAGAATTCTC	0.537																																							0											0													159	139	146					9																	33796693		2203	4300	6503	SO:0001583	missense	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.264G>T	9.37:g.33796693G>T	ENSP00000354280:p.Glu88Asp		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.E88D	ENST00000361005.5	37	c.264	CCDS47958.1	9	.	.	.	.	.	.	.	.	.	.	g	0.137	-1.106804	0.01813	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	3.13	1.09	0.20402	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.435740	0.04229	N	0.334852	T	0.78622	0.4312	N	0.13272	0.32	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	0.62397	-0.6863	10	0.22109	T	0.4	.	5.3518	0.16040	0.1258:0.4018:0.4724:0.0	.	31;88;45	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	D	88;43;45;24;31	ENSP00000354280:E88D;ENSP00000401249:E43D;ENSP00000340889:E45D;ENSP00000401828:E24D;ENSP00000368715:E31D	ENSP00000340889:E45D	E	+	3	2	PRSS3	33786693	0.000000	0.05858	0.019000	0.16419	0.082000	0.17680	-0.308000	0.08156	0.009000	0.14813	0.186000	0.17326	GAG	0	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.537	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	protein_coding	OTTHUMT00000052121.1	17	32	5.56	0.00	1	0	G	NM_002771	0	0		33796693	1	no_errors	ENST00000361005	ensembl	human	known	74_37	missense	45	21	9.8	8.70	5	2	SNP	0.021	T	T	33796693	G	T	33796693	3	4	34	1	0	0	0	0	1	0	0	0	12622	991	35	5	314	5	PRSS3	9	33796693	Missense_Mutation	SNP	G	TCGA-X7-A8D7-01A-11D-A423-09		33796693	107416738	1	410											
TNRC6A	27327	genome.wustl.edu	37	chr16	24788444	24788444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccacagccgcagccgcaGcagcagcagccacagcagca	12	0	11	18	2	0	0	0	0	0	0	0	0	0	0	4	0	9	7	4	0	0	0			TCGA-X7-A8D7-01A-11D-A423-09	TCGA-X7-A8D7-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	36e9529f-a133-4e58-8384-5c385c9b7be3	37ea3163-3045-448c-8d68-513404024b76	g.chr16:24788444G>A	ENST00000395799.3	+	5	483	c.354G>A	c.(352-354)caG>caA	p.Q118Q	TNRC6A_ENST00000315183.7_Silent_p.Q118Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	118	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)	p.Q118H(1)		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)		cgcagccgcagcagcagcagc	0.612																																							0											1	Substitution - Missense(1)	lung(1)											25	34	31					16																	24788444		2166	4266	6432	SO:0001819	synonymous_variant	0			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.354G>A	16.37:g.24788444G>A			C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.Q118	ENST00000395799.3	37	c.354	CCDS10624.2	16																																																																																			0	NULL		0.612	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	protein_coding	OTTHUMT00000214081.1	38	19	0	0.00	0	0	G	NM_020847	0	0		24788444	1	no_errors	ENST00000395799	ensembl	human	known	74_37	silent	79	11	9.2	21.43	8	3	SNP	0.034	A	A	24788444	G	A	24788444	2	1	34	1	0	0	0	0	0	0	0	1	16337	962	34	3		3	TNRC6A	16	24788444	Silent	SNP	G	TCGA-X7-A8D7-01A-11D-A423-09		24788444	65566309	2	411											
MN1	4330	genome.wustl.edu	37	chr22	28194936	28194936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgctgctg	0	15	14	12	0	0	0	0	0	0	0	0	0	0	0	0	0	12	13	0	0	0	1	rs45597040	byFrequency	TCGA-X7-A8D7-01A-11D-A423-09	TCGA-X7-A8D7-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	36e9529f-a133-4e58-8384-5c385c9b7be3	37ea3163-3045-448c-8d68-513404024b76	g.chr22:28194936C>T	ENST00000302326.4	-	1	2550	c.1596G>A	c.(1594-1596)caG>caA	p.Q532Q		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						gctgctgttgctgctgctgct	0.652			T	ETV6	"AML, meningioma"																																		0		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	1	Substitution - coding silent(1)	prostate(1)											4	5	5					22																	28194936		1795	3654	5449	SO:0001819	synonymous_variant	0			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.1596G>A	22.37:g.28194936C>T			A9Z1V9	Silent	SNP	NULL	p.Q532	ENST00000302326.4	37	c.1596	CCDS42998.1	22																																																																																			0	NULL		0.652	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	protein_coding	OTTHUMT00000320737.1	32	11	0	0.00	0	0	C	NM_002430	rs45597040	C->T		28194936	-1	no_errors	ENST00000302326	ensembl	human	known	74_37	silent	54	5	8.47	0.00	5	0	SNP	0.998	T	T	28194936	C	T	28194936	2	4	34	1	0	0	0	0	0	0	0	1	9673	796	28	3		3	MN1	22	28194936	Silent	SNP	C	TCGA-X7-A8D7-01A-11D-A423-09		28194936	23109630	3	412											
MKNK1	8569	genome.wustl.edu	37	chr1	47028358	47028358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgccccggtcccagccaCagtcggccccgcagtgaccc	5	4	10	22	4	0	1	0	1	0	0	3	1	1	1	8	2	1	1	8	2	0	0			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr1:47028358C>T	ENST00000371946.4	-	11	1089	c.926G>A	c.(925-927)tGt>tAt	p.C309Y	MKNK1_ENST00000428112.2_Missense_Mutation_p.C268Y|MKNK1_ENST00000371945.4_Missense_Mutation_p.C268Y|MKNK1_ENST00000341183.5_Missense_Mutation_p.C268Y|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.C173Y	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	309	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)					GTCCCAGCCACAGTCGGCCCC	0.652																																							0											0													27	24	25					1																	47028358		2199	4282	6481	SO:0001583	missense	0			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.926G>A	1.37:g.47028358C>T	ENSP00000361014:p.Cys309Tyr		D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	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.C309Y	ENST00000371946.4	37	c.926	CCDS538.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.886926|4.886926	0.91814|0.91814	.|.	.|.	ENSG00000079277|ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000371944;ENST00000341183;ENST00000428112|ENST00000524749	T;T;T;T;T|.	0.19105|.	2.17;2.17;2.17;2.17;2.17|.	5.42|5.42	5.42|5.42	0.78866|0.78866	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	0.67505|0.67505	0.2900|0.2900	L|L	0.42245|0.42245	1.32|1.32	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|.	0.87578|.	0.998;0.998;0.997;0.994;0.996;0.997|.	T|T	0.62053|0.62053	-0.6935|-0.6935	10|5	0.87932|.	D|.	0|.	.|.	18.3905|18.3905	0.90481|0.90481	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	173;173;268;268;268;309|.	B4DQK5;Q7Z319;A8K341;Q9BUB5-3;Q9BUB5-2;Q9BUB5|.	.;.;.;.;.;MKNK1_HUMAN|.	Y|M	309;268;173;268;268|61	ENSP00000361014:C309Y;ENSP00000361013:C268Y;ENSP00000361012:C173Y;ENSP00000339573:C268Y;ENSP00000411135:C268Y|.	ENSP00000339573:C268Y|.	C|V	-|-	2|1	0|0	MKNK1|MKNK1	46800945|46800945	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	7.651000|7.651000	0.83577|0.83577	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	TGT|GTG	0	pfam_Prot_kinase_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	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	protein_coding	OTTHUMT00000021897.2	36	12	0	0.00	0	0	C	NM_003684	0	0		47028358	-1	no_errors	ENST00000371946	ensembl	human	known	74_37	missense	63	8	7.35	0.00	5	0	SNP	1	T	T	47028358	C	T	47028358	3	4	35	1	0	0	0	0	1	0	0	0	9604	478	17	3	487	3	MKNK1	1	47028358	Missense_Mutation	SNP	C	TCGA-X7-A8D8-01A-11D-A423-09		47028358	202222263	1	413											
LRP1B	53353	genome.wustl.edu	37	chr2	141751564	141751564	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttggaagagaacatacAgcagtttactgaatcctcat	14	11	8	8	0	1	3	1	2	0	1	2	5	2	4	1	1	4	2	1	1	5	4			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr2:141751564A>T	ENST00000389484.3	-	16	3615	c.2644T>A	c.(2644-2646)Ttc>Atc	p.F882I	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	882	LDL-receptor class A 3. {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)		GAGAACATACAGCAGTTTACT	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)		0											0													108	104	106					2																	141751564		2203	4300	6503	SO:0001630	splice_region_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2644+1T>A	2.37:g.141751564A>T			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.F882I	ENST00000389484.3	37	c.2644	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	12.52	1.963994	0.34659	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90844	-2.74	5.8	5.8	0.92144	.	0.224065	0.39020	U	0.001482	D	0.85031	0.5604	L	0.40543	1.245	0.46396	D	0.999028	B	0.17038	0.02	B	0.14023	0.01	T	0.79410	-0.1815	9	.	.	.	.	10.4879	0.44733	0.9278:0.0:0.0722:0.0	.	882	Q9NZR2	LRP1B_HUMAN	I	882;820	ENSP00000374135:F882I	.	F	-	1	0	LRP1B	141468034	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.004000	0.49513	2.203000	0.70933	0.460000	0.39030	TTC	0	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	54	264	0	0.00	0	0	A	NM_018557	0	0	Missense_Mutation	141751564	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	36	161	33.33	30.90	18	72	SNP	1	T	T	141751564	A	T	141751564	5	4	35	1	0	0	0	0	0	0	1	0	8955	202	7	5	11459	5	LRP1B	2	141751564	Splice_Site	SNP	A	TCGA-X7-A8D8-01A-11D-A423-09		141751564	101447809	2	414											
AGAP1	116987	genome.wustl.edu	37	chr2	236617824	236617824	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctcctctttttcagaTgccttcgtgaacagccagga	7	13	9	12	1	2	2	1	1	1	1	5	3	4	3	4	1	3	0	4	1	1	3			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr2:236617824T>A	ENST00000304032.8	+	2	745	c.165T>A	c.(163-165)gaT>gaA	p.D55E	AGAP1_ENST00000336665.5_Splice_Site_p.D55E|AGAP1_ENST00000409457.1_Splice_Site_p.D55E|AGAP1_ENST00000409538.1_Splice_Site_p.D320E	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	55					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						CTTTTTCAGATGCCTTCGTGA	0.532																																							0											0													209	188	195					2																	236617824		2203	4300	6503	SO:0001630	splice_region_variant	0			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.164-1T>A	2.37:g.236617824T>A			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.D55E	ENST00000304032.8	37	c.165	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	t	12.78	2.041667	0.35989	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	D;T;T;D;T	0.90133	-2.07;-0.55;-0.54;-2.62;-0.64	3.88	2.72	0.32119	.	0.071163	0.53938	U	0.000059	D	0.92642	0.7662	M	0.61703	1.905	0.80722	D	1	D;P	0.76494	0.999;0.841	D;P	0.74023	0.982;0.785	D	0.89875	0.4026	10	0.33141	T	0.24	.	9.2437	0.37511	0.0:0.0871:0.0:0.9129	.	55;55	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	E	55;55;55;2;320	ENSP00000387174:D55E;ENSP00000307634:D55E;ENSP00000338378:D55E;ENSP00000385492:D2E;ENSP00000386897:D320E	ENSP00000307634:D55E	D	+	3	2	AGAP1	236282563	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.390000	0.34464	0.676000	0.31285	-0.383000	0.06682	GAT	0	NULL		0.532	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	protein_coding	OTTHUMT00000257076.2	110	221	0	0.00	0	0	T	NM_014914	0	0	Missense_Mutation	236617824	1	no_errors	ENST00000304032	ensembl	human	known	74_37	missense	84	171	10.64	4.44	10	8	SNP	1	A	A	236617824	T	A	236617824	5	1	35	1	0	0	0	0	0	0	1	0	366	1478	51	5	171	5	AGAP1	2	236617824	Splice_Site	SNP	T	TCGA-X7-A8D8-01A-11D-A423-09	94866260	236617824	6581549	3	415											
CSRNP1	64651	genome.wustl.edu	37	chr3	39186572	39186572	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggcttgctcctgcgcaaaCtcagccaaagagaagcgacg	11	5	12	13	4	1	1	1	0	0	1	2	3	2	1	2	1	5	3	2	1	3	1			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr3:39186572C>G	ENST00000273153.5	-	3	558	c.381G>C	c.(379-381)gaG>gaC	p.E127D	CSRNP1_ENST00000514182.1_Missense_Mutation_p.E127D	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	127					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						CCTGCGCAAACTCAGCCAAAG	0.612																																							0											0													71	62	65					3																	39186572		2203	4300	6503	SO:0001583	missense	0			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.381G>C	3.37:g.39186572C>G	ENSP00000273153:p.Glu127Asp		Q69YY5	Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.E127D	ENST00000273153.5	37	c.381	CCDS2682.1	3	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729746	0.69074	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.17528	2.27;2.27	5.14	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.41088	-0.9528	10	0.72032	D	0.01	-26.2996	13.8913	0.63740	0.0:0.9261:0.0:0.0739	.	127	Q96S65	CSRN1_HUMAN	D	127	ENSP00000273153:E127D;ENSP00000422532:E127D	ENSP00000273153:E127D	E	-	3	2	CSRNP1	39161576	1.000000	0.71417	0.979000	0.43373	0.287000	0.27160	2.647000	0.46639	1.311000	0.45024	0.561000	0.74099	GAG	0	NULL		0.612	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP1	protein_coding	OTTHUMT00000254061.1	40	43	0	0.00	0	0	C	NM_033027	0	0		39186572	-1	no_errors	ENST00000273153	ensembl	human	known	74_37	missense	19	29	45.71	17.14	16	6	SNP	1	G	G	39186572	C	G	39186572	3	3	35	1	0	0	0	0	1	0	0	0	3963	564	20	5	1400	5	CSRNP1	3	39186572	Missense_Mutation	SNP	C	TCGA-X7-A8D8-01A-11D-A423-09		39186572	158835858	4	416											
STAG1	10274	genome.wustl.edu	37	chr3	136068118	136068118	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacccccagtgactaaTgaatttctataggagatgag	12	12	8	9	0	3	4	1	3	2	1	3	5	3	4	2	1	0	0	2	1	4	5			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr3:136068118T>C	ENST00000383202.2	-	29	3409	c.3153A>G	c.(3151-3153)tcA>tcG	p.S1051S	STAG1_ENST00000536929.1_Silent_p.S635S|STAG1_ENST00000236698.5_Silent_p.S1051S|STAG1_ENST00000434713.2_Silent_p.S791S	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1051					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						CAGTGACTAATGAATTTCTAT	0.428																																							0											0													123	113	117					3																	136068118		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3153A>G	3.37:g.136068118T>C			O00539|Q6P275	Silent	SNP	pfam_STAG,superfamily_ARM-type_fold	p.S1051	ENST00000383202.2	37	c.3153	CCDS3090.1	3																																																																																			0	NULL		0.428	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	protein_coding	OTTHUMT00000357366.1	64	264	0	0.38	0	1	T	NM_005862	0	0		136068118	-1	no_errors	ENST00000383202	ensembl	human	known	74_37	silent	51	191	37.04	24.71	30	63	SNP	0.112	C	C	136068118	T	C	136068118	2	2	35	1	0	0	0	0	0	0	0	1	15241	1451	51	3		3	STAG1	3	136068118	Silent	SNP	T	TCGA-X7-A8D8-01A-11D-A423-09	96881546	136068118	61954312	5	417											
TAS2R1	50834	genome.wustl.edu	37	chr5	9630072	9630072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaccaccacaatgatgcCatttgtgaaaatcccaagaa	16	9	5	11	0	1	3	1	2	0	1	2	3	2	3	4	0	1	0	4	0	5	2			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr5:9630072C>A	ENST00000382492.2	-	1	391	c.73G>T	c.(73-75)Ggc>Tgc	p.G25C	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	25					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ACAATGATGCCATTTGTGAAA	0.353																																							0											0													54	58	57					5																	9630072		2196	4299	6495	SO:0001583	missense	0			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.73G>T	5.37:g.9630072C>A	ENSP00000371932:p.Gly25Cys		Q646G8	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.G25C	ENST00000382492.2	37	c.73	CCDS3876.1	5	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674523	0.29693	.	.	ENSG00000169777	ENST00000382492	T	0.38560	1.13	5.32	2.45	0.29901	.	0.347345	0.24848	N	0.035105	T	0.58708	0.2141	M	0.78049	2.395	0.37771	D	0.92666	D	0.89917	1.0	D	0.97110	1.0	T	0.59139	-0.7510	9	.	.	.	.	5.706	0.17909	0.154:0.667:0.0:0.179	.	25	Q9NYW7	TA2R1_HUMAN	C	25	ENSP00000371932:G25C	.	G	-	1	0	TAS2R1	9683072	0.785000	0.28726	0.041000	0.18516	0.037000	0.13140	1.136000	0.31467	0.327000	0.23409	-0.345000	0.07892	GGC	0	pfam_TAS2_rcpt		0.353	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R1	protein_coding	OTTHUMT00000206988.2	49	251	0	0.00	0	0	C		0	0		9630072	-1	no_errors	ENST00000382492	ensembl	human	known	74_37	missense	43	162	24.56	24.42	14	53	SNP	0.883	A	A	9630072	C	A	9630072	3	1	35	1	0	0	0	0	1	0	0	0	15562	594	21	5	830	5	TAS2R1	5	9630072	Missense_Mutation	SNP	C	TCGA-X7-A8D8-01A-11D-A423-09		9630072	171285188	6	418											
RNF180	285671	genome.wustl.edu	37	chr5	63510131	63510131	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattctgaccatactaatacTaacaatctgactttcctgat	13	15	3	10	0	2	3	0	3	2	0	3	3	3	3	2	0	3	0	2	0	6	7			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr5:63510131T>C	ENST00000389100.4	+	4	1050	c.978T>C	c.(976-978)acT>acC	p.T326T	RNF180_ENST00000296615.6_Silent_p.T326T|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	326	Interaction with ZIC2. {ECO:0000250}.				adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ATACTAATACTAACAATCTGA	0.517																																							0											0													69	72	71					5																	63510131		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"RING-type (C3HC4) zinc fingers"	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.978T>C	5.37:g.63510131T>C			Q0JSU3|Q495A8|Q8NBD1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T326	ENST00000389100.4	37	c.978	CCDS47219.1	5																																																																																			0	NULL		0.517	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF180	protein_coding	OTTHUMT00000368394.1	52	189	0	0.00	0	0	T	NM_178532	0	0		63510131	1	no_errors	ENST00000389100	ensembl	human	known	74_37	silent	42	202	10.64	7.76	5	17	SNP	0.003	C	C	63510131	T	C	63510131	2	2	35	1	0	0	0	0	0	0	0	1	13464	1509	53	4		4	RNF180	5	63510131	Silent	SNP	T	TCGA-X7-A8D8-01A-11D-A423-09	53880059	63510131	117405129	7	419											
REV3L	5980	genome.wustl.edu	37	chr6	111710309	111710309	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcactattaggtttatacCttgtgactcaggttggctca	9	14	10	8	0	2	1	2	1	0	0	2	2	2	1	1	3	2	4	1	3	4	7			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr6:111710309C>T	ENST00000358835.3	-	8	1316	c.862G>A	c.(862-864)Gat>Aat	p.D288N	REV3L_ENST00000368802.3_Splice_Site_p.D288N|REV3L_ENST00000435970.1_Splice_Site_p.D210N|REV3L_ENST00000368805.1_Splice_Site_p.D288N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	288					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)		AGGTTTATACCTTGTGACTCA	0.353								DNA polymerases (catalytic subunits)																															0											0													191	166	174					6																	111710309		2203	4300	6503	SO:0001630	splice_region_variant	0			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.862+1G>A	6.37:g.111710309C>T			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.D288N	ENST00000358835.3	37	c.862	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	35	5.428957	0.96131	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.48	5.48	0.80851	Ribonuclease H-like (1);	0.245896	0.34750	N	0.003703	T	0.54224	0.1845	L	0.54323	1.7	0.51012	D	0.999909	D	0.89917	1.0	D	0.80764	0.994	T	0.45279	-0.9272	9	.	.	.	.	19.7082	0.96082	0.0:1.0:0.0:0.0	.	288	O60673	DPOLZ_HUMAN	N	288;288;288;210	ENSP00000357792:D288N;ENSP00000357795:D288N;ENSP00000351697:D288N;ENSP00000402003:D210N	.	D	-	1	0	REV3L	111817002	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.207000	0.65197	2.718000	0.92993	0.655000	0.94253	GAT	0	superfamily_RNaseH-like_dom		0.353	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	protein_coding	OTTHUMT00000043695.1	61	333	0	0.00	0	0	C	NM_002912	0	0	Missense_Mutation	111710309	-1	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	52	247	17.46	28.94	11	101	SNP	1	T	T	111710309	C	T	111710309	5	4	35	1	0	0	0	0	0	0	1	0	13240	695	24	3	8634	3	REV3L	6	111710309	Splice_Site	SNP	C	TCGA-X7-A8D8-01A-11D-A423-09		111710309	59404758	8	420											
L3MBTL3	84456	genome.wustl.edu	37	chr6	130374131	130374131	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagaagagagagatgatGaaatggtgagtgcctctgcc	13	8	15	5	0	1	6	0	3	1	3	1	9	1	6	2	2	2	0	2	2	2	0			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr6:130374131G>T	ENST00000529410.1	+	9	1056	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	L3MBTL3_ENST00000533560.1_Nonsense_Mutation_p.E168*|L3MBTL3_ENST00000361794.2_Nonsense_Mutation_p.E193*|L3MBTL3_ENST00000368136.2_Nonsense_Mutation_p.E193*|L3MBTL3_ENST00000526019.1_Nonsense_Mutation_p.E168*|L3MBTL3_ENST00000368139.2_Nonsense_Mutation_p.E168*			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	193					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)		GAGAGATGATGAAATGGTGAG	0.468																																							0											0													75	63	67					6																	130374131		2203	4300	6503	SO:0001587	stop_gained	0			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.577G>T	6.37:g.130374131G>T	ENSP00000431962:p.Glu193*		Q4VXE1|Q5VUM9|Q6P9B5	Nonsense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.E193*	ENST00000529410.1	37	c.577	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155727	0.78114	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	.	.	.	5.0	5.0	0.66597	.	1.129670	0.06539	N	0.742821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	16.4241	0.83808	0.0:0.0:1.0:0.0	.	.	.	.	X	193;168;193;168;168;193	.	ENSP00000354526:E193X	E	+	1	0	L3MBTL3	130415824	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	6.148000	0.71788	2.488000	0.83962	0.462000	0.41574	GAA	0	NULL		0.468	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	protein_coding	OTTHUMT00000042195.2	23	125	0	0.00	0	0	G	XM_027074	0	0		130374131	1	no_errors	ENST00000361794	ensembl	human	known	74_37	nonsense	44	106	10.2	5.36	5	6	SNP	1	T	T	130374131	G	T	130374131	4	4	35	1	0	0	0	0	0	1	0	0	8593	1291	45	5	595	5	L3MBTL3	6	130374131	Nonsense_Mutation	SNP	G	TCGA-X7-A8D8-01A-11D-A423-09	18663822	130374131	40740936	9	421											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	300	149	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	281	75	28.68	35.59	113	42	SNP	1	A	A	74146970	T	A	74146970	3	1	35	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-X7-A8D8-01A-11D-A423-09		74146970	84991693	10	422											
CSMD1	64478	genome.wustl.edu	37	chr8	2832146	2832146	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtgtccacacgatataGcttcagaaaaaagataaaac	17	8	8	8	1	1	2	1	0	0	2	2	3	2	2	1	1	2	1	1	1	7	4			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr8:2832146G>A	ENST00000520002.1	-	57	9125	c.8570C>T	c.(8569-8571)gCt>gTt	p.A2857V	CSMD1_ENST00000400186.3_Splice_Site_p.A2799V|CSMD1_ENST00000542608.1_Splice_Site_p.A2798V|CSMD1_ENST00000602557.1_Splice_Site_p.A2857V|CSMD1_ENST00000537824.1_Splice_Site_p.A2856V|CSMD1_ENST00000602723.1_Splice_Site_p.A2799V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2857	Sushi 20. {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)		ACACGATATAGCTTCAGAAAA	0.478																																							0											0													28	30	29					8																	2832146		1916	4115	6031	SO:0001630	splice_region_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8570-1C>T	8.37:g.2832146G>A			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.A2857V	ENST00000520002.1	37	c.8570		8	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.624371	0.00820	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.81	0.559	0.17272	Complement control module (2);Sushi/SCR/CCP (1);	0.399644	0.25256	N	0.031991	T	0.17450	0.0419	L	0.41632	1.29	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.15052	0.003;0.004;0.012	T	0.15009	-1.0452	10	0.14252	T	0.57	.	10.1733	0.42924	0.3541:0.0:0.6459:0.0	.	2857;2857;2798	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	V	2799;2857;2718;2856;2798	ENSP00000383047:A2799V;ENSP00000430733:A2857V;ENSP00000441462:A2856V;ENSP00000446243:A2798V	ENSP00000320445:A2718V	A	-	2	0	CSMD1	2819553	0.856000	0.29760	0.009000	0.14445	0.036000	0.12997	1.241000	0.32743	-0.191000	0.10448	-0.136000	0.14681	GCT	0	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	51	225	0	0.00	0	0	G	NM_033225	0	0	Missense_Mutation	2832146	-1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	39	213	13.33	7.39	6	17	SNP	0.142	A	A	2832146	G	A	2832146	5	1	35	1	0	0	0	0	0	0	1	0	3944	985	34	3	2187	3	CSMD1	8	2832146	Splice_Site	SNP	G	TCGA-X7-A8D8-01A-11D-A423-09		2832146	143531876	11	423											
PTCH1	5727	genome.wustl.edu	37	chr9	98241284	98241284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attcgaaggtgggtttacctCcacatatgtcctctgccagg	8	12	10	11	1	1	0	0	0	1	0	4	1	3	0	4	3	2	1	4	3	3	4			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr9:98241284C>T	ENST00000331920.6	-	8	1512	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000375274.2_Missense_Mutation_p.E404K|PTCH1_ENST00000429896.2_Missense_Mutation_p.E254K|PTCH1_ENST00000418258.1_Missense_Mutation_p.E254K|PTCH1_ENST00000421141.1_Missense_Mutation_p.E254K|PTCH1_ENST00000430669.2_Missense_Mutation_p.E339K|PTCH1_ENST00000437951.1_Missense_Mutation_p.E339K	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	405					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)				GGGTTTACCTCCACATATGTC	0.458																																							0											0													131	107	115					9																	98241284		2203	4300	6503	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1213G>A	9.37:g.98241284C>T	ENSP00000332353:p.Glu405Lys		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.E405K	ENST00000331920.6	37	c.1213	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476229	0.63737	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.56	5.65	5.65	0.86999	.	0.048312	0.85682	D	0.000000	D	0.88566	0.6471	L	0.40543	1.245	0.58432	D	0.999995	B;B;B;B	0.33807	0.426;0.097;0.046;0.1	B;B;B;B	0.36845	0.234;0.06;0.037;0.1	D	0.85036	0.0920	10	0.22706	T	0.39	-32.7334	14.7871	0.69810	0.0:0.7423:0.2577:0.0	.	254;339;404;405	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	K	405;339;254;254;339;254;404;122	ENSP00000332353:E405K;ENSP00000389744:E339K;ENSP00000399981:E254K;ENSP00000396135:E254K;ENSP00000410287:E339K;ENSP00000414823:E254K;ENSP00000364423:E404K;ENSP00000364420:E122K	ENSP00000332353:E405K	E	-	1	0	PTCH1	97281105	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	4.389000	0.59639	2.941000	0.99782	0.655000	0.94253	GAG	0	pfam_Patched,tigrfam_TM_rcpt_patched		0.458	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	protein_coding	OTTHUMT00000053229.2	87	215	0	0.00	0	0	C	NM_000264	0	0		98241284	-1	no_errors	ENST00000331920	ensembl	human	known	74_37	missense	89	155	11.88	8.28	12	14	SNP	1	T	T	98241284	C	T	98241284	3	4	35	1	0	0	0	0	1	0	0	0	12730	864	30	3	3194	3	PTCH1	9	98241284	Missense_Mutation	SNP	C	TCGA-X7-A8D8-01A-11D-A423-09		98241284	42972147	12	424											
ZDHHC6	64429	genome.wustl.edu	37	chr10	114204970	114204970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcccggaccgacaaacatGgcattgaagtaattataaag	17	7	9	8	2	0	1	0	1	0	0	0	3	0	2	2	2	2	2	2	2	7	4	rs367934020		TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr10:114204970G>A	ENST00000369405.3	-	2	648	c.225C>T	c.(223-225)gcC>gcT	p.A75A	ZDHHC6_ENST00000369404.3_Silent_p.A75A|VTI1A_ENST00000432306.1_5'Flank|VTI1A_ENST00000393077.2_5'Flank	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	75					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)		CGACAAACATGGCATTGAAGT	0.388																																							0											0								G		0,4406		0,0,2203	78	70	73		225	3.2	1	10		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZDHHC6	NM_022494.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		75/414	114204970	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.225C>T	10.37:g.114204970G>A			D3DRB6|Q53G45|Q96IV7|Q9H605	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase	p.A75	ENST00000369405.3	37	c.225	CCDS7574.1	10																																																																																			0	NULL		0.388	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC6	protein_coding	OTTHUMT00000050393.1	37	326	0	0.31	0	1	G	NM_022494	rs367934020	G->A		114204970	-1	no_errors	ENST00000369405	ensembl	human	known	74_37	silent	35	198	16.67	30.53	7	87	SNP	1	A	A	114204970	G	A	114204970	2	1	35	1	0	0	0	0	0	0	0	1	17616	1335	47	3		3	ZDHHC6	10	114204970	Silent	SNP	G	TCGA-X7-A8D8-01A-11D-A423-09		114204970	21329777	13	425											
FRY	10129	genome.wustl.edu	37	chr13	32821485	32821485	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactggagagaagctctgaAtatcttgaagctggtagttt	11	13	11	6	0	3	3	1	2	2	1	3	5	3	4	0	2	2	4	0	2	5	4			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr13:32821485A>G	ENST00000380250.3	+	48	7350	c.6854A>G	c.(6853-6855)aAt>aGt	p.N2285S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2285						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)		GAAGCTCTGAATATCTTGAAG	0.373																																							0											0													123	115	117					13																	32821485		1835	4092	5927	SO:0001583	missense	0			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.6854A>G	13.37:g.32821485A>G	ENSP00000369600:p.Asn2285Ser		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.N2285S	ENST00000380250.3	37	c.6854	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055678	0.75960	.	.	ENSG00000073910	ENST00000380250	T	0.22336	1.96	5.16	3.98	0.46160	.	0.090165	0.64402	D	0.000001	T	0.38453	0.1041	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.24548	-1.0157	10	0.12766	T	0.61	.	10.5755	0.45225	0.924:0.0:0.076:0.0	.	2285	Q5TBA9	FRY_HUMAN	S	2285	ENSP00000369600:N2285S	ENSP00000369600:N2285S	N	+	2	0	FRY	31719485	1.000000	0.71417	0.902000	0.35471	0.971000	0.66376	7.528000	0.81941	0.812000	0.34326	0.533000	0.62120	AAT	0	superfamily_ARM-type_fold		0.373	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	protein_coding	OTTHUMT00000044405.1	52	312	0	0.00	0	0	A	NM_023037	0	0		32821485	1	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	74	230	9.76	8.37	8	21	SNP	1	G	G	32821485	A	G	32821485	3	3	35	1	0	0	0	0	1	0	0	0	6063	101	4	3	7044	3	FRY	13	32821485	Missense_Mutation	SNP	A	TCGA-X7-A8D8-01A-11D-A423-09		32821485	82348393	14	426											
GSC	145258	genome.wustl.edu	37	chr14	95236123	95236123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagttgttgtagccgaggCgggagccgctgaccgcggcc	6	7	17	11	5	0	1	0	1	0	0	0	3	0	2	4	3	2	5	4	3	2	4			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr14:95236123C>A	ENST00000238558.3	-	1	439	c.230G>T	c.(229-231)cGc>cTc	p.R77L		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	77					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)		GTAGCCGAGGCGGGAGCCGCT	0.786																																					Pancreas(105;2165 2186 4892 18008)		0											0													1	1	1					14																	95236123		211	469	680	SO:0001583	missense	0				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.230G>T	14.37:g.95236123C>A	ENSP00000238558:p.Arg77Leu		Q86YR1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R77L	ENST00000238558.3	37	c.230	CCDS9930.1	14	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653905	0.47362	.	.	ENSG00000133937	ENST00000238558	D	0.92149	-2.98	4.6	2.63	0.31362	.	0.127670	0.47455	D	0.000233	D	0.83912	0.5357	L	0.29908	0.895	0.52501	D	0.999957	P	0.38827	0.649	B	0.34489	0.184	T	0.80621	-0.1301	10	0.42905	T	0.14	-15.25	8.5539	0.33469	0.1518:0.7671:0.0:0.0811	.	77	P56915	GSC_HUMAN	L	77	ENSP00000238558:R77L	ENSP00000238558:R77L	R	-	2	0	GSC	94305876	1.000000	0.71417	0.998000	0.56505	0.432000	0.31715	4.439000	0.59968	0.931000	0.37242	0.491000	0.48974	CGC	0	NULL		0.786	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSC	protein_coding	OTTHUMT00000410746.1	10	6	0	0.00	0	0	C		0	0		95236123	-1	no_errors	ENST00000238558	ensembl	human	known	74_37	missense	8	1	38.46	0.00	5	0	SNP	1	A	A	95236123	C	A	95236123	3	1	35	1	0	0	0	0	1	0	0	0	6814	768	27	5	555	5	GSC	14	95236123	Missense_Mutation	SNP	C	TCGA-X7-A8D8-01A-11D-A423-09		95236123	12113417	15	427											
SLC12A1	6557	genome.wustl.edu	37	chr15	48594991	48594991	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccatatcggatttgttgtAtatggcttggttggaaatcc	9	16	10	6	1	0	0	0	0	0	0	3	2	2	2	2	4	0	4	2	4	4	7			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr15:48594991A>G	ENST00000558405.1	+	26	3223	c.3209A>G	c.(3208-3210)tAt>tGt	p.Y1070C	SLC12A1_ENST00000396577.3_Missense_Mutation_p.Y1070C|SLC12A1_ENST00000380993.3_Missense_Mutation_p.Y1070C			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	1070					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GATTTGTTGTATATGGCTTGG	0.353																																							0											0			GRCh37	CM081798	SLC12A1	M							103	105	104					15																	48594991		2198	4297	6495	SO:0001583	missense	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.3209A>G	15.37:g.48594991A>G	ENSP00000453409:p.Tyr1070Cys		A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.Y1070C	ENST00000558405.1	37	c.3209	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991283	0.74703	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.96232	-3.95;-3.94	5.86	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.98623	0.9539	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98914	1.0781	10	0.87932	D	0	.	12.4074	0.55447	0.8738:0.0:0.0:0.1262	.	1070;1070	E9PDW4;Q13621	.;S12A1_HUMAN	C	1070	ENSP00000370381:Y1070C;ENSP00000379822:Y1070C	ENSP00000370381:Y1070C	Y	+	2	0	SLC12A1	46382283	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.176000	0.94839	1.128000	0.42052	0.528000	0.53228	TAT	0	tigrfam_Na/K/Cl_cotransptS		0.353	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	protein_coding	OTTHUMT00000417131.1	155	291	0	0.00	0	0	A		0	0		48594991	1	no_errors	ENST00000380993	ensembl	human	known	74_37	missense	186	296	7.46	4.82	15	15	SNP	1	G	G	48594991	A	G	48594991	3	3	35	1	0	0	0	0	1	0	0	0	14382	449	16	3	3411	3	SLC12A1	15	48594991	Missense_Mutation	SNP	A	TCGA-X7-A8D8-01A-11D-A423-09		48594991	53936401	16	428											
KIAA1632	57724	genome.wustl.edu	37	chr18	43437954	43437954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattctgtcaggacggagtCattctgctctgtctgaatga	9	13	11	8	1	6	3	2	2	4	1	6	5	6	5	0	2	1	1	0	2	1	2			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr18:43437954C>T	ENST00000282041.5	-	42	7340	c.7306G>A	c.(7306-7308)Gac>Aac	p.D2436N	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2436					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						AGGACGGAGTCATTCTGCTCT	0.557																																							0											0													69	72	71					18																	43437954		1938	4146	6084	SO:0001583	missense	0			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.7306G>A	18.37:g.43437954C>T	ENSP00000282041:p.Asp2436Asn		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.D2436N	ENST00000282041.5	37	c.7306	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991985	0.93167	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.10005	2.92	5.64	5.64	0.86602	.	.	.	.	.	T	0.18676	0.0448	L	0.53249	1.67	0.58432	D	0.999999	P	0.42692	0.787	B	0.43658	0.426	T	0.00262	-1.1867	9	0.62326	D	0.03	-4.4313	19.6884	0.95987	0.0:1.0:0.0:0.0	.	2436	Q9HCE0	EPG5_HUMAN	N	2436;364;1311	ENSP00000282041:D2436N	ENSP00000282041:D2436N	D	-	1	0	EPG5	41691952	1.000000	0.71417	0.658000	0.29665	0.981000	0.71138	5.666000	0.68059	2.658000	0.90341	0.561000	0.74099	GAC	0	NULL		0.557	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	protein_coding	OTTHUMT00000445081.1	41	111	0	0.00	0	0	C	NM_020964	0	0		43437954	-1	no_errors	ENST00000282041	ensembl	human	known	74_37	missense	37	87	13.95	7.45	6	7	SNP	0.998	T	T	43437954	C	T	43437954	3	4	35	1	0	0	0	0	1	0	0	0	8249	826	29	3	445	3	KIAA1632	18	43437954	Missense_Mutation	SNP	C	TCGA-X7-A8D8-01A-11D-A423-09		43437954	34639294	17	429											
CEACAM5	1048	genome.wustl.edu	37	chr19	42222112	42222112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggggtgaacctcagcCtctcctgccatgcagcctct	6	9	10	16	0	3	1	1	1	2	0	5	1	4	1	6	2	5	1	6	2	1	0			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr19:42222112C>A	ENST00000221992.6	+	6	1417	c.1303C>A	c.(1303-1305)Ctc>Atc	p.L435I	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.L434I|CEACAM5_ENST00000405816.1_Missense_Mutation_p.L435I	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	435	Ig-like 5.				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)		GAACCTCAGCCTCTCCTGCCA	0.527																																							0											0													120	102	108					19																	42222112		2203	4300	6503	SO:0001583	missense	0			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.1303C>A	19.37:g.42222112C>A	ENSP00000221992:p.Leu435Ile		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.L435I	ENST00000221992.6	37	c.1303	CCDS12584.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.83|12.83	2.055460|2.055460	0.36277|0.36277	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	D;D|.	0.82167|.	-1.58;-1.58|.	2.39|2.39	2.39|2.39	0.29439|0.29439	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.60792|0.60792	0.2296|0.2296	M|M	0.85777|0.85777	2.775|2.775	0.09310|0.09310	N|N	1|1	D;P|.	0.54397|.	0.966;0.801|.	D;P|.	0.69479|.	0.964;0.713|.	T|T	0.52697|0.52697	-0.8541|-0.8541	9|5	0.36615|.	T|.	0.2|.	.|.	8.4077|8.4077	0.32625|0.32625	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	435;435|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	I|H	435;435;153|430	ENSP00000221992:L435I;ENSP00000385072:L435I|.	ENSP00000221992:L435I|.	L|P	+|+	1|2	0|0	CEACAM5|CEACAM5	46913952|46913952	0.071000|0.071000	0.21146|0.21146	0.329000|0.329000	0.25429|0.25429	0.076000|0.076000	0.17211|0.17211	0.849000|0.849000	0.27723|0.27723	1.668000|1.668000	0.50843|0.50843	0.531000|0.531000	0.56144|0.56144	CTC|CCT	0	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.527	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	protein_coding	OTTHUMT00000321132.2	76	50	0	0.00	0	0	C	NM_004363	0	0		42222112	1	no_errors	ENST00000221992	ensembl	human	known	74_37	missense	66	41	9.59	6.82	7	3	SNP	0.359	A	A	42222112	C	A	42222112	3	1	35	1	0	0	0	0	1	0	0	0	3195	681	24	5	1325	5	CEACAM5	19	42222112	Missense_Mutation	SNP	C	TCGA-X7-A8D8-01A-11D-A423-09		42222112	16906871	18	430											
C20orf79	140856	genome.wustl.edu	37	chr20	18794489	18794489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagtgaccatcaacccaaGatcaaagcagaggatggacc	17	4	10	10	0	2	4	2	1	0	3	2	6	2	6	3	2	2	1	3	2	4	0			TCGA-X7-A8D8-01A-11D-A423-09	TCGA-X7-A8D8-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1659418d-2e29-4aeb-9e15-f1d2ddc6e778	e03ab0b1-b597-4490-b50c-43d1928ceb64	g.chr20:18794489G>A	ENST00000377428.2	+	1	120	c.30G>A	c.(28-30)aaG>aaA	p.K10K	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	10																	ATCAACCCAAGATCAAAGCAG	0.517																																							0											0													116	110	112					20																	18794489		2203	4300	6503	SO:0001819	synonymous_variant	0			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.30G>A	20.37:g.18794489G>A			Q548A4	Silent	SNP	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	p.K10	ENST00000377428.2	37	c.30	CCDS13139.1	20																																																																																			0	NULL		0.517	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCP2D1	protein_coding	OTTHUMT00000078193.1	34	153	0	0.00	0	0	G	NM_178483	0	0		18794489	1	no_errors	ENST00000377428	ensembl	human	known	74_37	silent	28	131	15.15	8.39	5	12	SNP	0.999	A	A	18794489	G	A	18794489	2	1	35	1	0	0	0	0	0	0	0	1	2119	933	33	3		3	C20orf79	20	18794489	Silent	SNP	G	TCGA-X7-A8D8-01A-11D-A423-09		18794489	44231031	19	431											
ALPP	250	genome.wustl.edu	37	chr2	233244304	233244304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaagggcaacttccagAccattggcttgagtgcagcc	9	8	13	11	0	1	2	1	1	0	1	2	2	2	2	3	3	3	3	3	3	2	3			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr2:233244304A>G	ENST00000392027.2	+	4	660	c.391A>G	c.(391-393)Acc>Gcc	p.T131A	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	131					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)		CAACTTCCAGACCATTGGCTT	0.567																																							0											0													54	48	50					2																	233244304		2203	4296	6499	SO:0001583	missense	0			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.391A>G	2.37:g.233244304A>G	ENSP00000375881:p.Thr131Ala		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.T131A	ENST00000392027.2	37	c.391	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	.	10.52	1.373276	0.24857	.	.	ENSG00000163283	ENST00000392027	D	0.95447	-3.71	2.31	1.09	0.20402	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.048937	0.85682	D	0.000000	D	0.93569	0.7947	L	0.41027	1.25	0.39728	D	0.97156	P	0.48589	0.912	P	0.53062	0.717	D	0.91005	0.4845	10	0.72032	D	0.01	.	7.0162	0.24889	0.8809:0.0:0.1191:0.0	.	131	P05187	PPB1_HUMAN	A	131	ENSP00000375881:T131A	ENSP00000375881:T131A	T	+	1	0	ALPP	232952548	0.208000	0.23494	0.028000	0.17463	0.162000	0.22319	3.225000	0.51246	0.147000	0.19030	0.248000	0.18094	ACC	0	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.567	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	protein_coding	OTTHUMT00000257032.3	47	54	0	0.00	0	0	A	NM_001632	0	0		233244304	1	no_errors	ENST00000392027	ensembl	human	known	74_37	missense	27	47	18.18	20.34	6	12	SNP	0.711	G	G	233244304	A	G	233244304	3	3	36	1	0	0	0	0	1	0	0	0	548	275	10	3	405	3	ALPP	2	233244304	Missense_Mutation	SNP	A	TCGA-X7-A8D9-01A-11D-A423-09		233244304	9955069	1	432											
SLC25A26	26018	genome.wustl.edu	37	chr3	66428197	66428197	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttatgaccgaacgcacaGcttgctgttggaagttggca	9	10	13	9	2	0	1	0	1	0	0	0	3	0	2	1	3	3	7	1	3	3	4			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr3:66428197G>C	ENST00000273261.3	-	0	5273				LRIG1_ENST00000496559.2_5'Flank|SLC25A26_ENST00000336733.6_Missense_Mutation_p.S176T|SLC25A26_ENST00000354883.6_Missense_Mutation_p.S264T|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000413054.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1						innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAACGCACAGCTTGCTGTTG	0.522																																							0											0													138	136	137					3																	66428197		2203	4300	6503	SO:0001628	intergenic_variant	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727		3.37:g.66428197G>C			Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.S264T	ENST00000273261.3	37	c.791	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	G	4.337	0.061903	0.08339	.	.	ENSG00000144741	ENST00000354883;ENST00000336733	T;T	0.78707	-1.2;-1.2	6.07	4.27	0.50696	.	0.656996	0.17095	N	0.187213	T	0.60650	0.2285	L	0.28115	0.83	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.42344	-0.9457	10	0.12430	T	0.62	-22.9376	6.987	0.24733	0.2086:0.1294:0.662:0.0	.	264	F8WAB8	.	T	264;176	ENSP00000346955:S264T;ENSP00000336801:S176T	ENSP00000336801:S176T	S	+	2	0	SLC25A26	66510887	0.777000	0.28628	0.203000	0.23512	0.012000	0.07955	3.873000	0.56093	1.570000	0.49709	0.655000	0.94253	AGC	0	pfam_Mitochondrial_sb/sol_carrier,pfscan_Mitochondrial_sb/sol_carrier		0.522	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A26	protein_coding	OTTHUMT00000351930.1	48	176	0	0.00	0	0	G	NM_015541	0	0		66428197	1	no_errors	ENST00000354883	ensembl	human	known	74_37	missense	47	121	7.84	6.20	4	8	SNP	0.026	C	C	66428197	G	C	66428197	1	2	36	0	1	0	0	0	0	0	0	0	14489	971	34	5		5	SLC25A26	3	66428197	IGR	SNP	G	TCGA-X7-A8D9-01A-11D-A423-09		66428197	131594233	2	433											
ZDHHC11	79844	genome.wustl.edu	37	chr5	825360	825360	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagcagggagctcttggcTttgactctggtgggacagaa	9	10	14	8	0	3	2	1	1	2	1	3	4	3	4	0	4	2	3	0	4	1	2	rs201174878		TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr5:825360T>C	ENST00000283441.8	-	8	1325	c.942A>G	c.(940-942)aaA>aaG	p.K314K	ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	314						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)			AGCTCTTGGCTTTGACTCTGG	0.552																																							0											0													168	117	134					5																	825360		2203	4296	6499	SO:0001819	synonymous_variant	0			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.942A>G	5.37:g.825360T>C			Q6UWR9	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.K314	ENST00000283441.8	37	c.942	CCDS3857.1	5																																																																																			0	NULL		0.552	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	protein_coding	OTTHUMT00000206681.3	52	101	1.89	1.92	1	2	T	NM_024786	rs201174878	T->C		825360	-1	no_errors	ENST00000283441	ensembl	human	known	74_37	silent	31	108	8.82	5.26	3	6	SNP	0.002	C	C	825360	T	C	825360	2	2	36	1	0	0	0	0	0	0	0	1	17598	1606	56	4		4	ZDHHC11	5	825360	Silent	SNP	T	TCGA-X7-A8D9-01A-11D-A423-09		825360	180089900	3	434											
CYFIP2	26999	genome.wustl.edu	37	chr5	156712386	156712386	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccatgaccacgcacgtCaccctggaagatgccctgtc	9	6	10	16	2	1	2	1	1	0	1	2	3	1	3	4	1	2	2	4	1	1	0			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr5:156712386C>A	ENST00000521420.1	+	2	106	c.15C>A	c.(13-15)gtC>gtA	p.V5V	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Silent_p.V5V|CYFIP2_ENST00000541131.1_Silent_p.V5V|CYFIP2_ENST00000377576.3_Silent_p.V5V|CYFIP2_ENST00000347377.6_Silent_p.V5V|CYFIP2_ENST00000318218.6_Silent_p.V5V					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)			CCACGCACGTCACCCTGGAAG	0.547																																							0											0													40	46	44					5																	156712386		2148	4264	6412	SO:0001819	synonymous_variant	0			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.15C>A	5.37:g.156712386C>A				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.V5	ENST00000521420.1	37	c.15		5																																																																																			0	pirsf_Cytoplasmic_FMR1-int_sub		0.547	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	protein_coding	OTTHUMT00000373710.1	42	124	0	0.00	0	0	C	NM_001037332	0	0		156712386	1	no_errors	ENST00000318218	ensembl	human	known	74_37	silent	15	80	25	18.37	5	18	SNP	1	A	A	156712386	C	A	156712386	2	1	36	1	0	0	0	0	0	0	0	1	4138	813	29	5		5	CYFIP2	5	156712386	Silent	SNP	C	TCGA-X7-A8D9-01A-11D-A423-09	155887026	156712386	24202874	4	435											
HOXA1	3198	genome.wustl.edu	37	chr7	27135319	27135319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccggctgggggtggcgatgGtggtggtggtggtggtggtg	1	10	26	4	2	0	0	0	0	0	0	0	1	0	0	1	11	0	1	1	11	0	0	rs2074398		TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr7:27135319G>A	ENST00000343060.4	-	1	274	c.213C>T	c.(211-213)caC>caT	p.H71H	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Silent_p.H71H|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_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											0													37	40	39					7																	27135319		2203	4300	6503	SO:0001819	synonymous_variant	0				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		792	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																																																																																			0	NULL		0.642	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA1	protein_coding	OTTHUMT00000358454.1	57	54	0	1.82	0	1	G		rs2074398	G->A		27135319	-1	no_errors	ENST00000343060	ensembl	human	known	74_37	silent	43	40	12.24	4.76	6	2	SNP	0.999	A	A	27135319	G	A	27135319	2	1	36	1	0	0	0	0	0	0	0	1	7288	1252	44	3		3	HOXA1	7	27135319	Silent	SNP	G	TCGA-X7-A8D9-01A-11D-A423-09		27135319	132003344	5	436											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	253	152	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	260	101	16.61	21.09	52	27	SNP	1	A	A	74146970	T	A	74146970	3	1	36	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-X7-A8D9-01A-11D-A423-09	47011651	74146970	84991693	6	437											
PI15	51050	genome.wustl.edu	37	chr8	75737551	75737551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgaagcaagtaccgtcGtcctactcaattccactgac	10	11	7	13	2	2	2	1	2	1	0	5	2	4	2	3	0	3	2	3	0	5	3	rs529529830		TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr8:75737551G>A	ENST00000260113.2	+	2	246	c.67G>A	c.(67-69)Gtc>Atc	p.V23I	RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.V23I|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	23						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AAGTACCGTCGTCCTACTCAA	0.483																																							0											0													194	187	189					8																	75737551		2203	4300	6503	SO:0001583	missense	0			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.67G>A	8.37:g.75737551G>A	ENSP00000260113:p.Val23Ile		Q68CY1	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.V23I	ENST00000260113.2	37	c.67	CCDS6218.1	8	.	.	.	.	.	.	.	.	.	.	G	9.169	1.020750	0.19433	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08458	3.09;3.09	4.77	-1.42	0.08913	.	0.647515	0.15924	N	0.237965	T	0.05502	0.0145	L	0.40543	1.245	0.29548	N	0.851595	P	0.34587	0.458	B	0.22880	0.042	T	0.27971	-1.0058	10	0.28530	T	0.3	.	10.0616	0.42277	0.4226:0.0:0.5774:0.0	.	23	O43692	PI15_HUMAN	I	23	ENSP00000260113:V23I;ENSP00000428567:V23I	ENSP00000260113:V23I	V	+	1	0	PI15	75900106	0.979000	0.34478	0.129000	0.21949	0.931000	0.56810	1.123000	0.31308	-0.403000	0.07622	-1.020000	0.02445	GTC	0	NULL		0.483	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PI15	protein_coding	OTTHUMT00000379115.1	50	143	0	0.00	0	0	G	NM_015886	0	0		75737551	1	no_errors	ENST00000260113	ensembl	human	known	74_37	missense	34	128	10.53	7.25	4	10	SNP	0.907	A	A	75737551	G	A	75737551	3	1	36	1	0	0	0	0	1	0	0	0	11868	1145	40	1	69	1	PI15	8	75737551	Missense_Mutation	SNP	G	TCGA-X7-A8D9-01A-11D-A423-09		75737551	70626471	7	438											
GRIP1	23426	genome.wustl.edu	37	chr12	66788085	66788085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggggccccccgtagcGtttaagctccacggtgtaaa	9	7	12	13	3	0	0	0	0	0	0	1	0	1	0	5	3	2	4	5	3	5	4			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr12:66788085G>A	ENST00000398016.3	-	16	1944	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000359742.4_Missense_Mutation_p.R678C|GRIP1_ENST00000286445.7_Missense_Mutation_p.R678C	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)		CCCCCGTAGCGTTTAAGCTCC	0.418																																							0											0													85	81	82					12																	66788085		1815	4076	5891	SO:0001583	missense	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1876C>T	12.37:g.66788085G>A	ENSP00000381098:p.Arg626Cys		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R678C	ENST00000398016.3	37	c.2032	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971893	0.74246	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	4.2	4.2	0.49525	PDZ/DHR/GLGF (3);	0.155706	0.56097	D	0.000027	T	0.71239	0.3316	H	0.95470	3.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72982	0.921;0.969;0.979;0.979	T	0.81767	-0.0782	9	.	.	.	-15.8081	17.8456	0.88729	0.0:0.0:1.0:0.0	.	626;678;626;678	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	C	626;678;678;626;570;518	ENSP00000381098:R626C;ENSP00000352780:R678C;ENSP00000286445:R678C;ENSP00000446047:R626C;ENSP00000446024:R570C;ENSP00000446011:R518C	.	R	-	1	0	GRIP1	65074352	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.181000	0.65054	2.644000	0.89710	0.655000	0.94253	CGC	0	pfam_PDZ,superfamily_PDZ,pfscan_PDZ		0.418	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	protein_coding	OTTHUMT00000401975.2	59	232	0	0.00	0	0	G		0	0		66788085	-1	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	53	162	18.46	19.80	12	40	SNP	1	A	A	66788085	G	A	66788085	3	1	36	1	0	0	0	0	1	0	0	0	6787	1145	40	1	1390	1	GRIP1	12	66788085	Missense_Mutation	SNP	G	TCGA-X7-A8D9-01A-11D-A423-09		66788085	67063810	8	439											
TMCO3	55002	genome.wustl.edu	37	chr13	114203809	114203809	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggtgctgtggagagctgcaAtcacgaggtgtgtgcccaga	8	8	16	9	2	1	2	1	0	0	2	1	4	1	2	1	3	4	3	1	3	1	0	rs142845599		TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr13:114203809A>G	ENST00000434316.2	+	13	2349	c.1990A>G	c.(1990-1992)Atc>Gtc	p.I664V	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	664						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)			GAGAGCTGCAATCACGAGGTG	0.602																																							0											0								A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	112	81	92		1990	2.5	0	13	dbSNP_134	92	0,8600		0,0,4300	no	missense	TMCO3	NM_017905.4	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	664/678	114203809	1,13005	2203	4300	6503	SO:0001583	missense	0			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1990A>G	13.37:g.114203809A>G	ENSP00000389399:p.Ile664Val		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.I664V	ENST00000434316.2	37	c.1990	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396183	0.25205	2.27E-4	0.0	ENSG00000150403	ENST00000434316	T	0.30981	1.51	5.02	2.55	0.30701	.	0.174773	0.49916	N	0.000136	T	0.13243	0.0321	N	0.11560	0.145	0.22034	N	0.999404	B	0.02656	0.0	B	0.09377	0.004	T	0.24621	-1.0155	10	0.21014	T	0.42	-12.1893	5.6938	0.17845	0.6995:0.1418:0.1587:0.0	.	664	Q6UWJ1	TMCO3_HUMAN	V	664	ENSP00000389399:I664V	ENSP00000389399:I664V	I	+	1	0	TMCO3	113251810	0.197000	0.23362	0.002000	0.10522	0.096000	0.18686	2.012000	0.40932	0.261000	0.21753	0.378000	0.23410	ATC	0	NULL		0.602	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	protein_coding	OTTHUMT00000045931.3	23	40	0	0.00	0	0	A	NM_017905	rs142845599	A->C,G		114203809	1	no_errors	ENST00000434316	ensembl	human	known	74_37	missense	4	24	60	22.58	6	7	SNP	0.044	G	G	114203809	A	G	114203809	3	3	36	1	0	0	0	0	1	0	0	0	15994	101	4	3	2036	3	TMCO3	13	114203809	Missense_Mutation	SNP	A	TCGA-X7-A8D9-01A-11D-A423-09		114203809	966069	9	440											
TBL3	10607	genome.wustl.edu	37	chr16	2025390	2025390	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggagccagtgtcccaGctgggtgtgaagtccccagg	8	6	15	12	0	0	2	0	1	0	1	2	3	2	3	5	3	2	1	5	3	1	0			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr16:2025390G>C	ENST00000568546.1	+	9	884	c.756G>C	c.(754-756)caG>caC	p.Q252H		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	252					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						CAGTGTCCCAGCTGGGTGTGA	0.632																																					Melanoma(118;616 1651 35077 38081 48633)		0											0													107	111	109					16																	2025390		2198	4300	6498	SO:0001583	missense	0			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.756G>C	16.37:g.2025390G>C	ENSP00000454836:p.Gln252His		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.Q252H	ENST00000568546.1	37	c.756	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	7.848	0.723304	0.15439	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.14	-4.1	0.03940	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	2.734510	0.01256	N	0.009013	T	0.26919	0.0659	L	0.29908	0.895	0.09310	N	0.999994	P;P	0.36027	0.533;0.533	B;B	0.36885	0.235;0.235	T	0.34601	-0.9822	9	0.52906	T	0.07	-4.3971	6.7682	0.23579	0.3059:0.2979:0.3962:0.0	.	14;252	A0JLS5;Q12788	.;TBL3_HUMAN	H	252	.	ENSP00000331815:Q252H	Q	+	3	2	TBL3	1965391	0.000000	0.05858	0.105000	0.21289	0.297000	0.27493	-0.674000	0.05233	-0.348000	0.08286	0.655000	0.94253	CAG	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.632	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	protein_coding	OTTHUMT00000250615.3	54	82	0	1.20	0	1	G	NM_006453	0	0		2025390	1	no_errors	ENST00000568546	ensembl	human	known	74_37	missense	27	72	10	6.49	3	5	SNP	0.042	C	C	2025390	G	C	2025390	3	2	36	1	0	0	0	0	1	0	0	0	15640	962	34	5	790	5	TBL3	16	2025390	Missense_Mutation	SNP	G	TCGA-X7-A8D9-01A-11D-A423-09		2025390	88329363	10	441											
DNM2	1785	genome.wustl.edu	37	chr19	10886517	10886517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcattctggctgtcaCgcccgccaacatggacctgg	7	8	10	16	2	3	0	2	0	1	0	3	1	3	1	4	3	2	1	4	3	1	1			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr19:10886517C>T	ENST00000355667.6	+	4	604	c.524C>T	c.(523-525)aCg>aTg	p.T175M	DNM2_ENST00000408974.4_Missense_Mutation_p.T175M|DNM2_ENST00000585892.1_Missense_Mutation_p.T175M|DNM2_ENST00000359692.6_Missense_Mutation_p.T175M|DNM2_ENST00000389253.4_Missense_Mutation_p.T175M|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000314646.5_Missense_Mutation_p.T175M	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	175	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTGGCTGTCACGCCCGCCAAC	0.607			"F, N, Splice, Mis, O"		ETP ALL																																		0		Rec	yes		19	19p13.2	1785	dynamin 2		L	0													80	72	75					19																	10886517		2203	4300	6503	SO:0001583	missense	0				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.524C>T	19.37:g.10886517C>T	ENSP00000347890:p.Thr175Met		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	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.T175M	ENST00000355667.6	37	c.524	CCDS45968.1	19	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098239	0.76870	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73	5.38	5.38	0.77491	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.97545	0.9196	M	0.73962	2.25	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	0.98212	1.0473	10	0.87932	D	0	.	17.9081	0.88926	0.0:1.0:0.0:0.0	.	175;175;175;175	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	M	164;175;175;175;175;175	ENSP00000386192:T175M;ENSP00000347890:T175M;ENSP00000352721:T175M;ENSP00000373905:T175M;ENSP00000313164:T175M	ENSP00000313164:T175M	T	+	2	0	DNM2	10747517	0.999000	0.42202	0.983000	0.44433	0.382000	0.30200	7.818000	0.86416	2.530000	0.85305	0.561000	0.74099	ACG	0	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase		0.607	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	protein_coding	OTTHUMT00000452592.1	14	105	0	0.00	0	0	C	NM_004945	0	0		10886517	1	no_errors	ENST00000314646	ensembl	human	known	74_37	missense	8	86	27.27	7.53	3	7	SNP	1	T	T	10886517	C	T	10886517	3	4	36	1	0	0	0	0	1	0	0	0	4672	536	19	1	538	1	DNM2	19	10886517	Missense_Mutation	SNP	C	TCGA-X7-A8D9-01A-11D-A423-09		10886517	48242466	11	442											
SLC10A3	8273	genome.wustl.edu	37	chrX	153716218	153716218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaagctgaagggcttgacGacctgcagcagcagctggga	12	5	14	10	1	0	2	0	2	0	0	0	4	0	3	1	2	5	6	1	2	2	1			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chrX:153716218G>A	ENST00000393587.4	-	3	1325	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V	SLC10A3_ENST00000393586.1_Silent_p.V409V|SLC10A3_ENST00000263512.4_Silent_p.V354V|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000369649.4_Silent_p.V325V|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	354			V -> I (in dbSNP:rs35381503).		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)					AGGGCTTGACGACCTGCAGCA	0.612																																							0											0													47	47	47					X																	153716218		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1062C>T	X.37:g.153716218G>A			Q5HY79|Q9BSL2	Silent	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.V354	ENST00000393587.4	37	c.1062	CCDS14755.1	X																																																																																			0	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt		0.612	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	protein_coding	OTTHUMT00000037235.3	78	111	0	0.00	0	0	G	NM_019848	0	0		153716218	-1	no_errors	ENST00000263512	ensembl	human	known	74_37	silent	38	81	13.64	12.90	6	12	SNP	0.999	A	A	153716218	G	A	153716218	2	1	36	1	0	0	0	0	0	0	0	1	14375	1045	37	2		2	SLC10A3	23	153716218	Silent	SNP	G	TCGA-X7-A8D9-01A-11D-A423-09		153716218	1554342	12	443											
EPS8L1	54869	genome.wustl.edu	37	chr19	55598164	55598164	+	Frame_Shift_Del	DEL	C	C	-																															tcgggaccgagccgcgcagtCccagggccccgcgccccgga																										TCGA-X7-A8DB-01A-11D-A423-09	TCGA-X7-A8DB-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d311cd3f-0886-4912-a8a9-76b2cc2b077c	ea15d2b0-9a1f-4d6f-84c6-230afd6f0dd1	g.chr19:55598164delC	ENST00000201647.6	+	18	1916	c.1860delC	c.(1858-1860)gtcfs	p.V620fs	EPS8L1_ENST00000588359.1_Frame_Shift_Del_p.V306fs|EPS8L1_ENST00000540810.1_Frame_Shift_Del_p.V556fs|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Del_p.V493fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	620					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCCGCGCAGTCCCAGGGCCCC	0.716																																					Ovarian(149;255 1863 3636 27051 29647)		0											0													6	8	7					19																	55598164		2045	4013	6058	SO:0001589	frameshift_variant	0			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1860delC	19.37:g.55598164delC	ENSP00000201647:p.Val620fs		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Frame_Shift_Del	DEL	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain	p.P621fs	ENST00000201647.6	37	c.1860	CCDS12914.1	19																																																																																			0	NULL		0.716	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	protein_coding	OTTHUMT00000451713.1	12	4	0	0.00	0	0	C	NM_017729	0	0		55598164	1	no_errors	ENST00000201647	ensembl	human	known	74_37	frame_shift_del	4	8	33.33	0.00	2	0	DEL	0.001	0	-	55598164	C	-	55598164	7	5	37	1	0	1	0	1	0	0	0	0	5195	842	30	0	1978	0	EPS8L1	19	55598164	Frame_Shift_Del	DEL	C	TCGA-X7-A8DB-01A-11D-A423-09		55598164	3530819	1	444											
MAST4	375449	genome.wustl.edu	37	chr5	65892669	65892671	+	In_Frame_Del	DEL	GCC	GCC	-																															ggcttctccagagagcatcaGccgccgccgccgccgccgtt																										TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr5:65892669_65892671delGCC	ENST00000403625.2	+	1	481_483	c.186_188delGCC	c.(184-189)cagccg>cag	p.P68del	MAST4_ENST00000406039.1_In_Frame_Del_p.P68del|MAST4_ENST00000406374.1_In_Frame_Del_p.P68del|MAST4_ENST00000404260.3_In_Frame_Del_p.P68del	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	68						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)		GAGAGCATCAGCCGCCGCCGCCG	0.749																																							0											0																																										SO:0001651	inframe_deletion	0			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.186_188delGCC	5.37:g.65892678_65892680delGCC	ENSP00000385727:p.Pro68del		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	In_Frame_Del	DEL	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.P66in_frame_del	ENST00000403625.2	37	c.186_188	CCDS54861.1	5																																																																																			0	NULL		0.749	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	protein_coding	OTTHUMT00000326324.2	14	12	0	0.00	0	0	GCC		0	0		65892671	1	no_errors	ENST00000404260	ensembl	human	known	74_37	in_frame_del	12	9	14.29	0.00	2	0	DEL	0.182:0.176:0.146	0	-	65892671	GCC	-	65892669	7	5	38	1	0	1	0	1	0	0	0	0	9327	962	34	0	188	0	MAST4	5	65892669	In_Frame_Del	DEL	GCC	TCGA-X7-A8DC-01A-11D-A423-09		65892669	115022591	1	445											
ELOVL5	60481	genome.wustl.edu	37	chr6	53138103	53138103	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatagtaagagtacatgAggacgtggatgaagctatta	16	9	11	5	1	0	3	0	2	0	1	0	5	0	5	1	2	3	3	1	2	7	5			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr6:53138103A>C	ENST00000542638.1	-	6	983	c.536T>G	c.(535-537)cTc>cGc	p.L179R	ELOVL5_ENST00000541407.1_Missense_Mutation_p.L206R|ELOVL5_ENST00000486973.1_5'Flank|ELOVL5_ENST00000370918.4_Missense_Mutation_p.L169R|ELOVL5_ENST00000304434.6_Missense_Mutation_p.L179R			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	179				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|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)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGAGTACATGAGGACGTGGAT	0.473																																							0											0													188	166	173					6																	53138103		2203	4300	6503	SO:0001583	missense	0			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)", "spinocerebellar ataxia 38"	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.536T>G	6.37:g.53138103A>C	ENSP00000440728:p.Leu179Arg		B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.L206R	ENST00000542638.1	37	c.617	CCDS4951.1	6	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440993	0.83993	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.72	5.72	0.89469	.	.	.	.	.	T	0.55289	0.1911	H	0.94771	3.58	0.80722	D	1	D;D	0.62365	0.991;0.99	P;D	0.67725	0.847;0.953	T	0.70153	-0.4950	9	0.87932	D	0	-14.5076	16.0121	0.80409	1.0:0.0:0.0:0.0	.	206;179	F6SH78;Q9NYP7	.;ELOV5_HUMAN	R	169;179;179;206	ENSP00000359956:L169R;ENSP00000306640:L179R;ENSP00000440728:L179R;ENSP00000438095:L206R	ENSP00000306640:L179R	L	-	2	0	ELOVL5	53246062	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	9.281000	0.95811	2.195000	0.70347	0.454000	0.30748	CTC	0	pfam_GNS1_SUR4		0.473	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL5	protein_coding	OTTHUMT00000043566.1	86	251	0	0.00	0	0	A	NM_021814	0	0		53138103	-1	no_errors	ENST00000541407	ensembl	human	known	74_37	missense	75	304	13.79	15.75	12	57	SNP	1	C	C	53138103	A	C	53138103	3	2	38	1	0	0	0	0	1	0	0	0	5077	304	11	5	375	5	ELOVL5	6	53138103	Missense_Mutation	SNP	A	TCGA-X7-A8DC-01A-11D-A423-09		53138103	117976964	2	446											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	304	117	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	355	171	8.27	9.04	32	17	SNP	1	A	A	74146970	T	A	74146970	3	1	38	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-X7-A8DC-01A-11D-A423-09		74146970	84991693	3	447											
OR2D2	120776	genome.wustl.edu	37	chr11	6913662	6913662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgataaatagcagctgctCggtgtgtggcccatcagaga	11	9	12	9	2	1	1	1	0	0	1	2	3	1	1	1	2	4	3	1	2	4	3			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr11:6913662C>T	ENST00000299459.2	-	1	168	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	24					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(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCAGCTGCTCGGTGTGTGGC	0.443																																							0											0													120	102	108					11																	6913662		2201	4296	6497	SO:0001583	missense	0			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.70G>A	11.37:g.6913662C>T	ENSP00000299459:p.Glu24Lys		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.E24K	ENST00000299459.2	37	c.70	CCDS31416.1	11	.	.	.	.	.	.	.	.	.	.	c	13.78	2.339288	0.41398	.	.	ENSG00000166368	ENST00000299459	T	0.00424	7.45	5.25	4.34	0.51931	.	0.000000	0.41823	D	0.000802	T	0.00300	0.0009	N	0.17901	0.54	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49969	-0.8882	10	0.87932	D	0	-10.9912	12.6585	0.56801	0.0:0.3193:0.6806:0.0	.	24	Q9H210	OR2D2_HUMAN	K	24	ENSP00000299459:E24K	ENSP00000299459:E24K	E	-	1	0	OR2D2	6870238	0.001000	0.12720	0.158000	0.22627	0.005000	0.04900	0.767000	0.26575	1.604000	0.50143	-0.134000	0.14843	GAG	0	NULL		0.443	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D2	protein_coding	OTTHUMT00000385986.1	32	199	0	0.00	0	0	C	NM_003700	0	0		6913662	-1	no_errors	ENST00000299459	ensembl	human	known	74_37	missense	35	291	18.6	6.13	8	19	SNP	0.06	T	T	6913662	C	T	6913662	3	4	38	1	0	0	0	0	1	0	0	0	10994	893	31	2	859	2	OR2D2	11	6913662	Missense_Mutation	SNP	C	TCGA-X7-A8DC-01A-11D-A423-09		6913662	128092854	4	448											
DDX10	1662	genome.wustl.edu	37	chr11	108593732	108593732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccatatttaaggtctcttgGtcttgctgtggcaccacgcg	6	14	10	11	2	2	0	0	0	2	0	4	0	3	0	2	3	1	2	2	3	2	5			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr11:108593732G>T	ENST00000322536.3	+	13	1637	c.1508G>T	c.(1507-1509)gGt>gTt	p.G503V	DDX10_ENST00000526794.1_Missense_Mutation_p.G503V	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	503					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)		AGGTCTCTTGGTCTTGCTGTG	0.408			T	NUP98	AML*																																		0		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													37	37	37					11																	108593732		2201	4297	6498	SO:0001583	missense	0			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.1508G>T	11.37:g.108593732G>T	ENSP00000314348:p.Gly503Val		B2RCQ3|Q5BJD8	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.G503V	ENST00000322536.3	37	c.1508	CCDS8342.1	11	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704659	0.68615	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.61274	0.12;0.19	5.53	4.62	0.57501	.	0.046550	0.85682	D	0.000000	D	0.82549	0.5061	H	0.95950	3.745	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.989	D	0.87631	0.2516	10	0.87932	D	0	-18.1765	12.9746	0.58531	0.0749:0.0:0.9251:0.0	.	503;503	Q13206;E9PIF2	DDX10_HUMAN;.	V	503;409;503	ENSP00000314348:G503V;ENSP00000432032:G503V	ENSP00000314348:G503V	G	+	2	0	DDX10	108098942	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.453000	0.73488	1.486000	0.48398	-0.142000	0.14014	GGT	0	NULL		0.408	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX10	protein_coding	OTTHUMT00000390343.1	67	183	0	0.00	0	0	G	NM_004398	0	0		108593732	1	no_errors	ENST00000322536	ensembl	human	known	74_37	missense	57	225	14.93	11.07	10	28	SNP	1	T	T	108593732	G	T	108593732	3	4	38	1	0	0	0	0	1	0	0	0	4342	1261	44	5	1558	5	DDX10	11	108593732	Missense_Mutation	SNP	G	TCGA-X7-A8DC-01A-11D-A423-09	101680070	108593732	26412784	5	449											
HECTD1	25831	genome.wustl.edu	37	chr14	31582558	31582558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgaaggacatcttctaCtccacaagagttctgtccat	12	11	7	11	0	3	2	0	1	3	1	5	3	5	3	2	1	2	2	2	1	4	3			TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr14:31582558C>G	ENST00000399332.1	-	33	6477	c.5989G>C	c.(5989-5991)Gta>Cta	p.V1997L	HECTD1_ENST00000553700.1_Missense_Mutation_p.V1997L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1997					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)		ACATCTTCTACTCCACAAGAG	0.398																																							0											0													167	162	164					14																	31582558		1864	4105	5969	SO:0001583	missense	0			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.5989G>C	14.37:g.31582558C>G	ENSP00000382269:p.Val1997Leu		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.V1997L	ENST00000399332.1	37	c.5989	CCDS41939.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.61|14.61	2.587226|2.587226	0.46110|0.46110	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.08458	.|3.09;3.09;3.09	5.94|5.94	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.64402	.|U	.|0.000005	T|T	0.09379|0.09379	0.0231|0.0231	L|L	0.37466|0.37466	1.105|1.105	0.80722|0.80722	D|D	1|1	.|B;B	.|0.25312	.|0.123;0.123	.|B;B	.|0.21917	.|0.037;0.037	T|T	0.06716|0.06716	-1.0811|-1.0811	5|10	.|0.72032	.|D	.|0.01	-13.1643|-13.1643	15.1812|15.1812	0.72960|0.72960	0.0:0.9327:0.0:0.0673|0.0:0.9327:0.0:0.0673	.|.	.|1997;1997	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	D|L	362|1997;1999;1997;1424	.|ENSP00000450697:V1997L;ENSP00000382269:V1997L;ENSP00000451860:V1424L	.|ENSP00000261312:V1999L	E|V	-|-	3|1	2|0	HECTD1|HECTD1	30652309|30652309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.055000|0.055000	0.15305|0.15305	6.072000|6.072000	0.71238|0.71238	1.527000|1.527000	0.49086|0.49086	-0.145000|-0.145000	0.13849|0.13849	GAG|GTA	0	NULL		0.398	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	protein_coding	OTTHUMT00000409942.1	104	246	0.95	0.00	1	0	C		0	0		31582558	-1	no_errors	ENST00000399332	ensembl	human	known	74_37	missense	110	273	9.84	7.77	12	23	SNP	1	G	G	31582558	C	G	31582558	3	3	38	1	0	0	0	0	1	0	0	0	7039	565	20	5	1887	5	HECTD1	14	31582558	Missense_Mutation	SNP	C	TCGA-X7-A8DC-01A-11D-A423-09		31582558	75766982	6	450											
RIN2	54453	genome.wustl.edu	37	chr20	19941396	19941396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagtcctctccctccGcctgccctgtgaatttgggg	7	10	11	13	1	1	2	0	1	1	1	4	3	3	2	5	2	1	0	5	2	3	1	rs200460217		TCGA-X7-A8DC-01A-11D-A423-09	TCGA-X7-A8DC-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	239598a0-27b2-44c2-8a2d-dae8041a8ba3	6f72bc55-ba4b-4bf1-9e48-f2a4de068979	g.chr20:19941396G>A	ENST00000255006.6	+	5	700	c.551G>A	c.(550-552)cGc>cAc	p.R184H	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.R135H	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	135	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						CTCTCCCTCCGCCTGCCCTGT	0.458																																							0											0								G	HIS/ARG,HIS/ARG	0,3710		0,0,1855	48	45	46		551,404	5.7	1	20		46	1,8213		0,1,4106	yes	missense,missense	RIN2	NM_001242581.1,NM_018993.3	29,29	0,1,5961	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	184/945,135/896	19941396	1,11923	1855	4107	5962	SO:0001583	missense	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.551G>A	20.37:g.19941396G>A	ENSP00000255006:p.Arg184His		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.R184H	ENST00000255006.6	37	c.551	CCDS56182.1	20	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348600	0.82132	0.0	1.22E-4	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.06142	3.34;3.34	5.66	5.66	0.87406	SH2 motif (3);	0.049099	0.85682	D	0.000000	T	0.24586	0.0596	L	0.61036	1.89	0.38453	D	0.947009	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.00152	-1.1983	9	.	.	.	-31.9289	19.6911	0.96000	0.0:0.0:1.0:0.0	.	135;135	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	H	184;135	ENSP00000255006:R184H;ENSP00000391239:R135H	.	R	+	2	0	RIN2	19889396	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.514000	0.90545	2.813000	0.96785	0.655000	0.94253	CGC	0	pfscan_SH2		0.458	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	protein_coding	OTTHUMT00000078212.1	86	253	0	0.39	0	1	G		rs200460217	G->A		19941396	1	no_errors	ENST00000255006	ensembl	human	known	74_37	missense	62	314	8.82	4.53	6	15	SNP	1	A	A	19941396	G	A	19941396	3	1	38	1	0	0	0	0	1	0	0	0	13372	1087	38	1	418	1	RIN2	20	19941396	Missense_Mutation	SNP	G	TCGA-X7-A8DC-01A-11D-A423-09		19941396	43084124	7	451											
NBPF9	400818	genome.wustl.edu	37	chr1	144823868	144823868	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtcttgcaggactcactgTatagatgttattcaactcct	11	14	7	9	0	3	1	2	0	1	1	4	2	4	2	1	1	2	3	1	1	5	5	rs61807127		TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr1:144823868T>G	ENST00000281815.8	+	9	936	c.190T>G	c.(190-192)Tat>Gat	p.Y64D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y379D|NBPF9_ENST00000440491.2_Missense_Mutation_p.Y379D			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GGACTCACTGTATAGATGTTA	0.478																																							0											0																																										SO:0001583	missense	0				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.190T>G	1.37:g.144823868T>G	ENSP00000281815:p.Tyr64Asp			Missense_Mutation	SNP	pfam_NBPF_dom	p.Y64D	ENST00000281815.8	37	c.190		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.727028|-2.727028	0.00091|0.00091	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000440491;ENST00000281815	.|T;T;T	.|0.03035	.|4.07;4.07;4.07	0.431|0.431	0.431|0.431	0.16523|0.16523	.|.	.|.	.|.	.|.	.|.	T|T	0.00356|0.00356	0.0011|0.0011	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43814|0.43814	-0.9368|-0.9368	3|5	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	W|D	377|379;379;64	.|ENSP00000342975:Y379D;ENSP00000390934:Y379D;ENSP00000281815:Y64D	.|ENSP00000281815:Y64D	C|Y	+|+	3|1	2|0	NBPF9|NBPF9	143535225|143535225	0.130000|0.130000	0.22417|0.22417	0.001000|0.001000	0.08648|0.08648	0.032000|0.032000	0.12392|0.12392	-0.055000|-0.055000	0.11807|0.11807	-0.397000|-0.397000	0.07691|0.07691	-1.044000|-1.044000	0.02363|0.02363	TGT|TAT	0	pfam_NBPF_dom		0.478	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	NBPF9	protein_coding		33	4	2.94	0.00	1	0	T	NM_001037675	rs61807127	T->G		144823868	1	no_errors	ENST00000281815	ensembl	human	known	74_37	missense	46	0	13.21	0.00	7	0	SNP	0.001	G	G	144823868	T	G	144823868	3	3	39	1	0	0	0	0	1	0	0	0	10199	1638	57	5	1961	5	NBPF9	1	144823868	Missense_Mutation	SNP	T	TCGA-X7-A8DD-01A-11D-A423-09		144823868	104426753	1	452											
FNIP2	57600	genome.wustl.edu	37	chr4	159690435	159690435	+	Frame_Shift_Del	DEL	C	C	-																															cagctccgcggcggcgtctgCccagggcagggctcctaagg																										TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr4:159690435delC	ENST00000264433.6	+	1	146	c.71delC	c.(70-72)gccfs	p.A24fs		NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	24					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)		GCGGCGTCTGCCCAGGGCAGG	0.716																																							0											0													3	4	4					4																	159690435		1430	3465	4895	SO:0001589	frameshift_variant	0			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.71delC	4.37:g.159690435delC	ENSP00000264433:p.Ala24fs		Q05DC3|Q96I31|Q9H994	Frame_Shift_Del	DEL	NULL	p.Q25fs	ENST00000264433.6	37	c.71	CCDS47155.1	4																																																																																			0	NULL		0.716	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	protein_coding	OTTHUMT00000366602.1	8	17	0	0.00	0	0	C	NM_020840	0	0		159690435	1	no_errors	ENST00000264433	ensembl	human	known	74_37	frame_shift_del	4	10	33.33	0.00	2	0	DEL	0.994	0	-	159690435	C	-	159690435	7	5	39	1	0	1	0	1	0	0	0	0	5976	739	26	0	73	0	FNIP2	4	159690435	Frame_Shift_Del	DEL	C	TCGA-X7-A8DD-01A-11D-A423-09		159690435	31463841	2	453											
PCDHA9	9752	genome.wustl.edu	37	chr5	140229771	140229771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaacgacaatgcgccggCgctgctgacacctcggatga	10	5	13	13	6	0	3	0	2	0	1	1	6	0	4	2	2	3	2	2	2	2	0			TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr5:140229771C>T	ENST00000532602.1	+	1	2724	c.1691C>T	c.(1690-1692)gCg>gTg	p.A564V	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A564V	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	564	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(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)			AATGCGCCGGCGCTGCTGACA	0.692																																					Melanoma(55;1800 1972 14909)		0											0													59	64	62					5																	140229771		2196	4269	6465	SO:0001583	missense	0			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.1691C>T	5.37:g.140229771C>T	ENSP00000436042:p.Ala564Val		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A564V	ENST00000532602.1	37	c.1691	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.458841	0.01062	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.17528	2.27;2.27	3.2	-4.08	0.03963	Cadherin (3);Cadherin-like (1);	7.921720	0.02726	U	0.114513	T	0.06690	0.0171	N	0.01656	-0.775	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.37337	-0.9710	10	0.52906	T	0.07	.	7.9395	0.29950	0.0:0.3774:0.1097:0.5129	.	564;564	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	564	ENSP00000436042:A564V;ENSP00000367362:A564V	ENSP00000367362:A564V	A	+	2	0	PCDHA9	140209955	0.000000	0.05858	0.063000	0.19743	0.005000	0.04900	-3.690000	0.00392	-0.951000	0.03654	-1.797000	0.00622	GCG	0	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.692	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	protein_coding	OTTHUMT00000372896.2	43	8	0	0.00	0	0	C	NM_031857	0	0		140229771	1	no_errors	ENST00000532602	ensembl	human	known	74_37	missense	35	5	10.26	0.00	4	0	SNP	0	T	T	140229771	C	T	140229771	3	4	39	1	0	0	0	0	1	0	0	0	11531	768	27	1	1693	1	PCDHA9	5	140229771	Missense_Mutation	SNP	C	TCGA-X7-A8DD-01A-11D-A423-09		140229771	40685489	3	454											
PTPRD	5789	genome.wustl.edu	37	chr9	8317920	8317920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtactctagtgcggcaCgataggaaaactgatattga	13	9	11	8	2	1	2	0	2	1	0	1	4	1	3	1	3	3	2	1	3	6	5	rs200610422		TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr9:8317920C>T	ENST00000381196.4	-	43	6236	c.5693G>A	c.(5692-5694)cGt>cAt	p.R1898H	PTPRD_ENST00000397606.3_Missense_Mutation_p.R1491H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1898H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1898H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1488H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1488H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1885H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1876H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1492H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1491H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1491H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1898	Tyrosine-protein phosphatase 2. {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)		TAGTGCGGCACGATAGGAAAA	0.413										TSP Lung(15;0.13)			C|||	1	0.000199681	0	0	5008	,	,		17024	0		0.001	False		,,,				2504	0						0.9998,0.0001997											0													129	135	133					9																	8317920		2203	4299	6502	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5693G>A	9.37:g.8317920C>T	ENSP00000370593:p.Arg1898His		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.R1898H	ENST00000381196.4	37	c.5693	CCDS43786.1	9	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.55	2.568379	0.45798	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	L	0.42529	1.33	0.80722	D	1	D;D;D;D;P;D;P;D;B	0.89917	0.998;0.998;0.998;0.998;0.877;0.998;0.67;1.0;0.418	D;D;D;D;B;P;B;D;B	0.91635	0.932;0.932;0.932;0.932;0.221;0.888;0.32;0.999;0.189	D	0.88255	0.2919	10	0.56958	D	0.05	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1491;1482;1491;1492;1488;1488;1885;1898;1898	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1898;1898;1885;1876;1492;1491;1488;1488;1369;1898;1491;1491	ENSP00000370593:R1898H;ENSP00000348812:R1898H;ENSP00000353187:R1885H;ENSP00000351293:R1876H;ENSP00000347373:R1492H;ENSP00000380741:R1491H;ENSP00000380735:R1488H;ENSP00000440515:R1488H;ENSP00000438164:R1898H;ENSP00000417093:R1491H;ENSP00000380731:R1491H	ENSP00000340918:R1369H	R	-	2	0	PTPRD	8307920	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.762000	0.55250	2.885000	0.99019	0.655000	0.94253	CGT	0	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt		0.413	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	protein_coding	OTTHUMT00000055395.3	42	251	0	0.00	0	0	C		rs200610422	C->T		8317920	-1	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	52	196	8.77	6.19	5	13	SNP	1	T	T	8317920	C	T	8317920	3	4	39	1	0	0	0	0	1	0	0	0	12799	536	19	1	49	1	PTPRD	9	8317920	Missense_Mutation	SNP	C	TCGA-X7-A8DD-01A-11D-A423-09		8317920	132895511	4	455											
USP31	57478	genome.wustl.edu	37	chr16	23160099	23160099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggcgagggctcgggccGccccgcccggtactggccca	4	4	16	17	5	1	0	1	0	0	0	2	1	1	0	5	5	1	2	5	5	1	1			TCGA-X7-A8DD-01A-11D-A423-09	TCGA-X7-A8DD-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b7b649e2-9c4c-49a6-9c6a-ef46dfd56722	68688c74-b37d-43ac-a683-773db479d1fb	g.chr16:23160099G>A	ENST00000219689.7	-	1	492	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	118	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)		GGCTCGGGCCGCCCCGCCCGG	0.726																																							0											0													7	8	7					16																	23160099		2128	4172	6300	SO:0001583	missense	0			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.493C>T	16.37:g.23160099G>A	ENSP00000219689:p.Arg165Trp		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R165W	ENST00000219689.7	37	c.493	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048850	0.55110	.	.	ENSG00000103404	ENST00000219689	T	0.31769	1.48	3.15	2.07	0.26955	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.663975	0.13811	N	0.361084	T	0.31765	0.0807	N	0.24115	0.695	0.21652	N	0.999605	D	0.69078	0.997	P	0.60473	0.875	T	0.06285	-1.0835	10	0.37606	T	0.19	-4.3954	7.5266	0.27658	0.0:0.2681:0.7319:0.0	.	165	Q70CQ4	UBP31_HUMAN	W	165	ENSP00000219689:R165W	ENSP00000219689:R165W	R	-	1	2	USP31	23067600	0.014000	0.17966	0.230000	0.23976	0.578000	0.36192	0.973000	0.29422	1.770000	0.52166	0.411000	0.27672	CGG	0	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.726	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	protein_coding	OTTHUMT00000211607.1	31	11	0	0.00	0	0	G	NM_020718	0	0		23160099	-1	no_errors	ENST00000219689	ensembl	human	known	74_37	missense	39	6	11.36	0.00	5	0	SNP	0.039	A	A	23160099	G	A	23160099	3	1	39	1	0	0	0	0	1	0	0	0	17059	1086	38	1	3629	1	USP31	16	23160099	Missense_Mutation	SNP	G	TCGA-X7-A8DD-01A-11D-A423-09		23160099	67194654	5	456											
CTNNA1	1495	genome.wustl.edu	37	chr5	138163321	138163321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgactcgtcctgcacgCgtgatgaccgtcgtgagcga	6	8	14	13	7	0	3	0	3	0	0	3	5	1	3	3	1	2	1	3	1	0	0			TCGA-X7-A8DE-01A-11D-A423-09	TCGA-X7-A8DE-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5f544715-5a3a-4997-9151-5337c216d8ab	b7884a46-d16c-4a00-94f0-fa869d26c7be	g.chr5:138163321C>T	ENST00000302763.7	+	7	1066	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	CTNNA1_ENST00000518825.1_Missense_Mutation_p.R326C|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R223C	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	326	Interaction with alpha-actinin.				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)			GTCCTGCACGCGTGATGACCG	0.587																																							0											0													114	99	104					5																	138163321		2203	4300	6503	SO:0001583	missense	0			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.976C>T	5.37:g.138163321C>T	ENSP00000304669:p.Arg326Cys		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R326C	ENST00000302763.7	37	c.976	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475950	0.84640	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.42131	0.98;0.98;0.98	5.89	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	T	0.71533	-0.4564	10	0.66056	D	0.02	-7.1806	14.621	0.68584	0.0:0.9295:0.0:0.0705	.	326;203;326	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	C	223;326;326;311;326	ENSP00000347190:R223C;ENSP00000304669:R326C;ENSP00000427821:R326C	ENSP00000304669:R326C	R	+	1	0	CTNNA1	138191220	1.000000	0.71417	0.915000	0.36163	0.809000	0.45718	5.986000	0.70563	1.497000	0.48584	0.563000	0.77884	CGT	0	pfam_Vinculin/catenin,prints_Alpha_catenin		0.587	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	protein_coding	OTTHUMT00000373868.1	37	204	0	0.00	0	0	C	NM_001903	0	0		138163321	1	no_errors	ENST00000302763	ensembl	human	known	74_37	missense	15	101	16.67	11.30	3	13	SNP	0.997	T	T	138163321	C	T	138163321	3	4	40	1	0	0	0	0	1	0	0	0	4012	768	27	1	998	1	CTNNA1	5	138163321	Missense_Mutation	SNP	C	TCGA-X7-A8DE-01A-11D-A423-09		138163321	42751939	1	457											
GTF2I	2969	genome.wustl.edu	37	chr7	74149837	74149840	+	Frame_Shift_Del	DEL	AAGA	AAGA	-																															tatgccagaatcactaaattAagaaagatggtggatcagct																										TCGA-X7-A8DE-01A-11D-A423-09	TCGA-X7-A8DE-10A-01D-A426-09	AAGA	AAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f544715-5a3a-4997-9151-5337c216d8ab	b7884a46-d16c-4a00-94f0-fa869d26c7be	g.chr7:74149837_74149840delAAGA	ENST00000324896.4	+	17	1787_1790	c.1398_1401delAAGA	c.(1396-1401)ttaagafs	p.LR466fs	GTF2I_ENST00000353920.4_Frame_Shift_Del_p.LR446fs|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.LR425fs|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.LR445fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	466					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TCACTAAATTAAGAAAGATGGTGG	0.275																																							0											0									,,,,	4,1578		1,2,788					,,,,	4.4	0.1			2	20,2954		3,14,1470	no	frameshift,frameshift,frameshift,frameshift,frameshift	GTF2I	NM_033001.2,NM_033000.2,NM_032999.2,NM_001518.3,NM_001163636.1	,,,,	4,16,2258	A1A1,A1R,RR		0.6725,0.2528,0.5268	,,,,	,,,,		24,4532				SO:0001589	frameshift_variant	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1398_1401delAAGA	7.37:g.74149841_74149844delAAGA	ENSP00000322542:p.Leu466fs		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Frame_Shift_Del	DEL	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.K468fs	ENST00000324896.4	37	c.1398_1401	CCDS5573.1	7																																																																																			0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.275	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	58	17	0	0.00	0	0	AAGA	NM_032999	0	0		74149840	1	no_errors	ENST00000324896	ensembl	human	known	74_37	frame_shift_del	72	7	10	0.00	8	0	DEL	0.824:0.950:0.992:0.989	0	-	74149840	AAGA	-	74149837	7	5	40	1	0	1	0	1	0	0	0	0	6867	359	13	0	1460	0	GTF2I	7	74149837	Frame_Shift_Del	DEL	AAGA	TCGA-X7-A8DE-01A-11D-A423-09		74149837	84988826	2	458											
CBWD3	445571	genome.wustl.edu	37	chr9	70912543	70912543	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggaaatgcaaaggaagaAcatcttaatatgtttattca	17	11	7	6	0	2	1	1	0	1	1	2	3	2	3	1	2	2	2	1	2	7	5			TCGA-X7-A8DE-01A-11D-A423-09	TCGA-X7-A8DE-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5f544715-5a3a-4997-9151-5337c216d8ab	b7884a46-d16c-4a00-94f0-fa869d26c7be	g.chr9:70912543A>T	ENST00000360171.6	+	12	1415	c.864A>T	c.(862-864)gaA>gaT	p.E288D	CBWD3_ENST00000377342.5_Missense_Mutation_p.E268D	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	288	CobW C-terminal.						ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CAAAGGAAGAACATCTTAATA	0.274																																							0											0													2	2	2					9																	70912543		484	914	1398	SO:0001583	missense	0			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.864A>T	9.37:g.70912543A>T	ENSP00000353295:p.Glu288Asp		B4DNG9|Q6VB91	Missense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C	p.E288D	ENST00000360171.6	37	c.864	CCDS35038.1	9	.	.	.	.	.	.	.	.	.	.	.	6.436	0.448519	0.12223	.	.	ENSG00000196873	ENST00000360171;ENST00000447896;ENST00000455820;ENST00000377344;ENST00000377342	T;T	0.18174	2.23;2.23	3.68	2.47	0.30058	Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal (4);	0.205916	0.45606	D	0.000342	T	0.11623	0.0283	L	0.33710	1.025	0.25192	P	0.99012997	B;B	0.21225	0.053;0.005	B;B	0.21360	0.034;0.02	T	0.17258	-1.0375	9	0.25106	T	0.35	-1.7023	8.3665	0.32389	0.8976:0.0:0.1024:0.0	.	240;288	E7ETY5;Q5JTY5	.;CBWD3_HUMAN	D	288;269;240;252;268	ENSP00000353295:E288D;ENSP00000366559:E268D	ENSP00000353295:E288D	E	+	3	2	CBWD3	70102363	0.972000	0.33761	0.962000	0.40283	0.463000	0.32649	1.301000	0.33447	0.358000	0.24211	0.254000	0.18369	GAA	0	pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C		0.274	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	CBWD3	protein_coding	OTTHUMT00000052526.1	60	0	1.64	0.00	1	0	A	NM_201453	0	0		70912543	1	no_errors	ENST00000360171	ensembl	human	known	74_37	missense	64	0	11.11	0.00	8	0	SNP	0.9	T	T	70912543	A	T	70912543	3	4	40	1	0	0	0	0	1	0	0	0	2714	40	2	5	2158	5	CBWD3	9	70912543	Missense_Mutation	SNP	A	TCGA-X7-A8DE-01A-11D-A423-09		70912543	70300888	3	459											
FTMT	94033	genome.wustl.edu	37	chr5	121187726	121187726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtctctgcgcccggtgcGctgctgcttcgcgctcccgc	0	9	14	18	7	1	0	0	0	1	0	4	0	2	0	2	2	4	4	2	2	0	1	rs552079349		TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr5:121187726G>A	ENST00000321339.1	+	1	77	c.68G>A	c.(67-69)cGc>cAc	p.R23H		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	23					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)	p.R23H(1)		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)		CGCCCGGTGCGCTGCTGCTTC	0.731																																							0											1	Substitution - Missense(1)	endometrium(1)											15	17	17					5																	121187726		2199	4288	6487	SO:0001583	missense	0			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.68G>A	5.37:g.121187726G>A	ENSP00000313691:p.Arg23His			Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.R23H	ENST00000321339.1	37	c.68	CCDS4128.1	5	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598678	0.28445	.	.	ENSG00000181867	ENST00000321339	T	0.64260	-0.09	2.95	0.964	0.19655	.	.	.	.	.	T	0.39708	0.1088	L	0.27053	0.805	0.09310	N	1	P	0.49358	0.923	B	0.35859	0.212	T	0.24190	-1.0167	9	0.48119	T	0.1	.	5.0449	0.14479	0.0:0.2238:0.5219:0.2543	.	23	Q8N4E7	FTMT_HUMAN	H	23	ENSP00000313691:R23H	ENSP00000313691:R23H	R	+	2	0	FTMT	121215625	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.102000	0.31050	0.217000	0.20800	-0.172000	0.13284	CGC	0	NULL		0.731	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	protein_coding	OTTHUMT00000250884.1	18	21	0	0.00	0	0	G	NM_177478	rs552079349	G->A		121187726	1	no_errors	ENST00000321339	ensembl	human	known	74_37	missense	25	30	7.41	6.25	2	2	SNP	0	A	A	121187726	G	A	121187726	3	1	41	1	0	0	0	0	1	0	0	0	6085	1087	38	1	70	1	FTMT	5	121187726	Missense_Mutation	SNP	G	TCGA-X7-A8DF-01A-11D-A423-09		121187726	59727534	1	460											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	367	148	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	292	124	10.37	6.77	34	9	SNP	1	A	A	74146970	T	A	74146970	3	1	41	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-X7-A8DF-01A-11D-A423-09		74146970	84991693	2	461											
LYPLA1	10434	genome.wustl.edu	37	chr8	55014358	55014358	+	Frame_Shift_Del	DEL	G	G	-																															cgggcacgatggcgggcagcGgggttgacatgttattgccg																										TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr8:55014358delG	ENST00000316963.3	-	1	219	c.26delC	c.(25-27)ccgfs	p.P9fs	LYPLA1_ENST00000343231.6_Frame_Shift_Del_p.P9fs|LYPLA1_ENST00000522007.1_Frame_Shift_Del_p.P9fs|LYPLA1_ENST00000519926.1_5'UTR	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	9					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GGCGGGCAGCGGGGTTGACAT	0.731																																							0											0													12	11	11					8																	55014358		2177	4254	6431	SO:0001589	frameshift_variant	0			AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.26delC	8.37:g.55014358delG	ENSP00000320043:p.Pro9fs		O43202|Q9UQF9	Frame_Shift_Del	DEL	pfam_PLipase/COase/thioEstase,pfam_AB_hydrolase_3	p.P9fs	ENST00000316963.3	37	c.26	CCDS6157.1	8																																																																																			0	NULL		0.731	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLA1	protein_coding	OTTHUMT00000378238.1	11	6	0	0.00	0	0	G		0	0		55014358	-1	no_errors	ENST00000316963	ensembl	human	known	74_37	frame_shift_del	4	6	33.33	0.00	2	0	DEL	0.992	0	-	55014358	G	-	55014358	7	5	41	1	0	1	0	1	0	0	0	0	9116	1116	39	0	702	0	LYPLA1	8	55014358	Frame_Shift_Del	DEL	G	TCGA-X7-A8DF-01A-11D-A423-09		55014358	91349664	3	462											
MRGPRX3	117195	genome.wustl.edu	37	chr11	18159677	18159677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggagggtggcttcctCaggaaaccctggagctgtcg	8	8	16	9	1	1	0	1	0	0	0	3	3	2	3	2	6	2	2	2	6	2	1	rs553083456		TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr11:18159677C>A	ENST00000396275.2	+	3	1289	c.928C>A	c.(928-930)Cag>Aag	p.Q310K		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	310						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						GTGGCTTCCTCAGGAAACCCT	0.572																																							0											0													39	42	41					11																	18159677		2200	4293	6493	SO:0001583	missense	0				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.928C>A	11.37:g.18159677C>A	ENSP00000379571:p.Gln310Lys		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Q310K	ENST00000396275.2	37	c.928	CCDS7830.1	11	.	.	.	.	.	.	.	.	.	.	C	4.585	0.108689	0.08780	.	.	ENSG00000179826	ENST00000396275	T	0.22134	1.97	1.3	-1.19	0.09585	.	1.321610	0.05147	N	0.495389	T	0.19644	0.0472	L	0.40543	1.245	0.09310	N	1	B	0.27117	0.168	B	0.34991	0.193	T	0.40739	-0.9547	10	0.25106	T	0.35	.	7.5212	0.27629	0.0:0.7236:0.2764:0.0	.	310	Q96LB0	MRGX3_HUMAN	K	310	ENSP00000379571:Q310K	ENSP00000379571:Q310K	Q	+	1	0	MRGPRX3	18116253	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-0.701000	0.05075	-0.341000	0.08376	-1.153000	0.01818	CAG	0	NULL		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	protein_coding	OTTHUMT00000389767.1	43	17	0	0.00	0	0	C	NM_054031	0	0		18159677	1	no_errors	ENST00000396275	ensembl	human	known	74_37	missense	34	9	10.53	0.00	4	0	SNP	0.172	A	A	18159677	C	A	18159677	3	1	41	1	0	0	0	0	1	0	0	0	9768	827	29	5	930	5	MRGPRX3	11	18159677	Missense_Mutation	SNP	C	TCGA-X7-A8DF-01A-11D-A423-09		18159677	116846839	4	463											
C12orf10	60314	genome.wustl.edu	37	chr12	53700879	53700879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacccgagagggtgccttGagcatggcccgtgccacctt	7	7	12	15	2	0	2	0	1	0	1	0	3	0	2	5	2	3	1	5	2	0	2			TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr12:53700879G>T	ENST00000267103.5	+	7	1129	c.1077G>T	c.(1075-1077)ttG>ttT	p.L359F	C12orf10_ENST00000549488.1_Missense_Mutation_p.L196F|C12orf10_ENST00000548632.1_Missense_Mutation_p.L284F|AAAS_ENST00000549983.1_5'Flank	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	359					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						AGGGTGCCTTGAGCATGGCCC	0.572																																							0											0													79	77	78					12																	53700879		2202	4300	6502	SO:0001583	missense	0			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.1077G>T	12.37:g.53700879G>T	ENSP00000267103:p.Leu359Phe			Missense_Mutation	SNP	pfam_Met-dep_prot_hydro	p.L196F	ENST00000267103.5	37	c.588	CCDS31810.1	12	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227917	0.58777	.	.	ENSG00000139637	ENST00000267103;ENST00000548845;ENST00000545214;ENST00000548632;ENST00000549488	T;T;T	0.52983	0.64;0.64;0.64	5.03	1.94	0.25998	.	0.000000	0.64402	D	0.000005	T	0.62011	0.2393	M	0.81682	2.555	0.58432	D	0.999995	D;D	0.65815	0.995;0.96	P;P	0.62435	0.902;0.81	T	0.61476	-0.7055	10	0.72032	D	0.01	-13.6671	7.3838	0.26870	0.3777:0.0:0.6223:0.0	.	308;359	F5H641;Q9HB07	.;MYG1_HUMAN	F	359;244;308;284;196	ENSP00000267103:L359F;ENSP00000450270:L284F;ENSP00000448433:L196F	ENSP00000267103:L359F	L	+	3	2	C12orf10	51987146	1.000000	0.71417	0.843000	0.33291	0.925000	0.55904	1.293000	0.33353	0.308000	0.22923	-0.140000	0.14226	TTG	0	pfam_Met-dep_prot_hydro		0.572	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C12orf10	protein_coding	OTTHUMT00000406906.1	55	54	0	0.00	0	0	G	NM_021640	0	0		53700879	1	no_errors	ENST00000549488	ensembl	human	putative	74_37	missense	65	39	7.14	4.88	5	2	SNP	1	T	T	53700879	G	T	53700879	3	4	41	1	0	0	0	0	1	0	0	0	1674	1281	45	5	1103	5	C12orf10	12	53700879	Missense_Mutation	SNP	G	TCGA-X7-A8DF-01A-11D-A423-09		53700879	80151016	5	464											
ATRN	8455	genome.wustl.edu	37	chr20	3451967	3451969	+	In_Frame_Del	DEL	GCT	GCT	-																															ctgttgttgctctcgccgccGctgctgctgctgctgctgcc																										TCGA-X7-A8DF-01A-11D-A423-09	TCGA-X7-A8DF-10A-01D-A426-09	GCT	GCT	GCT	-	GCT	GCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	720ada07-ff74-4090-84e6-25c014e41536	23eae786-93b1-4d55-b2a1-db2a8603e710	g.chr20:3451967_3451969delGCT	ENST00000262919.5	+	1	281_283	c.213_215delGCT	c.(211-216)ccgctg>ccg	p.L77del	ATRN_ENST00000446916.2_In_Frame_Del_p.L77del	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	77	Leu-rich.				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						tctcgccgccgctgctgctgctg	0.764																																							0											0									,,	17,913		5,7,453					,,	-0.9	0			1	76,1972		27,22,975	no	coding,coding,intron	ATRN	NM_139322.2,NM_139321.2,NM_001207047.1	,,	32,29,1428	A1A1,A1R,RR		3.7109,1.828,3.1229	,,	,,		93,2885				SO:0001651	inframe_deletion	0			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.213_215delGCT	20.37:g.3451976_3451978delGCT	ENSP00000262919:p.Leu77del		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	In_Frame_Del	DEL	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.L75in_frame_del	ENST00000262919.5	37	c.213_215	CCDS13053.1	20																																																																																			0	NULL		0.764	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	protein_coding	OTTHUMT00000077740.2	25	1	0	0.00	0	0	GCT	NM_139321	0	0		3451969	1	no_errors	ENST00000262919	ensembl	human	known	74_37	in_frame_del	6	10	25	23.08	2	3	DEL	0.487:0.505:0.496	0	-	3451969	GCT	-	3451967	7	5	41	1	0	1	0	1	0	0	0	0	1206	1074	38	0	215	0	ATRN	20	3451967	In_Frame_Del	DEL	GCT	TCGA-X7-A8DF-01A-11D-A423-09		3451967	59573553	6	465											
TTN	7273	genome.wustl.edu	37	chr2	179640733	179640733	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactgaagctttcctggtTcatgtacgtgaaactcaggc	11	11	9	10	1	2	2	2	2	0	0	3	2	3	2	1	2	4	3	1	2	4	3			TCGA-X7-A8DG-01A-11D-A423-09	TCGA-X7-A8DG-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2a7bec3f-c701-4409-83f7-36eafa58f440	998af87c-ef03-4511-bf42-f7eb7711659c	g.chr2:179640733T>G	ENST00000591111.1	-	28	6082	c.5858A>C	c.(5857-5859)gAa>gCa	p.E1953A	TTN_ENST00000589042.1_Missense_Mutation_p.E1953A|TTN_ENST00000342992.6_Missense_Mutation_p.E1953A|TTN_ENST00000359218.5_Missense_Mutation_p.E1907A|TTN_ENST00000460472.2_Missense_Mutation_p.E1907A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E1953A|TTN_ENST00000342175.6_Missense_Mutation_p.E1907A|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12780					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)			CTTTCCTGGTTCATGTACGTG	0.423																																							0											0													168	174	172					2																	179640733		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5858A>C	2.37:g.179640733T>G	ENSP00000465570:p.Glu1953Ala		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.E1953A	ENST00000591111.1	37	c.5858		2	.	.	.	.	.	.	.	.	.	.	T	9.000	0.979942	0.18812	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65916	-0.18;0.06;0.04;0.04;0.18	5.1	5.1	0.69264	Ribonuclease H-like (1);	.	.	.	.	T	0.65760	0.2722	L	0.32530	0.975	0.32394	N	0.55282	P;P;P;D;D	0.59767	0.91;0.91;0.91;0.976;0.986	B;B;B;P;P	0.56163	0.388;0.388;0.388;0.541;0.793	T	0.74469	-0.3655	9	0.87932	D	0	.	14.8848	0.70560	0.0:0.0:0.0:1.0	.	1907;1907;1907;1953;1953	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	A	1953;1907;1907;1907;1907;1953	ENSP00000343764:E1953A;ENSP00000434586:E1907A;ENSP00000340554:E1907A;ENSP00000352154:E1907A;ENSP00000354117:E1953A	ENSP00000340554:E1907A	E	-	2	0	TTN	179348978	1.000000	0.71417	0.966000	0.40874	0.860000	0.49131	6.222000	0.72249	1.932000	0.55993	0.496000	0.49642	GAA	0	superfamily_RNaseH-like_dom		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	55	260	0	0.38	0	1	T	NM_133378	0	0		179640733	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	49	307	16.95	5.25	10	17	SNP	1	G	G	179640733	T	G	179640733	3	3	42	1	0	0	0	0	1	0	0	0	16732	1783	62	5	105470	5	TTN	2	179640733	Missense_Mutation	SNP	T	TCGA-X7-A8DG-01A-11D-A423-09		179640733	63558640	1	466											
AK5	26289	genome.wustl.edu	37	chr1	77876675	77876675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcccccagtttgatgccGaccgcgatgaggatgaggtg	8	10	13	10	3	0	3	0	3	0	0	1	6	1	4	4	2	1	1	4	2	0	2			TCGA-X7-A8DI-01A-11D-A423-09	TCGA-X7-A8DI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c6f718ae-772d-43b5-8855-2c44b375d61e	8a785b6e-4abe-4c94-8e68-55b39e06c0b5	g.chr1:77876675G>A	ENST00000354567.2	+	7	1164	c.901G>A	c.(901-903)Gac>Aac	p.D301N	AK5_ENST00000344720.5_Missense_Mutation_p.D275N	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	301	Adenylate kinase 1.				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						GTTTGATGCCGACCGCGATGA	0.413																																							0											0													149	125	133					1																	77876675		2203	4300	6503	SO:0001583	missense	0			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.901G>A	1.37:g.77876675G>A	ENSP00000346577:p.Asp301Asn		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.D301N	ENST00000354567.2	37	c.901	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241658	0.79912	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.71817	-0.6;-0.6	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.71247	0.3317	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.68168	-0.5480	10	0.36615	T	0.2	-9.3618	18.0995	0.89501	0.0:0.0:1.0:0.0	.	301	Q9Y6K8	KAD5_HUMAN	N	301;275	ENSP00000346577:D301N;ENSP00000341430:D275N	ENSP00000341430:D275N	D	+	1	0	AK5	77649263	1.000000	0.71417	0.969000	0.41365	0.406000	0.30931	7.840000	0.86819	2.890000	0.99128	0.655000	0.94253	GAC	0	superfamily_P-loop_NTPase		0.413	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	protein_coding	OTTHUMT00000026993.4	53	325	0	0.00	0	0	G	NM_174858	0	0		77876675	1	no_errors	ENST00000354567	ensembl	human	known	74_37	missense	74	180	7.5	7.22	6	14	SNP	1	A	A	77876675	G	A	77876675	3	1	43	1	0	0	0	0	1	0	0	0	443	1058	37	2	927	2	AK5	1	77876675	Missense_Mutation	SNP	G	TCGA-X7-A8DI-01A-11D-A423-09		77876675	171373946	1	467											
CCNL1	57018	genome.wustl.edu	37	chr3	156876755	156876755	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaagattaatacaagccaTagcaacaatctgaaagaacc	19	7	6	9	0	1	3	0	1	1	2	1	3	1	3	2	0	6	2	2	0	9	3			TCGA-X7-A8DI-01A-11D-A423-09	TCGA-X7-A8DI-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c6f718ae-772d-43b5-8855-2c44b375d61e	8a785b6e-4abe-4c94-8e68-55b39e06c0b5	g.chr3:156876755T>C	ENST00000295926.3	-	3	506	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	CCNL1_ENST00000295925.4_Missense_Mutation_p.M130V|CCNL1_ENST00000461804.1_Missense_Mutation_p.M130V	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	130	Cyclin-like 1.				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)			ATACAAGCCATAGCAACAATC	0.358																																							0											0													106	102	103					3																	156876755		2203	4300	6503	SO:0001583	missense	0			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.388A>G	3.37:g.156876755T>C	ENSP00000295926:p.Met130Val		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.M130V	ENST00000295926.3	37	c.388	CCDS3178.1	3	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290392	0.59976	.	.	ENSG00000163660	ENST00000461804;ENST00000295926;ENST00000295925	T;T;T	0.08896	3.04;3.04;3.04	5.84	5.84	0.93424	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	M	0.76433	2.335	0.80722	D	1	P;P	0.51933	0.949;0.877	P;P	0.55222	0.771;0.74	T	0.00441	-1.1737	10	0.66056	D	0.02	-18.7294	16.2282	0.82315	0.0:0.0:0.0:1.0	.	130;130	Q9UK58;C9JPL0	CCNL1_HUMAN;.	V	130	ENSP00000420277:M130V;ENSP00000295926:M130V;ENSP00000295925:M130V	ENSP00000295925:M130V	M	-	1	0	CCNL1	158359449	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	7.544000	0.82117	2.227000	0.72691	0.533000	0.62120	ATG	0	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L		0.358	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	protein_coding	OTTHUMT00000351859.1	32	376	0	0.00	0	0	T	NM_020307	0	0		156876755	-1	no_errors	ENST00000295926	ensembl	human	known	74_37	missense	57	220	10.94	5.96	7	14	SNP	1	C	C	156876755	T	C	156876755	3	2	43	1	0	0	0	0	1	0	0	0	2931	1406	49	3	1228	3	CCNL1	3	156876755	Missense_Mutation	SNP	T	TCGA-X7-A8DI-01A-11D-A423-09		156876755	41145675	2	468											
UGT2B4	7363	genome.wustl.edu	37	chr4	70361046	70361046	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactatgcttttcaattgcGtagccaggagagaagcggag	11	9	12	9	2	1	1	1	0	0	1	1	4	1	3	2	2	4	2	2	2	4	5	rs370531105		TCGA-X7-A8DI-01A-11D-A423-09	TCGA-X7-A8DI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c6f718ae-772d-43b5-8855-2c44b375d61e	8a785b6e-4abe-4c94-8e68-55b39e06c0b5	g.chr4:70361046G>A	ENST00000305107.6	-	1	580	c.534C>T	c.(532-534)taC>taT	p.Y178Y	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Silent_p.Y178Y|UGT2B4_ENST00000381096.3_Silent_p.Y42Y	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	178					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TTTCAATTGCGTAGCCAGGAG	0.453																																							0											0								G		1,4361	2.1+/-5.4	0,1,2180	64	64	64		534	-4.8	0	4		64	0,8588		0,0,4294	no	coding-synonymous	UGT2B4	NM_021139.2		0,1,6474	AA,AG,GG		0.0,0.0229,0.0077		178/529	70361046	1,12949	2181	4294	6475	SO:0001819	synonymous_variant	0			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.534C>T	4.37:g.70361046G>A			A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.Y178	ENST00000305107.6	37	c.534	CCDS43234.1	4																																																																																			0	pfam_UDP_glucos_trans		0.453	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B4	protein_coding	OTTHUMT00000365526.1	51	238	0	0.00	0	0	G	NM_021139	rs370531105	G->A		70361046	-1	no_errors	ENST00000305107	ensembl	human	known	74_37	silent	67	173	9.46	7.45	7	14	SNP	0	A	A	70361046	G	A	70361046	2	1	43	1	0	0	0	0	0	0	0	1	16958	1140	40	1		1	UGT2B4	4	70361046	Silent	SNP	G	TCGA-X7-A8DI-01A-11D-A423-09		70361046	120793230	3	469											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-X7-A8DI-01A-11D-A423-09	TCGA-X7-A8DI-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c6f718ae-772d-43b5-8855-2c44b375d61e	8a785b6e-4abe-4c94-8e68-55b39e06c0b5	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	309	204	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	415	130	8.19	5.04	37	7	SNP	1	A	A	74146970	T	A	74146970	3	1	43	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-X7-A8DI-01A-11D-A423-09		74146970	84991693	4	470											
CDH20	28316	genome.wustl.edu	37	chr18	59206323	59206323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgaatgacaatgctcCagagttccccagattctatg	12	11	9	9	0	1	5	0	2	1	3	3	5	3	5	3	0	1	2	3	0	3	3			TCGA-X7-A8DI-01A-11D-A423-09	TCGA-X7-A8DI-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c6f718ae-772d-43b5-8855-2c44b375d61e	8a785b6e-4abe-4c94-8e68-55b39e06c0b5	g.chr18:59206323C>A	ENST00000262717.4	+	9	1873	c.1475C>A	c.(1474-1476)cCa>cAa	p.P492Q	CDH20_ENST00000536675.2_Missense_Mutation_p.P492Q|CDH20_ENST00000538374.1_Missense_Mutation_p.P492Q			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	492	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)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GACAATGCTCCAGAGTTCCCC	0.478																																							0											0													183	167	173					18																	59206323		2203	4300	6503	SO:0001583	missense	0			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.1475C>A	18.37:g.59206323C>A	ENSP00000262717:p.Pro492Gln		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P492Q	ENST00000262717.4	37	c.1475	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809741	0.90707	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.72505	-0.66;-0.66;-0.66	5.77	5.77	0.91146	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92293	0.7555	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95382	0.8474	10	0.87932	D	0	.	19.9992	0.97404	0.0:1.0:0.0:0.0	.	492	Q9HBT6	CAD20_HUMAN	Q	492	ENSP00000444767:P492Q;ENSP00000442226:P492Q;ENSP00000262717:P492Q	ENSP00000262717:P492Q	P	+	2	0	CDH20	57357303	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.414000	0.80117	2.724000	0.93272	0.643000	0.83706	CCA	0	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.478	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	protein_coding	OTTHUMT00000256141.2	105	337	0	0.00	0	0	C	NM_031891	0	0		59206323	1	no_errors	ENST00000262717	ensembl	human	known	74_37	missense	106	238	10.17	6.30	12	16	SNP	1	A	A	59206323	C	A	59206323	3	1	43	1	0	0	0	0	1	0	0	0	3106	594	21	5	1505	5	CDH20	18	59206323	Missense_Mutation	SNP	C	TCGA-X7-A8DI-01A-11D-A423-09		59206323	18870925	5	471											
TNN	63923	genome.wustl.edu	37	chr1	175046945	175046945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagtgtagtgcccagcgcTgctgccagggagtcactggt	8	8	14	11	1	1	0	1	0	0	0	1	1	1	1	2	2	5	3	2	2	2	1			TCGA-X7-A8DJ-01A-11D-A423-09	TCGA-X7-A8DJ-10B-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	71043725-cf77-4331-8fdf-d52b86ad1cb8	69c7c375-191a-4a66-9211-22806cd9bdc1	g.chr1:175046945T>A	ENST00000239462.4	+	2	504	c.391T>A	c.(391-393)Tgc>Agc	p.C131S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	131					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)		TGCCCAGCGCTGCTGCCAGGG	0.552																																							0											0													43	47	45					1																	175046945		2203	4300	6503	SO:0001583	missense	0			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.391T>A	1.37:g.175046945T>A	ENSP00000239462:p.Cys131Ser		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.C131S	ENST00000239462.4	37	c.391	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682554	0.68157	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.33865	1.39	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.86097	2.795	0.49798	D	0.999824	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.70436	-0.4872	10	0.87932	D	0	.	13.8698	0.63612	0.0:0.0:0.0:1.0	.	131;131	B3KXB6;Q9UQP3	.;TENN_HUMAN	S	131	ENSP00000239462:C131S	ENSP00000239462:C131S	C	+	1	0	TNN	173313568	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	5.108000	0.64609	2.103000	0.63969	0.533000	0.62120	TGC	0	NULL		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	protein_coding	OTTHUMT00000084422.1	24	121	0	0.00	0	0	T	XM_040527	0	0		175046945	1	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	15	71	25	8.97	5	7	SNP	1	A	A	175046945	T	A	175046945	3	1	44	1	0	0	0	0	1	0	0	0	16320	1580	55	5	393	5	TNN	1	175046945	Missense_Mutation	SNP	T	TCGA-X7-A8DJ-01A-11D-A423-09		175046945	74203676	1	472											
NBAS	51594	genome.wustl.edu	37	chr2	15542383	15542383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagatgcactctagtgctaTtgccatcagttggtcctgat	9	14	9	9	0	2	2	1	1	1	1	3	2	3	2	2	1	3	3	2	1	3	5	rs538790933		TCGA-X7-A8DJ-01A-11D-A423-09	TCGA-X7-A8DJ-10B-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	71043725-cf77-4331-8fdf-d52b86ad1cb8	69c7c375-191a-4a66-9211-22806cd9bdc1	g.chr2:15542383T>C	ENST00000281513.5	-	26	3005	c.2980A>G	c.(2980-2982)Ata>Gta	p.I994V	NBAS_ENST00000441750.1_Missense_Mutation_p.I874V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	994					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCTAGTGCTATTGCCATCAGT	0.363																																							0											0													149	142	144					2																	15542383		2203	4300	6503	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2980A>G	2.37:g.15542383T>C	ENSP00000281513:p.Ile994Val		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.I994V	ENST00000281513.5	37	c.2980	CCDS1685.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.145|8.145	0.785989|0.785989	0.16189|0.16189	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755|ENST00000429842	T;T;T|.	0.17213|.	2.29;2.29;2.29|.	5.65|5.65	-2.22|-2.22	0.06952|0.06952	Secretory pathway Sec39 (1);|.	0.444927|.	0.25845|.	N|.	0.027935|.	T|T	0.27027|0.27027	0.0662|0.0662	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	B;B|.	0.23591|.	0.088;0.0|.	B;B|.	0.25140|.	0.058;0.003|.	T|T	0.30534|0.30534	-0.9975|-0.9975	10|5	0.87932|.	D|.	0|.	.|.	11.7757|11.7757	0.51985|0.51985	0.0:0.1873:0.0:0.8127|0.0:0.1873:0.0:0.8127	.|.	874;994|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|S	874;994;41|91	ENSP00000413201:I874V;ENSP00000281513:I994V;ENSP00000396501:I41V|.	ENSP00000281513:I994V|.	I|N	-|-	1|2	0|0	NBAS|NBAS	15459834|15459834	0.001000|0.001000	0.12720|0.12720	0.012000|0.012000	0.15200|0.15200	0.980000|0.980000	0.70556|0.70556	-0.091000|-0.091000	0.11146|0.11146	-0.374000|-0.374000	0.07967|0.07967	0.533000|0.533000	0.62120|0.62120	ATA|AAT	0	pfam_Sec39		0.363	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	protein_coding	OTTHUMT00000241638.1	76	271	0	0.00	0	0	T	NM_015909	rs538790933	T->C		15542383	-1	no_errors	ENST00000281513	ensembl	human	known	74_37	missense	80	159	9.09	5.88	8	10	SNP	0.001	C	C	15542383	T	C	15542383	3	2	44	1	0	0	0	0	1	0	0	0	10186	1493	52	3	4243	3	NBAS	2	15542383	Missense_Mutation	SNP	T	TCGA-X7-A8DJ-01A-11D-A423-09		15542383	227656990	2	473											
SP5	389058	genome.wustl.edu	37	chr2	171572868	171572868	+	Frame_Shift_Del	DEL	C	C	-																															gccagccgggcgcggcggcgCccccggacttcctgcaggtg																										TCGA-X7-A8DJ-01A-11D-A423-09	TCGA-X7-A8DJ-10B-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	71043725-cf77-4331-8fdf-d52b86ad1cb8	69c7c375-191a-4a66-9211-22806cd9bdc1	g.chr2:171572868delC	ENST00000375281.3	+	2	313	c.151delC	c.(151-153)cccfs	p.P52fs	SP5_ENST00000487037.1_3'UTR|AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	52					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|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)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						cgcggcggcgcccccggACTT	0.761																																							0											0													9	12	11					2																	171572868		1837	3799	5636	SO:0001589	frameshift_variant	0				CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.151delC	2.37:g.171572868delC	ENSP00000364430:p.Pro52fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P52fs	ENST00000375281.3	37	c.151	CCDS33322.1	2																																																																																			0	NULL		0.761	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP5	protein_coding	OTTHUMT00000333670.1	18	11	0	0.00	0	0	C	XM_371581	0	0		171572868	1	no_errors	ENST00000375281	ensembl	human	known	74_37	frame_shift_del	4	10	42.86	0.00	3	0	DEL	0.993	0	-	171572868	C	-	171572868	7	5	44	1	0	1	0	1	0	0	0	0	14967	739	26	0	157	0	SP5	2	171572868	Frame_Shift_Del	DEL	C	TCGA-X7-A8DJ-01A-11D-A423-09	156030485	171572868	71626505	3	474											
GRM7	2917	genome.wustl.edu	37	chr3	7782044	7782044	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttctaatttttctttcagGccctgctgcaaaaaagaagt	11	15	6	9	0	3	1	1	0	2	1	3	1	3	1	1	1	2	2	1	1	5	5			TCGA-X7-A8DJ-01A-11D-A423-09	TCGA-X7-A8DJ-10B-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	71043725-cf77-4331-8fdf-d52b86ad1cb8	69c7c375-191a-4a66-9211-22806cd9bdc1	g.chr3:7782044G>C	ENST00000357716.4	+	10	2973	c.2699G>C	c.(2698-2700)aGc>aCc	p.S900T	GRM7_ENST00000486284.1_3'UTR	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	900					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						TTTCTTTCAGGCCCTGCTGCA	0.378																																							0											0													98	93	95					3																	7782044		1850	4087	5937	SO:0001630	splice_region_variant	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2699-1G>C	3.37:g.7782044G>C			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.S900T	ENST00000357716.4	37	c.2699	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	G	4.408	0.075343	0.08485	.	.	ENSG00000196277	ENST00000357716	D	0.88896	-2.44	5.65	5.65	0.86999	.	.	.	.	.	D	0.82788	0.5113	L	0.27053	0.805	0.80722	D	1	B	0.18741	0.03	B	0.06405	0.002	T	0.76833	-0.2813	8	.	.	.	.	18.298	0.90153	0.0:0.0:1.0:0.0	.	900	Q14831	GRM7_HUMAN	T	900	ENSP00000350348:S900T	.	S	+	2	0	GRM7	7757044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.907000	0.87430	2.686000	0.91538	0.650000	0.86243	AGC	0	prints_GPCR_3_mtglu_rcpt_4		0.378	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	protein_coding	OTTHUMT00000246895.3	44	340	0	0.00	0	0	G	NM_000844	0	0	Missense_Mutation	7782044	1	no_errors	ENST00000357716	ensembl	human	known	74_37	missense	36	258	16.28	7.19	7	20	SNP	1	C	C	7782044	G	C	7782044	5	2	44	1	0	0	0	0	0	0	1	0	6802	1217	42	5	2812	5	GRM7	3	7782044	Splice_Site	SNP	G	TCGA-X7-A8DJ-01A-11D-A423-09		7782044	190240386	4	475											
NR2C2	7182	genome.wustl.edu	37	chr3	15084513	15084513	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatcaccggagccagtctaTagcgcaaaccacacacctgc	13	5	8	15	2	2	1	1	0	1	1	2	2	2	2	4	1	4	1	4	1	3	2			TCGA-X7-A8DJ-01A-11D-A423-09	TCGA-X7-A8DJ-10B-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	71043725-cf77-4331-8fdf-d52b86ad1cb8	69c7c375-191a-4a66-9211-22806cd9bdc1	g.chr3:15084513T>C	ENST00000425241.1	+	14	2151	c.1789T>C	c.(1789-1791)Tag>Cag	p.*597Q	NR2C2_ENST00000393102.3_Nonstop_Mutation_p.*597Q|NR2C2_ENST00000323373.6_Nonstop_Mutation_p.*616Q|MRPS25_ENST00000496484.1_5'UTR|NR2C2_ENST00000406272.2_Nonstop_Mutation_p.*597Q|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	0					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						AGCCAGTCTATAGCGCAAACC	0.448																																							0											0													80	69	73					3																	15084513		2203	4300	6503	SO:0001578	stop_lost	0			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.1789T>C	3.37:g.15084513T>C	ENSP00000388387:p.*597Glnext*35		A8K3H5|B6ZGT8|P55092	Nonstop_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.*616Q	ENST00000425241.1	37	c.1846		3	.	.	.	.	.	.	.	.	.	.	T	13.90	2.374075	0.42105	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1297	0.81418	0.0:0.0:0.0:1.0	.	.	.	.	Q	597;616;597;597	.	.	X	+	1	0	NR2C2	15059517	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	5.204000	0.65180	2.270000	0.75569	0.460000	0.39030	TAG	0	NULL		0.448	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	protein_coding	OTTHUMT00000340729.1	27	252	0	0.00	0	0	T	NM_003298	0	0		15084513	1	no_errors	ENST00000323373	ensembl	human	known	74_37	nonstop	29	182	9.38	7.11	3	14	SNP	1	C	C	15084513	T	C	15084513	4	2	44	1	0	0	0	0	0	0	0	0	10623	1419	49	3	1900	3	NR2C2	3	15084513	Nonstop_Mutation	SNP	T	TCGA-X7-A8DJ-01A-11D-A423-09	7302469	15084513	182937917	5	476											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-X7-A8DJ-01A-11D-A423-09	TCGA-X7-A8DJ-10B-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	71043725-cf77-4331-8fdf-d52b86ad1cb8	69c7c375-191a-4a66-9211-22806cd9bdc1	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	302	141	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	307	102	10.66	6.42	37	7	SNP	1	A	A	74146970	T	A	74146970	3	1	44	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-X7-A8DJ-01A-11D-A423-09		74146970	84991693	6	477											
TRIM3	10612	genome.wustl.edu	37	chr11	6477334	6477334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttgctgtctgctaccaCgatgcggccgctgctggctg	3	12	14	12	3	1	0	0	0	1	0	1	1	1	0	2	2	5	7	2	2	1	3			TCGA-X7-A8DJ-01A-11D-A423-09	TCGA-X7-A8DJ-10B-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	71043725-cf77-4331-8fdf-d52b86ad1cb8	69c7c375-191a-4a66-9211-22806cd9bdc1	g.chr11:6477334C>T	ENST00000525074.1	-	7	1895	c.1501G>A	c.(1501-1503)Gtg>Atg	p.V501M	TRIM3_ENST00000529058.1_5'Flank|TRIM3_ENST00000345851.3_Missense_Mutation_p.V501M|TRIM3_ENST00000537602.1_Missense_Mutation_p.V423M|TRIM3_ENST00000536344.1_Missense_Mutation_p.V382M|TRIM3_ENST00000359518.3_Missense_Mutation_p.V501M	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	501					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)		TCTGCTACCACGATGCGGCCG	0.502																																					Melanoma(6;5 510 1540 25169 29084)		0											0													114	104	108					11																	6477334		2201	4296	6497	SO:0001583	missense	0			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.1501G>A	11.37:g.6477334C>T	ENSP00000433102:p.Val501Met		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.V501M	ENST00000525074.1	37	c.1501	CCDS7764.1	11	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589732	0.86851	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.66	5.66	0.87406	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	M	0.62016	1.91	0.53005	D	0.999967	D;D	0.63046	0.99;0.992	P;P	0.58660	0.674;0.843	T	0.82833	-0.0262	10	0.66056	D	0.02	-18.4722	13.9946	0.64388	0.0:0.8483:0.1517:0.0	.	382;501	F5H2Q8;O75382	.;TRIM3_HUMAN	M	501;501;501;501;490;423;501;382	ENSP00000433102:V501M;ENSP00000340797:V501M;ENSP00000441091:V423M;ENSP00000352508:V501M;ENSP00000445460:V382M	ENSP00000337094:V490M	V	-	1	0	TRIM3	6433910	0.817000	0.29147	1.000000	0.80357	0.988000	0.76386	1.668000	0.37481	2.667000	0.90743	0.563000	0.77884	GTG	0	pfam_NHL_repeat,pfscan_NHL_repeat_subgr		0.502	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	protein_coding	OTTHUMT00000384224.2	54	265	0	0.00	0	0	C	NM_006458	0	0		6477334	-1	no_errors	ENST00000345851	ensembl	human	known	74_37	missense	47	147	9.62	13.02	5	22	SNP	1	T	T	6477334	C	T	6477334	3	4	44	1	0	0	0	0	1	0	0	0	16501	536	19	1	757	1	TRIM3	11	6477334	Missense_Mutation	SNP	C	TCGA-X7-A8DJ-01A-11D-A423-09		6477334	128529182	7	478											
UNC93B1	81622	genome.wustl.edu	37	chr11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagcgtcaccagcagcaCcgccagcttagcctgggcgt	8	5	11	17	3	1	0	1	0	0	0	1	0	1	0	5	1	5	3	5	1	1	1	rs4014596		TCGA-X7-A8DJ-01A-11D-A423-09	TCGA-X7-A8DJ-10B-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	71043725-cf77-4331-8fdf-d52b86ad1cb8	69c7c375-191a-4a66-9211-22806cd9bdc1	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					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)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																							0											1	Substitution - Missense(1)	skin(1)											2	2	2					11																	67759316		806	1754	2560	SO:0001583	missense	0			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.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V498M	ENST00000227471.2	37	c.1492		11	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG	0	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		23	0	0	0.00	0	0	C	NM_030930	rs4014596	C->T		67759316	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	21	0	19.23	0.00	5	0	SNP	0.997	T	T	67759316	C	T	67759316	3	4	44	1	0	0	0	0	1	0	0	0	16994	507	18	3	302	3	UNC93B1	11	67759316	Missense_Mutation	SNP	C	TCGA-X7-A8DJ-01A-11D-A423-09	61281982	67759316	67247200	8	479											
OR8B3	390271	genome.wustl.edu	37	chr11	124266673	124266673	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaccacctcgttgacatagGtgctggtgcaggaaagctgg	10	8	13	10	1	0	1	0	1	0	0	1	2	0	2	2	4	4	4	2	4	3	2			TCGA-X7-A8DJ-01A-11D-A423-09	TCGA-X7-A8DJ-10B-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	71043725-cf77-4331-8fdf-d52b86ad1cb8	69c7c375-191a-4a66-9211-22806cd9bdc1	g.chr11:124266673G>C	ENST00000354597.3	-	1	591	c.575C>G	c.(574-576)aCc>aGc	p.T192S		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, 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)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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)		GTTGACATAGGTGCTGGTGCA	0.448																																							0											0													73	76	75					11																	124266673		2201	4299	6500	SO:0001583	missense	0			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.575C>G	11.37:g.124266673G>C	ENSP00000346611:p.Thr192Ser		Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T192S	ENST00000354597.3	37	c.575	CCDS31709.1	11	.	.	.	.	.	.	.	.	.	.	N	16.09	3.024803	0.54683	.	.	ENSG00000196661	ENST00000354597	T	0.00207	8.55	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.00384	0.0012	M	0.73598	2.24	0.25555	N	0.98705	P	0.44044	0.825	P	0.53102	0.718	T	0.39121	-0.9629	10	0.62326	D	0.03	.	10.9176	0.47146	0.0962:0.0:0.9038:0.0	.	192	Q8NGG8	OR8B3_HUMAN	S	192	ENSP00000346611:T192S	ENSP00000346611:T192S	T	-	2	0	OR8B3	123771883	0.130000	0.22417	1.000000	0.80357	0.915000	0.54546	2.966000	0.49208	2.316000	0.78162	0.555000	0.69702	ACC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.448	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B3	protein_coding	OTTHUMT00000387291.1	63	114	0	0.87	0	1	G	NM_001005467	0	0		124266673	-1	no_errors	ENST00000354597	ensembl	human	known	74_37	missense	53	65	8.62	13.33	5	10	SNP	0.696	C	C	124266673	G	C	124266673	3	2	44	1	0	0	0	0	1	0	0	0	11228	1261	44	5	368	5	OR8B3	11	124266673	Missense_Mutation	SNP	G	TCGA-X7-A8DJ-01A-11D-A423-09	56507357	124266673	10739843	9	480											
RBM42	79171	genome.wustl.edu	37	chr19	36124015	36124015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagccggcccccgccCtatggccctacggccccctc	4	5	10	22	3	0	0	0	0	0	0	1	0	0	0	7	3	4	2	7	3	2	2			TCGA-X7-A8DJ-01A-11D-A423-09	TCGA-X7-A8DJ-10B-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	71043725-cf77-4331-8fdf-d52b86ad1cb8	69c7c375-191a-4a66-9211-22806cd9bdc1	g.chr19:36124015C>T	ENST00000262633.4	+	6	650	c.545C>T	c.(544-546)cCt>cTt	p.P182L	RBM42_ENST00000592202.1_Missense_Mutation_p.P128L|RBM42_ENST00000589871.1_Missense_Mutation_p.P160L|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000360475.4_Missense_Mutation_p.P153L|RBM42_ENST00000589559.1_Missense_Mutation_p.P153L|RBM42_ENST00000588161.1_Missense_Mutation_p.P152L	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	182	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCCCCCGCCCTATGGCCCTA	0.687																																							0											0													69	88	81					19																	36124015		2202	4300	6502	SO:0001583	missense	0			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"RNA binding motif (RRM) containing"	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.545C>T	19.37:g.36124015C>T	ENSP00000262633:p.Pro182Leu		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P182L	ENST00000262633.4	37	c.545	CCDS12468.1	19	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319863	0.81469	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.06608	3.29;3.28	5.05	5.05	0.67936	.	0.199807	0.44902	D	0.000416	T	0.14960	0.0361	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.78314	0.991;0.991;0.991;0.987	T	0.04650	-1.0936	10	0.26408	T	0.33	-6.7556	13.7681	0.63008	0.0:1.0:0.0:0.0	.	148;153;152;182	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	L	182;153	ENSP00000262633:P182L;ENSP00000353663:P153L	ENSP00000262633:P182L	P	+	2	0	RBM42	40815855	0.935000	0.31712	1.000000	0.80357	0.994000	0.84299	2.760000	0.47581	2.628000	0.89032	0.561000	0.74099	CCT	0	NULL		0.687	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM42	protein_coding	OTTHUMT00000459057.2	66	77	0	0.00	0	0	C	NM_024321	0	0		36124015	1	no_errors	ENST00000262633	ensembl	human	known	74_37	missense	42	49	12.5	9.26	6	5	SNP	1	T	T	36124015	C	T	36124015	3	4	44	1	0	0	0	0	1	0	0	0	13136	681	24	3	567	3	RBM42	19	36124015	Missense_Mutation	SNP	C	TCGA-X7-A8DJ-01A-11D-A423-09		36124015	23004968	10	481											
OBSCN	84033	genome.wustl.edu	37	chr1	228473872	228473872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggatctccccggccaactAcgagcctgtgcactggttcc	6	8	10	17	3	1	0	0	0	1	0	3	2	2	1	6	3	4	2	6	3	2	2			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr1:228473872A>G	ENST00000422127.1	+	34	9142	c.9098A>G	c.(9097-9099)tAc>tGc	p.Y3033C	OBSCN_ENST00000359599.6_Missense_Mutation_p.Y1880C|OBSCN_ENST00000284548.11_Missense_Mutation_p.Y3033C|OBSCN_ENST00000366707.4_Missense_Mutation_p.Y152C|OBSCN_ENST00000366709.4_Missense_Mutation_p.Y152C|OBSCN_ENST00000570156.2_Missense_Mutation_p.Y3462C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3033	Ig-like 30.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGCCAACTACGAGCCTGTG	0.632																																							0											0													32	42	39					1																	228473872		2107	4212	6319	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9098A>G	1.37:g.228473872A>G	ENSP00000409493:p.Tyr3033Cys		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.Y3033C	ENST00000422127.1	37	c.9098	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329043	0.60743	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.67	4.47	0.54385	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.349867	0.27891	N	0.017425	T	0.76870	0.4048	M	0.64997	1.995	0.34626	D	0.71911	D;D	0.89917	0.999;1.0	D;D	0.91635	0.985;0.999	T	0.81417	-0.0942	10	0.38643	T	0.18	.	10.968	0.47424	0.8603:0.0:0.0:0.1397	.	3033;3033	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3033;3033;152;152;1880	ENSP00000284548:Y3033C;ENSP00000409493:Y3033C;ENSP00000355668:Y152C;ENSP00000355670:Y152C;ENSP00000352613:Y1880C	ENSP00000284548:Y3033C	Y	+	2	0	OBSCN	226540495	0.970000	0.33590	0.827000	0.32855	0.313000	0.28021	2.498000	0.45363	2.155000	0.67459	0.459000	0.35465	TAC	0	smart_Ig_sub,smart_Ig_sub2		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		66	111	0	0.00	0	0	A	NM_052843	0	0		228473872	1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	37	101	17.78	10.62	8	12	SNP	0.964	G	G	228473872	A	G	228473872	3	3	45	1	0	0	0	0	1	0	0	0	10812	391	14	3	9228	3	OBSCN	1	228473872	Missense_Mutation	SNP	A	TCGA-X7-A8M0-01A-11D-A423-09		228473872	20776749	1	482											
RAPGEF4	11069	genome.wustl.edu	37	chr2	173848262	173848262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgacctagagattatctAtgaggagcttcttcatatta	12	14	9	6	0	3	3	1	2	2	1	3	6	3	5	1	2	1	1	1	2	5	7	rs376593491		TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr2:173848262A>G	ENST00000397081.3	+	11	1186	c.1043A>G	c.(1042-1044)tAt>tGt	p.Y348C	RAPGEF4_ENST00000397087.3_Missense_Mutation_p.Y204C|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.Y195C|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.Y347C|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.Y348C|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.Y128C|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.Y195C|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.Y177C	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	348					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)			GAGATTATCTATGAGGAGCTT	0.393																																							0											0								A	CYS/TYR,CYS/TYR	0,3664		0,0,1832	206	191	196		611,1043	6.1	1	2		196	1,8193		0,1,4096	no	missense,missense	RAPGEF4	NM_001100397.1,NM_007023.3	194,194	0,1,5928	GG,GA,AA		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	204/868,348/1012	173848262	1,11857	1832	4097	5929	SO:0001583	missense	0			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.1043A>G	2.37:g.173848262A>G	ENSP00000380271:p.Tyr348Cys		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.Y348C	ENST00000397081.3	37	c.1043	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026344	0.75390	0.0	1.22E-4	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	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	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.056547	0.64402	D	0.000001	D	0.91192	0.7225	M	0.76574	2.34	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.486;0.998	D;D;D;B;D	0.74023	0.982;0.921;0.979;0.126;0.928	D	0.91903	0.5533	10	0.87932	D	0	.	11.6956	0.51542	0.8681:0.0:0.0:0.1319	.	175;177;204;348;348	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	C	347;348;348;204;177;195;195;175;128	ENSP00000264111:Y347C;ENSP00000380271:Y348C;ENSP00000387104:Y348C;ENSP00000380276:Y204C;ENSP00000440135:Y177C;ENSP00000440250:Y195C;ENSP00000437384:Y195C;ENSP00000438011:Y128C	ENSP00000264111:Y347C	Y	+	2	0	RAPGEF4	173556508	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.963000	0.76055	2.333000	0.79357	0.482000	0.46254	TAT	0	superfamily_cNMP-bd-like		0.393	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	protein_coding	OTTHUMT00000257864.2	26	116	0	0.00	0	0	A	NM_007023	rs376593491	A->G		173848262	1	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	41	158	12.5	16.41	6	32	SNP	1	G	G	173848262	A	G	173848262	3	3	45	1	0	0	0	0	1	0	0	0	13046	449	16	3	1101	3	RAPGEF4	2	173848262	Missense_Mutation	SNP	A	TCGA-X7-A8M0-01A-11D-A423-09		173848262	69351111	2	483											
COL6A6	131873	genome.wustl.edu	37	chr3	130290046	130290046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccatgatgctgataaacTcaatgccacggcaaaggcct	13	8	8	12	1	1	2	1	2	0	0	2	2	2	2	3	2	3	2	3	2	4	1			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr3:130290046T>C	ENST00000358511.6	+	6	2817	c.2786T>C	c.(2785-2787)cTc>cCc	p.L929P	COL6A6_ENST00000453409.2_Missense_Mutation_p.L929P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	929	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						GCTGATAAACTCAATGCCACG	0.567																																							0											0													65	65	65					3																	130290046		1964	4148	6112	SO:0001583	missense	0			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.2786T>C	3.37:g.130290046T>C	ENSP00000351310:p.Leu929Pro		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.L929P	ENST00000358511.6	37	c.2786	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051016	0.75960	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79352	-1.26;-1.26	4.82	4.82	0.62117	von Willebrand factor, type A (3);	0.000000	0.51477	D	0.000097	D	0.85729	0.5764	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86486	0.1794	10	0.52906	T	0.07	.	14.3361	0.66592	0.0:0.0:0.0:1.0	.	929	A6NMZ7	CO6A6_HUMAN	P	929	ENSP00000351310:L929P;ENSP00000399236:L929P	ENSP00000351310:L929P	L	+	2	0	COL6A6	131772736	1.000000	0.71417	0.963000	0.40424	0.964000	0.63967	5.729000	0.68538	1.946000	0.56461	0.459000	0.35465	CTC	0	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.567	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	protein_coding	OTTHUMT00000356705.5	37	126	0	0.00	0	0	T	NM_001102608	0	0		130290046	1	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	32	156	15.79	7.10	6	12	SNP	0.998	C	C	130290046	T	C	130290046	3	2	45	1	0	0	0	0	1	0	0	0	3703	1551	54	4	2808	4	COL6A6	3	130290046	Missense_Mutation	SNP	T	TCGA-X7-A8M0-01A-11D-A423-09		130290046	67732384	3	484											
NDST4	64579	genome.wustl.edu	37	chr4	115760705	115760705	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatgtgatcgttggtgCtttaacaagaaagtcaattg	11	15	9	6	1	3	2	2	1	1	1	4	2	3	2	0	1	2	2	0	1	4	5			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr4:115760705C>T	ENST00000264363.2	-	11	2794		c.e11-1			NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 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)		ATCGTTGGTGCTTTAACAAGA	0.378																																							0											0													106	107	107					4																	115760705		2203	4300	6503	SO:0001630	splice_region_variant	0			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.2116-1G>A	4.37:g.115760705C>T			Q2KHM8	Splice_Site	SNP	0	e10-1	ENST00000264363.2	37	c.2116-1	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974331	0.92919	.	.	ENSG00000138653	ENST00000264363	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NDST4	115980154	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	.	0	0		0.378	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	protein_coding	OTTHUMT00000256427.1	47	201	0	0.00	0	0	C	NM_022569	0	0	Intron	115760705	-1	no_errors	ENST00000264363	ensembl	human	known	74_37	splice_site	42	265	17.65	15.87	9	50	SNP	1	T	T	115760705	C	T	115760705	5	4	45	1	0	0	0	0	0	0	1	0	10258	811	28	3	519	3	NDST4	4	115760705	Splice_Site	SNP	C	TCGA-X7-A8M0-01A-11D-A423-09		115760705	75393571	4	485											
RNF8	9025	genome.wustl.edu	37	chr6	37339295	37339295	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggctttgcagggtttggAgatagcccaaggagaaaagg	11	10	15	5	0	0	2	0	0	0	2	0	4	0	2	1	5	2	3	1	5	4	4			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr6:37339295A>T	ENST00000373479.4	+	4	1176	c.983A>T	c.(982-984)gAg>gTg	p.E328V	RNF8_ENST00000469731.1_Missense_Mutation_p.E328V	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	328	Gln-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CAGGGTTTGGAGATAGCCCAA	0.478																																							0											0													72	70	71					6																	37339295		2203	4300	6503	SO:0001583	missense	0			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.983A>T	6.37:g.37339295A>T	ENSP00000362578:p.Glu328Val		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING	p.E328V	ENST00000373479.4	37	c.983	CCDS4834.1	6	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545147	0.45280	.	.	ENSG00000112130	ENST00000373479;ENST00000469731	D;T	0.84223	-1.82;0.64	5.67	4.45	0.53987	.	0.342447	0.27609	N	0.018620	T	0.70902	0.3277	L	0.44542	1.39	0.80722	D	1	P	0.43094	0.799	B	0.38562	0.276	T	0.74910	-0.3503	10	0.44086	T	0.13	.	11.4673	0.50246	0.8497:0.1503:0.0:0.0	.	328	O76064	RNF8_HUMAN	V	328	ENSP00000362578:E328V;ENSP00000418879:E328V	ENSP00000362578:E328V	E	+	2	0	RNF8	37447273	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	4.197000	0.58413	2.164000	0.68074	0.533000	0.62120	GAG	0	pirsf_E3_Ub_ligase_RNF8		0.478	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF8	protein_coding	OTTHUMT00000040403.2	86	156	1.15	0.00	1	0	A		0	0		37339295	1	no_errors	ENST00000373479	ensembl	human	known	74_37	missense	72	197	7.69	15.09	6	35	SNP	0.985	T	T	37339295	A	T	37339295	3	4	45	1	0	0	0	0	1	0	0	0	13500	304	11	5	997	5	RNF8	6	37339295	Missense_Mutation	SNP	A	TCGA-X7-A8M0-01A-11D-A423-09		37339295	133775772	5	486											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	288	98	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	275	129	16.67	14.00	55	21	SNP	1	A	A	74146970	T	A	74146970	3	1	45	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-X7-A8M0-01A-11D-A423-09		74146970	84991693	6	487											
SORCS1	114815	genome.wustl.edu	37	chr10	108339194	108339194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagcagcatcagcatggCagatccactgtgggttggag	10	8	15	8	0	1	2	1	1	0	2	2	4	2	3	1	3	3	5	1	3	0	1			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr10:108339194C>A	ENST00000263054.6	-	25	3311	c.3304G>T	c.(3304-3306)Gcc>Tcc	p.A1102S	SORCS1_ENST00000344440.6_Missense_Mutation_p.A1102S|SORCS1_ENST00000369698.1_Missense_Mutation_p.A637S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1102					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)		ATCAGCATGGCAGATCCACTG	0.552																																							0											0													113	85	95					10																	108339194		2203	4300	6503	SO:0001583	missense	0			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.3304G>T	10.37:g.108339194C>A	ENSP00000263054:p.Ala1102Ser		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.A1102S	ENST00000263054.6	37	c.3304	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.162207	0.94727	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.32753	1.44;1.9;1.9	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	L	0.49778	1.585	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	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.32666	-0.9898	9	.	.	.	-20.9447	20.3167	0.98654	0.0:1.0:0.0:0.0	.	1102;1102;1102;1102;1102	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	S	637;1102;1102	ENSP00000358712:A637S;ENSP00000263054:A1102S;ENSP00000345964:A1102S	.	A	-	1	0	SORCS1	108329184	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	7.487000	0.81328	2.809000	0.96659	0.557000	0.71058	GCC	0	NULL		0.552	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	protein_coding	OTTHUMT00000050232.4	20	84	0	0.00	0	0	C	NM_052918	0	0		108339194	-1	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	21	112	16	10.24	4	13	SNP	1	A	A	108339194	C	A	108339194	3	1	45	1	0	0	0	0	1	0	0	0	14930	710	25	5	444	5	SORCS1	10	108339194	Missense_Mutation	SNP	C	TCGA-X7-A8M0-01A-11D-A423-09		108339194	27195553	7	488											
OR4A16	81327	genome.wustl.edu	37	chr11	55111501	55111501	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgactgtgttttattcaatTatcacactcatgttgaatcc	11	17	5	8	0	3	2	3	2	0	0	4	2	4	2	1	0	0	2	1	0	4	5			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr11:55111501T>C	ENST00000314721.2	+	1	875	c.825T>C	c.(823-825)atT>atC	p.I275I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	275						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(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTATTCAATTATCACACTCA	0.323																																							0											0													96	91	93					11																	55111501		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.825T>C	11.37:g.55111501T>C			Q6IFL3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I275	ENST00000314721.2	37	c.825	CCDS31499.1	11																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.323	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	protein_coding	OTTHUMT00000391160.1	38	143	0	0.00	0	0	T	NM_001005274	0	0		55111501	1	no_errors	ENST00000314721	ensembl	human	known	74_37	silent	54	235	26.03	12.92	19	35	SNP	0	C	C	55111501	T	C	55111501	2	2	45	1	0	0	0	0	0	0	0	1	11041	1742	61	3		3	OR4A16	11	55111501	Silent	SNP	T	TCGA-X7-A8M0-01A-11D-A423-09		55111501	79895015	8	489											
TDRD9	122402	genome.wustl.edu	37	chr14	104488496	104488496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttacatttgtggaacagagCctttgtggaattctcacgaa	11	14	9	7	1	1	1	1	0	1	1	2	4	1	3	1	2	3	0	1	2	4	5			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr14:104488496C>T	ENST00000409874.4	+	24	2483	c.2435C>T	c.(2434-2436)gCc>gTc	p.A812V	TDRD9_ENST00000339063.5_Missense_Mutation_p.A812V	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	812					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGGAACAGAGCCTTTGTGGAA	0.333																																							0											0													17	17	17					14																	104488496		2175	4229	6404	SO:0001583	missense	0			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2435C>T	14.37:g.104488496C>T	ENSP00000387303:p.Ala812Val		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Tudor,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,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A812V	ENST00000409874.4	37	c.2435	CCDS9987.2	14	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671375	0.47781	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.61980	0.06;0.06	5.6	4.71	0.59529	.	0.000000	0.64402	D	0.000005	T	0.72946	0.3524	L	0.55834	1.745	0.80722	D	1	D;P	0.71674	0.998;0.512	D;B	0.74348	0.983;0.153	T	0.70114	-0.4961	10	0.26408	T	0.33	.	14.5837	0.68310	0.0:0.9295:0.0:0.0705	.	812;812	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	V	812	ENSP00000387303:A812V;ENSP00000343545:A812V	ENSP00000343545:A812V	A	+	2	0	TDRD9	103558249	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	3.760000	0.55235	1.368000	0.46115	0.650000	0.86243	GCC	0	NULL		0.333	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD9	protein_coding	OTTHUMT00000328325.3	71	154	0	0.00	0	0	C	NM_153046	0	0		104488496	1	no_errors	ENST00000409874	ensembl	human	known	74_37	missense	64	219	17.95	11.69	14	29	SNP	1	T	T	104488496	C	T	104488496	3	4	45	1	0	0	0	0	1	0	0	0	15733	739	26	3	2529	3	TDRD9	14	104488496	Missense_Mutation	SNP	C	TCGA-X7-A8M0-01A-11D-A423-09		104488496	2861044	9	490											
CACNA1A	773	genome.wustl.edu	37	chr19	13318678	13318678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcctggccaccgcctgctGctgctgctgctgctgctgct	1	10	13	17	2	0	0	0	0	0	0	0	0	0	0	4	2	8	8	4	2	0	0	rs16054		TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chr19:13318678G>C	ENST00000360228.5	-	47	6969	c.6970C>G	c.(6970-6972)Cag>Gag	p.Q2324E	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)	ACCGCctgctgctgctgctgc	0.761																																							0											0													1	1	1					19																	13318678		305	799	1104	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6970C>G	19.37:g.13318678G>C	ENSP00000353362:p.Gln2324Glu		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.Q2324E	ENST00000360228.5	37	c.6970	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	g	0.067	-1.210719	0.01555	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.95171	-3.63	.	.	.	.	0.000000	0.08080	U	1.000000	D	0.83801	0.5333	N	0.08118	0	0.25543	N	0.98717	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.71533	-0.4564	9	0.15499	T	0.54	.	4.4457	0.11597	1.0E-4:0.0:0.6279:0.3719	.	2330;2324;2313	E9PD31;Q9NS88;E7EVF2	.;.;.	E	2324;2330;2313	ENSP00000353362:Q2324E	ENSP00000349520:Q2313E	Q	-	1	0	CACNA1A	13179678	0.983000	0.35010	0.163000	0.22734	0.834000	0.47266	0.936000	0.28938	-0.000000	0.14550	0.000000	0.15137	CAG	0	NULL		0.761	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	21	5	0	0.00	0	0	G	NM_000068	0	0		13318678	-1	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	9	0	18.18	0.00	2	0	SNP	0.497	C	C	13318678	G	C	13318678	3	2	45	1	0	0	0	0	1	0	0	0	2538	1328	46	5	554	5	CACNA1A	19	13318678	Missense_Mutation	SNP	G	TCGA-X7-A8M0-01A-11D-A423-09		13318678	45810305	10	491											
KIAA2022	340533	genome.wustl.edu	37	chrX	73961372	73961372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacttcaagcttaaggagCaataattacttgagctgaca	15	10	9	7	0	1	2	1	2	0	0	1	4	1	4	0	2	4	3	0	2	5	5			TCGA-X7-A8M0-01A-11D-A423-09	TCGA-X7-A8M0-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2f14effa-eed5-41dc-a4b3-dd631d3c8632	060218af-90f8-497f-9ff8-8c5978e86dd6	g.chrX:73961372C>A	ENST00000055682.6	-	3	3631	c.3020G>T	c.(3019-3021)tGc>tTc	p.C1007F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1007					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						GCTTAAGGAGCAATAATTACT	0.473																																							0											0													69	61	64					X																	73961372		2203	4300	6503	SO:0001583	missense	0				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.3020G>T	X.37:g.73961372C>A	ENSP00000055682:p.Cys1007Phe		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.C1007F	ENST00000055682.6	37	c.3020	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139748	0.56936	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32515	1.45;1.45	5.58	5.58	0.84498	.	0.041372	0.85682	D	0.000000	T	0.30008	0.0751	N	0.22421	0.69	0.45427	D	0.998408	D	0.54964	0.969	P	0.47827	0.558	T	0.02115	-1.1211	10	0.29301	T	0.29	-6.6583	18.6356	0.91378	0.0:1.0:0.0:0.0	.	1007	Q5QGS0	K2022_HUMAN	F	1007	ENSP00000362567:C1007F;ENSP00000055682:C1007F	ENSP00000055682:C1007F	C	-	2	0	KIAA2022	73878097	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.761000	0.68801	2.344000	0.79699	0.600000	0.82982	TGC	0	NULL		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	38	161	0	0.00	0	0	C	NM_001008537	0	0		73961372	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	49	224	9.26	11.42	5	29	SNP	1	A	A	73961372	C	A	73961372	3	1	45	1	0	0	0	0	1	0	0	0	8269	710	25	5	1538	5	KIAA2022	23	73961372	Missense_Mutation	SNP	C	TCGA-X7-A8M0-01A-11D-A423-09		73961372	81309188	11	492											
HMCN1	83872	genome.wustl.edu	37	chr1	186052062	186052062	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagaacacagctgggagTgccaaaaaatattttaacct	15	9	9	8	0	0	1	0	1	0	1	0	3	0	2	2	1	4	2	2	1	6	3			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr1:186052062T>C	ENST00000271588.4	+	57	9082	c.8853T>C	c.(8851-8853)agT>agC	p.S2951S	HMCN1_ENST00000367492.2_Silent_p.S2951S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2951	Ig-like C2-type 27.				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						CAGCTGGGAGTGCCAAAAAAT	0.348																																							0											0													82	82	82					1																	186052062		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8853T>C	1.37:g.186052062T>C			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.S2951	ENST00000271588.4	37	c.8853	CCDS30956.1	1																																																																																			0	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	94	283	0	0.00	0	0	T	NM_031935	0	0		186052062	1	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	98	247	16.95	18.75	20	57	SNP	1	C	C	186052062	T	C	186052062	2	2	46	1	0	0	0	0	0	0	0	1	7220	1693	59	3		3	HMCN1	1	186052062	Silent	SNP	T	TCGA-X7-A8M1-01A-11D-A423-09		186052062	63198559	1	493											
DYSF	8291	genome.wustl.edu	37	chr2	71738996	71738996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtgcccctgttcccGccccctactcctctggagcc	3	9	10	19	1	1	0	0	0	1	0	3	2	3	2	7	2	4	2	7	2	1	2			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr2:71738996G>A	ENST00000258104.3	+	5	679	c.402G>A	c.(400-402)ccG>ccA	p.P134P	DYSF_ENST00000413539.2_Silent_p.P134P|DYSF_ENST00000409762.1_Silent_p.P134P|DYSF_ENST00000409366.1_Silent_p.P135P|DYSF_ENST00000409744.1_Silent_p.P135P|DYSF_ENST00000394120.2_Silent_p.P135P|DYSF_ENST00000409582.3_Silent_p.P134P|DYSF_ENST00000409651.1_Silent_p.P135P|DYSF_ENST00000410041.1_Silent_p.P135P|DYSF_ENST00000410020.3_Silent_p.P135P|DYSF_ENST00000429174.2_Silent_p.P134P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	134					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						CCCTGTTCCCGCCCCCTACTC	0.672																																							0											0													53	40	44					2																	71738996		1981	3797	5778	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.402G>A	2.37:g.71738996G>A			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.P134	ENST00000258104.3	37	c.402	CCDS1918.1	2																																																																																			0	superfamily_C2_dom		0.672	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	52	69	0	0.00	0	0	G	NM_003494	0	0		71738996	1	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	37	71	26.42	8.86	14	7	SNP	0.01	A	A	71738996	G	A	71738996	2	1	46	1	0	0	0	0	0	0	0	1	4859	1074	38	1		1	DYSF	2	71738996	Silent	SNP	G	TCGA-X7-A8M1-01A-11D-A423-09		71738996	171460377	2	494											
RWDD4A	201965	genome.wustl.edu	37	chr4	184577088	184577088	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactttcatctccttcataAatagagcgtaatgcttctag	13	14	5	9	1	4	1	2	0	2	1	5	1	4	1	1	0	3	2	1	0	6	7			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr4:184577088A>T	ENST00000326397.5	-	2	323	c.51T>A	c.(49-51)atT>atA	p.I17I	RWDD4_ENST00000327570.9_Silent_p.I17I|RWDD4_ENST00000512740.1_Intron|RWDD4_ENST00000510968.1_Intron|RNU6-479P_ENST00000516348.1_RNA	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	17	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CTCCTTCATAAATAGAGCGTA	0.328																																							0											0													87	97	93					4																	184577088		2203	4295	6498	SO:0001819	synonymous_variant	0			BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"family with sequence similarity 28, member A", "RWD domain containing 4A"	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.51T>A	4.37:g.184577088A>T			B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Silent	SNP	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	p.I17	ENST00000326397.5	37	c.51	CCDS34111.1	4																																																																																			0	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain		0.328	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RWDD4	protein_coding	OTTHUMT00000361499.2	33	120	0	0.00	0	0	A	NM_152682	0	0		184577088	-1	no_errors	ENST00000326397	ensembl	human	known	74_37	silent	41	98	26.79	24.62	15	32	SNP	1	T	T	184577088	A	T	184577088	2	4	46	1	0	0	0	0	0	0	0	1	13758	10	1	5		5	RWDD4A	4	184577088	Silent	SNP	A	TCGA-X7-A8M1-01A-11D-A423-09		184577088	6577188	3	495											
HLA-DRB1	3123	genome.wustl.edu	37	chr6	32551958	32551959	+	Frame_Shift_Ins	INS	-	-	TT																															gtgtccaccgcggcccgcgcINSctgctccaggatgtccttct																								rs17879599|rs1064592|rs568948309|rs200320734	byFrequency	TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr6:32551958_32551959insTT	ENST00000360004.5	-	2	402_403	c.297_298insAA	c.(295-300)caggcgfs	p.A100fs		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	100	Beta-1.				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						GCGGCCCGCGCCTGCTCCAGGA	0.683										Multiple Myeloma(14;0.17)																													0											0																																										SO:0001589	frameshift_variant	0			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.297_298insAA	6.37:g.32551958_32551959insTT	ENSP00000353099:p.Ala100fs		P01914|Q9MYF5	Frame_Shift_Ins	INS	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.A99fs	ENST00000360004.5	37	c.298_297	CCDS47409.1	6																																																																																			0	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N		0.683	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	protein_coding	OTTHUMT00000076393.3	12	2	0	0.00	0	0	0	NM_002124	rs200320734	C->CTT		32551959	-1	no_errors	ENST00000360004	ensembl	human	known	74_37	frame_shift_ins	9	3	40	0.00	6	0	INS	0.000:0.000	TT	TT	32551959	-	TT	32551958	7	5	46	1	0	1	1	0	0	0	0	0	7208	739	26	0	522	0	HLA-DRB1	6	32551958	Frame_Shift_Ins	INS	-	TCGA-X7-A8M1-01A-11D-A423-09		32551958	138563109	4	496											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	266	126	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	317	103	16.8	20.77	64	27	SNP	1	A	A	74146970	T	A	74146970	3	1	46	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-X7-A8M1-01A-11D-A423-09		74146970	84991693	5	497											
PCLO	27445	genome.wustl.edu	37	chr7	82578982	82578982	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggggtttttcataaggtAcaaaggctgattctaaggct	11	12	13	5	0	2	1	1	1	1	0	2	2	2	2	0	6	1	4	0	6	4	6			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr7:82578982A>T	ENST00000333891.9	-	6	11259	c.10922T>A	c.(10921-10923)gTa>gAa	p.V3641E	PCLO_ENST00000423517.2_Missense_Mutation_p.V3641E|PCLO_ENST00000437081.1_Missense_Mutation_p.V361E	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						TTCATAAGGTACAAAGGCTGA	0.483																																							0											0													154	151	152					7																	82578982		1949	4141	6090	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10922T>A	7.37:g.82578982A>T	ENSP00000334319:p.Val3641Glu			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.V3641E	ENST00000333891.9	37	c.10922	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	A	15.43	2.830275	0.50845	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17691	2.27;2.26	5.61	5.61	0.85477	.	.	.	.	.	T	0.38026	0.1025	L	0.54323	1.7	0.45704	D	0.998615	D;D;D	0.89917	0.984;1.0;1.0	P;D;D	0.72625	0.77;0.978;0.978	T	0.11842	-1.0571	9	0.87932	D	0	.	15.8092	0.78543	1.0:0.0:0.0:0.0	.	3572;3641;3641	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	E	3572;3641;3641;361	ENSP00000334319:V3641E;ENSP00000388393:V3641E	ENSP00000334319:V3641E	V	-	2	0	PCLO	82416918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.280000	0.89903	2.134000	0.65973	0.528000	0.53228	GTA	0	NULL		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	75	160	1.3	0.00	1	0	A	NM_014510	0	0		82578982	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	87	157	21.62	25.82	24	55	SNP	1	T	T	82578982	A	T	82578982	3	4	46	1	0	0	0	0	1	0	0	0	11583	391	14	5	4603	5	PCLO	7	82578982	Missense_Mutation	SNP	A	TCGA-X7-A8M1-01A-11D-A423-09	8432012	82578982	76559681	6	498											
ATP12A	479	genome.wustl.edu	37	chr13	25274967	25274967	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgaactttccgacctcCaacctctgttttgtgggact	7	14	8	12	1	1	1	0	1	1	0	3	3	3	2	4	1	2	2	4	1	3	4			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr13:25274967C>A	ENST00000381946.3	+	13	1955	c.1788C>A	c.(1786-1788)tcC>tcA	p.S596S	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Silent_p.S602S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	596					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)		TTCCGACCTCCAACCTCTGTT	0.498																																					Pancreas(156;1582 1935 18898 22665 26498)		0											0													158	143	148					13																	25274967		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1788C>A	13.37:g.25274967C>A			Q13816|Q13817|Q16734|Q5W035|Q8N5U2	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.S602	ENST00000381946.3	37	c.1806	CCDS31948.1	13																																																																																			0	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC		0.498	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	protein_coding	OTTHUMT00000044199.1	41	243	0	0.00	0	0	C	NM_001676	0	0		25274967	1	no_errors	ENST00000218548	ensembl	human	known	74_37	silent	52	178	22.39	22.17	15	51	SNP	0.504	A	A	25274967	C	A	25274967	2	1	46	1	0	0	0	0	0	0	0	1	1122	581	21	5		5	ATP12A	13	25274967	Silent	SNP	C	TCGA-X7-A8M1-01A-11D-A423-09		25274967	89894911	7	499											
MYO1E	4643	genome.wustl.edu	37	chr15	59523988	59523988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggataatgtccttcacGtgctgtcccagcaaatagac	11	10	9	11	1	1	1	1	0	0	1	3	2	3	2	2	1	3	3	2	1	3	3			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr15:59523988G>A	ENST00000288235.4	-	6	822	c.423C>T	c.(421-423)caC>caT	p.H141H	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	141	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)		TGTCCTTCACGTGCTGTCCCA	0.522																																							0											0													100	87	91					15																	59523988		2190	4290	6480	SO:0001819	synonymous_variant	0			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.423C>T	15.37:g.59523988G>A			Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,prints_Myosin_head_motor_dom	p.T112M	ENST00000288235.4	37	c.335	CCDS32254.1	15																																																																																			0	prints_Myosin_head_motor_dom		0.522	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	protein_coding	OTTHUMT00000416024.1	54	175	0	0.00	0	0	G	NM_004998	0	0		59523988	-1	no_errors	ENST00000558571	ensembl	human	known	74_37	missense	48	122	21.31	28.24	13	48	SNP	0.982	A	A	59523988	G	A	59523988	2	1	46	1	0	0	0	0	0	0	0	1	10072	1136	40	1		1	MYO1E	15	59523988	Silent	SNP	G	TCGA-X7-A8M1-01A-11D-A423-09		59523988	43007404	8	500											
TSC2	7249	genome.wustl.edu	37	chr16	2126081	2126081	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctcaggtttaatcagtaCatcgtgtgtctggcccatca	9	13	8	11	1	4	0	3	0	2	0	6	0	4	0	1	2	1	2	1	2	2	3	rs45489200		TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr16:2126081C>G	ENST00000219476.3	+	24	3282	c.2652C>G	c.(2650-2652)taC>taG	p.Y884*	TSC2_ENST00000350773.4_Nonsense_Mutation_p.Y884*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.Y847*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.Y884*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.Y895*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.Y835*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.Y884*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	884					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)				TTAATCAGTACATCGTGTGTC	0.557			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														0	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													112	95	101					16																	2126081		2198	4299	6497	SO:0001587	stop_gained	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	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.2652C>G	16.37:g.2126081C>G	ENSP00000219476:p.Tyr884*		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.Y884*	ENST00000219476.3	37	c.2652	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	C	41	8.760200	0.98943	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	5.09	0.29	0.15728	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.0501	11.5577	0.50759	0.0:0.7077:0.0:0.2922	.	.	.	.	X	884;884;884;847;835;884	.	ENSP00000219476:Y884X	Y	+	3	2	TSC2	2066082	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	0.867000	0.27968	0.179000	0.19938	-0.254000	0.11334	TAC	0	pfam_Tuberin-type_domain,prints_Tuberin		0.557	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	protein_coding	OTTHUMT00000250657.2	71	201	0	0.00	0	0	C	NM_000548	0	0		2126081	1	no_errors	ENST00000219476	ensembl	human	known	74_37	nonsense	60	170	7.69	6.08	5	11	SNP	1	G	G	2126081	C	G	2126081	4	3	46	1	0	0	0	0	0	1	0	0	16603	489	17	5	2742	5	TSC2	16	2126081	Nonsense_Mutation	SNP	C	TCGA-X7-A8M1-01A-11D-A423-09		2126081	88228672	9	501											
MYH13	8735	genome.wustl.edu	37	chr17	10248531	10248531	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctaccttctcgatgagCtcgatgcaggcagccaggtc	7	10	10	14	2	2	1	0	1	2	0	6	3	2	1	2	2	4	3	2	2	1	2			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr17:10248531C>T	ENST00000418404.3	-	14	1735	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	MYH13_ENST00000252172.4_Silent_p.E524E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	524	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						TCTCGATGAGCTCGATGCAGG	0.537																																							0											0													160	143	149					17																	10248531		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1572G>A	17.37:g.10248531C>T			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.E524	ENST00000418404.3	37	c.1572	CCDS45613.1	17																																																																																			0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.537	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	85	68	0	0.00	0	0	C	NM_003802	0	0		10248531	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	silent	82	62	21.9	27.91	23	24	SNP	1	T	T	10248531	C	T	10248531	2	4	46	1	0	0	0	0	0	0	0	1	10032	796	28	3		3	MYH13	17	10248531	Silent	SNP	C	TCGA-X7-A8M1-01A-11D-A423-09		10248531	70946679	10	502											
DDX26B	203522	genome.wustl.edu	37	chrX	134713737	134713737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactatcattcacgatggccAtgaggagaagatggaaaatg	15	9	11	6	1	2	3	2	1	0	2	2	6	2	4	1	3	1	0	1	3	5	3			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chrX:134713737A>G	ENST00000370752.4	+	15	2367	c.2033A>G	c.(2032-2034)cAt>cGt	p.H678R	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	678										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CACGATGGCCATGAGGAGAAG	0.448																																							0											0													82	77	79					X																	134713737		2203	4300	6503	SO:0001583	missense	0			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.2033A>G	X.37:g.134713737A>G	ENSP00000359788:p.His678Arg		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.H678R	ENST00000370752.4	37	c.2033	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	A	0.268	-0.995149	0.02145	.	.	ENSG00000165359	ENST00000370752	T	0.28454	1.61	5.67	1.88	0.25563	.	0.478683	0.26183	N	0.025850	T	0.21841	0.0526	L	0.51422	1.61	0.21652	N	0.999606	B;B	0.14012	0.009;0.009	B;B	0.18263	0.021;0.017	T	0.24119	-1.0169	10	0.15952	T	0.53	0.4214	5.5035	0.16840	0.7149:0.0:0.1526:0.1325	.	678;678	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	R	678	ENSP00000359788:H678R	ENSP00000359788:H678R	H	+	2	0	DDX26B	134541403	1.000000	0.71417	0.501000	0.27601	0.079000	0.17450	3.649000	0.54417	0.324000	0.23333	0.486000	0.48141	CAT	0	NULL		0.448	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	protein_coding	OTTHUMT00000058420.1	29	68	0	0.00	0	0	A	NM_182540	0	0		134713737	1	no_errors	ENST00000370752	ensembl	human	known	74_37	missense	19	31	26.92	35.42	7	17	SNP	0.656	G	G	134713737	A	G	134713737	3	3	46	1	0	0	0	0	1	0	0	0	4353	217	8	3	2091	3	DDX26B	23	134713737	Missense_Mutation	SNP	A	TCGA-X7-A8M1-01A-11D-A423-09		134713737	20556823	11	503											
LTBP1	4052	genome.wustl.edu	37	chr2	33488415	33488415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtagctcctgaagcttCtacgtctagtgccagccaag	10	10	10	11	1	2	2	0	2	2	0	3	2	3	2	3	0	5	3	3	0	6	4			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr2:33488415C>A	ENST00000404816.2	+	15	2926	c.2573C>A	c.(2572-2574)tCt>tAt	p.S858Y	LTBP1_ENST00000404525.1_Missense_Mutation_p.S479Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.S533Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.S532Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.S859Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.S532Y|LTBP1_ENST00000402934.1_Missense_Mutation_p.S479Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	858					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)				CCTGAAGCTTCTACGTCTAGT	0.428																																							0											0													144	140	141					2																	33488415		2203	4300	6503	SO:0001583	missense	0				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.2573C>A	2.37:g.33488415C>A	ENSP00000386043:p.Ser858Tyr		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.S859Y	ENST00000404816.2	37	c.2576	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039753	0.75732	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.46;-1.41;-1.38;-1.41;-1.4;-1.38;1.64;0.22	5.38	5.38	0.77491	.	.	.	.	.	D	0.88157	0.6361	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.979;1.0;1.0;1.0	D;D;P;D;D;D	0.91635	0.998;0.999;0.896;0.999;0.999;0.999	D	0.86560	0.1840	9	0.37606	T	0.19	.	19.1503	0.93485	0.0:1.0:0.0:0.0	.	858;532;479;532;533;859	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	Y	858;859;533;532;479;479;532;186;176	ENSP00000386043:S858Y;ENSP00000346467:S859Y;ENSP00000374653:S533Y;ENSP00000393057:S532Y;ENSP00000384373:S479Y;ENSP00000385359:S479Y;ENSP00000384091:S532Y;ENSP00000415412:S186Y;ENSP00000417591:S176Y	ENSP00000346467:S859Y	S	+	2	0	LTBP1	33341919	1.000000	0.71417	0.988000	0.46212	0.841000	0.47740	5.677000	0.68142	2.528000	0.85240	0.561000	0.74099	TCT	0	NULL		0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	protein_coding	OTTHUMT00000326227.2	64	219	0	0.00	0	0	C	NM_206943	0	0		33488415	1	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	0	14	100	89.23	20	116	SNP	1	A	A	33488415	C	A	33488415	3	1	47	1	0	0	0	0	1	0	0	0	9073	913	32	5	2686	5	LTBP1	2	33488415	Missense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09		33488415	209710958	1	504											
MCFD2	90411	genome.wustl.edu	37	chr2	47132657	47132657	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatccatcattgttcttgTcatcatctctcaaaacacca	11	15	3	12	0	6	0	4	0	2	0	8	0	7	0	2	0	1	2	2	0	3	4			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr2:47132657T>C	ENST00000409105.1	-	5	565	c.386A>G	c.(385-387)gAc>gGc	p.D129G	MCFD2_ENST00000319466.4_Missense_Mutation_p.D129G|MCFD2_ENST00000409800.1_Missense_Mutation_p.D77G|MCFD2_ENST00000409207.1_Missense_Mutation_p.D129G|MCFD2_ENST00000409147.1_Missense_Mutation_p.D77G|AC016722.4_ENST00000429761.1_RNA|MCFD2_ENST00000409973.1_Missense_Mutation_p.D129G|MCFD2_ENST00000409913.1_Missense_Mutation_p.D77G|MCFD2_ENST00000409218.1_Missense_Mutation_p.D129G|MCFD2_ENST00000493804.1_5'UTR|MCFD2_ENST00000444761.2_Missense_Mutation_p.D110G	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	129	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		D -> E (in F5F8D2; interferes with protein folding; dbSNP:rs28942113). {ECO:0000269|PubMed:12717434}.		cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	ATTGTTCTTGTCATCATCTCT	0.368																																							0											0													257	195	216					2																	47132657		2203	4300	6503	SO:0001583	missense	0			AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"EF-hand domain containing"	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.386A>G	2.37:g.47132657T>C	ENSP00000386651:p.Asp129Gly		A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.D129G	ENST00000409105.1	37	c.386	CCDS33192.1	2	.	.	.	.	.	.	.	.	.	.	T	26.8	4.772629	0.90108	.	.	ENSG00000180398	ENST00000444761;ENST00000409105;ENST00000409913;ENST00000319466;ENST00000409800;ENST00000409207;ENST00000409973;ENST00000409147;ENST00000409218;ENST00000412438	D;D;D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	5.52	5.52	0.82312	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	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	0.99170	1.0864	10	0.87932	D	0	-23.9983	15.4649	0.75390	0.0:0.0:0.0:1.0	.	110;129	E9PD95;Q8NI22	.;MCFD2_HUMAN	G	110;129;77;129;77;129;129;77;129;129	ENSP00000394647:D110G;ENSP00000386651:D129G;ENSP00000386941:D77G;ENSP00000317271:D129G;ENSP00000387202:D77G;ENSP00000386386:D129G;ENSP00000386279:D129G;ENSP00000387082:D77G;ENSP00000386261:D129G;ENSP00000402717:D129G	ENSP00000317271:D129G	D	-	2	0	MCFD2	46986161	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.478000	0.81082	2.317000	0.78254	0.460000	0.39030	GAC	0	pfscan_EF_hand_dom		0.368	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MCFD2	protein_coding	OTTHUMT00000329518.1	55	223	0	0.00	0	0	T	NM_139279	0	0		47132657	-1	no_errors	ENST00000319466	ensembl	human	known	74_37	missense	4	26	80	82.19	16	120	SNP	1	C	C	47132657	T	C	47132657	3	2	47	1	0	0	0	0	1	0	0	0	9381	1667	58	3	58	3	MCFD2	2	47132657	Missense_Mutation	SNP	T	TCGA-X7-A8M3-01A-11D-A423-09	13644242	47132657	196066716	2	505											
DIS3L2	129563	genome.wustl.edu	37	chr2	232952373	232952373	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagatggacatggcatCacacaaaatgtgctggttga	14	9	11	7	0	2	3	2	1	0	2	2	4	2	4	0	3	1	3	0	3	3	1			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr2:232952373C>A	ENST00000409307.1	+	5	543	c.543C>A	c.(541-543)atC>atA	p.I181I	DIS3L2_ENST00000409401.3_Silent_p.I181I|DIS3L2_ENST00000325385.7_Silent_p.I181I|DIS3L2_ENST00000273009.6_Silent_p.I181I|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000360410.4_Silent_p.I181I					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)		GACATGGCATCACACAAAATG	0.413																																							0											0													76	78	77					2																	232952373		2031	4192	6223	SO:0001819	synonymous_variant	0			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.543C>A	2.37:g.232952373C>A				Silent	SNP	NULL	p.I181	ENST00000409307.1	37	c.543	CCDS42834.1	2																																																																																			0	NULL		0.413	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	protein_coding	OTTHUMT00000330988.1	38	216	0	0.00	0	0	C	NM_152383	0	0		232952373	1	no_errors	ENST00000325385	ensembl	human	known	74_37	silent	2	32	93.1	78.67	27	118	SNP	0	A	A	232952373	C	A	232952373	2	1	47	1	0	0	0	0	0	0	0	1	4537	816	29	5		5	DIS3L2	2	232952373	Silent	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09	185819716	232952373	10247000	3	506											
KTELC1	56983	genome.wustl.edu	37	chr3	119204216	119204216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaaaaactctacagCatatttccgaggatcaaggt	18	8	8	7	1	2	1	1	0	1	1	3	4	3	2	1	2	3	1	1	2	7	3			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr3:119204216C>A	ENST00000295588.4	+	6	704	c.620C>A	c.(619-621)gCa>gAa	p.A207E		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	207					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AACTCTACAGCATATTTCCGA	0.318																																							0											0													109	119	115					3																	119204216		2203	4300	6503	SO:0001583	missense	0			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.620C>A	3.37:g.119204216C>A	ENSP00000295588:p.Ala207Glu		B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	pfam_LipoPS_modifying,smart_LipoPS_modifying	p.A207E	ENST00000295588.4	37	c.620	CCDS2988.1	3	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254278	0.80135	.	.	ENSG00000163389	ENST00000295588	T	0.38401	1.14	5.32	4.39	0.52855	.	0.057051	0.64402	D	0.000001	T	0.57770	0.2076	M	0.83774	2.66	0.35661	D	0.8125	D	0.57899	0.981	D	0.63033	0.91	T	0.70182	-0.4942	10	0.72032	D	0.01	-15.5433	10.8883	0.46981	0.0:0.757:0.243:0.0	.	207	Q8NBL1	PGLT1_HUMAN	E	207	ENSP00000295588:A207E	ENSP00000295588:A207E	A	+	2	0	POGLUT1	120686906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.663000	0.61532	2.634000	0.89283	0.655000	0.94253	GCA	0	pfam_LipoPS_modifying,smart_LipoPS_modifying		0.318	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POGLUT1	protein_coding	OTTHUMT00000355034.2	98	271	0	0.00	0	0	C	NM_152305	0	0		119204216	1	no_errors	ENST00000295588	ensembl	human	known	74_37	missense	6	18	95.86	94.41	139	321	SNP	1	A	A	119204216	C	A	119204216	3	1	47	1	0	0	0	0	1	0	0	0	8583	710	25	5	642	5	KTELC1	3	119204216	Missense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09		119204216	78818214	4	507											
TET2	54790	genome.wustl.edu	37	chr4	106190854	106190854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcatgtttggacttcTgtgctcatgcccacagagac	8	12	9	12	0	3	1	2	0	1	1	3	3	3	2	1	1	3	3	1	1	0	2			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr4:106190854T>C	ENST00000540549.1	+	9	4992	c.4132T>C	c.(4132-4134)Tgt>Cgt	p.C1378R	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Missense_Mutation_p.C1378R|TET2_ENST00000513237.1_Missense_Mutation_p.C1399R			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1378					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)		TTTGGACTTCTGTGCTCATGC	0.488			"Mis N, F"		MDS																																		0		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													110	95	100					4																	106190854		692	1591	2283	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4132T>C	4.37:g.106190854T>C	ENSP00000442788:p.Cys1378Arg		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.C1378R	ENST00000540549.1	37	c.4132	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519760	0.85495	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.11821	2.74;2.74;2.74	5.62	5.62	0.85841	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.42040	0.1185	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.44081	-0.9351	9	0.87932	D	0	-5.0547	15.8317	0.78757	0.0:0.0:0.0:1.0	.	1399;1378	E7EQS8;Q6N021	.;TET2_HUMAN	R	1378;1399;1378	ENSP00000442788:C1378R;ENSP00000425443:C1399R;ENSP00000369351:C1378R	ENSP00000369351:C1378R	C	+	1	0	TET2	106410303	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.891000	0.87319	2.152000	0.67230	0.533000	0.62120	TGT	0	NULL		0.488	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	24	73	0	0.00	0	0	T	NM_017628	0	0		106190854	1	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	1	7	95.24	88.14	20	52	SNP	1	C	C	106190854	T	C	106190854	3	2	47	1	0	0	0	0	1	0	0	0	15767	1580	55	4	4247	4	TET2	4	106190854	Missense_Mutation	SNP	T	TCGA-X7-A8M3-01A-11D-A423-09		106190854	84963422	5	508											
PPWD1	23398	genome.wustl.edu	37	chr5	64868114	64868114	+	Splice_Site	DEL	G	G	-																															tctttgatgaatcactaagcGtaagtgtaatttaaatttaa																										TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr5:64868114delG	ENST00000261308.5	+	5	1041		c.e5+1		PPWD1_ENST00000535264.1_Splice_Site|PPWD1_ENST00000538977.1_Splice_Site	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1						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)		ATCACTAAGCGTAAGTGTAAT	0.284																																							0											0													33	38	36					5																	64868114		2196	4290	6486	SO:0001630	splice_region_variant	0			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.969+1G>-	5.37:g.64868114delG			B4DWR9|Q15002|Q7KZ89	Splice_Site	DEL	0	e5+1	ENST00000261308.5	37	c.969+1	CCDS3985.1	5																																																																																			0	0		0.284	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPWD1	protein_coding	OTTHUMT00000253970.2	72	344	0	0.00	0	0	G	NM_015342	0	0	Intron	64868114	1	no_errors	ENST00000261308	ensembl	human	known	74_37	splice_site_del	74	269	45.59	42.89	62	202	DEL	1	0	-	64868114	G	-	64868114	8	5	47	1	0	1	0	1	0	0	1	0	12414	1159	40	0	988	0	PPWD1	5	64868114	Splice_Site	DEL	G	TCGA-X7-A8M3-01A-11D-A423-09		64868114	116047146	6	509											
CEP120	153241	genome.wustl.edu	37	chr5	122729053	122729053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctacactgctacggatgcGaactgatgctctctctggct	7	13	9	12	2	3	1	0	1	3	0	4	3	3	2	0	2	6	3	0	2	3	3			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr5:122729053G>A	ENST00000306467.5	-	6	1055	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	CEP120_ENST00000395431.2_Missense_Mutation_p.R251C|CEP120_ENST00000328236.5_Missense_Mutation_p.R251C|CEP120_ENST00000306481.6_Missense_Mutation_p.R225C			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	251					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)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CTACGGATGCGAACTGATGCT	0.403																																							0											0													133	131	131					5																	122729053		1889	4137	6026	SO:0001583	missense	0			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.751C>T	5.37:g.122729053G>A	ENSP00000303058:p.Arg251Cys		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	pfam_DUF3668,superfamily_C2_dom	p.R251C	ENST00000306467.5	37	c.751	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984590	0.74474	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.56103	1.8;1.8;1.79;0.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75175	-0.3410	10	0.87932	D	0	-4.5163	13.2982	0.60309	0.0:0.0:0.7234:0.2766	.	251	Q8N960	CE120_HUMAN	C	251;251;225;225;251	ENSP00000303058:R251C;ENSP00000327504:R251C;ENSP00000307419:R225C;ENSP00000421620:R225C	ENSP00000303058:R251C	R	-	1	0	CEP120	122756952	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.965000	0.63708	2.702000	0.92279	0.591000	0.81541	CGC	0	NULL		0.403	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	protein_coding	OTTHUMT00000250899.2	147	221	0.68	0.00	1	0	G	NM_153223	0	0		122729053	-1	no_errors	ENST00000306467	ensembl	human	known	74_37	missense	116	149	47.27	52.24	104	163	SNP	1	A	A	122729053	G	A	122729053	3	1	47	1	0	0	0	0	1	0	0	0	3246	1058	37	2	2269	2	CEP120	5	122729053	Missense_Mutation	SNP	G	TCGA-X7-A8M3-01A-11D-A423-09	57860939	122729053	58186207	7	510											
PCDHB11	56125	genome.wustl.edu	37	chr5	140580692	140580692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgacgtcaatgacaacgccCccaccttcacccaaacctcc	11	6	4	20	2	2	2	2	2	0	0	3	2	3	2	6	0	2	0	6	0	3	1	rs116689702	byFrequency	TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr5:140580692C>A	ENST00000354757.3	+	1	1345	c.1345C>A	c.(1345-1347)Ccc>Acc	p.P449T	PCDHB11_ENST00000536699.1_Missense_Mutation_p.P84T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	449	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			TGACAACGCCCCCACCTTCAC	0.567																																							0											0													147	131	137					5																	140580692		2203	4300	6503	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1345C>A	5.37:g.140580692C>A	ENSP00000346802:p.Pro449Thr		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P449T	ENST00000354757.3	37	c.1345	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740185	0.69304	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	D;D	0.84730	-1.89;-1.89	2.52	2.52	0.30459	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.95818	0.8639	H	0.99842	4.835	0.45261	D	0.998267	D	0.89917	1.0	D	0.97110	1.0	D	0.96715	0.9528	9	0.87932	D	0	.	13.0768	0.59091	0.0:1.0:0.0:0.0	.	449	Q9Y5F2	PCDBB_HUMAN	T	84;449	ENSP00000440344:P84T;ENSP00000346802:P449T	ENSP00000346802:P449T	P	+	1	0	PCDHB11	140560876	1.000000	0.71417	0.604000	0.28916	0.016000	0.09150	7.540000	0.82074	1.417000	0.47077	0.306000	0.20318	CCC	0	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.567	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	protein_coding	OTTHUMT00000251813.1	124	15	0	0.00	0	0	C	NM_018931	0	0		140580692	1	no_errors	ENST00000354757	ensembl	human	known	74_37	missense	60	15	55.56	48.28	75	14	SNP	0.993	A	A	140580692	C	A	140580692	3	1	47	1	0	0	0	0	1	0	0	0	11536	623	22	5	1347	5	PCDHB11	5	140580692	Missense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09	17851639	140580692	40334568	8	511											
EBF1	1879	genome.wustl.edu	37	chr5	158523987	158523987	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcgcccacttactttttCcttctccacgaaccccacaa	8	11	4	18	2	1	0	0	0	1	0	3	1	2	0	5	0	3	1	5	0	3	4			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr5:158523987C>A	ENST00000313708.6	-	2	568	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	EBF1_ENST00000380654.4_Nonsense_Mutation_p.E96*|EBF1_ENST00000517373.1_Nonsense_Mutation_p.E96*|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	96					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)			CTTACTTTTTCCTTCTCCACG	0.642			T	HMGA2	lipoma																																		0		Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													62	51	55					5																	158523987		2203	4300	6503	SO:0001587	stop_gained	0			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.286G>T	5.37:g.158523987C>A	ENSP00000322898:p.Glu96*		Q8IW11	Nonsense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.E96*	ENST00000313708.6	37	c.286	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.741490	0.98935	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.2458	19.6909	0.96000	0.0:1.0:0.0:0.0	.	.	.	.	X	96	.	ENSP00000322898:E96X	E	-	1	0	EBF1	158456565	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.797000	0.85911	2.643000	0.89663	0.561000	0.74099	GAA	0	NULL		0.642	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	protein_coding	OTTHUMT00000252649.1	73	141	0	0.00	0	0	C	NM_024007	0	0		158523987	-1	no_errors	ENST00000313708	ensembl	human	known	74_37	nonsense	35	135	37.93	38.64	22	85	SNP	1	A	A	158523987	C	A	158523987	4	1	47	1	0	0	0	0	0	1	0	0	4880	864	30	5	1549	5	EBF1	5	158523987	Nonsense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09	17943295	158523987	22391273	9	512											
B4GALT7	11285	genome.wustl.edu	37	chr5	177036622	177036622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactgccctgtctgtgggcGgggccccctgcactgtcctc	2	9	13	17	1	1	0	0	0	1	0	3	0	2	0	4	3	2	2	4	3	0	0	rs145082497	byFrequency	TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr5:177036622G>A	ENST00000029410.5	+	6	1021	c.910G>A	c.(910-912)Ggg>Agg	p.G304R	RP11-1277A3.1_ENST00000499900.2_RNA	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	304					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	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)			GTCTGTGGGCGGGGCCCCCTG	0.592																																							0											0								G	ARG/GLY	5,4401		0,5,2198	77	74	75		910	5.2	1	5	dbSNP_134	75	0,8600		0,0,4300	yes	missense	B4GALT7	NM_007255.2	125	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	possibly-damaging	304/328	177036622	5,13001	2203	4300	6503	SO:0001583	missense	0			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"Beta 4-glycosyltransferases"	930	protein-coding gene	gene with protein product	"galactosyltransferase I"	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.910G>A	5.37:g.177036622G>A	ENSP00000029410:p.Gly304Arg		B3KN39|Q9UHN2	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.G304R	ENST00000029410.5	37	c.910	CCDS4429.1	5	.	.	.	.	.	.	.	.	.	.	.	25.7	4.661961	0.88251	0.001135	0.0	ENSG00000027847	ENST00000029410;ENST00000541139	T	0.72282	-0.64	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.88031	2.925	0.80722	D	1	D	0.57571	0.98	P	0.44422	0.449	T	0.78398	-0.2219	10	0.24483	T	0.36	-36.738	16.596	0.84796	0.0:0.0:1.0:0.0	.	304	Q9UBV7	B4GT7_HUMAN	R	304;190	ENSP00000029410:G304R	ENSP00000029410:G304R	G	+	1	0	B4GALT7	176969228	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	5.905000	0.69893	2.586000	0.87340	0.561000	0.74099	GGG	0	NULL		0.592	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT7	protein_coding	OTTHUMT00000253421.1	64	125	0	0.00	0	0	G	NM_007255	rs145082497	G->A		177036622	1	no_errors	ENST00000029410	ensembl	human	known	74_37	missense	24	61	33.33	55.07	12	76	SNP	1	A	A	177036622	G	A	177036622	3	1	47	1	0	0	0	0	1	0	0	0	1276	1116	39	2	932	2	B4GALT7	5	177036622	Missense_Mutation	SNP	G	TCGA-X7-A8M3-01A-11D-A423-09	18512635	177036622	3878638	10	513											
BAG2	9532	genome.wustl.edu	37	chr6	57048769	57048769	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcatttaatgtcgctctaCagtgcatgttcatctgaggt	9	15	9	8	1	4	1	2	1	2	0	5	1	4	1	0	1	2	3	0	1	2	4			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr6:57048769C>G	ENST00000370693.5	+	3	789	c.417C>G	c.(415-417)taC>taG	p.Y139*	BAG2_ENST00000545080.1_Nonsense_Mutation_p.Y106*	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	139	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGTCGCTCTACAGTGCATGTT	0.408																																							0											0													139	134	136					6																	57048769		2203	4300	6503	SO:0001587	stop_gained	0			AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.417C>G	6.37:g.57048769C>G	ENSP00000359727:p.Tyr139*		B4DXE2|Q08AS9|Q6FID0	Nonsense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.Y139*	ENST00000370693.5	37	c.417	CCDS4961.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.736456	0.96865	.	.	ENSG00000112208	ENST00000370693;ENST00000438730;ENST00000545080	.	.	.	6.06	5.09	0.68999	.	0.096387	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-15.8498	6.8269	0.23889	0.0:0.7364:0.0:0.2636	.	.	.	.	X	139;88;106	.	ENSP00000359727:Y139X	Y	+	3	2	BAG2	57156728	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.516000	0.22817	2.879000	0.98667	0.650000	0.86243	TAC	0	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain		0.408	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG2	protein_coding	OTTHUMT00000041044.2	64	196	0	0.51	0	1	C		0	0		57048769	1	no_errors	ENST00000370693	ensembl	human	known	74_37	nonsense	40	113	9.09	8.80	4	11	SNP	1	G	G	57048769	C	G	57048769	4	3	47	1	0	0	0	0	0	1	0	0	1287	489	17	5	427	5	BAG2	6	57048769	Nonsense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09		57048769	114066298	11	514											
L3MBTL3	84456	genome.wustl.edu	37	chr6	130425690	130425690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaataaaaggacagatgCaaatgaaagctcttcttccc	18	8	7	8	0	2	3	0	1	2	2	3	4	3	4	1	1	2	2	1	1	6	3			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr6:130425690C>G	ENST00000529410.1	+	21	2335	c.1856C>G	c.(1855-1857)gCa>gGa	p.A619G	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.A594G|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.A594G|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.A594G|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.A619G|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.A619G			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	619					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)		AGGACAGATGCAAATGAAAGC	0.348																																							0											0													102	105	104					6																	130425690		2203	4300	6503	SO:0001583	missense	0			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.1856C>G	6.37:g.130425690C>G	ENSP00000431962:p.Ala619Gly		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.A619G	ENST00000529410.1	37	c.1856	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	C	7.175	0.588461	0.13812	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.15017	2.47;2.46;2.47;2.46;2.46;2.47	6.17	5.14	0.70334	.	0.432061	0.28414	N	0.015437	T	0.03263	0.0095	N	0.14661	0.345	0.28378	N	0.919691	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37174	-0.9717	10	0.20519	T	0.43	.	8.8575	0.35236	0.0:0.7575:0.1552:0.0873	.	594;619	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	G	619;594;619;594;594;619	ENSP00000431962:A619G;ENSP00000437185:A594G;ENSP00000354526:A619G;ENSP00000357121:A594G;ENSP00000436706:A594G;ENSP00000357118:A619G	ENSP00000354526:A619G	A	+	2	0	L3MBTL3	130467383	0.078000	0.21339	0.999000	0.59377	0.320000	0.28249	0.430000	0.21428	2.941000	0.99782	0.655000	0.94253	GCA	0	NULL		0.348	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	protein_coding	OTTHUMT00000042195.2	93	279	0	0.00	0	0	C	XM_027074	0	0		130425690	1	no_errors	ENST00000361794	ensembl	human	known	74_37	missense	6	17	91.18	91.50	62	183	SNP	0.975	G	G	130425690	C	G	130425690	3	3	47	1	0	0	0	0	1	0	0	0	8593	710	25	5	1922	5	L3MBTL3	6	130425690	Missense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09	73376921	130425690	40689377	12	515											
TOPORS	10210	genome.wustl.edu	37	chr9	32543745	32543745	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcacgataaagagttcGtctaaaattaataatatctt	17	12	5	7	2	2	1	0	0	2	1	3	2	2	1	1	0	1	2	1	0	7	7			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr9:32543745G>A	ENST00000360538.2	-	3	894	c.778C>T	c.(778-780)Cga>Tga	p.R260*	TOPORS_ENST00000379858.1_Nonsense_Mutation_p.R195*	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	260	Required for DNA-binding.				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)		TAAAGAGTTCGTCTAAAATTA	0.398																																							0											0													82	89	87					9																	32543745		2203	4300	6503	SO:0001587	stop_gained	0			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.778C>T	9.37:g.32543745G>A	ENSP00000353735:p.Arg260*		O43273|Q6P987|Q9NS55|Q9UNR9	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R260*	ENST00000360538.2	37	c.778	CCDS6527.1	9	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651449	0.88056	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	.	.	.	5.93	1.5	0.22942	.	0.000000	0.40908	D	0.000995	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.9253	8.3159	0.32100	0.0809:0.0:0.3066:0.6125	.	.	.	.	X	260;195	.	ENSP00000353735:R260X	R	-	1	2	TOPORS	32533745	0.989000	0.36119	0.942000	0.38095	0.974000	0.67602	1.845000	0.39279	0.364000	0.24374	-0.150000	0.13652	CGA	0	NULL		0.398	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	protein_coding	OTTHUMT00000052007.1	51	226	0	0.00	0	0	G	NM_005802	0	0		32543745	-1	no_errors	ENST00000360538	ensembl	human	known	74_37	nonsense	9	109	47.06	20.86	8	29	SNP	0.971	A	A	32543745	G	A	32543745	4	1	47	1	0	0	0	0	0	1	0	0	16367	1153	40	1	2363	1	TOPORS	9	32543745	Nonsense_Mutation	SNP	G	TCGA-X7-A8M3-01A-11D-A423-09		32543745	108669686	13	516											
INCENP	3619	genome.wustl.edu	37	chr11	61897414	61897414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgcggctaccatggcattgGctgcaccttcttcacccacc	6	9	8	18	2	2	0	1	0	1	0	2	0	2	0	5	3	2	4	5	3	1	4			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr11:61897414G>A	ENST00000394818.3	+	4	617	c.415G>A	c.(415-417)Gct>Act	p.A139T	INCENP_ENST00000278849.4_Missense_Mutation_p.A139T	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	139					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						CATGGCATTGGCTGCACCTTC	0.632																																							0											0													63	63	63					11																	61897414		2202	4299	6501	SO:0001583	missense	0			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.415G>A	11.37:g.61897414G>A	ENSP00000378295:p.Ala139Thr		A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.A139T	ENST00000394818.3	37	c.415	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745388	0.30955	.	.	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.23950	2.42;1.88;2.43	3.39	0.505	0.16953	.	2.122320	0.02951	N	0.141729	T	0.25457	0.0619	N	0.08118	0	0.09310	N	1	D;B;B	0.67145	0.996;0.06;0.036	P;B;B	0.62740	0.906;0.019;0.008	T	0.33420	-0.9869	10	0.20519	T	0.43	.	5.8721	0.18809	0.3317:0.0:0.6683:0.0	.	139;139;139	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	T	139	ENSP00000378295:A139T;ENSP00000433100:A139T;ENSP00000278849:A139T	ENSP00000278849:A139T	A	+	1	0	INCENP	61653990	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.141000	0.16076	0.111000	0.17947	0.561000	0.74099	GCT	0	NULL		0.632	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	protein_coding	OTTHUMT00000394723.2	55	71	0	0.00	0	0	G	NM_020238	0	0		61897414	1	no_errors	ENST00000394818	ensembl	human	known	74_37	missense	23	47	14.81	6.00	4	3	SNP	0.001	A	A	61897414	G	A	61897414	3	1	47	1	0	0	0	0	1	0	0	0	7733	1203	42	3	425	3	INCENP	11	61897414	Missense_Mutation	SNP	G	TCGA-X7-A8M3-01A-11D-A423-09		61897414	73109102	14	517											
SLC22A25	387601	genome.wustl.edu	37	chr11	62931391	62931391	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggctggttcctggtttCaggaaggaggaggacaacaa	13	7	15	6	0	1	1	1	0	0	1	2	5	2	5	1	7	1	3	1	7	4	2			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr11:62931391C>A	ENST00000306494.6	-	9	1548	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	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						TTCCTGGTTTCAGGAAGGAGG	0.507																																							0											0													125	125	125					11																	62931391		2201	4298	6499	SO:0001587	stop_gained	0			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.1549G>T	11.37:g.62931391C>A	ENSP00000307443:p.Glu517*			Nonsense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E517*	ENST00000306494.6	37	c.1549	CCDS31592.1	11	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996559	0.74818	.	.	ENSG00000196600	ENST00000306494	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.6056	0.62046	0.0:1.0:0.0:0.0	.	.	.	.	X	517	.	ENSP00000307443:E517X	E	-	1	0	SLC22A25	62687967	0.998000	0.40836	0.998000	0.56505	0.480000	0.33159	3.540000	0.53611	2.341000	0.79615	0.586000	0.80456	GAA	0	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.507	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A25	protein_coding	OTTHUMT00000383519.3	66	142	0	0.00	0	0	C	NM_199352	0	0		62931391	-1	no_errors	ENST00000306494	ensembl	human	known	74_37	nonsense	4	15	89.19	83.52	33	76	SNP	1	A	A	62931391	C	A	62931391	4	1	47	1	0	0	0	0	0	1	0	0	14454	835	29	5	98	5	SLC22A25	11	62931391	Nonsense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09	1033977	62931391	72075125	15	518											
MAP6	4135	genome.wustl.edu	37	chr11	75298357	75298357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttggaggctgtaggactGtggggccttgatccttaact	6	14	13	8	0	1	1	0	1	1	0	2	3	2	3	2	5	1	2	2	5	2	4			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr11:75298357G>T	ENST00000304771.3	-	4	2939	c.2189C>A	c.(2188-2190)aCa>aAa	p.T730K	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.T401K|MAP6_ENST00000526689.1_5'Flank	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	730	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CTGTAGGACTGTGGGGCCTTG	0.498																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)		0											0													155	157	156					11																	75298357		2200	4293	6493	SO:0001583	missense	0			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.2189C>A	11.37:g.75298357G>T	ENSP00000307093:p.Thr730Lys		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	pfam_MAP6/FAM154	p.T730K	ENST00000304771.3	37	c.2189	CCDS31641.1	11	.	.	.	.	.	.	.	.	.	.	G	4.135	0.023451	0.08006	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.46063	0.88	4.55	-0.908	0.10517	.	2.055920	0.01889	N	0.038404	T	0.19366	0.0465	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20174	-1.0283	10	0.05721	T	0.95	2.204	4.8152	0.13363	0.4684:0.1682:0.3634:0.0	.	730	Q96JE9	MAP6_HUMAN	K	730;401;401	ENSP00000307093:T730K	ENSP00000307093:T730K	T	-	2	0	MAP6	74976005	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.275000	0.08525	0.034000	0.15491	-0.238000	0.12139	ACA	0	NULL		0.498	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP6	protein_coding	OTTHUMT00000383527.1	116	242	0	0.00	0	0	G	NM_033063	0	0		75298357	-1	no_errors	ENST00000304771	ensembl	human	known	74_37	missense	2	29	94.87	87.34	37	200	SNP	0.001	T	T	75298357	G	T	75298357	3	4	47	1	0	0	0	0	1	0	0	0	9264	1377	48	5	256	5	MAP6	11	75298357	Missense_Mutation	SNP	G	TCGA-X7-A8M3-01A-11D-A423-09	12366966	75298357	59708159	16	519											
APOA5	116519	genome.wustl.edu	37	chr11	116661131	116661132	+	In_Frame_Ins	INS	-	-	GCC																															gagagcatctgggggtccggINSgccggccccttcctcagtcc																										TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	-	-	-	GCC	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr11:116661131_116661132insGCC	ENST00000227665.4	-	3	847_848	c.813_814insGGC	c.(811-816)ggcccg>ggcGGCccg	p.271_272insG	APOA5_ENST00000542499.1_In_Frame_Ins_p.271_272insG|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	271					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)		TGGGGGTCCGGGCCGGCCCCTT	0.653																																							0											0																																										SO:0001652	inframe_insertion	0			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.811_813dupGGC	11.37:g.116661132_116661134dupGCC	ENSP00000227665:p.Gly271_Gly271dup		B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	In_Frame_Ins	INS	pfam_ApoA1_A4_E	p.271in_frame_insG	ENST00000227665.4	37	c.814_813	CCDS8376.2	11																																																																																			0	pfam_ApoA1_A4_E		0.653	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA5	protein_coding	OTTHUMT00000106285.2	37	42	0	0.00	0	0	0		0	0		116661132	-1	no_errors	ENST00000227665	ensembl	human	known	74_37	in_frame_ins	1	9	92.31	72.73	12	24	INS	0.005:0.000	GCC	GCC	116661132	-	GCC	116661131	7	5	47	1	0	1	1	0	0	0	0	0	784	1232	43	0	290	0	APOA5	11	116661131	In_Frame_Ins	INS	-	TCGA-X7-A8M3-01A-11D-A423-09	41362774	116661131	18345385	17	520											
PZP	5858	genome.wustl.edu	37	chr12	9353546	9353546	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgattctgtctgtaccacCaccctgtaggagccctgaat	8	11	8	14	0	2	2	0	2	2	0	2	3	2	3	5	1	2	2	5	1	3	3	rs138554768		TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr12:9353546C>A	ENST00000261336.2	-	6	640	c.612G>T	c.(610-612)gtG>gtT	p.V204V	PZP_ENST00000381997.2_Silent_p.V73V	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	204					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						TCTGTACCACCACCCTGTAGG	0.473																																					Melanoma(125;1402 1695 4685 34487 38571)		0											0													144	139	141					12																	9353546		2203	4300	6503	SO:0001819	synonymous_variant	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.612G>T	12.37:g.9353546C>A			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.V204	ENST00000261336.2	37	c.612	CCDS8600.1	12																																																																																			0	pfam_A2M_N		0.473	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	protein_coding	OTTHUMT00000337624.1	48	118	0	0.84	0	1	C	NM_002864	0	0		9353546	-1	no_errors	ENST00000261336	ensembl	human	known	74_37	silent	0	11	100	88.78	20	87	SNP	0.635	A	A	9353546	C	A	9353546	2	1	47	1	0	0	0	0	0	0	0	1	12869	581	21	5		5	PZP	12	9353546	Silent	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09		9353546	124498349	18	521											
RFXAP	5994	genome.wustl.edu	37	chr13	37393923	37393923	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagcaagacctgcacctaCgaaggctgcagcgagaccac	13	4	11	13	2	0	3	0	1	0	2	0	5	0	3	3	1	5	4	3	1	3	1			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr13:37393923C>G	ENST00000255476.2	+	1	563	c.429C>G	c.(427-429)taC>taG	p.Y143*		NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	143					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		CCTGCACCTACGAAGGCTGCA	0.617																																							0											0													33	28	30					13																	37393923		2196	4294	6490	SO:0001587	stop_gained	0			Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.429C>G	13.37:g.37393923C>G	ENSP00000255476:p.Tyr143*		B2R9T8|Q5VZM6|Q8TC40	Nonsense_Mutation	SNP	NULL	p.Y143*	ENST00000255476.2	37	c.429	CCDS9359.1	13	.	.	.	.	.	.	.	.	.	.	c	26.6	4.748972	0.89753	.	.	ENSG00000133111	ENST00000255476	.	.	.	4.62	2.87	0.33458	.	0.205103	0.43416	D	0.000575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9664	10.0815	0.42393	0.0:0.8313:0.0:0.1687	.	.	.	.	X	143	.	ENSP00000255476:Y143X	Y	+	3	2	RFXAP	36291923	0.999000	0.42202	0.986000	0.45419	0.192000	0.23643	0.596000	0.24044	0.552000	0.29026	0.645000	0.84053	TAC	0	NULL		0.617	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFXAP	protein_coding	OTTHUMT00000044521.1	38	30	0	0.00	0	0	C	NM_000538	0	0		37393923	1	no_errors	ENST00000255476	ensembl	human	known	74_37	nonsense	0	1	100	96.77	26	30	SNP	1	G	G	37393923	C	G	37393923	4	3	47	1	0	0	0	0	0	1	0	0	13270	547	19	5	431	5	RFXAP	13	37393923	Nonsense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09		37393923	77775955	19	522											
SHC4	399694	genome.wustl.edu	37	chr15	49135615	49135615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctacttacttccgcagtGccatgggctccccagtggtt	6	12	10	13	1	0	0	0	0	0	0	2	0	2	0	4	2	4	4	4	2	3	5			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr15:49135615G>T	ENST00000332408.4	-	10	1902	c.1474C>A	c.(1474-1476)Cac>Aac	p.H492N	SHC4_ENST00000537958.1_Missense_Mutation_p.H206N|SHC4_ENST00000396535.3_Missense_Mutation_p.H249N	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	492	CH1.				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)		CTTCCGCAGTGCCATGGGCTC	0.443																																							0											0													150	147	148					15																	49135615		2197	4295	6492	SO:0001583	missense	0			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.1474C>A	15.37:g.49135615G>T	ENSP00000329668:p.His492Asn		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.H492N	ENST00000332408.4	37	c.1474	CCDS10130.1	15	.	.	.	.	.	.	.	.	.	.	G	10.43	1.346738	0.24426	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.29142	3.59;1.58;1.59	5.0	3.13	0.36017	.	0.918572	0.09276	N	0.824418	T	0.21062	0.0507	L	0.29908	0.895	0.09310	N	1	B;B	0.25904	0.137;0.017	B;B	0.29077	0.098;0.028	T	0.35822	-0.9773	10	0.15499	T	0.54	-4.4269	6.0199	0.19623	0.1633:0.0:0.6861:0.1506	.	249;492	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	N	492;249;206	ENSP00000329668:H492N;ENSP00000379786:H249N;ENSP00000443300:H206N	ENSP00000329668:H492N	H	-	1	0	SHC4	46922907	0.912000	0.30974	0.802000	0.32245	0.681000	0.39784	1.414000	0.34736	0.698000	0.31739	-0.142000	0.14014	CAC	0	NULL		0.443	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	protein_coding	OTTHUMT00000254371.1	53	191	0	0.00	0	0	G	NM_203349	0	0		49135615	-1	no_errors	ENST00000332408	ensembl	human	known	74_37	missense	3	11	88	89.00	22	89	SNP	0.095	T	T	49135615	G	T	49135615	3	4	47	1	0	0	0	0	1	0	0	0	14273	1319	46	5	430	5	SHC4	15	49135615	Missense_Mutation	SNP	G	TCGA-X7-A8M3-01A-11D-A423-09		49135615	53395777	20	523											
HSD11B2	3291	genome.wustl.edu	37	chr16	67470564	67470564	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctgcctcaagagctgctGcaggcctacggcaaggacta	11	6	11	13	1	1	1	1	0	0	1	1	2	1	2	3	3	6	4	3	3	5	2			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr16:67470564G>A	ENST00000326152.5	+	5	1008	c.876G>A	c.(874-876)ctG>ctA	p.L292L	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	292					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		AAGAGCTGCTGCAGGCCTACG	0.577																																							0											0													85	74	78					16																	67470564		2198	4300	6498	SO:0001819	synonymous_variant	0			U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5209	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 3"	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.876G>A	16.37:g.67470564G>A			A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH	p.L292	ENST00000326152.5	37	c.876	CCDS10837.1	16																																																																																			0	NULL		0.577	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B2	protein_coding	OTTHUMT00000268826.3	68	52	0	0.00	0	0	G	NM_000196	0	0		67470564	1	no_errors	ENST00000326152	ensembl	human	known	74_37	silent	3	4	87.5	88.57	21	31	SNP	0.987	A	A	67470564	G	A	67470564	2	1	47	1	0	0	0	0	0	0	0	1	7377	1306	46	3		3	HSD11B2	16	67470564	Silent	SNP	G	TCGA-X7-A8M3-01A-11D-A423-09		67470564	22884189	21	524											
COX4NB	10328	genome.wustl.edu	37	chr16	85832706	85832706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagcatgggggcgagggCcagggtgccgtggaagaggg	7	4	21	9	2	0	1	0	0	0	1	1	3	1	2	3	6	2	1	3	6	1	0			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr16:85832706C>A	ENST00000253457.3	-	1	440	c.196G>T	c.(196-198)Gcc>Tcc	p.A66S	COX4I1_ENST00000562336.1_5'Flank|COX4I1_ENST00000561569.1_5'Flank|COX4I1_ENST00000253452.2_5'Flank|COX4I1_ENST00000564903.1_5'Flank|EMC8_ENST00000435200.2_Missense_Mutation_p.A66S|COX4I1_ENST00000568794.1_5'Flank	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	66						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GGGGCGAGGGCCAGGGTGCCG	0.692																																							0											0													9	10	10					16																	85832706		2175	4268	6443	SO:0001583	missense	0			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.196G>T	16.37:g.85832706C>A	ENSP00000253457:p.Ala66Ser		C9JB21	Missense_Mutation	SNP	pfam_UPF0172	p.A66S	ENST00000253457.3	37	c.196	CCDS10954.1	16	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422600	0.43020	.	.	ENSG00000131148	ENST00000253457;ENST00000435200	T;T	0.47528	0.84;0.84	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.27053	0.805	0.80722	D	1	B	0.16166	0.016	B	0.15870	0.014	T	0.12734	-1.0536	10	0.08381	T	0.77	-12.4928	14.6775	0.68993	0.1459:0.8541:0.0:0.0	.	66	O43402	CX4NB_HUMAN	S	66	ENSP00000253457:A66S;ENSP00000391730:A66S	ENSP00000253457:A66S	A	-	1	0	COX4NB	84390207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.116000	0.57871	2.469000	0.83416	0.650000	0.86243	GCC	0	pfam_UPF0172		0.692	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC8	protein_coding	OTTHUMT00000269099.1	23	5	0	0.00	0	0	C	NM_006067	0	0		85832706	-1	no_errors	ENST00000253457	ensembl	human	known	74_37	missense	1	6	80	81.82	4	27	SNP	1	A	A	85832706	C	A	85832706	3	1	47	1	0	0	0	0	1	0	0	0	3771	739	26	5	456	5	COX4NB	16	85832706	Missense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09	18362142	85832706	4522047	22	525											
ZNF492	57615	genome.wustl.edu	37	chr19	22847765	22847765	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggcaaagcttttaacCagtcctcaactctttctaaa	13	13	5	10	0	3	0	1	0	2	0	4	0	4	0	2	1	3	2	2	1	6	4			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr19:22847765C>T	ENST00000456783.2	+	4	1538	c.1294C>T	c.(1294-1296)Cag>Tag	p.Q432*	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	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)			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)				AGCTTTTAACCAGTCCTCAAC	0.378																																							0											0													20	24	23					19																	22847765		1794	3878	5672	SO:0001587	stop_gained	0			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.1294C>T	19.37:g.22847765C>T	ENSP00000413660:p.Gln432*		Q08EI7|Q08EI8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q432*	ENST00000456783.2	37	c.1294	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	16.57	3.158973	0.57368	.	.	ENSG00000229676	ENST00000456783	.	.	.	1.12	-2.25	0.06888	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	0.1765	0.00119	0.2145:0.2077:0.214:0.3639	.	.	.	.	X	432	.	ENSP00000413660:Q432X	Q	+	1	0	ZNF492	22639605	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.527000	0.06200	-0.812000	0.04363	-0.798000	0.03219	CAG	0	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	45	6	0	0.00	0	0	C	NM_020855	0	0		22847765	1	no_errors	ENST00000456783	ensembl	human	known	74_37	nonsense	60	1	41.9	66.67	44	2	SNP	0	T	T	22847765	C	T	22847765	4	4	47	1	0	0	0	0	0	1	0	0	17940	595	21	3	1304	3	ZNF492	19	22847765	Nonsense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09		22847765	36281218	23	526											
AXL	558	genome.wustl.edu	37	chr19	41743942	41743942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatccgtgcccccccatCagcttcggctaggcagcctc	7	7	9	18	2	1	0	1	0	0	0	4	0	2	0	5	2	4	4	5	2	2	2			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr19:41743942C>A	ENST00000301178.4	+	7	1067	c.877C>A	c.(877-879)Cag>Aag	p.Q293K	AXL_ENST00000359092.3_Missense_Mutation_p.Q293K|AXL_ENST00000593513.1_Missense_Mutation_p.Q25K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	293	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						GCCCCCCCATCAGCTTCGGCT	0.642																																							0											0													104	106	106					19																	41743942		2203	4300	6503	SO:0001583	missense	0			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.877C>A	19.37:g.41743942C>A	ENSP00000301178:p.Gln293Lys		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.Q293K	ENST00000301178.4	37	c.877	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	c	0.233	-1.019721	0.02078	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.56941	0.43;0.43	4.26	1.87	0.25490	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.950152	0.08675	U	0.910290	T	0.38931	0.1059	L	0.44542	1.39	0.25579	N	0.986816	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.32348	-0.9910	10	0.06099	T	0.92	-0.9035	8.3703	0.32410	0.1731:0.6582:0.1687:0.0	.	293;293	P30530-2;P30530	.;UFO_HUMAN	K	293	ENSP00000301178:Q293K;ENSP00000351995:Q293K	ENSP00000301178:Q293K	Q	+	1	0	AXL	46435782	0.822000	0.29219	0.474000	0.27266	0.345000	0.29048	1.540000	0.36115	1.089000	0.41292	0.448000	0.29417	CAG	0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.642	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	protein_coding	OTTHUMT00000463323.2	33	99	0	0.00	0	0	C		0	0		41743942	1	no_errors	ENST00000301178	ensembl	human	known	74_37	missense	11	98	47.62	43.02	10	74	SNP	0.772	A	A	41743942	C	A	41743942	3	1	47	1	0	0	0	0	1	0	0	0	1238	827	29	5	903	5	AXL	19	41743942	Missense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09	18896177	41743942	17385041	24	527											
RIMBP3	85376	genome.wustl.edu	37	chr22	20458238	20458238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcaagatataccacatGggggtggcggtggctgctgt	8	10	15	8	1	2	1	2	0	0	1	2	1	2	1	1	5	2	2	1	5	3	2			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr22:20458238G>T	ENST00000426804.1	-	1	3548	c.3064C>A	c.(3064-3066)Cat>Aat	p.H1022N	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1022	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)			TATACCACATGGGGGTGGCGG	0.627																																							0											0													6	10	9					22																	20458238		1711	3883	5594	SO:0001583	missense	0			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.3064C>A	22.37:g.20458238G>T	ENSP00000391564:p.His1022Asn		Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.H1022N	ENST00000426804.1	37	c.3064	CCDS46665.1	22	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655292	0.29425	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.53640	0.61	3.56	3.56	0.40772	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.80422	2.495	0.42816	D	0.993976	D	0.89917	1.0	D	0.87578	0.998	T	0.69793	-0.5049	10	0.87932	D	0	-18.1162	8.5	0.33152	0.0:0.0:0.7683:0.2317	.	928	Q9UFD9	RIM3A_HUMAN	N	928;1022	ENSP00000391564:H1022N	ENSP00000347318:H928N	H	-	1	0	RIMBP3	18838238	1.000000	0.71417	0.038000	0.18304	0.039000	0.13416	8.568000	0.90741	1.999000	0.58509	0.398000	0.26397	CAT	0	superfamily_Fibronectin_type3		0.627	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	protein_coding	OTTHUMT00000318945.2	108	156	0	0.00	0	0	G	NM_015672	0	0		20458238	-1	no_errors	ENST00000426804	ensembl	human	known	74_37	missense	84	187	20	16.07	21	36	SNP	0.697	T	T	20458238	G	T	20458238	3	4	47	1	0	0	0	0	1	0	0	0	13364	1348	47	5	1859	5	RIMBP3	22	20458238	Missense_Mutation	SNP	G	TCGA-X7-A8M3-01A-11D-A423-09		20458238	30846328	25	528											
GATSL3	652968	genome.wustl.edu	37	chr22	30681675	30681675	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgataccgtcctcgggCacctgagggcaggtgggcag	6	6	16	13	3	0	1	0	1	0	0	2	2	1	1	4	4	2	3	4	4	1	1			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr22:30681675C>A	ENST00000407689.3	-	9	1053	c.924G>T	c.(922-924)gtG>gtT	p.V308V	GATSL3_ENST00000404953.3_Silent_p.V270V|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_Intron	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	308										breast(1)|endometrium(1)|lung(1)	3						CGTCCTCGGGCACCTGAGGGC	0.682																																							0											0													10	13	12					22																	30681675		2018	4146	6164	SO:0001819	synonymous_variant	0				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.924G>T	22.37:g.30681675C>A			O76052|Q96ND9|Q9UIE8	Silent	SNP	NULL	p.V308	ENST00000407689.3	37	c.924	CCDS43001.1	22																																																																																			0	NULL		0.682	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATSL3	protein_coding	OTTHUMT00000320581.2	79	40	0	0.00	0	0	C	NM_001037666	0	0		30681675	-1	no_errors	ENST00000407689	ensembl	human	known	74_37	silent	44	28	42.86	49.09	33	27	SNP	1	A	A	30681675	C	A	30681675	2	1	47	1	0	0	0	0	0	0	0	1	6265	697	25	5		5	GATSL3	22	30681675	Silent	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09	10223437	30681675	20622891	26	529											
CBY1	25776	genome.wustl.edu	37	chr22	39069240	39069240	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagccggaagagaaaatGaagaccccagagacatttat	17	6	10	8	1	1	4	1	1	0	3	1	8	1	5	3	1	1	0	3	1	5	2			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chr22:39069240G>T	ENST00000216029.3	+	5	514	c.380G>T	c.(379-381)tGa>tTa	p.*127L	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	0					cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AAGAGAAAATGAAGACCCCAG	0.458																																							0											0													78	70	73					22																	39069240		2203	4300	6503	SO:0001578	stop_lost	0			BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"chibby CTNNB1-mediated transcription inhibitor"	607757	"chromosome 22 open reading frame 2", "PKD2 interactor, golgi and endoplasmic reticulum associated 1"	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.380G>T	22.37:g.39069240G>T	ENSP00000216029:p.*127Leuext*32		B2R4S2|Q66GT6|Q9UIK9	Nonstop_Mutation	SNP	NULL	p.*127L	ENST00000216029.3	37	c.380	CCDS13974.1	22	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530147	0.45073	.	.	ENSG00000100211	ENST00000396811;ENST00000216029	.	.	.	5.48	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3975	0.55393	0.0771:0.0:0.9229:0.0	.	.	.	.	L	127	.	.	X	+	2	2	CBY1	37399186	1.000000	0.71417	0.998000	0.56505	0.569000	0.35902	4.392000	0.59659	1.317000	0.45149	0.655000	0.94253	TGA	0	NULL		0.458	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBY1	protein_coding	OTTHUMT00000320832.1	95	193	0	0.00	0	0	G	NM_015373	0	0		39069240	1	no_errors	ENST00000216029	ensembl	human	known	74_37	nonstop	69	186	34.29	34.51	36	98	SNP	1	T	T	39069240	G	T	39069240	4	4	47	1	0	0	0	0	0	0	0	0	2725	1285	45	5	394	5	CBY1	22	39069240	Nonstop_Mutation	SNP	G	TCGA-X7-A8M3-01A-11D-A423-09	8387565	39069240	12235326	27	530											
MAGEB16	139604	genome.wustl.edu	37	chrX	35820519	35820519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggttcctcagagtttctGctcctcttccattgccgtca	5	15	8	13	1	4	2	2	1	2	1	7	2	7	2	4	1	2	3	4	1	0	4			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chrX:35820519G>T	ENST00000399989.1	+	2	485	c.206G>T	c.(205-207)tGc>tTc	p.C69F	MAGEB16_ENST00000399988.1_Missense_Mutation_p.C69F|MAGEB16_ENST00000399985.1_Missense_Mutation_p.C69F|MAGEB16_ENST00000399987.1_Missense_Mutation_p.C69F|MAGEB16_ENST00000399992.1_Missense_Mutation_p.C101F	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	69										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGAGTTTCTGCTCCTCTTCC	0.512																																							0											0													50	47	48					X																	35820519		1939	4114	6053	SO:0001583	missense	0				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.206G>T	X.37:g.35820519G>T	ENSP00000382871:p.Cys69Phe		A8MU30	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.C101F	ENST00000399989.1	37	c.302	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	G	0.919	-0.716449	0.03206	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	1.91	-2.47	0.06442	Melanoma associated antigen, MAGE, N-terminal (1);	2.562580	0.01193	N	0.007392	T	0.12987	0.0315	M	0.72118	2.19	0.09310	N	1	D	0.55172	0.97	P	0.62649	0.905	T	0.46289	-0.9202	10	0.10636	T	0.68	.	2.6985	0.05141	0.4773:0.0:0.3027:0.22	.	69	A2A368	MAGBG_HUMAN	F	69;101;69;69;69	ENSP00000382870:C69F;ENSP00000382874:C101F;ENSP00000382869:C69F;ENSP00000382871:C69F;ENSP00000382867:C69F	ENSP00000382867:C69F	C	+	2	0	MAGEB16	35730440	0.000000	0.05858	0.000000	0.03702	0.551000	0.35334	-2.523000	0.00949	-0.935000	0.03728	0.521000	0.50471	TGC	0	pfam_Melanoma_ass_antigen_N		0.512	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	protein_coding	OTTHUMT00000251034.1	65	106	0	0.00	0	0	G		0	0		35820519	1	no_errors	ENST00000399992	ensembl	human	known	74_37	missense	23	76	39.47	53.66	15	88	SNP	0	T	T	35820519	G	T	35820519	3	4	47	1	0	0	0	0	1	0	0	0	9174	1319	46	5	208	5	MAGEB16	23	35820519	Missense_Mutation	SNP	G	TCGA-X7-A8M3-01A-11D-A423-09		35820519	119450041	28	531											
RPS6KA6	27330	genome.wustl.edu	37	chrX	83359602	83359602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtttgagaatacggtCaagtaactctcctcctttca	9	17	6	9	1	3	1	2	1	1	1	5	2	4	1	2	1	2	2	2	1	4	6			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chrX:83359602C>A	ENST00000262752.2	-	17	1526	c.1519G>T	c.(1519-1521)Gac>Tac	p.D507Y	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.D507Y|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	507	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGAATACGGTCAAGTAACTCT	0.333																																							0											0													85	75	78					X																	83359602		2202	4296	6498	SO:0001583	missense	0			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1519G>T	X.37:g.83359602C>A	ENSP00000262752:p.Asp507Tyr		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.D507Y	ENST00000262752.2	37	c.1519	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491439	0.84962	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.47528	0.84;0.84	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	0.69415	0.3108	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.73398	-0.3995	10	0.87932	D	0	.	18.0835	0.89451	0.0:1.0:0.0:0.0	.	507;507	B7ZL90;Q9UK32	.;KS6A6_HUMAN	Y	507	ENSP00000262752:D507Y;ENSP00000440830:D507Y	ENSP00000262752:D507Y	D	-	1	0	RPS6KA6	83246258	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.642000	0.83385	2.205000	0.71048	0.600000	0.82982	GAC	0	pfam_Prot_kinase_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		0.333	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	protein_coding	OTTHUMT00000057372.1	189	322	0	0.00	0	0	C	NM_014496	0	0		83359602	-1	no_errors	ENST00000262752	ensembl	human	known	74_37	missense	122	228	49.79	46.73	121	200	SNP	1	A	A	83359602	C	A	83359602	3	1	47	1	0	0	0	0	1	0	0	0	13655	826	29	5	742	5	RPS6KA6	23	83359602	Missense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09	47539083	83359602	71910958	29	532											
NXF2	56001	genome.wustl.edu	37	chrX	101581401	101581401	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaccgagggcaagatcccCgcagaggccttcaagcaaat	13	5	11	12	2	1	3	1	0	0	3	2	4	2	3	4	2	1	3	4	2	4	2			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chrX:101581401C>T	ENST00000372758.1	+	27	2704	c.1854C>T	c.(1852-1854)ccC>ccT	p.P618P	NXF2_ENST00000372763.1_3'UTR|NXF2_ENST00000330252.5_Silent_p.P618P|NXF2_ENST00000372757.1_Silent_p.P618P|NXF2_ENST00000395088.2_Silent_p.P618P			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	618	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|lung(2)	4						GCAAGATCCCCGCAGAGGCCT	0.507																																							0											0													142	155	151					X																	101581401		1220	2916	4136	SO:0001819	synonymous_variant	0			AJ277526	CCDS14497.1	Xq22.1	2011-05-25			ENSG00000185554				8072	protein-coding gene	gene with protein product	"cancer/testis antigen 39", "TAP like protein 2"	300315				11073998, 11279525	Standard	NM_022053		Approved	CT39, TAPL-2	uc004eix.4	Q9GZY0		ENST00000372758.1:c.1854C>T	X.37:g.101581401C>T			Q9BXU4|Q9NSS1|Q9NX66	Silent	SNP	pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.P618	ENST00000372758.1	37	c.1854	CCDS14497.1	X																																																																																			0	pfam_TAP_C_dom,superfamily_UBA-like,smart_TAP_C_dom		0.507	NXF2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2	protein_coding	OTTHUMT00000057618.1	460	219	0	0.00	0	0	C	NM_017809	0	0		101581401	1	no_errors	ENST00000330252	ensembl	human	known	74_37	silent	417	278	19.81	19.88	103	69	SNP	0.078	T	T	101581401	C	T	101581401	2	4	47	1	0	0	0	0	0	0	0	1	10783	639	23	2		2	NXF2	23	101581401	Silent	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09	18221799	101581401	53689159	30	533											
PLXNA3	55558	genome.wustl.edu	37	chrX	153696250	153696250	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccgtgctggtggcgtaCaagcgcaagactcaggacgc	10	5	14	12	4	1	1	1	0	0	1	1	2	1	2	1	3	4	3	1	3	3	1			TCGA-X7-A8M3-01A-11D-A423-09	TCGA-X7-A8M3-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	56f6fe27-c3d9-446f-a87c-901a9fa2970b	24a66c07-b335-4bc0-91ba-29f682fb82db	g.chrX:153696250C>A	ENST00000369682.3	+	21	3901	c.3726C>A	c.(3724-3726)taC>taA	p.Y1242*		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1242					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)					TGGTGGCGTACAAGCGCAAGA	0.667																																							0											0													47	48	48					X																	153696250		2202	4300	6502	SO:0001587	stop_gained	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3726C>A	X.37:g.153696250C>A	ENSP00000358696:p.Tyr1242*		Q5HY36	Nonsense_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.Y1242*	ENST00000369682.3	37	c.3726	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.292668	0.99127	.	.	ENSG00000130827	ENST00000369682	.	.	.	4.79	0.755	0.18415	.	0.000000	0.48767	U	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0571	0.36412	0.0:0.5271:0.0:0.4729	.	.	.	.	X	1242	.	ENSP00000358696:Y1242X	Y	+	3	2	PLXNA3	153349444	1.000000	0.71417	0.997000	0.53966	0.703000	0.40648	1.218000	0.32467	0.036000	0.15547	0.436000	0.28706	TAC	0	NULL		0.667	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	protein_coding	OTTHUMT00000081634.1	53	39	0	0.00	0	0	C	NM_017514	0	0		153696250	1	no_errors	ENST00000369682	ensembl	human	known	74_37	nonsense	26	45	21.21	40.79	7	31	SNP	1	A	A	153696250	C	A	153696250	4	1	47	1	0	0	0	0	0	1	0	0	12121	489	17	5	3804	5	PLXNA3	23	153696250	Nonsense_Mutation	SNP	C	TCGA-X7-A8M3-01A-11D-A423-09	52114849	153696250	1574310	31	534											
CCDC3	83643	genome.wustl.edu	37	chr10	13043209	13043209	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcacctgaggaagaagAaataggagtagtcctggacc	13	6	14	8	0	1	3	1	1	0	2	2	6	2	6	3	4	0	2	3	4	5	2			TCGA-X7-A8M4-01A-11D-A423-09	TCGA-X7-A8M4-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fc4ed0e3-d7bb-45ca-aa7a-d24dee360a30	048d7ec6-ca33-4b19-b0e8-69f18ad9a3fa	g.chr10:13043209A>T	ENST00000378825.3	-	1	488	c.362T>A	c.(361-363)tTc>tAc	p.F121Y	CCDC3_ENST00000378839.1_Intron	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	121						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GAGGAAGAAGAAATAGGAGTA	0.667																																							0											0													9	11	10					10																	13043209		2157	4236	6393	SO:0001583	missense	0			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.362T>A	10.37:g.13043209A>T	ENSP00000368102:p.Phe121Tyr		Q5VYV8|Q5VYV9	Missense_Mutation	SNP	NULL	p.F121Y	ENST00000378825.3	37	c.362	CCDS7093.1	10	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950074	0.34377	.	.	ENSG00000151468	ENST00000378825	.	.	.	4.55	3.39	0.38822	.	0.169093	0.53938	D	0.000050	T	0.27524	0.0676	N	0.22421	0.69	0.32231	N	0.574022	B	0.15141	0.012	B	0.16722	0.016	T	0.21280	-1.0250	9	0.18276	T	0.48	-17.6471	4.8759	0.13656	0.7464:0.0:0.0911:0.1625	.	121	Q9BQI4	CCDC3_HUMAN	Y	121	.	ENSP00000368102:F121Y	F	-	2	0	CCDC3	13083215	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.521000	0.60532	0.575000	0.29434	0.459000	0.35465	TTC	0	NULL		0.667	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC3	protein_coding	OTTHUMT00000046829.1	121	105	0	0.00	0	0	A	NM_031455	0	0		13043209	-1	no_errors	ENST00000378825	ensembl	human	known	74_37	missense	76	111	9.52	5.93	8	7	SNP	1	T	T	13043209	A	T	13043209	3	4	48	1	0	0	0	0	1	0	0	0	2804	246	9	5	462	5	CCDC3	10	13043209	Missense_Mutation	SNP	A	TCGA-X7-A8M4-01A-11D-A423-09		13043209	122491538	1	535											
SPSB3	90864	genome.wustl.edu	37	chr16	1827257	1827257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcacctgcttgaggccCggcggcagcggcagaccctc	6	6	14	15	3	0	2	0	1	0	1	1	2	0	2	3	4	3	5	3	4	1	2			TCGA-X7-A8M4-01A-11D-A423-09	TCGA-X7-A8M4-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fc4ed0e3-d7bb-45ca-aa7a-d24dee360a30	048d7ec6-ca33-4b19-b0e8-69f18ad9a3fa	g.chr16:1827257C>T	ENST00000566339.1	-	7	1239	c.909G>A	c.(907-909)ccG>ccA	p.P303P	SPSB3_ENST00000301717.4_Silent_p.P303P	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	303	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GCTTGAGGCCCGGCGGCAGCG	0.687																																							0											0													43	40	41					16																	1827257		2191	4275	6466	SO:0001819	synonymous_variant	0				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.909G>A	16.37:g.1827257C>T			D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	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.P303	ENST00000566339.1	37	c.909	CCDS32365.1	16																																																																																			0	smart_SOCS_C,pfscan_SOCS_C		0.687	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB3	protein_coding	OTTHUMT00000433512.1	25	57	0	0.00	0	0	C	NM_080861	0	0		1827257	-1	no_errors	ENST00000301717	ensembl	human	known	74_37	silent	23	46	11.54	8.00	3	4	SNP	0.083	T	T	1827257	C	T	1827257	2	4	48	1	0	0	0	0	0	0	0	1	15113	639	23	2		2	SPSB3	16	1827257	Silent	SNP	C	TCGA-X7-A8M4-01A-11D-A423-09		1827257	88527496	2	536											
H6PD	9563	genome.wustl.edu	37	chr1	9324428	9324428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgagcgctgcgtcccaCtctcagacccggagtccaac	8	7	10	16	4	1	2	1	1	1	1	4	4	3	3	3	1	3	1	3	1	1	1			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr1:9324428C>T	ENST00000377403.2	+	5	2178	c.1876C>T	c.(1876-1878)Ctc>Ttc	p.L626F	H6PD_ENST00000602477.1_Missense_Mutation_p.L637F	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	626	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)		CTGCGTCCCACTCTCAGACCC	0.667																																							0											0													22	24	24					1																	9324428		2201	4296	6497	SO:0001583	missense	0			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.1876C>T	1.37:g.9324428C>T	ENSP00000366620:p.Leu626Phe		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.L626F	ENST00000377403.2	37	c.1876	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	C	9.124	1.009778	0.19277	.	.	ENSG00000049239	ENST00000377403	T	0.44083	0.93	5.16	5.16	0.70880	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.259719	0.39274	N	0.001410	T	0.36413	0.0966	L	0.41124	1.26	0.27420	N	0.954326	B	0.22541	0.071	B	0.29663	0.105	T	0.32079	-0.9920	10	0.51188	T	0.08	-29.7041	11.1621	0.48522	0.0:0.9165:0.0:0.0835	.	626	O95479	G6PE_HUMAN	F	626	ENSP00000366620:L626F	ENSP00000366620:L626F	L	+	1	0	H6PD	9247015	0.930000	0.31532	0.088000	0.20740	0.340000	0.28889	3.577000	0.53885	2.420000	0.82092	0.561000	0.74099	CTC	0	tigrfam_6-phosphogluconolactonase_DevB		0.667	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	protein_coding	OTTHUMT00000004928.2	21	77	0	0.00	0	0	C	NM_004285	0	0		9324428	1	no_errors	ENST00000377403	ensembl	human	known	74_37	missense	16	50	30.43	19.35	7	12	SNP	0.389	T	T	9324428	C	T	9324428	3	4	49	1	0	0	0	0	1	0	0	0	6936	565	20	3	1890	3	H6PD	1	9324428	Missense_Mutation	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09		9324428	239926193	1	537											
CSMD2	114784	genome.wustl.edu	37	chr1	34164385	34164385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggccggtcccaggtcCggcgctctccactcagacac	7	5	12	17	3	2	2	1	0	1	2	5	2	4	2	4	4	0	2	4	4	0	0			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr1:34164385C>T	ENST00000373380.1	-	3	732	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1298Q			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1258	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)				GTCCCAGGTCCGGCGCTCTCC	0.602																																							0											0													69	69	69					1																	34164385		2203	4300	6503	SO:0001583	missense	0			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.512G>A	1.37:g.34164385C>T	ENSP00000362478:p.Arg171Gln		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.R1298Q	ENST00000373380.1	37	c.3893		1	.	.	.	.	.	.	.	.	.	.	C	37	6.247612	0.97412	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.64438	-0.1;-0.1	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	M	0.63208	1.945	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.997;0.986;0.975	T	0.72357	-0.4318	10	0.31617	T	0.26	.	19.3155	0.94211	0.0:1.0:0.0:0.0	.	171;1258;1298	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	Q	1298;171	ENSP00000362479:R1298Q;ENSP00000362478:R171Q	ENSP00000241312:R1258Q	R	-	2	0	CSMD2	33936972	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.776000	0.85560	2.879000	0.98667	0.650000	0.86243	CGG	0	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.602	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000030635.4	37	76	0	0.00	0	0	C	NM_052896	0	0		34164385	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	35	75	32.69	23.47	17	23	SNP	1	T	T	34164385	C	T	34164385	3	4	49	1	0	0	0	0	1	0	0	0	3945	652	23	2	6874	2	CSMD2	1	34164385	Missense_Mutation	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09	24839957	34164385	215086236	2	538											
TTN	7273	genome.wustl.edu	37	chr2	179417841	179417841	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctggtgtgtcaagcactTtaacactcacagttgaagac	12	10	9	10	0	2	2	2	1	0	1	2	2	2	2	0	1	3	3	0	1	3	3			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr2:179417841T>G	ENST00000591111.1	-	285	85087	c.84863A>C	c.(84862-84864)aAa>aCa	p.K28288T	TTN_ENST00000359218.5_Missense_Mutation_p.K20989T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K20864T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K21056T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K27361T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K29929T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28288					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)			GTCAAGCACTTTAACACTCAC	0.428																																							0											0													99	96	97					2																	179417841		1909	4126	6035	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84863A>C	2.37:g.179417841T>G	ENSP00000465570:p.Lys28288Thr		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.K27361T	ENST00000591111.1	37	c.82082		2	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092789	0.56075	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.39	5.39	0.77823	Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75191	0.3816	L	0.37507	1.11	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.87578	0.998;0.994;0.994;0.998	T	0.78160	-0.2312	9	0.87932	D	0	.	15.708	0.77602	0.0:0.0:0.0:1.0	.	20864;20989;21056;28288	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	27361;20864;21056;20989;20861	ENSP00000343764:K27361T;ENSP00000434586:K20864T;ENSP00000340554:K21056T;ENSP00000352154:K20989T	ENSP00000340554:K21056T	K	-	2	0	TTN	179126087	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	5.154000	0.64894	2.163000	0.67991	0.533000	0.62120	AAA	0	pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	50	249	0	0.00	0	0	T	NM_133378	0	0		179417841	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	47	203	20.34	27.56	12	78	SNP	1	G	G	179417841	T	G	179417841	3	3	49	1	0	0	0	0	1	0	0	0	16732	1841	64	5	18305	5	TTN	2	179417841	Missense_Mutation	SNP	T	TCGA-X7-A8M5-01A-11D-A423-09		179417841	63781532	3	539											
TTN	7273	genome.wustl.edu	37	chr2	179605611	179605611	+	Missense_Mutation	SNP	T	T	C																															gagcttgtcttgctccaaaaTggattgcaattcctgagctc																										TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr2:179605611T>C	ENST00000591111.1	-	46	11622	c.11398A>G	c.(11398-11400)Att>Gtt	p.I3800V	TTN_ENST00000359218.5_Missense_Mutation_p.I3879V|TTN_ENST00000460472.2_Missense_Mutation_p.I3754V|TTN_ENST00000342175.6_Missense_Mutation_p.I3946V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I4117V|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33478					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)			TGCTCCAAAATGGATTGCAAT	0.423																																							0											0													128	124	125					2																	179605611		1905	4116	6021	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11398A>G	2.37:g.179605611T>C	ENSP00000465570:p.Ile3800Val		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.I3946V	ENST00000591111.1	37	c.11836		2	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216854	0.39201	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59772	0.26;0.24;0.24	5.52	3.11	0.35812	.	.	.	.	.	T	0.29976	0.0750	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.22208	-1.0223	9	0.87932	D	0	.	6.0613	0.19839	0.0:0.0866:0.164:0.7494	.	3754;3879;3946	D3DPF9;E7EQE6;E7ET18	.;.;.	V	3754;3946;3879;3754	ENSP00000434586:I3754V;ENSP00000340554:I3946V;ENSP00000352154:I3879V	ENSP00000340554:I3946V	I	-	1	0	TTN	179313856	0.032000	0.19561	0.123000	0.21794	0.639000	0.38242	-0.095000	0.11077	0.369000	0.24510	0.533000	0.62120	ATT	0	superfamily_RNaseH-like_dom		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	28	173	0	0.57	0	1	T	NM_133378	0	0		179605611	-1	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	22	151	24.14	12.21	7	21	SNP	0.067	C	C	179605611	T	C	179605611	3	2	49	1	0	0	0	0	1	0	0	0	16732	1464	51	3	92440	3	TTN	2	179605611	Missense_Mutation	SNP	T	TCGA-X7-A8M5-01A-11D-A423-09	187770	179605611	63593762	4	540	2	2									
TTN	7273	genome.wustl.edu	37	chr2	179605613	179605613	+	Missense_Mutation	SNP	G	G	A																															gcttgtcttgctccaaaatgGattgcaattcctgagctccc																										TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr2:179605613G>A	ENST00000591111.1	-	46	11620	c.11396C>T	c.(11395-11397)tCc>tTc	p.S3799F	TTN_ENST00000359218.5_Missense_Mutation_p.S3878F|TTN_ENST00000460472.2_Missense_Mutation_p.S3753F|TTN_ENST00000342175.6_Missense_Mutation_p.S3945F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S4116F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33477			S -> Y (in CMD1G). {ECO:0000269|PubMed:11846417}.		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)			CTCCAAAATGGATTGCAATTC	0.428																																							0											0			GRCh37	CM022259	ttntvn2b	M							127	124	125					2																	179605613		1907	4115	6022	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11396C>T	2.37:g.179605613G>A	ENSP00000465570:p.Ser3799Phe		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.S3945F	ENST00000591111.1	37	c.11834		2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588977	0.46110	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.62788	0.12;0.01;0.0	5.52	5.52	0.82312	.	.	.	.	.	T	0.50480	0.1618	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29805	0.087;0.087;0.257	B;B;B	0.26310	0.068;0.068;0.068	T	0.52578	-0.8557	9	0.87932	D	0	.	16.3752	0.83383	0.0:0.0:1.0:0.0	.	3753;3878;3945	D3DPF9;E7EQE6;E7ET18	.;.;.	F	3753;3945;3878;3753	ENSP00000434586:S3753F;ENSP00000340554:S3945F;ENSP00000352154:S3878F	ENSP00000340554:S3945F	S	-	2	0	TTN	179313858	0.815000	0.29118	0.321000	0.25320	0.654000	0.38779	1.567000	0.36407	2.581000	0.87130	0.655000	0.94253	TCC	0	superfamily_RNaseH-like_dom		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	29	173	0	0.00	0	0	G	NM_133378	0	0		179605613	-1	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	21	148	25	12.87	7	22	SNP	0.318	A	A	179605613	G	A	179605613	3	1	49	1	0	0	0	0	1	0	0	0	16732	1174	41	3	92442	3	TTN	2	179605613	Missense_Mutation	SNP	G	TCGA-X7-A8M5-01A-11D-A423-09	2	179605613	63593760	5	541	2	2									
KIF9	64147	genome.wustl.edu	37	chr3	47286394	47286394	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcacccactaggtggccAtcaacatccacaagccccgc	10	5	8	18	1	2	0	2	0	0	0	3	0	3	0	5	3	2	1	5	3	3	1			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr3:47286394A>G	ENST00000265529.3	-	16	2081	c.1401T>C	c.(1399-1401)gaT>gaC	p.D467D	KIF9_ENST00000352910.4_Silent_p.D374D|KIF9_ENST00000444589.2_Silent_p.D467D|KIF9_ENST00000452770.2_Silent_p.D467D|KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000335044.2_Silent_p.D467D			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	467					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)		CTAGGTGGCCATCAACATCCA	0.527																																					Colon(44;962 1147 15977 24541)		0											0													73	68	70					3																	47286394		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1401T>C	3.37:g.47286394A>G			Q86Z28|Q9H8A4	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D467	ENST00000265529.3	37	c.1401	CCDS2752.1	3																																																																																			0	NULL		0.527	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	protein_coding	OTTHUMT00000257475.2	66	156	0	0.00	0	0	A		0	0		47286394	-1	no_errors	ENST00000265529	ensembl	human	known	74_37	silent	38	123	26.92	29.31	14	51	SNP	0.057	G	G	47286394	A	G	47286394	2	3	49	1	0	0	0	0	0	0	0	1	8310	214	8	3		3	KIF9	3	47286394	Silent	SNP	A	TCGA-X7-A8M5-01A-11D-A423-09		47286394	150736036	6	542											
SH3TC1	54436	genome.wustl.edu	37	chr4	8229317	8229317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagccatggccctgctcctGgggacgcctgaccacatctg	8	7	11	15	1	1	1	0	1	1	0	2	2	2	2	5	3	2	1	5	3	1	0			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr4:8229317G>A	ENST00000245105.3	+	12	1963	c.1896G>A	c.(1894-1896)ctG>ctA	p.L632L	SH3TC1_ENST00000539824.1_Silent_p.L556L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	632										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCTGCTCCTGGGGACGCCTG	0.677																																					NSCLC(145;2298 2623 35616 37297)		0											0													31	31	31					4																	8229317		2017	3996	6013	SO:0001819	synonymous_variant	0			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.1896G>A	4.37:g.8229317G>A			Q4W5G5	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.L632	ENST00000245105.3	37	c.1896	CCDS3399.1	4																																																																																			0	smart_TPR_repeat		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	protein_coding	OTTHUMT00000206991.2	56	52	0	0.00	0	0	G	NM_018986	0	0		8229317	1	no_errors	ENST00000245105	ensembl	human	known	74_37	silent	48	59	21.31	27.16	13	22	SNP	1	A	A	8229317	G	A	8229317	2	1	49	1	0	0	0	0	0	0	0	1	14261	1335	47	3		3	SH3TC1	4	8229317	Silent	SNP	G	TCGA-X7-A8M5-01A-11D-A423-09		8229317	182924959	7	543											
FGG	2266	genome.wustl.edu	37	chr4	155531219	155531219	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atataaccttcatcagttacCtttcccagtgatatcatgga	12	14	5	10	0	3	1	3	1	0	0	4	2	4	2	3	1	2	1	3	1	4	6			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr4:155531219C>G	ENST00000336098.3	-	5	570	c.532G>C	c.(532-534)Gat>Cat	p.D178H	FGG_ENST00000405164.1_Splice_Site_p.V178L|FGG_ENST00000404648.3_Splice_Site_p.D178H|FGG_ENST00000407946.1_Splice_Site_p.V178L	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	178	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)	CATCAGTTACCTTTCCCAGTG	0.393																																							0											0													184	166	172					4																	155531219		2203	4300	6503	SO:0001630	splice_region_variant	0				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.532+1G>C	4.37:g.155531219C>G			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.D178H	ENST00000336098.3	37	c.532	CCDS3788.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.06|12.06	1.825462|1.825462	0.32237|0.32237	.|.	.|.	ENSG00000171557|ENSG00000171557	ENST00000404648;ENST00000336098;ENST00000443553;ENST00000393846|ENST00000405164;ENST00000407946	D;D;T;T|T;T	0.98192|0.56444	-4.78;-4.78;1.6;1.6|0.47;0.46	5.48|5.48	5.48|5.48	0.80851|0.80851	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|T	0.64114|0.64114	0.2569|0.2569	M|M	0.90977|0.90977	3.165|3.165	0.37507|0.37507	D|D	0.916998|0.916998	D;D|B;B	0.89917|0.22800	1.0;1.0|0.075;0.043	D;D|B;B	0.97110|0.21917	1.0;1.0|0.037;0.037	T|T	0.66787|0.66787	-0.5835|-0.5835	10|9	0.54805|0.23302	T|T	0.06|0.38	.|.	19.7024|19.7024	0.96060|0.96060	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	178;178|178;178	P02679;P02679-2|C9JC84;C9JEU5	FIBG_HUMAN;.|.;.	H|L	178;178;75;75|178	ENSP00000384860:D178H;ENSP00000336829:D178H;ENSP00000407562:D75H;ENSP00000377429:D75H|ENSP00000384101:V178L;ENSP00000384552:V178L	ENSP00000336829:D178H|ENSP00000384101:V178L	D|V	-|-	1|1	0|0	FGG|FGG	155750669|155750669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.572000|0.572000	0.35998|0.35998	7.124000|7.124000	0.77185|0.77185	2.724000|2.724000	0.93272|0.93272	0.655000|0.655000	0.94253|0.94253	GAT|GTA	0	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.393	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	protein_coding	OTTHUMT00000317581.1	87	280	0	0.36	0	1	C	NM_021870	0	0	Missense_Mutation	155531219	-1	no_errors	ENST00000336098	ensembl	human	known	74_37	missense	89	220	23.28	23.08	27	66	SNP	1	G	G	155531219	C	G	155531219	5	3	49	1	0	0	0	0	0	0	1	0	5870	695	24	5	868	5	FGG	4	155531219	Splice_Site	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09	147301902	155531219	35623057	8	544											
DHX16	8449	genome.wustl.edu	37	chr6	30633356	30633356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagatcccgcactcgcCgcttatatttgagctcctgc	6	10	11	14	4	0	2	0	1	0	1	3	3	2	2	3	1	2	3	3	1	2	3			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr6:30633356C>T	ENST00000376442.3	-	5	1016	c.821G>A	c.(820-822)cGg>cAg	p.R274Q		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	274					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)	p.R274Q(1)		kidney(2)|ovary(2)	4						CCGCACTCGCCGCTTATATTT	0.627																																							0											1	Substitution - Missense(1)	endometrium(1)											65	66	66					6																	30633356		1511	2709	4220	SO:0001583	missense	0			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.821G>A	6.37:g.30633356C>T	ENSP00000365625:p.Arg274Gln		O60322|Q5JP45|Q969X7|Q96QC1	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.R274Q	ENST00000376442.3	37	c.821	CCDS4685.1	6	.	.	.	.	.	.	.	.	.	.	c	15.81	2.944569	0.53079	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.54675	0.56;0.56	5.12	2.88	0.33553	.	0.349077	0.29830	N	0.011095	T	0.20292	0.0488	L	0.31476	0.935	0.42214	D	0.991828	B;B	0.28880	0.222;0.226	B;B	0.19391	0.019;0.025	T	0.07366	-1.0776	10	0.40728	T	0.16	.	9.5581	0.39351	0.0:0.7592:0.0:0.2408	.	214;274	B4DZ28;O60231	.;DHX16_HUMAN	Q	274;214	ENSP00000365625:R274Q;ENSP00000399101:R214Q	ENSP00000365625:R274Q	R	-	2	0	DHX16	30741335	0.897000	0.30589	0.998000	0.56505	0.922000	0.55478	2.491000	0.45303	1.123000	0.41961	0.586000	0.80456	CGG	0	NULL		0.627	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	protein_coding	OTTHUMT00000076076.2	46	102	0	0.00	0	0	C	NM_003587	0	0		30633356	-1	no_errors	ENST00000376442	ensembl	human	known	74_37	missense	44	63	24.14	24.71	14	21	SNP	0.691	T	T	30633356	C	T	30633356	3	4	49	1	0	0	0	0	1	0	0	0	4502	652	23	2	2368	2	DHX16	6	30633356	Missense_Mutation	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09		30633356	140481711	9	545											
PRDM1	639	genome.wustl.edu	37	chr6	106552868	106552868	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcacccctcacatcagaaaAggacctcgatgactttagaa	14	9	6	12	1	3	3	3	1	0	2	4	5	3	4	3	1	0	0	3	1	4	3			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr6:106552868A>G	ENST00000369096.4	+	5	1067	c.833A>G	c.(832-834)aAg>aGg	p.K278R	PRDM1_ENST00000369089.3_Missense_Mutation_p.K144R|PRDM1_ENST00000369091.2_Missense_Mutation_p.K242R	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	278					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)		ACATCAGAAAAGGACCTCGAT	0.498			"D, N, Mis, F, S"		DLBCL																																		0		Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	0													195	213	207					6																	106552868		2203	4300	6503	SO:0001583	missense	0				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.833A>G	6.37:g.106552868A>G	ENSP00000358092:p.Lys278Arg		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.K278R	ENST00000369096.4	37	c.833	CCDS5054.2	6	.	.	.	.	.	.	.	.	.	.	A	8.129	0.782573	0.16189	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;T;T	0.58060	3.24;3.23;0.36;3.24	5.73	3.38	0.38709	.	0.260679	0.43579	N	0.000550	T	0.17109	0.0411	N	0.22421	0.69	0.38628	D	0.951319	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.05886	-1.0858	10	0.17832	T	0.49	-24.1333	9.7115	0.40247	0.8606:0.0:0.1394:0.0	.	144;278	Q86WM7;O75626	.;PRDM1_HUMAN	R	242;278;242;157;144	ENSP00000358087:K242R;ENSP00000358092:K278R;ENSP00000399772:K157R;ENSP00000358085:K144R	ENSP00000358085:K144R	K	+	2	0	PRDM1	106659561	1.000000	0.71417	0.995000	0.50966	0.394000	0.30568	3.553000	0.53713	1.005000	0.39183	0.533000	0.62120	AAG	0	pirsf_Znf_PRDM1		0.498	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	protein_coding	OTTHUMT00000041661.3	54	277	0	0.00	0	0	A		0	0		106552868	1	no_errors	ENST00000369096	ensembl	human	known	74_37	missense	58	235	27.5	22.70	22	69	SNP	0.999	G	G	106552868	A	G	106552868	3	3	49	1	0	0	0	0	1	0	0	0	12450	72	3	4	864	4	PRDM1	6	106552868	Missense_Mutation	SNP	A	TCGA-X7-A8M5-01A-11D-A423-09	75919512	106552868	64562199	10	546											
NFE2L3	9603	genome.wustl.edu	37	chr7	26192571	26192571	+	Frame_Shift_Del	DEL	G	G	-																															ggcggcagccaggctgtgcaGgggggcggcggggacccccg																										TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr7:26192571delG	ENST00000056233.3	+	1	712	c.453delG	c.(451-453)cagfs	p.Q151fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	151					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						AGGCTGTGCAGGGGGGCGGCG	0.791																																							0											0													1	1	1					7																	26192571		509	1269	1778	SO:0001589	frameshift_variant	0			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.453delG	7.37:g.26192571delG	ENSP00000056233:p.Gln151fs		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Del	DEL	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.G153fs	ENST00000056233.3	37	c.453	CCDS5396.1	7																																																																																			0	NULL		0.791	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	protein_coding	OTTHUMT00000214088.1	11	6	0	0.00	0	0	G		0	0		26192571	1	no_errors	ENST00000056233	ensembl	human	known	74_37	frame_shift_del	14	3	12.5	0.00	2	0	DEL	0	0	-	26192571	G	-	26192571	7	5	49	1	0	1	0	1	0	0	0	0	10369	991	35	0	455	0	NFE2L3	7	26192571	Frame_Shift_Del	DEL	G	TCGA-X7-A8M5-01A-11D-A423-09		26192571	132946092	11	547											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	304	134	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	231	72	28.92	31.78	94	34	SNP	1	A	A	74146970	T	A	74146970	3	1	49	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-X7-A8M5-01A-11D-A423-09	47954399	74146970	84991693	12	548											
TNPO3	23534	genome.wustl.edu	37	chr7	128610261	128610261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacatctggtagggtataggGggggaggcaaaagcagcagg	12	5	18	6	0	1	0	0	0	1	0	1	1	1	1	0	7	2	5	0	7	5	3			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr7:128610261G>C	ENST00000265388.5	-	20	2682	c.2539C>G	c.(2539-2541)Ccc>Gcc	p.P847A	TNPO3_ENST00000471234.1_Missense_Mutation_p.P783A|RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000393245.1_Missense_Mutation_p.P881A|TNPO3_ENST00000482320.1_Missense_Mutation_p.P781A|TNPO3_ENST00000471166.1_Missense_Mutation_p.P881A			Q9Y5L0	TNPO3_HUMAN	transportin 3	847					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						AGGGTATAGGGGGGGAGGCAA	0.488																																					Pancreas(147;583 2585 39696 52331)		0											0													159	159	159					7																	128610261		2203	4300	6503	SO:0001583	missense	0			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.2539C>G	7.37:g.128610261G>C	ENSP00000265388:p.Pro847Ala		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.P881A	ENST00000265388.5	37	c.2641	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	G	9.572	1.121199	0.20877	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.79	5.79	0.91817	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.30973	0.302;0.068;0.04;0.011	B;B;B;B	0.24006	0.05;0.018;0.041;0.018	T	0.42172	-0.9467	10	0.09590	T	0.72	.	17.5092	0.87755	0.0:0.0:1.0:0.0	.	783;881;847;847	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	A	881;847;781;783;881	ENSP00000376936:P881A;ENSP00000265388:P847A;ENSP00000420089:P781A;ENSP00000418646:P783A;ENSP00000418267:P881A	ENSP00000265388:P847A	P	-	1	0	TNPO3	128397497	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	6.527000	0.73803	2.737000	0.93849	0.650000	0.86243	CCC	0	NULL		0.488	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	protein_coding	OTTHUMT00000350929.1	58	120	0	0.00	0	0	G	NM_012470	0	0		128610261	-1	no_errors	ENST00000393245	ensembl	human	known	74_37	missense	34	88	19.05	27.87	8	34	SNP	1	C	C	128610261	G	C	128610261	3	2	49	1	0	0	0	0	1	0	0	0	16334	1232	43	5	244	5	TNPO3	7	128610261	Missense_Mutation	SNP	G	TCGA-X7-A8M5-01A-11D-A423-09	54463291	128610261	30528402	13	549											
GOT1L1	137362	genome.wustl.edu	37	chr8	37795248	37795248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaggcaccactgtcaccaAcagtgtgtacaccccctacc	11	6	8	16	0	1	0	1	0	0	0	1	1	1	1	5	2	3	2	5	2	4	2			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr8:37795248A>G	ENST00000307599.4	-	3	416	c.317T>C	c.(316-318)gTt>gCt	p.V106A	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	106					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)			ACTGTCACCAACAGTGTGTAC	0.507																																							0											0													61	62	62					8																	37795248		2021	4171	6192	SO:0001583	missense	0			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.317T>C	8.37:g.37795248A>G	ENSP00000303077:p.Val106Ala		A8MWL4	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans	p.V106A	ENST00000307599.4	37	c.317	CCDS47839.1	8	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990801	0.54041	.	.	ENSG00000169154	ENST00000307599;ENST00000524298	D;T	0.90324	-2.65;2.0	4.56	4.56	0.56223	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.508271	0.18605	N	0.136338	D	0.88500	0.6453	M	0.69823	2.125	0.80722	D	1	P	0.43231	0.801	B	0.37780	0.258	D	0.89238	0.3582	10	0.87932	D	0	-8.6513	10.2795	0.43530	1.0:0.0:0.0:0.0	.	106	Q8NHS2	AATC2_HUMAN	A	106;138	ENSP00000303077:V106A;ENSP00000430453:V138A	ENSP00000303077:V106A	V	-	2	0	GOT1L1	37914405	0.751000	0.28327	0.449000	0.26957	0.983000	0.72400	5.841000	0.69409	1.935000	0.56089	0.449000	0.29647	GTT	0	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.507	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT1L1	protein_coding	OTTHUMT00000376823.1	28	90	0	0.00	0	0	A	NM_152413	0	0		37795248	-1	no_errors	ENST00000307599	ensembl	human	known	74_37	missense	22	72	37.14	29.41	13	30	SNP	0.461	G	G	37795248	A	G	37795248	3	3	49	1	0	0	0	0	1	0	0	0	6580	43	2	3	821	3	GOT1L1	8	37795248	Missense_Mutation	SNP	A	TCGA-X7-A8M5-01A-11D-A423-09		37795248	108568774	14	550											
SNTG1	54212	genome.wustl.edu	37	chr8	51314864	51314864	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttgatgatccaggaacAggatgtgatatgtgtgtctg	10	14	12	5	0	1	3	0	3	1	0	2	5	2	5	1	2	1	0	1	2	2	3			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr8:51314864A>T	ENST00000522124.1	+	4	783	c.122A>T	c.(121-123)cAg>cTg	p.Q41L	SNTG1_ENST00000517473.1_Missense_Mutation_p.Q41L|SNTG1_ENST00000518864.1_Missense_Mutation_p.Q41L|SNTG1_ENST00000276467.5_Missense_Mutation_p.Q41L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	41					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)				ATCCAGGAACAGGATGTGATA	0.388																																							0											0													238	233	234					8																	51314864		2203	4300	6503	SO:0001583	missense	0			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.122A>T	8.37:g.51314864A>T	ENSP00000429842:p.Gln41Leu		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.Q41L	ENST00000522124.1	37	c.122	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	A	13.40	2.224786	0.39300	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000523085;ENST00000276467	T;T;T;T	0.31247	1.5;1.5;2.24;2.24	4.96	4.96	0.65561	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	L	0.61387	1.9	0.80722	D	1	P;P	0.45126	0.454;0.851	B;P	0.58391	0.211;0.838	T	0.37430	-0.9706	10	0.34782	T	0.22	.	13.8229	0.63333	1.0:0.0:0.0:0.0	.	41;41	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	L	41	ENSP00000429276:Q41L;ENSP00000429842:Q41L;ENSP00000431123:Q41L;ENSP00000276467:Q41L	ENSP00000276467:Q41L	Q	+	2	0	SNTG1	51477417	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.234000	0.89801	1.875000	0.54330	0.533000	0.62120	CAG	0	superfamily_PDZ		0.388	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	protein_coding	OTTHUMT00000377964.1	61	249	0	0.00	0	0	A		0	0		51314864	1	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	58	142	18.06	28.50	13	57	SNP	1	T	T	51314864	A	T	51314864	3	4	49	1	0	0	0	0	1	0	0	0	14874	188	7	5	128	5	SNTG1	8	51314864	Missense_Mutation	SNP	A	TCGA-X7-A8M5-01A-11D-A423-09	13519616	51314864	95049158	15	551											
EIF2C2	27161	genome.wustl.edu	37	chr8	141572626	141572626	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacgctgggcagccgcccTgaaagtgcatcgtgtaacgc	8	6	15	12	4	0	1	0	1	0	0	1	2	0	2	2	2	3	4	2	2	2	1	rs147392710		TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr8:141572626T>C	ENST00000220592.5	-	4	556	c.444A>G	c.(442-444)tcA>tcG	p.S148S	AGO2_ENST00000519980.1_Silent_p.S148S	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	148					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)										GCAGCCGCCCTGAAAGTGCAT	0.607																																							0											0													148	124	132					8																	141572626		2203	4300	6503	SO:0001819	synonymous_variant	0			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.444A>G	8.37:g.141572626T>C			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.S148	ENST00000220592.5	37	c.444	CCDS6380.1	8																																																																																			0	superfamily_PAZ_dom		0.607	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO2	protein_coding	OTTHUMT00000377866.4	32	65	0	0.00	0	0	T		0	0		141572626	-1	no_errors	ENST00000220592	ensembl	human	known	74_37	silent	23	57	34.29	28.75	12	23	SNP	0.925	C	C	141572626	T	C	141572626	2	2	49	1	0	0	0	0	0	0	0	1	5006	1567	55	4		4	EIF2C2	8	141572626	Silent	SNP	T	TCGA-X7-A8M5-01A-11D-A423-09	90257762	141572626	4791396	16	552											
IFNK	56832	genome.wustl.edu	37	chr9	27524943	27524943	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttacaaatttacagctctAttcaggaggaaataaggtat	15	14	7	5	0	2	0	1	0	1	0	2	2	2	2	0	3	3	2	0	3	7	8			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr9:27524943A>G	ENST00000276943.2	+	1	632	c.609A>G	c.(607-609)ctA>ctG	p.L203L	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	203					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|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 (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		TTACAGCTCTATTCAGGAGGA	0.353																																							0											0													27	30	29					9																	27524943		2202	4299	6501	SO:0001819	synonymous_variant	0			AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"Interferons"	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.609A>G	9.37:g.27524943A>G			Q5T166	Silent	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L203	ENST00000276943.2	37	c.609	CCDS6521.1	9																																																																																			0	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core		0.353	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNK	protein_coding	OTTHUMT00000051968.1	71	268	0	0.00	0	0	A	NM_020124	0	0		27524943	1	no_errors	ENST00000276943	ensembl	human	known	74_37	silent	42	195	31.15	25.00	19	65	SNP	0.012	G	G	27524943	A	G	27524943	2	3	49	1	0	0	0	0	0	0	0	1	7551	436	16	3		3	IFNK	9	27524943	Silent	SNP	A	TCGA-X7-A8M5-01A-11D-A423-09		27524943	113688488	17	553											
ABCC2	1244	genome.wustl.edu	37	chr10	101578955	101578955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctacagtgctctcctggCcaaaaaaggagagtttgcta	12	10	9	10	0	1	1	0	0	1	1	3	2	2	1	3	2	3	3	3	2	5	3			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr10:101578955C>T	ENST00000370449.4	+	19	2662	c.2549C>T	c.(2548-2550)gCc>gTc	p.A850V		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	850	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	GCTCTCCTGGCCAAAAAAGGA	0.428																																							0											0													98	101	100					10																	101578955		2203	4300	6503	SO:0001583	missense	0			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.2549C>T	10.37:g.101578955C>T	ENSP00000359478:p.Ala850Val		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.A850V	ENST00000370449.4	37	c.2549	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388053	0.25118	.	.	ENSG00000023839	ENST00000370449	T	0.78595	-1.19	5.45	4.52	0.55395	ABC transporter-like (1);	0.048372	0.85682	D	0.000000	T	0.64405	0.2595	L	0.41824	1.3	0.80722	D	1	P	0.41475	0.751	B	0.29524	0.103	T	0.66110	-0.6005	10	0.49607	T	0.09	-9.349	11.6198	0.51111	0.1399:0.7254:0.1347:0.0	.	850	Q92887	MRP2_HUMAN	V	850	ENSP00000359478:A850V	ENSP00000359478:A850V	A	+	2	0	ABCC2	101568945	0.991000	0.36638	0.978000	0.43139	0.014000	0.08584	1.284000	0.33249	1.220000	0.43490	0.561000	0.74099	GCC	0	pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.428	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	protein_coding	OTTHUMT00000049825.1	30	241	0	0.00	0	0	C	NM_000392	0	0		101578955	1	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	22	167	26.67	23.04	8	50	SNP	1	T	T	101578955	C	T	101578955	3	4	49	1	0	0	0	0	1	0	0	0	53	739	26	3	2623	3	ABCC2	10	101578955	Missense_Mutation	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09		101578955	33955792	18	554											
SCYL2	55681	genome.wustl.edu	37	chr12	100732436	100732436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcattggtatgatgttttCtacaccaactgataatacaa	13	13	8	7	0	1	2	0	2	1	0	1	2	1	2	1	2	3	3	1	2	6	7			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr12:100732436C>T	ENST00000360820.2	+	18	2713	c.2276C>T	c.(2275-2277)tCt>tTt	p.S759F		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	759	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						ATGATGTTTTCTACACCAACT	0.393																																							0											0													103	96	99					12																	100732436		2203	4300	6503	SO:0001583	missense	0			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.2276C>T	12.37:g.100732436C>T	ENSP00000354061:p.Ser759Phe		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.S759F	ENST00000360820.2	37	c.2276	CCDS9076.1	12	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386340	0.61956	.	.	ENSG00000136021	ENST00000360820	T	0.36157	1.27	5.67	5.67	0.87782	.	0.195628	0.47455	D	0.000236	T	0.35799	0.0944	L	0.27053	0.805	0.45594	D	0.998536	P	0.47350	0.894	P	0.45037	0.467	T	0.10613	-1.0622	10	0.56958	D	0.05	.	20.1204	0.97958	0.0:1.0:0.0:0.0	.	759	Q6P3W7	SCYL2_HUMAN	F	759	ENSP00000354061:S759F	ENSP00000354061:S759F	S	+	2	0	SCYL2	99256567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.136000	0.50554	2.832000	0.97577	0.585000	0.79938	TCT	0	NULL		0.393	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL2	protein_coding	OTTHUMT00000408493.2	70	166	0	0.00	0	0	C	NM_017988	0	0		100732436	1	no_errors	ENST00000360820	ensembl	human	known	74_37	missense	44	155	26.67	28.24	16	61	SNP	1	T	T	100732436	C	T	100732436	3	4	49	1	0	0	0	0	1	0	0	0	13948	913	32	3	2342	3	SCYL2	12	100732436	Missense_Mutation	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09		100732436	33119459	19	555											
RIPK3	11035	genome.wustl.edu	37	chr14	24807633	24807633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgggatccttacctgtaGacgtcactggctgtggaggc	6	9	15	11	2	1	1	1	0	0	1	2	3	2	3	3	5	1	2	3	5	2	2			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr14:24807633G>A	ENST00000216274.5	-	4	830	c.612C>T	c.(610-612)gtC>gtT	p.V204V	RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|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)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CTTACCTGTAGACGTCACTGG	0.577																																					Pancreas(58;918 1191 4668 13304 15331)		0											0													146	154	152					14																	24807633		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.612C>T	14.37:g.24807633G>A			B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	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.V204	ENST00000216274.5	37	c.612	CCDS9628.1	14																																																																																			0	pfam_Prot_kinase_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	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK3	protein_coding	OTTHUMT00000073203.4	63	231	0	0.00	0	0	G	NM_006871	0	0		24807633	-1	no_errors	ENST00000216274	ensembl	human	known	74_37	silent	41	153	30.51	30.45	18	67	SNP	0.994	A	A	24807633	G	A	24807633	2	1	49	1	0	0	0	0	0	0	0	1	13382	929	33	3		3	RIPK3	14	24807633	Silent	SNP	G	TCGA-X7-A8M5-01A-11D-A423-09		24807633	82541907	20	556											
PSEN1	5663	genome.wustl.edu	37	chr14	73640274	73640274	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtttgttttattgtagAatctataccccattcacaga	10	18	6	7	0	2	2	1	0	1	2	2	2	2	2	2	0	1	3	2	0	5	9			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr14:73640274A>C	ENST00000324501.5	+	5	611	c.339A>C	c.(337-339)ctA>ctC	p.L113L	PSEN1_ENST00000261970.3_Splice_Site_p.L113L|PSEN1_ENST00000344094.3_Splice_Site_p.L113L|PSEN1_ENST00000394157.3_Splice_Site_p.L113L|PSEN1_ENST00000394164.1_Splice_Site_p.L109L|PSEN1_ENST00000357710.4_Splice_Site_p.L109L|PSEN1_ENST00000557511.1_Splice_Site_p.L113L|PSEN1_ENST00000406768.1_Splice_Site_p.L21L	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	113			L -> P (in frontotemporal dementia). {ECO:0000269|PubMed:11094121}.		activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|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 MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|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 rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|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)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TTTATTGTAGAATCTATACCC	0.408																																							0											0													132	129	130					14																	73640274		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.339-1A>C	14.37:g.73640274A>C			B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Silent	SNP	pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.L113	ENST00000324501.5	37	c.339	CCDS9812.1	14																																																																																			0	pfam_Peptidase_A22A		0.408	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	protein_coding	OTTHUMT00000280500.2	73	245	0	0.00	0	0	A		0	0	Silent	73640274	1	no_errors	ENST00000324501	ensembl	human	known	74_37	silent	92	230	25.81	19.30	32	55	SNP	1	C	C	73640274	A	C	73640274	5	2	49	1	0	0	0	0	0	0	1	0	12650	260	9	5	349	5	PSEN1	14	73640274	Splice_Site	SNP	A	TCGA-X7-A8M5-01A-11D-A423-09	48832641	73640274	33709266	21	557											
SLC24A1	9187	genome.wustl.edu	37	chr15	65936780	65936782	+	In_Frame_Del	DEL	AGA	AGA	-																															tgcagttcgccttgccaaggAgaaggaggaggagagcttga																										TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	AGA	AGA	AGA	-	AGA	AGA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr15:65936780_65936782delAGA	ENST00000261892.6	+	5	2356_2358	c.2069_2071delAGA	c.(2068-2073)gagaag>gag	p.K691del	SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_In_Frame_Del_p.K673del|SLC24A1_ENST00000544319.2_Intron|SLC24A1_ENST00000537259.1_In_Frame_Del_p.K673del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.K691del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.K673del	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	691					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						CTTGCCAAGGAGAAGGAGGAGGA	0.532																																							0											0																																										SO:0001651	inframe_deletion	0			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.2069_2071delAGA	15.37:g.65936780_65936782delAGA	ENSP00000261892:p.Lys691del		O43485|O75184|Q17RM9	In_Frame_Del	DEL	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	p.K691in_frame_del	ENST00000261892.6	37	c.2069_2071	CCDS45284.1	15																																																																																			0	tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger		0.532	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	protein_coding	OTTHUMT00000397304.1	30	145	0	0.00	0	0	AGA	NM_004727	0	0		65936782	1	no_errors	ENST00000261892	ensembl	human	known	74_37	in_frame_del	25	133	16.67	18.90	5	31	DEL	0.997:0.994:0.997	0	-	65936782	AGA	-	65936780	7	5	49	1	0	1	0	1	0	0	0	0	14465	304	11	0	189	0	SLC24A1	15	65936780	In_Frame_Del	DEL	AGA	TCGA-X7-A8M5-01A-11D-A423-09		65936780	36594612	22	558											
CRYM	1428	genome.wustl.edu	37	chr16	21289563	21289563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcgctcaggaacgctggtaCccggctcatctcgccacctg	6	7	11	17	5	3	0	2	0	1	0	4	1	3	1	3	3	2	4	3	3	2	1			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr16:21289563C>T	ENST00000219599.3	-	3	275	c.10G>A	c.(10-12)Gta>Ata	p.V4I	CRYM_ENST00000396023.2_Missense_Mutation_p.V4I|CRYM_ENST00000543948.1_Missense_Mutation_p.V4I|CRYM_ENST00000574787.1_5'Flank|CRYM_ENST00000415987.2_5'UTR	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	4					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		AACGCTGGTACCCGGCTCATC	0.662											OREG0023670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													28	25	26					16																	21289563		2195	4296	6491	SO:0001583	missense	0				CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"thiomorpholine-carboxylate dehydrogenase"	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.10G>A	16.37:g.21289563C>T	ENSP00000219599:p.Val4Ile	747	D5MNX0|Q5HYB7	Missense_Mutation	SNP	pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd	p.V4I	ENST00000219599.3	37	c.10	CCDS10597.1	16	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023894	0.19433	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023	T;T;T	0.76448	-1.02;-1.02;-1.02	4.7	2.6	0.31112	.	0.696787	0.13995	N	0.348530	T	0.50463	0.1617	N	0.03608	-0.345	0.20307	N	0.999917	B	0.02656	0.0	B	0.01281	0.0	T	0.35051	-0.9804	10	0.36615	T	0.2	-22.4742	3.8133	0.08805	0.0:0.5676:0.205:0.2273	.	4	Q14894	CRYM_HUMAN	I	4	ENSP00000440227:V4I;ENSP00000219599:V4I;ENSP00000379341:V4I	ENSP00000219599:V4I	V	-	1	0	CRYM	21197064	0.000000	0.05858	0.373000	0.26003	0.408000	0.30992	0.061000	0.14366	1.183000	0.42943	0.563000	0.77884	GTA	0	NULL		0.662	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYM	protein_coding	OTTHUMT00000207398.1	108	67	0	0.00	0	0	C		0	0		21289563	-1	no_errors	ENST00000219599	ensembl	human	known	74_37	missense	95	36	25.78	32.08	33	17	SNP	0.053	T	T	21289563	C	T	21289563	3	4	49	1	0	0	0	0	1	0	0	0	3921	507	18	3	966	3	CRYM	16	21289563	Missense_Mutation	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09		21289563	69065190	23	559											
H3F3B	3021	genome.wustl.edu	37	chr17	73775230	73775230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcccaccggtggacttaCgagcagtctgcttggttcgg	5	12	12	12	3	1	0	0	0	1	0	3	2	2	1	2	4	3	3	2	4	1	4			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr17:73775230C>A	ENST00000254810.4	-	2	158	c.26G>T	c.(25-27)cGt>cTt	p.R9L	H3F3B_ENST00000587560.1_Missense_Mutation_p.R9L|H3F3B_ENST00000589599.1_Missense_Mutation_p.R9L|H3F3B_ENST00000592643.1_Missense_Mutation_p.R9L|H3F3B_ENST00000591890.1_Missense_Mutation_p.R9L|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000586607.1_Missense_Mutation_p.R9L	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	9				R -> L (in Ref. 7; AAH81561). {ECO:0000305}.	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)			GGTGGACTTACGAGCAGTCTG	0.647											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													27	28	27					17																	73775230		2203	4300	6503	SO:0001583	missense	0			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.26G>T	17.37:g.73775230C>A	ENSP00000254810:p.Arg9Leu	1147	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R9L	ENST00000254810.4	37	c.26	CCDS11729.1	17	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615455	0.46631	.	.	ENSG00000132475	ENST00000254810	T	0.44482	0.92	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000012	T	0.71375	0.3332	M	0.90252	3.1	0.58432	D	0.999996	.	.	.	.	.	.	T	0.77496	-0.2566	8	0.62326	D	0.03	.	18.6647	0.91485	0.0:1.0:0.0:0.0	.	.	.	.	L	9	ENSP00000254810:R9L	ENSP00000254810:R9L	R	-	2	0	H3F3B	71286825	1.000000	0.71417	0.211000	0.23655	0.984000	0.73092	7.262000	0.78410	2.639000	0.89480	0.655000	0.94253	CGT	0	superfamily_Histone-fold,prints_Histone_H3		0.647	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	protein_coding	OTTHUMT00000448499.1	118	56	0	0.00	0	0	C	NM_005324	0	0		73775230	-1	no_errors	ENST00000254810	ensembl	human	known	74_37	missense	75	32	24.75	23.81	25	10	SNP	1	A	A	73775230	C	A	73775230	3	1	49	1	0	0	0	0	1	0	0	0	6934	536	19	5	396	5	H3F3B	17	73775230	Missense_Mutation	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09		73775230	7419980	24	560											
TCEB3B	51224	genome.wustl.edu	37	chr18	44561386	44561386	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtcctgtgggccaggccGggtgtttcggtccacgagca	5	8	17	11	3	0	0	0	0	0	0	3	1	2	0	4	5	1	2	4	5	0	1	rs199546236		TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr18:44561386G>C	ENST00000332567.4	-	1	602	c.250C>G	c.(250-252)Cgg>Ggg	p.R84G	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)	84					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						GGGCCAGGCCGGGTGTTTCGG	0.642																																							0											0													33	35	34					18																	44561386		2203	4299	6502	SO:0001583	missense	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.250C>G	18.37:g.44561386G>C	ENSP00000331302:p.Arg84Gly		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.R84G	ENST00000332567.4	37	c.250	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	C	3.920	-0.018359	0.07681	.	.	ENSG00000206181	ENST00000332567	T	0.06849	3.25	2.84	1.04	0.20106	Transcription factor IIS, N-terminal (2);	1.286690	0.05975	N	0.643084	T	0.03915	0.0110	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43782	-0.9370	10	0.31617	T	0.26	-9.8483	5.2986	0.15766	0.0:0.4749:0.4036:0.1216	.	84	Q8IYF1	ELOA2_HUMAN	G	84	ENSP00000331302:R84G	ENSP00000331302:R84G	R	-	1	2	TCEB3B	42815384	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.297000	0.08276	0.006000	0.14734	-2.819000	0.00109	CGG	0	superfamily_TFIIS_N		0.642	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	protein_coding	OTTHUMT00000255900.1	10	9	9.09	0.00	1	0	G	NM_016427	rs199546236	G->C		44561386	-1	no_errors	ENST00000332567	ensembl	human	known	74_37	missense	19	8	9.52	0.00	2	0	SNP	0	C	C	44561386	G	C	44561386	3	2	49	1	0	0	0	0	1	0	0	0	15679	1115	39	5	2015	5	TCEB3B	18	44561386	Missense_Mutation	SNP	G	TCGA-X7-A8M5-01A-11D-A423-09		44561386	33515862	25	561											
OR7D4	125958	genome.wustl.edu	37	chr19	9325421	9325421	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgaccaggtacatggacagGaacagcccaaagaggacggg	14	3	15	9	1	0	2	0	1	0	1	0	5	0	5	2	5	3	1	2	5	3	1	rs142183744		TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr19:9325421G>A	ENST00000308682.2	-	1	121	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	31						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						ACATGGACAGGAACAGCCCAA	0.522																																							0											0								G		2,4404	2.1+/-5.4	0,2,2201	72	70	71		93	-2.3	0.3	19	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	OR7D4	NM_001005191.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		31/313	9325421	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.93C>T	19.37:g.9325421G>A			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.F31	ENST00000308682.2	37	c.93	CCDS32901.1	19																																																																																			0	prints_GPCR_Rhodpsn		0.522	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	protein_coding	OTTHUMT00000449004.1	42	72	0	0.00	0	0	G		rs142183744	G->A		9325421	-1	no_errors	ENST00000308682	ensembl	human	known	74_37	silent	31	51	24.39	26.09	10	18	SNP	0.422	A	A	9325421	G	A	9325421	2	1	49	1	0	0	0	0	0	0	0	1	11220	1165	41	3		3	OR7D4	19	9325421	Silent	SNP	G	TCGA-X7-A8M5-01A-11D-A423-09		9325421	49803562	26	562											
CEBPA	1050	genome.wustl.edu	37	chr19	33793008	33793010	+	In_Frame_Del	DEL	CGC	CGC	-																															cgcgcccgggtagtcaaagtCgccgccgccgccgccgcccg																										TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr19:33793008_33793010delCGC	ENST00000498907.2	-	1	460_462	c.311_313delGCG	c.(310-315)ggcgac>gac	p.G104del	CTD-2540B15.11_ENST00000589932.1_RNA|CTD-2540B15.9_ENST00000593041.1_lincRNA|CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	104	Poly-Gly.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G104del(3)|p.Q87fs*32(2)|p.G96fs*56(2)|p.D105>GD(1)|p.L78_A174del(1)|p.G102_G104del(1)|p.Y7_G130del(1)|p.P97fs*55(1)|p.D105fs*56(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					TAGTCAAAGTcgccgccgccgcc	0.793			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																														0		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	13	Deletion - In frame(6)|Deletion - Frameshift(5)|Complex - frameshift(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(13)								3,787		1,1,393				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		3	1		dbSNP_133	1	3,1639		1,1,819	no	coding	CEBPA	NM_004364.3		2,2,1212	A1A1,A1R,RR		0.1827,0.3797,0.2467				6,2426				SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.311_313delGCG	19.37:g.33793017_33793019delCGC	ENSP00000427514:p.Gly104del		A7LNP2|P78319|Q05CA4	In_Frame_Del	DEL	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.G104in_frame_del	ENST00000498907.2	37	c.313_311	CCDS54243.1	19																																																																																			0	pirsf_CCAAT/enhancer-binding		0.793	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	13	1	0	0.00	0	0	CGC	NM_004364	0	0		33793010	-1	no_errors	ENST00000498907	ensembl	human	known	74_37	in_frame_del	1	0	66.67	0.00	2	0	DEL	0.998:0.995:1.000	0	-	33793010	CGC	-	33793008	7	5	49	1	0	1	0	1	0	0	0	0	3199	884	31	0	767	0	CEBPA	19	33793008	In_Frame_Del	DEL	CGC	TCGA-X7-A8M5-01A-11D-A423-09	24467587	33793008	25335975	27	563											
ATP6V1E1	529	genome.wustl.edu	37	chr22	18096014	18096014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctgtttctctttcttctCataatattccataatcttta	10	21	1	9	0	5	0	1	0	5	0	8	0	6	0	1	0	0	1	1	0	5	9			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chr22:18096014C>T	ENST00000253413.5	-	3	354	c.172G>A	c.(172-174)Gag>Aag	p.E58K	ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.E36K|ATP6V1E1_ENST00000478963.1_5'UTR|ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.E58K	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	58					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)		TCTTTCTTCTCATAATATTCC	0.373																																							0											0													151	146	148					22																	18096014		2203	4300	6503	SO:0001583	missense	0			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.172G>A	22.37:g.18096014C>T	ENSP00000253413:p.Glu58Lys		A8MUE4|A8MUN4	Missense_Mutation	SNP	pfam_ATPase_V1/A1-cplx_esu	p.E58K	ENST00000253413.5	37	c.172	CCDS13745.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.743589	0.96873	.	.	ENSG00000131100	ENST00000253413;ENST00000399796;ENST00000399798;ENST00000413576	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83041	0.5168	M	0.85041	2.73	0.80722	D	1	P;D;P	0.59767	0.933;0.986;0.933	P;D;P	0.65573	0.864;0.936;0.794	D	0.86236	0.1640	9	0.87932	D	0	-20.9163	17.3723	0.87382	0.0:1.0:0.0:0.0	.	36;58;58	A8MUE4;A8MUN4;P36543	.;.;VATE1_HUMAN	K	58;58;36;59	.	ENSP00000253413:E58K	E	-	1	0	ATP6V1E1	16476014	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.406000	0.80017	2.381000	0.81170	0.655000	0.94253	GAG	0	pfam_ATPase_V1/A1-cplx_esu		0.373	ATP6V1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1E1	protein_coding	OTTHUMT00000131790.3	43	72	0	0.00	0	0	C	NM_001696	0	0		18096014	-1	no_errors	ENST00000253413	ensembl	human	known	74_37	missense	32	50	31.91	31.51	15	23	SNP	1	T	T	18096014	C	T	18096014	3	4	49	1	0	0	0	0	1	0	0	0	1183	835	29	3	536	3	ATP6V1E1	22	18096014	Missense_Mutation	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09		18096014	33208552	28	564											
KIAA2022	340533	genome.wustl.edu	37	chrX	73960473	73960473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaattcccgttggtcatcatCcagaaggctgttggtgttgg	8	13	12	8	1	2	1	2	0	0	1	4	1	4	1	2	4	0	4	2	4	2	4			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chrX:73960473C>T	ENST00000055682.6	-	3	4530	c.3919G>A	c.(3919-3921)Gat>Aat	p.D1307N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1307					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						TGGTCATCATCCAGAAGGCTG	0.522																																							0											0													123	113	117					X																	73960473		2203	4300	6503	SO:0001583	missense	0				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.3919G>A	X.37:g.73960473C>T	ENSP00000055682:p.Asp1307Asn		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.D1307N	ENST00000055682.6	37	c.3919	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797904	0.50208	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.28069	1.63;1.63	5.55	5.55	0.83447	.	0.234665	0.43747	D	0.000521	T	0.30008	0.0751	N	0.19112	0.55	0.45366	D	0.998355	P	0.37370	0.592	B	0.42959	0.403	T	0.12091	-1.0561	10	0.62326	D	0.03	-6.2997	18.525	0.90968	0.0:1.0:0.0:0.0	.	1307	Q5QGS0	K2022_HUMAN	N	1307	ENSP00000362567:D1307N;ENSP00000055682:D1307N	ENSP00000055682:D1307N	D	-	1	0	KIAA2022	73877198	0.997000	0.39634	0.986000	0.45419	0.874000	0.50279	3.567000	0.53813	2.317000	0.78254	0.544000	0.68410	GAT	0	NULL		0.522	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	87	183	0	0.00	0	0	C	NM_001008537	0	0		73960473	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	66	122	17.5	21.29	14	33	SNP	1	T	T	73960473	C	T	73960473	3	4	49	1	0	0	0	0	1	0	0	0	8269	855	30	3	639	3	KIAA2022	23	73960473	Missense_Mutation	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09		73960473	81310087	29	565											
KIAA2022	340533	genome.wustl.edu	37	chrX	73961545	73961545	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatcttgcatggagtcataCaggaccttgttgcaattact	10	14	9	8	0	2	0	1	0	1	0	2	2	2	2	1	2	4	4	1	2	4	6			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chrX:73961545C>A	ENST00000055682.6	-	3	3458	c.2847G>T	c.(2845-2847)ctG>ctT	p.L949L		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	949					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						TGGAGTCATACAGGACCTTGT	0.443																																							0											0													175	150	158					X																	73961545		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2847G>T	X.37:g.73961545C>A			A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.L949	ENST00000055682.6	37	c.2847	CCDS35337.1	X																																																																																			0	NULL		0.443	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	130	281	0	0.00	0	0	C	NM_001008537	0	0		73961545	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	silent	73	187	33.03	28.90	36	76	SNP	0.658	A	A	73961545	C	A	73961545	2	1	49	1	0	0	0	0	0	0	0	1	8269	465	17	5		5	KIAA2022	23	73961545	Silent	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09	1072	73961545	81309015	30	566											
DCAF12L2	340578	genome.wustl.edu	37	chrX	125299320	125299320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccaggcgactgcgaagatCcagtccttgtggccatggcg	8	7	14	12	3	0	1	0	0	0	1	2	3	2	1	4	3	2	0	4	3	1	1			TCGA-X7-A8M5-01A-11D-A423-09	TCGA-X7-A8M5-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7cb17e0e-abf2-4163-a81e-7ef59447b487	7ff26f12-0ca9-4c32-a2a2-53c5d9fc0351	g.chrX:125299320C>A	ENST00000360028.2	-	1	614	c.588G>T	c.(586-588)tgG>tgT	p.W196C	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.W196C			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	196										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						CTGCGAAGATCCAGTCCTTGT	0.652																																							0											0													43	47	46					X																	125299320		2203	4299	6502	SO:0001583	missense	0			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.588G>T	X.37:g.125299320C>A	ENSP00000353128:p.Trp196Cys		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W196C	ENST00000360028.2	37	c.588	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117867	0.56505	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.60548	0.18;0.18	3.87	3.87	0.44632	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.31290	N	0.007916	T	0.76154	0.3948	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.80355	-0.1417	10	0.66056	D	0.02	.	12.7615	0.57367	0.0:1.0:0.0:0.0	.	196	Q5VW00	DC122_HUMAN	C	196	ENSP00000441489:W196C;ENSP00000353128:W196C	ENSP00000353128:W196C	W	-	3	0	DCAF12L2	125127001	1.000000	0.71417	0.978000	0.43139	0.674000	0.39518	4.975000	0.63777	2.167000	0.68274	0.544000	0.68410	TGG	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.652	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	protein_coding	OTTHUMT00000058181.1	134	10	0	0.00	0	0	C	NM_001013628	0	0		125299320	-1	no_errors	ENST00000360028	ensembl	human	known	74_37	missense	87	4	38.3	44.44	54	4	SNP	1	A	A	125299320	C	A	125299320	3	1	49	1	0	0	0	0	1	0	0	0	4265	856	30	5	807	5	DCAF12L2	23	125299320	Missense_Mutation	SNP	C	TCGA-X7-A8M5-01A-11D-A423-09	51337775	125299320	29971240	31	567											
HS6ST1	9394	genome.wustl.edu	37	chr2	129075624	129075625	+	Frame_Shift_Ins	INS	-	-	CGCGGCGGAGT																															gctcacctgggcgtgcgcagINScgcggcggagtcgcggcggt																										TCGA-X7-A8M6-01A-11D-A423-09	TCGA-X7-A8M6-10A-01D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a1849c12-78d5-4d3c-8a68-172dada856d7	73a963e7-20d3-4c1a-8a0b-c5f45ca2dea2	g.chr2:129075624_129075625insCGCGGCGGAGT	ENST00000259241.6	-	1	526_527	c.513_514insACTCCGCCGCG	c.(511-516)gcgctgfs	p.L172fs	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	172					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)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGCGTGCGCAGCGCGGCGGAGT	0.767																																							0											0																																										SO:0001589	frameshift_variant	0			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.503_513dupACTCCGCCGCG	2.37:g.129075625_129075635dupCGCGGCGGAGT	ENSP00000259241:p.Leu172fs		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Frame_Shift_Ins	INS	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.L171fs	ENST00000259241.6	37	c.514_513	CCDS42748.1	2																																																																																			0	pfam_Sulfotransferase,superfamily_P-loop_NTPase		0.767	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	protein_coding	OTTHUMT00000331572.1	12	4	0	0.00	0	0	0	NM_004807	0	0		129075625	-1	no_errors	ENST00000259241	ensembl	human	known	74_37	frame_shift_ins	4	3	33.33	0.00	2	0	INS	0.974:0.969	CGCGGCGGAGT	CGCGGCGGAGT	129075625	-	CGCGGCGGAGT	129075624	7	5	50	1	0	1	1	0	0	0	0	0	7370	962	34	0	729	0	HS6ST1	2	129075624	Frame_Shift_Ins	INS	-	TCGA-X7-A8M6-01A-11D-A423-09		129075624	114123749	1	568											
MARCH10	162333	genome.wustl.edu	37	chr17	60788603	60788603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagacttaccctctctctttCcacctggttgtggttgagcc	5	14	8	14	0	2	2	0	1	2	1	4	2	3	2	4	2	2	2	4	2	1	4			TCGA-X7-A8M6-01A-11D-A423-09	TCGA-X7-A8M6-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a1849c12-78d5-4d3c-8a68-172dada856d7	73a963e7-20d3-4c1a-8a0b-c5f45ca2dea2	g.chr17:60788603C>G	ENST00000311269.5	-	9	2591	c.2317G>C	c.(2317-2319)Gaa>Caa	p.E773Q	MARCH10_ENST00000456609.2_Missense_Mutation_p.E773Q|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.E811Q|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.E772Q|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	773					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTCTCTCTTTCCACCTGGTTG	0.517																																							0											0													137	128	131					17																	60788603		2203	4300	6503	SO:0001583	missense	0			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.2317G>C	17.37:g.60788603C>G	ENSP00000311496:p.Glu773Gln		D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E773Q	ENST00000311269.5	37	c.2317	CCDS11635.1	17	.	.	.	.	.	.	.	.	.	.	C	7.450	0.642570	0.14451	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.11712	2.76;2.76;2.75	4.84	-3.58	0.04597	.	2.965220	0.01214	N	0.007915	T	0.05731	0.0150	N	0.22421	0.69	0.09310	N	1	P;P;P	0.38420	0.497;0.63;0.497	B;B;B	0.34652	0.091;0.187;0.091	T	0.15925	-1.0420	10	0.21014	T	0.42	9.5973	0.5783	0.00708	0.313:0.2143:0.1136:0.3591	.	772;772;773	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	Q	773;773;772	ENSP00000416177:E773Q;ENSP00000311496:E773Q;ENSP00000443746:E772Q	ENSP00000311496:E773Q	E	-	1	0	MARCH10	58142335	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.338000	0.02655	-1.149000	0.02843	0.561000	0.74099	GAA	0	NULL		0.517	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	protein_coding	OTTHUMT00000445252.1	40	178	0	0.00	0	0	C	NM_152598	0	0		60788603	-1	no_errors	ENST00000311269	ensembl	human	known	74_37	missense	20	195	16.67	7.14	4	15	SNP	0	G	G	60788603	C	G	60788603	3	3	50	1	0	0	0	0	1	0	0	0	9299	864	30	5	121	5	MARCH10	17	60788603	Missense_Mutation	SNP	C	TCGA-X7-A8M6-01A-11D-A423-09		60788603	20406607	2	569											
LTK	4058	genome.wustl.edu	37	chr15	41803413	41803413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggccccgccgccgccccCgaagccgccggccgcggccc	3	0	14	24	8	0	0	0	0	0	0	0	1	0	0	10	3	1	1	10	3	1	0			TCGA-X7-A8M8-01A-11D-A423-09	TCGA-X7-A8M8-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3d82a92d-1100-407d-b801-e290b1adf49a	6aeda5d6-c06b-48cf-9a2c-543e995105fd	g.chr15:41803413C>G	ENST00000263800.6	-	7	1042	c.946G>C	c.(946-948)Ggg>Cgg	p.G316R	LTK_ENST00000355166.5_Intron|LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	316					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)		ccgccgcccccgaagccgccg	0.781										TSP Lung(18;0.14)																													0											0													2	3	2					15																	41803413		804	1920	2724	SO:0001583	missense	0			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.946G>C	15.37:g.41803413C>G	ENSP00000263800:p.Gly316Arg		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.G316R	ENST00000263800.6	37	c.946	CCDS10077.1	15	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714588	0.48622	.	.	ENSG00000062524	ENST00000360087;ENST00000263800	D	0.86230	-2.09	3.93	3.0	0.34707	.	.	.	.	.	D	0.89128	0.6627	M	0.79123	2.44	0.80722	D	1	P	0.43314	0.803	P	0.51945	0.685	D	0.87498	0.2431	9	0.87932	D	0	.	5.0433	0.14471	0.2037:0.687:0.0:0.1093	.	316	P29376	LTK_HUMAN	R	316	ENSP00000263800:G316R	ENSP00000263800:G316R	G	-	1	0	LTK	39590705	0.861000	0.29849	0.411000	0.26484	0.966000	0.64601	1.595000	0.36708	0.865000	0.35603	0.644000	0.83932	GGG	0	NULL		0.781	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	protein_coding	OTTHUMT00000252690.2	22	18	0	0.00	0	0	C		0	0		41803413	-1	no_errors	ENST00000263800	ensembl	human	known	74_37	missense	14	10	22.22	0.00	4	0	SNP	0.958	G	G	41803413	C	G	41803413	3	3	51	1	0	0	0	0	1	0	0	0	9080	652	23	5	1704	5	LTK	15	41803413	Missense_Mutation	SNP	C	TCGA-X7-A8M8-01A-11D-A423-09		41803413	60727979	1	570											
PPAP2B	8613	genome.wustl.edu	37	chr1	57044568	57044568	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccatgaagaggcagaagAggtcgaggcagatgagcagc	14	3	15	9	1	0	6	0	2	0	4	1	7	0	6	1	3	2	3	1	3	2	0			TCGA-XH-A853-01A-11D-A423-09	TCGA-XH-A853-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	baa4c33d-c706-4a74-b55c-b58396e8cebe	cc062673-2f64-4f9d-9e74-818f2ea5a1d6	g.chr1:57044568A>C	ENST00000371250.3	-	1	673	c.122T>G	c.(121-123)cTc>cGc	p.L41R		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	41					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						GAGGCAGAAGAGGTCGAGGCA	0.711																																							0											0													38	40	40					1																	57044568		2203	4300	6503	SO:0001583	missense	0			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.122T>G	1.37:g.57044568A>C	ENSP00000360296:p.Leu41Arg		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L41R	ENST00000371250.3	37	c.122	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277934	0.59758	.	.	ENSG00000162407	ENST00000371250	T	0.75938	-0.98	4.74	4.74	0.60224	.	0.171305	0.22476	U	0.059553	T	0.69922	0.3165	L	0.47716	1.5	0.34223	D	0.675694	B	0.22541	0.071	B	0.31337	0.128	T	0.77000	-0.2750	10	0.87932	D	0	.	11.2322	0.48918	0.8474:0.1526:0.0:0.0	.	41	O14495	LPP3_HUMAN	R	41	ENSP00000360296:L41R	ENSP00000360296:L41R	L	-	2	0	PPAP2B	56817156	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.902000	0.63266	2.107000	0.64212	0.456000	0.33151	CTC	0	superfamily_P_Acid_Pase_2/haloperoxidase		0.711	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	protein_coding	OTTHUMT00000022334.2	59	26	0	0.00	0	0	A	NM_003713	0	0		57044568	-1	no_errors	ENST00000371250	ensembl	human	known	74_37	missense	49	31	9.26	11.43	5	4	SNP	1	C	C	57044568	A	C	57044568	3	2	52	1	0	0	0	0	1	0	0	0	12291	304	11	5	837	5	PPAP2B	1	57044568	Missense_Mutation	SNP	A	TCGA-XH-A853-01A-11D-A423-09		57044568	192206053	1	571											
XRN1	54464	genome.wustl.edu	37	chr3	142037736	142037736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agataattttacttggcaaaCggtcattgtctaaaaaaaga	17	12	7	5	1	2	2	1	0	1	2	2	2	2	2	0	2	2	1	0	2	7	6			TCGA-XH-A853-01A-11D-A423-09	TCGA-XH-A853-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	baa4c33d-c706-4a74-b55c-b58396e8cebe	cc062673-2f64-4f9d-9e74-818f2ea5a1d6	g.chr3:142037736C>T	ENST00000264951.4	-	38	4528	c.4411G>A	c.(4411-4413)Gtt>Att	p.V1471I	XRN1_ENST00000392981.2_Missense_Mutation_p.V1472I	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1471					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						ACTTGGCAAACGGTCATTGTC	0.348																																							0											0													78	76	77					3																	142037736		2203	4300	6503	SO:0001583	missense	0			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.4411G>A	3.37:g.142037736C>T	ENSP00000264951:p.Val1471Ile		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.V1471I	ENST00000264951.4	37	c.4411	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485590	0.26686	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.36520	1.25;1.29	4.85	2.04	0.26737	.	0.238496	0.33854	N	0.004489	T	0.15912	0.0383	N	0.12182	0.205	0.80722	D	1	B;B	0.33238	0.403;0.282	B;B	0.19148	0.024;0.011	T	0.08827	-1.0703	10	0.27082	T	0.32	-15.0349	10.3607	0.43991	0.0:0.7871:0.0:0.2129	.	1472;1471	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	I	1471;1472	ENSP00000264951:V1471I;ENSP00000376707:V1472I	ENSP00000264951:V1471I	V	-	1	0	XRN1	143520426	0.963000	0.33076	1.000000	0.80357	0.764000	0.43329	0.727000	0.25999	1.021000	0.39600	-0.244000	0.11960	GTT	0	pirsf_5_3_exoribonuclease_1		0.348	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	protein_coding	OTTHUMT00000354087.2	160	208	0	0.48	0	1	C	NM_019001	0	0		142037736	-1	no_errors	ENST00000264951	ensembl	human	known	74_37	missense	116	360	10.77	7.93	14	31	SNP	0.988	T	T	142037736	C	T	142037736	3	4	52	1	0	0	0	0	1	0	0	0	17456	536	19	1	729	1	XRN1	3	142037736	Missense_Mutation	SNP	C	TCGA-XH-A853-01A-11D-A423-09		142037736	55984694	2	572											
RIMBP2	23504	genome.wustl.edu	37	chr12	130890754	130890754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaatttcaccaaaaactGtaataatatctcctgtgcaa	16	12	3	10	0	3	0	2	0	1	0	4	0	3	0	2	0	2	2	2	0	7	4			TCGA-XH-A853-01A-11D-A423-09	TCGA-XH-A853-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	baa4c33d-c706-4a74-b55c-b58396e8cebe	cc062673-2f64-4f9d-9e74-818f2ea5a1d6	g.chr12:130890754G>A	ENST00000261655.4	-	17	3123	c.2960C>T	c.(2959-2961)aCa>aTa	p.T987I		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	987	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		ACCAAAAACTGTAATAATATC	0.259																																							0											0													57	60	59					12																	130890754		2203	4299	6502	SO:0001583	missense	0			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.2960C>T	12.37:g.130890754G>A	ENSP00000261655:p.Thr987Ile		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.T987I	ENST00000261655.4	37	c.2960	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316548	0.81469	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.53423	0.62;0.62	5.26	3.36	0.38483	Src homology-3 domain (3);Variant SH3 (1);	0.057942	0.64402	D	0.000002	T	0.36082	0.0954	N	0.25426	0.745	0.80722	D	1	P	0.37207	0.587	B	0.42112	0.376	T	0.04294	-1.0962	10	0.18276	T	0.48	-12.876	10.7588	0.46253	0.0:0.2688:0.5919:0.1393	.	987	O15034	RIMB2_HUMAN	I	987;124	ENSP00000261655:T987I;ENSP00000439030:T124I	ENSP00000261655:T987I	T	-	2	0	RIMBP2	129456707	0.997000	0.39634	0.184000	0.23157	0.941000	0.58515	3.813000	0.55636	0.657000	0.30906	0.563000	0.77884	ACA	0	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.259	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	101	257	0	0.00	0	0	G	NM_015347	0	0		130890754	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	54	430	10	6.93	6	32	SNP	0.801	A	A	130890754	G	A	130890754	3	1	52	1	0	0	0	0	1	0	0	0	13363	1377	48	3	210	3	RIMBP2	12	130890754	Missense_Mutation	SNP	G	TCGA-XH-A853-01A-11D-A423-09		130890754	2961141	3	573											
CEP250	11190	genome.wustl.edu	37	chr20	34067816	34067816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaggggaagtgaggtgccTgaagctggaactggacactg	10	8	17	6	0	0	2	0	2	0	0	0	5	0	5	1	5	3	2	1	5	4	1			TCGA-XH-A853-01A-11D-A423-09	TCGA-XH-A853-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	baa4c33d-c706-4a74-b55c-b58396e8cebe	cc062673-2f64-4f9d-9e74-818f2ea5a1d6	g.chr20:34067816T>C	ENST00000397527.1	+	20	3152	c.2432T>C	c.(2431-2433)cTg>cCg	p.L811P	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.L811P|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	811	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)			GTGAGGTGCCTGAAGCTGGAA	0.577																																							0											0													78	79	78					20																	34067816		2203	4300	6503	SO:0001583	missense	0			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.2432T>C	20.37:g.34067816T>C	ENSP00000380661:p.Leu811Pro		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.L811P	ENST00000397527.1	37	c.2432	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	T	19.84	3.902062	0.72754	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.16196	2.36;2.44	4.59	4.59	0.56863	.	0.179093	0.26812	N	0.022377	T	0.43100	0.1232	M	0.79805	2.47	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.44221	-0.9342	10	0.66056	D	0.02	.	12.6931	0.56988	0.0:0.0:0.0:1.0	.	811	Q9BV73	CP250_HUMAN	P	811	ENSP00000380661:L811P;ENSP00000341541:L811P	ENSP00000341541:L811P	L	+	2	0	CEP250	33531230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.644000	0.61397	1.943000	0.56356	0.459000	0.35465	CTG	0	NULL		0.577	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	protein_coding	OTTHUMT00000078877.7	87	82	0	0.00	0	0	T	NM_007186	0	0		34067816	1	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	71	122	8.97	6.87	7	9	SNP	1	C	C	34067816	T	C	34067816	3	2	52	1	0	0	0	0	1	0	0	0	3252	1580	55	4	2498	4	CEP250	20	34067816	Missense_Mutation	SNP	T	TCGA-XH-A853-01A-11D-A423-09		34067816	28957704	4	574											
LARGE	9215	genome.wustl.edu	37	chr22	33700401	33700401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcagagccctgtgcgtagCggaggaactgctgggcctcg	6	7	15	13	3	1	1	1	0	0	1	2	3	1	3	3	3	5	2	3	3	2	1	rs368030516		TCGA-XH-A853-01A-11D-A423-09	TCGA-XH-A853-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	baa4c33d-c706-4a74-b55c-b58396e8cebe	cc062673-2f64-4f9d-9e74-818f2ea5a1d6	g.chr22:33700401C>T	ENST00000354992.2	-	13	2115	c.1544G>A	c.(1543-1545)cGc>cAc	p.R515H	LARGE_ENST00000397394.2_Missense_Mutation_p.R515H|LARGE_ENST00000402320.1_Missense_Mutation_p.R463H|LARGE_ENST00000452586.2_Missense_Mutation_p.R314H|LARGE_ENST00000437602.2_Missense_Mutation_p.R515H|LARGE_ENST00000337431.2_Missense_Mutation_p.R463H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	515					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CTGTGCGTAGCGGAGGAACTG	0.627																																					Colon(70;397 1175 4573 19089 45288)		0											0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80	66	70		1544,1544	4.2	1	22		70	0,8600		0,0,4300	no	missense,missense	LARGE	NM_004737.4,NM_133642.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	515/757,515/757	33700401	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1544G>A	22.37:g.33700401C>T	ENSP00000347088:p.Arg515His		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.R515H	ENST00000354992.2	37	c.1544	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368647	0.42003	2.27E-4	0.0	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.55052	0.98;1.03;0.98;1.03;0.54;1.95	5.27	4.24	0.50183	.	0.046988	0.85682	D	0.000000	T	0.45895	0.1365	L	0.45581	1.43	0.80722	D	1	B;B;B;B	0.33857	0.429;0.023;0.211;0.126	B;B;B;B	0.31191	0.125;0.008;0.052;0.059	T	0.39313	-0.9620	10	0.33940	T	0.23	-1.2646	15.8902	0.79291	0.0:0.8643:0.1357:0.0	.	515;314;463;515	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	H	192;192;515;463;515;463;314;515	ENSP00000347088:R515H;ENSP00000336636:R463H;ENSP00000380549:R515H;ENSP00000385223:R463H;ENSP00000407917:R314H;ENSP00000388544:R515H	ENSP00000336636:R463H	R	-	2	0	LARGE	32030401	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.257000	0.78362	1.204000	0.43247	-0.176000	0.13171	CGC	0	NULL		0.627	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	protein_coding	OTTHUMT00000320515.2	98	75	0	0.00	0	0	C	NM_133642	rs368030516	C->T		33700401	-1	no_errors	ENST00000354992	ensembl	human	known	74_37	missense	58	127	7.94	7.97	5	11	SNP	1	T	T	33700401	C	T	33700401	3	4	52	1	0	0	0	0	1	0	0	0	8627	768	27	1	742	1	LARGE	22	33700401	Missense_Mutation	SNP	C	TCGA-XH-A853-01A-11D-A423-09		33700401	17604165	5	575											
ZNF771	51333	genome.wustl.edu	37	chr16	30429457	30429457	+	Frame_Shift_Del	DEL	C	C	-																															gtgtgtggccgtcgcttcggCcaccgctccaacctggcgga																										TCGA-XM-A8R8-01A-11D-A423-09	TCGA-XM-A8R8-10B-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2dec0f54-95e7-4caf-bf8e-f5b83f3b86ea	bf687418-d320-4614-ac47-8ac5d2ec3c03	g.chr16:30429457delC	ENST00000319296.5	+	3	1100	c.723delC	c.(721-723)ggcfs	p.G241fs	ZNF771_ENST00000566625.1_Intron|SNORA42_ENST00000362917.1_RNA|ZNF771_ENST00000434417.1_Frame_Shift_Del_p.G241fs			Q7L3S4	ZN771_HUMAN	zinc finger protein 771	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)							Colorectal(24;0.193)			GTCGCTTCGGCCACCGCTCCA	0.736																																							0											0													2	2	2					16																	30429457		1533	3177	4710	SO:0001589	frameshift_variant	0			BC026192	CCDS45460.1	16p11.2	2013-01-08				ENSG00000179965		"Zinc fingers, C2H2-type"	29653	protein-coding gene	gene with protein product						12477932	Standard	NM_016643		Approved	DSC43	uc010ver.2	Q7L3S4		ENST00000319296.5:c.723delC	16.37:g.30429457delC	ENSP00000323945:p.Gly241fs		Q8TAQ7|Q9NYI6	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H242fs	ENST00000319296.5	37	c.723	CCDS45460.1	16																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.736	ZNF771-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF771	protein_coding	OTTHUMT00000434612.2	8	6	0	0.00	0	0	C	NM_016643	0	0		30429457	1	no_errors	ENST00000319296	ensembl	human	known	74_37	frame_shift_del	4	9	33.33	0.00	2	0	DEL	0.995	0	-	30429457	C	-	30429457	7	5	53	1	0	1	0	1	0	0	0	0	18141	726	26	0	729	0	ZNF771	16	30429457	Frame_Shift_Del	DEL	C	TCGA-XM-A8R8-01A-11D-A423-09		30429457	59925296	1	576											
BRD4	23476	genome.wustl.edu	37	chr19	15349681	15349683	+	In_Frame_Del	DEL	TGC	TGC	-																															ccaccgcagctgcttgctgtTgctgctgctgctgttgctcc																										TCGA-XM-A8R8-01A-11D-A423-09	TCGA-XM-A8R8-10B-01D-A426-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2dec0f54-95e7-4caf-bf8e-f5b83f3b86ea	bf687418-d320-4614-ac47-8ac5d2ec3c03	g.chr19:15349681_15349683delTGC	ENST00000263377.2	-	19	4112_4114	c.3891_3893delGCA	c.(3889-3894)cagcaa>caa	p.1297_1298QQ>Q	AC004257.3_ENST00000602793.1_lincRNA	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1297	C-terminal (CTD) region.|Poly-Gln.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tgcttgctgttgctgctgctgct	0.709			T	C15orf55	lethal midline carcinoma of young people																																		0		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0										32,3972		7,18,1977						0.8	1			9	56,7828		7,42,3893	no	coding	BRD4	NM_058243.2		14,60,5870	A1A1,A1R,RR		0.7103,0.7992,0.7402				88,11800				SO:0001651	inframe_deletion	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3891_3893delGCA	19.37:g.15349690_15349692delTGC	ENSP00000263377:p.Gln1300del		O60433|Q4G0X8|Q86YS8|Q96PD3	In_Frame_Del	DEL	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q1300in_frame_del	ENST00000263377.2	37	c.3893_3891	CCDS12328.1	19																																																																																			0	NULL		0.709	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	protein_coding	OTTHUMT00000465800.3	55	7	0	0.00	0	0	TGC	NM_058243	0	0		15349683	-1	no_errors	ENST00000263377	ensembl	human	known	74_37	in_frame_del	17	7	10.53	0.00	2	0	DEL	1.000:1.000:1.000	0	-	15349683	TGC	-	15349681	7	5	53	1	0	1	0	1	0	0	0	0	1504	1812	63	0	203	0	BRD4	19	15349681	In_Frame_Del	DEL	TGC	TCGA-XM-A8R8-01A-11D-A423-09		15349681	43779302	2	577											
NT5C1B	93034	genome.wustl.edu	37	chr2	18765869	18765871	+	In_Frame_Del	DEL	GCT	GCT	-																															gtagtcgtcctcgtcctcccGctgctgctgctgctgctcgg																								rs145060005		TCGA-XM-A8R9-01A-31D-A423-09	TCGA-XM-A8R9-10A-01D-A426-09	GCT	GCT	GCT	-	GCT	GCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	af0ac1c2-2335-4517-96b0-96f4c804eab6	4d060e5b-e384-403d-a14a-1fe57d89d74e	g.chr2:18765869_18765871delGCT	ENST00000359846.2	-	5	889_891	c.812_814delAGC	c.(811-816)cagcgg>cgg	p.Q271del	NT5C1B_ENST00000600945.1_In_Frame_Del_p.Q271del|NT5C1B-RDH14_ENST00000532967.1_In_Frame_Del_p.Q271del|NT5C1B_ENST00000304081.4_In_Frame_Del_p.Q211del|NT5C1B_ENST00000460052.1_5'Flank|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	271	Poly-Gln.				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)				TCGTCCTCCCGCTGCTGCTGCTG	0.67																																							0											0																																										SO:0001651	inframe_deletion	0			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.812_814delAGC	2.37:g.18765878_18765880delGCT	ENSP00000352904:p.Gln271del		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	In_Frame_Del	DEL	pfam_5-nucleotidase	p.Q271in_frame_del	ENST00000359846.2	37	c.814_812	CCDS33150.1	2																																																																																			0	NULL		0.67	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	protein_coding	OTTHUMT00000323822.1	54	57	0	0.00	0	0	GCT		rs145060005	CGCT->C		18765871	-1	no_errors	ENST00000359846	ensembl	human	known	74_37	in_frame_del	34	44	10.53	4.35	4	2	DEL	0.009:0.011:0.004	0	-	18765871	GCT	-	18765869	7	5	54	1	0	1	0	1	0	0	0	0	10686	1086	38	0	1042	0	NT5C1B	2	18765869	In_Frame_Del	DEL	GCT	TCGA-XM-A8R9-01A-31D-A423-09		18765869	224433504	1	578											
SDAD1	55153	genome.wustl.edu	37	chr4	76879002	76879002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaattttcagacttacgaTttcttgctgttcttcatcgg	8	18	7	8	2	4	2	2	1	2	1	5	3	4	2	0	1	2	2	0	1	2	7			TCGA-XM-A8R9-01A-31D-A423-09	TCGA-XM-A8R9-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	af0ac1c2-2335-4517-96b0-96f4c804eab6	4d060e5b-e384-403d-a14a-1fe57d89d74e	g.chr4:76879002T>C	ENST00000356260.5	-	18	1694	c.1576A>G	c.(1576-1578)Atc>Gtc	p.I526V	SDAD1_ENST00000395711.4_Missense_Mutation_p.I489V|SDAD1_ENST00000513089.1_5'Flank	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	526					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)			AGACTTACGATTTCTTGCTGT	0.423																																							0											0													156	149	152					4																	76879002		2203	4300	6503	SO:0001583	missense	0			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.1576A>G	4.37:g.76879002T>C	ENSP00000348596:p.Ile526Val		Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold	p.I526V	ENST00000356260.5	37	c.1576	CCDS3573.2	4	.	.	.	.	.	.	.	.	.	.	T	7.416	0.635647	0.14322	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;D	0.85484	2.01;-1.99	5.41	1.54	0.23209	SDA1 (2);	0.241030	0.41500	N	0.000866	T	0.64832	0.2634	N	0.11560	0.145	0.26367	N	0.976959	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49862	-0.8894	10	0.28530	T	0.3	-7.2709	3.2564	0.06834	0.1651:0.2535:0.0:0.5814	.	489;526	E7EW05;Q9NVU7	.;SDA1_HUMAN	V	526;489	ENSP00000348596:I526V;ENSP00000379061:I489V	ENSP00000348596:I526V	I	-	1	0	SDAD1	77098026	0.998000	0.40836	0.968000	0.41197	0.695000	0.40330	0.765000	0.26546	0.326000	0.23384	0.454000	0.30748	ATC	0	pfam_SDA1_dom		0.423	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1	protein_coding	OTTHUMT00000252418.3	69	153	0	0.00	0	0	T	NM_018115	0	0		76879002	-1	no_errors	ENST00000356260	ensembl	human	known	74_37	missense	56	127	9.68	8.63	6	12	SNP	1	C	C	76879002	T	C	76879002	3	2	54	1	0	0	0	0	1	0	0	0	13950	1493	52	3	507	3	SDAD1	4	76879002	Missense_Mutation	SNP	T	TCGA-XM-A8R9-01A-31D-A423-09		76879002	114275274	2	579											
FCHO2	115548	genome.wustl.edu	37	chr5	72348254	72348254	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattaagcctatgcatccaAataactcacatcacacaatg	18	9	3	11	0	2	0	2	0	0	0	3	0	3	0	2	0	3	1	2	0	6	3			TCGA-XM-A8R9-01A-31D-A423-09	TCGA-XM-A8R9-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	af0ac1c2-2335-4517-96b0-96f4c804eab6	4d060e5b-e384-403d-a14a-1fe57d89d74e	g.chr5:72348254A>T	ENST00000430046.2	+	13	1209	c.1093A>T	c.(1093-1095)Aat>Tat	p.N365Y	FCHO2_ENST00000512348.1_Missense_Mutation_p.N332Y|FCHO2_ENST00000341845.6_Missense_Mutation_p.N365Y	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	365					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)		TATGCATCCAAATAACTCACA	0.368																																							0											0													96	90	92					5																	72348254		1860	4106	5966	SO:0001583	missense	0			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.1093A>T	5.37:g.72348254A>T	ENSP00000393776:p.Asn365Tyr		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.N365Y	ENST00000430046.2	37	c.1093	CCDS47230.1	5	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630614	0.46944	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.18338	2.22;2.22;2.22	5.47	3.03	0.35002	.	0.208128	0.48286	D	0.000181	T	0.14227	0.0344	L	0.59436	1.845	0.46774	D	0.999199	P;P	0.43287	0.802;0.561	B;B	0.32980	0.156;0.125	T	0.02789	-1.1110	10	0.66056	D	0.02	-7.9291	8.3042	0.32032	0.7973:0.1334:0.0692:0.0	.	332;365	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	Y	365;365;332	ENSP00000393776:N365Y;ENSP00000344034:N365Y;ENSP00000427296:N332Y	ENSP00000344034:N365Y	N	+	1	0	FCHO2	72384010	1.000000	0.71417	0.949000	0.38748	0.972000	0.66771	4.564000	0.60830	0.354000	0.24105	-0.321000	0.08615	AAT	0	NULL		0.368	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	protein_coding	OTTHUMT00000368795.3	95	403	0	0.00	0	0	A	XM_291142	0	0		72348254	1	no_errors	ENST00000341845	ensembl	human	known	74_37	missense	97	309	9.35	9.12	10	31	SNP	1	T	T	72348254	A	T	72348254	3	4	54	1	0	0	0	0	1	0	0	0	5788	14	1	5	1143	5	FCHO2	5	72348254	Missense_Mutation	SNP	A	TCGA-XM-A8R9-01A-31D-A423-09		72348254	108567006	3	580											
ONECUT1	3175	genome.wustl.edu	37	chr15	53081865	53081867	+	In_Frame_Del	DEL	GGT	GGT	-																															caggctgtgctcaggggcccGgtggtggtggtggtaatctc																										TCGA-XM-A8R9-01A-31D-A423-09	TCGA-XM-A8R9-10A-01D-A426-09	GGT	GGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	af0ac1c2-2335-4517-96b0-96f4c804eab6	4d060e5b-e384-403d-a14a-1fe57d89d74e	g.chr15:53081865_53081867delGGT	ENST00000305901.5	-	1	342_344	c.215_217delACC	c.(214-219)caccgg>cgg	p.H72del	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	72	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)		TCAGGGGCCCGGTGGTGGTGGTG	0.719																																							0											0																																										SO:0001651	inframe_deletion	0			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.215_217delACC	15.37:g.53081874_53081876delGGT	ENSP00000302630:p.His72del		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.H72in_frame_del	ENST00000305901.5	37	c.217_215	CCDS10150.1	15																																																																																			0	NULL		0.719	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT1	protein_coding	OTTHUMT00000254849.2	43	11	2.27	0.00	1	0	GGT		0	0		53081867	-1	no_errors	ENST00000305901	ensembl	human	known	74_37	in_frame_del	32	5	13.51	0.00	5	0	DEL	1.000:1.000:1.000	0	-	53081867	GGT	-	53081865	7	5	54	1	0	1	0	1	0	0	0	0	10868	1115	39	0	1188	0	ONECUT1	15	53081865	In_Frame_Del	DEL	GGT	TCGA-XM-A8R9-01A-31D-A423-09		53081865	49449527	4	581											
PKNOX1	5316	genome.wustl.edu	37	chr21	44450115	44450115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatggcagggcagagcgaGgacgagtctgtggacagcac	11	5	17	8	2	1	2	0	1	1	1	1	6	1	4	0	4	2	3	0	4	0	0			TCGA-XM-A8R9-01A-31D-A423-09	TCGA-XM-A8R9-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	af0ac1c2-2335-4517-96b0-96f4c804eab6	4d060e5b-e384-403d-a14a-1fe57d89d74e	g.chr21:44450115G>A	ENST00000291547.5	+	11	1426	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	PKNOX1_ENST00000432907.2_Silent_p.E288E	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	405					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GGCAGAGCGAGGACGAGTCTG	0.647																																							0											0													87	76	79					21																	44450115		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.1215G>A	21.37:g.44450115G>A			O00528|Q8IWT7	Silent	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.E405	ENST00000291547.5	37	c.1215	CCDS13692.1	21																																																																																			0	NULL		0.647	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	protein_coding	OTTHUMT00000195520.3	38	53	0	0.00	0	0	G		0	0		44450115	1	no_errors	ENST00000291547	ensembl	human	known	74_37	silent	32	38	13.51	7.32	5	3	SNP	1	A	A	44450115	G	A	44450115	2	1	54	1	0	0	0	0	0	0	0	1	11982	991	35	3		3	PKNOX1	21	44450115	Silent	SNP	G	TCGA-XM-A8R9-01A-31D-A423-09		44450115	3679780	5	582											
PLXNB2	23654	genome.wustl.edu	37	chr22	50719926	50719926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcgcgagagccgaacttCacctgtgtggggggccgggt	6	7	16	12	4	1	1	1	0	0	1	2	3	1	1	3	4	2	0	3	4	1	1			TCGA-XM-A8R9-01A-31D-A423-09	TCGA-XM-A8R9-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	af0ac1c2-2335-4517-96b0-96f4c804eab6	4d060e5b-e384-403d-a14a-1fe57d89d74e	g.chr22:50719926C>T	ENST00000449103.1	-	22	3665	c.3525G>A	c.(3523-3525)gtG>gtA	p.V1175V	PLXNB2_ENST00000359337.4_Silent_p.V1175V|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1175					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)		AGCCGAACTTCACCTGTGTGG	0.682																																							0											0													20	28	26					22																	50719926		2128	4217	6345	SO:0001819	synonymous_variant	0				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.3525G>A	22.37:g.50719926C>T			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.V1175	ENST00000449103.1	37	c.3525	CCDS43035.1	22																																																																																			0	NULL		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	protein_coding	OTTHUMT00000316874.3	60	47	0	0.00	0	0	C	NM_012401	0	0		50719926	-1	no_errors	ENST00000359337	ensembl	human	known	74_37	silent	30	39	16.67	9.30	6	4	SNP	1	T	T	50719926	C	T	50719926	2	4	54	1	0	0	0	0	0	0	0	1	12124	813	29	3		3	PLXNB2	22	50719926	Silent	SNP	C	TCGA-XM-A8R9-01A-31D-A423-09		50719926	584640	6	583											
PRAMEF2	65122	genome.wustl.edu	37	chr1	12918869	12918869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagatccatcaggatgaGcatccaggccccaccgagac	11	6	10	14	1	1	3	1	1	0	2	3	5	3	4	5	2	2	2	5	2	0	1			TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr1:12918869G>A	ENST00000240189.2	+	2	92	c.5G>A	c.(4-6)aGc>aAc	p.S2N		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	2					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)		ATCAGGATGAGCATCCAGGCC	0.552																																							0											0													76	85	82					1																	12918869		2201	4296	6497	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.5G>A	1.37:g.12918869G>A	ENSP00000240189:p.Ser2Asn			Missense_Mutation	SNP	NULL	p.S2N	ENST00000240189.2	37	c.5	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	g	7.634	0.679528	0.14907	.	.	ENSG00000120952	ENST00000240189	T	0.10573	2.86	0.842	0.842	0.18927	.	0.571295	0.18063	N	0.152892	T	0.13329	0.0323	L	0.45744	1.44	0.09310	N	1	B	0.21071	0.051	B	0.41619	0.361	T	0.34576	-0.9823	10	0.38643	T	0.18	.	5.0452	0.14480	0.0:0.0:1.0:0.0	.	2	O60811	PRAM2_HUMAN	N	2	ENSP00000240189:S2N	ENSP00000240189:S2N	S	+	2	0	PRAMEF2	12841456	0.007000	0.16637	0.013000	0.15412	0.004000	0.04260	-0.196000	0.09532	0.759000	0.33084	0.194000	0.17425	AGC	0	NULL		0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	protein_coding	OTTHUMT00000005517.1	50	7	0	0.00	0	0	G	NM_023014	0	0		12918869	1	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	31	7	13.89	0.00	5	0	SNP	0.015	A	A	12918869	G	A	12918869	3	1	55	1	0	0	0	0	1	0	0	0	12435	971	34	3	7	3	PRAMEF2	1	12918869	Missense_Mutation	SNP	G	TCGA-XM-A8RB-01A-11D-A423-09		12918869	236331752	1	584											
CROCC	9696	genome.wustl.edu	37	chr1	17281901	17281901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgcaagctgcgtgagaGccaggagggccgggaggtgc	8	3	19	11	3	0	1	0	1	0	1	0	4	0	3	3	4	5	2	3	4	1	0	rs531090814		TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr1:17281901G>T	ENST00000375541.5	+	24	3629	c.3560G>T	c.(3559-3561)aGc>aTc	p.S1187I		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)		CTGCGTGAGAGCCAGGAGGGC	0.711																																							0											0													11	14	13					1																	17281901		2192	4285	6477	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3560G>T	1.37:g.17281901G>T	ENSP00000364691:p.Ser1187Ile			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.S1187I	ENST00000375541.5	37	c.3560	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	5.576	0.291004	0.10567	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.49139	0.79	4.27	1.19	0.21007	.	.	.	.	.	T	0.31104	0.0786	L	0.29908	0.895	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.11329	0.006;0.006	T	0.23762	-1.0179	9	0.17369	T	0.5	.	8.152	0.31145	0.0884:0.2993:0.6123:0.0	.	490;1187	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	I	1187;1068	ENSP00000364691:S1187I	ENSP00000364691:S1187I	S	+	2	0	CROCC	17154488	0.807000	0.29009	0.087000	0.20705	0.171000	0.22731	2.198000	0.42705	0.145000	0.18977	-0.300000	0.09419	AGC	0	NULL		0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	protein_coding	OTTHUMT00000006249.2	24	6	0	0.00	0	0	G	NM_014675	0	0		17281901	1	no_errors	ENST00000375541	ensembl	human	known	74_37	missense	12	0	20	0.00	3	0	SNP	0.074	T	T	17281901	G	T	17281901	3	4	55	1	0	0	0	0	1	0	0	0	3893	971	34	5	3654	5	CROCC	1	17281901	Missense_Mutation	SNP	G	TCGA-XM-A8RB-01A-11D-A423-09	4363032	17281901	231968720	2	585											
INO80B	83444	genome.wustl.edu	37	chr2	74684681	74684681	+	Frame_Shift_Del	DEL	G	G	-																															gaccagtgggcggggaggccGggggggcgcacggggcgagc																										TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr2:74684681delG	ENST00000233331.7	+	5	855	c.761delG	c.(760-762)cggfs	p.R254fs	INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_3'UTR|WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000233615.2_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	254					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						cggggaggccgggggggcgca	0.736																																							0											0										12,2074		2,8,1033	2	2	2			2.2	1	2		2	29,4941		2,25,2458	no	frameshift	INO80B	NM_031288.3		4,33,3491	A1A1,A1R,RR		0.5835,0.5753,0.5811			74684681	41,7015	1343	3004	4347	SO:0001589	frameshift_variant	0			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.761delG	2.37:g.74684681delG	ENSP00000233331:p.Arg254fs			Frame_Shift_Del	DEL	pfam_INO80B_C,pfam_Znf_HIT	p.G256fs	ENST00000233331.7	37	c.761	CCDS1942.2	2																																																																																			0	pfam_INO80B_C		0.736	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80B	protein_coding	OTTHUMT00000252223.2	10	6	0	0.00	0	0	G	NM_031288	0	0		74684681	1	no_errors	ENST00000452361	ensembl	human	known	74_37	frame_shift_del	4	7	33.33	0.00	2	0	DEL	1	0	-	74684681	G	-	74684681	7	5	55	1	0	1	0	1	0	0	0	0	7747	1116	39	0	779	0	INO80B	2	74684681	Frame_Shift_Del	DEL	G	TCGA-XM-A8RB-01A-11D-A423-09		74684681	168514692	3	586											
TM2D2	83877	genome.wustl.edu	37	chr8	38851120	38851120	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactggcacactcaattccAtctaaggcatggcactggac	11	8	10	12	0	2	0	1	0	1	0	3	2	3	2	1	5	0	3	1	5	2	2			TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr8:38851120A>G	ENST00000456397.2	-	3	468	c.375T>C	c.(373-375)gaT>gaC	p.D125D	TM2D2_ENST00000397070.2_Silent_p.D82D|TM2D2_ENST00000522434.1_5'UTR|TM2D2_ENST00000456845.2_Silent_p.D82D|TM2D2_ENST00000412303.1_Silent_p.D82D	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	125						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ACTCAATTCCATCTAAGGCAT	0.463																																							0											0													93	82	86					8																	38851120		2203	4300	6503	SO:0001819	synonymous_variant	0			AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.375T>C	8.37:g.38851120A>G			B2RBK4|D3DSX8|Q8N0X9	Silent	SNP	pfam_TM2	p.D125	ENST00000456397.2	37	c.375	CCDS6111.1	8																																																																																			0	NULL		0.463	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM2D2	protein_coding	OTTHUMT00000377280.1	55	211	0	0.00	0	0	A	NM_031940	0	0		38851120	-1	no_errors	ENST00000456397	ensembl	human	known	74_37	silent	44	198	8.33	4.35	4	9	SNP	0.992	G	G	38851120	A	G	38851120	2	3	55	1	0	0	0	0	0	0	0	1	15961	214	8	3		3	TM2D2	8	38851120	Silent	SNP	A	TCGA-XM-A8RB-01A-11D-A423-09		38851120	107512902	4	587											
DUSP8	1850	genome.wustl.edu	37	chr11	1577829	1577829	+	Frame_Shift_Del	DEL	C	C	-																															agctcctcgccgcgcgcgcgCccctccaccatgccctcctc																										TCGA-XM-A8RB-01A-11D-A423-09	TCGA-XM-A8RB-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76cf206c-4bc4-46dd-9d15-7815935d06c1	828c110b-3dca-4d76-b653-9b866ee24646	g.chr11:1577829delC	ENST00000397374.3	-	7	1924	c.1797delG	c.(1795-1797)gggfs	p.G599fs	DUSP8_ENST00000528778.1_5'Flank|DUSP8_ENST00000331588.4_Frame_Shift_Del_p.G599fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	599					inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|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)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CGCGCGCGCGCCCCTCCACCA	0.746																																							0											0													2	3	3					11																	1577829		1586	3192	4778	SO:0001589	frameshift_variant	0				CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.1797delG	11.37:g.1577829delC	ENSP00000380530:p.Gly599fs		Q86SS8	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,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.R600fs	ENST00000397374.3	37	c.1797	CCDS7724.1	11																																																																																			0	NULL		0.746	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP8	protein_coding	OTTHUMT00000257178.3	71	9	0	0.00	0	0	C	NM_004420	0	0		1577829	-1	no_errors	ENST00000331588	ensembl	human	known	74_37	frame_shift_del	24	9	7.69	0.00	2	0	DEL	0.998	0	-	1577829	C	-	1577829	7	5	55	1	0	1	0	1	0	0	0	0	4831	726	26	0	84	0	DUSP8	11	1577829	Frame_Shift_Del	DEL	C	TCGA-XM-A8RB-01A-11D-A423-09		1577829	133428687	5	588											
EPS15	2060	genome.wustl.edu	37	chr1	51929355	51929355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcttactcttccaaggAtatccacaggtaacttagag	14	12	6	9	0	2	1	0	0	2	1	4	2	4	2	2	2	2	1	2	2	7	6			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr1:51929355A>G	ENST00000371733.3	-	7	587	c.491T>C	c.(490-492)aTc>aCc	p.I164T	EPS15_ENST00000371730.2_Missense_Mutation_p.I164T|RP11-253A20.1_ENST00000424246.1_RNA	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	164	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TCTTCCAAGGATATCCACAGG	0.303			T	MLL	ALL																																		0		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											65	63	64					1																	51929355		2203	4299	6502	SO:0001583	missense	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.491T>C	1.37:g.51929355A>G	ENSP00000360798:p.Ile164Thr		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.I164T	ENST00000371733.3	37	c.491	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240797	0.39598	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000371727	T;T	0.28255	1.62;1.62	3.77	3.77	0.43336	EPS15 homology (EH) (2);EF-hand-like domain (1);	.	.	.	.	T	0.18425	0.0442	N	0.04787	-0.16	0.80722	D	1	P;P	0.44429	0.826;0.835	B;P	0.45794	0.446;0.493	T	0.04946	-1.0916	9	0.19147	T	0.46	.	12.43	0.55569	1.0:0.0:0.0:0.0	.	164;164	B1AUU8;P42566	.;EPS15_HUMAN	T	164	ENSP00000360795:I164T;ENSP00000360798:I164T	ENSP00000360792:I164T	I	-	2	0	EPS15	51701943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.865000	0.75500	1.947000	0.56498	0.533000	0.62120	ATC	0	smart_EPS15_homology,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology		0.303	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	protein_coding	OTTHUMT00000022422.1	187	217	0	0.00	0	0	A	NM_001981	0	0		51929355	-1	no_errors	ENST00000371733	ensembl	human	known	74_37	missense	138	220	8	6.38	12	15	SNP	1	G	G	51929355	A	G	51929355	3	3	56	1	0	0	0	0	1	0	0	0	5192	333	12	3	2373	3	EPS15	1	51929355	Missense_Mutation	SNP	A	TCGA-XM-A8RC-01A-11D-A423-09		51929355	197321266	1	589											
LMX1A	4009	genome.wustl.edu	37	chr1	165218733	165218733	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcagctgcccctccttcagGacaaactcatcacccttctg	9	9	6	17	0	4	0	3	0	1	0	5	1	5	1	4	1	4	2	4	1	1	2			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr1:165218733G>A	ENST00000342310.3	-	4	790	c.408C>T	c.(406-408)gtC>gtT	p.V136V	LMX1A_ENST00000367893.4_Silent_p.V136V|LMX1A_ENST00000294816.2_Silent_p.V136V	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	136	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)					CCTCCTTCAGGACAAACTCAT	0.577																																							0											0													80	76	78					1																	165218733		2203	4300	6503	SO:0001819	synonymous_variant	0			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.408C>T	1.37:g.165218733G>A			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.V136	ENST00000342310.3	37	c.408	CCDS1247.1	1																																																																																			0	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.577	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMX1A	protein_coding	OTTHUMT00000083668.2	43	54	0	0.00	0	0	G	NM_177398	0	0		165218733	-1	no_errors	ENST00000294816	ensembl	human	known	74_37	silent	38	86	9.52	18.10	4	19	SNP	0.988	A	A	165218733	G	A	165218733	2	1	56	1	0	0	0	0	0	0	0	1	8861	1161	41	3		3	LMX1A	1	165218733	Silent	SNP	G	TCGA-XM-A8RC-01A-11D-A423-09	113289378	165218733	84031888	2	590											
DSTYK	25778	genome.wustl.edu	37	chr1	205180465	205180465	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgccgccgcccgtgaGggaggagagacaagtgtggt	7	4	18	12	4	0	2	0	1	0	1	0	5	0	4	5	4	0	0	5	4	1	0	rs543550172		TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr1:205180465G>C	ENST00000367162.3	-	1	229	c.199C>G	c.(199-201)Ctc>Gtc	p.L67V	DSTYK_ENST00000367160.4_Missense_Mutation_p.L67V|DSTYK_ENST00000367161.3_Missense_Mutation_p.L67V	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	67					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	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(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ccgcccgTGAGGGAGGAGAGA	0.692																																							0											0													24	23	23					1																	205180465		2203	4299	6502	SO:0001583	missense	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.199C>G	1.37:g.205180465G>C	ENSP00000356130:p.Leu67Val		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	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.L67V	ENST00000367162.3	37	c.199	CCDS1451.1	1	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.150743	0.01700	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.77877	-0.64;-1.05;-1.13	4.42	3.49	0.39957	.	0.799129	0.11144	N	0.594874	T	0.52917	0.1764	N	0.08118	0	0.18873	N	0.999989	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.004	T	0.41592	-0.9500	10	0.02654	T	1	-1.3466	7.4255	0.27096	0.0934:0.172:0.7346:0.0	.	67;67	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	V	67	ENSP00000356128:L67V;ENSP00000356129:L67V;ENSP00000356130:L67V	ENSP00000356128:L67V	L	-	1	0	DSTYK	203447088	0.973000	0.33851	0.968000	0.41197	0.267000	0.26476	1.572000	0.36461	1.061000	0.40601	0.561000	0.74099	CTC	0	NULL		0.692	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	protein_coding	OTTHUMT00000090345.1	83	75	0	0.00	0	0	G	NM_015375	0	0		205180465	-1	no_errors	ENST00000367162	ensembl	human	known	74_37	missense	95	111	10.38	5.93	11	7	SNP	0.937	C	C	205180465	G	C	205180465	3	2	56	1	0	0	0	0	1	0	0	0	4785	1000	35	5	2642	5	DSTYK	1	205180465	Missense_Mutation	SNP	G	TCGA-XM-A8RC-01A-11D-A423-09	39961732	205180465	44070156	3	591											
FSIP2	401024	genome.wustl.edu	37	chr2	186665769	186665769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctatgatagtaattctttGacagtatccctgaataatcc	13	14	6	8	0	1	3	0	3	1	0	3	3	3	3	2	0	1	3	2	0	6	7			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr2:186665769G>A	ENST00000424728.1	+	17	11736	c.11736G>A	c.(11734-11736)ttG>ttA	p.L3912L	AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Silent_p.L4001L|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3912										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTAATTCTTTGACAGTATCCC	0.343																																							0											0																																										SO:0001819	synonymous_variant	0			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.11736G>A	2.37:g.186665769G>A			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.L4001	ENST00000424728.1	37	c.12003		2																																																																																			0	NULL		0.343	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	48	181	0	0.00	0	0	G	NM_173651	0	0		186665769	1	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	34	192	12.82	10.28	5	22	SNP	0	A	A	186665769	G	A	186665769	2	1	56	1	0	0	0	0	0	0	0	1	6075	1281	45	3		3	FSIP2	2	186665769	Silent	SNP	G	TCGA-XM-A8RC-01A-11D-A423-09		186665769	56533604	4	592											
C3orf63	285331	genome.wustl.edu	37	chr3	56657536	56657536	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catacttctatatgtgagatTtcatcccctgaatccagaga	12	13	6	10	0	2	3	1	2	1	2	4	5	4	3	3	0	1	0	3	0	4	5			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr3:56657536T>C	ENST00000394672.3	+	0	3096				FAM208A_ENST00000355628.5_Silent_p.E1453E|FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000431842.2_Silent_p.E1077E|FAM208A_ENST00000485156.1_5'UTR	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						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)		TATGTGAGATTTCATCCCCTG	0.343																																							0											0													130	134	133					3																	56657536		2203	4300	6503	SO:0001628	intergenic_variant	0			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		3.37:g.56657536T>C			B3KWL8|Q4VC34|Q8N949	Silent	SNP	pfam_DUF3715	p.E1453	ENST00000394672.3	37	c.4359	CCDS46852.1	3																																																																																			0	NULL		0.343	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM208A	protein_coding	OTTHUMT00000341473.1	31	218	0	0.00	0	0	T	NM_001012506	0	0		56657536	-1	no_errors	ENST00000355628	ensembl	human	known	74_37	silent	37	234	13.64	9.30	6	24	SNP	1	C	C	56657536	T	C	56657536	1	2	56	0	1	0	0	0	0	0	0	0	2239	1838	64	3		3	C3orf63	3	56657536	IGR	SNP	T	TCGA-XM-A8RC-01A-11D-A423-09		56657536	141364894	5	593											
C3orf26	84319	genome.wustl.edu	37	chr3	99886630	99886630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaccacagtgagaagaaatCggtcctgatgctgatcatct	13	9	10	9	1	2	4	1	3	1	2	4	6	3	4	2	1	2	1	2	1	3	0			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr3:99886630C>T	ENST00000421999.2	+	6	610	c.464C>T	c.(463-465)tCg>tTg	p.S155L	CMSS1_ENST00000489081.1_Missense_Mutation_p.S137L	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	155							poly(A) RNA binding (GO:0044822)										GAGAAGAAATCGGTCCTGATG	0.418																																							0											0													174	180	178					3																	99886630		2203	4300	6503	SO:0001583	missense	0				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.464C>T	3.37:g.99886630C>T	ENSP00000410396:p.Ser155Leu		A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase	p.S155L	ENST00000421999.2	37	c.464	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	C	30	5.051385	0.93740	.	.	ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909	T;T;T	0.35789	1.29;1.29;1.29	5.62	5.62	0.85841	DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.116646	0.64402	D	0.000011	T	0.58722	0.2142	M	0.65320	2	0.54753	D	0.999987	D	0.89917	1.0	D	0.81914	0.995	T	0.54886	-0.8226	9	.	.	.	.	18.2327	0.89939	0.0:1.0:0.0:0.0	.	155	Q9BQ75	CC026_HUMAN	L	155;137;111	ENSP00000410396:S155L;ENSP00000419161:S137L;ENSP00000417293:S111L	.	S	+	2	0	C3orf26	101369320	1.000000	0.71417	0.937000	0.37676	0.954000	0.61252	6.502000	0.73695	2.642000	0.89623	0.655000	0.94253	TCG	0	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase		0.418	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	protein_coding	OTTHUMT00000353060.1	70	173	0	0.00	0	0	C	NM_032359	0	0		99886630	1	no_errors	ENST00000421999	ensembl	human	known	74_37	missense	60	157	14.29	7.06	10	12	SNP	0.996	T	T	99886630	C	T	99886630	3	4	56	1	0	0	0	0	1	0	0	0	2218	893	31	2	500	2	C3orf26	3	99886630	Missense_Mutation	SNP	C	TCGA-XM-A8RC-01A-11D-A423-09	43229094	99886630	98135800	6	594											
TDO2	6999	genome.wustl.edu	37	chr4	156830136	156830136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttttccattctggagaCgatgacagccttggacttca	9	12	10	10	1	2	2	1	1	1	1	3	5	3	3	2	2	1	2	2	2	0	5			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr4:156830136C>T	ENST00000536354.2	+	5	465	c.401C>T	c.(400-402)aCg>aTg	p.T134M		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)		ATTCTGGAGACGATGACAGCC	0.438																																					Colon(57;928 1036 2595 6946 26094)		0											0													98	86	90					4																	156830136		2203	4300	6503	SO:0001583	missense	0				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.401C>T	4.37:g.156830136C>T	ENSP00000444788:p.Thr134Met			Missense_Mutation	SNP	pfam_Trp_2_3_dOase	p.T134M	ENST00000536354.2	37	c.401	CCDS34086.1	4	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808052	0.70797	.	.	ENSG00000151790	ENST00000506072;ENST00000507590;ENST00000536354	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92459	0.5976	9	0.87932	D	0	-16.8798	19.9103	0.97024	0.0:1.0:0.0:0.0	.	134	P48775	T23O_HUMAN	M	27;27;134	.	ENSP00000281525:T134M	T	+	2	0	TDO2	157049586	1.000000	0.71417	0.864000	0.33941	0.329000	0.28539	7.417000	0.80156	2.765000	0.95021	0.650000	0.86243	ACG	0	pfam_Trp_2_3_dOase		0.438	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDO2	protein_coding	OTTHUMT00000366209.3	79	135	0	0.00	0	0	C	NM_005651	0	0		156830136	1	no_errors	ENST00000536354	ensembl	human	known	74_37	missense	62	112	8.82	6.61	6	8	SNP	1	T	T	156830136	C	T	156830136	3	4	56	1	0	0	0	0	1	0	0	0	15724	536	19	1	419	1	TDO2	4	156830136	Missense_Mutation	SNP	C	TCGA-XM-A8RC-01A-11D-A423-09		156830136	34324140	7	595											
ACSL1	2180	genome.wustl.edu	37	chr4	185678349	185678349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagctctggccttttcGccttcattgttggagtcaga	5	14	10	12	2	3	1	2	0	1	1	5	2	4	2	3	2	1	3	3	2	0	5			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr4:185678349G>A	ENST00000515030.1	-	21	2352	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	ACSL1_ENST00000281455.2_Missense_Mutation_p.A676V|ACSL1_ENST00000437665.3_Missense_Mutation_p.A505V|ACSL1_ENST00000507295.1_Missense_Mutation_p.A642V|ACSL1_ENST00000504342.1_Missense_Mutation_p.A676V|ACSL1_ENST00000513317.1_Missense_Mutation_p.A676V|ACSL1_ENST00000454703.2_Missense_Mutation_p.A505V			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	676					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGGCCTTTTCGCCTTCATTGT	0.438																																							0											0													109	106	107					4																	185678349		2203	4300	6503	SO:0001583	missense	0			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.2027C>T	4.37:g.185678349G>A	ENSP00000422607:p.Ala676Val		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A676V	ENST00000515030.1	37	c.2027	CCDS3839.1	4	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359477	0.61403	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1	6.06	6.06	0.98353	.	0.089268	0.85682	D	0.000000	T	0.10121	0.0248	L	0.46885	1.475	0.80722	D	1	B;P;P;P	0.38617	0.193;0.507;0.507;0.64	B;B;B;B	0.31686	0.007;0.1;0.063;0.134	T	0.13229	-1.0517	10	0.30078	T	0.28	-15.7132	20.6282	0.99521	0.0:0.0:1.0:0.0	.	642;676;676;666	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	V	505;676;272;676;642;505;676;676	ENSP00000407165:A505V;ENSP00000422607:A676V;ENSP00000425098:A272V;ENSP00000281455:A676V;ENSP00000426244:A642V;ENSP00000405687:A505V;ENSP00000425006:A676V;ENSP00000426150:A676V	ENSP00000281455:A676V	A	-	2	0	ACSL1	185915343	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	6.666000	0.74446	2.871000	0.98454	0.655000	0.94253	GCG	0	NULL		0.438	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	protein_coding	OTTHUMT00000361112.2	52	161	0	0.00	0	0	G	NM_001995	0	0		185678349	-1	no_errors	ENST00000281455	ensembl	human	known	74_37	missense	38	160	11.36	4.19	5	7	SNP	0.998	A	A	185678349	G	A	185678349	3	1	56	1	0	0	0	0	1	0	0	0	177	1087	38	1	73	1	ACSL1	4	185678349	Missense_Mutation	SNP	G	TCGA-XM-A8RC-01A-11D-A423-09	28848213	185678349	5475927	8	596											
KCNQ5	56479	genome.wustl.edu	37	chr6	73879514	73879514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatatgatgaaaaaggatGccagtgtgatgtatcagtgg	13	12	13	3	0	1	3	1	3	0	0	1	4	1	4	1	2	1	2	1	2	5	3			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr6:73879514G>A	ENST00000370398.1	+	11	1623	c.1514G>A	c.(1513-1515)tGc>tAc	p.C505Y	KCNQ5_ENST00000342056.2_Missense_Mutation_p.C524Y|KCNQ5_ENST00000402622.2_Missense_Mutation_p.C515Y|KCNQ5_ENST00000355635.3_Missense_Mutation_p.C506Y|KCNQ5_ENST00000403813.2_Missense_Mutation_p.C496Y|KCNQ5_ENST00000355194.4_Missense_Mutation_p.C505Y|KCNQ5_ENST00000414165.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	505					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)	GAAAAAGGATGCCAGTGTGAT	0.423																																					GBM(142;1375 1859 14391 23261 44706)		0											0													173	138	150					6																	73879514		2203	4300	6503	SO:0001583	missense	0			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.1514G>A	6.37:g.73879514G>A	ENSP00000359425:p.Cys505Tyr		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.C515Y	ENST00000370398.1	37	c.1544	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280730	0.40294	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813	D;D;D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28;-6.28;-6.28	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	L	0.38953	1.18	0.80722	D	1	B;B;B;B	0.28400	0.141;0.21;0.068;0.171	B;B;B;B	0.37091	0.155;0.173;0.108;0.241	D	0.99895	1.1145	10	0.02654	T	1	.	19.295	0.94118	0.0:0.0:1.0:0.0	.	515;524;496;505	Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;KCNQ5_HUMAN	Y	524;524;505;505;515;506;496	ENSP00000345055:C524Y;ENSP00000347326:C505Y;ENSP00000359425:C505Y;ENSP00000385501:C515Y;ENSP00000347853:C506Y;ENSP00000384453:C496Y	ENSP00000345055:C524Y	C	+	2	0	KCNQ5	73936235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.730000	0.84881	2.726000	0.93360	0.655000	0.94253	TGC	0	pfam_K_chnl_volt-dep_KCNQ_C		0.423	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	protein_coding	OTTHUMT00000041198.3	95	234	0	0.00	0	0	G	NM_019842	0	0		73879514	1	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	115	196	10.85	10.50	14	23	SNP	1	A	A	73879514	G	A	73879514	3	1	56	1	0	0	0	0	1	0	0	0	8086	1319	46	3	1617	3	KCNQ5	6	73879514	Missense_Mutation	SNP	G	TCGA-XM-A8RC-01A-11D-A423-09		73879514	97235553	9	597											
LEP	3952	genome.wustl.edu	37	chr7	127892159	127892159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccaaaaagtccaagatGacaccaaaaccctcatcaag	18	5	4	14	0	2	2	2	1	0	1	4	2	4	2	5	0	1	0	5	0	6	0			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr7:127892159G>T	ENST00000308868.4	+	2	139	c.88G>T	c.(88-90)Gac>Tac	p.D30Y		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	30					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						AGTCCAAGATGACACCAAAAC	0.488																																							0											0													264	235	244					7																	127892159		2203	4300	6503	SO:0001583	missense	0				CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"leptin (murine obesity homolog)", "leptin (obesity homolog, mouse)"	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.88G>T	7.37:g.127892159G>T	ENSP00000312652:p.Asp30Tyr		O15158|Q56A88	Missense_Mutation	SNP	pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin	p.D30Y	ENST00000308868.4	37	c.88	CCDS5800.1	7	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697336	0.48202	.	.	ENSG00000174697	ENST00000308868	T	0.77620	-1.11	4.96	4.96	0.65561	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.64402	D	0.000014	D	0.87406	0.6169	M	0.78049	2.395	0.46298	D	0.998973	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88914	0.3361	10	0.87932	D	0	-28.0029	13.7105	0.62665	0.0:0.0:1.0:0.0	.	30;30	A4D0Y8;P41159	.;LEP_HUMAN	Y	30	ENSP00000312652:D30Y	ENSP00000312652:D30Y	D	+	1	0	LEP	127679395	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	4.760000	0.62235	2.309000	0.77851	0.655000	0.94253	GAC	0	pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin		0.488	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEP	protein_coding	OTTHUMT00000349174.1	65	184	0	0.00	0	0	G		0	0		127892159	1	no_errors	ENST00000308868	ensembl	human	known	74_37	missense	62	287	7.46	4.32	5	13	SNP	1	T	T	127892159	G	T	127892159	3	4	56	1	0	0	0	0	1	0	0	0	8727	1290	45	5	90	5	LEP	7	127892159	Missense_Mutation	SNP	G	TCGA-XM-A8RC-01A-11D-A423-09		127892159	31246504	10	598											
NCOA2	10499	genome.wustl.edu	37	chr8	71068207	71068207	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgtgataaaacttaccTggtcaccaggctcaaagctc	14	9	8	10	0	2	2	2	1	0	1	3	2	2	2	2	2	3	2	2	2	5	2			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr8:71068207T>G	ENST00000452400.2	-	11	2574	c.2393A>C	c.(2392-2394)cAg>cCg	p.Q798P	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	798					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	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)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AAAACTTACCTGGTCACCAGG	0.403			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																		0		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													52	51	52					8																	71068207		1868	4114	5982	SO:0001630	splice_region_variant	0			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2394+1A>C	8.37:g.71068207T>G			Q14CD2	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.Q798P	ENST00000452400.2	37	c.2393	CCDS47872.1	8	.	.	.	.	.	.	.	.	.	.	T	12.43	1.934404	0.34096	.	.	ENSG00000140396	ENST00000452400	T	0.01963	4.53	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.03608	0.0103	L	0.39245	1.2	0.80722	D	1	B	0.22800	0.075	B	0.23419	0.046	T	0.46871	-0.9160	10	0.87932	D	0	.	16.1429	0.81539	0.0:0.0:0.0:1.0	.	798	Q15596	NCOA2_HUMAN	P	798	ENSP00000399968:Q798P	ENSP00000399968:Q798P	Q	-	2	0	NCOA2	71230761	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.431000	0.66507	2.209000	0.71365	0.460000	0.39030	CAG	0	pirsf_Nuclear_rcpt_coactivator		0.403	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	protein_coding	OTTHUMT00000379696.1	35	225	0	0.00	0	0	T		0	0	Missense_Mutation	71068207	-1	no_errors	ENST00000452400	ensembl	human	known	74_37	missense	52	238	18.75	17.30	12	50	SNP	1	G	G	71068207	T	G	71068207	5	3	56	1	0	0	0	0	0	0	1	0	10229	1594	55	5	2053	5	NCOA2	8	71068207	Splice_Site	SNP	T	TCGA-XM-A8RC-01A-11D-A423-09		71068207	75295815	11	599											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100092960	100092960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagaggaggaagatgagAaggaggaagaggaggaggag	17	2	21	1	0	1	4	1	1	0	4	1	12	1	11	0	7	0	0	0	7	3	0			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr9:100092960A>G	ENST00000357054.1	+	32	3669	c.2734A>G	c.(2734-2736)Aag>Gag	p.K912E	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.K773E|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.K770E|CCDC180_ENST00000375202.2_Missense_Mutation_p.K773E			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	912	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ggaagatgagaaggaggaaga	0.507																																							0											0													49	56	54					9																	100092960		2203	4298	6501	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2734A>G	9.37:g.100092960A>G	ENSP00000349562:p.Lys912Glu		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.K773E	ENST00000357054.1	37	c.2317		9	.	.	.	.	.	.	.	.	.	.	A	9.191	1.026083	0.19512	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.08193	3.58;3.12;3.58;3.12	4.3	-0.108	0.13588	.	1.436920	0.03940	N	0.286782	T	0.02688	0.0081	N	0.02539	-0.55	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	0.001;0.001;0.001;0.001;0.001	T	0.36890	-0.9729	10	0.02654	T	1	-3.3204	3.0393	0.06133	0.2633:0.0:0.5615:0.1752	.	796;770;912;773;912	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	E	912;773;770;796;773	ENSP00000349562:K912E;ENSP00000364348:K773E;ENSP00000414000:K770E;ENSP00000434727:K773E	ENSP00000349562:K912E	K	+	1	0	C9orf174	99132781	0.000000	0.05858	0.001000	0.08648	0.299000	0.27559	-0.850000	0.04317	0.225000	0.20959	0.454000	0.30748	AAG	0	NULL		0.507	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	protein_coding		34	18	0	0.00	0	0	A	NM_020893	0	0		100092960	1	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	49	9	7.55	0.00	4	0	SNP	0	G	G	100092960	A	G	100092960	3	3	56	1	0	0	0	0	1	0	0	0	8240	247	9	3	2816	3	KIAA1529	9	100092960	Missense_Mutation	SNP	A	TCGA-XM-A8RC-01A-11D-A423-09		100092960	41120471	12	600											
GPRIN2	9721	genome.wustl.edu	37	chr10	46999615	46999615	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaggtgagggctggtggCtgctgccatgccctacctgc	5	8	17	11	0	0	1	0	1	0	0	0	2	0	2	3	5	5	3	3	5	1	1	rs200454713		TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr10:46999615C>G	ENST00000374317.1	+	3	1008	c.735C>G	c.(733-735)ggC>ggG	p.G245G	GPRIN2_ENST00000374314.4_Silent_p.G245G	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	245										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGGCTGGTGGCTGCTGCCATG	0.622																																							0											0													58	62	61					10																	46999615		2203	4300	6503	SO:0001819	synonymous_variant	0			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.735C>G	10.37:g.46999615C>G			Q5SVF0	Silent	SNP	NULL	p.G245	ENST00000374317.1	37	c.735	CCDS31192.1	10																																																																																			0	NULL		0.622	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	protein_coding	OTTHUMT00000047836.1	36	55	0	0.00	0	0	C	NM_014696	0	0		46999615	1	no_errors	ENST00000374314	ensembl	human	known	74_37	silent	28	63	15.15	4.55	5	3	SNP	0.023	G	G	46999615	C	G	46999615	2	3	56	1	0	0	0	0	0	0	0	1	6730	784	28	5		5	GPRIN2	10	46999615	Silent	SNP	C	TCGA-XM-A8RC-01A-11D-A423-09		46999615	88535132	13	601											
DCLRE1A	9937	genome.wustl.edu	37	chr10	115609247	115609247	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattatacttaagaccagaAggcaatattttcaaatactt	16	13	5	7	0	1	2	1	0	0	2	1	2	1	2	1	1	2	2	1	1	8	8			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr10:115609247A>C	ENST00000361384.2	-	2	2534	c.1617T>G	c.(1615-1617)ccT>ccG	p.P539P	DCLRE1A_ENST00000369305.1_Silent_p.P539P	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	539	Nuclear focus formation.				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)		TAAGACCAGAAGGCAATATTT	0.383								Other identified genes with known or suspected DNA repair function																															0											0													126	128	128					10																	115609247		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1617T>G	10.37:g.115609247A>C			D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	pfam_DRMBL	p.P539	ENST00000361384.2	37	c.1617	CCDS7584.1	10																																																																																			0	NULL		0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	protein_coding	OTTHUMT00000050444.1	71	202	0	0.00	0	0	A	NM_014881	0	0		115609247	-1	no_errors	ENST00000361384	ensembl	human	known	74_37	silent	49	252	12.5	12.50	7	36	SNP	0.004	C	C	115609247	A	C	115609247	2	2	56	1	0	0	0	0	0	0	0	1	4294	59	3	5		5	DCLRE1A	10	115609247	Silent	SNP	A	TCGA-XM-A8RC-01A-11D-A423-09	68609632	115609247	19925500	14	602											
LDHC	3948	genome.wustl.edu	37	chr11	18451288	18451288	+	Frame_Shift_Del	DEL	C	C	-																															tttgtttcctttttagattaCagtgtatctgcaaactccag																										TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr11:18451288delC	ENST00000541669.1	+	4	360	c.249delC	c.(247-249)tacfs	p.Y83fs	LDHC_ENST00000280704.4_Frame_Shift_Del_p.Y83fs|LDHC_ENST00000536880.1_Intron|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000544105.1_Frame_Shift_Del_p.Y83fs|LDHC_ENST00000535809.1_Frame_Shift_Del_p.Y83fs|LDHC_ENST00000537486.1_Frame_Shift_Del_p.Y83fs			P07864	LDHC_HUMAN	lactate dehydrogenase C	83					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTTAGATTACAGTGTATCTG	0.383																																							0											0													69	60	63					11																	18451288		2199	4293	6492	SO:0001589	frameshift_variant	0			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"cancer/testis antigen 32"	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.249delC	11.37:g.18451288delC	ENSP00000437783:p.Tyr83fs		D3DQY4|Q6GSG8|Q7Z7J4	Frame_Shift_Del	DEL	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.Y83fs	ENST00000541669.1	37	c.249	CCDS7840.1	11																																																																																			0	pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.383	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHC	protein_coding	OTTHUMT00000395892.1	87	213	0	0.00	0	0	C	NM_017448	0	0		18451288	1	no_errors	ENST00000280704	ensembl	human	known	74_37	frame_shift_del	63	209	10	9.91	7	23	DEL	0.057	0	-	18451288	C	-	18451288	7	5	56	1	0	1	0	1	0	0	0	0	8702	489	17	0	259	0	LDHC	11	18451288	Frame_Shift_Del	DEL	C	TCGA-XM-A8RC-01A-11D-A423-09		18451288	116555228	15	603											
RAPGEF3	10411	genome.wustl.edu	37	chr12	48144924	48144924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcctccatctcatgagttCtcacgggctcgggctcgggc	4	10	11	16	3	2	1	2	1	2	0	8	1	4	1	3	3	0	3	3	3	0	1			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr12:48144924C>T	ENST00000449771.2	-	6	666	c.578G>A	c.(577-579)aGa>aAa	p.R193K	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.R193K|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.R151K|RAPGEF3_ENST00000549347.1_5'Flank|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.R151K|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.R151K|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.R151K|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.R193K			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	193			R -> G (in dbSNP:rs2016123). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9853756, ECO:0000269|PubMed:9856955, ECO:0000269|Ref.4}.		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)			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)		CTCATGAGTTCTCACGGGCTC	0.662																																							0											0													17	19	18					12																	48144924		2192	4268	6460	SO:0001583	missense	0			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.578G>A	12.37:g.48144924C>T	ENSP00000395708:p.Arg193Lys		A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	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.R193K	ENST00000449771.2	37	c.578	CCDS41775.1	12	.	.	.	.	.	.	.	.	.	.	C	1.273	-0.612602	0.03690	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358;ENST00000466322	T;T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59	4.97	3.12	0.35913	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.139612	0.32640	N	0.005835	T	0.05090	0.0136	N	0.08118	0	0.24406	N	0.994683	B;B	0.09022	0.002;0.001	B;B	0.08055	0.001;0.003	T	0.40924	-0.9537	10	0.09590	T	0.72	.	5.4234	0.16413	0.1616:0.6675:0.0:0.1709	.	193;193	O95398-2;O95398	.;RPGF3_HUMAN	K	151;193;151;151;151;193;205;151;193;151	ENSP00000384521:R151K;ENSP00000395708:R193K;ENSP00000448619:R151K;ENSP00000171000:R151K;ENSP00000373864:R193K;ENSP00000448480:R151K;ENSP00000378764:R193K;ENSP00000446731:R151K	ENSP00000171000:R151K	R	-	2	0	RAPGEF3	46431191	0.001000	0.12720	0.003000	0.11579	0.114000	0.19823	0.616000	0.24344	1.239000	0.43787	-0.254000	0.11334	AGA	0	NULL		0.662	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	protein_coding	OTTHUMT00000257848.1	42	48	0	0.00	0	0	C	NM_006105	0	0		48144924	-1	no_errors	ENST00000389212	ensembl	human	known	74_37	missense	48	58	7.69	13.43	4	9	SNP	0.008	T	T	48144924	C	T	48144924	3	4	56	1	0	0	0	0	1	0	0	0	13045	913	32	3	2285	3	RAPGEF3	12	48144924	Missense_Mutation	SNP	C	TCGA-XM-A8RC-01A-11D-A423-09		48144924	85706971	16	604											
RAB27A	5873	genome.wustl.edu	37	chr15	55522664	55522664	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgccagtggctccatcCggcccactggctctgtacac	5	9	9	18	1	2	0	0	0	2	0	4	0	4	0	5	3	2	3	5	3	1	1			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr15:55522664C>A	ENST00000396307.2	-	3	425	c.174G>T	c.(172-174)ccG>ccT	p.P58P	RAB27A_ENST00000564609.1_Silent_p.P58P|RAB27A_ENST00000569493.1_Silent_p.P58P|RAB27A_ENST00000336787.1_Silent_p.P58P	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	58					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)		TGGCTCCATCCGGCCCACTGG	0.478																																							0											0													76	76	76					15																	55522664		2193	4292	6485	SO:0001819	synonymous_variant	0			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.174G>T	15.37:g.55522664C>A			O00195|Q6FI40|Q9UIR9|Q9Y5U3	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_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P58	ENST00000396307.2	37	c.174	CCDS10153.1	15																																																																																			0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.478	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB27A	protein_coding	OTTHUMT00000254918.1	58	110	0	0.00	0	0	C	NM_004580, NM_183236	0	0		55522664	-1	no_errors	ENST00000336787	ensembl	human	known	74_37	silent	34	122	19.05	14.08	8	20	SNP	0.038	A	A	55522664	C	A	55522664	2	1	56	1	0	0	0	0	0	0	0	1	12914	639	23	5		5	RAB27A	15	55522664	Silent	SNP	C	TCGA-XM-A8RC-01A-11D-A423-09		55522664	47008728	17	605											
IGDCC4	57722	genome.wustl.edu	37	chr15	65678319	65678319	+	Frame_Shift_Del	DEL	G	G	-																															tcatgggcagctggggggctGggggggccaagccgagctct																										TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr15:65678319delG	ENST00000352385.2	-	18	3239	c.3030delC	c.(3028-3030)cccfs	p.P1010fs	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1010						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTGGGGGGCTGGGGGGGCCAA	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0										27,3789		4,19,1885	8	10	10			3.7	0.2	15		10	69,7555		22,25,3765	no	frameshift	IGDCC4	NM_020962.1		26,44,5650	A1A1,A1R,RR		0.905,0.7075,0.8392			65678319	96,11344	2052	4102	6154	SO:0001589	frameshift_variant	0				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3030delC	15.37:g.65678319delG	ENSP00000319623:p.Pro1010fs	1086	Q9HCE4	Frame_Shift_Del	DEL	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.S1011fs	ENST00000352385.2	37	c.3030	CCDS10206.1	15																																																																																			0	NULL		0.662	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	protein_coding	OTTHUMT00000256825.2	26	3	0	0.00	0	0	G	NM_020962	0	0		65678319	-1	no_errors	ENST00000352385	ensembl	human	novel	74_37	frame_shift_del	22	9	18.52	0.00	5	0	DEL	0.001	0	-	65678319	G	-	65678319	7	5	56	1	0	1	0	1	0	0	0	0	7569	1335	47	0	734	0	IGDCC4	15	65678319	Frame_Shift_Del	DEL	G	TCGA-XM-A8RC-01A-11D-A423-09	10155655	65678319	36853073	18	606											
TBC1D2B	23102	genome.wustl.edu	37	chr15	78316874	78316874	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtctgctggagcagtcgaAcaagctcctgggagccaaaa	11	7	12	11	1	1	0	0	0	1	0	3	3	2	2	2	2	5	3	2	2	4	0			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr15:78316874A>C	ENST00000300584.3	-	6	1093	c.1094T>G	c.(1093-1095)gTt>gGt	p.V365G	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.V365G	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	365							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						GAGCAGTCGAACAAGCTCCTG	0.512																																							0											0													38	42	41					15																	78316874		2195	4293	6488	SO:0001583	missense	0			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.1094T>G	15.37:g.78316874A>C	ENSP00000300584:p.Val365Gly		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	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.V365G	ENST00000300584.3	37	c.1094	CCDS45314.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.582130|4.582130	0.86748|0.86748	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584;ENST00000435468	.|T;T	.|0.13657	.|2.58;2.57	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.060318	.|0.64402	.|D	.|0.000003	T|T	0.36110|0.36110	0.0955|0.0955	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;P	.|0.53885	.|0.963;0.938	.|P;P	.|0.58454	.|0.839;0.58	T|T	0.21655|0.21655	-1.0239|-1.0239	5|10	.|0.87932	.|D	.|0	.|.	14.8722|14.8722	0.70465|0.70465	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|365;365	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	V|G	247|365;365;253	.|ENSP00000387165:V365G;ENSP00000300584:V365G	.|ENSP00000300584:V365G	F|V	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76103929|76103929	1.000000|1.000000	0.71417|0.71417	0.715000|0.715000	0.30552|0.30552	0.984000|0.984000	0.73092|0.73092	6.976000|6.976000	0.76135|0.76135	2.102000|2.102000	0.63906|0.63906	0.402000|0.402000	0.26972|0.26972	TTC|GTT	0	NULL		0.512	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	protein_coding	OTTHUMT00000328369.3	18	98	0	0.00	0	0	A	NM_015079	0	0		78316874	-1	no_errors	ENST00000300584	ensembl	human	known	74_37	missense	20	111	16.67	5.13	4	6	SNP	0.99	C	C	78316874	A	C	78316874	3	2	56	1	0	0	0	0	1	0	0	0	15616	43	2	5	1829	5	TBC1D2B	15	78316874	Missense_Mutation	SNP	A	TCGA-XM-A8RC-01A-11D-A423-09	12638555	78316874	24214518	19	607											
RNF213	57674	genome.wustl.edu	37	chr17	78320135	78320135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagctgaatgcctttctctCcaagtccagcgtcagcaaaa	11	9	8	13	1	2	1	1	1	1	0	5	1	4	1	3	0	4	3	3	0	4	1			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr17:78320135C>G	ENST00000582970.1	+	29	8143	c.8000C>G	c.(7999-8001)tCc>tGc	p.S2667C	RNF213_ENST00000336301.6_Missense_Mutation_p.S740C|RNF213_ENST00000508628.2_Missense_Mutation_p.S2716C	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2667					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)			GCCTTTCTCTCCAAGTCCAGC	0.532																																							0											0													67	65	66					17																	78320135		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8000C>G	17.37:g.78320135C>G	ENSP00000464087:p.Ser2667Cys		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.S2667C	ENST00000582970.1	37	c.8000	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	0.578	-0.838152	0.02692	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24908	1.83	5.37	-5.08	0.02929	.	1.678060	0.02746	N	0.116879	T	0.11665	0.0284	N	0.01352	-0.895	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.35325	-0.9793	10	0.62326	D	0.03	.	15.7568	0.78037	0.1348:0.6489:0.2163:0.0	.	740	Q63HN8	RN213_HUMAN	C	2667;2716;740	ENSP00000338218:S740C	ENSP00000338218:S740C	S	+	2	0	RNF213	75934730	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.989000	0.03736	-0.668000	0.05296	-0.344000	0.07964	TCC	0	superfamily_P-loop_NTPase		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	23	48	0	0.00	0	0	C	NM_020914	0	0		78320135	1	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	32	52	11.11	10.34	4	6	SNP	0	G	G	78320135	C	G	78320135	3	3	56	1	0	0	0	0	1	0	0	0	13477	855	30	5	8429	5	RNF213	17	78320135	Missense_Mutation	SNP	C	TCGA-XM-A8RC-01A-11D-A423-09		78320135	2875075	20	608											
TUBB6	84617	genome.wustl.edu	37	chr18	12308715	12308715	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcagcgatgagcacggCatcgacccggccggaggcta	9	5	15	12	5	1	2	1	2	0	0	2	5	1	3	2	4	2	3	2	4	1	1	rs376972319		TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr18:12308715C>T	ENST00000317702.5	+	2	321	c.87C>T	c.(85-87)ggC>ggT	p.G29G	TUBB6_ENST00000591909.1_Silent_p.G29G|TUBB6_ENST00000586653.1_Silent_p.G29G|TUBB6_ENST00000592683.1_Silent_p.G29G|TUBB6_ENST00000591208.1_Silent_p.G29G|TUBB6_ENST00000590967.1_Silent_p.G29G			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	29					'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)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ATGAGCACGGCATCGACCCGG	0.652																																							0											0								C		0,4406		0,0,2203	62	63	63		87	-2	1	18		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TUBB6	NM_032525.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		29/447	12308715	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"Tubulins"	20776	protein-coding gene	gene with protein product	"tubulin beta MGC4083", "class V beta-tubulin"	615103	"tubulin, beta 6"			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.87C>T	18.37:g.12308715C>T			B3KM76|Q9HA42	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_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.G29	ENST00000317702.5	37	c.87	CCDS11858.1	18																																																																																			0	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Alpha_tubulin		0.652	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB6	protein_coding	OTTHUMT00000254600.2	102	74	0	0.00	0	0	C	NM_032525	rs376972319	C->T		12308715	1	no_errors	ENST00000317702	ensembl	human	known	74_37	silent	76	67	11.63	5.63	10	4	SNP	0.995	T	T	12308715	C	T	12308715	2	4	56	1	0	0	0	0	0	0	0	1	16757	697	25	3		3	TUBB6	18	12308715	Silent	SNP	C	TCGA-XM-A8RC-01A-11D-A423-09		12308715	65768533	21	609											
NCAN	1463	genome.wustl.edu	37	chr19	19335003	19335003	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctctctgaccgcactgttCggtgagggggatacacaggg	7	8	16	10	2	1	2	0	2	1	0	3	3	1	3	1	5	1	3	1	5	1	2			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr19:19335003C>T	ENST00000252575.6	+	4	748	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	217	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)	CCGCACTGTTCGGTGAGGGGG	0.587																																							0											0													68	59	62					19																	19335003		2203	4300	6503	SO:0001630	splice_region_variant	0			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.650+1C>T	19.37:g.19335003C>T			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.R217W	ENST00000252575.6	37	c.649	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634263	0.67130	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.11930	2.73	4.75	2.43	0.29744	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.35040	N	0.003497	T	0.48642	0.1511	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61773	-0.6994	10	0.87932	D	0	-29.229	10.0326	0.42109	0.5059:0.4941:0.0:0.0	.	217	O14594	NCAN_HUMAN	W	231;217	ENSP00000252575:R217W	ENSP00000252575:R217W	R	+	1	2	NCAN	19196003	0.018000	0.18449	1.000000	0.80357	0.974000	0.67602	0.225000	0.17757	0.978000	0.38470	-0.314000	0.08810	CGG	0	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link		0.587	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	protein_coding	OTTHUMT00000460111.2	38	100	0	0.00	0	0	C	NM_004386	0	0	Missense_Mutation	19335003	1	no_errors	ENST00000252575	ensembl	human	known	74_37	missense	43	114	13.73	10.16	7	13	SNP	0.87	T	T	19335003	C	T	19335003	5	4	56	1	0	0	0	0	0	0	1	0	10204	898	31	2	659	2	NCAN	19	19335003	Splice_Site	SNP	C	TCGA-XM-A8RC-01A-11D-A423-09		19335003	39793980	22	610											
FASTKD5	60493	genome.wustl.edu	37	chr20	3128199	3128199	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttaaggaggtcaaacttAgttctctcctgagctaacct	10	13	7	11	0	2	1	1	1	1	0	5	2	4	2	3	2	3	2	3	2	4	4			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chr20:3128199A>C	ENST00000380266.3	-	2	1839	c.1518T>G	c.(1516-1518)acT>acG	p.T506T	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	506					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGTCAAACTTAGTTCTCTCCT	0.468																																							0											0													53	49	50					20																	3128199		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1518T>G	20.37:g.3128199A>C			Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.T506	ENST00000380266.3	37	c.1518	CCDS13048.1	20																																																																																			0	NULL		0.468	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	protein_coding	OTTHUMT00000077701.2	20	262	0	0.00	0	0	A	NM_021826	0	0		3128199	-1	no_errors	ENST00000380266	ensembl	human	known	74_37	silent	38	311	11.63	10.09	5	35	SNP	0.076	C	C	3128199	A	C	3128199	2	2	56	1	0	0	0	0	0	0	0	1	5688	407	15	5		5	FASTKD5	20	3128199	Silent	SNP	A	TCGA-XM-A8RC-01A-11D-A423-09		3128199	59897321	23	611											
CXorf22	170063	genome.wustl.edu	37	chrX	35959479	35959479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatagtaaagtatattctAaagagattactatcactaac	18	12	4	7	0	2	1	1	0	1	1	2	2	2	1	1	0	2	2	1	0	11	9			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrX:35959479A>G	ENST00000297866.5	+	3	547	c.481A>G	c.(481-483)Aaa>Gaa	p.K161E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	161										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						AGTATATTCTAAAGAGATTAC	0.353																																							0											0													60	57	58					X																	35959479		2201	4294	6495	SO:0001583	missense	0			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.481A>G	X.37:g.35959479A>G	ENSP00000297866:p.Lys161Glu		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.K161E	ENST00000297866.5	37	c.481	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039106	0.35989	.	.	ENSG00000165164	ENST00000297866	T	0.42131	0.98	5.71	4.55	0.56014	.	0.093298	0.64402	N	0.000001	T	0.58779	0.2146	M	0.77103	2.36	0.26237	N	0.978932	D	0.65815	0.995	P	0.61940	0.896	T	0.54589	-0.8271	10	0.51188	T	0.08	-18.4784	8.6482	0.34018	0.9133:0.0:0.0867:0.0	.	161	Q6ZTR5	CX022_HUMAN	E	161	ENSP00000297866:K161E	ENSP00000297866:K161E	K	+	1	0	CXorf22	35869400	1.000000	0.71417	0.192000	0.23308	0.026000	0.11368	3.399000	0.52586	0.801000	0.34066	0.437000	0.28790	AAA	0	superfamily_PapD-like		0.353	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	protein_coding	OTTHUMT00000056216.2	83	118	0	0.00	0	0	A	NM_152632	0	0		35959479	1	no_errors	ENST00000297866	ensembl	human	known	74_37	missense	96	153	7.69	11.43	8	20	SNP	0.812	G	G	35959479	A	G	35959479	3	3	56	1	0	0	0	0	1	0	0	0	4102	363	13	3	491	3	CXorf22	23	35959479	Missense_Mutation	SNP	A	TCGA-XM-A8RC-01A-11D-A423-09		35959479	119311081	24	612											
BCOR	54880	genome.wustl.edu	37	chrX	39933500	39933500	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagggcaactgaaggagAggtggagatcctggcatagt	12	7	16	6	0	0	4	0	2	0	2	1	6	1	4	1	5	1	2	1	5	3	1			TCGA-XM-A8RC-01A-11D-A423-09	TCGA-XM-A8RC-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	63079442-ed32-400c-a2e9-a7004ac9c0d8	21abfc15-ddeb-49e4-b105-fc6d84224577	g.chrX:39933500A>T	ENST00000378444.4	-	4	1327	c.1099T>A	c.(1099-1101)Tct>Act	p.S367T	BCOR_ENST00000397354.3_Missense_Mutation_p.S367T|BCOR_ENST00000378455.4_Missense_Mutation_p.S367T|BCOR_ENST00000342274.4_Missense_Mutation_p.S367T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	367					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						ACTGAAGGAGAGGTGGAGATC	0.622			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																0		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													45	34	38					X																	39933500		2202	4300	6502	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1099T>A	X.37:g.39933500A>T	ENSP00000367705:p.Ser367Thr		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S367T	ENST00000378444.4	37	c.1099	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	A	16.01	3.002676	0.54254	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.56	5.56	0.83823	.	.	.	.	.	T	0.36193	0.0958	L	0.29908	0.895	0.44462	D	0.99739	D;D;D;D	0.67145	0.996;0.996;0.994;0.996	D;D;D;D	0.77557	0.99;0.99;0.977;0.99	T	0.20338	-1.0278	9	0.72032	D	0.01	-15.0327	9.3387	0.38067	0.9192:0.0:0.0808:0.0	.	367;367;367;367	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	367	ENSP00000367716:S367T;ENSP00000380512:S367T;ENSP00000367705:S367T;ENSP00000345923:S367T;ENSP00000384485:S367T	ENSP00000345923:S367T	S	-	1	0	BCOR	39818444	1.000000	0.71417	0.255000	0.24374	0.992000	0.81027	4.761000	0.62243	1.865000	0.54081	0.486000	0.48141	TCT	0	NULL		0.622	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	24	98	0	0.00	0	0	A	NM_017745	0	0		39933500	-1	no_errors	ENST00000378444	ensembl	human	known	74_37	missense	38	130	11.63	12.08	5	18	SNP	0.993	T	T	39933500	A	T	39933500	3	4	56	1	0	0	0	0	1	0	0	0	1386	304	11	5	4216	5	BCOR	23	39933500	Missense_Mutation	SNP	A	TCGA-XM-A8RC-01A-11D-A423-09	3974021	39933500	115337060	25	613											
MARK1	4139	genome.wustl.edu	37	chr1	220808856	220808856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaatcagaagcagcggCgtttcagtgatcatggtagg	12	8	13	8	2	3	2	3	1	0	1	3	2	3	2	0	3	3	4	0	3	3	2			TCGA-XM-A8RD-01A-11D-A423-09	TCGA-XM-A8RD-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6dcf015f-75c3-4cb1-a7d2-4c3834265d30	63c446d7-2dd1-4181-bfb9-005d3d96416b	g.chr1:220808856C>T	ENST00000366917.4	+	12	1527	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	MARK1_ENST00000366918.4_Missense_Mutation_p.R399C|MARK1_ENST00000402574.1_Missense_Mutation_p.R286C					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)		GAAGCAGCGGCGTTTCAGTGA	0.463																																							0											0													73	69	70					1																	220808856		2203	4300	6503	SO:0001583	missense	0			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.1261C>T	1.37:g.220808856C>T	ENSP00000355884:p.Arg421Cys			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.R421C	ENST00000366917.4	37	c.1261	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414215	0.83449	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.79247	-1.14;-1.0;-1.25	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.89022	0.6597	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.972;0.998;0.985;0.998	D	0.90036	0.4138	10	0.87932	D	0	.	15.0828	0.72127	0.1417:0.8583:0.0:0.0	.	421;286;421;399	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	C	286;399;421	ENSP00000386017:R286C;ENSP00000355885:R399C;ENSP00000355884:R421C	ENSP00000355884:R421C	R	+	1	0	MARK1	218875479	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.707000	0.61852	2.813000	0.96785	0.561000	0.74099	CGT	0	NULL		0.463	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	protein_coding	OTTHUMT00000090899.1	35	147	0	0.00	0	0	C		0	0		220808856	1	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	20	127	13.04	20.13	3	32	SNP	1	T	T	220808856	C	T	220808856	3	4	57	1	0	0	0	0	1	0	0	0	9312	768	27	1	1307	1	MARK1	1	220808856	Missense_Mutation	SNP	C	TCGA-XM-A8RD-01A-11D-A423-09		220808856	28441765	1	614											
PIK3R1	5295	genome.wustl.edu	37	chr5	67588086	67588086	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttttctttttcatctgcaGcactgcctcctaaaccacca	8	15	3	15	0	3	0	1	0	2	0	4	0	4	0	4	0	4	2	4	0	2	5			TCGA-XM-A8RD-01A-11D-A423-09	TCGA-XM-A8RD-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6dcf015f-75c3-4cb1-a7d2-4c3834265d30	63c446d7-2dd1-4181-bfb9-005d3d96416b	g.chr5:67588086G>A	ENST00000521381.1	+	8	1532		c.e8-1		PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000523872.1_5'Flank|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000521657.1_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.?(2)|p.0?(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)	TTCATCTGCAGCACTGCCTCC	0.343			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													0		Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	3	Unknown(2)|Whole gene deletion(1)	large_intestine(1)|lung(1)|ovary(1)											141	130	134					5																	67588086		2203	4300	6503	SO:0001630	splice_region_variant	0			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.917-1G>A	5.37:g.67588086G>A			B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	SNP	0	e7-1	ENST00000521381.1	37	c.917-1	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822180	0.71028	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084;ENST00000320694;ENST00000336483	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.115	0.93334	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3R1	67623842	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.822000	0.97130	0.563000	0.77884	.	0	0		0.343	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	protein_coding	OTTHUMT00000254013.2	118	287	0	0.00	0	0	G	NM_181504	0	0	Intron	67588086	1	no_errors	ENST00000396611	ensembl	human	known	74_37	splice_site	75	244	7.41	12.86	6	36	SNP	1	A	A	67588086	G	A	67588086	5	1	57	1	0	0	0	0	0	0	1	0	11918	985	34	3	1072	3	PIK3R1	5	67588086	Splice_Site	SNP	G	TCGA-XM-A8RD-01A-11D-A423-09		67588086	113327174	2	615											
ZNF658	26149	genome.wustl.edu	37	chr9	40774255	40774255	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgttttctgatgtactatAtgggctgagctctggctaaa	8	16	11	6	0	2	2	0	2	2	0	2	2	2	2	0	2	2	5	0	2	5	6			TCGA-XM-A8RD-01A-11D-A423-09	TCGA-XM-A8RD-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6dcf015f-75c3-4cb1-a7d2-4c3834265d30	63c446d7-2dd1-4181-bfb9-005d3d96416b	g.chr9:40774255A>C	ENST00000602553.1	-	5	1314	c.1020T>G	c.(1018-1020)caT>caG	p.H340Q	ZNF658_ENST00000441795.1_Missense_Mutation_p.H338Q|ZNF658_ENST00000377626.3_Missense_Mutation_p.H340Q			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	340					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)		GATGTACTATATGGGCTGAGC	0.388																																							0											0													64	67	66					9																	40774255		2198	4279	6477	SO:0001583	missense	0			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.1020T>G	9.37:g.40774255A>C	ENSP00000473484:p.His340Gln		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	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.H340Q	ENST00000602553.1	37	c.1020	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	a	8.979	0.974927	0.18736	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.14893	2.47;2.47	1.65	0.457	0.16661	.	.	.	.	.	T	0.08714	0.0216	N	0.24115	0.695	0.09310	N	1	P;B	0.35821	0.523;0.182	B;B	0.26864	0.074;0.019	T	0.24119	-1.0169	9	0.72032	D	0.01	.	4.9493	0.14006	0.8178:0.0:0.1822:0.0	.	340;340	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	Q	338;340	ENSP00000408462:H338Q;ENSP00000366853:H340Q	ENSP00000366853:H340Q	H	-	3	2	ZNF658	40764255	0.000000	0.05858	0.000000	0.03702	0.338000	0.28826	-1.358000	0.02604	0.125000	0.18397	0.315000	0.21342	CAT	0	NULL		0.388	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	protein_coding	OTTHUMT00000467800.1	109	106	0.91	1.85	1	2	A	NM_033160	0	0		40774255	-1	no_errors	ENST00000377626	ensembl	human	known	74_37	missense	82	90	9.89	5.26	9	5	SNP	0.003	C	C	40774255	A	C	40774255	3	2	57	1	0	0	0	0	1	0	0	0	18066	446	16	5	2163	5	ZNF658	9	40774255	Missense_Mutation	SNP	A	TCGA-XM-A8RD-01A-11D-A423-09		40774255	100439176	3	616											
PRKRIR	5612	genome.wustl.edu	37	chr11	76062107	76062107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcgtccattttcatacCgctcattctcaaccttcatc	7	16	3	15	2	4	0	4	0	1	0	8	0	5	0	3	0	2	2	3	0	2	6	rs34345847	byFrequency	TCGA-XM-A8RD-01A-11D-A423-09	TCGA-XM-A8RD-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6dcf015f-75c3-4cb1-a7d2-4c3834265d30	63c446d7-2dd1-4181-bfb9-005d3d96416b	g.chr11:76062107C>T	ENST00000260045.3	-	5	2192	c.2087G>A	c.(2086-2088)cGg>cAg	p.R696Q	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)	696					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						ATTTTCATACCGCTCATTCTC	0.393																																							0											0													76	72	73					11																	76062107		2200	4291	6491	SO:0001583	missense	0			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.2087G>A	11.37:g.76062107C>T	ENSP00000260045:p.Arg696Gln		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.R696Q	ENST00000260045.3	37	c.2087	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309319	0.23821	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.36340	1.26;1.26	5.44	4.51	0.55191	HAT dimerisation (1);Ribonuclease H-like (1);	0.372411	0.29080	N	0.013205	T	0.35480	0.0933	M	0.75884	2.315	0.29867	N	0.827114	B	0.20887	0.049	B	0.15052	0.012	T	0.39313	-0.9620	10	0.51188	T	0.08	.	6.5111	0.22222	0.0:0.7019:0.1818:0.1164	rs34345847	696	O43422	P52K_HUMAN	Q	521;696	ENSP00000436249:R521Q;ENSP00000260045:R696Q	ENSP00000260045:R696Q	R	-	2	0	PRKRIR	75739755	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.247000	0.43151	1.456000	0.47831	0.644000	0.83932	CGG	0	pfam_HATC_dom_C,superfamily_RNaseH-like_dom		0.393	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	protein_coding	OTTHUMT00000383188.1	116	115	0	1.71	0	2	C	NM_004705	rs34345847	C->T		76062107	-1	no_errors	ENST00000260045	ensembl	human	known	74_37	missense	88	75	11.11	7.41	11	6	SNP	0.979	T	T	76062107	C	T	76062107	3	4	57	1	0	0	0	0	1	0	0	0	12526	652	23	2	202	2	PRKRIR	11	76062107	Missense_Mutation	SNP	C	TCGA-XM-A8RD-01A-11D-A423-09		76062107	58944409	4	617											
MVP	9961	genome.wustl.edu	37	chr16	29848216	29848216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcccccacaactactgCgtgattctcgaccctgtcgg	6	9	10	16	3	1	1	0	1	1	0	3	2	1	1	3	2	3	0	3	2	2	2			TCGA-XM-A8RD-01A-11D-A423-09	TCGA-XM-A8RD-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6dcf015f-75c3-4cb1-a7d2-4c3834265d30	63c446d7-2dd1-4181-bfb9-005d3d96416b	g.chr16:29848216C>T	ENST00000357402.5	+	7	984	c.846C>T	c.(844-846)tgC>tgT	p.C282C	MVP_ENST00000395353.1_Silent_p.C282C|MVP_ENST00000452209.2_Missense_Mutation_p.R97C	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	282					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)	p.C282*(1)		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						ACAACTACTGCGTGATTCTCG	0.637																																							0											1	Substitution - Nonsense(1)	cervix(1)											71	55	61					16																	29848216		2197	4300	6497	SO:0001819	synonymous_variant	0			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.846C>T	16.37:g.29848216C>T			Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	NULL	p.R97C	ENST00000357402.5	37	c.289	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695005	0.30052	.	.	ENSG00000013364	ENST00000452209	T	0.64991	-0.13	5.58	2.13	0.27403	.	.	.	.	.	T	0.59609	0.2206	.	.	.	0.35797	D	0.82283	.	.	.	.	.	.	T	0.60737	-0.7204	5	.	.	.	-12.8557	7.8448	0.29419	0.0:0.2477:0.0:0.7523	.	.	.	.	C	97	ENSP00000387916:R97C	.	R	+	1	0	MVP	29755717	0.999000	0.42202	1.000000	0.80357	0.943000	0.58893	0.476000	0.22180	0.401000	0.25424	-0.487000	0.04747	CGT	0	NULL		0.637	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	protein_coding	OTTHUMT00000109711.3	55	104	1.79	0.95	1	1	C	NM_005115	0	0		29848216	1	no_errors	ENST00000452209	ensembl	human	known	74_37	missense	70	103	7.79	8.04	6	9	SNP	1	T	T	29848216	C	T	29848216	2	4	57	1	0	0	0	0	0	0	0	1	9996	776	27	1		1	MVP	16	29848216	Silent	SNP	C	TCGA-XM-A8RD-01A-11D-A423-09		29848216	60506537	5	618											
KRTAP4-3	85290	genome.wustl.edu	37	chr17	39324104	39324104	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaaggcctgcagcaactAgaaatgcagcagctggggcg	12	4	15	10	1	0	1	0	0	0	1	0	2	0	2	1	4	6	5	1	4	4	1	rs368619075		TCGA-XM-A8RD-01A-11D-A423-09	TCGA-XM-A8RD-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6dcf015f-75c3-4cb1-a7d2-4c3834265d30	63c446d7-2dd1-4181-bfb9-005d3d96416b	g.chr17:39324104A>G	ENST00000391356.2	-	1	320	c.321T>C	c.(319-321)tcT>tcC	p.S107S		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	107	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].		Missing (in allele KAP3-v2). {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S107S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGCAGCAACTAGAAATGCAGC	0.597																																							0											1	Substitution - coding silent(1)	large_intestine(1)											18	23	21					17																	39324104		2109	4252	6361	SO:0001819	synonymous_variant	0			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.321T>C	17.37:g.39324104A>G				Silent	SNP	pfam_Keratin-assoc	p.S107	ENST00000391356.2	37	c.321	CCDS42331.1	17																																																																																			0	NULL		0.597	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-3	protein_coding	OTTHUMT00000257784.1	87	15	1.14	0.00	1	0	A		rs368619075	A->G		39324104	-1	no_errors	ENST00000391356	ensembl	human	known	74_37	silent	91	24	7.14	7.69	7	2	SNP	0.009	G	G	39324104	A	G	39324104	2	3	57	1	0	0	0	0	0	0	0	1	8552	407	15	4		4	KRTAP4-3	17	39324104	Silent	SNP	A	TCGA-XM-A8RD-01A-11D-A423-09		39324104	41871106	6	619											
PRR21	643905	genome.wustl.edu	37	chr2	240981520	240981520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggtgaagaggcatggaCgaagggccgtgggtgaagag	10	5	21	5	3	0	4	0	2	0	2	0	6	0	5	1	5	0	1	1	5	3	0	rs28711942	byFrequency	TCGA-XM-A8RE-01A-11D-A423-09	TCGA-XM-A8RE-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3a72f9eb-97fe-441e-ac97-12cd782543f7	ccd11737-0766-4ef1-89c3-87fee132a7c2	g.chr2:240981520C>G	ENST00000408934.1	-	1	879	c.880G>C	c.(880-882)Gtc>Ctc	p.V294L		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	294	Pro-rich.									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						GAGGCATGGACGAAGGGCCGT	0.637													c|||	14	0.00279553	0.0023	0	5008	,	,		14494	0.004		0.003	False		,,,				2504	0.0041						0											0													7	4	5					2																	240981520		1265	2548	3813	SO:0001583	missense	0			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.880G>C	2.37:g.240981520C>G	ENSP00000386166:p.Val294Leu			Missense_Mutation	SNP	NULL	p.V294L	ENST00000408934.1	37	c.880	CCDS33417.1	2	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.415197	0.00191	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.14022	2.54;2.54	0.811	-1.62	0.08372	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.24186	0.099	B	0.19391	0.025	T	0.25745	-1.0123	9	0.24483	T	0.36	.	2.1274	0.03741	0.1592:0.1586:0.4698:0.2124	rs28711942	294	Q8WXC7	PRR21_HUMAN	L	294	ENSP00000386166:V294L;ENSP00000418240:V294L	ENSP00000386166:V294L	V	-	1	0	PRR21	240630193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.314000	0.00039	-4.737000	0.00034	-3.512000	0.00033	GTC	0	NULL		0.637	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR21	protein_coding		14	0	0	0.00	0	0	C	NM_001080835	rs28711942	C->G,T		240981520	-1	no_errors	ENST00000408934	ensembl	human	known	74_37	missense	20	0	31.03	0.00	9	0	SNP	0	G	G	240981520	C	G	240981520	3	3	58	1	0	0	0	0	1	0	0	0	12592	536	19	5	292	5	PRR21	2	240981520	Missense_Mutation	SNP	C	TCGA-XM-A8RE-01A-11D-A423-09		240981520	2217853	1	620											
TRAK1	22906	genome.wustl.edu	37	chr3	42251577	42251578	+	Intron	INS	-	-	GGAGGA																															caggagccgccagcggccacINSggaggaggaggaggaggagg																								rs10634555|rs35624871		TCGA-XM-A8RE-01A-11D-A423-09	TCGA-XM-A8RE-10A-01D-A426-09	-	-	-	GGAGGA	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3a72f9eb-97fe-441e-ac97-12cd782543f7	ccd11737-0766-4ef1-89c3-87fee132a7c2	g.chr3:42251577_42251578insGGAGGA	ENST00000327628.5	+	14	2363				TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_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)		0											1	Deletion - In frame(1)	kidney(1)																																								SO:0001627	intron_variant	0				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			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																																																																																			0	NULL		0.629	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	protein_coding	OTTHUMT00000343413.1	16	6	5.88	0.00	1	0	0	NM_014965	0	0		42251578	1	no_errors	ENST00000341421	ensembl	human	known	74_37	in_frame_ins	22	4	12	33.33	3	2	INS	0.010:0.044	GGAGGA	GGAGGA	42251578	-	GGAGGA	42251577	6	5	58	0	1	1	1	0	0	0	0	0	16446	536	19	0		0	TRAK1	3	42251577	Intron	INS	-	TCGA-XM-A8RE-01A-11D-A423-09		42251577	155770853	2	621											
PCDHB3	56132	genome.wustl.edu	37	chr5	140482342	140482342	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtcttcgctcttcctcttTtcggtgctcctgttcgtggc	0	18	10	13	3	3	0	0	0	3	0	8	0	5	0	2	2	1	3	2	2	0	5	rs17844403	byFrequency	TCGA-XM-A8RE-01A-11D-A423-09	TCGA-XM-A8RE-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3a72f9eb-97fe-441e-ac97-12cd782543f7	ccd11737-0766-4ef1-89c3-87fee132a7c2	g.chr5:140482342T>C	ENST00000231130.2	+	1	2109	c.2109T>C	c.(2107-2109)ttT>ttC	p.F703F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	703					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)			TCTTCCTCTTTTCGGTGCTCC	0.692																																							0											0													75	77	77					5																	140482342		2191	4265	6456	SO:0001819	synonymous_variant	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2109T>C	5.37:g.140482342T>C			B2R8P2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F703	ENST00000231130.2	37	c.2109	CCDS4245.1	5																																																																																			0	NULL		0.692	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	protein_coding	OTTHUMT00000251817.2	35	3	2.78	0.00	1	0	T	NM_018937	rs17844403	T->C		140482342	1	no_errors	ENST00000231130	ensembl	human	known	74_37	silent	36	5	16.28	0.00	7	0	SNP	0	C	C	140482342	T	C	140482342	2	2	58	1	0	0	0	0	0	0	0	1	11543	1838	64	3		3	PCDHB3	5	140482342	Silent	SNP	T	TCGA-XM-A8RE-01A-11D-A423-09		140482342	40432918	3	622											
ATP10B	23120	genome.wustl.edu	37	chr5	160071155	160071155	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacaatgacctgcatagatGacaatgccaacagccatctc	15	7	7	12	0	1	4	0	2	1	2	2	4	1	4	3	0	4	1	3	0	4	1			TCGA-XM-A8RE-01A-11D-A423-09	TCGA-XM-A8RE-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3a72f9eb-97fe-441e-ac97-12cd782543f7	ccd11737-0766-4ef1-89c3-87fee132a7c2	g.chr5:160071155G>A	ENST00000327245.5	-	9	1704	c.858C>T	c.(856-858)gtC>gtT	p.V286V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	286					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)			CTGCATAGATGACAATGCCAA	0.488																																							0											0													125	128	127					5																	160071155		1996	4176	6172	SO:0001819	synonymous_variant	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.858C>T	5.37:g.160071155G>A			Q9H725	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.V286	ENST00000327245.5	37	c.858	CCDS43394.1	5																																																																																			0	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp		0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	protein_coding	OTTHUMT00000374127.1	45	165	0	0.00	0	0	G	NM_025153	0	0		160071155	-1	no_errors	ENST00000327245	ensembl	human	known	74_37	silent	38	129	9.52	5.07	4	7	SNP	1	A	A	160071155	G	A	160071155	2	1	58	1	0	0	0	0	0	0	0	1	1117	1277	45	3		3	ATP10B	5	160071155	Silent	SNP	G	TCGA-XM-A8RE-01A-11D-A423-09	19588813	160071155	20844105	4	623											
KRT10	3858	genome.wustl.edu	37	chr17	38975308	38975319	+	In_Frame_Del	DEL	GCCGCCGTGGCC	GCCGCCGTGGCC	-																															ccgtagccgccgccggaactGccgccgtggccgccgccgtg																										TCGA-XM-A8RE-01A-11D-A423-09	TCGA-XM-A8RE-10A-01D-A426-09	GCCGCCGTGGCC	GCCGCCGTGGCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3a72f9eb-97fe-441e-ac97-12cd782543f7	ccd11737-0766-4ef1-89c3-87fee132a7c2	g.chr17:38975308_38975319delGCCGCCGTGGCC	ENST00000269576.5	-	7	1477_1488	c.1468_1479delGGCCACGGCGGC	c.(1468-1479)ggccacggcggcdel	p.GHGG490del	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	490	Gly-rich.|Ser-rich.|Tail.			Missing (in Ref. 8; AAA59199). {ECO:0000305}.	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)				cgccggaactgccgccgtggccgccgccgtgg	0.783																																							0											0										48,88		23,2,43						2.4	0.2			1	241,217		113,15,101	no	coding	KRT10	NM_000421.3		136,17,144	A1A1,A1R,RR		47.3799,35.2941,48.6532				289,305				SO:0001651	inframe_deletion	0			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.1468_1479delGGCCACGGCGGC	17.37:g.38975308_38975319delGCCGCCGTGGCC	ENSP00000269576:p.Gly490_Gly493del		Q14664|Q8N175	In_Frame_Del	DEL	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.GHGG490in_frame_del	ENST00000269576.5	37	c.1479_1468	CCDS11377.1	17																																																																																			0	NULL		0.783	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	protein_coding	OTTHUMT00000257875.1	18	0	0	0.00	0	0	GCCGCCGTGGCC	NM_000421	0	0		38975319	-1	no_errors	ENST00000269576	ensembl	human	known	74_37	in_frame_del	27	0	18.18	0.00	6	0	DEL	0.000:0.033:0.004:0.000:0.093:0.094:0.097:0.060:0.001:0.098:0.969:0.979	0	-	38975319	GCCGCCGTGGCC	-	38975308	7	5	58	1	0	1	0	1	0	0	0	0	8448	1306	46	0	283	0	KRT10	17	38975308	In_Frame_Del	DEL	GCCGCCGTGGCC	TCGA-XM-A8RE-01A-11D-A423-09		38975308	42219902	5	624											
CACNA1I	8911	genome.wustl.edu	37	chr22	40066205	40066205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacggcggcgtgaggagaagCggctgcggcgcctggagaag	8	3	20	10	6	0	3	0	1	0	2	0	5	0	3	1	6	2	1	1	6	2	0			TCGA-XM-A8RE-01A-11D-A423-09	TCGA-XM-A8RE-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3a72f9eb-97fe-441e-ac97-12cd782543f7	ccd11737-0766-4ef1-89c3-87fee132a7c2	g.chr22:40066205C>T	ENST00000402142.3	+	25	4357	c.4357C>T	c.(4357-4359)Cgg>Tgg	p.R1453W	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1418W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1418W|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1459W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1453W|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1418W	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1453					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)	TGAGGAGAAGCGGCTGCGGCG	0.647																																							0											0													92	93	93					22																	40066205		2075	4193	6268	SO:0001583	missense	0			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.4357C>T	22.37:g.40066205C>T	ENSP00000385019:p.Arg1453Trp		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.R1459W	ENST00000402142.3	37	c.4375	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983703	0.74474	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97378	-4.34;-4.31;-4.33;-4.29;-4.36;-4.27	4.13	1.85	0.25348	.	0.065110	0.64402	D	0.000009	D	0.98188	0.9401	M	0.85859	2.78	0.50171	D	0.999855	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.95;0.936;0.996	D	0.98006	1.0363	10	0.72032	D	0.01	.	12.298	0.54859	0.309:0.691:0.0:0.0	.	1418;1453;1418;1453	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	W	1453;1418;1453;1418;1459;1418	ENSP00000385019:R1453W;ENSP00000384093:R1418W;ENSP00000383887:R1453W;ENSP00000385680:R1418W;ENSP00000337829:R1459W;ENSP00000383028:R1418W	ENSP00000337829:R1459W	R	+	1	2	CACNA1I	38396151	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	1.329000	0.33770	0.260000	0.21731	0.555000	0.69702	CGG	0	prints_VDCC_T_a1su		0.647	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	protein_coding	OTTHUMT00000321290.1	45	30	0	0.00	0	0	C	NM_001003406	0	0		40066205	1	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	32	36	11.11	5.26	4	2	SNP	1	T	T	40066205	C	T	40066205	3	4	58	1	0	0	0	0	1	0	0	0	2546	759	27	1	4455	1	CACNA1I	22	40066205	Missense_Mutation	SNP	C	TCGA-XM-A8RE-01A-11D-A423-09		40066205	11238361	6	625											
PAX7	5081	genome.wustl.edu	37	chr1	19027246	19027246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaggcttcccacccaccGgcatgcccacgctgcccccc	6	4	9	22	2	0	0	0	0	0	0	1	1	1	1	7	3	2	3	7	3	0	1	rs370742910		TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr1:19027246G>A	ENST00000375375.3	+	6	1484	c.886G>A	c.(886-888)Ggc>Agc	p.G296S	PAX7_ENST00000400661.3_Missense_Mutation_p.G294S|PAX7_ENST00000420770.2_Missense_Mutation_p.G296S	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	296					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|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 cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	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)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CCCACCCACCGGCATGCCCAC	0.662			T	FOXO1A	alveolar rhabdomyosarcoma																																		0		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0								G	SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	42	35	38		886,886,880	4.8	0.9	1		38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PAX7	NM_001135254.1,NM_002584.2,NM_013945.2	56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	296/506,296/521,294/519	19027246	1,13005	2203	4300	6503	SO:0001583	missense	0			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.886G>A	1.37:g.19027246G>A	ENSP00000364524:p.Gly296Ser		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom	p.G296S	ENST00000375375.3	37	c.886	CCDS186.1	1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798527	0.31777	0.0	1.16E-4	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95001	-3.58;-3.56;-3.58	4.82	4.82	0.62117	.	0.055335	0.64402	D	0.000001	D	0.92642	0.7662	N	0.16478	0.41	0.80722	D	1	D;D;B	0.67145	0.979;0.996;0.184	P;P;B	0.59221	0.634;0.854;0.014	D	0.90163	0.4229	10	0.14252	T	0.57	.	16.6357	0.85059	0.0:0.0:1.0:0.0	.	296;294;296	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	S	296;296;294	ENSP00000364524:G296S;ENSP00000403389:G296S;ENSP00000383502:G294S	ENSP00000364524:G296S	G	+	1	0	PAX7	18899833	1.000000	0.71417	0.931000	0.37212	0.457000	0.32468	9.163000	0.94750	2.475000	0.83589	0.561000	0.74099	GGC	0	NULL		0.662	PAX7-001	KNOWN	basic|CCDS	protein_coding	PAX7	protein_coding	OTTHUMT00000006928.1	32	83	0	0.00	0	0	G	NM_002584	rs370742910	G->A		19027246	1	no_errors	ENST00000375375	ensembl	human	known	74_37	missense	21	40	36.36	33.33	12	20	SNP	0.999	A	A	19027246	G	A	19027246	3	1	59	1	0	0	0	0	1	0	0	0	11484	1116	39	2	908	2	PAX7	1	19027246	Missense_Mutation	SNP	G	TCGA-XM-A8RF-01A-11D-A423-09		19027246	230223375	1	626											
UBR4	23352	genome.wustl.edu	37	chr1	19470510	19470510	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggggaagagggtaaagTcacatgtctccgtttgttcc	9	11	13	8	2	2	1	1	0	1	1	5	3	3	2	2	3	0	3	2	3	3	3			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr1:19470510T>C	ENST00000375254.3	-	55	8170	c.8143A>G	c.(8143-8145)Act>Gct	p.T2715A	UBR4_ENST00000375226.2_Missense_Mutation_p.T2726A|UBR4_ENST00000375217.2_Missense_Mutation_p.T2743A|UBR4_ENST00000375267.2_Missense_Mutation_p.T2715A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2715					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)		GAGGGTAAAGTCACATGTCTC	0.488																																							0											0													253	218	230					1																	19470510		2203	4300	6503	SO:0001583	missense	0			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.8143A>G	1.37:g.19470510T>C	ENSP00000364403:p.Thr2715Ala		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.T2715A	ENST00000375254.3	37	c.8143	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146144	0.37923	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.22134	1.97;1.97;1.99;1.98	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	N	0.11427	0.14	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.14062	-1.0486	10	0.15952	T	0.53	.	15.5593	0.76229	0.0:0.0:0.0:1.0	.	2715	Q5T4S7	UBR4_HUMAN	A	2715;2715;2743;2726;358;1436	ENSP00000364403:T2715A;ENSP00000364416:T2715A;ENSP00000364365:T2743A;ENSP00000364374:T2726A	ENSP00000364365:T2743A	T	-	1	0	UBR4	19343097	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.490000	0.81461	2.258000	0.74832	0.533000	0.62120	ACT	0	superfamily_ARM-type_fold		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	protein_coding	OTTHUMT00000007085.1	71	232	1.37	0.00	1	0	T	NM_020765	0	0		19470510	-1	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	94	135	29.85	28.57	40	54	SNP	1	C	C	19470510	T	C	19470510	3	2	59	1	0	0	0	0	1	0	0	0	16901	1667	58	3	7616	3	UBR4	1	19470510	Missense_Mutation	SNP	T	TCGA-XM-A8RF-01A-11D-A423-09	443264	19470510	229780111	2	627											
NPHS2	7827	genome.wustl.edu	37	chr1	179528897	179528897	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaaaaaaagaaaagacCtaaaagagaggaggaggaag	23	1	14	3	0	0	3	0	0	0	3	0	7	0	6	1	4	0	1	1	4	9	1			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr1:179528897C>A	ENST00000367615.4	-	4	520		c.e4-1		NPHS2_ENST00000367616.4_Splice_Site	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)						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						AAGAAAAGACCTAAAAGAGAG	0.438																																							0											0													32	28	30					1																	179528897		2203	4300	6503	SO:0001630	splice_region_variant	0			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.452-1G>T	1.37:g.179528897C>A			B1AM32|B1AM33|Q8N6Q5	Splice_Site	SNP	0	e4-1	ENST00000367615.4	37	c.452-1	CCDS1331.1	1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858795	0.71834	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.477	0.87661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPHS2	177795520	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.184000	0.58323	2.475000	0.83589	0.561000	0.74099	.	0	0		0.438	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS2	protein_coding	OTTHUMT00000085283.1	24	204	0	0.00	0	0	C		0	0	Intron	179528897	-1	no_errors	ENST00000367615	ensembl	human	known	74_37	splice_site	20	107	25.93	6.14	7	7	SNP	1	A	A	179528897	C	A	179528897	5	1	59	1	0	0	0	0	0	0	1	0	10583	695	24	5	720	5	NPHS2	1	179528897	Splice_Site	SNP	C	TCGA-XM-A8RF-01A-11D-A423-09	160058387	179528897	69721724	3	628											
RYR2	6262	genome.wustl.edu	37	chr1	237777980	237777980	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgattgagcccagtgtgtTtaaagaagctgccactccgg	9	11	12	9	1	0	3	0	2	0	1	1	3	1	3	3	1	3	3	3	1	3	4			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr1:237777980T>A	ENST00000366574.2	+	37	5869	c.5552T>A	c.(5551-5553)tTt>tAt	p.F1851Y	RYR2_ENST00000360064.6_Missense_Mutation_p.F1849Y|RYR2_ENST00000542537.1_Missense_Mutation_p.F1835Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1851	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)			CCCAGTGTGTTTAAAGAAGCT	0.498																																							0											0													58	61	60					1																	237777980		1994	4182	6176	SO:0001583	missense	0			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.5552T>A	1.37:g.237777980T>A	ENSP00000355533:p.Phe1851Tyr		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.F1849Y	ENST00000366574.2	37	c.5546	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249136	0.80024	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73681	-0.77;-0.77;-0.77	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000005	D	0.85173	0.5636	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.86109	0.1561	10	0.54805	T	0.06	.	15.8259	0.78706	0.0:0.0:0.0:1.0	.	1851	Q92736	RYR2_HUMAN	Y	1851;1849;1835	ENSP00000355533:F1851Y;ENSP00000353174:F1849Y;ENSP00000443798:F1835Y	ENSP00000353174:F1849Y	F	+	2	0	RYR2	235844603	1.000000	0.71417	0.984000	0.44739	0.899000	0.52679	7.997000	0.88414	2.153000	0.67306	0.528000	0.53228	TTT	0	NULL		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	28	129	0	0.00	0	0	T	NM_001035	0	0		237777980	1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	15	59	58.33	34.78	21	32	SNP	1	A	A	237777980	T	A	237777980	3	1	59	1	0	0	0	0	1	0	0	0	13769	1841	64	5	5698	5	RYR2	1	237777980	Missense_Mutation	SNP	T	TCGA-XM-A8RF-01A-11D-A423-09	58249083	237777980	11472641	4	629											
ADAM23	8745	genome.wustl.edu	37	chr2	207459556	207459556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgtttagatcggaagtGcctacaaattcaagccctaa	13	11	9	8	1	1	1	1	0	0	1	2	3	1	2	2	1	3	1	2	1	6	5			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr2:207459556G>A	ENST00000264377.3	+	23	2502	c.2174G>A	c.(2173-2175)tGc>tAc	p.C725Y	ADAM23_ENST00000374416.1_Missense_Mutation_p.C725Y|ADAM23_ENST00000374415.3_Missense_Mutation_p.C725Y	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	725					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GATCGGAAGTGCCTACAAATT	0.468																																					Melanoma(194;1127 2130 19620 24042 27855)		0											0													201	185	191					2																	207459556		2203	4300	6503	SO:0001583	missense	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2174G>A	2.37:g.207459556G>A	ENSP00000264377:p.Cys725Tyr		A2RU59	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.C725Y	ENST00000264377.3	37	c.2174	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724679	0.89298	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.16743	2.32;2.34;2.35	5.91	5.91	0.95273	ADAM, cysteine-rich (1);	0.000000	0.64402	D	0.000001	T	0.59824	0.2222	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73260	-0.4039	10	0.87932	D	0	.	19.2892	0.94092	0.0:0.0:1.0:0.0	.	725	O75077	ADA23_HUMAN	Y	725;725;619;725	ENSP00000264377:C725Y;ENSP00000363537:C725Y;ENSP00000363536:C725Y	ENSP00000264377:C725Y	C	+	2	0	ADAM23	207167801	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.804000	0.96469	0.650000	0.86243	TGC	0	smart_ADAM_Cys-rich		0.468	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	protein_coding	OTTHUMT00000256431.2	70	232	0	0.00	0	0	G	NM_003812	0	0		207459556	1	no_errors	ENST00000264377	ensembl	human	known	74_37	missense	51	81	39.29	40.58	33	56	SNP	1	A	A	207459556	G	A	207459556	3	1	59	1	0	0	0	0	1	0	0	0	245	1319	46	3	2264	3	ADAM23	2	207459556	Missense_Mutation	SNP	G	TCGA-XM-A8RF-01A-11D-A423-09		207459556	35739817	5	630											
SETMAR	6419	genome.wustl.edu	37	chr3	4358878	4358878	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctacaggaataaaccaacTtatttctcgttggcaaaaat	15	11	6	9	2	1	0	0	0	1	0	2	1	1	1	1	2	3	3	1	2	8	5			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr3:4358878T>G	ENST00000358065.4	+	3	2070	c.2003T>G	c.(2002-2004)cTt>cGt	p.L668R	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.L529R	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	668	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ataaaccaacttatttctcgt	0.373								Chromatin Structure																															0											0													6	6	6					3																	4358878		1512	2632	4144	SO:0001583	missense	0			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.2003T>G	3.37:g.4358878T>G	ENSP00000373354:p.Leu668Arg		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.L668R	ENST00000358065.4	37	c.2003	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186059	0.38609	.	.	ENSG00000170364	ENST00000358065;ENST00000425863	D;D	0.86497	-2.13;-2.13	0.235	0.235	0.15431	.	6.675710	0.01239	U	0.008570	D	0.92564	0.7638	M	0.89163	3.01	0.24562	N	0.993961	P;D;P;P	0.59767	0.9;0.986;0.943;0.876	B;P;P;B	0.55011	0.366;0.632;0.766;0.275	T	0.75255	-0.3382	9	0.87932	D	0	.	.	.	.	rs34245352	412;529;655;413	B4DND2;E7EN68;Q53H47;Q96H41	.;.;SETMR_HUMAN;.	R	668;529	ENSP00000373354:L668R;ENSP00000403145:L529R	ENSP00000373354:L668R	L	+	2	0	SETMAR	4333878	0.845000	0.29573	0.914000	0.36105	0.913000	0.54294	0.310000	0.19356	0.263000	0.21812	0.260000	0.18958	CTT	0	NULL		0.373	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	protein_coding	OTTHUMT00000206587.4	30	0	0	0.00	0	0	T	NM_006515	0	0		4358878	1	no_errors	ENST00000358065	ensembl	human	known	74_37	missense	35	0	39.66	0.00	23	0	SNP	0.939	G	G	4358878	T	G	4358878	3	3	59	1	0	0	0	0	1	0	0	0	14140	1609	56	5	2013	5	SETMAR	3	4358878	Missense_Mutation	SNP	T	TCGA-XM-A8RF-01A-11D-A423-09		4358878	193663552	6	631											
SCARB2	950	genome.wustl.edu	37	chr4	77100714	77100714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagatatcgggcctgaaaaCatggataagggacaagattt	16	8	12	5	1	0	3	0	1	0	2	1	6	0	5	1	3	1	0	1	3	5	3			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr4:77100714C>A	ENST00000264896.2	-	4	917	c.568G>T	c.(568-570)Gtt>Ttt	p.V190F	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	190	Important for interaction with GBA.				cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GGCCTGAAAACATGGATAAGG	0.438																																							0											0													149	147	148					4																	77100714		2203	4300	6503	SO:0001583	missense	0			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.568G>T	4.37:g.77100714C>A	ENSP00000264896:p.Val190Phe		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	pfam_CD36,superfamily_NA-bd_OB-fold,prints_LimpII,prints_CD36,prints_CD36_antigen	p.V190F	ENST00000264896.2	37	c.568	CCDS3577.1	4	.	.	.	.	.	.	.	.	.	.	C	1.343	-0.593641	0.03771	.	.	ENSG00000138760	ENST00000264896	T	0.71817	-0.6	5.77	-11.5	0.00074	.	1.613560	0.02822	N	0.125715	T	0.55465	0.1922	L	0.43152	1.355	0.09310	N	1	B	0.30193	0.272	B	0.36766	0.232	T	0.37753	-0.9692	10	0.10111	T	0.7	.	6.1746	0.20437	0.0715:0.163:0.2137:0.5518	.	190	Q14108	SCRB2_HUMAN	F	190	ENSP00000264896:V190F	ENSP00000264896:V190F	V	-	1	0	SCARB2	77319738	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.849000	0.00178	-2.821000	0.00343	-1.113000	0.02065	GTT	0	pfam_CD36,prints_LimpII		0.438	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARB2	protein_coding	OTTHUMT00000252403.1	53	345	0	0.00	0	0	C	NM_005506	0	0		77100714	-1	no_errors	ENST00000264896	ensembl	human	known	74_37	missense	83	126	34.38	39.13	44	81	SNP	0	A	A	77100714	C	A	77100714	3	1	59	1	0	0	0	0	1	0	0	0	13882	478	17	5	904	5	SCARB2	4	77100714	Missense_Mutation	SNP	C	TCGA-XM-A8RF-01A-11D-A423-09		77100714	114053562	7	632											
DSPP	1834	genome.wustl.edu	37	chr4	88537216	88537216	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagcagcgacagcagtgaTagcagtgacagcagcaacag	15	3	13	10	1	0	2	0	2	0	0	0	4	0	2	0	0	7	5	0	0	2	1	rs200679221		TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr4:88537216T>C	ENST00000282478.7	+	4	3435	c.3402T>C	c.(3400-3402)gaT>gaC	p.D1134D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1134D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1134	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	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)		acagcagtgatagcagtgaca	0.562																																							0											0													18	27	24					4																	88537216		1318	2533	3851	SO:0001819	synonymous_variant	0			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.3402T>C	4.37:g.88537216T>C			A8MUI0|O95815	Silent	SNP	NULL	p.D1134	ENST00000282478.7	37	c.3402	CCDS43248.1	4																																																																																			0	NULL		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	17	5	0	0.00	0	0	T	NM_014208	0	0		88537216	1	no_errors	ENST00000282478	ensembl	human	known	74_37	silent	40	1	19.61	0.00	10	0	SNP	0.798	C	C	88537216	T	C	88537216	2	2	59	1	0	0	0	0	0	0	0	1	4782	1403	49	3		3	DSPP	4	88537216	Silent	SNP	T	TCGA-XM-A8RF-01A-11D-A423-09	11436502	88537216	102617060	8	633											
DNAH5	1767	genome.wustl.edu	37	chr5	13810293	13810293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtccgtccagctccagcGccgcccccgcgctccacagc	4	4	10	23	6	0	0	0	0	0	0	4	0	4	0	8	0	3	2	8	0	0	0			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr5:13810293G>T	ENST00000265104.4	-	45	7588	c.7484C>A	c.(7483-7485)gCg>gAg	p.A2495E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2495					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)					CAGCTCCAGCGCCGCCCCCGC	0.716									Kartagener syndrome																														0											0													3	4	4					5																	13810293		1865	3724	5589	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7484C>A	5.37:g.13810293G>T	ENSP00000265104:p.Ala2495Glu		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.A2495E	ENST00000265104.4	37	c.7484	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227940	0.39399	.	.	ENSG00000039139	ENST00000265104	T	0.24151	1.87	5.4	0.813	0.18749	.	0.764896	0.12382	N	0.473768	T	0.21427	0.0516	L	0.40543	1.245	0.09310	N	1	B	0.20164	0.042	B	0.25140	0.058	T	0.25502	-1.0130	10	0.46703	T	0.11	.	9.4807	0.38900	0.7919:0.0:0.2081:0.0	.	2495	Q8TE73	DYH5_HUMAN	E	2495	ENSP00000265104:A2495E	ENSP00000265104:A2495E	A	-	2	0	DNAH5	13863293	0.108000	0.22018	0.038000	0.18304	0.439000	0.31926	3.051000	0.49885	-0.075000	0.12798	0.655000	0.94253	GCG	0	NULL		0.716	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	37	11	0	0.00	0	0	G	NM_001369	0	0		13810293	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	46	10	7.84	0.00	4	0	SNP	0.309	T	T	13810293	G	T	13810293	3	4	59	1	0	0	0	0	1	0	0	0	4604	1087	38	5	6530	5	DNAH5	5	13810293	Missense_Mutation	SNP	G	TCGA-XM-A8RF-01A-11D-A423-09		13810293	167104967	9	634											
TAF9	6880	genome.wustl.edu	37	chr5	68665316	68665316	+	5'UTR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatgttcggaagcaacAtggtccccgccgcgacggct	8	6	14	13	5	0	0	0	0	0	0	2	3	1	2	3	4	2	4	3	4	2	1			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr5:68665316A>C	ENST00000217893.5	-	0	153				RAD17_ENST00000380774.3_5'Flank|RAD17_ENST00000354868.5_5'Flank|RAD17_ENST00000509734.1_5'Flank|TAF9_ENST00000502819.1_5'UTR|RAD17_ENST00000354312.3_5'Flank|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000512561.1_Start_Codon_SNP_p.M1R|RAD17_ENST00000361732.2_Intron|RAD17_ENST00000282891.6_5'Flank|RAD17_ENST00000358030.2_5'Flank|RAD17_ENST00000305138.4_5'Flank|TAF9_ENST00000380822.4_Start_Codon_SNP_p.M1R|TAF9_ENST00000328663.4_Intron|RAD17_ENST00000345306.6_5'Flank|RAD17_ENST00000521422.1_5'Flank|TAF9_ENST00000506736.1_5'Flank	NM_003187.4	NP_003178.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa						cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|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)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CGGAAGCAACATGGTCCCCGC	0.731																																							0											0													19	25	23					5																	68665316		2180	4276	6456	SO:0001623	5_prime_UTR_variant	0			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000217893.5:c.-137T>G	5.37:g.68665316A>C			D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase	p.M1R	ENST00000217893.5	37	c.2	CCDS4002.1	5	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489249	0.84962	.	.	ENSG00000085231	ENST00000380822;ENST00000512561	.	.	.	4.61	4.61	0.57282	.	0.157731	0.52532	U	0.000068	T	0.68265	0.2982	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.58077	0.832	T	0.72388	-0.4309	8	0.87932	D	0	-24.2839	10.3055	0.43678	1.0:0.0:0.0:0.0	.	1	Q9Y3D8	KAD6_HUMAN	R	1	.	ENSP00000370201:M1R	M	-	2	0	TAF9	68701072	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	2.655000	0.46707	1.933000	0.56026	0.459000	0.35465	ATG	0	NULL		0.731	TAF9-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	TAF9	protein_coding	OTTHUMT00000216803.1	17	54	0	0.00	0	0	A	NM_003187	0	0		68665316	-1	no_errors	ENST00000380822	ensembl	human	known	74_37	missense	11	33	31.25	32.65	5	16	SNP	1	C	C	68665316	A	C	68665316	1	2	59	0	1	0	0	0	0	0	0	0	15532	217	8	5		5	TAF9	5	68665316	5'UTR	SNP	A	TCGA-XM-A8RF-01A-11D-A423-09	54855023	68665316	112249944	10	635											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	442	197	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	637	116	28.02	29.27	248	48	SNP	1	A	A	74146970	T	A	74146970	3	1	59	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-XM-A8RF-01A-11D-A423-09		74146970	84991693	11	636											
KHDRBS3	10656	genome.wustl.edu	37	chr8	136554927	136554927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaaacttttgggtccaCgtggcaattctctgaagcgt	8	12	13	8	2	1	1	0	1	1	0	3	2	2	2	1	4	2	1	1	4	3	3			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr8:136554927C>T	ENST00000355849.5	+	3	648	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	80	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTTGGGTCCACGTGGCAATTC	0.353																																							0											0													134	140	138					8																	136554927		2203	4300	6503	SO:0001583	missense	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.238C>T	8.37:g.136554927C>T	ENSP00000348108:p.Arg80Cys		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	smart_KH_dom	p.R80C	ENST00000355849.5	37	c.238	CCDS6374.1	8	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845718	0.71603	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.48836	0.8;0.8;0.8	5.82	3.05	0.35203	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.975;0.983	T	0.70536	-0.4845	10	0.87932	D	0	-10.3465	7.7439	0.28858	0.1331:0.7276:0.0:0.1393	.	80;80	O75525-2;O75525	.;KHDR3_HUMAN	C	80;52;53	ENSP00000348108:R80C;ENSP00000431022:R52C;ENSP00000430284:R53C	ENSP00000348108:R80C	R	+	1	0	KHDRBS3	136624109	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.802000	0.85969	0.373000	0.24621	0.655000	0.94253	CGT	0	smart_KH_dom		0.353	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	protein_coding	OTTHUMT00000377529.1	69	355	0	0.00	0	0	C		0	0		136554927	1	no_errors	ENST00000355849	ensembl	human	known	74_37	missense	72	124	41.46	42.66	51	93	SNP	0.998	T	T	136554927	C	T	136554927	3	4	59	1	0	0	0	0	1	0	0	0	8148	536	19	1	248	1	KHDRBS3	8	136554927	Missense_Mutation	SNP	C	TCGA-XM-A8RF-01A-11D-A423-09		136554927	9809095	12	637											
RALGPS1	9649	genome.wustl.edu	37	chr9	129815132	129815132	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctttttttcagaaacttCtagaactcaacaaccttcat	13	16	2	10	0	5	2	3	0	2	2	5	2	5	2	1	0	4	0	1	0	6	7	rs150464808		TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr9:129815132C>T	ENST00000259351.5	+	7	664	c.397C>T	c.(397-399)Cta>Tta	p.L133L	RALGPS1_ENST00000373434.1_Silent_p.L133L|RALGPS1_ENST00000373436.1_Silent_p.L133L|RALGPS1_ENST00000394022.3_Silent_p.L133L|RALGPS1_ENST00000424082.2_Silent_p.L133L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	133	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						TCAGAAACTTCTAGAACTCAA	0.353																																							0											0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	130	129	129		397,397,397,397	5.9	1	9	dbSNP_134	129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RALGPS1	NM_001190728.1,NM_001190729.1,NM_001190730.1,NM_014636.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	133/530,133/538,133/306,133/558	129815132	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.397C>T	9.37:g.129815132C>T			B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.L133	ENST00000259351.5	37	c.397	CCDS35143.1	9																																																																																			0	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.353	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	protein_coding	OTTHUMT00000054133.1	78	330	0	0.60	0	2	C	NM_014636	rs150464808	C->T		129815132	1	no_errors	ENST00000259351	ensembl	human	known	74_37	silent	77	130	39.53	42.79	51	98	SNP	1	T	T	129815132	C	T	129815132	2	4	59	1	0	0	0	0	0	0	0	1	13017	912	32	3		3	RALGPS1	9	129815132	Silent	SNP	C	TCGA-XM-A8RF-01A-11D-A423-09		129815132	11398299	13	638											
ZNF438	220929	genome.wustl.edu	37	chr10	31138511	31138511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgcattgccaagaatggTtggtgataaattggtcatgg	12	12	12	5	0	1	2	1	1	0	1	1	2	1	2	1	4	3	2	1	4	5	4			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr10:31138511T>C	ENST00000361310.3	-	6	1152	c.823A>G	c.(823-825)Acc>Gcc	p.T275A	ZNF438_ENST00000538351.2_Missense_Mutation_p.T226A|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000436087.2_Missense_Mutation_p.T275A|ZNF438_ENST00000331737.6_Missense_Mutation_p.T265A|ZNF438_ENST00000442986.1_Missense_Mutation_p.T275A|ZNF438_ENST00000444692.2_Missense_Mutation_p.T265A|ZNF438_ENST00000452305.1_Missense_Mutation_p.T265A|ZNF438_ENST00000413025.1_Missense_Mutation_p.T275A			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	275					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)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CCAAGAATGGTTGGTGATAAA	0.388																																							0											0													197	184	188					10																	31138511		2203	4300	6503	SO:0001583	missense	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.823A>G	10.37:g.31138511T>C	ENSP00000354663:p.Thr275Ala		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T275A	ENST00000361310.3	37	c.823	CCDS7168.1	10	.	.	.	.	.	.	.	.	.	.	T	0.439	-0.899354	0.02472	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53	5.44	-0.717	0.11208	.	0.395339	0.30311	N	0.009916	T	0.01627	0.0052	N	0.02225	-0.63	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.43310	-0.9399	10	0.02654	T	1	-0.9289	4.3665	0.11227	0.2343:0.4307:0.0:0.335	.	275;265	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	A	265;275;275;275;275;265;265;226	ENSP00000333571:T265A;ENSP00000354663:T275A;ENSP00000406934:T275A;ENSP00000412363:T275A;ENSP00000387546:T275A;ENSP00000413060:T265A;ENSP00000410898:T265A;ENSP00000445461:T226A	ENSP00000333571:T265A	T	-	1	0	ZNF438	31178517	0.005000	0.15991	0.000000	0.03702	0.011000	0.07611	0.400000	0.20932	-0.447000	0.07138	-0.242000	0.12053	ACC	0	NULL		0.388	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	protein_coding	OTTHUMT00000277006.1	79	325	0	0.00	0	0	T	NM_182755	0	0		31138511	-1	no_errors	ENST00000361310	ensembl	human	known	74_37	missense	87	105	34.09	44.15	45	83	SNP	0.001	C	C	31138511	T	C	31138511	3	2	59	1	0	0	0	0	1	0	0	0	17907	1725	60	3	1671	3	ZNF438	10	31138511	Missense_Mutation	SNP	T	TCGA-XM-A8RF-01A-11D-A423-09		31138511	104396236	14	639											
PPFIBP1	8496	genome.wustl.edu	37	chr12	27835371	27835371	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaactccagctagcactcCaagccctgggatctgaagaa	14	6	9	12	0	1	3	0	1	1	2	3	4	3	4	3	1	4	2	3	1	5	1			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr12:27835371C>T	ENST00000318304.8	+	22	2399	c.2116C>T	c.(2116-2118)Caa>Taa	p.Q706*	PPFIBP1_ENST00000542629.1_Nonsense_Mutation_p.Q675*|PPFIBP1_ENST00000228425.6_Nonsense_Mutation_p.Q700*|PPFIBP1_ENST00000537927.1_Nonsense_Mutation_p.Q553*	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	706	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)					GCTAGCACTCCAAGCCCTGGG	0.363																																							0											0													99	113	108					12																	27835371		2203	4300	6503	SO:0001587	stop_gained	0			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.2116C>T	12.37:g.27835371C>T	ENSP00000314724:p.Gln706*		O75336|Q86X70|Q9NY03|Q9ULJ0	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Q706*	ENST00000318304.8	37	c.2116	CCDS55812.1	12	.	.	.	.	.	.	.	.	.	.	C	39	7.364536	0.98238	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	.	.	.	5.29	5.29	0.74685	.	0.000000	0.32901	U	0.005513	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-19.0623	18.5591	0.91094	0.0:1.0:0.0:0.0	.	.	.	.	X	537;553;706;675;700	.	ENSP00000228425:Q700X	Q	+	1	0	PPFIBP1	27726638	1.000000	0.71417	0.962000	0.40283	0.123000	0.20343	5.879000	0.69690	2.480000	0.83734	0.655000	0.94253	CAA	0	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.363	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	protein_coding	OTTHUMT00000402877.1	67	344	0	0.00	0	0	C	NM_003622	0	0		27835371	1	no_errors	ENST00000318304	ensembl	human	known	74_37	nonsense	100	122	39.76	44.04	66	96	SNP	1	T	T	27835371	C	T	27835371	4	4	59	1	0	0	0	0	0	1	0	0	12313	595	21	3	2222	3	PPFIBP1	12	27835371	Nonsense_Mutation	SNP	C	TCGA-XM-A8RF-01A-11D-A423-09		27835371	106016524	15	640											
SLC22A17	51310	genome.wustl.edu	37	chr14	23816667	23816667	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtgcctgtctgaagcAcctctgttggggttcccttg	3	14	13	11	0	2	1	0	1	2	0	3	1	3	1	3	3	2	4	3	3	1	3			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr14:23816667A>C	ENST00000206544.8	-	7	1553		c.e7+1		SLC22A17_ENST00000354772.3_Intron|SLC22A17_ENST00000474057.1_Intron|SLC22A17_ENST00000397267.1_Splice_Site|SLC22A17_ENST00000397260.3_Intron	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						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)		TGTCTGAAGCACCTCTGTTGG	0.612																																							0											0													44	38	40					14																	23816667		2203	4299	6502	SO:0001630	splice_region_variant	0			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.1216+1T>G	14.37:g.23816667A>C			A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Splice_Site	SNP	0	e7+2	ENST00000206544.8	37	c.1216+2	CCDS9593.1	14	.	.	.	.	.	.	.	.	.	.	A	10.90	1.480659	0.26598	.	.	ENSG00000092096	ENST00000206544;ENST00000397267	.	.	.	3.94	1.54	0.23209	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.3043	0.06994	0.6886:0.0:0.1099:0.2016	.	.	.	.	.	-1	.	.	.	-	.	.	SLC22A17	22886507	0.536000	0.26378	0.921000	0.36526	0.854000	0.48673	0.936000	0.28938	0.332000	0.23536	0.529000	0.55759	.	0	0		0.612	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC22A17	protein_coding	OTTHUMT00000157223.3	41	129	0	0.00	0	0	A	NM_020372	0	0	Intron	23816667	-1	no_errors	ENST00000206544	ensembl	human	known	74_37	splice_site	18	69	35.71	31.37	10	32	SNP	0.988	C	C	23816667	A	C	23816667	5	2	59	1	0	0	0	0	0	0	1	0	14448	173	6	5	410	5	SLC22A17	14	23816667	Splice_Site	SNP	A	TCGA-XM-A8RF-01A-11D-A423-09		23816667	83532873	16	641											
ABCD4	5826	genome.wustl.edu	37	chr14	74759934	74759935	+	Frame_Shift_Ins	INS	-	-	GC																															cctgcggtctgtcctcatgtINSgctccacatgcccagctctg																										TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	-	-	-	GC	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr14:74759934_74759935insGC	ENST00000356924.4	-	8	879_880	c.736_737insGC	c.(736-738)cacfs	p.H246fs	ABCD4_ENST00000298816.7_Frame_Shift_Ins_p.H142fs|ABCD4_ENST00000557588.1_Intron|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	246	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)		TGTCCTCATGTGCTCCACATGC	0.619																																							0											0																																										SO:0001589	frameshift_variant	0			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.735_736dupGC	14.37:g.74759935_74759936dupGC	ENSP00000349396:p.His246fs		A8K5L7|Q6IAQ0|Q96E75	Frame_Shift_Ins	INS	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.H246fs	ENST00000356924.4	37	c.737_736	CCDS9828.1	14																																																																																			0	pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.619	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	protein_coding	OTTHUMT00000314382.1	34	125	0	0.00	0	0	0	NM_005050	0	0		74759935	-1	no_errors	ENST00000356924	ensembl	human	known	74_37	frame_shift_ins	23	64	32.35	24.71	11	21	INS	1.000:1.000	GC	GC	74759935	-	GC	74759934	7	5	59	1	0	1	1	0	0	0	0	0	63	1696	59	0	1131	0	ABCD4	14	74759934	Frame_Shift_Ins	INS	-	TCGA-XM-A8RF-01A-11D-A423-09	50943267	74759934	32589606	17	642											
MAP2K1	5604	genome.wustl.edu	37	chr15	66727443	66727443	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagcgccttgaggccttTcttacccagaagcagaaggt	11	8	11	11	2	1	3	0	1	1	2	1	4	1	3	3	2	3	1	3	2	4	3			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr15:66727443T>G	ENST00000307102.5	+	2	690	c.159T>G	c.(157-159)ttT>ttG	p.F53L		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	53			F -> S (in CFC3). {ECO:0000269|PubMed:16439621}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|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)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|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)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|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)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|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)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TTGAGGCCTTTCTTACCCAGA	0.552																																							0											0													156	147	150					15																	66727443		2201	4299	6500	SO:0001583	missense	0			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.159T>G	15.37:g.66727443T>G	ENSP00000302486:p.Phe53Leu			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.F53L	ENST00000307102.5	37	c.159	CCDS10216.1	15	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663745	0.88251	.	.	ENSG00000169032	ENST00000307102	D	0.93019	-3.15	5.07	-1.21	0.09524	.	0.000000	0.85682	D	0.000000	D	0.93851	0.8033	M	0.76170	2.325	0.80722	D	1	D;D	0.61080	0.989;0.98	P;P	0.59115	0.852;0.805	D	0.90510	0.4480	10	0.26408	T	0.33	-14.6287	9.9388	0.41567	0.0:0.4644:0.0:0.5356	.	31;53	B4DFY5;Q02750	.;MP2K1_HUMAN	L	53	ENSP00000302486:F53L	ENSP00000302486:F53L	F	+	3	2	MAP2K1	64514497	0.837000	0.29446	0.994000	0.49952	0.969000	0.65631	-0.021000	0.12504	-0.016000	0.14127	0.383000	0.25322	TTT	0	NULL		0.552	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	protein_coding	OTTHUMT00000256906.4	41	182	0	0.00	0	0	T		0	0		66727443	1	no_errors	ENST00000307102	ensembl	human	known	74_37	missense	22	56	63.33	59.71	38	83	SNP	0.995	G	G	66727443	T	G	66727443	3	3	59	1	0	0	0	0	1	0	0	0	9236	1780	62	5	165	5	MAP2K1	15	66727443	Missense_Mutation	SNP	T	TCGA-XM-A8RF-01A-11D-A423-09		66727443	35803949	18	643											
AMDHD2	51005	genome.wustl.edu	37	chr16	2577812	2577812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatcagccgggagaagCggggcgcgcaccccgaggcc	7	3	15	16	5	2	1	2	0	0	1	2	3	2	1	5	4	2	1	5	4	1	1			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr16:2577812C>T	ENST00000293971.6	+	5	548	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	ATP6C_ENST00000569317.1_Missense_Mutation_p.R105W|AMDHD2_ENST00000302956.4_Missense_Mutation_p.R152W|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.R152W|AMDHD2_ENST00000565570.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	152					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CCGGGAGAAGCGGGGCGCGCA	0.692																																							0											0													12	15	14					16																	2577812		2185	4288	6473	SO:0001583	missense	0			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.454C>T	16.37:g.2577812C>T	ENSP00000293971:p.Arg152Trp		B4DL77|Q8WV54	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite	p.R152W	ENST00000293971.6	37	c.454		16	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466186	0.84425	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	D;D;D	0.99933	-8.26;-8.26;-8.26	5.62	5.62	0.85841	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.198417	0.44902	D	0.000414	D	0.99932	0.9969	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.71870	0.975;0.953;0.921	D	0.95702	0.8750	10	0.87932	D	0	-11.2436	12.0392	0.53444	0.2689:0.7311:0.0:0.0	.	152;152;152	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	W	152	ENSP00000391596:R152W;ENSP00000307481:R152W;ENSP00000293971:R152W	ENSP00000293971:R152W	R	+	1	2	AMDHD2	2517813	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.108000	0.50337	2.651000	0.90000	0.561000	0.74099	CGG	0	superfamily_Metal-dep_hydrolase_composite		0.692	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	AMDHD2	protein_coding	OTTHUMT00000435652.1	14	70	0	0.00	0	0	C	NM_015944	0	0		2577812	1	no_errors	ENST00000413459	ensembl	human	known	74_37	missense	2	26	81.82	33.33	9	13	SNP	1	T	T	2577812	C	T	2577812	3	4	59	1	0	0	0	0	1	0	0	0	568	759	27	1	472	1	AMDHD2	16	2577812	Missense_Mutation	SNP	C	TCGA-XM-A8RF-01A-11D-A423-09		2577812	87776941	19	644											
FAM65A	79567	genome.wustl.edu	37	chr16	67575618	67575618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacaaggcctccacagtcaCcaagcgcttctccacctata	12	7	5	17	1	2	0	1	0	1	0	4	0	3	0	5	1	2	1	5	1	5	3			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr16:67575618C>T	ENST00000379312.3	+	12	1146	c.1025C>T	c.(1024-1026)aCc>aTc	p.T342I	FAM65A_ENST00000428437.2_Missense_Mutation_p.T352I|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.T358I|FAM65A_ENST00000042381.4_Missense_Mutation_p.T338I|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.T358I	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	342						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.T338S(1)		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)		TCCACAGTCACCAAGCGCTTC	0.592																																							0											1	Substitution - Missense(1)	ovary(1)											107	103	104					16																	67575618		2198	4300	6498	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1025C>T	16.37:g.67575618C>T	ENSP00000368614:p.Thr342Ile		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.T358I	ENST00000379312.3	37	c.1073	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723030	0.68959	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.02050	4.48;4.48;4.48	4.8	3.82	0.43975	.	0.217050	0.50627	D	0.000112	T	0.01835	0.0058	N	0.08118	0	0.31620	N	0.650379	D;D;D;D	0.56035	0.974;0.974;0.974;0.974	B;P;B;P	0.49140	0.36;0.497;0.36;0.601	T	0.46582	-0.9181	10	0.37606	T	0.19	-20.8064	6.3094	0.21156	0.3355:0.466:0.1985:0.0	.	352;358;342;358	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	I	342;338;358;352	ENSP00000368614:T342I;ENSP00000042381:T338I;ENSP00000400099:T358I	ENSP00000042381:T338I	T	+	2	0	FAM65A	66133119	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.731000	0.38135	2.212000	0.71576	0.561000	0.74099	ACC	0	NULL		0.592	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	protein_coding	OTTHUMT00000268866.3	33	175	0	0.00	0	0	C	NM_024519	0	0		67575618	1	no_errors	ENST00000422602	ensembl	human	known	74_37	missense	20	84	35.48	34.38	11	44	SNP	1	T	T	67575618	C	T	67575618	3	4	59	1	0	0	0	0	1	0	0	0	5599	507	18	3	1055	3	FAM65A	16	67575618	Missense_Mutation	SNP	C	TCGA-XM-A8RF-01A-11D-A423-09	64997806	67575618	22779135	20	645											
KRT26	353288	genome.wustl.edu	37	chr17	38927440	38927440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcggtcagtctggcatTgtcattttgtagaacaatgc	10	13	10	8	1	4	1	3	0	1	1	4	1	4	1	0	2	3	2	0	2	3	4			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr17:38927440T>C	ENST00000335552.4	-	2	538	c.490A>G	c.(490-492)Aat>Gat	p.N164D		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)				AGTCTGGCATTGTCATTTTGT	0.333																																							0											0													45	44	45					17																	38927440		2203	4300	6503	SO:0001583	missense	0			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.490A>G	17.37:g.38927440T>C	ENSP00000334798:p.Asn164Asp			Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.N164D	ENST00000335552.4	37	c.490	CCDS11374.1	17	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333988	0.81801	.	.	ENSG00000186393	ENST00000335552	D	0.89939	-2.59	5.52	4.41	0.53225	Filament (1);	0.000000	0.64402	D	0.000005	D	0.95959	0.8684	H	0.96720	3.87	0.38139	D	0.938381	D	0.69078	0.997	D	0.70016	0.967	D	0.97186	0.9854	10	0.87932	D	0	.	12.0416	0.53456	0.0:0.0:0.1444:0.8555	.	164	Q7Z3Y9	K1C26_HUMAN	D	164	ENSP00000334798:N164D	ENSP00000334798:N164D	N	-	1	0	KRT26	36180966	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.891000	0.69782	0.996000	0.38943	0.533000	0.62120	AAT	0	pfam_IF		0.333	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT26	protein_coding	OTTHUMT00000257215.1	127	191	0	0.00	0	0	T	NM_181539	0	0		38927440	-1	no_errors	ENST00000335552	ensembl	human	known	74_37	missense	119	96	39.29	34.25	77	50	SNP	1	C	C	38927440	T	C	38927440	3	2	59	1	0	0	0	0	1	0	0	0	8463	1812	63	3	944	3	KRT26	17	38927440	Missense_Mutation	SNP	T	TCGA-XM-A8RF-01A-11D-A423-09		38927440	42267770	21	646											
RLN3	117579	genome.wustl.edu	37	chr19	14141521	14141521	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactctgttcatcttttgcaGgagataccttcccggatgca	9	13	8	11	1	3	1	1	0	2	1	4	3	4	2	2	2	4	3	2	2	2	5			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chr19:14141521G>A	ENST00000431365.2	+	2	247		c.e2-1		IL27RA_ENST00000263379.2_5'Flank|RLN3_ENST00000585987.1_Splice_Site|CTB-55O6.4_ENST00000590528.1_RNA	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3							extracellular region (GO:0005576)				endometrium(1)|lung(4)	5						ATCTTTTGCAGGAGATACCTT	0.562																																							0											0													78	80	79					19																	14141521		2203	4300	6503	SO:0001630	splice_region_variant	0			AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"Endogenous ligands"	17135	protein-coding gene	gene with protein product	"prorelaxin H3"	606855	"relaxin 3 (H3)"				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.191-1G>A	19.37:g.14141521G>A			Q6UXW5	Splice_Site	SNP	0	e2-1	ENST00000431365.2	37	c.191-1	CCDS12302.1	19	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289324	0.23478	.	.	ENSG00000171136	ENST00000431365	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7852	0.69796	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RLN3	14002521	1.000000	0.71417	0.763000	0.31416	0.113000	0.19764	4.951000	0.63610	2.223000	0.72356	0.491000	0.48974	.	0	0		0.562	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN3	protein_coding	OTTHUMT00000458529.1	43	92	0	0.00	0	0	G		0	0	Intron	14141521	1	no_errors	ENST00000431365	ensembl	human	known	74_37	splice_site	21	44	30	19.64	9	11	SNP	0.987	A	A	14141521	G	A	14141521	5	1	59	1	0	0	0	0	0	0	1	0	13393	1014	35	3	196	3	RLN3	19	14141521	Splice_Site	SNP	G	TCGA-XM-A8RF-01A-11D-A423-09		14141521	44987462	22	647											
CTPS2	56474	genome.wustl.edu	37	chrX	16711302	16711302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacccctcagtgcgcggaCgctgttttgggtgggtttgg	5	12	15	9	3	1	0	1	0	0	0	1	1	1	1	2	4	2	3	2	4	2	4			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chrX:16711302C>T	ENST00000443824.1	-	6	1344	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	CTPS2_ENST00000380241.3_Missense_Mutation_p.V201I|CTPS2_ENST00000359276.4_Missense_Mutation_p.V201I	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	201					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					AGTGCGCGGACGCTGTTTTGG	0.517																																							0											0													97	83	88					X																	16711302		2203	4300	6503	SO:0001583	missense	0			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.601G>A	X.37:g.16711302C>T	ENSP00000401264:p.Val201Ile		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase	p.V201I	ENST00000443824.1	37	c.601	CCDS14175.1	X	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631394	0.46944	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	T;T;T	0.54866	0.55;0.55;0.55	4.73	4.73	0.59995	CTP synthase, N-terminal (1);	0.000000	0.56097	D	0.000024	T	0.56140	0.1965	M	0.64404	1.975	0.80722	D	1	P	0.36222	0.544	B	0.40199	0.322	T	0.59888	-0.7369	10	0.45353	T	0.12	-18.4262	17.2578	0.87062	0.0:1.0:0.0:0.0	.	201	Q9NRF8	PYRG2_HUMAN	I	201	ENSP00000401264:V201I;ENSP00000369590:V201I;ENSP00000352222:V201I	ENSP00000352222:V201I	V	-	1	0	CTPS2	16621223	1.000000	0.71417	0.995000	0.50966	0.572000	0.35998	5.722000	0.68485	2.085000	0.62840	0.600000	0.82982	GTC	0	pfam_CTP_synthase_N,superfamily_P-loop_NTPase,tigrfam_CTP_synthase		0.517	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS2	protein_coding	OTTHUMT00000055906.1	67	230	0	0.00	0	0	C	NM_019857	0	0		16711302	-1	no_errors	ENST00000359276	ensembl	human	known	74_37	missense	69	124	19.77	20.00	17	31	SNP	1	T	T	16711302	C	T	16711302	3	4	59	1	0	0	0	0	1	0	0	0	4023	536	19	1	1211	1	CTPS2	23	16711302	Missense_Mutation	SNP	C	TCGA-XM-A8RF-01A-11D-A423-09		16711302	138559258	23	648											
DMD	1756	genome.wustl.edu	37	chrX	32482815	32482815	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcagggtttgtatgtgaTtctgaaacgagacccgttat	9	15	10	7	2	3	3	1	2	2	1	3	4	3	3	1	1	1	3	1	1	3	5			TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chrX:32482815T>G	ENST00000357033.4	-	24	3370	c.3164A>C	c.(3163-3165)aAt>aCt	p.N1055T	DMD_ENST00000378677.2_Splice_Site_p.N1051T	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	1055					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)				TTGTATGTGATTCTGAAACGA	0.403																																							0											0													111	85	94					X																	32482815		2202	4300	6502	SO:0001630	splice_region_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3163-1A>C	X.37:g.32482815T>G			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.N1055T	ENST00000357033.4	37	c.3164	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	11.11	1.541206	0.27563	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.49720	0.77;0.77	4.58	4.58	0.56647	.	0.000000	0.33309	U	0.005043	T	0.60104	0.2243	M	0.68317	2.08	0.80722	D	1	P;D;P	0.56968	0.906;0.978;0.924	P;P;P	0.61275	0.677;0.886;0.784	T	0.57619	-0.7780	10	0.15952	T	0.53	.	13.4366	0.61088	0.0:0.0:0.0:1.0	.	1047;1055;1051	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	T	1047;1051;1055;1055;932	ENSP00000367948:N1051T;ENSP00000354923:N1055T	ENSP00000354923:N1055T	N	-	2	0	DMD	32392736	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.647000	0.83462	1.613000	0.50231	0.376000	0.23039	AAT	0	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.403	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	69	364	0	0.00	0	0	T	NM_004006	0	0	Missense_Mutation	32482815	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	57	147	44.66	37.18	46	87	SNP	1	G	G	32482815	T	G	32482815	5	3	59	1	0	0	0	0	0	0	1	0	4580	1507	52	5	8360	5	DMD	23	32482815	Splice_Site	SNP	T	TCGA-XM-A8RF-01A-11D-A423-09	15771513	32482815	122787745	24	649											
CCDC22	28952	genome.wustl.edu	37	chrX	49106160	49106160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacacaggcaccatcatgCgggaggttcgagacctcgag	11	5	14	11	3	1	1	1	0	0	1	3	5	1	3	2	4	1	2	2	4	0	1	rs201021614		TCGA-XM-A8RF-01A-11D-A423-09	TCGA-XM-A8RF-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2671e3eb-3719-4b12-9cda-fd4f03999e93	87fd64b3-7a52-4876-ab3d-ca465f60355b	g.chrX:49106160C>T	ENST00000376227.3	+	16	1914	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	582										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CACCATCATGCGGGAGGTTCG	0.642																																							0											0													43	35	38					X																	49106160		2203	4299	6502	SO:0001583	missense	0			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.1744C>T	X.37:g.49106160C>T	ENSP00000365401:p.Arg582Trp		A8K7G1	Missense_Mutation	SNP	pfam_DUF812	p.R582W	ENST00000376227.3	37	c.1744	CCDS14322.1	X	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887291	0.52014	.	.	ENSG00000101997	ENST00000376227	.	.	.	5.38	-0.277	0.12898	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.54323	1.7	0.52099	D	0.999943	P	0.39624	0.681	B	0.33690	0.168	T	0.30534	-0.9975	9	0.59425	D	0.04	-15.5126	10.282	0.43545	0.5791:0.3091:0.1118:0.0	.	582	O60826	CCD22_HUMAN	W	582	.	ENSP00000365401:R582W	R	+	1	2	CCDC22	48993104	0.988000	0.35896	0.973000	0.42090	0.987000	0.75469	0.238000	0.18004	-0.184000	0.10567	0.429000	0.28392	CGG	0	pfam_DUF812		0.642	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	protein_coding	OTTHUMT00000060822.1	121	63	0	0.00	0	0	C	NM_014008	rs201021614	C->A,T		49106160	1	no_errors	ENST00000376227	ensembl	human	known	74_37	missense	24	31	38.46	21.95	15	9	SNP	0.998	T	T	49106160	C	T	49106160	3	4	59	1	0	0	0	0	1	0	0	0	2797	759	27	1	1806	1	CCDC22	23	49106160	Missense_Mutation	SNP	C	TCGA-XM-A8RF-01A-11D-A423-09	16623345	49106160	106164400	25	650											
KIAA0754	643314	genome.wustl.edu	37	chr1	39878977	39878977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaccccagaggagcccAcctccccagctgctgcagtg	7	5	10	19	0	0	1	0	0	0	1	1	2	1	2	7	1	5	3	7	1	0	0	rs783821		TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr1:39878977A>G	ENST00000530275.1	+	1	2827	c.2632A>G	c.(2632-2634)Acc>Gcc	p.T878A	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	878	Ala-rich.									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)			AGAGGAGCCCACCTCCCCAGC	0.692																																							0											0													7	9	8					1																	39878977		1823	4015	5838	SO:0001583	missense	0					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.2632A>G	1.37:g.39878977A>G	ENSP00000431179:p.Thr878Ala		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.T878A	ENST00000530275.1	37	c.2632		1	.	.	.	.	.	.	.	.	.	.	a	0.233	-1.019228	0.02078	.	.	ENSG00000255103	ENST00000530275	T	0.21734	1.99	4.23	-5.22	0.02806	.	.	.	.	.	T	0.06600	0.0169	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38134	-0.9675	9	0.28530	T	0.3	.	6.9272	0.24422	0.5061:0.0:0.3795:0.1144	rs783821	878	O94854	K0754_HUMAN	A	878	ENSP00000431179:T878A	ENSP00000431179:T878A	T	+	1	0	RP4-562N20.1	39651564	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.893000	0.04127	-0.886000	0.03966	-1.316000	0.01300	ACC	0	NULL		0.692	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	protein_coding	OTTHUMT00000392100.1	51	16	1.89	0.00	1	0	A	NM_015038	rs783821	A->G		39878977	1	no_errors	ENST00000530275	ensembl	human	known	74_37	missense	28	2	17.14	0.00	6	0	SNP	0	G	G	39878977	A	G	39878977	3	3	60	1	0	0	0	0	1	0	0	0	8192	159	6	3	3042	3	KIAA0754	1	39878977	Missense_Mutation	SNP	A	TCGA-XM-A8RG-01A-11D-A423-09		39878977	209371644	1	651											
PLA2R1	22925	genome.wustl.edu	37	chr2	160918876	160918878	+	In_Frame_Del	DEL	CAG	CAG	-																															gcgcagccccgcggcgccccCagcagcagcagcagcagcag																										TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr2:160918876_160918878delCAG	ENST00000283243.7	-	1	243_245	c.37_39delCTG	c.(37-39)ctgdel	p.L13del	PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	13					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						GCGGCGCCCCcagcagcagcagc	0.729																																							0											0									,,	16,82,2566		4,0,8,17,48,1255					,,	-3.1	0			4	2,158,4972		0,1,1,22,113,2429	no	codingComplex,codingComplex,codingComplex	PLA2R1	NM_007366.4,NM_001195641.1,NM_001007267.2	,,	4,1,9,39,161,3684	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1177,3.6787,3.3094	,,	,,		18,240,7538				SO:0001651	inframe_deletion	0			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.37_39delCTG	2.37:g.160918885_160918887delCAG	ENSP00000283243:p.Leu13del		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	In_Frame_Del	DEL	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.L13in_frame_del	ENST00000283243.7	37	c.39_37	CCDS33309.1	2																																																																																			0	NULL		0.729	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	protein_coding	OTTHUMT00000333820.1	58	12	1.69	0.00	1	0	CAG		0	0		160918878	-1	no_errors	ENST00000283243	ensembl	human	known	74_37	in_frame_del	34	4	10.53	0.00	4	0	DEL	0.922:0.939:0.961	0	-	160918878	CAG	-	160918876	7	5	60	1	0	1	0	1	0	0	0	0	12010	581	21	0	4480	0	PLA2R1	2	160918876	In_Frame_Del	DEL	CAG	TCGA-XM-A8RG-01A-11D-A423-09		160918876	82280497	2	652											
TTN	7273	genome.wustl.edu	37	chr2	179584492	179584492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttccagtcactacacaCtctaatgcaaaaggatttcc	12	11	7	11	0	2	0	1	0	1	0	4	1	4	1	2	2	2	2	2	2	4	4			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr2:179584492C>A	ENST00000591111.1	-	80	23000	c.22776G>T	c.(22774-22776)gaG>gaT	p.E7592D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E6665D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E7909D|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13143	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)			TCACTACACACTCTAATGCAA	0.393																																							0											0													121	111	114					2																	179584492		1880	4109	5989	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22776G>T	2.37:g.179584492C>A	ENSP00000465570:p.Glu7592Asp		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.E6665D	ENST00000591111.1	37	c.19995		2	.	.	.	.	.	.	.	.	.	.	C	6.731	0.503600	0.12822	.	.	ENSG00000155657	ENST00000342992	T	0.68479	-0.33	6.08	-3.52	0.04682	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68100	0.2964	M	0.81682	2.555	0.80722	D	1	B	0.24483	0.104	B	0.30855	0.121	T	0.60777	-0.7196	9	0.87932	D	0	.	14.9785	0.71293	0.0:0.437:0.0:0.563	.	7592	Q8WZ42	TITIN_HUMAN	D	6665	ENSP00000343764:E6665D	ENSP00000343764:E6665D	E	-	3	2	TTN	179292737	0.011000	0.17503	0.673000	0.29887	0.701000	0.40568	-1.017000	0.03630	-1.209000	0.02631	-0.797000	0.03246	GAG	0	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	16	323	0	0.00	0	0	C	NM_133378	0	0		179584492	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	9	91	60.87	52.60	14	101	SNP	0.097	A	A	179584492	C	A	179584492	3	1	60	1	0	0	0	0	1	0	0	0	16732	564	20	5	80926	5	TTN	2	179584492	Missense_Mutation	SNP	C	TCGA-XM-A8RG-01A-11D-A423-09	18665616	179584492	63614881	3	653											
SCN5A	6331	genome.wustl.edu	37	chr3	38622694	38622694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcttctgaggccgctgccGcaggagaccacagcagaaat	10	5	14	12	2	1	3	0	1	1	2	1	4	1	3	3	3	2	4	3	3	1	1	rs561547165	byFrequency	TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr3:38622694G>A	ENST00000333535.4	-	17	3105	c.2956C>T	c.(2956-2958)Cgg>Tgg	p.R986W	SCN5A_ENST00000455624.2_Missense_Mutation_p.R986W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R986W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R986W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R986W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R986W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R986W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R986W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R986W|SCN5A_ENST00000413689.1_Missense_Mutation_p.R986W			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	986					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)	GGCCGCTGCCGCAGGAGACCA	0.672													G|||	2	0.000399361	0	0	5008	,	,		14047	0.002		0	False		,,,				2504	0						0.9996,0.0003994											0													13	15	15					3																	38622694		1935	4127	6062	SO:0001583	missense	0			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.2956C>T	3.37:g.38622694G>A	ENSP00000328968:p.Arg986Trp		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.R986W	ENST00000333535.4	37	c.2956	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745179	0.49151	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	4.99	4.08	0.47627	Sodium ion transport-associated (1);	0.613382	0.14521	N	0.314484	D	0.85801	0.5781	L	0.49126	1.545	0.20764	N	0.999854	B;D;B;B;B;D;P	0.63880	0.002;0.964;0.007;0.002;0.002;0.993;0.927	B;P;B;B;B;P;B	0.51945	0.002;0.636;0.001;0.002;0.002;0.685;0.292	T	0.77300	-0.2639	10	0.37606	T	0.19	.	13.3129	0.60390	0.0:0.0:0.7188:0.2812	.	986;986;986;986;986;986;986	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	W	986	ENSP00000398962:R986W;ENSP00000398266:R986W;ENSP00000410257:R986W;ENSP00000388797:R986W;ENSP00000397915:R986W;ENSP00000416634:R986W;ENSP00000328968:R986W;ENSP00000399524:R986W;ENSP00000403355:R986W;ENSP00000413996:R986W	ENSP00000328968:R986W	R	-	1	2	SCN5A	38597698	0.001000	0.12720	0.993000	0.49108	0.898000	0.52572	0.623000	0.24447	2.329000	0.79093	0.561000	0.74099	CGG	0	pfam_Na_trans_assoc,prints_Na_channel_a5su		0.672	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	protein_coding	OTTHUMT00000377958.1	47	23	0	0.00	0	0	G	NM_198056	rs561547165	G->A		38622694	-1	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	14	6	57.58	53.85	19	7	SNP	0.262	A	A	38622694	G	A	38622694	3	1	60	1	0	0	0	0	1	0	0	0	13922	1086	38	1	3142	1	SCN5A	3	38622694	Missense_Mutation	SNP	G	TCGA-XM-A8RG-01A-11D-A423-09		38622694	159399736	4	654											
RHOA	387	genome.wustl.edu	37	chr3	49400049	49400049	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctggggtccacttttcTgggatgttttctgaaagaaa	9	15	10	7	0	3	2	0	1	3	1	4	3	4	3	1	3	0	1	1	3	2	5			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr3:49400049T>G	ENST00000418115.1	-	4	672	c.288A>C	c.(286-288)ccA>ccC	p.P96P	RHOA_ENST00000454011.2_Missense_Mutation_p.Q56P|RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000422781.1_Silent_p.P96P	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	96					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)		TCCACTTTTCTGGGATGTTTT	0.433																																							0											0													83	80	81					3																	49400049		2203	4300	6503	SO:0001819	synonymous_variant	0			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.288A>C	3.37:g.49400049T>G			P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q56P	ENST00000418115.1	37	c.167	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562826	0.45694	.	.	ENSG00000067560	ENST00000454011	T	0.25250	1.81	5.83	3.52	0.40303	.	.	.	.	.	T	0.25531	0.0621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02713	-1.1120	5	.	.	.	.	5.1527	0.15019	0.1443:0.1266:0.0:0.7291	.	.	.	.	P	56	ENSP00000394483:Q56P	.	Q	-	2	0	RHOA	49375053	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.582000	0.23834	2.235000	0.73313	0.533000	0.62120	CAG	0	smart_Small_GTPase_Rho		0.433	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	protein_coding	OTTHUMT00000346157.3	104	287	0	0.00	0	0	T	NM_001664	0	0		49400049	-1	no_errors	ENST00000454011	ensembl	human	putative	74_37	missense	34	111	44.44	38.33	28	69	SNP	1	G	G	49400049	T	G	49400049	2	3	60	1	0	0	0	0	0	0	0	1	13331	1567	55	5		5	RHOA	3	49400049	Silent	SNP	T	TCGA-XM-A8RG-01A-11D-A423-09	10777355	49400049	148622381	5	655											
HIST1H3F	8968	genome.wustl.edu	37	chr6	26250543	26250543	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccccaccaggtaagcctcGcaggcctcctgcagcgccat	8	5	10	18	2	0	0	0	0	0	0	2	0	1	0	7	2	4	3	7	2	1	1			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr6:26250543G>A	ENST00000446824.2	-	1	292	c.291C>T	c.(289-291)tgC>tgT	p.C97C	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	97					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)			lung(6)|urinary_tract(1)	7						GGTAAGCCTCGCAGGCCTCCT	0.607											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													102	101	101					6																	26250543		2203	4300	6503	SO:0001819	synonymous_variant	0			Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"Histones / Replication-dependent"	4773	protein-coding gene	gene with protein product		602816	"H3 histone family, member I", "histone 1, H3f"	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.291C>T	6.37:g.26250543G>A		785	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.C97	ENST00000446824.2	37	c.291	CCDS4600.1	6																																																																																			0	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.607	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3F	protein_coding	OTTHUMT00000040098.1	110	73	0	0.00	0	0	G	NM_021018	0	0		26250543	-1	no_errors	ENST00000446824	ensembl	human	known	74_37	silent	37	15	51.32	42.31	39	11	SNP	1	A	A	26250543	G	A	26250543	2	1	60	1	0	0	0	0	0	0	0	1	7160	1079	38	1		1	HIST1H3F	6	26250543	Silent	SNP	G	TCGA-XM-A8RG-01A-11D-A423-09		26250543	144864524	6	656											
NOTCH4	4855	genome.wustl.edu	37	chr6	32185850	32185850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcagggagctgaggcacactCgttggtctccacctcacaga	9	7	12	13	1	2	2	1	1	1	1	4	3	2	3	2	3	1	4	2	3	0	1			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr6:32185850C>G	ENST00000375023.3	-	9	1684	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	516	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						GAGGCACACTCGTTGGTCTCC	0.607																																							0											0													136	90	106					6																	32185850		2203	4300	6503	SO:0001583	missense	0				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.1546G>C	6.37:g.32185850C>G	ENSP00000364163:p.Glu516Gln		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.E516Q	ENST00000375023.3	37	c.1546	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184985	0.57909	.	.	ENSG00000204301	ENST00000375023	T	0.67698	-0.28	4.21	4.21	0.49690	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.44688	D	0.000437	T	0.78130	0.4235	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.937	T	0.81718	-0.0805	10	0.72032	D	0.01	.	14.0806	0.64919	0.0:1.0:0.0:0.0	.	516;516	Q6P3V5;Q99466	.;NOTC4_HUMAN	Q	516	ENSP00000364163:E516Q	ENSP00000364163:E516Q	E	-	1	0	NOTCH4	32293828	1.000000	0.71417	0.910000	0.35882	0.026000	0.11368	6.703000	0.74633	2.166000	0.68216	0.462000	0.41574	GAG	0	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	protein_coding	OTTHUMT00000076045.2	56	116	0	0.00	0	0	C		0	0		32185850	-1	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	20	25	35.48	47.92	11	23	SNP	1	G	G	32185850	C	G	32185850	3	3	60	1	0	0	0	0	1	0	0	0	10551	893	31	5	4553	5	NOTCH4	6	32185850	Missense_Mutation	SNP	C	TCGA-XM-A8RG-01A-11D-A423-09	5935307	32185850	138929217	7	657											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	312	142	0	0.69	0	1	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	271	52	42.86	43.48	204	40	SNP	1	A	A	74146970	T	A	74146970	3	1	60	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-XM-A8RG-01A-11D-A423-09		74146970	84991693	8	658											
NEFM	4741	genome.wustl.edu	37	chr8	24774812	24774812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattacagaggaattggccGtttccatgaaggaagagaag	14	8	12	7	1	0	3	0	1	0	2	1	6	1	5	3	3	1	1	3	3	5	3	rs61751047	byFrequency	TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr8:24774812G>T	ENST00000221166.5	+	3	2226	c.1444G>T	c.(1444-1446)Gtt>Ttt	p.V482F	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.V482F|NEFM_ENST00000518131.1_Missense_Mutation_p.V482F|NEFM_ENST00000433454.2_Missense_Mutation_p.V106F|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	482	Tail.			V -> A (in Ref. 1; CAA68276). {ECO:0000305}.	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)		GGAATTGGCCGTTTCCATgaa	0.458																																							0											0													51	52	52					8																	24774812		2203	4300	6503	SO:0001583	missense	0			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.1444G>T	8.37:g.24774812G>T	ENSP00000221166:p.Val482Phe		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.V482F	ENST00000221166.5	37	c.1444	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	1.649	-0.514555	0.04200	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.93763	-1.69;-1.71;-1.66;-3.28	4.65	1.68	0.24146	.	0.326617	0.21428	N	0.074707	D	0.90270	0.6957	M	0.76838	2.35	0.09310	N	1	B;P	0.34780	0.086;0.468	B;B	0.28916	0.022;0.096	D	0.84058	0.0373	10	0.72032	D	0.01	.	6.4158	0.21715	0.2223:0.0:0.6495:0.1282	.	482;482	E7EMV2;P07197	.;NFM_HUMAN	F	482;482;482;106	ENSP00000221166:V482F;ENSP00000427872:V482F;ENSP00000410137:V482F;ENSP00000412295:V106F	ENSP00000221166:V482F	V	+	1	0	NEFM	24830717	0.120000	0.22244	0.037000	0.18230	0.069000	0.16628	1.785000	0.38684	0.499000	0.27970	-1.402000	0.01139	GTT	0	NULL		0.458	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	protein_coding	OTTHUMT00000254954.2	30	136	0	0.00	0	0	G	NM_005382	0	0		24774812	1	no_errors	ENST00000221166	ensembl	human	known	74_37	missense	51	75	41.38	34.78	36	40	SNP	0.001	T	T	24774812	G	T	24774812	3	4	60	1	0	0	0	0	1	0	0	0	10316	1145	40	5	1454	5	NEFM	8	24774812	Missense_Mutation	SNP	G	TCGA-XM-A8RG-01A-11D-A423-09		24774812	121589210	9	659											
FER1L6	654463	genome.wustl.edu	37	chr8	125107171	125107171	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatgaacacctggccctCaaggttttacactcttggga	9	13	8	11	0	3	1	1	1	2	0	3	2	3	2	2	3	2	1	2	3	4	4			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr8:125107171C>A	ENST00000522917.1	+	35	4793	c.4587C>A	c.(4585-4587)ctC>ctA	p.L1529L	FER1L6_ENST00000399018.1_Silent_p.L1529L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1529						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)			ACCTGGCCCTCAAGGTTTTAC	0.502																																							0											0													97	89	92					8																	125107171		1901	4127	6028	SO:0001819	synonymous_variant	0			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.4587C>A	8.37:g.125107171C>A				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.L1529	ENST00000522917.1	37	c.4587	CCDS43767.1	8																																																																																			0	NULL		0.502	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	protein_coding	OTTHUMT00000381400.1	53	191	0	0.00	0	0	C	NM_001039112	0	0		125107171	1	no_errors	ENST00000399018	ensembl	human	known	74_37	silent	23	49	48.89	53.33	22	56	SNP	1	A	A	125107171	C	A	125107171	2	1	60	1	0	0	0	0	0	0	0	1	5815	813	29	5		5	FER1L6	8	125107171	Silent	SNP	C	TCGA-XM-A8RG-01A-11D-A423-09	100332359	125107171	21256851	10	660											
HRAS	3265	genome.wustl.edu	37	chr11	533877	533877	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcgctgtactcctcctggCcggcggtatccaggatgtcc	4	10	13	14	3	0	0	0	0	0	0	4	1	4	1	5	5	1	3	5	5	2	2			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr11:533877C>A	ENST00000451590.1	-	3	366	c.179G>T	c.(178-180)gGc>gTc	p.G60V	HRAS_ENST00000417302.1_Missense_Mutation_p.G60V|HRAS_ENST00000397594.1_Missense_Mutation_p.G60V|HRAS_ENST00000311189.7_Missense_Mutation_p.G60V|HRAS_ENST00000397596.2_Missense_Mutation_p.G60V|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	60					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;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)		CTCCTCCTGGCCGGCGGTATC	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	0													117	102	107					11																	533877		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.179G>T	11.37:g.533877C>A	ENSP00000407586:p.Gly60Val		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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.G60V	ENST00000451590.1	37	c.179	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559937	0.65538	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99100	1.0843	10	0.87932	D	0	.	14.8426	0.70237	0.0:1.0:0.0:0.0	.	60;60	P01112-2;P01112	.;RASH_HUMAN	V	60	ENSP00000380722:G60V;ENSP00000380723:G60V;ENSP00000407586:G60V;ENSP00000388246:G60V;ENSP00000309845:G60V	ENSP00000309845:G60V	G	-	2	0	HRAS	523877	1.000000	0.71417	0.971000	0.41717	0.366000	0.29705	7.514000	0.81750	2.045000	0.60652	0.561000	0.74099	GGC	0	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		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	40	219	0	0.00	0	0	C	NM_176795	0	0		533877	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	12	54	60.61	55.37	20	67	SNP	1	A	A	533877	C	A	533877	3	1	60	1	0	0	0	0	1	0	0	0	7348	739	26	5	469	5	HRAS	11	533877	Missense_Mutation	SNP	C	TCGA-XM-A8RG-01A-11D-A423-09		533877	134472639	11	661											
TRPM5	29850	genome.wustl.edu	37	chr11	2443403	2443403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgccttcaccagccccttgCgcagcacatcccgcagccag	7	5	8	21	3	1	0	1	0	0	0	2	0	2	0	7	0	4	3	7	0	0	2			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr11:2443403C>T	ENST00000155858.6	-	2	274	c.266G>A	c.(265-267)cGc>cAc	p.R89H	TRPM5_ENST00000533060.1_Missense_Mutation_p.R89H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R89H|TRPM5_ENST00000452833.1_Missense_Mutation_p.R89H	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)		CAGCCCCTTGCGCAGCACATC	0.697																																					NSCLC(1;49 61 17205 18850 43201)		0											0													36	35	35					11																	2443403		2202	4298	6500	SO:0001583	missense	0			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.266G>A	11.37:g.2443403C>T	ENSP00000155858:p.Arg89His			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.R89H	ENST00000155858.6	37	c.266	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	c	19.06	3.754425	0.69648	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0	2.79	2.79	0.32731	.	0.085571	0.40222	U	0.001145	T	0.15046	0.0363	M	0.73962	2.25	0.34454	D	0.701025	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.975;0.975;0.992	T	0.13124	-1.0521	10	0.62326	D	0.03	-10.9962	11.7816	0.52018	0.0:1.0:0.0:0.0	.	89;89;89	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	H	81;89;89;89;89;89	ENSP00000434383:R81H;ENSP00000155858:R89H;ENSP00000387965:R89H;ENSP00000434121:R89H;ENSP00000436809:R89H	ENSP00000155858:R89H	R	-	2	0	TRPM5	2399979	0.305000	0.24481	0.976000	0.42696	0.541000	0.35023	2.617000	0.46385	1.897000	0.54924	0.586000	0.80456	CGC	0	NULL		0.697	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	protein_coding	OTTHUMT00000027378.1	42	66	0	0.00	0	0	C	NM_014555	0	0		2443403	-1	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	14	18	44	40.00	11	12	SNP	0.999	T	T	2443403	C	T	2443403	3	4	60	1	0	0	0	0	1	0	0	0	16586	768	27	1	3323	1	TRPM5	11	2443403	Missense_Mutation	SNP	C	TCGA-XM-A8RG-01A-11D-A423-09	1909526	2443403	132563113	12	662											
UNC93B1	81622	genome.wustl.edu	37	chr11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagcgtcaccagcagcaCcgccagcttagcctgggcgt	8	5	11	17	3	1	0	1	0	0	0	1	0	1	0	5	1	5	3	5	1	1	1	rs4014596		TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					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)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																							0											1	Substitution - Missense(1)	skin(1)											2	2	2					11																	67759316		806	1754	2560	SO:0001583	missense	0			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.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V498M	ENST00000227471.2	37	c.1492		11	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG	0	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		28	0	0	0.00	0	0	C	NM_030930	rs4014596	C->T		67759316	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	37	0	9.76	0.00	4	0	SNP	0.997	T	T	67759316	C	T	67759316	3	4	60	1	0	0	0	0	1	0	0	0	16994	507	18	3	302	3	UNC93B1	11	67759316	Missense_Mutation	SNP	C	TCGA-XM-A8RG-01A-11D-A423-09	65315913	67759316	67247200	13	663											
RNF6	6049	genome.wustl.edu	37	chr13	26789705	26789705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagaagagaatcttcatgtGaactttctctagggacttct	11	14	8	8	0	4	3	1	1	3	2	5	5	4	4	0	1	1	0	0	1	5	5			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr13:26789705G>A	ENST00000381588.4	-	5	1066	c.314C>T	c.(313-315)tCa>tTa	p.S105L	RNF6_ENST00000346166.3_Missense_Mutation_p.S105L|RNF6_ENST00000381570.3_Missense_Mutation_p.S105L|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000399762.2_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	105					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ATCTTCATGTGAACTTTCTCT	0.398																																							0											0													44	38	40					13																	26789705		2202	4299	6501	SO:0001583	missense	0			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.314C>T	13.37:g.26789705G>A	ENSP00000371000:p.Ser105Leu		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S105L	ENST00000381588.4	37	c.314	CCDS9316.1	13	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828187	0.90955	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.11930	2.73;2.73;2.73	4.59	4.59	0.56863	.	0.178200	0.38492	N	0.001671	T	0.30008	0.0751	M	0.71036	2.16	0.80722	D	1	D;P	0.56035	0.974;0.928	P;P	0.52957	0.707;0.714	T	0.10245	-1.0638	10	0.87932	D	0	-1.2982	17.5781	0.87957	0.0:0.0:1.0:0.0	.	105;105	Q9Y252;Q9BZP5	RNF6_HUMAN;.	L	105	ENSP00000342121:S105L;ENSP00000371000:S105L;ENSP00000370982:S105L	ENSP00000342121:S105L	S	-	2	0	RNF6	25687705	1.000000	0.71417	0.025000	0.17156	0.906000	0.53458	8.986000	0.93492	2.387000	0.81309	0.557000	0.71058	TCA	0	NULL		0.398	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	protein_coding	OTTHUMT00000044246.2	49	231	0	0.43	0	1	G	NM_005977	0	0		26789705	-1	no_errors	ENST00000346166	ensembl	human	known	74_37	missense	26	50	36.59	51.92	15	54	SNP	0.992	A	A	26789705	G	A	26789705	3	1	60	1	0	0	0	0	1	0	0	0	13498	1294	45	3	1747	3	RNF6	13	26789705	Missense_Mutation	SNP	G	TCGA-XM-A8RG-01A-11D-A423-09		26789705	88380173	14	664											
JPH3	57338	genome.wustl.edu	37	chr16	87723875	87723875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaagggcggcgcctgcCggggcttgggggacgaccac	7	3	18	13	4	0	0	0	0	0	0	0	2	0	1	3	6	2	2	3	6	1	1			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr16:87723875C>T	ENST00000284262.2	+	4	2151	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	637					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)		CGGCGCCTGCCGGGGCTTGGG	0.647																																							0											0													11	12	12					16																	87723875		2172	4276	6448	SO:0001583	missense	0			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.1909C>T	16.37:g.87723875C>T	ENSP00000284262:p.Arg637Trp		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.R637W	ENST00000284262.2	37	c.1909	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793413	0.31685	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.50001	0.76	4.42	4.42	0.53409	.	0.168474	0.38217	N	0.001771	T	0.35098	0.0920	L	0.27053	0.805	0.42198	D	0.991754	B	0.09022	0.002	B	0.01281	0.0	T	0.25676	-1.0125	10	0.66056	D	0.02	.	11.9	0.52678	0.1868:0.8132:0.0:0.0	.	637	Q8WXH2	JPH3_HUMAN	W	500;637	ENSP00000284262:R637W	ENSP00000284262:R637W	R	+	1	2	JPH3	86281376	1.000000	0.71417	0.773000	0.31616	0.140000	0.21249	2.776000	0.47709	2.020000	0.59435	0.655000	0.94253	CGG	0	pirsf_Junctophilin		0.647	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	protein_coding	OTTHUMT00000269108.2	74	81	0	0.00	0	0	C		0	0		87723875	1	no_errors	ENST00000284262	ensembl	human	known	74_37	missense	36	24	45.45	31.43	30	11	SNP	1	T	T	87723875	C	T	87723875	3	4	60	1	0	0	0	0	1	0	0	0	7962	643	23	2	1923	2	JPH3	16	87723875	Missense_Mutation	SNP	C	TCGA-XM-A8RG-01A-11D-A423-09		87723875	2630878	15	665											
WDR18	57418	genome.wustl.edu	37	chr19	991253	991253	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtgacttgcctgtcagtgtCcactgacggcagcgtgctgc	5	10	14	12	2	1	2	1	2	0	0	2	2	2	2	2	2	4	2	2	2	0	1			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr19:991253C>G	ENST00000251289.5	+	7	856	c.833C>G	c.(832-834)tCc>tGc	p.S278C	WDR18_ENST00000587001.2_Missense_Mutation_p.S278C	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	278					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)		CTGTCAGTGTCCACTGACGGC	0.662																																							0											0													48	33	38					19																	991253		2181	4280	6461	SO:0001583	missense	0				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.833C>G	19.37:g.991253C>G	ENSP00000251289:p.Ser278Cys		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.S278C	ENST00000251289.5	37	c.833	CCDS12051.1	19	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539212	0.65085	.	.	ENSG00000065268	ENST00000251289	T	0.66280	-0.2	3.9	3.9	0.45041	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.122777	0.56097	D	0.000024	T	0.77370	0.4120	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81226	-0.1029	10	0.87932	D	0	.	15.0418	0.71796	0.0:1.0:0.0:0.0	.	278	Q9BV38	WDR18_HUMAN	C	278	ENSP00000251289:S278C	ENSP00000251289:S278C	S	+	2	0	WDR18	942253	1.000000	0.71417	0.956000	0.39512	0.236000	0.25371	7.350000	0.79385	2.012000	0.59069	0.591000	0.81541	TCC	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.662	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR18	protein_coding	OTTHUMT00000458225.2	22	50	0	0.00	0	0	C		0	0		991253	1	no_errors	ENST00000251289	ensembl	human	known	74_37	missense	13	4	45.83	55.56	11	5	SNP	1	G	G	991253	C	G	991253	3	3	60	1	0	0	0	0	1	0	0	0	17275	855	30	5	859	5	WDR18	19	991253	Missense_Mutation	SNP	C	TCGA-XM-A8RG-01A-11D-A423-09		991253	58137730	16	666											
PPP2R1A	5518	genome.wustl.edu	37	chr19	52716021	52716021	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggggagtttgccaaggtgCtggagctggacaacgtcaag	9	8	17	7	1	1	0	1	0	0	0	1	3	1	3	1	5	4	3	1	5	3	1			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr19:52716021C>G	ENST00000322088.6	+	5	644	c.586C>G	c.(586-588)Ctg>Gtg	p.L196V	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.L17V|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.L141V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	196	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)			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)		TGCCAAGGTGCTGGAGCTGGA	0.622			Mis		clear cell ovarian carcinoma																																		0		Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0													136	101	113					19																	52716021		2203	4300	6503	SO:0001583	missense	0				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.586C>G	19.37:g.52716021C>G	ENSP00000324804:p.Leu196Val		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L196V	ENST00000322088.6	37	c.586	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	C	5.107	0.205311	0.09704	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.07021	3.23;3.23	4.5	3.47	0.39725	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.47455	D	0.000230	T	0.02455	0.0075	N	0.02345	-0.59	0.45464	D	0.998437	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.004	T	0.36114	-0.9761	10	0.05351	T	0.99	-14.1569	6.8319	0.23915	0.0:0.7962:0.0:0.2038	.	141;196;196	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	V	186;116;196;141	ENSP00000324804:L196V;ENSP00000415067:L141V	ENSP00000324804:L196V	L	+	1	2	PPP2R1A	57407833	0.632000	0.27172	1.000000	0.80357	0.999000	0.98932	0.564000	0.23563	1.259000	0.44117	0.655000	0.94253	CTG	0	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.622	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	protein_coding	OTTHUMT00000267967.2	86	233	0	0.00	0	0	C	NM_014225	0	0		52716021	1	no_errors	ENST00000322088	ensembl	human	known	74_37	missense	32	61	55.56	51.20	40	64	SNP	1	G	G	52716021	C	G	52716021	3	3	60	1	0	0	0	0	1	0	0	0	12382	796	28	5	604	5	PPP2R1A	19	52716021	Missense_Mutation	SNP	C	TCGA-XM-A8RG-01A-11D-A423-09	51724768	52716021	6412962	17	667											
GFPT2	9945	genome.wustl.edu	37	chr5	179731776	179731776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagagccctcacctggCgggccgtgacttgctgcagg	6	7	16	12	2	1	2	1	1	0	1	1	3	1	2	3	4	3	2	3	4	0	1			TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr5:179731776C>T	ENST00000253778.8	-	17	2007	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	613	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-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)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCTCACCTGGCGGGCCGTGAC	0.582																																							0											0													125	141	136					5																	179731776		2054	4194	6248	SO:0001583	missense	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1838G>A	5.37:g.179731776C>T	ENSP00000253778:p.Arg613His		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.R613H	ENST00000253778.8	37	c.1838	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456809	0.84317	.	.	ENSG00000131459	ENST00000253778	T	0.69040	-0.37	5.75	5.75	0.90469	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	H	0.98833	4.345	0.80722	D	1	B	0.30361	0.277	B	0.33042	0.157	D	0.85438	0.1153	9	.	.	.	-27.1396	19.9421	0.97168	0.0:1.0:0.0:0.0	.	613	O94808	GFPT2_HUMAN	H	613	ENSP00000253778:R613H	.	R	-	2	0	GFPT2	179664382	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.711000	0.84669	2.714000	0.92807	0.561000	0.74099	CGC	0	pfam_SIS,tigrfam_GlmS_trans		0.582	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	protein_coding	OTTHUMT00000373444.4	28	132	0	0.00	0	0	C	NM_005110	0	0		179731776	-1	no_errors	ENST00000253778	ensembl	human	known	74_37	missense	36	93	10	7.92	4	8	SNP	1	T	T	179731776	C	T	179731776	3	4	61	1	0	0	0	0	1	0	0	0	6346	768	27	1	222	1	GFPT2	5	179731776	Missense_Mutation	SNP	C	TCGA-XM-A8RH-01A-11D-A423-09		179731776	1183484	1	668											
LRRC27	80313	genome.wustl.edu	37	chr10	134169314	134169314	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaagggcactgcaggAgtggagagagcgagcccaga	15	2	17	7	1	0	3	0	0	0	3	0	8	0	5	1	3	3	2	1	3	2	0			TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr10:134169314A>G	ENST00000368614.3	+	8	1199	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	LRRC27_ENST00000432555.2_Missense_Mutation_p.E238G|LRRC27_ENST00000368610.3_Missense_Mutation_p.E303G|LRRC27_ENST00000368612.1_Missense_Mutation_p.E303G|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.E365G	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	365										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-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;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCACTGCAGGAGTGGAGAGAG	0.567																																							0											0													86	72	77					10																	134169314		2171	4247	6418	SO:0001583	missense	0			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1094A>G	10.37:g.134169314A>G	ENSP00000357603:p.Glu365Gly		A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E365G	ENST00000368614.3	37	c.1094	CCDS31316.1	10	.	.	.	.	.	.	.	.	.	.	A	8.173	0.792073	0.16258	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T;T;T;T;T	0.50548	2.3;2.3;4.09;4.09;0.74	3.71	2.54	0.30619	.	0.225650	0.26542	N	0.023795	T	0.39911	0.1096	L	0.48642	1.525	0.30567	N	0.763918	D;B;B	0.53312	0.959;0.008;0.005	P;B;B	0.45506	0.483;0.01;0.005	T	0.39860	-0.9593	10	0.33940	T	0.23	-11.5899	7.5177	0.27610	0.7806:0.2194:0.0:0.0	.	238;303;365	B4DW88;Q9C0I9-2;Q9C0I9	.;.;LRC27_HUMAN	G	365;365;303;303;238	ENSP00000357603:E365G;ENSP00000357602:E365G;ENSP00000357601:E303G;ENSP00000357599:E303G;ENSP00000407949:E238G	ENSP00000357599:E303G	E	+	2	0	LRRC27	134019304	0.883000	0.30277	0.971000	0.41717	0.010000	0.07245	0.486000	0.22340	0.555000	0.29079	-0.291000	0.09656	GAG	0	NULL		0.567	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC27	protein_coding	OTTHUMT00000051058.2	17	86	0	0.00	0	0	A	XM_290462	0	0		134169314	1	no_errors	ENST00000368613	ensembl	human	known	74_37	missense	30	75	14.29	6.25	5	5	SNP	0.998	G	G	134169314	A	G	134169314	3	3	61	1	0	0	0	0	1	0	0	0	8981	304	11	4	1302	4	LRRC27	10	134169314	Missense_Mutation	SNP	A	TCGA-XM-A8RH-01A-11D-A423-09		134169314	1365433	2	669											
C14orf21	161424	genome.wustl.edu	37	chr14	24769880	24769880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaggaggaggaggatggaAaggatggtcccacggagacc	13	3	19	6	1	0	1	0	0	0	1	1	9	1	8	2	9	0	0	2	9	1	0			TCGA-XM-A8RH-01A-11D-A423-09	TCGA-XM-A8RH-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e29715d2-4b6c-4ca0-8609-2331f99ac1e2	a7fbac9e-570d-4ef4-b2d4-c282c3973c97	g.chr14:24769880A>G	ENST00000267425.3	+	2	607	c.514A>G	c.(514-516)Aag>Gag	p.K172E	NOP9_ENST00000396802.3_Missense_Mutation_p.K172E|DHRS1_ENST00000288111.7_5'Flank|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	172							poly(A) RNA binding (GO:0044822)										ggaggaTGGAAAGGATGGTCC	0.562																																							0											0													149	127	134					14																	24769880		2203	4300	6503	SO:0001583	missense	0				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.514A>G	14.37:g.24769880A>G	ENSP00000267425:p.Lys172Glu		A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.K172E	ENST00000267425.3	37	c.514	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	A	3.247	-0.154076	0.06585	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.28895	1.62;1.59	4.92	-1.46	0.08800	Armadillo-like helical (1);Armadillo-type fold (1);	0.974614	0.08433	N	0.946618	T	0.11879	0.0289	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33111	-0.9881	10	0.02654	T	1	-14.847	10.8715	0.46885	0.4395:0.0:0.5605:0.0	.	172	Q86U38	CN021_HUMAN	E	172	ENSP00000267425:K172E;ENSP00000380020:K172E	ENSP00000267425:K172E	K	+	1	0	C14orf21	23839720	0.007000	0.16637	0.002000	0.10522	0.894000	0.52154	0.038000	0.13862	-0.162000	0.10964	0.533000	0.62120	AAG	0	superfamily_ARM-type_fold		0.562	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	protein_coding	OTTHUMT00000073186.2	28	76	0	1.30	0	1	A		0	0		24769880	1	no_errors	ENST00000267425	ensembl	human	known	74_37	missense	49	73	9.26	6.41	5	5	SNP	0.014	G	G	24769880	A	G	24769880	3	3	61	1	0	0	0	0	1	0	0	0	1769	15	1	3	520	3	C14orf21	14	24769880	Missense_Mutation	SNP	A	TCGA-XM-A8RH-01A-11D-A423-09		24769880	82579660	3	670											
CYB5R1	51706	genome.wustl.edu	37	chr1	202931736	202931736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgcaccattgggggtggCccacaaagcagtaccagcac	11	5	12	13	0	0	0	0	0	0	0	0	0	0	0	3	3	5	5	3	3	2	2			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr1:202931736C>T	ENST00000367249.4	-	9	911	c.837G>A	c.(835-837)ggG>ggA	p.G279G	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	279					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TTGGGGGTGGCCCACAAAGCA	0.562																																							0											0													132	115	121					1																	202931736		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.837G>A	1.37:g.202931736C>T			A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase	p.G279	ENST00000367249.4	37	c.837	CCDS1431.1	1																																																																																			0	pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase		0.562	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	protein_coding	OTTHUMT00000099155.1	36	271	0	0.00	0	0	C	NM_016243	0	0		202931736	-1	no_errors	ENST00000367249	ensembl	human	known	74_37	silent	46	200	11.54	7.83	6	17	SNP	0.997	T	T	202931736	C	T	202931736	2	4	62	1	0	0	0	0	0	0	0	1	4126	726	26	3		3	CYB5R1	1	202931736	Silent	SNP	C	TCGA-XM-A8RI-01A-12D-A423-09		202931736	46318885	1	671											
ZNF513	130557	genome.wustl.edu	37	chr2	27600982	27600982	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctttgtcactggggccctgGggccccccactggcaccccc	3	7	11	20	0	1	0	1	0	0	0	1	0	1	0	7	5	0	1	7	5	0	1			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr2:27600982G>C	ENST00000323703.6	-	4	1254	c.1056C>G	c.(1054-1056)ccC>ccG	p.P352P	ZNF513_ENST00000407879.1_Silent_p.P290P|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	352					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGGCCCTGGGGCCCCCCAC	0.642																																							0											0													44	57	52					2																	27600982		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"Zinc fingers, C2H2-type"	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1056C>G	2.37:g.27600982G>C			A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P352	ENST00000323703.6	37	c.1056	CCDS1751.1	2																																																																																			0	NULL		0.642	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF513	protein_coding	OTTHUMT00000215026.2	59	166	0	0.00	0	0	G	NM_144631	0	0		27600982	-1	no_errors	ENST00000323703	ensembl	human	known	74_37	silent	60	94	7.69	11.32	5	12	SNP	1	C	C	27600982	G	C	27600982	2	2	62	1	0	0	0	0	0	0	0	1	17955	1219	43	5		5	ZNF513	2	27600982	Silent	SNP	G	TCGA-XM-A8RI-01A-12D-A423-09		27600982	215598391	2	672											
SF3B1	23451	genome.wustl.edu	37	chr2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgatggtccgaacttTctgctgctcatccacaagac	10	10	8	13	1	2	2	1	1	1	1	4	3	4	2	2	1	4	3	2	1	2	1	rs559063155		TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	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						0		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)																																								SO:0001583	missense	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2098A>G	2.37:g.198266834T>C	ENSP00000335321:p.Lys700Glu		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	0	superfamily_ARM-type_fold		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	protein_coding	OTTHUMT00000335245.2	29	348	0	0.00	0	0	T		rs559063155	T->C		198266834	-1	no_errors	ENST00000335508	ensembl	human	known	74_37	missense	38	262	9.52	8.71	4	25	SNP	1	C	C	198266834	T	C	198266834	3	2	62	1	0	0	0	0	1	0	0	0	14149	1792	62	3	1860	3	SF3B1	2	198266834	Missense_Mutation	SNP	T	TCGA-XM-A8RI-01A-12D-A423-09	170665852	198266834	44932539	3	673											
COL25A1	84570	genome.wustl.edu	37	chr4	109767374	109767374	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccctttgagcctttgagtCcctaaaaatgatagacaagg	12	11	8	10	0	0	4	0	3	0	1	2	4	2	4	3	1	1	0	3	1	5	4			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr4:109767374C>G	ENST00000399132.1	-	28	1966	c.1436G>C	c.(1435-1437)gGa>gCa	p.G479A	COL25A1_ENST00000399126.1_Splice_Site_p.G479A|COL25A1_ENST00000399127.1_Splice_Site_p.G452A	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)		GCCTTTGAGTCCCTAAAAATG	0.423																																							0											0													115	108	110					4																	109767374		1847	4098	5945	SO:0001630	splice_region_variant	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1435-1G>C	4.37:g.109767374C>G				Missense_Mutation	SNP	pfam_Collagen	p.G479A	ENST00000399132.1	37	c.1436	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041258	0.55003	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99329	-5.75;-5.75;-5.75	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.96833	3.89	0.54753	D	0.999983	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.97495	1.0056	9	.	.	.	-6.7687	18.8175	0.92084	0.0:1.0:0.0:0.0	.	479;479	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	A	479;481;460;452;479;409	ENSP00000382083:G479A;ENSP00000382078:G452A;ENSP00000382077:G479A	.	G	-	2	0	COL25A1	109986823	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.044000	0.71012	2.450000	0.82876	0.561000	0.74099	GGA	0	pfam_Collagen		0.423	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	protein_coding	OTTHUMT00000315938.2	140	508	0	0.20	0	1	C	NM_032518	0	0	Missense_Mutation	109767374	-1	no_errors	ENST00000399132	ensembl	human	known	74_37	missense	201	325	8.22	6.88	18	24	SNP	1	G	G	109767374	C	G	109767374	5	3	62	1	0	0	0	0	0	0	1	0	3684	869	30	5	656	5	COL25A1	4	109767374	Splice_Site	SNP	C	TCGA-XM-A8RI-01A-12D-A423-09		109767374	81386902	4	674											
PLEKHG4B	153478	genome.wustl.edu	37	chr5	143228	143228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccattgccacaaccccagcgGgccttccgatgtgcctgccc	6	7	9	19	2	0	0	0	0	0	0	1	1	1	0	8	1	5	0	8	1	1	2			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr5:143228G>A	ENST00000283426.6	+	2	526	c.476G>A	c.(475-477)gGg>gAg	p.G159E	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	159							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)		AACCCCAGCGGGCCTTCCGAT	0.632																																							0											0													73	92	85					5																	143228		2203	4295	6498	SO:0001583	missense	0			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.476G>A	5.37:g.143228G>A	ENSP00000283426:p.Gly159Glu			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.G159E	ENST00000283426.6	37	c.476	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	.	10.27	1.302781	0.23736	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.26810	1.71;3.07	2.75	-0.437	0.12272	.	.	.	.	.	T	0.11879	0.0289	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.15052	0.012	T	0.29181	-1.0020	9	0.30078	T	0.28	.	0.9757	0.01425	0.1782:0.3271:0.3141:0.1806	.	159	Q96PX9	PKH4B_HUMAN	E	159;73	ENSP00000283426:G159E;ENSP00000422493:G73E	ENSP00000283426:G159E	G	+	2	0	PLEKHG4B	196228	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.175000	0.09825	-0.136000	0.11475	0.297000	0.19635	GGG	0	NULL		0.632	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	protein_coding	OTTHUMT00000365359.1	37	96	0	0.00	0	0	G	NM_052909	0	0		143228	1	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	20	61	16.67	10.14	4	7	SNP	0	A	A	143228	G	A	143228	3	1	62	1	0	0	0	0	1	0	0	0	12072	1232	43	3	482	3	PLEKHG4B	5	143228	Missense_Mutation	SNP	G	TCGA-XM-A8RI-01A-12D-A423-09		143228	180772032	5	675											
SLU7	10569	genome.wustl.edu	37	chr5	159833628	159833628	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggcatccaaatgttcttgGccaccatactaaaaggacat	13	9	9	10	0	1	0	0	0	1	0	2	1	2	1	3	4	1	2	3	4	4	4			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr5:159833628G>T	ENST00000297151.4	-	12	1521	c.1134C>A	c.(1132-1134)ggC>ggA	p.G378G		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	378					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	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)			AATGTTCTTGGCCACCATACT	0.388																																							0											0													93	86	88					5																	159833628		2203	4300	6503	SO:0001819	synonymous_variant	0			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1134C>A	5.37:g.159833628G>T			D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Silent	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.G378	ENST00000297151.4	37	c.1134	CCDS4352.1	5																																																																																			0	pfam_Slu7		0.388	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	protein_coding	OTTHUMT00000252673.1	62	541	0	0.00	0	0	G	NM_006425	0	0		159833628	-1	no_errors	ENST00000297151	ensembl	human	known	74_37	silent	76	372	13.64	13.08	12	56	SNP	0.964	T	T	159833628	G	T	159833628	2	4	62	1	0	0	0	0	0	0	0	1	14755	1190	42	5		5	SLU7	5	159833628	Silent	SNP	G	TCGA-XM-A8RI-01A-12D-A423-09	159690400	159833628	21081632	6	676											
SCAND3	114821	genome.wustl.edu	37	chr6	28542861	28542861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtatgcaagctggcaaCaagttcttcagttagctgag	10	13	10	8	0	3	1	1	1	2	0	3	1	3	1	0	1	4	7	0	1	5	5			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr6:28542861C>T	ENST00000452236.2	-	3	2238	c.1621G>A	c.(1621-1623)Gtt>Att	p.V541I	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						AAGCTGGCAACAAGTTCTTCA	0.413																																							0											0													104	103	103					6																	28542861		2203	4300	6503	SO:0001583	missense	0																														ENST00000452236.2:c.1621G>A	6.37:g.28542861C>T	ENSP00000395259:p.Val541Ile			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.V541I	ENST00000452236.2	37	c.1621	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	9.565	1.119611	0.20877	.	.	ENSG00000232040	ENST00000452236	T	0.01379	4.96	3.41	-0.817	0.10836	.	.	.	.	.	T	0.00356	0.0011	L	0.28115	0.83	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40905	-0.9538	9	0.25751	T	0.34	.	2.8405	0.05527	0.2005:0.4355:0.0:0.364	.	541	Q6R2W3	SCND3_HUMAN	I	541	ENSP00000395259:V541I	ENSP00000395259:V541I	V	-	1	0	SCAND3	28650840	0.018000	0.18449	0.010000	0.14722	0.958000	0.62258	-0.263000	0.08670	-0.341000	0.08376	0.563000	0.77884	GTT	0	NULL		0.413	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	17	319	0	0.00	0	0	C		0	0		28542861	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	26	196	10.34	8.84	3	19	SNP	0.037	T	T	28542861	C	T	28542861	3	4	62	1	0	0	0	0	1	0	0	0	13876	478	17	3	2364	3	SCAND3	6	28542861	Missense_Mutation	SNP	C	TCGA-XM-A8RI-01A-12D-A423-09		28542861	142572206	7	677											
C6orf223	221416	genome.wustl.edu	37	chr6	43970530	43970530	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcggcggcGggaggagacgcaggtcacgc	5	1	23	12	9	1	1	1	0	0	1	1	3	1	2	0	9	0	1	0	9	0	0			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr6:43970530G>A	ENST00000336600.5	+	4	416	c.396G>A	c.(394-396)gcG>gcA	p.A132A	RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000442114.2_Silent_p.A112A|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	132	Ala-rich.			A -> AA (in Ref. 3; AAH32706). {ECO:0000305}.						central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			cggcggcggcggGAGGAGACG	0.781																																							0											0													2	3	3					6																	43970530		1234	2788	4022	SO:0001819	synonymous_variant	0			BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.396G>A	6.37:g.43970530G>A			E9PB59|Q8N575	Silent	SNP	NULL	p.A132	ENST00000336600.5	37	c.396	CCDS34459.1	6																																																																																			0	NULL		0.781	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf223	protein_coding	OTTHUMT00000040702.3	21	0	0	0.00	0	0	G	NM_153246	0	0		43970530	1	no_errors	ENST00000336600	ensembl	human	known	74_37	silent	20	0	16.67	0.00	4	0	SNP	0.006	A	A	43970530	G	A	43970530	2	1	62	1	0	0	0	0	0	0	0	1	2357	1103	39	2		2	C6orf223	6	43970530	Silent	SNP	G	TCGA-XM-A8RI-01A-12D-A423-09	15427669	43970530	127144537	8	678											
CYP3A43	64816	genome.wustl.edu	37	chr7	99459367	99459367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatattgaaatcaatggagtGttcattcccaaagggttagc	13	12	10	6	0	2	1	2	1	0	0	3	3	3	2	1	2	1	2	1	2	5	5			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr7:99459367G>A	ENST00000354829.2	+	11	1261	c.1158G>A	c.(1156-1158)gtG>gtA	p.V386V	CYP3A43_ENST00000415413.1_Silent_p.V175V|CYP3A43_ENST00000417625.1_Silent_p.V276V|CYP3A43_ENST00000444905.1_Silent_p.V133V|CYP3A43_ENST00000342499.4_Silent_p.V246V|CYP3A43_ENST00000312017.5_Silent_p.V386V|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Silent_p.V386V	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	386			Missing (in allele CYP3A43*2).		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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TCAATGGAGTGTTCATTCCCA	0.438																																							0											0													146	128	134					7																	99459367		2203	4300	6503	SO:0001819	synonymous_variant	0			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1158G>A	7.37:g.99459367G>A			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	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	p.V386	ENST00000354829.2	37	c.1158	CCDS5676.1	7																																																																																			0	pfam_Cyt_P450,superfamily_Cyt_P450		0.438	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	protein_coding	OTTHUMT00000344379.1	66	254	0	0.00	0	0	G		0	0		99459367	1	no_errors	ENST00000222382	ensembl	human	known	74_37	silent	88	192	9.28	4.48	9	9	SNP	0	A	A	99459367	G	A	99459367	2	1	62	1	0	0	0	0	0	0	0	1	4179	1364	48	3		3	CYP3A43	7	99459367	Silent	SNP	G	TCGA-XM-A8RI-01A-12D-A423-09		99459367	59679296	9	679											
FAM82B	51115	genome.wustl.edu	37	chr8	87520845	87520845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtcgagcagccagcGccatgacctgcaacttgcgg	9	5	12	15	3	0	1	0	1	0	0	1	2	0	1	4	1	6	2	4	1	1	1			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr8:87520845G>A	ENST00000406452.3	-	1	164	c.5C>T	c.(4-6)gCg>gTg	p.A2V	RMDN1_ENST00000519966.1_Missense_Mutation_p.A2V|RMDN1_ENST00000518772.1_5'UTR|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000430676.2_Missense_Mutation_p.A2V	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	2						microtubule (GO:0005874)|mitochondrion (GO:0005739)											AGCAGCCAGCGCCATGACCTG	0.672																																							0											0													16	16	16					8																	87520845		2171	4249	6420	SO:0001583	missense	0			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.5C>T	8.37:g.87520845G>A	ENSP00000385927:p.Ala2Val		A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	NULL	p.A2V	ENST00000406452.3	37	c.5	CCDS34918.1	8	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014917	0.54468	.	.	ENSG00000176623	ENST00000406452;ENST00000519966;ENST00000430676	T;T;T	0.59083	1.05;0.38;0.29	3.87	2.98	0.34508	.	0.534241	0.14120	N	0.340098	T	0.51312	0.1667	M	0.68952	2.095	0.80722	D	1	B;B;B	0.27117	0.168;0.168;0.045	B;B;B	0.15484	0.013;0.013;0.013	T	0.54029	-0.8354	10	0.72032	D	0.01	0.1378	7.392	0.26915	0.1211:0.0:0.8789:0.0	.	2;2;2	B4DZW6;E7EVI2;Q96DB5	.;.;RMD1_HUMAN	V	2	ENSP00000385927:A2V;ENSP00000428661:A2V;ENSP00000409661:A2V	ENSP00000385927:A2V	A	-	2	0	FAM82B	87589961	0.975000	0.34042	0.960000	0.40013	0.005000	0.04900	2.157000	0.42320	0.962000	0.38057	0.655000	0.94253	GCG	0	NULL		0.672	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMDN1	protein_coding	OTTHUMT00000374770.2	21	39	0	0.00	0	0	G	NM_016033	0	0		87520845	-1	no_errors	ENST00000406452	ensembl	human	known	74_37	missense	22	31	12	16.22	3	6	SNP	0.979	A	A	87520845	G	A	87520845	3	1	62	1	0	0	0	0	1	0	0	0	5632	1087	38	1	979	1	FAM82B	8	87520845	Missense_Mutation	SNP	G	TCGA-XM-A8RI-01A-12D-A423-09		87520845	58843177	10	680											
KIF5B	3799	genome.wustl.edu	37	chr10	32329384	32329384	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattatatccttcaagtacAtctatgagaaaagattttat	15	15	4	7	0	2	2	1	1	1	2	3	3	3	2	2	0	1	1	2	0	8	7			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr10:32329384A>T	ENST00000302418.4	-	3	673	c.216T>A	c.(214-216)gaT>gaA	p.D72E		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	72	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTTCAAGTACATCTATGAGAA	0.338			T	"RET, ALK"	NSCLC																																		0		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													139	129	132					10																	32329384		2202	4295	6497	SO:0001630	splice_region_variant	0			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.215-1T>A	10.37:g.32329384A>T			A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D72E	ENST00000302418.4	37	c.216	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717856	0.89205	.	.	ENSG00000170759	ENST00000302418	T	0.73152	-0.72	5.8	4.67	0.58626	Kinesin, motor domain (4);	0.048871	0.85682	D	0.000000	T	0.80999	0.4732	M	0.64630	1.985	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.81959	-0.0694	10	0.87932	D	0	.	11.8065	0.52158	0.9315:0.0:0.0685:0.0	.	72	P33176	KINH_HUMAN	E	72	ENSP00000307078:D72E	ENSP00000307078:D72E	D	-	3	2	KIF5B	32369390	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.146000	0.71777	1.036000	0.39998	0.529000	0.55759	GAT	0	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.338	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	protein_coding	OTTHUMT00000047467.1	51	374	0	0.27	0	1	A	NM_004521	0	0	Missense_Mutation	32329384	-1	no_errors	ENST00000302418	ensembl	human	known	74_37	missense	67	283	8.22	5.35	6	16	SNP	1	T	T	32329384	A	T	32329384	5	4	62	1	0	0	0	0	0	0	1	0	8306	231	8	5	2767	5	KIF5B	10	32329384	Splice_Site	SNP	A	TCGA-XM-A8RI-01A-12D-A423-09		32329384	103205363	11	681											
CHEK1	1111	genome.wustl.edu	37	chr11	125514478	125514478	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgcagacaaatcttatcaAtgcctgaaagagacttgtga	15	10	9	7	0	2	4	1	2	1	2	2	6	2	4	1	0	2	1	1	0	4	2			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr11:125514478A>G	ENST00000534070.1	+	11	1428	c.1173A>G	c.(1171-1173)caA>caG	p.Q391Q	CHEK1_ENST00000427383.2_Silent_p.Q407Q|CHEK1_ENST00000544373.1_Silent_p.Q391Q|CHEK1_ENST00000428830.2_Silent_p.Q391Q|CHEK1_ENST00000524737.1_Silent_p.Q391Q|CHEK1_ENST00000438015.1_Silent_p.Q391Q|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Intron	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	391	Autoinhibitory region.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	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;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AATCTTATCAATGCCTGAAAG	0.373								Other conserved DNA damage response genes																															0											0													117	118	118					11																	125514478		2201	4299	6500	SO:0001819	synonymous_variant	0			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"CHK1 (checkpoint, S.pombe) homolog", "CHK1 checkpoint homolog (S. pombe)"			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.1173A>G	11.37:g.125514478A>G			A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	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.Q391	ENST00000534070.1	37	c.1173	CCDS8459.1	11																																																																																			0	NULL		0.373	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CHEK1	protein_coding	OTTHUMT00000386714.1	86	333	0	0.30	0	1	A	NM_001274	0	0		125514478	1	no_errors	ENST00000438015	ensembl	human	known	74_37	silent	72	252	10	8.66	8	24	SNP	0.002	G	G	125514478	A	G	125514478	2	3	62	1	0	0	0	0	0	0	0	1	3334	98	4	3		3	CHEK1	11	125514478	Silent	SNP	A	TCGA-XM-A8RI-01A-12D-A423-09		125514478	9492038	12	682											
SNX19	399979	genome.wustl.edu	37	chr11	130784293	130784293	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggctcaaagctgaaggtGgctgagctgagaggaccagg	11	5	18	7	0	1	3	1	3	0	1	1	5	1	4	1	6	2	4	1	6	2	0			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr11:130784293G>A	ENST00000265909.4	-	1	2111	c.1542C>T	c.(1540-1542)gcC>gcT	p.A514A	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Silent_p.A514A|SNX19_ENST00000533318.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	514					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGCTGAAGGTGGCTGAGCTGA	0.537																																							0											0													103	92	96					11																	130784293		2201	4297	6498	SO:0001819	synonymous_variant	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1542C>T	11.37:g.130784293G>A			E9PKB9|Q8IV55	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.A514	ENST00000265909.4	37	c.1542	CCDS31721.1	11																																																																																			0	superfamily_Phox		0.537	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	protein_coding	OTTHUMT00000385649.1	32	120	0	0.00	0	0	G	NM_014758	0	0		130784293	-1	no_errors	ENST00000265909	ensembl	human	known	74_37	silent	18	108	28	6.90	7	8	SNP	1	A	A	130784293	G	A	130784293	2	1	62	1	0	0	0	0	0	0	0	1	14890	1335	47	3		3	SNX19	11	130784293	Silent	SNP	G	TCGA-XM-A8RI-01A-12D-A423-09	5269815	130784293	4222223	13	683											
SOX1	6656	genome.wustl.edu	37	chr13	112722167	112722167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtggtcccgcgggcaGcggcgcaagatggcccagga	7	5	18	11	4	0	1	0	0	0	1	1	2	1	2	2	6	1	2	2	6	1	0			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr13:112722167G>A	ENST00000330949.1	+	1	255	c.195G>A	c.(193-195)caG>caA	p.Q65Q		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	65					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)		CCCGCGGGCAGCGGCGCAAGA	0.711																																							0											0													36	40	39					13																	112722167		2203	4300	6503	SO:0001819	synonymous_variant	0				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.195G>A	13.37:g.112722167G>A			Q5W0Q1	Silent	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Q65	ENST00000330949.1	37	c.195	CCDS9523.1	13																																																																																			0	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom		0.711	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX1	protein_coding	OTTHUMT00000045817.3	56	62	0	0.00	0	0	G	NM_005986	0	0		112722167	1	no_errors	ENST00000330949	ensembl	human	known	74_37	silent	57	66	12.31	9.59	8	7	SNP	1	A	A	112722167	G	A	112722167	2	1	62	1	0	0	0	0	0	0	0	1	14940	962	34	3		3	SOX1	13	112722167	Silent	SNP	G	TCGA-XM-A8RI-01A-12D-A423-09		112722167	2447711	14	684											
C19orf59	199675	genome.wustl.edu	37	chr19	7742553	7742553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagactatgagaatatcaCcttggccttcaaaaatcagg	14	9	7	11	0	3	2	3	1	0	2	3	3	3	2	3	2	0	0	3	2	5	4			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chr19:7742553C>G	ENST00000333598.3	+	2	579	c.125C>G	c.(124-126)aCc>aGc	p.T42S	C19orf59_ENST00000597445.1_Intron|CTD-3214H19.16_ENST00000597959.1_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		42						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GAGAATATCACCTTGGCCTTC	0.542											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													97	78	85					19																	7742553		2203	4300	6503	SO:0001583	missense	0																														ENST00000333598.3:c.125C>G	19.37:g.7742553C>G	ENSP00000329920:p.Thr42Ser	644	Q8IX20	Missense_Mutation	SNP	NULL	p.T42S	ENST00000333598.3	37	c.125	CCDS12183.1	19	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245541	0.39697	.	.	ENSG00000183019	ENST00000333598	T	0.25749	1.78	4.06	2.97	0.34412	.	0.402618	0.18321	N	0.144801	T	0.17577	0.0422	L	0.29908	0.895	0.27661	N	0.947067	P	0.46142	0.873	B	0.40066	0.318	T	0.05582	-1.0876	10	0.42905	T	0.14	-27.7234	9.3019	0.37851	0.2162:0.7838:0.0:0.0	.	42	Q8IX19	MCEM1_HUMAN	S	42	ENSP00000329920:T42S	ENSP00000329920:T42S	T	+	2	0	C19orf59	7648553	0.811000	0.29063	0.997000	0.53966	0.554000	0.35429	0.224000	0.17738	0.926000	0.37118	0.561000	0.74099	ACC	0	NULL		0.542	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf59	protein_coding	OTTHUMT00000461248.1	42	384	0	0.00	0	0	C		0	0		7742553	1	no_errors	ENST00000333598	ensembl	human	known	74_37	missense	42	229	12.5	12.93	6	34	SNP	1	G	G	7742553	C	G	7742553	3	3	62	1	0	0	0	0	1	0	0	0	1940	507	18	5	131	5	C19orf59	19	7742553	Missense_Mutation	SNP	C	TCGA-XM-A8RI-01A-12D-A423-09		7742553	51386430	15	685											
NLGN4X	57502	genome.wustl.edu	37	chrX	5821678	5821678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtcgtctgggatgacGtcgccgtcgatcaccggccc	4	8	16	13	6	2	1	1	1	1	0	5	3	2	2	3	4	0	0	3	4	0	0			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chrX:5821678G>T	ENST00000381095.3	-	5	1668	c.1041C>A	c.(1039-1041)gaC>gaA	p.D347E	NLGN4X_ENST00000381092.1_Missense_Mutation_p.D347E|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D347E|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D347E|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D367E	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	347					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.D347D(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						CTGGGATGACGTCGCCGTCGA	0.587																																							0											1	Substitution - coding silent(1)	large_intestine(1)											133	92	106					X																	5821678		2203	4300	6503	SO:0001583	missense	0			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.1041C>A	X.37:g.5821678G>T	ENSP00000370485:p.Asp347Glu		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.D367E	ENST00000381095.3	37	c.1101	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	7.598	0.672246	0.14776	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	3.93	-6.73	0.01749	Carboxylesterase, type B (1);	.	.	.	.	T	0.70193	0.3196	L	0.53249	1.67	0.45250	D	0.998259	P;D;B	0.53619	0.817;0.961;0.31	P;P;B	0.59171	0.623;0.853;0.145	T	0.76710	-0.2859	8	.	.	.	.	15.4484	0.75253	0.6664:0.0:0.3336:0.0	.	404;347;367	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	E	347;367;347;347;347	ENSP00000370485:D347E;ENSP00000370483:D367E;ENSP00000275857:D347E;ENSP00000370482:D347E;ENSP00000439203:D347E	.	D	-	3	2	NLGN4X	5831678	0.111000	0.22076	0.016000	0.15963	0.033000	0.12548	-0.722000	0.04958	-2.148000	0.00798	-0.191000	0.12829	GAC	0	pfam_CarbesteraseB		0.587	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	protein_coding	OTTHUMT00000055673.1	38	24	0	0.00	0	0	G	NM_020742	0	0		5821678	-1	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	21	19	19.23	34.48	5	10	SNP	0.839	T	T	5821678	G	T	5821678	3	4	62	1	0	0	0	0	1	0	0	0	10464	1136	40	5	1417	5	NLGN4X	23	5821678	Missense_Mutation	SNP	G	TCGA-XM-A8RI-01A-12D-A423-09		5821678	149448882	16	686											
BCOR	54880	genome.wustl.edu	37	chrX	39932171	39932171	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttagcatctggttcttctcGgagaaggtctacgtagacaa	10	13	10	8	2	4	2	0	0	4	2	5	3	4	2	0	3	2	3	0	3	5	6			TCGA-XM-A8RI-01A-12D-A423-09	TCGA-XM-A8RI-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0	664d4a71-f24b-41bc-bf97-16644d9ddfc1	g.chrX:39932171G>A	ENST00000378444.4	-	4	2656	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.R810*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.R810*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.R810*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	810					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						GGTTCTTCTCGGAGAAGGTCT	0.522			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																0		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													119	115	116					X																	39932171		2202	4300	6502	SO:0001587	stop_gained	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2428C>T	X.37:g.39932171G>A	ENSP00000367705:p.Arg810*		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R810*	ENST00000378444.4	37	c.2428	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	41	8.837567	0.98972	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1636	12.9687	0.58499	0.0:0.0:0.8392:0.1608	.	.	.	.	X	810;810;810;810;810;217	.	ENSP00000345923:R810X	R	-	1	2	BCOR	39817115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.795000	0.75140	2.442000	0.82660	0.513000	0.50165	CGA	0	NULL		0.522	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	29	206	0	0.00	0	0	G	NM_017745	0	0		39932171	-1	no_errors	ENST00000378444	ensembl	human	known	74_37	nonsense	26	100	37.21	40.12	16	67	SNP	0.999	A	A	39932171	G	A	39932171	4	1	62	1	0	0	0	0	0	1	0	0	1386	1124	39	2	2887	2	BCOR	23	39932171	Nonsense_Mutation	SNP	G	TCGA-XM-A8RI-01A-12D-A423-09	34110493	39932171	115338389	17	687											
NRAS	4893	genome.wustl.edu	37	chr1	115258734	115258734	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctggattgtcagtgcgctTttcccaacaccacctgctcc	7	11	8	15	1	1	0	1	0	0	0	3	1	3	1	4	1	4	3	4	1	1	3			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr1:115258734T>G	ENST00000369535.4	-	2	301	c.48A>C	c.(46-48)aaA>aaC	p.K16N	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	16					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.K16N(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)		TCAGTGCGCTTTTCCCAACAC	0.502		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													0		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	1	Substitution - Missense(1)	adrenal_gland(1)											212	187	195					1																	115258734		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.48A>C	1.37:g.115258734T>G	ENSP00000358548:p.Lys16Asn		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.K16N	ENST00000369535.4	37	c.48	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.406587	0.83230	.	.	ENSG00000213281	ENST00000369535	D	0.90900	-2.75	5.58	3.3	0.37823	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000016	D	0.96993	0.9018	H	0.99927	4.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95525	0.8598	10	0.87932	D	0	.	8.9312	0.35672	0.0:0.2162:0.0:0.7838	.	16	P01111	RASN_HUMAN	N	16	ENSP00000358548:K16N	ENSP00000358548:K16N	K	-	3	2	NRAS	115060257	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.967000	0.40491	0.559000	0.29153	-0.250000	0.11733	AAA	0	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		0.502	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	72	287	0	0.35	0	1	T	NM_002524	0	0		115258734	-1	no_errors	ENST00000369535	ensembl	human	known	74_37	missense	103	239	10.43	11.07	12	30	SNP	1	G	G	115258734	T	G	115258734	3	3	63	1	0	0	0	0	1	0	0	0	10640	1838	64	5	537	5	NRAS	1	115258734	Missense_Mutation	SNP	T	TCGA-XM-AAZ1-01A-11D-A423-09		115258734	133991887	1	688											
SLC29A1	2030	genome.wustl.edu	37	chr6	44200586	44200586	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagcctggtgctggccCggctggtgtttgtgccactg	3	11	15	12	1	0	0	0	0	0	0	0	0	0	0	4	4	4	3	4	4	1	1			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr6:44200586C>G	ENST00000393841.1	+	13	1593	c.1102C>G	c.(1102-1104)Cgg>Ggg	p.R368G	SLC29A1_ENST00000371740.5_Missense_Mutation_p.R368G|SLC29A1_ENST00000371713.1_Missense_Mutation_p.R368G|SLC29A1_ENST00000393844.1_Missense_Mutation_p.R368G|SLC29A1_ENST00000371755.3_Missense_Mutation_p.R368G|SLC29A1_ENST00000371731.1_Missense_Mutation_p.R368G|SLC29A1_ENST00000371724.1_Missense_Mutation_p.R368G|SLC29A1_ENST00000427851.2_Missense_Mutation_p.R368G|SLC29A1_ENST00000313248.7_Missense_Mutation_p.R447G|SLC29A1_ENST00000371708.1_Missense_Mutation_p.R368G	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	368					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	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)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GGTGCTGGCCCGGCTGGTGTT	0.662																																							0											0													48	38	41					6																	44200586		2203	4300	6503	SO:0001583	missense	0			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1102C>G	6.37:g.44200586C>G	ENSP00000377424:p.Arg368Gly		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.R447G	ENST00000393841.1	37	c.1339	CCDS4908.1	6	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592765	0.66219	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	D;D;D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.62	2.46	0.29980	.	0.000000	0.85682	D	0.000000	D	0.91317	0.7262	H	0.96365	3.81	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.986	D	0.92150	0.5727	10	0.87932	D	0	-13.5126	10.6711	0.45760	0.2541:0.6774:0.0:0.0685	.	447;368	B3KQV7;Q99808	.;S29A1_HUMAN	G	368;447;368;368;368;368;368;368;368;368	ENSP00000377427:R368G;ENSP00000319152:R447G;ENSP00000392668:R368G;ENSP00000360820:R368G;ENSP00000360805:R368G;ENSP00000360796:R368G;ENSP00000377424:R368G;ENSP00000360789:R368G;ENSP00000360778:R368G;ENSP00000360773:R368G	ENSP00000319152:R447G	R	+	1	2	SLC29A1	44308564	0.994000	0.37717	0.028000	0.17463	0.960000	0.62799	3.173000	0.50839	0.683000	0.31428	0.655000	0.94253	CGG	0	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt		0.662	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	protein_coding	OTTHUMT00000040721.1	48	46	0	0.00	0	0	C		0	0		44200586	1	no_errors	ENST00000313248	ensembl	human	known	74_37	missense	74	56	13.95	5.08	12	3	SNP	0.699	G	G	44200586	C	G	44200586	3	3	63	1	0	0	0	0	1	0	0	0	14534	643	23	5	1144	5	SLC29A1	6	44200586	Missense_Mutation	SNP	C	TCGA-XM-AAZ1-01A-11D-A423-09		44200586	126914481	2	689											
RNF146	81847	genome.wustl.edu	37	chr6	127608562	127608562	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataggggagaaggagaagaAgatcatgaatcaccatcttc	16	7	11	7	0	3	5	2	1	1	4	4	7	3	5	1	3	0	0	1	3	5	2			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr6:127608562A>T	ENST00000368314.1	+	3	1228	c.804A>T	c.(802-804)gaA>gaT	p.E268D	RNF146_ENST00000610153.1_Missense_Mutation_p.E268D|RNF146_ENST00000608991.1_Missense_Mutation_p.E267D|RNF146_ENST00000309649.3_Missense_Mutation_p.E267D|RNF146_ENST00000356799.2_3'UTR|ECHDC1_ENST00000488087.1_5'Flank	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	268					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		AAGGAGAAGAAGATCATGAAT	0.468																																							0											0													174	162	166					6																	127608562		2203	4300	6503	SO:0001583	missense	0			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.804A>T	6.37:g.127608562A>T	ENSP00000357297:p.Glu268Asp		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.E268D	ENST00000368314.1	37	c.804	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	A	9.555	1.116917	0.20795	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.27256	1.68;1.68;1.68	5.28	2.91	0.33838	.	0.186761	0.45126	D	0.000386	T	0.24851	0.0603	L	0.42245	1.32	0.41590	D	0.988796	D	0.63880	0.993	D	0.70016	0.967	T	0.01925	-1.1246	10	0.44086	T	0.13	-12.2048	9.3562	0.38168	0.7902:0.0:0.2098:0.0	.	268	Q9NTX7	RN146_HUMAN	D	268;267;267	ENSP00000357297:E268D;ENSP00000349253:E267D;ENSP00000309365:E267D	ENSP00000309365:E267D	E	+	3	2	RNF146	127650255	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.857000	0.27831	0.473000	0.27368	0.533000	0.62120	GAA	0	NULL		0.468	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	protein_coding	OTTHUMT00000042112.1	36	206	0	0.00	0	0	A	NM_030963	0	0		127608562	1	no_errors	ENST00000368314	ensembl	human	known	74_37	missense	31	140	16.22	11.95	6	19	SNP	1	T	T	127608562	A	T	127608562	3	4	63	1	0	0	0	0	1	0	0	0	13448	69	3	5	803	5	RNF146	6	127608562	Missense_Mutation	SNP	A	TCGA-XM-AAZ1-01A-11D-A423-09	83407976	127608562	43506505	3	690											
TNFRSF11B	4982	genome.wustl.edu	37	chr8	119938903	119938903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacactaagccagttaggcGtaaactttgtaggaacagca	15	8	10	8	1	0	1	0	0	0	1	0	2	0	2	1	2	4	4	1	2	6	5			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr8:119938903G>A	ENST00000297350.4	-	4	1025	c.647C>T	c.(646-648)aCg>aTg	p.T216M		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	216	Death 1.				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)			CCAGTTAGGCGTAAACTTTGT	0.428																																							0											0													116	104	108					8																	119938903		2203	4300	6503	SO:0001583	missense	0			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.647C>T	8.37:g.119938903G>A	ENSP00000297350:p.Thr216Met		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	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.T216M	ENST00000297350.4	37	c.647	CCDS6326.1	8	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268887	0.40095	.	.	ENSG00000164761	ENST00000297350	D	0.94330	-3.4	5.6	4.72	0.59763	DEATH-like (1);	0.209202	0.42294	D	0.000731	D	0.90256	0.6953	L	0.59436	1.845	0.29737	N	0.837426	P	0.48998	0.918	B	0.38985	0.287	D	0.86846	0.2020	9	.	.	.	-9.3991	11.927	0.52825	0.0813:0.0:0.9187:0.0	.	216	O00300	TR11B_HUMAN	M	216	ENSP00000297350:T216M	.	T	-	2	0	TNFRSF11B	120008084	0.945000	0.32115	0.752000	0.31206	0.558000	0.35554	3.934000	0.56553	1.351000	0.45789	0.563000	0.77884	ACG	0	pirsf_TNFR_11B,superfamily_DEATH-like_dom		0.428	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11B	protein_coding	OTTHUMT00000381220.1	51	293	0	0.00	0	0	G		0	0		119938903	-1	no_errors	ENST00000297350	ensembl	human	known	74_37	missense	75	216	9.64	11.43	8	28	SNP	0.918	A	A	119938903	G	A	119938903	3	1	63	1	0	0	0	0	1	0	0	0	16282	1145	40	1	566	1	TNFRSF11B	8	119938903	Missense_Mutation	SNP	G	TCGA-XM-AAZ1-01A-11D-A423-09		119938903	26425119	4	691											
GABBR2	9568	genome.wustl.edu	37	chr9	101133807	101133807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccaggtctttgcaaacatgGccccaaaagcggtcgtgtag	10	9	11	11	2	1	0	0	0	1	0	3	0	2	0	3	3	3	2	3	3	4	2			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr9:101133807G>A	ENST00000259455.2	-	12	2168	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	570					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)	TGCAAACATGGCCCCAAAAGC	0.468																																							0											0													119	110	113					9																	101133807		2203	4300	6503	SO:0001583	missense	0			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.1709C>T	9.37:g.101133807G>A	ENSP00000259455:p.Ala570Val		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	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.A570V	ENST00000259455.2	37	c.1709	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460040	0.84317	.	.	ENSG00000136928	ENST00000259455	D	0.88586	-2.4	5.42	5.42	0.78866	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94503	0.8230	M	0.80616	2.505	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.95014	0.8154	10	0.87932	D	0	-14.6522	16.7142	0.85393	0.0:0.0:1.0:0.0	.	570	O75899	GABR2_HUMAN	V	570	ENSP00000259455:A570V	ENSP00000259455:A570V	A	-	2	0	GABBR2	100173628	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	8.932000	0.92897	2.539000	0.85634	0.655000	0.94253	GCC	0	pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C		0.468	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	protein_coding	OTTHUMT00000053373.1	62	208	0	0.00	0	0	G		0	0		101133807	-1	no_errors	ENST00000259455	ensembl	human	known	74_37	missense	58	164	7.94	6.78	5	12	SNP	1	A	A	101133807	G	A	101133807	3	1	63	1	0	0	0	0	1	0	0	0	6156	1203	42	3	1148	3	GABBR2	9	101133807	Missense_Mutation	SNP	G	TCGA-XM-AAZ1-01A-11D-A423-09		101133807	40079624	5	692											
CD163L1	283316	genome.wustl.edu	37	chr12	7548911	7548911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctttactgttccagccGtcatcacacactgtgcccca	8	10	7	16	1	2	0	2	0	0	0	3	0	3	0	4	0	4	3	4	0	1	3	rs140225151	byFrequency	TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr12:7548911G>A	ENST00000313599.3	-	8	1887	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D	CD163L1_ENST00000416109.2_Silent_p.D620D|CD163L1_ENST00000396630.1_Silent_p.D610D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	610	SRCR 6. {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						TGTTCCAGCCGTCATCACACA	0.567																																							0											0								G		2,4404	4.2+/-10.8	0,2,2201	114	86	96		1830	-4.5	0	12	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	CD163L1	NM_174941.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		610/1454	7548911	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1830C>T	12.37:g.7548911G>A			B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.D610	ENST00000313599.3	37	c.1830	CCDS8577.1	12																																																																																			0	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.567	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	protein_coding	OTTHUMT00000399329.1	23	145	4.17	0.00	1	0	G	NM_174941	rs140225151	G->A		7548911	-1	no_errors	ENST00000313599	ensembl	human	known	74_37	silent	31	108	20.51	4.42	8	5	SNP	0.001	A	A	7548911	G	A	7548911	2	1	63	1	0	0	0	0	0	0	0	1	2968	1136	40	1		1	CD163L1	12	7548911	Silent	SNP	G	TCGA-XM-AAZ1-01A-11D-A423-09		7548911	126302984	6	693											
KRTAP4-11	653240	genome.wustl.edu	37	chr17	39274432	39274432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgcagcagctggacaCacagcagctggggcgacagt	9	4	16	12	1	0	0	0	0	0	0	0	2	0	1	1	4	5	5	1	4	0	0			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr17:39274432C>T	ENST00000391413.2	-	1	174	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	46	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				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)			CAGCTGGACACACAGCAGCTG	0.677																																							0											0													14	18	17					17																	39274432		690	1591	2281	SO:0001583	missense	0			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.136G>A	17.37:g.39274432C>T	ENSP00000375232:p.Val46Met		A0AUY2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.V46M	ENST00000391413.2	37	c.136	CCDS45675.1	17	.	.	.	.	.	.	.	.	.	.	.	10.56	1.385842	0.25031	.	.	ENSG00000212721	ENST00000391413	T	0.01430	4.9	3.76	-6.69	0.01772	.	0.911881	0.08829	U	0.887602	T	0.03739	0.0106	M	0.84948	2.725	0.09310	N	1	P	0.40266	0.71	P	0.46585	0.521	T	0.02144	-1.1206	10	0.54805	T	0.06	.	8.7851	0.34816	0.0:0.3102:0.5247:0.1651	.	46	Q9BYQ6	KR411_HUMAN	M	46	ENSP00000375232:V46M	ENSP00000375232:V46M	V	-	1	0	KRTAP4-11	36527958	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.396000	0.01052	-0.895000	0.03920	-1.166000	0.01754	GTG	0	pfam_Keratin-assoc		0.677	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-11	protein_coding	OTTHUMT00000257690.1	115	2	0	0.00	0	0	C		0	0		39274432	-1	no_errors	ENST00000391413	ensembl	human	known	74_37	missense	132	2	7.04	0.00	10	0	SNP	0	T	T	39274432	C	T	39274432	3	4	63	1	0	0	0	0	1	0	0	0	8549	478	17	3	455	3	KRTAP4-11	17	39274432	Missense_Mutation	SNP	C	TCGA-XM-AAZ1-01A-11D-A423-09		39274432	41920778	7	694											
EIF1AX	1964	genome.wustl.edu	37	chrX	20159748	20159748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgggcggcattacctttaTtcttgggcatggcggtggcg	4	12	15	10	4	1	0	0	0	1	0	2	0	2	0	2	6	1	2	2	6	2	5			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chrX:20159748T>C	ENST00000379607.5	-	1	214	c.11A>G	c.(10-12)aAt>aGt	p.N4S	EIF1AX_ENST00000379593.1_Missense_Mutation_p.N4S|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	4					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						ATTACCTTTATTCTTGGGCAT	0.697																																							0											0													20	19	20					X																	20159748		1827	3401	5228	SO:0001583	missense	0			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.11A>G	X.37:g.20159748T>C	ENSP00000368927:p.Asn4Ser		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	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.N4S	ENST00000379607.5	37	c.11	CCDS14196.1	X	.	.	.	.	.	.	.	.	.	.	t	16.55	3.154231	0.57259	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	T;T	0.42900	0.96;1.02	4.61	4.61	0.57282	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.41396	0.1157	L	0.53249	1.67	0.23150	N	0.998218	B	0.19583	0.037	B	0.26770	0.073	T	0.39165	-0.9627	9	0.66056	D	0.02	.	10.8438	0.46730	0.0:0.0:0.0:1.0	.	4	P47813	IF1AX_HUMAN	S	4	ENSP00000368927:N4S;ENSP00000368912:N4S	ENSP00000368912:N4S	N	-	2	0	EIF1AX	20069669	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.068000	0.57534	1.830000	0.53286	0.438000	0.28831	AAT	0	superfamily_NA-bd_OB-fold		0.697	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1AX	protein_coding	OTTHUMT00000058913.1	31	49	0	0.00	0	0	T		0	0		20159748	-1	no_errors	ENST00000379607	ensembl	human	known	74_37	missense	40	24	14.89	14.29	7	4	SNP	1	C	C	20159748	T	C	20159748	3	2	63	1	0	0	0	0	1	0	0	0	4992	1493	52	3	451	3	EIF1AX	23	20159748	Missense_Mutation	SNP	T	TCGA-XM-AAZ1-01A-11D-A423-09		20159748	135110812	8	695											
CLASP1	23332	genome.wustl.edu	37	chr2	122165068	122165068	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgttctttggctcttcAgtaagttctgcaggcccaga	7	14	10	10	0	5	1	2	0	3	1	5	1	5	1	1	2	1	5	1	2	1	5			TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr2:122165068A>G	ENST00000263710.4	-	25	3037	c.2648T>C	c.(2647-2649)cTg>cCg	p.L883P	CLASP1_ENST00000397587.3_Missense_Mutation_p.L863P|CLASP1_ENST00000455322.2_Missense_Mutation_p.L855P|CLASP1_ENST00000541859.1_Missense_Mutation_p.L616P|CLASP1_ENST00000545861.1_Missense_Mutation_p.L630P|CLASP1_ENST00000541377.1_Missense_Mutation_p.L861P|CLASP1_ENST00000409078.3_Missense_Mutation_p.L855P	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	883					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)					TTGGCTCTTCAGTAAGTTCTG	0.458																																							0											0													67	64	65					2																	122165068		1879	4111	5990	SO:0001583	missense	0			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.2648T>C	2.37:g.122165068A>G	ENSP00000263710:p.Leu883Pro		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L883P	ENST00000263710.4	37	c.2648		2	.	.	.	.	.	.	.	.	.	.	A	26.9	4.777622	0.90195	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.059166	0.64402	D	0.000002	T	0.79581	0.4470	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.998;0.998	D;D;D;D	0.74348	0.964;0.971;0.973;0.983	T	0.81174	-0.1053	10	0.87932	D	0	-36.21	16.6127	0.84892	1.0:0.0:0.0:0.0	.	855;863;861;883	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	P	883;855;863;861;616;855;630	ENSP00000263710:L883P;ENSP00000389372:L855P;ENSP00000380717:L863P;ENSP00000441625:L861P;ENSP00000441770:L616P;ENSP00000386442:L855P;ENSP00000438620:L630P	ENSP00000263710:L883P	L	-	2	0	CLASP1	121881538	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.930000	0.92872	2.322000	0.78497	0.528000	0.53228	CTG	0	superfamily_ARM-type_fold		0.458	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	protein_coding		57	165	0	0.00	0	0	A	NM_015282	0	0		122165068	-1	no_errors	ENST00000263710	ensembl	human	known	74_37	missense	37	165	36.21	36.78	21	96	SNP	1	G	G	122165068	A	G	122165068	3	3	64	1	0	0	0	0	1	0	0	0	3454	188	7	4	2028	4	CLASP1	2	122165068	Missense_Mutation	SNP	A	TCGA-XM-AAZ2-01A-11D-A423-09		122165068	121034305	1	696											
NR1I2	8856	genome.wustl.edu	37	chr3	119534625	119534625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccagctgcaggagcaattCgccattactctgaagtccta	11	9	9	12	1	1	1	0	1	1	0	3	3	2	2	3	1	4	3	3	1	4	3	rs369188703		TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr3:119534625C>T	ENST00000337940.4	+	8	1272	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	NR1I2_ENST00000466380.1_Silent_p.F332F|NR1I2_ENST00000393716.2_Silent_p.F369F	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	369	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)	AGGAGCAATTCGCCATTACTC	0.602																																							0											0								T	,,	0,4406		0,0,2203	56	51	52		1107,1224,996	-5.3	0	3		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NR1I2	NM_003889.3,NM_022002.2,NM_033013.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	369/435,408/474,332/398	119534625	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1224C>T	3.37:g.119534625C>T			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.F408	ENST00000337940.4	37	c.1224	CCDS2995.1	3																																																																																			0	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.602	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	protein_coding	OTTHUMT00000355126.1	39	119	0	0.00	0	0	C		rs369188703	C->T		119534625	1	no_errors	ENST00000337940	ensembl	human	known	74_37	silent	16	80	33.33	40.44	8	55	SNP	0	T	T	119534625	C	T	119534625	2	4	64	1	0	0	0	0	0	0	0	1	10620	883	31	2		2	NR1I2	3	119534625	Silent	SNP	C	TCGA-XM-AAZ2-01A-11D-A423-09		119534625	78487805	2	697											
ADAM29	11086	genome.wustl.edu	37	chr4	175897904	175897904	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgttgaagaaggagaaGagtgtgactgtggaccttta	11	12	15	3	0	0	5	0	2	0	3	0	7	0	6	1	2	0	2	1	2	4	4			TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr4:175897904G>T	ENST00000359240.3	+	5	1898	c.1228G>T	c.(1228-1230)Gag>Tag	p.E410*	ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E410*|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E410*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E410*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	410	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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)		AGAAGGAGAAGAGTGTGACTG	0.423																																					Ovarian(140;1727 1835 21805 25838 41440)		0											0													254	242	246					4																	175897904		2203	4300	6503	SO:0001587	stop_gained	0			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.1228G>T	4.37:g.175897904G>T	ENSP00000352177:p.Glu410*		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	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.E410*	ENST00000359240.3	37	c.1228	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.227759	0.97394	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	.	.	.	3.6	-0.646	0.11472	.	0.226223	0.21249	U	0.077680	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2974	0.66325	0.0:0.589:0.4109:0.0	.	.	.	.	X	410	.	.	E	+	1	0	ADAM29	176134479	0.558000	0.26554	0.005000	0.12908	0.026000	0.11368	-0.343000	0.07791	-0.156000	0.11079	-0.302000	0.09304	GAG	0	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin		0.423	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	protein_coding		40	134	2.38	0.00	1	0	G		0	0		175897904	1	no_errors	ENST00000359240	ensembl	human	known	74_37	nonsense	23	122	55.77	44.80	29	99	SNP	0.053	T	T	175897904	G	T	175897904	4	4	64	1	0	0	0	0	0	1	0	0	247	943	33	5	1230	5	ADAM29	4	175897904	Nonsense_Mutation	SNP	G	TCGA-XM-AAZ2-01A-11D-A423-09		175897904	15256372	3	698											
MCC	4163	genome.wustl.edu	37	chr5	112384918	112384918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgctcctgggcctcccGcgtgctcagcttcagctcca	3	9	11	18	2	2	0	2	0	0	0	5	0	5	0	5	2	4	4	5	2	0	1	rs139015770		TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr5:112384918G>A	ENST00000302475.4	-	14	2520	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	MCC_ENST00000408903.3_Missense_Mutation_p.R843W|MCC_ENST00000515367.2_Missense_Mutation_p.R590W|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	653					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)		TGGGCCTCCCGCGTGCTCAGC	0.602																																							0											0								G	TRP/ARG,TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	52	40	44		2527,1957	4	1	5	dbSNP_134	44	0,8600		0,0,4300	no	missense,missense	MCC	NM_001085377.1,NM_002387.2	101,101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	843/1020,653/830	112384918	1,13003	2202	4300	6502	SO:0001583	missense	0				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.1957C>T	5.37:g.112384918G>A	ENSP00000305617:p.Arg653Trp		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.R653W	ENST00000302475.4	37	c.1957	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228147	0.79576	2.27E-4	0.0	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.36340	2.43;2.43;1.26	4.87	3.96	0.45880	.	0.000000	0.64402	D	0.000002	T	0.41096	0.1144	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.973;0.992;0.973	T	0.29274	-1.0017	10	0.35671	T	0.21	-22.5143	13.9618	0.64185	0.0:0.0:0.8422:0.1578	.	653;843;653	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	W	653;590;843	ENSP00000305617:R653W;ENSP00000421615:R590W;ENSP00000386227:R843W	ENSP00000305617:R653W	R	-	1	2	MCC	112412817	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	4.832000	0.62759	0.966000	0.38159	0.462000	0.41574	CGG	0	NULL		0.602	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	protein_coding	OTTHUMT00000250736.3	43	88	0	0.00	0	0	G	NM_001085377	rs139015770	G->A		112384918	-1	no_errors	ENST00000302475	ensembl	human	known	74_37	missense	25	86	19.35	4.44	6	4	SNP	1	A	A	112384918	G	A	112384918	3	1	64	1	0	0	0	0	1	0	0	0	9373	1086	38	1	548	1	MCC	5	112384918	Missense_Mutation	SNP	G	TCGA-XM-AAZ2-01A-11D-A423-09		112384918	68530342	4	699											
RBM16	22828	genome.wustl.edu	37	chr6	155153402	155153402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaaatactcctggacttCtgggaacacagccaccagct	11	9	7	14	0	1	0	0	0	1	0	3	2	3	2	4	2	4	1	4	2	3	3			TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr6:155153402C>G	ENST00000367178.3	+	20	3265	c.2689C>G	c.(2689-2691)Ctg>Gtg	p.L897V	SCAF8_ENST00000417268.1_Missense_Mutation_p.L897V|SCAF8_ENST00000367186.4_Missense_Mutation_p.L963V|TIAM2_ENST00000461783.3_5'Flank	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	897	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						TCCTGGACTTCTGGGAACACA	0.458																																							0											0													107	112	111					6																	155153402		2203	4300	6503	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2689C>G	6.37:g.155153402C>G	ENSP00000356146:p.Leu897Val		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.L963V	ENST00000367178.3	37	c.2887	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426957	0.25726	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.51817	0.7;0.7;0.69	5.58	1.91	0.25777	.	0.101689	0.38959	U	0.001520	T	0.22166	0.0534	L	0.56769	1.78	0.34652	D	0.721783	P;P;P	0.47350	0.802;0.802;0.894	B;B;B	0.43950	0.277;0.277;0.437	T	0.05321	-1.0892	10	0.27082	T	0.32	.	2.7618	0.05308	0.3299:0.2874:0.0:0.3827	.	942;963;897	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	V	897;897;963	ENSP00000356146:L897V;ENSP00000413098:L897V;ENSP00000356154:L963V	ENSP00000356146:L897V	L	+	1	2	SCAF8	155195094	0.583000	0.26757	1.000000	0.80357	0.999000	0.98932	0.515000	0.22801	0.397000	0.25310	0.655000	0.94253	CTG	0	NULL		0.458	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	protein_coding	OTTHUMT00000042798.1	49	184	0	0.00	0	0	C	NM_014892	0	0		155153402	1	no_errors	ENST00000367186	ensembl	human	known	74_37	missense	27	157	46	45.14	23	130	SNP	0.996	G	G	155153402	C	G	155153402	3	3	64	1	0	0	0	0	1	0	0	0	13118	912	32	5	2767	5	RBM16	6	155153402	Missense_Mutation	SNP	C	TCGA-XM-AAZ2-01A-11D-A423-09		155153402	15961665	5	700											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	346	62	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	206	69	39.65	44.35	136	55	SNP	1	A	A	74146970	T	A	74146970	3	1	64	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-XM-AAZ2-01A-11D-A423-09		74146970	84991693	6	701											
HMX3	340784	genome.wustl.edu	37	chr10	124895626	124895627	+	Frame_Shift_Ins	INS	-	-	C																															cacagccccaaccgccgccgINSccccccccacccgctcccaa																										TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr10:124895626_124895627insC	ENST00000357878.5	+	1	149_150	c.60_61insC	c.(61-63)cccfs	p.P21fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	21	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AACCGCCGCCGCCCCCCCCACC	0.748																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"Homeoboxes / ANTP class : NKL subclass"	5019	protein-coding gene	gene with protein product		613380	"homeo box (H6 family) 3"				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.68dupC	10.37:g.124895634_124895634dupC	ENSP00000350549:p.Pro21fs		A8MU06	Frame_Shift_Ins	INS	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P23fs	ENST00000357878.5	37	c.60_61	CCDS41575.1	10																																																																																			0	NULL		0.748	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HMX3	protein_coding	OTTHUMT00000050842.4	17	27	0	0.00	0	0	0	XM_291716	0	0		124895627	1	no_errors	ENST00000357878	ensembl	human	known	74_37	frame_shift_ins	6	42	45.45	14.29	5	7	INS	0.958:0.997	C	C	124895627	-	C	124895626	7	5	64	1	0	1	1	0	0	0	0	0	7248	1074	38	0	62	0	HMX3	10	124895626	Frame_Shift_Ins	INS	-	TCGA-XM-AAZ2-01A-11D-A423-09		124895626	10639121	7	702											
OR5M9	390162	genome.wustl.edu	37	chr11	56230566	56230566	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagacctccacgtggacaacGgcaatgaaaaagtagcactg	15	6	10	10	2	0	2	0	1	0	1	1	3	1	3	2	2	2	3	2	2	6	2			TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr11:56230566G>A	ENST00000279791.1	-	1	311	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A104A(1)		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)					CGTGGACAACGGCAATGAAAA	0.473																																							0											1	Substitution - coding silent(1)	lung(1)											127	119	122					11																	56230566		2201	4296	6497	SO:0001819	synonymous_variant	0			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.312C>T	11.37:g.56230566G>A			Q6IEW5|Q96RB9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A104	ENST00000279791.1	37	c.312	CCDS31531.1	11																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.473	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M9	protein_coding	OTTHUMT00000391638.1	21	153	0	0.00	0	0	G	NM_001004743	0	0		56230566	-1	no_errors	ENST00000279791	ensembl	human	known	74_37	silent	10	102	44.44	42.46	8	76	SNP	0	A	A	56230566	G	A	56230566	2	1	64	1	0	0	0	0	0	0	0	1	11177	1103	39	2		2	OR5M9	11	56230566	Silent	SNP	G	TCGA-XM-AAZ2-01A-11D-A423-09		56230566	78775950	8	703											
CTSC	1075	genome.wustl.edu	37	chr11	88027335	88027335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgagtcagtgccatagcCcacaagcagaacagcatgat	13	6	11	11	0	1	3	1	2	0	1	1	3	1	3	2	1	5	3	2	1	3	1	rs553675331		TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr11:88027335C>T	ENST00000227266.5	-	7	1345	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	411					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTGCCATAGCCCACAAGCAGA	0.517																																							0											0													134	108	117					11																	88027335		2201	4299	6500	SO:0001583	missense	0			AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"Cathepsins"	2528	protein-coding gene	gene with protein product	"dipeptidyl peptidase 1"	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.1231G>A	11.37:g.88027335C>T	ENSP00000227266:p.Gly411Ser		A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.G411S	ENST00000227266.5	37	c.1231	CCDS8282.1	11	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628215	0.87560	.	.	ENSG00000109861	ENST00000393302;ENST00000227266	D	0.99338	-5.76	5.97	5.97	0.96955	Peptidase C1A, papain C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	H	0.98333	4.205	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	D	0.97326	0.9947	9	.	.	.	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	394;411	B4DJQ8;P53634	.;CATC_HUMAN	S	394;411	ENSP00000227266:G411S	.	G	-	1	0	CTSC	87666983	1.000000	0.71417	0.997000	0.53966	0.320000	0.28249	7.786000	0.85741	2.837000	0.97791	0.655000	0.94253	GGC	0	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C		0.517	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSC	protein_coding	OTTHUMT00000394019.2	42	110	0	0.00	0	0	C	NM_001814	0	0		88027335	-1	no_errors	ENST00000227266	ensembl	human	known	74_37	missense	22	86	43.59	33.33	17	43	SNP	1	T	T	88027335	C	T	88027335	3	4	64	1	0	0	0	0	1	0	0	0	4031	623	22	3	164	3	CTSC	11	88027335	Missense_Mutation	SNP	C	TCGA-XM-AAZ2-01A-11D-A423-09	31796769	88027335	46979181	9	704											
COL4A1	1282	genome.wustl.edu	37	chr13	110822103	110822103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggccccatgggtcccGgaagtcctaatggaagagaa	11	6	14	10	1	0	1	0	0	0	1	2	5	2	4	4	5	0	0	4	5	4	1			TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr13:110822103G>A	ENST00000375820.4	-	43	3870	c.3749C>T	c.(3748-3750)cCg>cTg	p.P1250L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1250	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)			CATGGGTCCCGGAAGTCCTAA	0.572																																							0											0													60	68	65					13																	110822103		2203	4300	6503	SO:0001583	missense	0			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.3749C>T	13.37:g.110822103G>A	ENSP00000364979:p.Pro1250Leu		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.P1250L	ENST00000375820.4	37	c.3749	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413585	0.83449	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.97731	-4.51	5.46	5.46	0.80206	.	0.188390	0.46145	D	0.000302	D	0.98498	0.9499	M	0.83384	2.64	0.80722	D	1	D	0.71674	0.998	P	0.58820	0.846	D	0.99267	1.0892	10	0.62326	D	0.03	.	18.3064	0.90184	0.0:0.0:1.0:0.0	.	1250	P02462	CO4A1_HUMAN	L	893;1250;899	ENSP00000364979:P1250L	ENSP00000364973:P893L	P	-	2	0	COL4A1	109620104	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.888000	0.69758	2.543000	0.85770	0.544000	0.68410	CCG	0	NULL		0.572	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	protein_coding	OTTHUMT00000045759.3	72	167	0	0.00	0	0	G		0	0		110822103	-1	no_errors	ENST00000375820	ensembl	human	known	74_37	missense	61	170	12.86	7.57	9	14	SNP	1	A	A	110822103	G	A	110822103	3	1	64	1	0	0	0	0	1	0	0	0	3689	1116	39	2	1300	2	COL4A1	13	110822103	Missense_Mutation	SNP	G	TCGA-XM-AAZ2-01A-11D-A423-09		110822103	4347775	10	705											
GYS1	2997	genome.wustl.edu	37	chr19	49477938	49477938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtggtcaggatggggTctgaggagtcatccagcata	9	9	17	6	0	3	1	2	1	1	0	4	4	4	4	1	7	1	1	1	7	1	1			TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr19:49477938T>C	ENST00000323798.3	-	11	1557	c.1361A>G	c.(1360-1362)gAc>gGc	p.D454G	GYS1_ENST00000263276.6_Missense_Mutation_p.D390G|GYS1_ENST00000541188.1_Missense_Mutation_p.D374G|GYS1_ENST00000544287.1_Missense_Mutation_p.D87G|GYS1_ENST00000540532.1_3'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	454					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CAGGATGGGGTCTGAGGAGTC	0.592																																							0											0													76	66	69					19																	49477938		2203	4300	6503	SO:0001583	missense	0				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1361A>G	19.37:g.49477938T>C	ENSP00000317904:p.Asp454Gly		Q9BTT9	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.D454G	ENST00000323798.3	37	c.1361	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	T	26.1	4.708685	0.89018	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	H	0.94183	3.505	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	0.91575	0.5274	10	0.87932	D	0	-39.0638	12.3811	0.55307	0.0:0.0:0.0:1.0	.	374;390;454	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	G	454;390;374;87	ENSP00000317904:D454G;ENSP00000263276:D390G;ENSP00000437922:D374G;ENSP00000444004:D87G	ENSP00000263276:D390G	D	-	2	0	GYS1	54169750	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.789000	0.85783	1.972000	0.57404	0.459000	0.35465	GAC	0	pfam_Glycogen_synth		0.592	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	protein_coding	OTTHUMT00000319791.1	54	81	0	0.00	0	0	T	NM_002103	0	0		49477938	-1	no_errors	ENST00000323798	ensembl	human	known	74_37	missense	38	62	20.83	30.34	10	27	SNP	1	C	C	49477938	T	C	49477938	3	2	64	1	0	0	0	0	1	0	0	0	6912	1667	58	3	876	3	GYS1	19	49477938	Missense_Mutation	SNP	T	TCGA-XM-AAZ2-01A-11D-A423-09		49477938	9651045	11	706											
PLXNB2	23654	genome.wustl.edu	37	chr22	50721178	50721178	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgaaggctcgcagtacGgggttttcgcggtaggtgaa	7	9	17	8	5	0	1	0	1	0	0	3	2	0	1	0	6	1	6	0	6	4	4			TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chr22:50721178G>C	ENST00000449103.1	-	18	3089	c.2949C>G	c.(2947-2949)ccC>ccG	p.P983P	PLXNB2_ENST00000359337.4_Silent_p.P983P|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	983	IPT/TIG 3.				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)		CTCGCAGTACGGGGTTTTCGC	0.682																																							0											0													23	30	28					22																	50721178		1945	4112	6057	SO:0001819	synonymous_variant	0				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.2949C>G	22.37:g.50721178G>C			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.P983	ENST00000449103.1	37	c.2949	CCDS43035.1	22																																																																																			0	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	protein_coding	OTTHUMT00000316874.3	169	117	0	0.00	0	0	G	NM_012401	0	0		50721178	-1	no_errors	ENST00000359337	ensembl	human	known	74_37	silent	78	75	37.6	38.02	47	46	SNP	0	C	C	50721178	G	C	50721178	2	2	64	1	0	0	0	0	0	0	0	1	12124	1103	39	5		5	PLXNB2	22	50721178	Silent	SNP	G	TCGA-XM-AAZ2-01A-11D-A423-09		50721178	583388	12	707											
CA5B	11238	genome.wustl.edu	37	chrX	15790686	15790686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cattttcactggggggccatCgatgcctggggttctgagca	6	11	14	10	1	2	1	1	1	1	0	3	2	2	1	2	5	2	2	2	5	0	3			TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chrX:15790686C>G	ENST00000318636.3	+	4	544	c.408C>G	c.(406-408)atC>atG	p.I136M	CA5B_ENST00000454127.2_Missense_Mutation_p.I136M	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	90						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)					GGGGGGCCATCGATGCCTGGG	0.507																																							0											0													171	154	160					X																	15790686		2203	4300	6503	SO:0001583	missense	0			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.408C>G	X.37:g.15790686C>G	ENSP00000314099:p.Ile136Met		A6NEZ4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.I136M	ENST00000318636.3	37	c.408	CCDS14171.1	X	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967038	0.53507	.	.	ENSG00000169239	ENST00000318636;ENST00000479740;ENST00000454127	T;T;T	0.67171	-0.24;-0.25;-0.24	5.6	-9.18	0.00688	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.149412	0.64402	D	0.000008	T	0.59211	0.2177	N	0.22421	0.69	0.09310	N	0.99999	D	0.63880	0.993	D	0.65987	0.94	T	0.68443	-0.5407	10	0.48119	T	0.1	-18.4968	11.1246	0.48310	0.1019:0.2469:0.0:0.6512	.	136	Q9Y2D0	CAH5B_HUMAN	M	136	ENSP00000314099:I136M;ENSP00000417553:I136M;ENSP00000417021:I136M	ENSP00000314099:I136M	I	+	3	3	CA5B	15700607	0.004000	0.15560	0.388000	0.26195	0.979000	0.70002	-1.128000	0.03247	-2.116000	0.00830	-0.853000	0.03031	ATC	0	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.507	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CA5B	protein_coding	OTTHUMT00000354933.1	30	117	0	0.00	0	0	C	NM_007220	0	0		15790686	1	no_errors	ENST00000318636	ensembl	human	known	74_37	missense	5	22	75	81.36	15	96	SNP	0.02	G	G	15790686	C	G	15790686	3	3	64	1	0	0	0	0	1	0	0	0	2520	874	31	5	418	5	CA5B	23	15790686	Missense_Mutation	SNP	C	TCGA-XM-AAZ2-01A-11D-A423-09		15790686	139479874	13	708											
MTMR8	55613	genome.wustl.edu	37	chrX	63488791	63488806	+	Frame_Shift_Del	DEL	TATTCAGGTCTCCATT	TATTCAGGTCTCCATT	-																															ggtgccattctccatcagggTattcaggtctccattgatac																								rs144545484	byFrequency	TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	TATTCAGGTCTCCATT	TATTCAGGTCTCCATT	TATTCAGGTCTCCATT	-	TATTCAGGTCTCCATT	TATTCAGGTCTCCATT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chrX:63488791_63488806delTATTCAGGTCTCCATT	ENST00000374852.3	-	14	1793_1808	c.1726_1741delAATGGAGACCTGAATA	c.(1726-1743)aatggagacctgaataccfs	p.NGDLNT576fs	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	576						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)|p.T581A(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TCCATCAGGGTATTCAGGTCTCCATTGATACCCATA	0.486																																							0											3	Whole gene deletion(2)|Substitution - Missense(1)	large_intestine(2)|ovary(1)																																								SO:0001589	frameshift_variant	0			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1726_1741delAATGGAGACCTGAATA	X.37:g.63488791_63488806delTATTCAGGTCTCCATT	ENSP00000363985:p.Asn576fs		Q5JT99|Q9NXP6	Frame_Shift_Del	DEL	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.N576fs	ENST00000374852.3	37	c.1741_1726	CCDS14379.1	X																																																																																			0	NULL		0.486	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	protein_coding	OTTHUMT00000056949.2	31	96	0	0.00	0	0	TATTCAGGTCTCCATT	NM_017677	0	0		63488806	-1	no_errors	ENST00000374852	ensembl	human	known	74_37	frame_shift_del	1	27	80	35.71	4	15	DEL	0.954:0.927:0.899:0.866:0.739:0.694:0.647:0.629:0.633:0.635:0.631:0.598:0.416:0.136:0.046:0.015	0	-	63488806	TATTCAGGTCTCCATT	-	63488791	7	5	64	1	0	1	0	1	0	0	0	0	9949	1638	57	0	377	0	MTMR8	23	63488791	Frame_Shift_Del	DEL	TATTCAGGTCTCCATT	TCGA-XM-AAZ2-01A-11D-A423-09	47698105	63488791	91781769	14	709			1	1		2	2	19	N	TATTCAGGTCTCCATT_T	9.303254e-06
MTMR8	55613	genome.wustl.edu	37	chrX	63488809	63488809	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtattcaggtctccattgaTacccataaagccaagaggat	13	10	9	9	0	2	2	1	1	1	1	3	3	2	3	3	3	2	1	3	3	5	5			TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chrX:63488809T>G	ENST00000374852.3	-	14	1790	c.1723A>C	c.(1723-1725)Atc>Ctc	p.I575L	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	575						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TCTCCATTGATACCCATAAAG	0.488																																							0											2	Whole gene deletion(2)	ovary(1)|large_intestine(1)											75	63	67					X																	63488809		2203	4300	6503	SO:0001583	missense	0			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1723A>C	X.37:g.63488809T>G	ENSP00000363985:p.Ile575Leu		Q5JT99|Q9NXP6	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.I575L	ENST00000374852.3	37	c.1723	CCDS14379.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.922|9.922	1.212519|1.212519	0.22289|0.22289	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000374852;ENST00000247400|ENST00000442913	D|.	0.94330|.	-3.4|.	2.6|2.6	0.198|0.198	0.15168|0.15168	.|.	0.351810|.	0.17952|.	U|.	0.156474|.	T|T	0.15089|0.15089	0.0364|0.0364	N|N	0.08118|0.08118	0|0	0.22446|0.22446	N|N	0.999093|0.999093	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.26883|0.26883	-1.0090|-1.0090	10|5	0.21014|.	T|.	0.42|.	.|.	4.2507|4.2507	0.10693|0.10693	0.0:0.3585:0.0:0.6415|0.0:0.3585:0.0:0.6415	.|.	575|.	Q96EF0|.	MTMR8_HUMAN|.	L|S	575;461|378	ENSP00000363985:I575L|.	ENSP00000247400:I461L|.	I|Y	-|-	1|2	0|0	MTMR8|MTMR8	63405534|63405534	0.312000|0.312000	0.24545|0.24545	0.227000|0.227000	0.23927|0.23927	0.973000|0.973000	0.67179|0.67179	0.317000|0.317000	0.19487|0.19487	-0.039000|-0.039000	0.13602|0.13602	0.430000|0.430000	0.28490|0.28490	ATC|TAT	0	NULL		0.488	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	protein_coding	OTTHUMT00000056949.2	26	103	0	0.00	0	0	T	NM_017677	0	0		63488809	-1	no_errors	ENST00000374852	ensembl	human	known	74_37	missense	1	27	88.89	43.75	8	21	SNP	0.229	G	G	63488809	T	G	63488809	3	3	64	1	0	0	0	0	1	0	0	0	9949	1406	49	5	395	5	MTMR8	23	63488809	Missense_Mutation	SNP	T	TCGA-XM-AAZ2-01A-11D-A423-09	18	63488809	91781751	15	710			1	1		2	2	19	N	TATTCAGGTCTCCATT_T	9.303254e-06
CTAG2	30848	genome.wustl.edu	37	chrX	153881625	153881625	+	Frame_Shift_Del	DEL	C	C	-																															cgcggggcgcctcctctcggCcccgaggcccttgctgcccc																										TCGA-XM-AAZ2-01A-11D-A423-09	TCGA-XM-AAZ2-12A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3c2d3ad3-94dd-44c5-8194-db4fd3d95d92	ddc16e80-95c0-4d7c-b180-cd34e2927be4	g.chrX:153881625delC	ENST00000247306.4	-	1	228	c.165delG	c.(163-165)gggfs	p.G55fs	CTAG2_ENST00000369585.3_Frame_Shift_Del_p.G55fs	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	55	Gly-rich.					centrosome (GO:0005813)				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)					CTCCTCTCGGCCCCGAGGCCC	0.761																																							0											0													10	12	11					X																	153881625		2073	4036	6109	SO:0001589	frameshift_variant	0			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.165delG	X.37:g.153881625delC	ENSP00000247306:p.Gly55fs		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Frame_Shift_Del	DEL	pfam_EKC/KEOPS_Pcc1	p.P56fs	ENST00000247306.4	37	c.165	CCDS14759.1	X																																																																																			0	NULL		0.761	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	CTAG2	protein_coding	OTTHUMT00000061176.1	9	0	0	0.00	0	0	C	NM_020994	0	0		153881625	-1	no_errors	ENST00000369585	ensembl	human	known	74_37	frame_shift_del	4	2	33.33	0.00	2	0	DEL	0	0	-	153881625	C	-	153881625	7	5	64	1	0	1	0	1	0	0	0	0	3991	726	26	0	614	0	CTAG2	23	153881625	Frame_Shift_Del	DEL	C	TCGA-XM-AAZ2-01A-11D-A423-09	90392816	153881625	1388935	16	711											
LPPR4	9890	genome.wustl.edu	37	chr1	99772387	99772387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaattaccaccatccgcGtcaccccagtagagggcagc	11	5	10	15	3	1	1	1	0	0	1	2	2	2	2	5	2	2	2	5	2	3	2			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr1:99772387G>A	ENST00000370185.3	+	7	2610	c.2113G>A	c.(2113-2115)Gtc>Atc	p.V705I	LPPR4_ENST00000457765.1_Missense_Mutation_p.V647I|LPPR4_ENST00000370184.1_Missense_Mutation_p.V547I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		705					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.V705I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CACCATCCGCGTCACCCCAGT	0.512																																							0											1	Substitution - Missense(1)	large_intestine(1)											65	57	60					1																	99772387		2203	4300	6503	SO:0001583	missense	0																														ENST00000370185.3:c.2113G>A	1.37:g.99772387G>A	ENSP00000359204:p.Val705Ile		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.V705I	ENST00000370185.3	37	c.2113	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603781	0.87157	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.27104	2.25;2.2;1.69	6.02	6.02	0.97574	.	0.416961	0.26761	N	0.022631	T	0.38401	0.1039	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.73708	0.981;0.543	T	0.01033	-1.1474	9	.	.	.	-36.1055	20.5407	0.99260	0.0:0.0:1.0:0.0	.	647;705	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	I	705;647;547	ENSP00000359204:V705I;ENSP00000394913:V647I;ENSP00000359203:V547I	.	V	+	1	0	RP4-788L13.1	99544975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.438000	0.97539	2.865000	0.98341	0.655000	0.94253	GTC	0	NULL		0.512	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	protein_coding	OTTHUMT00000029670.2	27	60	0	0.00	0	0	G		0	0		99772387	1	no_errors	ENST00000370185	ensembl	human	known	74_37	missense	19	109	42.42	41.40	14	77	SNP	1	A	A	99772387	G	A	99772387	3	1	65	1	0	0	0	0	1	0	0	0	8927	1145	40	1	2139	1	LPPR4	1	99772387	Missense_Mutation	SNP	G	TCGA-XM-AAZ3-01A-11D-A423-09		99772387	149478234	1	712											
SFT2D2	375035	genome.wustl.edu	37	chr1	168195362	168195362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgggcaggacacggaggaCcggagcggcctgtccgaggt	8	3	19	11	5	0	0	0	0	0	0	1	5	1	4	3	7	2	1	3	7	0	0			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr1:168195362C>G	ENST00000271375.4	+	1	117	c.45C>G	c.(43-45)gaC>gaG	p.D15E	SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Missense_Mutation_p.D15E|SFT2D2_ENST00000367825.3_Missense_Mutation_p.D15E	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					ACACGGAGGACCGGAGCGGCC	0.731																																							0											0													41	39	40					1																	168195362		1669	3141	4810	SO:0001583	missense	0			AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.45C>G	1.37:g.168195362C>G	ENSP00000271375:p.Asp15Glu			Missense_Mutation	SNP	pfam_Vesicle_transpt_Got1/SFT2	p.D15E	ENST00000271375.4	37	c.45	CCDS1271.1	1	.	.	.	.	.	.	.	.	.	.	C	1.760	-0.487116	0.04352	.	.	ENSG00000213064	ENST00000367829;ENST00000271375;ENST00000367825	T	0.38240	1.15	3.88	-0.648	0.11464	.	0.323861	0.25714	U	0.028787	T	0.02230	0.0069	N	0.01824	-0.7	0.29270	N	0.870743	B	0.06786	0.001	B	0.06405	0.002	T	0.37126	-0.9719	9	0.02654	T	1	-13.4537	3.325	0.07063	0.0:0.4185:0.2075:0.374	.	15	O95562	SFT2B_HUMAN	E	15	ENSP00000271375:D15E	ENSP00000271375:D15E	D	+	3	2	SFT2D2	166461986	0.998000	0.40836	0.996000	0.52242	0.688000	0.40055	0.075000	0.14686	0.219000	0.20840	0.313000	0.20887	GAC	0	NULL		0.731	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFT2D2	protein_coding	OTTHUMT00000083827.2	29	10	0	0.00	0	0	C	NM_199344	0	0		168195362	1	no_errors	ENST00000271375	ensembl	human	known	74_37	missense	41	33	22.64	10.81	12	4	SNP	0.995	G	G	168195362	C	G	168195362	3	3	65	1	0	0	0	0	1	0	0	0	14186	506	18	5	47	5	SFT2D2	1	168195362	Missense_Mutation	SNP	C	TCGA-XM-AAZ3-01A-11D-A423-09	68422975	168195362	81055259	2	713											
RASAL2	9462	genome.wustl.edu	37	chr1	178421661	178421661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcctcattatttctccGttttctgtgtccagccatta	6	17	6	12	1	3	0	1	0	2	0	5	0	4	0	4	0	2	1	4	0	2	5			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr1:178421661G>A	ENST00000462775.1	+	9	1564	c.1439G>A	c.(1438-1440)cGt>cAt	p.R480H	RASAL2_ENST00000367649.3_Missense_Mutation_p.R628H|RASAL2_ENST00000448150.3_Missense_Mutation_p.R610H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	480	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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						TTATTTCTCCGTTTTCTGTGT	0.483																																							0											0													292	249	264					1																	178421661		2203	4300	6503	SO:0001583	missense	0			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.1439G>A	1.37:g.178421661G>A	ENSP00000420558:p.Arg480His		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.R628H	ENST00000462775.1	37	c.1883	CCDS1322.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.263374	0.95399	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;T;D	0.89196	-2.48;1.29;-2.48	5.15	5.15	0.70609	Ras GTPase-activating protein, conserved site (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.96781	0.8949	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98348	1.0542	10	0.87932	D	0	.	18.6427	0.91400	0.0:0.0:1.0:0.0	.	480;628	Q9UJF2;F8W755	NGAP_HUMAN;.	H	610;628;480	ENSP00000407768:R610H;ENSP00000356621:R628H;ENSP00000420558:R480H	ENSP00000356621:R628H	R	+	2	0	RASAL2	176688284	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	9.731000	0.98807	2.381000	0.81170	0.557000	0.71058	CGT	0	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.483	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	protein_coding	OTTHUMT00000084758.3	13	52	0	0.00	0	0	G	NM_170692	0	0		178421661	1	no_errors	ENST00000367649	ensembl	human	known	74_37	missense	27	147	44.9	34.67	22	78	SNP	1	A	A	178421661	G	A	178421661	3	1	65	1	0	0	0	0	1	0	0	0	13064	1145	40	1	1942	1	RASAL2	1	178421661	Missense_Mutation	SNP	G	TCGA-XM-AAZ3-01A-11D-A423-09	10226299	178421661	70828960	3	714											
UGT1A3	54659	genome.wustl.edu	37	chr2	234638522	234638522	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggtggatattctcagTcatgcatctgtgtggctgtt	6	16	12	7	0	4	0	3	0	2	0	5	1	4	1	0	3	1	3	0	3	1	3	rs115983652	byFrequency	TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr2:234638522T>C	ENST00000482026.1	+	1	769	c.750T>C	c.(748-750)agT>agC	p.S250S	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.S250S|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	250					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)	ATATTCTCAGTCATGCATCTG	0.512																																							0											0													249	242	244					2																	234638522		2203	4300	6503	SO:0001819	synonymous_variant	0			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.750T>C	2.37:g.234638522T>C			B8K287	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S250	ENST00000482026.1	37	c.750	CCDS2509.1	2																																																																																			0	pfam_UDP_glucos_trans		0.512	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	protein_coding	OTTHUMT00000130983.1	58	9	0	0.00	0	0	T	NM_019093	rs115983652	T->C		234638522	1	no_errors	ENST00000482026	ensembl	human	known	74_37	silent	75	50	14.77	13.79	13	8	SNP	0	C	C	234638522	T	C	234638522	2	2	65	1	0	0	0	0	0	0	0	1	16943	1664	58	3		3	UGT1A3	2	234638522	Silent	SNP	T	TCGA-XM-AAZ3-01A-11D-A423-09		234638522	8560851	4	715			1	2		4	3	55	N	T_G_A	8.600804e-10
UGT1A3	54659	genome.wustl.edu	37	chr2	234638547	234638547	+	Missense_Mutation	SNP	G	G	C																															catctgtgtggctgttccgaGgggactttgtgatggactac																								rs149324549	byFrequency	TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr2:234638547G>C	ENST00000482026.1	+	1	794	c.775G>C	c.(775-777)Ggg>Cgg	p.G259R	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.G259R|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	259					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)	GCTGTTCCGAGGGGACTTTGT	0.502																																							0											0													204	201	202					2																	234638547		2203	4300	6503	SO:0001583	missense	0			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.775G>C	2.37:g.234638547G>C	ENSP00000418532:p.Gly259Arg		B8K287	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.G259R	ENST00000482026.1	37	c.775	CCDS2509.1	2	.	.	.	.	.	.	.	.	.	.	g	7.401	0.632710	0.14322	.	.	ENSG00000243135	ENST00000482026	T	0.61510	0.1	3.91	-1.15	0.09709	.	.	.	.	.	T	0.43964	0.1271	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.20184	0.028;0.028	T	0.43877	-0.9364	9	0.51188	T	0.08	.	0.9189	0.01311	0.1977:0.2228:0.3399:0.2396	.	259;259	Q5DT01;P35503	.;UD13_HUMAN	R	259	ENSP00000418532:G259R	ENSP00000418532:G259R	G	+	1	0	UGT1A3	234303286	0.000000	0.05858	0.795000	0.32087	0.872000	0.50106	-0.494000	0.06451	0.140000	0.18849	0.454000	0.30748	GGG	0	pfam_UDP_glucos_trans		0.502	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	protein_coding	OTTHUMT00000130983.1	65	12	0	0.00	0	0	G	NM_019093	rs149324549	G->C		234638547	1	no_errors	ENST00000482026	ensembl	human	known	74_37	missense	74	62	14.77	11.43	13	8	SNP	0.001	C	C	234638547	G	C	234638547	3	2	65	1	0	0	0	0	1	0	0	0	16943	1000	35	5	777	5	UGT1A3	2	234638547	Missense_Mutation	SNP	G	TCGA-XM-AAZ3-01A-11D-A423-09	25	234638547	8560826	5	716	3	2	1	2		4	3	55	N	T_G_A	8.600804e-10
UGT1A3	54659	genome.wustl.edu	37	chr2	234638555	234638555	+	Silent	SNP	T	T	C																															tggctgttccgaggggacttTgtgatggactaccccaggcc																								rs138129589		TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr2:234638555T>C	ENST00000482026.1	+	1	802	c.783T>C	c.(781-783)ttT>ttC	p.F261F	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.F261F|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	261					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)	GAGGGGACTTTGTGATGGACT	0.517																																							0											0													193	191	192					2																	234638555		2203	4300	6503	SO:0001819	synonymous_variant	0			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.783T>C	2.37:g.234638555T>C			B8K287	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.F261	ENST00000482026.1	37	c.783	CCDS2509.1	2																																																																																			0	pfam_UDP_glucos_trans		0.517	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	protein_coding	OTTHUMT00000130983.1	64	12	0	0.00	0	0	T	NM_019093	rs138129589	T->C		234638555	1	no_errors	ENST00000482026	ensembl	human	known	74_37	silent	74	64	15.91	11.11	14	8	SNP	1	C	C	234638555	T	C	234638555	2	2	65	1	0	0	0	0	0	0	0	1	16943	1809	63	3		3	UGT1A3	2	234638555	Silent	SNP	T	TCGA-XM-AAZ3-01A-11D-A423-09	8	234638555	8560818	6	717	3	2	1	2		4	3	55	N	T_G_A	8.600804e-10
UGT1A3	54659	genome.wustl.edu	37	chr2	234638576	234638576	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggactaccccaggccAatcatgcccaacatggtctt	10	9	9	13	0	2	1	1	1	1	0	2	2	2	2	4	3	3	0	4	3	3	2	rs530125998	byFrequency	TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr2:234638576A>G	ENST00000482026.1	+	1	823	c.804A>G	c.(802-804)ccA>ccG	p.P268P	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.P268P|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	268					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)	ACCCCAGGCCAATCATGCCCA	0.507													A|||	40	0.00798722	0.0113	0	5008	,	,		17575	0.0109		0	False		,,,				2504	0.0143						0											0													151	152	151					2																	234638576		2203	4300	6503	SO:0001819	synonymous_variant	0			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.804A>G	2.37:g.234638576A>G			B8K287	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.P268	ENST00000482026.1	37	c.804	CCDS2509.1	2																																																																																			0	pfam_UDP_glucos_trans		0.507	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	protein_coding	OTTHUMT00000130983.1	61	13	0	0.00	0	0	A	NM_019093	rs530125998	A->G		234638576	1	no_errors	ENST00000482026	ensembl	human	known	74_37	silent	68	67	15	8.22	12	6	SNP	0.29	G	G	234638576	A	G	234638576	2	3	65	1	0	0	0	0	0	0	0	1	16943	117	5	3		3	UGT1A3	2	234638576	Silent	SNP	A	TCGA-XM-AAZ3-01A-11D-A423-09	21	234638576	8560797	7	718			1	2		4	3	55	N	T_G_A	8.600804e-10
GNL3	26354	genome.wustl.edu	37	chr3	52728247	52728247	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttatcttggataaaatcAttgaagaggatgatgcttat	13	16	8	4	0	2	3	1	2	1	1	2	5	2	5	0	2	1	1	0	2	5	6			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr3:52728247A>G	ENST00000418458.1	+	15	1779	c.1606A>G	c.(1606-1608)Att>Gtt	p.I536V	GLT8D1_ENST00000463827.1_5'Flank|GNL3_ENST00000394799.2_Missense_Mutation_p.I524V|SNORD69_ENST00000391150.1_RNA|SNORD19_ENST00000410413.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	536	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)		GGATAAAATCATTGAAGAGGA	0.303																																							0											0													55	63	60					3																	52728247		2203	4300	6503	SO:0001583	missense	0			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.1606A>G	3.37:g.52728247A>G	ENSP00000395772:p.Ile536Val		B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	pfam_Gnl3_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.I536V	ENST00000418458.1	37	c.1606	CCDS2861.1	3	.	.	.	.	.	.	.	.	.	.	A	5.604	0.296219	0.10622	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.16597	2.33;2.33	5.63	0.00696	0.14069	.	1.210750	0.05536	N	0.564836	T	0.07279	0.0184	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.36359	-0.9751	10	0.20046	T	0.44	.	1.1249	0.01732	0.3935:0.2982:0.1646:0.1437	.	536	Q9BVP2	GNL3_HUMAN	V	536;524	ENSP00000395772:I536V;ENSP00000378278:I524V	ENSP00000378278:I524V	I	+	1	0	GNL3	52703287	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.445000	0.21677	0.126000	0.18424	0.533000	0.62120	ATT	0	NULL		0.303	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	protein_coding	OTTHUMT00000352032.1	27	33	0	0.00	0	0	A	NM_014366	0	0		52728247	1	no_errors	ENST00000418458	ensembl	human	known	74_37	missense	29	45	38.3	48.31	18	43	SNP	0	G	G	52728247	A	G	52728247	3	3	65	1	0	0	0	0	1	0	0	0	6537	217	8	3	1664	3	GNL3	3	52728247	Missense_Mutation	SNP	A	TCGA-XM-AAZ3-01A-11D-A423-09		52728247	145294183	8	719											
GRAMD1C	54762	genome.wustl.edu	37	chr3	113658830	113658830	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtctccgcctccaagaaGagaaatctttaaagtaagtc	14	9	7	11	2	2	2	0	0	2	2	5	3	3	2	4	0	0	1	4	0	6	3			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr3:113658830G>T	ENST00000358160.4	+	16	2281	c.1789G>T	c.(1789-1791)Gag>Tag	p.E597*	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Nonsense_Mutation_p.E392*|GRAMD1C_ENST00000472026.1_Nonsense_Mutation_p.E430*|GRAMD1C_ENST00000452134.2_Nonsense_Mutation_p.E326*	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	597						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CCTCCAAGAAGAGAAATCTTT	0.368																																							0											0													126	122	123					3																	113658830		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1789G>T	3.37:g.113658830G>T	ENSP00000350881:p.Glu597*		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Nonsense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E597*	ENST00000358160.4	37	c.1789	CCDS33826.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.036993	0.98621	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000440446	.	.	.	5.53	5.53	0.82687	.	0.241866	0.41823	D	0.000803	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	10.7928	0.46443	0.0866:0.0:0.9134:0.0	.	.	.	.	X	597;326;430;392	.	ENSP00000350881:E597X	E	+	1	0	GRAMD1C	115141520	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.632000	0.54287	2.775000	0.95449	0.650000	0.86243	GAG	0	NULL		0.368	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	protein_coding	OTTHUMT00000354733.1	36	89	0	0.00	0	0	G	NM_017577	0	0		113658830	1	no_errors	ENST00000358160	ensembl	human	known	74_37	nonsense	31	175	45.61	41.67	26	125	SNP	1	T	T	113658830	G	T	113658830	4	4	65	1	0	0	0	0	0	1	0	0	6749	943	33	5	1851	5	GRAMD1C	3	113658830	Nonsense_Mutation	SNP	G	TCGA-XM-AAZ3-01A-11D-A423-09	60930583	113658830	84363600	9	720											
PARL	55486	genome.wustl.edu	37	chr3	183560151	183560151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactatgctggaagagaagCtccacaaaacatacatattt	16	10	6	9	0	1	1	1	0	0	1	2	3	2	2	1	1	4	2	1	1	7	4			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr3:183560151C>A	ENST00000317096.4	-	6	752	c.692G>T	c.(691-693)aGc>aTc	p.S231I	PARL_ENST00000311101.5_Intron|PARL_ENST00000435888.1_Intron	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	231					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)			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)			GGAAGAGAAGCTCCACAAAAC	0.418																																							0											0													140	134	136					3																	183560151		2203	4300	6503	SO:0001583	missense	0			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.692G>T	3.37:g.183560151C>A	ENSP00000325421:p.Ser231Ile		Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom	p.S231I	ENST00000317096.4	37	c.692	CCDS3248.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.421925|4.421925	0.83559|0.83559	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000417784|ENST00000317096;ENST00000450375	.|T;T	.|0.12672	.|2.66;2.66	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Peptidase S54, rhomboid domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22898|0.22898	0.0553|0.0553	L|L	0.39326|0.39326	1.205|1.205	0.80722|0.80722	D|D	1|1	.|P	.|0.40834	.|0.73	.|P	.|0.53722	.|0.733	T|T	0.01242|0.01242	-1.1408|-1.1408	5|10	.|0.08179	.|T	.|0.78	-31.0931|-31.0931	19.3625|19.3625	0.94446|0.94446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|231	.|Q9H300	.|PARL_HUMAN	D|I	22|231;11	.|ENSP00000325421:S231I;ENSP00000402689:S11I	.|ENSP00000325421:S231I	E|S	-|-	3|2	2|0	PARL|PARL	185042845|185042845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.228000|3.228000	0.51270|0.51270	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GAG|AGC	0	pfam_Peptidase_S54_rhomboid_dom		0.418	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARL	protein_coding	OTTHUMT00000346465.1	28	5	0	0.00	0	0	C	NM_018622	0	0		183560151	-1	no_errors	ENST00000317096	ensembl	human	known	74_37	missense	34	32	12.82	5.88	5	2	SNP	1	A	A	183560151	C	A	183560151	3	1	65	1	0	0	0	0	1	0	0	0	11451	797	28	5	467	5	PARL	3	183560151	Missense_Mutation	SNP	C	TCGA-XM-AAZ3-01A-11D-A423-09	69901321	183560151	14462279	10	721											
NR3C2	4306	genome.wustl.edu	37	chr4	149075761	149075761	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcctgctaagcggttgAgcgtggagagcagattttcg	7	12	15	7	3	0	3	0	1	0	2	1	4	0	3	1	2	5	4	1	2	1	5			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr4:149075761A>C	ENST00000358102.3	-	5	2668	c.2306T>G	c.(2305-2307)cTc>cGc	p.L769R	NR3C2_ENST00000355292.3_Missense_Mutation_p.L773R|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Missense_Mutation_p.L769R|NR3C2_ENST00000512865.1_Intron|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Missense_Mutation_p.L773R	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	769	Steroid-binding.		L -> P (in PHA1A). {ECO:0000269|PubMed:16972228}.		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)	TAAGCGGTTGAGCGTGGAGAG	0.478																																					Melanoma(27;428 957 40335 51025 51111)		0											0													188	190	189					4																	149075761		2203	4300	6503	SO:0001583	missense	0			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.2306T>G	4.37:g.149075761A>C	ENSP00000350815:p.Leu769Arg		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	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	p.L773R	ENST00000358102.3	37	c.2318	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708532	0.89018	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000511528	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	M	0.92833	3.35	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99667	1.0995	9	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	769	B0ZBF6	.	R	769;773;769;773	ENSP00000341390:L769R;ENSP00000347441:L773R;ENSP00000350815:L769R;ENSP00000421481:L773R	.	L	-	2	0	NR3C2	149295211	1.000000	0.71417	0.618000	0.29105	0.996000	0.88848	9.326000	0.96389	2.254000	0.74563	0.533000	0.62120	CTC	0	superfamily_Nucl_hormone_rcpt_ligand-bd		0.478	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	protein_coding	OTTHUMT00000364986.1	47	67	0	1.47	0	1	A		0	0		149075761	-1	no_errors	ENST00000355292	ensembl	human	known	74_37	missense	41	141	48.1	40.42	38	97	SNP	1	C	C	149075761	A	C	149075761	3	2	65	1	0	0	0	0	1	0	0	0	10631	304	11	5	668	5	NR3C2	4	149075761	Missense_Mutation	SNP	A	TCGA-XM-AAZ3-01A-11D-A423-09		149075761	42078515	11	722											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	180	33	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	155	84	48.68	45.81	148	71	SNP	1	A	A	74146970	T	A	74146970	3	1	65	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-XM-AAZ3-01A-11D-A423-09		74146970	84991693	12	723											
XKR4	114786	genome.wustl.edu	37	chr8	56270428	56270428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacagactcatagcttacagGccctccaaggtaagggcttg	11	9	10	11	0	1	1	1	0	0	1	2	1	2	1	2	3	3	3	2	3	5	5			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr8:56270428G>C	ENST00000327381.6	+	2	1097	c.997G>C	c.(997-999)Gcc>Ccc	p.A333P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	333						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)			TAGCTTACAGGCCCTCCAAGG	0.478																																							0											0													85	75	79					8																	56270428		2203	4300	6503	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.997G>C	8.37:g.56270428G>C	ENSP00000328326:p.Ala333Pro		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.A333P	ENST00000327381.6	37	c.997	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168150	0.57476	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.63255	-0.03	5.96	5.96	0.96718	.	0.103094	0.64402	D	0.000003	T	0.50633	0.1627	L	0.31294	0.92	0.51012	D	0.999908	B	0.18166	0.026	B	0.18561	0.022	T	0.41448	-0.9508	10	0.35671	T	0.21	-11.3829	13.5936	0.61975	0.0705:0.0:0.9295:0.0	.	333	Q5GH76	XKR4_HUMAN	P	333	ENSP00000328326:A333P	ENSP00000328326:A333P	A	+	1	0	XKR4	56432982	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.955000	0.56715	2.831000	0.97527	0.650000	0.86243	GCC	0	pfam_Transport_prot_XK		0.478	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	protein_coding	OTTHUMT00000378129.2	31	47	0	0.00	0	0	G	NM_052898	0	0		56270428	1	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	27	122	44.9	39.30	22	79	SNP	1	C	C	56270428	G	C	56270428	3	2	65	1	0	0	0	0	1	0	0	0	17430	1203	42	5	1003	5	XKR4	8	56270428	Missense_Mutation	SNP	G	TCGA-XM-AAZ3-01A-11D-A423-09		56270428	90093594	13	724											
POLE3	54107	genome.wustl.edu	37	chr9	116171911	116171911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccagagcttctttcaatgGggtaacgaaccgctggaact	10	11	10	10	2	2	1	1	0	1	1	3	3	3	2	2	3	4	3	2	3	4	4			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr9:116171911G>A	ENST00000374171.4	-	4	420	c.250C>T	c.(250-252)Cca>Tca	p.P84S	POLE3_ENST00000374169.3_Missense_Mutation_p.P84S|POLE3_ENST00000479871.1_5'UTR|C9orf43_ENST00000288462.4_5'Flank|C9orf43_ENST00000374165.1_5'Flank	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit	84					DNA replication (GO:0006260)|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)			large_intestine(2)|lung(1)	3					Cladribine(DB00242)	TCTTTCAATGGGGTAACGAAC	0.498																																							0											0													108	93	98					9																	116171911		2203	4300	6503	SO:0001583	missense	0			AF261689	CCDS6795.1	9q33	2012-05-18	2012-05-18		ENSG00000148229	ENSG00000148229		"DNA polymerases"	13546	protein-coding gene	gene with protein product	"histone fold protein CHRAC17", "DNA polymerase epsilon p17 subunit", "chromatin accessibility complex 17", "arsenic transactivated protein"	607267	"polymerase (DNA directed), epsilon 3 (p17 subunit)"			10801849, 10880450	Standard	NM_017443		Approved	CHRAC17, Ybl1, p17, CHARAC17	uc031tet.1	Q9NRF9	OTTHUMG00000020523	ENST00000374171.4:c.250C>T	9.37:g.116171911G>A	ENSP00000363286:p.Pro84Ser		Q5W0U1|Q8N758|Q8NCE5|Q9NR32	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,superfamily_Histone-fold	p.P84S	ENST00000374171.4	37	c.250	CCDS6795.1	9	.	.	.	.	.	.	.	.	.	.	G	9.231	1.035757	0.19590	.	.	ENSG00000148229	ENST00000374171;ENST00000374169	T;T	0.23147	1.92;1.92	5.36	4.47	0.54385	Histone-fold (2);	0.053764	0.85682	D	0.000000	T	0.20981	0.0505	L	0.43152	1.355	0.58432	D	0.999999	P	0.37663	0.604	B	0.32533	0.147	T	0.04708	-1.0932	10	0.87932	D	0	0.7083	11.1752	0.48595	0.0849:0.0:0.9151:0.0	.	84	Q9NRF9	DPOE3_HUMAN	S	84	ENSP00000363286:P84S;ENSP00000363284:P84S	ENSP00000363284:P84S	P	-	1	0	POLE3	115211732	1.000000	0.71417	0.086000	0.20670	0.047000	0.14425	8.703000	0.91344	1.511000	0.48818	-0.251000	0.11542	CCA	0	superfamily_Histone-fold		0.498	POLE3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	POLE3	protein_coding	OTTHUMT00000053730.1	22	66	0	0.00	0	0	G	NM_017443	0	0		116171911	-1	no_errors	ENST00000374169	ensembl	human	known	74_37	missense	30	156	45.45	47.83	25	143	SNP	0.988	A	A	116171911	G	A	116171911	3	1	65	1	0	0	0	0	1	0	0	0	12198	1232	43	3	201	3	POLE3	9	116171911	Missense_Mutation	SNP	G	TCGA-XM-AAZ3-01A-11D-A423-09		116171911	25041520	14	725											
SPTAN1	6709	genome.wustl.edu	37	chr9	131369929	131369929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgggggttggtgtcctcaGatgagctagccaaggatgtc	8	10	15	8	1	1	2	1	1	0	1	3	3	2	3	2	4	3	2	2	4	3	3	rs144804532		TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr9:131369929G>A	ENST00000372731.4	+	32	4203	c.4093G>A	c.(4093-4095)Gat>Aat	p.D1365N	SPTAN1_ENST00000358161.5_Missense_Mutation_p.D1365N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.D1365N	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1365					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						GGTGTCCTCAGATGAGCTAGC	0.532																																					NSCLC(120;833 1744 2558 35612 37579)		0											0													175	172	173					9																	131369929		2203	4300	6503	SO:0001583	missense	0			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.4093G>A	9.37:g.131369929G>A	ENSP00000361816:p.Asp1365Asn		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.D1365N	ENST00000372731.4	37	c.4093	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583597	0.65992	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51071	0.72;0.72;0.72	5.63	4.74	0.60224	.	0.047872	0.85682	D	0.000000	T	0.45538	0.1347	L	0.53561	1.675	0.80722	D	1	B;B;B	0.23806	0.091;0.014;0.017	B;B;B	0.25759	0.063;0.02;0.035	T	0.38972	-0.9636	10	0.40728	T	0.16	.	14.7831	0.69781	0.0694:0.0:0.9306:0.0	.	1345;1365;1365	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	N	1365;1365;1365;1345	ENSP00000350882:D1365N;ENSP00000361816:D1365N;ENSP00000361824:D1365N	ENSP00000350882:D1365N	D	+	1	0	SPTAN1	130409750	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	9.420000	0.97426	1.524000	0.49035	0.655000	0.94253	GAT	0	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.532	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	protein_coding	OTTHUMT00000054472.1	26	38	0	0.00	0	0	G	NM_003127	0	0		131369929	1	no_errors	ENST00000358161	ensembl	human	known	74_37	missense	32	90	34.69	42.31	17	66	SNP	1	A	A	131369929	G	A	131369929	3	1	65	1	0	0	0	0	1	0	0	0	15116	942	33	3	4215	3	SPTAN1	9	131369929	Missense_Mutation	SNP	G	TCGA-XM-AAZ3-01A-11D-A423-09	15198018	131369929	9843502	15	726											
HRAS	3265	genome.wustl.edu	37	chr11	534286	534286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcactcttgcccacacCgccggcgcccaccaccacca	8	3	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	1	7	1	0	1	rs104894228		TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr11:534286C>G	ENST00000451590.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000417302.1_Missense_Mutation_p.G13R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;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)		TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	88	Substitution - Missense(87)|Insertion - In frame(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1)	GRCh37	CM060018	HRAS	M	rs104894228						85	80	82					11																	534286		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.37G>C	11.37:g.534286C>G	ENSP00000407586:p.Gly13Arg		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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.G13R	ENST00000451590.1	37	c.37	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589995	0.66105	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.967;0.981	D	0.86952	0.2086	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	R	13	ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R	ENSP00000309845:G13R	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT	0	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		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	36	31	0	0.00	0	0	C	NM_176795	rs104894228	C->A,G,T		534286	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	23	58	54	38.54	27	37	SNP	1	G	G	534286	C	G	534286	3	3	65	1	0	0	0	0	1	0	0	0	7348	652	23	5	615	5	HRAS	11	534286	Missense_Mutation	SNP	C	TCGA-XM-AAZ3-01A-11D-A423-09		534286	134472230	16	727											
FAM160A2	84067	genome.wustl.edu	37	chr11	6233063	6233063	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggactgtgtgcatgccgcagGagtaactcccccaaggatgg	9	7	14	11	1	0	0	0	0	0	0	1	3	1	3	3	4	3	3	3	4	2	1			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr11:6233063G>A	ENST00000449352.2	-	12	2855	c.2592C>T	c.(2590-2592)ctC>ctT	p.L864L	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_Silent_p.L878L			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	864					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)		p.L878L(1)		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						CATGCCGCAGGAGTAACTCCC	0.617																																							0											1	Substitution - coding silent(1)	kidney(1)											95	105	101					11																	6233063		2200	4295	6495	SO:0001819	synonymous_variant	0				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.2592C>T	11.37:g.6233063G>A			Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	pfam_RetinoicA-induced_16-like	p.L878	ENST00000449352.2	37	c.2634	CCDS44530.1	11																																																																																			0	NULL		0.617	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	protein_coding	OTTHUMT00000383759.1	46	39	0	0.00	0	0	G	NM_032127	0	0		6233063	-1	no_errors	ENST00000265978	ensembl	human	known	74_37	silent	20	77	55.56	45.00	25	63	SNP	0.999	A	A	6233063	G	A	6233063	2	1	65	1	0	0	0	0	0	0	0	1	5469	1161	41	3		3	FAM160A2	11	6233063	Silent	SNP	G	TCGA-XM-AAZ3-01A-11D-A423-09	5698777	6233063	128773453	17	728											
ODZ4	26011	genome.wustl.edu	37	chr11	78600855	78600856	+	Frame_Shift_Ins	INS	-	-	A																															agtatgccagcaggatgaccINSagagtggctgagatgacgat																										TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr11:78600855_78600856insA	ENST00000278550.7	-	9	1520_1521	c.1058_1059insT	c.(1057-1059)ctgfs	p.L353fs		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	353					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)										GCAGGATGACCAGAGTGGCTGA	0.599																																							0											0																																										SO:0001589	frameshift_variant	0			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.1059dupT	11.37:g.78600856_78600856dupA	ENSP00000278550:p.Leu353fs		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Frame_Shift_Ins	INS	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.V354fs	ENST00000278550.7	37	c.1059_1058	CCDS44688.1	11																																																																																			0	NULL		0.599	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	24	24	0	0.00	0	0	0		0	0		78600856	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	frame_shift_ins	24	70	33.33	39.66	12	46	INS	0.997:1.000	A	A	78600856	-	A	78600855	7	5	65	1	0	1	1	0	0	0	0	0	10837	581	21	0	7354	0	ODZ4	11	78600855	Frame_Shift_Ins	INS	-	TCGA-XM-AAZ3-01A-11D-A423-09	72367792	78600855	56405661	18	729											
C1QTNF5	114902	genome.wustl.edu	37	chr11	119210522	119210522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccccgcgggtcccgcctctCctcgcggcccggggtcccct	0	6	13	22	6	1	0	0	0	1	0	5	0	3	0	8	4	0	0	8	4	0	0			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr11:119210522C>T	ENST00000528368.1	-	3	482	c.251G>A	c.(250-252)gGa>gAa	p.G84E	C1QTNF5_ENST00000445041.2_Missense_Mutation_p.G84E|MFRP_ENST00000555262.1_3'UTR|RP11-334E6.10_ENST00000501918.2_RNA|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	84	Collagen-like.					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)		TCCCGCCTCTCCTCGCGGCCC	0.786																																							0											0													3	4	3					11																	119210522		1306	2946	4252	SO:0001583	missense	0			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.251G>A	11.37:g.119210522C>T	ENSP00000431140:p.Gly84Glu		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.G84E	ENST00000528368.1	37	c.251	CCDS8420.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.219668	0.95139	.	.	ENSG00000223953	ENST00000528368;ENST00000445041	D;D	0.99619	-6.28;-6.28	3.64	3.64	0.41730	.	0.000000	0.85682	U	0.000000	D	0.99664	0.9875	H	0.94345	3.525	0.80722	D	1	.	.	.	.	.	.	D	0.97432	1.0016	8	0.87932	D	0	.	13.6791	0.62472	0.0:1.0:0.0:0.0	.	.	.	.	E	84	ENSP00000431140:G84E;ENSP00000402389:G84E	ENSP00000402389:G84E	G	-	2	0	C1QTNF5	118715732	0.994000	0.37717	1.000000	0.80357	0.936000	0.57629	4.482000	0.60257	1.862000	0.54008	0.313000	0.20887	GGA	0	pfam_Collagen		0.786	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF5	protein_coding	OTTHUMT00000388354.1	11	10	0	0.00	0	0	C	NM_015645	0	0		119210522	-1	no_errors	ENST00000445041	ensembl	human	known	74_37	missense	8	9	27.27	40.00	3	6	SNP	1	T	T	119210522	C	T	119210522	3	4	65	1	0	0	0	0	1	0	0	0	1966	855	30	3	484	3	C1QTNF5	11	119210522	Missense_Mutation	SNP	C	TCGA-XM-AAZ3-01A-11D-A423-09	40609667	119210522	15795994	19	730											
CACNA1H	8912	genome.wustl.edu	37	chr16	1250488	1250488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaaccagtactacaacGtgtgccgctcgggtgactcc	9	8	11	13	3	0	1	0	1	0	0	2	2	1	2	3	2	5	2	3	2	4	2			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr16:1250488G>A	ENST00000348261.5	+	7	1284	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V346M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V346M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	346					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)	GTACTACAACGTGTGCCGCTC	0.637																																							0											0													55	61	59					16																	1250488		2145	4228	6373	SO:0001583	missense	0			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.1036G>A	16.37:g.1250488G>A	ENSP00000334198:p.Val346Met		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.V346M	ENST00000348261.5	37	c.1036	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130697	0.77549	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96745	-4.11;-4.06	4.4	4.4	0.53042	Ion transport (1);	0.262244	0.30584	N	0.009305	D	0.96046	0.8712	L	0.48642	1.525	0.25707	N	0.985525	D;D	0.69078	0.996;0.997	P;P	0.58780	0.759;0.845	D	0.91061	0.4885	10	0.51188	T	0.08	.	11.7386	0.51780	0.0892:0.0:0.9108:0.0	.	346;346	O95180-2;O95180	.;CAC1H_HUMAN	M	346	ENSP00000334198:V346M;ENSP00000351401:V346M	ENSP00000334198:V346M	V	+	1	0	CACNA1H	1190489	0.016000	0.18221	1.000000	0.80357	0.992000	0.81027	1.469000	0.35343	2.275000	0.75901	0.586000	0.80456	GTG	0	pfam_Ion_trans_dom		0.637	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	protein_coding	OTTHUMT00000421601.1	57	51	0	0.00	0	0	G	NM_001005407	0	0		1250488	1	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	45	100	47.67	45.11	41	83	SNP	1	A	A	1250488	G	A	1250488	3	1	65	1	0	0	0	0	1	0	0	0	2545	1145	40	1	1058	1	CACNA1H	16	1250488	Missense_Mutation	SNP	G	TCGA-XM-AAZ3-01A-11D-A423-09		1250488	89104265	20	731											
DNAH3	55567	genome.wustl.edu	37	chr16	21065834	21065834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaatctgcgcaatctgatCattgctctttttcagaaaat	12	14	6	9	1	5	2	2	1	3	1	5	3	5	2	0	0	2	2	0	0	4	3			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr16:21065834C>T	ENST00000261383.3	-	28	3945	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1316N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1316	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)	p.D1316H(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)		GCAATCTGATCATTGCTCTTT	0.532																																							0											2	Substitution - Missense(2)	lung(2)											74	61	65					16																	21065834		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3946G>A	16.37:g.21065834C>T	ENSP00000261383:p.Asp1316Asn		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.D1316N	ENST00000261383.3	37	c.3946	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307949	0.23821	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61627	0.09;0.09	5.78	1.48	0.22813	.	0.968178	0.08547	N	0.929689	T	0.39937	0.1097	L	0.31065	0.9	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24012	-1.0172	10	0.18276	T	0.48	.	5.2501	0.15517	0.0:0.2995:0.378:0.3224	.	1316	Q8TD57	DYH3_HUMAN	N	1316	ENSP00000261383:D1316N;ENSP00000394245:D1316N	ENSP00000261383:D1316N	D	-	1	0	DNAH3	20973335	0.000000	0.05858	0.882000	0.34594	0.996000	0.88848	-0.143000	0.10296	0.909000	0.36697	0.591000	0.81541	GAT	0	superfamily_P-loop_NTPase		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	36	44	0	0.00	0	0	C	NM_017539	0	0		21065834	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	33	91	34	28.91	17	37	SNP	0.001	T	T	21065834	C	T	21065834	3	4	65	1	0	0	0	0	1	0	0	0	4603	826	29	3	8543	3	DNAH3	16	21065834	Missense_Mutation	SNP	C	TCGA-XM-AAZ3-01A-11D-A423-09	19815346	21065834	69288919	21	732											
ITGAE	3682	genome.wustl.edu	37	chr17	3651341	3651341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaggcgaaccacaggcCgggagctaaacaagacagca	14	3	11	13	2	1	1	1	0	0	1	1	3	1	2	3	3	4	2	3	3	4	2			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr17:3651341C>T	ENST00000263087.4	-	17	2128	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	677					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)		AACCACAGGCCGGGAGCTAAA	0.542																																					NSCLC(182;635 2928 8995 38788)		0											0													57	54	55					17																	3651341		2203	4300	6503	SO:0001583	missense	0			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.2030G>A	17.37:g.3651341C>T	ENSP00000263087:p.Arg677Gln		Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.R677Q	ENST00000263087.4	37	c.2030	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	C	8.939	0.965242	0.18583	.	.	ENSG00000083457	ENST00000263087	T	0.68181	-0.31	4.68	1.58	0.23477	Integrin alpha-2 (1);	.	.	.	.	T	0.68210	0.2976	M	0.76002	2.32	0.27345	N	0.956396	D	0.61697	0.99	P	0.51101	0.659	T	0.58086	-0.7698	9	0.19147	T	0.46	.	7.3831	0.26868	0.0:0.7202:0.0:0.2798	.	677	P38570	ITAE_HUMAN	Q	677	ENSP00000263087:R677Q	ENSP00000263087:R677Q	R	-	2	0	ITGAE	3598090	0.856000	0.29760	0.916000	0.36221	0.800000	0.45204	0.061000	0.14366	0.281000	0.22233	-0.145000	0.13849	CGG	0	pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha		0.542	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	protein_coding	OTTHUMT00000438169.1	22	15	0	0.00	0	0	C	NM_002208	0	0		3651341	-1	no_errors	ENST00000263087	ensembl	human	known	74_37	missense	13	78	56.67	43.07	17	59	SNP	0.966	T	T	3651341	C	T	3651341	3	4	65	1	0	0	0	0	1	0	0	0	7885	652	23	2	1569	2	ITGAE	17	3651341	Missense_Mutation	SNP	C	TCGA-XM-AAZ3-01A-11D-A423-09		3651341	77543869	22	733											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62855863	62855863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactgatcacctggggaCgagagcaatgggtaattgaa	14	8	12	7	1	2	3	2	2	0	1	2	5	2	4	1	3	2	2	1	3	4	2	rs369882842		TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr17:62855863C>T	ENST00000584306.1	-	11	4931	c.4401G>A	c.(4399-4401)tcG>tcA	p.S1467S	LRRC37A3_ENST00000334962.5_Silent_p.S444S|LRRC37A3_ENST00000339474.5_Silent_p.S585S|LRRC37A3_ENST00000400877.3_Silent_p.S505S|LRRC37A3_ENST00000319651.5_Silent_p.S1467S	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1467						integral component of membrane (GO:0016021)		p.S1467S(2)		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						CACCTGGGGACGAGAGCAATG	0.488													-|||	1	0.000199681	0	0	5008	,	,		19098	0.001		0	False		,,,				2504	0						0.9998,0.0001997											2	Substitution - coding silent(2)	large_intestine(1)|lung(1)						C		1,4405		0,1,2202	136	142	140		4401	-1.7	0	17		140	2,8594		0,2,4296	no	coding-synonymous	LRRC37A3	NM_199340.2		0,3,6498	TT,TC,CC		0.0233,0.0227,0.0231		1467/1635	62855863	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	0			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.4401G>A	17.37:g.62855863C>T			Q49A01|Q49A80|Q8NB33	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S1467	ENST00000584306.1	37	c.4401	CCDS32708.1	17																																																																																			0	NULL		0.488	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	protein_coding	OTTHUMT00000445377.1	77	11	0	0.00	0	0	C	NM_199340	rs369882842	C->T		62855863	-1	no_errors	ENST00000319651	ensembl	human	known	74_37	silent	46	22	53.54	48.84	53	21	SNP	0	T	T	62855863	C	T	62855863	2	4	65	1	0	0	0	0	0	0	0	1	8993	523	19	1		1	LRRC37A3	17	62855863	Silent	SNP	C	TCGA-XM-AAZ3-01A-11D-A423-09	59204522	62855863	18339347	23	734											
LIN37	126393	genome.wustl.edu	37	chr19	36244105	36244105	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccctctgtgcgcgagcGtgaatgctctcccagctcac	6	8	10	17	3	3	1	1	1	2	0	4	2	3	1	3	0	5	2	3	0	1	0	rs199605769		TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr19:36244105G>A	ENST00000592984.1	-	0	1634				AC002398.9_ENST00000591613.2_3'UTR|LIN37_ENST00000301159.9_Missense_Mutation_p.R132H|AC002398.11_ENST00000591091.1_RNA|AC002398.12_ENST00000587767.1_RNA			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGCGCGAGCGTGAATGCTCT	0.667																																							0											0													22	27	26					19																	36244105		2080	4204	6284	SO:0001628	intergenic_variant	0			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"Heat shock proteins / HSPB"	26511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 91"	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36244105G>A			O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	NULL	p.R132H	ENST00000592984.1	37	c.395	CCDS12475.1	19	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908762	0.33721	.	.	ENSG00000188223	ENST00000301159	T	0.47528	0.84	4.92	-1.46	0.08800	.	0.522411	0.19551	N	0.111573	T	0.35537	0.0935	L	0.57536	1.79	0.25057	N	0.991099	B	0.06786	0.001	B	0.01281	0.0	T	0.22695	-1.0209	10	0.44086	T	0.13	-16.0794	4.641	0.12548	0.3746:0.3242:0.3012:0.0	.	132	Q96GY3	LIN37_HUMAN	H	132	ENSP00000301159:R132H	ENSP00000301159:R132H	R	+	2	0	LIN37	40935945	0.060000	0.20803	0.109000	0.21407	0.867000	0.49689	0.467000	0.22035	0.014000	0.14944	0.561000	0.74099	CGT	0	NULL		0.667	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN37	protein_coding	OTTHUMT00000109498.3	17	17	0	0.00	0	0	G	NM_144617	rs199605769	G->A		36244105	1	no_errors	ENST00000301159	ensembl	human	known	74_37	missense	18	33	61.7	34.00	29	17	SNP	0.003	A	A	36244105	G	A	36244105	1	1	65	0	1	0	0	0	0	0	0	0	8807	1145	40	1		1	LIN37	19	36244105	IGR	SNP	G	TCGA-XM-AAZ3-01A-11D-A423-09		36244105	22884878	24	735											
MXRA5	25878	genome.wustl.edu	37	chrX	3235496	3235496	+	Frame_Shift_Del	DEL	G	G	-																															cacccagcgcacgctgggcaGgggcgcagccttggcagtgc																										TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chrX:3235496delG	ENST00000217939.6	-	6	6380	c.6226delC	c.(6226-6228)ctgfs	p.L2076fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2076	Ig-like C2-type 5.					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)				ACGCTGGGCAGGGGCGCAGCC	0.642																																							0											0													26	22	24					X																	3235496		2182	4276	6458	SO:0001589	frameshift_variant	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6226delC	X.37:g.3235496delG	ENSP00000217939:p.Leu2076fs		Q6P1M7|Q9Y3Y8	Frame_Shift_Del	DEL	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.L2076fs	ENST00000217939.6	37	c.6226	CCDS14124.1	X																																																																																			0	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.642	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	22	1	0	0.00	0	0	G	NM_015419	0	0		3235496	-1	no_errors	ENST00000217939	ensembl	human	known	74_37	frame_shift_del	23	5	8	0.00	2	0	DEL	0.009	0	-	3235496	G	-	3235496	7	5	65	1	0	1	0	1	0	0	0	0	10003	991	35	0	2268	0	MXRA5	23	3235496	Frame_Shift_Del	DEL	G	TCGA-XM-AAZ3-01A-11D-A423-09		3235496	152035064	25	736											
NRAS	4893	genome.wustl.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	7	15	8	11	0	2	0	0	0	2	0	4	0	4	0	2	1	2	5	2	1	3	5	rs121913254		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													0		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	610	Substitution - Missense(609)|Complex(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)											180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys		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.Q61K	ENST00000369535.4	37	c.181	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA	0	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	50	186	0	0.00	0	0	G	NM_002524	rs121913254	G->A,C,T		115256530	-1	no_errors	ENST00000369535	ensembl	human	known	74_37	missense	70	262	32.69	27.27	34	99	SNP	1	T	T	115256530	G	T	115256530	3	4	66	1	0	0	0	0	1	0	0	0	10640	1386	48	5	400	5	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-XU-A92O-01A-11D-A423-09		115256530	133994091	1	737											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144852464	144852464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaggcaagggtcacaaGgctggagtacatggcagagc	12	5	16	8	0	1	1	1	0	0	1	1	3	1	3	0	6	2	4	0	6	4	1			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr1:144852464G>A	ENST00000369354.3	-	44	7224	c.7035C>T	c.(7033-7035)gcC>gcT	p.A2345A	PDE4DIP_ENST00000313382.9_Silent_p.A2239A|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Silent_p.A2430A|PDE4DIP_ENST00000369359.4_Silent_p.A2481A|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2345					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)		AGGGTCACAAGGCTGGAGTAC	0.512			T	PDGFRB	MPD																																		0		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													58	57	57					1																	144852464		2203	4294	6497	SO:0001819	synonymous_variant	0			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.7035C>T	1.37:g.144852464G>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.A2345	ENST00000369354.3	37	c.7035	CCDS30824.1	1																																																																																			0	NULL		0.512	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	protein_coding	OTTHUMT00000038858.2	284	76	0	0.00	0	0	G	NM_022359	0	0		144852464	-1	no_errors	ENST00000369354	ensembl	human	known	74_37	silent	257	114	16.77	19.15	52	27	SNP	0.833	A	A	144852464	G	A	144852464	2	1	66	1	0	0	0	0	0	0	0	1	11643	987	35	3		3	PDE4DIP	1	144852464	Silent	SNP	G	TCGA-XU-A92O-01A-11D-A423-09	29595934	144852464	104398157	2	738											
SPTA1	6708	genome.wustl.edu	37	chr1	158641928	158641928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcactgctcatactgaCgatgacgctcgtcccacagt	10	8	8	15	3	1	2	1	2	0	0	3	3	2	2	2	0	3	3	2	0	2	1	rs370498187		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr1:158641928C>T	ENST00000368147.4	-	11	1589	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	470					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)					CTCATACTGACGATGACGCTC	0.453																																							0.9998,0.0001997,.											0								T	HIS/ARG	0,3932		0,0,1966	114	110	111		1409	2.7	0	1		111	1,8321		0,1,4160	no	missense	SPTA1	NM_003126.2	29	0,1,6126	TT,TC,CC		0.012,0.0,0.0082	benign	470/2420	158641928	1,12253	1966	4161	6127	SO:0001583	missense	0			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.1409G>A	1.37:g.158641928C>T	ENSP00000357129:p.Arg470His		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.R470H	ENST00000368147.4	37	c.1409	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	4.511	0.094805	0.08681	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.0	2.66	0.31614	.	0.810877	0.10077	N	0.718994	T	0.06645	0.0170	N	0.01048	-1.04	0.21355	N	0.999714	B	0.02656	0.0	B	0.04013	0.001	T	0.42189	-0.9466	10	0.27785	T	0.31	.	10.5345	0.44996	0.0:0.2099:0.0:0.7901	.	470	P02549	SPTA1_HUMAN	H	470	ENSP00000357130:R470H;ENSP00000357129:R470H	ENSP00000357129:R470H	R	-	2	0	SPTA1	156908552	0.998000	0.40836	0.001000	0.08648	0.032000	0.12392	2.804000	0.47931	-0.160000	0.11002	-2.269000	0.00276	CGT	0	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	protein_coding	OTTHUMT00000051851.3	53	187	0	0.53	0	1	C	NM_003126	rs370498187	C->G,T		158641928	-1	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	36	179	35.71	31.68	20	83	SNP	0.779	T	T	158641928	C	T	158641928	3	4	66	1	0	0	0	0	1	0	0	0	15115	536	19	1	6018	1	SPTA1	1	158641928	Missense_Mutation	SNP	C	TCGA-XU-A92O-01A-11D-A423-09	13789464	158641928	90608693	3	739											
OR14A16	284532	genome.wustl.edu	37	chr1	247978147	247978147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaacatccccagagccacCtttatggccttgtttctcaa	10	12	5	14	0	2	1	2	0	1	1	4	1	3	1	5	1	2	1	5	1	3	4			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr1:247978147C>A	ENST00000357627.1	-	1	884	c.885G>T	c.(883-885)aaG>aaT	p.K295N		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	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)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CCAGAGCCACCTTTATGGCCT	0.368																																					Ovarian(112;180 1586 15073 21914 33526)		0											0													60	59	59					1																	247978147		2203	4300	6503	SO:0001583	missense	0			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.885G>T	1.37:g.247978147C>A	ENSP00000350248:p.Lys295Asn		Q6IF96	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K295N	ENST00000357627.1	37	c.885	CCDS31097.1	1	.	.	.	.	.	.	.	.	.	.	C	9.595	1.127237	0.20959	.	.	ENSG00000196772	ENST00000357627	T	0.40756	1.02	3.69	0.433	0.16534	.	0.000000	0.47093	U	0.000242	T	0.62998	0.2474	H	0.96175	3.78	0.09310	N	1	P	0.50617	0.937	P	0.52627	0.704	T	0.60444	-0.7262	10	0.72032	D	0.01	.	9.3751	0.38278	0.0:0.6997:0.0:0.3003	.	295	Q8NHC5	O14AG_HUMAN	N	295	ENSP00000350248:K295N	ENSP00000350248:K295N	K	-	3	2	OR14A16	246044770	0.000000	0.05858	0.040000	0.18447	0.107000	0.19398	-0.902000	0.04088	0.277000	0.22141	0.596000	0.82720	AAG	0	prints_GPCR_Rhodpsn		0.368	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14A16	protein_coding	OTTHUMT00000096856.1	77	187	0	0.00	0	0	C	NM_001001966	0	0		247978147	-1	no_errors	ENST00000357627	ensembl	human	known	74_37	missense	74	190	41.86	33.80	54	97	SNP	0.091	A	A	247978147	C	A	247978147	3	1	66	1	0	0	0	0	1	0	0	0	10945	680	24	5	48	5	OR14A16	1	247978147	Missense_Mutation	SNP	C	TCGA-XU-A92O-01A-11D-A423-09	89336219	247978147	1272474	4	740											
ALMS1	7840	genome.wustl.edu	37	chr2	73680585	73680585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaccctcttccacgggtGtatctaatggtgatttgctt	9	14	9	9	1	2	2	0	1	2	1	3	2	3	2	2	2	2	2	2	2	4	5			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr2:73680585G>A	ENST00000264448.6	+	8	7039	c.6928G>A	c.(6928-6930)Gta>Ata	p.V2310I	ALMS1_ENST00000377715.1_Missense_Mutation_p.V2310I|ALMS1_ENST00000409009.1_Missense_Mutation_p.V2268I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2310					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						TTCCACGGGTGTATCTAATGG	0.428																																							0											0													80	77	78					2																	73680585		1884	4102	5986	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6928G>A	2.37:g.73680585G>A	ENSP00000264448:p.Val2310Ile		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.V2310I	ENST00000264448.6	37	c.6928	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.355300	0.01256	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16597	3.25;3.25;2.33	5.36	-0.772	0.10998	.	0.724192	0.12459	N	0.467039	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.10450	0.005;0.005;0.005	T	0.41448	-0.9508	10	0.15066	T	0.55	.	4.7617	0.13111	0.3917:0.0:0.4711:0.1372	.	2310;2268;2310	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	2268;2310;2310	ENSP00000386627:V2268I;ENSP00000264448:V2310I;ENSP00000366944:V2310I	ENSP00000264448:V2310I	V	+	1	0	ALMS1	73534093	0.000000	0.05858	0.004000	0.12327	0.014000	0.08584	-0.006000	0.12833	-0.387000	0.07809	-0.825000	0.03093	GTA	0	NULL		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	protein_coding	OTTHUMT00000327776.1	26	173	0	0.00	0	0	G	NM_015120	0	0		73680585	1	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	39	175	32.76	37.72	19	106	SNP	0.001	A	A	73680585	G	A	73680585	3	1	66	1	0	0	0	0	1	0	0	0	535	1377	48	3	6958	3	ALMS1	2	73680585	Missense_Mutation	SNP	G	TCGA-XU-A92O-01A-11D-A423-09		73680585	169518788	5	741											
ZBBX	79740	genome.wustl.edu	37	chr3	167045798	167045798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttctccattgacttaacActtcctgaaaggactgtgca	10	12	8	11	1	1	2	0	2	1	0	3	3	2	3	2	2	2	2	2	2	2	4	rs191259737		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr3:167045798A>G	ENST00000392766.2	-	11	1134	c.794T>C	c.(793-795)gTg>gCg	p.V265A	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.V265A|ZBBX_ENST00000307529.5_Missense_Mutation_p.V265A|ZBBX_ENST00000392764.1_Missense_Mutation_p.V236A|ZBBX_ENST00000392767.2_Missense_Mutation_p.V265A	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	265						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						TTGACTTAACACTTCCTGAAA	0.363													A|||	1	0.000199681	0	0	5008	,	,		16246	0		0.001	False		,,,				2504	0						0.9998,0.0001997											0								A	ALA/VAL,ALA/VAL,ALA/VAL	0,3762		0,0,1881	220	204	209		794,707,794	-3.6	0	3		209	4,8228		0,4,4112	yes	missense,missense,missense	ZBBX	NM_001199201.1,NM_001199202.1,NM_024687.3	64,64,64	0,4,5993	GG,GA,AA		0.0486,0.0,0.0334	benign,benign,benign	265/840,236/772,265/801	167045798	4,11990	1881	4116	5997	SO:0001583	missense	0			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.794T>C	3.37:g.167045798A>G	ENSP00000376519:p.Val265Ala		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.V265A	ENST00000392766.2	37	c.794	CCDS3199.2	3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	0.040	-1.290078	0.01387	0.0	4.86E-4	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.07327	3.37;3.37;3.37;3.37;3.2	5.57	-3.57	0.04612	.	1.040650	0.07770	N	0.951484	T	0.04407	0.0121	N	0.11789	0.175	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.48080	-0.9066	10	0.08381	T	0.77	-0.0035	12.9458	0.58371	0.3222:0.0:0.6778:0.0	.	265;265	A8MT70-2;A8MT70	.;ZBBX_HUMAN	A	265;265;265;265;236	ENSP00000376519:V265A;ENSP00000376520:V265A;ENSP00000390232:V265A;ENSP00000305065:V265A;ENSP00000376517:V236A	ENSP00000305065:V265A	V	-	2	0	ZBBX	168528492	0.028000	0.19301	0.000000	0.03702	0.005000	0.04900	-0.377000	0.07456	-0.980000	0.03524	-0.385000	0.06624	GTG	0	NULL		0.363	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	protein_coding	OTTHUMT00000257657.3	39	146	0	0.00	0	0	A	NM_024687	rs191259737	A->G		167045798	-1	no_errors	ENST00000307529	ensembl	human	known	74_37	missense	69	195	21.59	30.80	19	89	SNP	0.002	G	G	167045798	A	G	167045798	3	3	66	1	0	0	0	0	1	0	0	0	17513	159	6	3	1652	3	ZBBX	3	167045798	Missense_Mutation	SNP	A	TCGA-XU-A92O-01A-11D-A423-09		167045798	30976632	6	742											
BMPR1B	658	genome.wustl.edu	37	chr4	96035936	96035936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgcctgtggtcacttctgGttgcctaggactagaaggct	6	13	13	9	0	2	1	1	0	1	1	2	2	2	2	2	4	2	3	2	4	3	5			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr4:96035936G>T	ENST00000515059.1	+	5	492	c.209G>T	c.(208-210)gGt>gTt	p.G70V	BMPR1B_ENST00000440890.2_Missense_Mutation_p.G100V|BMPR1B_ENST00000502683.1_Missense_Mutation_p.G70V|BMPR1B_ENST00000264568.4_Missense_Mutation_p.G70V|BMPR1B_ENST00000394931.1_Missense_Mutation_p.G70V	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	70					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|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 receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GTCACTTCTGGTTGCCTAGGA	0.423																																							0											0													306	289	295					4																	96035936		2203	4300	6503	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.209G>T	4.37:g.96035936G>T	ENSP00000426617:p.Gly70Val		B2R953|B4DSV1|P78366	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,prints_TGFB_receptor	p.G100V	ENST00000515059.1	37	c.299	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963948	0.53507	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	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	5.82	5.82	0.92795	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	.	20.5436	0.99274	0.0:0.0:1.0:0.0	.	70	O00238	BMR1B_HUMAN	V	70;70;70;70;100;70;70;70	ENSP00000426617:G70V;ENSP00000421144:G70V;ENSP00000425444:G70V;ENSP00000421671:G70V;ENSP00000401907:G100V;ENSP00000424693:G70V;ENSP00000264568:G70V;ENSP00000378389:G70V	ENSP00000264568:G70V	G	+	2	0	BMPR1B	96254959	1.000000	0.71417	0.790000	0.31976	0.016000	0.09150	8.084000	0.89516	2.932000	0.99384	0.644000	0.83932	GGT	0	pfam_Activin_rcpt		0.423	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	protein_coding	OTTHUMT00000253609.3	85	181	0	0.00	0	0	G	NM_001203	0	0		96035936	1	no_errors	ENST00000440890	ensembl	human	known	74_37	missense	59	251	41.58	24.32	42	81	SNP	0.996	T	T	96035936	G	T	96035936	3	4	66	1	0	0	0	0	1	0	0	0	1470	1261	44	5	215	5	BMPR1B	4	96035936	Missense_Mutation	SNP	G	TCGA-XU-A92O-01A-11D-A423-09		96035936	95118340	7	743											
CTNND2	1501	genome.wustl.edu	37	chr5	11111062	11111062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgccacagagtagcccgtCcagctcgtccgtgcccatgt	6	8	10	17	4	0	1	0	0	0	1	4	1	2	1	5	0	3	2	5	0	1	1			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr5:11111062C>A	ENST00000304623.8	-	14	2560	c.2371G>T	c.(2371-2373)Gac>Tac	p.D791Y	CTNND2_ENST00000458100.2_Missense_Mutation_p.D358Y|CTNND2_ENST00000503622.1_Missense_Mutation_p.D454Y|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.D791Y|CTNND2_ENST00000511377.1_Missense_Mutation_p.D700Y	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	791					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						AGTAGCCCGTCCAGCTCGTCC	0.547																																							0											0													135	141	139					5																	11111062		2203	4300	6503	SO:0001583	missense	0			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.2371G>T	5.37:g.11111062C>A	ENSP00000307134:p.Asp791Tyr		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D791Y	ENST00000304623.8	37	c.2371	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830290	0.91036	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	D	0.92002	0.5611	10	0.87932	D	0	-31.6168	19.8968	0.96969	0.0:1.0:0.0:0.0	.	454;358;791	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	Y	791;791;700;358;454	ENSP00000307134:D791Y;ENSP00000352661:D791Y;ENSP00000426510:D700Y;ENSP00000391155:D358Y;ENSP00000426887:D454Y	ENSP00000307134:D791Y	D	-	1	0	CTNND2	11164062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.691000	0.91804	0.655000	0.94253	GAC	0	superfamily_ARM-type_fold		0.547	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	protein_coding	OTTHUMT00000206999.1	32	100	0	0.00	0	0	C	NM_001332	0	0		11111062	-1	no_errors	ENST00000304623	ensembl	human	known	74_37	missense	25	93	32.43	32.61	12	45	SNP	1	A	A	11111062	C	A	11111062	3	1	66	1	0	0	0	0	1	0	0	0	4020	855	30	5	1342	5	CTNND2	5	11111062	Missense_Mutation	SNP	C	TCGA-XU-A92O-01A-11D-A423-09		11111062	169804198	8	744											
TRIO	7204	genome.wustl.edu	37	chr5	14389437	14389437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtggcgtggaagagattCcacctggcattgtaaacaaa	13	8	11	9	1	0	1	0	0	0	1	1	3	1	2	3	3	1	2	3	3	4	3			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr5:14389437C>A	ENST00000344204.4	+	25	4012	c.3988C>A	c.(3988-3990)Cca>Aca	p.P1330T	TRIO_ENST00000509967.2_Missense_Mutation_p.P1281T|TRIO_ENST00000537187.1_Missense_Mutation_p.P1330T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1330	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)					GGAAGAGATTCCACCTGGCAT	0.413																																							0											0													102	101	101					5																	14389437		2203	4300	6503	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3988C>A	5.37:g.14389437C>A	ENSP00000339299:p.Pro1330Thr		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.P1330T	ENST00000344204.4	37	c.3988	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203071	0.79127	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.30981	1.51;1.51;1.51	6.03	6.03	0.97812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	0.977;0.998;1.0	P;D;D	0.85130	0.82;0.956;0.997	T	0.65434	-0.6169	10	0.62326	D	0.03	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1281;1330;1330	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	T	1330;1330;1281;1017	ENSP00000339299:P1330T;ENSP00000446348:P1330T;ENSP00000445592:P1281T	ENSP00000339299:P1330T	P	+	1	0	TRIO	14442437	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	CCA	0	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.413	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	51	274	0	0.00	0	0	C	NM_007118	0	0		14389437	1	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	46	252	30.3	30.77	20	112	SNP	1	A	A	14389437	C	A	14389437	3	1	66	1	0	0	0	0	1	0	0	0	16549	855	30	5	4086	5	TRIO	5	14389437	Missense_Mutation	SNP	C	TCGA-XU-A92O-01A-11D-A423-09	3278375	14389437	166525823	9	745											
BRD2	6046	genome.wustl.edu	37	chr6	32943248	32943248	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attattgggctgcttcagagTgtatgcaagattttaatacc	11	15	9	6	0	1	2	1	0	0	2	1	2	1	2	1	1	3	4	1	1	5	7			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr6:32943248T>A	ENST00000374825.4	+	4	2122	c.421T>A	c.(421-423)Tgt>Agt	p.C141S	BRD2_ENST00000395289.2_Missense_Mutation_p.C141S|XXbac-BPG181M17.6_ENST00000580587.1_RNA|BRD2_ENST00000443797.2_Missense_Mutation_p.C21S|BRD2_ENST00000374831.4_Missense_Mutation_p.C141S|BRD2_ENST00000395287.1_Missense_Mutation_p.C141S|BRD2_ENST00000449085.2_Missense_Mutation_p.C94S	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	141	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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						TGCTTCAGAGTGTATGCAAGA	0.333																																							0											0													92	88	90					6																	32943248		1510	2709	4219	SO:0001583	missense	0			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.421T>A	6.37:g.32943248T>A	ENSP00000363958:p.Cys141Ser		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.C141S	ENST00000374825.4	37	c.421	CCDS4762.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.0|25.0	4.587277|4.587277	0.86851|0.86851	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085|ENST00000456339;ENST00000449025	T;T;T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59;1.59;1.59|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Bromodomain (6);Bromodomain, conserved site (1);|.	0.000000|.	0.56097|.	D|.	0.000039|.	T|T	0.71358|0.71358	0.3330|0.3330	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.992;0.992|.	D;D|.	0.70227|.	0.968;0.931|.	T|T	0.74674|0.74674	-0.3586|-0.3586	10|5	0.72032|.	D|.	0.01|.	-12.9131|-12.9131	13.8401|13.8401	0.63432|0.63432	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	141;141|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	S|R	141;141;141;21;141;94|142;146	ENSP00000363958:C141S;ENSP00000363964:C141S;ENSP00000378704:C141S;ENSP00000413495:C21S;ENSP00000378702:C141S;ENSP00000409145:C94S|.	ENSP00000363958:C141S|.	C|S	+|+	1|3	0|2	BRD2|BRD2	33051226|33051226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.077000|6.077000	0.71275|0.71275	2.363000|2.363000	0.80096|0.80096	0.523000|0.523000	0.50628|0.50628	TGT|AGT	0	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.333	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	protein_coding	OTTHUMT00000076503.2	85	214	0	0.00	0	0	T		0	0		32943248	1	no_errors	ENST00000395289	ensembl	human	known	74_37	missense	103	268	27.97	33.83	40	137	SNP	1	A	A	32943248	T	A	32943248	3	1	66	1	0	0	0	0	1	0	0	0	1502	1696	59	5	431	5	BRD2	6	32943248	Missense_Mutation	SNP	T	TCGA-XU-A92O-01A-11D-A423-09		32943248	138171819	10	746											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	261	115	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	342	126	33.33	35.05	171	68	SNP	1	A	A	74146970	T	A	74146970	3	1	66	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-XU-A92O-01A-11D-A423-09		74146970	84991693	11	747											
FRA10AC1	118924	genome.wustl.edu	37	chr10	95429586	95429586	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttctctctctcgtctcaTagaaacaaatcctgaaaata	13	12	5	11	1	3	2	1	1	3	1	8	2	4	2	1	1	1	1	1	1	6	3			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr10:95429586T>C	ENST00000359204.4	-	14	1142	c.945A>G	c.(943-945)ctA>ctG	p.L315L	FRA10AC1_ENST00000460752.1_5'UTR|FRA10AC1_ENST00000536233.1_3'UTR	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	315						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TCTCGTCTCATAGAAACAAAT	0.294																																							0											0													71	74	73					10																	95429586		2201	4299	6500	SO:0001819	synonymous_variant	0			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.945A>G	10.37:g.95429586T>C			C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Silent	SNP	pfam_Folate-sensitive_fs_Fra10Ac1	p.L315	ENST00000359204.4	37	c.945	CCDS7430.1	10																																																																																			0	NULL		0.294	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	protein_coding	OTTHUMT00000049439.1	93	126	0	0.00	0	0	T	NM_145246	0	0		95429586	-1	no_errors	ENST00000359204	ensembl	human	known	74_37	silent	106	160	26.21	31.62	38	74	SNP	0.973	C	C	95429586	T	C	95429586	2	2	66	1	0	0	0	0	0	0	0	1	6041	1393	49	3		3	FRA10AC1	10	95429586	Silent	SNP	T	TCGA-XU-A92O-01A-11D-A423-09		95429586	40105161	12	748											
PTDSS2	81490	genome.wustl.edu	37	chr11	489643	489643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgctgtggatgccccCggagcactacctggtcctcc	4	11	12	14	1	0	0	0	0	0	0	2	2	2	2	5	3	4	3	5	3	1	2	rs191633129		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr11:489643C>T	ENST00000308020.5	+	10	1201	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	342					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		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;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	TGGATGCCCCCGGAGCACTAC	0.617													C|||	1	0.000199681	0	0	5008	,	,		14229	0		0.001	False		,,,				2504	0						0.9998,0.0001997											0													57	49	51					11																	489643		2198	4298	6496	SO:0001583	missense	0			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1025C>T	11.37:g.489643C>T	ENSP00000308258:p.Pro342Leu			Missense_Mutation	SNP	pfam_PSS	p.P342L	ENST00000308020.5	37	c.1025	CCDS7696.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.0	4.368445	0.82463	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.2	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.79644	0.4481	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.84454	0.0590	9	0.66056	D	0.02	-16.275	15.6881	0.77426	0.0:1.0:0.0:0.0	.	342	Q9BVG9	PTSS2_HUMAN	L	342	.	ENSP00000308258:P342L	P	+	2	0	PTDSS2	479643	1.000000	0.71417	0.873000	0.34254	0.842000	0.47809	7.363000	0.79516	2.114000	0.64651	0.561000	0.74099	CCG	0	pfam_PSS		0.617	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS2	protein_coding	OTTHUMT00000239301.2	46	135	0	0.00	0	0	C		rs191633129	C->T		489643	1	no_errors	ENST00000308020	ensembl	human	known	74_37	missense	25	137	39.02	29.08	16	57	SNP	1	T	T	489643	C	T	489643	3	4	66	1	0	0	0	0	1	0	0	0	12737	652	23	2	1063	2	PTDSS2	11	489643	Missense_Mutation	SNP	C	TCGA-XU-A92O-01A-11D-A423-09		489643	134516873	13	749											
SLC39A13	91252	genome.wustl.edu	37	chr11	47435002	47435002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgctcaatggaggccacTgtctggcccagccggctgca	6	6	13	16	3	2	0	1	0	1	0	2	1	2	1	4	4	2	3	4	4	1	0			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr11:47435002T>C	ENST00000362021.4	+	5	631	c.589T>C	c.(589-591)Tgt>Cgt	p.C197R	SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000354884.4_Missense_Mutation_p.C197R|SLC39A13_ENST00000524928.1_Missense_Mutation_p.C197R|SLC39A13_ENST00000533076.1_Missense_Mutation_p.C197R	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	197					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)		TGGAGGCCACTGTCTGGCCCA	0.667																																							0											0													27	30	29					11																	47435002		2200	4297	6497	SO:0001583	missense	0				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.589T>C	11.37:g.47435002T>C	ENSP00000354689:p.Cys197Arg		D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	pfam_ZIP	p.C197R	ENST00000362021.4	37	c.589	CCDS44592.1	11	.	.	.	.	.	.	.	.	.	.	T	9.113	1.007167	0.19199	.	.	ENSG00000165915	ENST00000533076;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000524928	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.28	4.13	0.48395	.	11.194700	0.00166	N	0.000000	T	0.41834	0.1176	L	0.49350	1.555	0.39247	D	0.963967	B;B;B	0.17667	0.0;0.0;0.023	B;B;B	0.17979	0.002;0.002;0.02	T	0.11616	-1.0580	10	0.24483	T	0.36	-9.6102	8.1535	0.31154	0.0:0.0929:0.0:0.9071	.	197;197;197	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	R	197	ENSP00000434290:C197R;ENSP00000354689:C197R;ENSP00000346956:C197R;ENSP00000432499:C197R;ENSP00000437186:C197R	ENSP00000346956:C197R	C	+	1	0	SLC39A13	47391578	0.002000	0.14202	0.487000	0.27428	0.944000	0.59088	0.365000	0.20348	0.823000	0.34589	0.374000	0.22700	TGT	0	pfam_ZIP		0.667	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	SLC39A13	protein_coding	OTTHUMT00000395652.1	82	39	0	0.00	0	0	T	NM_152264	0	0		47435002	1	no_errors	ENST00000362021	ensembl	human	known	74_37	missense	40	43	34.43	17.31	21	9	SNP	0.329	C	C	47435002	T	C	47435002	3	2	66	1	0	0	0	0	1	0	0	0	14616	1580	55	4	603	4	SLC39A13	11	47435002	Missense_Mutation	SNP	T	TCGA-XU-A92O-01A-11D-A423-09	46945359	47435002	87571514	14	750											
FNBP4	23360	genome.wustl.edu	37	chr11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-																															ttttgggagctggtggtggtGgaggaggaggaggaggaggt																										TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cctcca>cca	p.914_915PP>P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		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						tggtggtggtggaggaggaggag	0.458																																							0											1	Substitution - coding silent(1)	endometrium(1)								3,75,3660		0,0,3,5,65,1796						-0.3	0.9			14	11,190,7695		0,0,11,2,186,3749	no	codingComplex	FNBP4	NM_015308.2		0,0,14,7,251,5545	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5456,2.0867,2.3981				14,265,11355				SO:0001651	inframe_deletion	0			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.2742_2744delTCC	11.37:g.47744598_47744600delGGA	ENSP00000263773:p.Pro918del		Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P918in_frame_del	ENST00000263773.5	37	c.2744_2742	CCDS41644.1	11																																																																																			0	NULL		0.458	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	protein_coding	OTTHUMT00000390237.3	50	4	0	0.00	0	0	GGA		0	0		47744591	-1	no_errors	ENST00000263773	ensembl	human	known	74_37	in_frame_del	35	4	12.5	0.00	5	0	DEL	0.925:0.888:0.174	0	-	47744591	GGA	-	47744589	7	5	66	1	0	1	0	1	0	0	0	0	5967	1348	47	0	321	0	FNBP4	11	47744589	In_Frame_Del	DEL	GGA	TCGA-XU-A92O-01A-11D-A423-09	309587	47744589	87261927	15	751											
KIRREL3	84623	genome.wustl.edu	37	chr11	126316678	126316678	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagccccgcttcatccaGacgatggtcagggatgggtt	7	8	14	12	3	2	1	2	0	0	1	3	4	3	3	4	4	1	2	4	4	0	2			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr11:126316678G>T	ENST00000525144.2	-	9	1350	c.1101C>A	c.(1099-1101)gtC>gtA	p.V367V	KIRREL3_ENST00000525704.2_Silent_p.V367V|KIRREL3_ENST00000529097.2_Silent_p.V367V	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	367	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCTTCATCCAGACGATGGTCA	0.647																																							0											0													28	31	30					11																	126316678		2026	4177	6203	SO:0001819	synonymous_variant	0			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1101C>A	11.37:g.126316678G>T			Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V367	ENST00000525144.2	37	c.1101	CCDS53723.1	11																																																																																			0	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.647	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	protein_coding	OTTHUMT00000386479.2	32	35	0	0.00	0	0	G	NM_032531	0	0		126316678	-1	no_errors	ENST00000525144	ensembl	human	known	74_37	silent	21	32	34.38	25.58	11	11	SNP	0.996	T	T	126316678	G	T	126316678	2	4	66	1	0	0	0	0	0	0	0	1	8326	929	33	5		5	KIRREL3	11	126316678	Silent	SNP	G	TCGA-XU-A92O-01A-11D-A423-09	78572089	126316678	8689838	16	752											
TBK1	29110	genome.wustl.edu	37	chr12	64858242	64858242	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaattgttttgcgagatgtGggtatgtttgtttatttata	8	22	10	1	1	0	1	0	0	0	1	0	2	0	1	0	1	1	4	0	1	5	11			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr12:64858242G>A	ENST00000331710.5	+	4	696	c.357G>A	c.(355-357)gtG>gtA	p.V119V		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|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 peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|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)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGCGAGATGTGGGTATGTTTG	0.284																																							0											0													106	105	105					12																	64858242		2203	4300	6503	SO:0001630	splice_region_variant	0			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.358+1G>A	12.37:g.64858242G>A			A8K4S4|Q8IYV3|Q9NUJ5	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.V119	ENST00000331710.5	37	c.357	CCDS8968.1	12																																																																																			0	pfam_Prot_kinase_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	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	protein_coding	OTTHUMT00000401130.1	57	215	0	0.00	0	0	G	NM_013254	0	0	Silent	64858242	1	no_errors	ENST00000331710	ensembl	human	known	74_37	silent	64	273	30.85	26.02	29	96	SNP	1	A	A	64858242	G	A	64858242	5	1	66	1	0	0	0	0	0	0	1	0	15634	1362	47	3	367	3	TBK1	12	64858242	Splice_Site	SNP	G	TCGA-XU-A92O-01A-11D-A423-09		64858242	68993653	17	753											
CLIP1	6249	genome.wustl.edu	37	chr12	122861982	122861982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctttctcctttcttgattGagccagcctctgaaaggttg	6	16	8	11	0	4	3	0	3	4	0	5	3	4	3	3	1	2	1	3	1	1	5			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr12:122861982G>A	ENST00000540338.1	-	2	652	c.611C>T	c.(610-612)tCa>tTa	p.S204L	CLIP1_ENST00000361654.4_Missense_Mutation_p.S204L|CLIP1_ENST00000537178.1_Missense_Mutation_p.S204L|CLIP1_ENST00000302528.7_Missense_Mutation_p.S204L|CLIP1_ENST00000358808.2_Missense_Mutation_p.S204L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	204	Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTCTTGATTGAGCCAGCCTC	0.448																																							0											0													151	144	147					12																	122861982		2203	4300	6503	SO:0001583	missense	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.611C>T	12.37:g.122861982G>A	ENSP00000439093:p.Ser204Leu		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.S204L	ENST00000540338.1	37	c.611	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.499445	0.96355	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (2);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	M	0.74881	2.28	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;1.0;0.93	D;D;D;P	0.97110	0.999;1.0;1.0;0.863	D	0.86701	0.1929	10	0.59425	D	0.04	-7.3722	20.0912	0.97820	0.0:0.0:1.0:0.0	.	204;204;204;204	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	L	204;204;49;204;204;204;204	ENSP00000303585:S204L;ENSP00000351665:S204L;ENSP00000445531:S204L;ENSP00000439093:S204L;ENSP00000437786:S204L;ENSP00000441409:S204L	ENSP00000303585:S204L	S	-	2	0	CLIP1	121427935	1.000000	0.71417	0.963000	0.40424	0.995000	0.86356	9.612000	0.98347	2.746000	0.94184	0.591000	0.81541	TCA	0	superfamily_CAP-Gly_domain		0.448	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	protein_coding	OTTHUMT00000401625.1	92	207	0	0.48	0	1	G	NM_002956	0	0		122861982	-1	no_errors	ENST00000540338	ensembl	human	known	74_37	missense	61	211	27.38	28.86	23	86	SNP	1	A	A	122861982	G	A	122861982	3	1	66	1	0	0	0	0	1	0	0	0	3532	1294	45	3	3764	3	CLIP1	12	122861982	Missense_Mutation	SNP	G	TCGA-XU-A92O-01A-11D-A423-09	58003740	122861982	10989913	18	754											
PPP4R4	57718	genome.wustl.edu	37	chr14	94707027	94707027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatgacagaagtcaaactAtacttcccttagtgaaatca	16	10	6	9	0	2	4	2	2	0	2	3	4	3	4	1	0	2	0	1	0	6	4			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr14:94707027A>G	ENST00000304338.3	+	9	1025	c.871A>G	c.(871-873)Ata>Gta	p.I291V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	291					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAGTCAAACTATACTTCCCTT	0.308																																							0											0													54	56	55					14																	94707027		2201	4291	6492	SO:0001583	missense	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.871A>G	14.37:g.94707027A>G	ENSP00000305924:p.Ile291Val		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.I291V	ENST00000304338.3	37	c.871	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	A	9.637	1.137848	0.21123	.	.	ENSG00000119698	ENST00000304338	T	0.34072	1.38	5.26	1.69	0.24217	Armadillo-like helical (1);Armadillo-type fold (1);	0.280006	0.40469	N	0.001099	T	0.16128	0.0388	N	0.17082	0.46	0.80722	D	1	B	0.13594	0.008	B	0.12837	0.008	T	0.14035	-1.0487	10	0.06236	T	0.91	-13.6019	6.7315	0.23385	0.5556:0.0:0.4444:0.0	.	291	Q6NUP7	PP4R4_HUMAN	V	291	ENSP00000305924:I291V	ENSP00000305924:I291V	I	+	1	0	PPP4R4	93776780	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.542000	0.36137	0.405000	0.25532	0.482000	0.46254	ATA	0	superfamily_ARM-type_fold		0.308	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	protein_coding	OTTHUMT00000413056.1	39	136	0	0.00	0	0	A	NM_058237	0	0		94707027	1	no_errors	ENST00000304338	ensembl	human	known	74_37	missense	48	187	29.41	32.62	20	91	SNP	1	G	G	94707027	A	G	94707027	3	3	66	1	0	0	0	0	1	0	0	0	12405	449	16	3	978	3	PPP4R4	14	94707027	Missense_Mutation	SNP	A	TCGA-XU-A92O-01A-11D-A423-09		94707027	12642513	19	755											
SDK2	54549	genome.wustl.edu	37	chr17	71394219	71394219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggctgtgcgcagagaCacattggctggggccatgtc	7	9	14	11	1	1	1	1	0	0	1	2	2	1	1	1	4	1	3	1	4	0	1	rs561159742	byFrequency	TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr17:71394219C>T	ENST00000392650.3	-	24	3309	c.3309G>A	c.(3307-3309)gtG>gtA	p.V1103V	SDK2_ENST00000388726.3_Silent_p.V1103V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1103	Fibronectin type-III 6. {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						TGCGCAGAGACACATTGGCTG	0.632																																							0											0													30	33	32					17																	71394219		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3309G>A	17.37:g.71394219C>T			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.V1103	ENST00000392650.3	37	c.3309	CCDS45769.1	17																																																																																			0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	89	45	1.11	0.00	1	0	C	NM_019064	0	0		71394219	-1	no_errors	ENST00000392650	ensembl	human	known	74_37	silent	81	47	25.69	28.79	28	19	SNP	1	T	T	71394219	C	T	71394219	2	4	66	1	0	0	0	0	0	0	0	1	13969	465	17	3		3	SDK2	17	71394219	Silent	SNP	C	TCGA-XU-A92O-01A-11D-A423-09		71394219	9800991	20	756											
ZNF519	162655	genome.wustl.edu	37	chr18	14106162	14106162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacagaaactgaggcttcTtctgaaatattctatattct	12	15	6	8	0	4	4	0	3	4	1	4	4	4	4	0	1	1	1	0	1	5	7			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr18:14106162T>C	ENST00000590202.1	-	3	529	c.377A>G	c.(376-378)aAg>aGg	p.K126R	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	126					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						CTGAGGCTTCTTCTGAAATAT	0.303																																							0											0													63	64	64					18																	14106162		2203	4298	6501	SO:0001583	missense	0			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.377A>G	18.37:g.14106162T>C	ENSP00000464872:p.Lys126Arg			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.K126R	ENST00000590202.1	37	c.377	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	T	1.372	-0.585907	0.03827	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.782	-1.56	0.08532	.	.	.	.	.	T	0.12050	0.0293	N	0.11789	0.175	0.09310	N	1	B	0.33345	0.409	B	0.30646	0.118	T	0.28235	-1.0050	8	0.14656	T	0.56	.	4.1708	0.10329	0.0:0.5219:0.0:0.4781	.	126	Q8TB69	ZN519_HUMAN	R	126	.	ENSP00000307908:K126R	K	-	2	0	ZNF519	14096162	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	1.170000	0.31883	-0.717000	0.04955	-0.595000	0.04109	AAG	0	NULL		0.303	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	protein_coding	OTTHUMT00000459037.1	33	172	0	0.58	0	1	T	NM_145287	0	0		14106162	-1	no_errors	ENST00000590202	ensembl	human	known	74_37	missense	63	232	32.98	31.96	31	109	SNP	0	C	C	14106162	T	C	14106162	3	2	66	1	0	0	0	0	1	0	0	0	17961	1609	56	4	1249	4	ZNF519	18	14106162	Missense_Mutation	SNP	T	TCGA-XU-A92O-01A-11D-A423-09		14106162	63971086	21	757											
MYO9B	4650	genome.wustl.edu	37	chr19	17295734	17295734	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactctgcacgaccgcaccAccaagtccctactgcacctg	9	7	7	18	2	1	1	0	1	1	0	2	2	2	1	5	0	3	3	5	0	2	1			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr19:17295734A>G	ENST00000594824.1	+	17	2581	c.2434A>G	c.(2434-2436)Acc>Gcc	p.T812A	MYO9B_ENST00000397274.2_Missense_Mutation_p.T812A|MYO9B_ENST00000595618.1_Missense_Mutation_p.T812A			Q13459	MYO9B_HUMAN	myosin IXB	812	Myosin motor.				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						CGACCGCACCACCAAGTCCCT	0.582																																							0											0													133	145	141					19																	17295734		2142	4260	6402	SO:0001583	missense	0				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.2434A>G	19.37:g.17295734A>G	ENSP00000471367:p.Thr812Ala		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.T812A	ENST00000594824.1	37	c.2434		19	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327041	0.81690	.	.	ENSG00000099331	ENST00000397274	D	0.86627	-2.15	5.12	5.12	0.69794	Myosin head, motor domain (2);	0.000000	0.56097	D	0.000023	D	0.91372	0.7278	L	0.55834	1.745	0.52501	D	0.999954	D;D;D	0.89917	0.983;0.983;1.0	D;D;D	0.91635	0.962;0.962;0.999	D	0.91711	0.5381	10	0.54805	T	0.06	.	14.1332	0.65268	1.0:0.0:0.0:0.0	.	812;812;818	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	A	812	ENSP00000380444:T812A	ENSP00000380444:T812A	T	+	1	0	MYO9B	17156734	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	9.156000	0.94705	1.941000	0.56285	0.459000	0.35465	ACC	0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.582	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	protein_coding	OTTHUMT00000463236.1	39	127	0	0.00	0	0	A		0	0		17295734	1	no_errors	ENST00000594824	ensembl	human	known	74_37	missense	25	117	19.35	33.15	6	59	SNP	1	G	G	17295734	A	G	17295734	3	3	66	1	0	0	0	0	1	0	0	0	10085	159	6	3	2496	3	MYO9B	19	17295734	Missense_Mutation	SNP	A	TCGA-XU-A92O-01A-11D-A423-09		17295734	41833249	22	758											
ATRN	8455	genome.wustl.edu	37	chr20	3451967	3451969	+	In_Frame_Del	DEL	GCT	GCT	-																															ctgttgttgctctcgccgccGctgctgctgctgctgctgcc																										TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr20:3451967_3451969delGCT	ENST00000262919.5	+	1	281_283	c.213_215delGCT	c.(211-216)ccgctg>ccg	p.L77del	ATRN_ENST00000446916.2_In_Frame_Del_p.L77del	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	77	Leu-rich.				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						tctcgccgccgctgctgctgctg	0.764																																							0											0									,,	17,913		5,7,453					,,	-0.9	0			1	76,1972		27,22,975	no	coding,coding,intron	ATRN	NM_139322.2,NM_139321.2,NM_001207047.1	,,	32,29,1428	A1A1,A1R,RR		3.7109,1.828,3.1229	,,	,,		93,2885				SO:0001651	inframe_deletion	0			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.213_215delGCT	20.37:g.3451976_3451978delGCT	ENSP00000262919:p.Leu77del		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	In_Frame_Del	DEL	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.L75in_frame_del	ENST00000262919.5	37	c.213_215	CCDS13053.1	20																																																																																			0	NULL		0.764	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	protein_coding	OTTHUMT00000077740.2	10	3	0	0.00	0	0	GCT	NM_139321	0	0		3451969	1	no_errors	ENST00000262919	ensembl	human	known	74_37	in_frame_del	4	6	33.33	0.00	2	0	DEL	0.487:0.505:0.496	0	-	3451969	GCT	-	3451967	7	5	66	1	0	1	0	1	0	0	0	0	1206	1074	38	0	215	0	ATRN	20	3451967	In_Frame_Del	DEL	GCT	TCGA-XU-A92O-01A-11D-A423-09		3451967	59573553	23	759											
TPTE	7179	genome.wustl.edu	37	chr21	10910352	10910352	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatacagaggtagaccGtcgaatacatcaattaatat	16	11	6	8	2	3	2	3	0	0	2	4	3	3	2	1	1	2	1	1	1	7	5	rs141834444		TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chr21:10910352G>A	ENST00000361285.4	-	22	1733	c.1404C>T	c.(1402-1404)gaC>gaT	p.D468D	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.D430D|TPTE_ENST00000298232.7_Silent_p.D450D	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	468	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)		GAGGTAGACCGTCGAATACAT	0.338																																							0											0								G	,,	1,4405		0,1,2202	247	227	234		1350,1290,1404	-2.5	0	21	dbSNP_134	234	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	450/534,430/514,468/552	10910352	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1404C>T	21.37:g.10910352G>A			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.D468	ENST00000361285.4	37	c.1404	CCDS13560.2	21																																																																																			0	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	protein_coding	OTTHUMT00000157413.1	99	116	0	0.00	0	0	G		rs141834444	G->A		10910352	-1	no_errors	ENST00000361285	ensembl	human	known	74_37	silent	143	219	15.79	10.57	27	26	SNP	0	A	A	10910352	G	A	10910352	2	1	66	1	0	0	0	0	0	0	0	1	16427	1136	40	1		1	TPTE	21	10910352	Silent	SNP	G	TCGA-XU-A92O-01A-11D-A423-09		10910352	37219543	24	760											
IGSF1	3547	genome.wustl.edu	37	chrX	130409533	130409533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtagcagcagctgtaacGccccatgctagtaccagata	11	8	11	11	1	0	1	0	0	0	1	0	1	0	1	3	1	6	7	3	1	5	5			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chrX:130409533G>A	ENST00000361420.3	-	16	3182	c.3103C>T	c.(3103-3105)Cgt>Tgt	p.R1035C	IGSF1_ENST00000370903.3_Missense_Mutation_p.R1040C|IGSF1_ENST00000370910.1_Missense_Mutation_p.R1026C|IGSF1_ENST00000370904.1_Missense_Mutation_p.R1026C|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1035	Ig-like C2-type 10.				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)	p.R1035C(1)		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						CAGCTGTAACGCCCCATGCTA	0.517																																							0											1	Substitution - Missense(1)	large_intestine(1)											151	126	134					X																	130409533		2203	4300	6503	SO:0001583	missense	0			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.3103C>T	X.37:g.130409533G>A	ENSP00000355010:p.Arg1035Cys		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R1040C	ENST00000361420.3	37	c.3118	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748617	0.49257	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.67	4.67	0.58626	Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000220	T	0.38692	0.1050	M	0.84326	2.69	0.44000	D	0.996709	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.976;0.997	T	0.22208	-1.0223	10	0.66056	D	0.02	.	11.8031	0.52139	0.0:0.0:1.0:0.0	.	1026;479;1035	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	C	1026;1035;1026;1040	ENSP00000359947:R1026C;ENSP00000355010:R1035C;ENSP00000359941:R1026C;ENSP00000359940:R1040C	ENSP00000355010:R1035C	R	-	1	0	IGSF1	130237214	0.896000	0.30565	0.991000	0.47740	0.643000	0.38383	2.156000	0.42310	2.562000	0.86427	0.600000	0.82982	CGT	0	smart_Ig_sub,smart_Ig_sub2		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	protein_coding	OTTHUMT00000058288.1	15	92	0	0.00	0	0	G		0	0		130409533	-1	no_errors	ENST00000370903	ensembl	human	known	74_37	missense	9	38	59.09	62.38	13	63	SNP	0.987	A	A	130409533	G	A	130409533	3	1	66	1	0	0	0	0	1	0	0	0	7596	1087	38	1	927	1	IGSF1	23	130409533	Missense_Mutation	SNP	G	TCGA-XU-A92O-01A-11D-A423-09		130409533	24861027	25	761											
F8	2157	genome.wustl.edu	37	chrX	154159467	154159467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgactcaggggtaaatacCatgtccccactgtgatggag	10	9	11	11	0	1	2	1	2	0	0	2	3	2	3	4	3	1	1	4	3	3	2			TCGA-XU-A92O-01A-11D-A423-09	TCGA-XU-A92O-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b709c45-4614-4f0d-9755-8aa7b4fd607b	823164d7-42e4-47d7-9f02-71de862ee763	g.chrX:154159467C>A	ENST00000360256.4	-	14	2798	c.2598G>T	c.(2596-2598)atG>atT	p.M866I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	866	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)	GGGTAAATACCATGTCCCCAC	0.428																																							0											0													80	70	74					X																	154159467		2203	4298	6501	SO:0001583	missense	0			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.2598G>T	X.37:g.154159467C>A	ENSP00000353393:p.Met866Ile		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.M866I	ENST00000360256.4	37	c.2598	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	C	2.777	-0.254409	0.05829	.	.	ENSG00000185010	ENST00000360256	D	0.98996	-5.31	4.81	1.83	0.25207	.	0.964568	0.08592	N	0.922837	D	0.94208	0.8141	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.90511	0.4481	10	0.38643	T	0.18	-0.382	4.8116	0.13345	0.0:0.4103:0.0:0.5897	.	866	P00451	FA8_HUMAN	I	866	ENSP00000353393:M866I	ENSP00000353393:M866I	M	-	3	0	F8	153812661	0.060000	0.20803	0.190000	0.23270	0.644000	0.38419	0.310000	0.19356	0.562000	0.29204	-0.268000	0.10319	ATG	0	NULL		0.428	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	21	88	0	0.00	0	0	C		0	0		154159467	-1	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	2	49	87.5	67.11	14	100	SNP	0.024	A	A	154159467	C	A	154159467	3	1	66	1	0	0	0	0	1	0	0	0	5350	594	21	5	4537	5	F8	23	154159467	Missense_Mutation	SNP	C	TCGA-XU-A92O-01A-11D-A423-09	23749934	154159467	1111093	26	762											
HRNR	388697	genome.wustl.edu	37	chr1	152189038	152189038	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagacccatgctgaccAtagcgggaagacgaacgtga	13	4	13	11	3	0	4	0	2	0	2	0	7	0	5	3	1	4	1	3	1	3	1	rs145118416	byFrequency	TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr1:152189038A>G	ENST00000368801.2	-	3	5142	c.5067T>C	c.(5065-5067)taT>taC	p.Y1689Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1689					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)			CATGCTGACCATAGCGGGAAG	0.617																																							0											0								A		321,2979		2,317,1331	67	73	71		5067	-0.7	0	1	dbSNP_134	71	363,6063		1,361,2851	no	coding-synonymous	HRNR	NM_001009931.1		3,678,4182	GG,GA,AA		5.6489,9.7273,7.0327		1689/2851	152189038	684,9042	1650	3213	4863	SO:0001819	synonymous_variant	0			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.5067T>C	1.37:g.152189038A>G			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Y1689	ENST00000368801.2	37	c.5067	CCDS30859.1	1																																																																																			0	NULL		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	34	32	0	0.00	0	0	A	XM_373868	rs145118416	A->G		152189038	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	39	21	23.53	8.70	12	2	SNP	0	G	G	152189038	A	G	152189038	2	3	67	1	0	0	0	0	0	0	0	1	7359	224	8	3		3	HRNR	1	152189038	Silent	SNP	A	TCGA-XU-A92Q-01A-11D-A423-09		152189038	97061583	1	763											
ACTR2	10097	genome.wustl.edu	37	chr2	65495807	65495807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacaacttttggatgacccGacaagagtaccaagaaaagg	17	6	10	8	1	0	4	0	1	0	3	0	6	0	5	2	2	2	1	2	2	6	3			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr2:65495807G>A	ENST00000260641.5	+	9	1281	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	ACTR2_ENST00000377982.4_Missense_Mutation_p.R380Q	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	375					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|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)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)	p.R375Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TGGATGACCCGACAAGAGTAC	0.473																																							0											1	Substitution - Missense(1)	endometrium(1)											106	99	101					2																	65495807		2203	4300	6503	SO:0001583	missense	0			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"ARP2 (actin-related protein 2, yeast) homolog"			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.1124G>A	2.37:g.65495807G>A	ENSP00000260641:p.Arg375Gln		B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R380Q	ENST00000260641.5	37	c.1139	CCDS1881.1	2	.	.	.	.	.	.	.	.	.	.	G	30	5.057144	0.93846	.	.	ENSG00000138071	ENST00000260641;ENST00000377982;ENST00000535303	D;D	0.95412	-3.7;-3.7	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.96204	0.8762	M	0.78344	2.41	0.80722	D	1	P;P	0.49185	0.92;0.862	P;P	0.46026	0.501;0.501	D	0.96351	0.9258	10	0.87932	D	0	-7.3709	20.3789	0.98926	0.0:0.0:1.0:0.0	.	375;380	P61160;E9PF41	ARP2_HUMAN;.	Q	375;380;320	ENSP00000260641:R375Q;ENSP00000367220:R380Q	ENSP00000260641:R375Q	R	+	2	0	ACTR2	65349311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.826000	0.97356	0.563000	0.77884	CGA	0	pfam_Actin-related,smart_Actin-related		0.473	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR2	protein_coding	OTTHUMT00000251730.1	137	103	0	0.00	0	0	G	NM_001005386	0	0		65495807	1	no_errors	ENST00000377982	ensembl	human	known	74_37	missense	89	53	44.03	48.04	70	49	SNP	1	A	A	65495807	G	A	65495807	3	1	67	1	0	0	0	0	1	0	0	0	211	1058	37	2	1177	2	ACTR2	2	65495807	Missense_Mutation	SNP	G	TCGA-XU-A92Q-01A-11D-A423-09		65495807	177703566	2	764											
TTN	7273	genome.wustl.edu	37	chr2	179437644	179437644	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggcaggttccccaagtccTtcggaattcatggcatagat	10	10	11	10	1	1	1	1	0	0	1	4	2	3	2	3	4	0	3	3	4	3	4			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr2:179437644T>A	ENST00000591111.1	-	276	68516	c.68292A>T	c.(68290-68292)gaA>gaT	p.E22764D	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15465D|TTN_ENST00000460472.2_Missense_Mutation_p.E15340D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E15532D|TTN_ENST00000589042.1_Missense_Mutation_p.E24405D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21837D			Q8WZ42	TITIN_HUMAN	titin	22764	Fibronectin type-III 65. {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)			CCCCAAGTCCTTCGGAATTCA	0.483																																							0											0													85	86	86					2																	179437644		1948	4143	6091	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68292A>T	2.37:g.179437644T>A	ENSP00000465570:p.Glu22764Asp		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.E21837D	ENST00000591111.1	37	c.65511		2	.	.	.	.	.	.	.	.	.	.	T	11.34	1.608501	0.28623	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.91	4.55	0.56014	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55081	0.1898	L	0.41961	1.31	0.51233	D	0.999914	D;D;D;D	0.61697	0.99;0.99;0.99;0.981	P;P;P;P	0.59012	0.85;0.85;0.85;0.793	T	0.57382	-0.7821	9	0.87932	D	0	.	4.4627	0.11673	0.1373:0.1852:0.0:0.6775	.	15340;15465;15532;22764	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	21837;15340;15532;15465;15338	ENSP00000343764:E21837D;ENSP00000434586:E15340D;ENSP00000340554:E15532D;ENSP00000352154:E15465D	ENSP00000340554:E15532D	E	-	3	2	TTN	179145890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.432000	0.34936	0.865000	0.35603	0.533000	0.62120	GAA	0	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	32	203	0	0.00	0	0	T	NM_133378	0	0		179437644	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	13	104	64.86	44.39	24	83	SNP	1	A	A	179437644	T	A	179437644	3	1	67	1	0	0	0	0	1	0	0	0	16732	1606	56	5	34912	5	TTN	2	179437644	Missense_Mutation	SNP	T	TCGA-XU-A92Q-01A-11D-A423-09	113941837	179437644	63761729	3	765											
MECOM	2122	genome.wustl.edu	37	chr3	169099264	169099264	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactccatctgcatctggcAtttcttccaaaggtatttca	9	15	5	12	0	4	0	1	0	3	0	6	0	6	0	2	2	2	3	2	2	3	5			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr3:169099264A>G	ENST00000494292.1	-	2	183	c.86T>C	c.(85-87)aTg>aCg	p.M29T	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	29					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						TGCATCTGGCATTTCTTCCAA	0.423																																							0											0													49	50	49					3																	169099264		1920	4128	6048	SO:0001583	missense	0			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	ENST00000494292.1:c.86T>C	3.37:g.169099264A>G	ENSP00000417899:p.Met29Thr		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.M29T	ENST00000494292.1	37	c.86		3	.	.	.	.	.	.	.	.	.	.	A	9.658	1.143479	0.21205	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	T	0.05081	3.5	5.83	5.83	0.93111	.	0.071601	0.64402	D	0.000014	T	0.07234	0.0183	L	0.57536	1.79	0.80722	D	1	B;B	0.24721	0.11;0.0	B;B	0.21151	0.033;0.0	T	0.28650	-1.0037	10	0.21540	T	0.41	.	7.3289	0.26571	0.7821:0.1458:0.0721:0.0	.	29;29	Q13465;Q03112-3	MDS1_HUMAN;.	T	29;53	ENSP00000417899:M29T	ENSP00000419537:M53T	M	-	2	0	MECOM	170581958	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	1.733000	0.38156	2.240000	0.73641	0.528000	0.53228	ATG	0	NULL		0.423	MECOM-004	KNOWN	basic|appris_principal	protein_coding	MECOM	protein_coding	OTTHUMT00000351517.3	82	189	0	0.00	0	0	A	NM_005241, NM_004991	0	0		169099264	-1	no_errors	ENST00000494292	ensembl	human	known	74_37	missense	26	143	50.94	35.14	27	78	SNP	0.998	G	G	169099264	A	G	169099264	3	3	67	1	0	0	0	0	1	0	0	0	9422	217	8	3	3707	3	MECOM	3	169099264	Missense_Mutation	SNP	A	TCGA-XU-A92Q-01A-11D-A423-09		169099264	28923166	4	766											
KIF13A	63971	genome.wustl.edu	37	chr6	17764739	17764739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctccctttggctaaggCactgttttccttgagtggca	5	14	12	10	0	0	1	0	1	0	0	2	1	2	1	2	4	0	5	2	4	1	5			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr6:17764739C>A	ENST00000259711.6	-	39	5125	c.5020G>T	c.(5020-5022)Gcc>Tcc	p.A1674S	KIF13A_ENST00000378826.2_Missense_Mutation_p.A1639S|KIF13A_ENST00000378843.2_Missense_Mutation_p.A1626S|KIF13A_ENST00000378816.5_Missense_Mutation_p.A1639S|KIF13A_ENST00000378814.5_Missense_Mutation_p.A1626S	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1674					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)			TTGGCTAAGGCACTGTTTTCC	0.483																																							0											0													114	110	111					6																	17764739		2008	4176	6184	SO:0001583	missense	0			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.5020G>T	6.37:g.17764739C>A	ENSP00000259711:p.Ala1674Ser		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.A1674S	ENST00000259711.6	37	c.5020	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306221	0.81247	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.76186	-0.98;1.56;-0.85;-1.0;-0.99;-1.0	5.95	5.95	0.96441	.	0.200046	0.40385	N	0.001102	T	0.58906	0.2155	L	0.32530	0.975	0.39283	D	0.964597	B;P;P;P	0.39665	0.417;0.59;0.682;0.59	B;B;B;B	0.40444	0.124;0.329;0.24;0.329	T	0.58504	-0.7625	10	0.22706	T	0.39	.	20.3719	0.98893	0.0:1.0:0.0:0.0	.	1626;1639;1674;1626	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	S	1626;678;1674;1639;1626;1639	ENSP00000368091:A1626S;ENSP00000425616:A678S;ENSP00000259711:A1674S;ENSP00000368103:A1639S;ENSP00000368120:A1626S;ENSP00000368093:A1639S	ENSP00000259711:A1674S	A	-	1	0	KIF13A	17872718	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.359000	0.66074	2.826000	0.97356	0.491000	0.48974	GCC	0	NULL		0.483	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	protein_coding	OTTHUMT00000039954.4	60	188	0	0.53	0	1	C		0	0		17764739	-1	no_errors	ENST00000259711	ensembl	human	known	74_37	missense	41	124	34.92	39.22	22	80	SNP	1	A	A	17764739	C	A	17764739	3	1	67	1	0	0	0	0	1	0	0	0	8274	710	25	5	426	5	KIF13A	6	17764739	Missense_Mutation	SNP	C	TCGA-XU-A92Q-01A-11D-A423-09		17764739	153350328	5	767											
BVES	11149	genome.wustl.edu	37	chr6	105563600	105563600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaccccgaagaaactggtGcaagccgtcgtcactgtcac	10	7	11	13	3	2	1	2	0	0	1	3	2	2	1	3	2	4	2	3	2	4	1			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr6:105563600G>A	ENST00000314641.5	-	7	1135	c.919C>T	c.(919-921)Cac>Tac	p.H307Y	BVES_ENST00000336775.5_Missense_Mutation_p.H307Y|BVES_ENST00000446408.2_Missense_Mutation_p.H307Y	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	307					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGAAACTGGTGCAAGCCGTCG	0.488																																							0											0													188	160	169					6																	105563600		2203	4300	6503	SO:0001583	missense	0			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.919C>T	6.37:g.105563600G>A	ENSP00000313172:p.His307Tyr		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.H307Y	ENST00000314641.5	37	c.919	CCDS5051.1	6	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386243	0.42308	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.18502	2.21;2.21;2.21	5.95	5.95	0.96441	.	0.200919	0.52532	D	0.000069	T	0.09158	0.0226	L	0.36672	1.1	0.35773	D	0.821059	B	0.28208	0.203	B	0.28638	0.092	T	0.14559	-1.0468	10	0.25106	T	0.35	-26.1962	20.3802	0.98930	0.0:0.0:1.0:0.0	.	307	Q8NE79	POPD1_HUMAN	Y	307	ENSP00000313172:H307Y;ENSP00000337259:H307Y;ENSP00000397310:H307Y	ENSP00000313172:H307Y	H	-	1	0	BVES	105670293	1.000000	0.71417	0.979000	0.43373	0.891000	0.51852	5.022000	0.64078	2.822000	0.97130	0.563000	0.77884	CAC	0	NULL		0.488	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BVES	protein_coding	OTTHUMT00000406075.1	72	143	0	0.00	0	0	G	NM_147147	0	0		105563600	-1	no_errors	ENST00000314641	ensembl	human	known	74_37	missense	32	110	41.82	37.50	23	66	SNP	0.998	A	A	105563600	G	A	105563600	3	1	67	1	0	0	0	0	1	0	0	0	1575	1319	46	3	171	3	BVES	6	105563600	Missense_Mutation	SNP	G	TCGA-XU-A92Q-01A-11D-A423-09	87798861	105563600	65551467	6	768											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	293	102	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	182	70	41.53	48.91	130	67	SNP	1	A	A	74146970	T	A	74146970	3	1	67	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-XU-A92Q-01A-11D-A423-09		74146970	84991693	7	769											
AHCYL2	23382	genome.wustl.edu	37	chr7	129049331	129049331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacagtatggatggatttcGactggtgaaattaaatgagg	14	11	12	4	1	0	2	0	2	0	0	1	5	0	4	0	4	1	1	0	4	5	3			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr7:129049331G>A	ENST00000325006.3	+	11	1364	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q	AHCYL2_ENST00000446544.2_Missense_Mutation_p.R436Q|AHCYL2_ENST00000490911.1_Missense_Mutation_p.R334Q|AHCYL2_ENST00000474594.1_Missense_Mutation_p.R334Q|AHCYL2_ENST00000446212.1_Missense_Mutation_p.R335Q|AHCYL2_ENST00000531335.2_Missense_Mutation_p.R356Q	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	437					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GATGGATTTCGACTGGTGAAA	0.393																																					Pancreas(160;1736 1964 29875 40941 45605)		0											0													124	113	116					7																	129049331		2203	4300	6503	SO:0001583	missense	0			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1310G>A	7.37:g.129049331G>A	ENSP00000315931:p.Arg437Gln		B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase	p.R437Q	ENST00000325006.3	37	c.1310	CCDS5812.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.269993|4.269993	0.80469|0.80469	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.76578	.|-1.03;-1.03;-1.01;-1.0;-1.01;-1.0	5.68|5.68	5.68|5.68	0.88126|0.88126	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71031|0.71031	0.3292|0.3292	L|L	0.47016|0.47016	1.485|1.485	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;P;P;P	.|0.51791	.|0.487;0.487;0.948;0.487;0.936	.|B;B;B;B;B	.|0.38296	.|0.184;0.184;0.27;0.184;0.176	T|T	0.72609|0.72609	-0.4241|-0.4241	5|10	.|0.35671	.|T	.|0.21	-8.0719|-8.0719	17.2855|17.2855	0.87140|0.87140	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|334;335;437;334;436	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	N|Q	344|437;436;356;334;335;334	.|ENSP00000315931:R437Q;ENSP00000413639:R436Q;ENSP00000431787:R356Q;ENSP00000420459:R334Q;ENSP00000405267:R335Q;ENSP00000420801:R334Q	.|ENSP00000315931:R437Q	D|R	+|+	1|2	0|0	AHCYL2|AHCYL2	128836567|128836567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.105000|9.105000	0.94246|0.94246	2.685000|2.685000	0.91497|0.91497	0.650000|0.650000	0.86243|0.86243	GAC|CGA	0	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase		0.393	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHCYL2	protein_coding	OTTHUMT00000354065.1	77	266	0	0.00	0	0	G		0	0		129049331	1	no_errors	ENST00000325006	ensembl	human	known	74_37	missense	62	204	35.42	36.73	34	119	SNP	1	A	A	129049331	G	A	129049331	3	1	67	1	0	0	0	0	1	0	0	0	411	1058	37	2	1474	2	AHCYL2	7	129049331	Missense_Mutation	SNP	G	TCGA-XU-A92Q-01A-11D-A423-09	54902361	129049331	30089332	8	770											
NOL6	65083	genome.wustl.edu	37	chr9	33472349	33472349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggttcagccaatgtaCgcttcctggaggatgctttc	7	12	12	10	1	1	0	1	0	0	0	3	3	2	3	2	4	3	4	2	4	2	4	rs369599517		TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr9:33472349C>T	ENST00000379471.2	-	2	203	c.116G>A	c.(115-117)cGt>cAt	p.R39H	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.R39H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	39					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R39H(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGCCAATGTACGCTTCCTGGA	0.552																																							0											1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	126	102	110		116,116	1.1	0	9		110	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	NOL6	NM_022917.4,NM_139235.3	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	39/1147,39/700	33472349	2,13004	2203	4300	6503	SO:0001583	missense	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.116G>A	9.37:g.33472349C>T	ENSP00000368784:p.Arg39His		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.R39H	ENST00000379471.2	37	c.116		9	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093956	0.36952	0.0	2.33E-4	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.48836	0.8;1.4;1.39;1.34	5.04	1.07	0.20283	.	0.385127	0.30556	N	0.009368	T	0.32071	0.0817	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.20368	0.004;0.009;0.019;0.044;0.011	B;B;B;B;B	0.16289	0.002;0.002;0.009;0.015;0.002	T	0.23940	-1.0174	10	0.51188	T	0.08	.	9.3956	0.38401	0.0:0.6088:0.0:0.3912	.	39;39;39;39;39	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	H	39	ENSP00000313978:R39H;ENSP00000297990:R39H;ENSP00000368784:R39H;ENSP00000395915:R39H	ENSP00000297990:R39H	R	-	2	0	NOL6	33462349	0.002000	0.14202	0.003000	0.11579	0.036000	0.12997	0.184000	0.16939	0.255000	0.21593	0.655000	0.94253	CGT	0	NULL		0.552	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	protein_coding	OTTHUMT00000001019.2	28	167	0	0.58	0	1	C	NM_022917	rs369599517	C->T		33472349	-1	no_errors	ENST00000297990	ensembl	human	known	74_37	missense	13	98	53.57	35.95	15	55	SNP	0.003	T	T	33472349	C	T	33472349	3	4	67	1	0	0	0	0	1	0	0	0	10525	536	19	1	3424	1	NOL6	9	33472349	Missense_Mutation	SNP	C	TCGA-XU-A92Q-01A-11D-A423-09		33472349	107741082	9	771											
ZNF462	58499	genome.wustl.edu	37	chr9	109690685	109690685	+	Frame_Shift_Del	DEL	G	G	-																															agaagcaccctggcatgaaaGtgaaggctgctgactttgcc																										TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr9:109690685delG	ENST00000277225.5	+	3	4781	c.4492delG	c.(4492-4494)gtgfs	p.V1498fs	ZNF462_ENST00000441147.2_Frame_Shift_Del_p.V343fs|ZNF462_ENST00000457913.1_Frame_Shift_Del_p.V1498fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1498					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						TGGCATGAAAGTGAAGGCTGC	0.517																																							0											0													98	86	90					9																	109690685		2203	4300	6503	SO:0001589	frameshift_variant	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4492delG	9.37:g.109690685delG	ENSP00000277225:p.Val1498fs		Q5T0T4|Q8N408	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V1498fs	ENST00000277225.5	37	c.4492	CCDS35096.1	9																																																																																			0	pfscan_Znf_C2H2		0.517	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	protein_coding	OTTHUMT00000053532.2	24	111	0	0.00	0	0	G	NM_021224	0	0		109690685	1	no_errors	ENST00000457913	ensembl	human	known	74_37	frame_shift_del	26	69	39.53	40.00	17	46	DEL	1	0	-	109690685	G	-	109690685	7	5	67	1	0	1	0	1	0	0	0	0	17923	1029	36	0	4498	0	ZNF462	9	109690685	Frame_Shift_Del	DEL	G	TCGA-XU-A92Q-01A-11D-A423-09	76218336	109690685	31522746	10	772											
CEP110	11064	genome.wustl.edu	37	chr9	123906272	123906272	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccgtggccacctctgataAgctagccacagctgagctca	10	7	10	14	1	2	2	1	2	1	0	2	2	2	2	4	1	5	3	4	1	2	2			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr9:123906272A>T	ENST00000373855.1	+	20	3223	c.2963A>T	c.(2962-2964)aAg>aTg	p.K988M	CNTRL_ENST00000373847.1_Missense_Mutation_p.K436M|CNTRL_ENST00000238341.5_Missense_Mutation_p.K988M|CNTRL_ENST00000373850.1_Missense_Mutation_p.K436M			Q7Z7A1	CNTRL_HUMAN	centriolin	988					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						ACCTCTGATAAGCTAGCCACA	0.423																																							0											0													49	47	48					9																	123906272		2203	4300	6503	SO:0001583	missense	0			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.2963A>T	9.37:g.123906272A>T	ENSP00000362962:p.Lys988Met		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.K988M	ENST00000373855.1	37	c.2963	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374257	0.82573	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.39787	1.41;1.41;1.41;1.06	5.96	5.96	0.96718	.	.	.	.	.	T	0.53965	0.1829	L	0.29908	0.895	0.42524	D	0.993013	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.57837	-0.7742	9	0.72032	D	0.01	.	15.6089	0.76699	1.0:0.0:0.0:0.0	.	988;988	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	M	988;988;988;470;436;436	ENSP00000362962:K988M;ENSP00000238341:K988M;ENSP00000362956:K436M;ENSP00000362953:K436M	ENSP00000238341:K988M	K	+	2	0	CNTRL	122946093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.131000	0.64751	2.279000	0.76181	0.533000	0.62120	AAG	0	NULL		0.423	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	protein_coding	OTTHUMT00000250216.1	53	211	0	0.00	0	0	A	NM_007018	0	0		123906272	1	no_errors	ENST00000238341	ensembl	human	known	74_37	missense	38	176	29.63	33.08	16	87	SNP	1	T	T	123906272	A	T	123906272	3	4	67	1	0	0	0	0	1	0	0	0	3245	72	3	5	3033	5	CEP110	9	123906272	Missense_Mutation	SNP	A	TCGA-XU-A92Q-01A-11D-A423-09	14215587	123906272	17307159	11	773											
LRSAM1	90678	genome.wustl.edu	37	chr9	130236179	130236179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccctgatgggcccacggAcagattctcaagggaggagt	10	6	14	11	1	1	2	1	1	1	1	2	5	1	5	2	4	1	0	2	4	1	1			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr9:130236179A>G	ENST00000323301.4	+	10	1323	c.719A>G	c.(718-720)gAc>gGc	p.D240G	LRSAM1_ENST00000373324.4_Missense_Mutation_p.D240G|LRSAM1_ENST00000373322.1_Missense_Mutation_p.D240G|Y_RNA_ENST00000363918.1_RNA|LRSAM1_ENST00000300417.6_Missense_Mutation_p.D240G	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	240					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GGGCCCACGGACAGATTCTCA	0.542																																							0											0													113	82	93					9																	130236179		2203	4300	6503	SO:0001583	missense	0			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.719A>G	9.37:g.130236179A>G	ENSP00000322937:p.Asp240Gly		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.D240G	ENST00000323301.4	37	c.719	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	A	3.328	-0.137196	0.06711	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.34859	1.37;1.34;1.37;1.37	5.38	-0.179	0.13299	Insulin-like (1);	1.262380	0.04972	N	0.464050	T	0.23289	0.0563	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17379	-1.0371	10	0.18276	T	0.48	-1.2892	4.0057	0.09600	0.4274:0.2012:0.3714:0.0	.	240;240	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	G	240	ENSP00000300417:D240G;ENSP00000362421:D240G;ENSP00000322937:D240G;ENSP00000362419:D240G	ENSP00000300417:D240G	D	+	2	0	LRSAM1	129276000	0.106000	0.21978	0.006000	0.13384	0.197000	0.23852	0.515000	0.22801	0.100000	0.17581	0.454000	0.30748	GAC	0	NULL		0.542	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	protein_coding	OTTHUMT00000054164.1	32	148	0	0.00	0	0	A	NM_138361	0	0		130236179	1	no_errors	ENST00000300417	ensembl	human	known	74_37	missense	17	67	39.29	41.23	11	47	SNP	0.008	G	G	130236179	A	G	130236179	3	3	67	1	0	0	0	0	1	0	0	0	9043	275	10	3	753	3	LRSAM1	9	130236179	Missense_Mutation	SNP	A	TCGA-XU-A92Q-01A-11D-A423-09	6329907	130236179	10977252	12	774											
SURF4	6836	genome.wustl.edu	37	chr9	136230397	136230397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttcttcttctcatccatgGagacacccccagggcccagg	7	9	8	17	0	3	1	1	0	3	1	5	2	4	1	5	3	0	0	5	3	0	3			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr9:136230397G>A	ENST00000371989.3	-	6	911	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'Flank|SURF4_ENST00000545297.1_3'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	261					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CTCATCCATGGAGACACCCCC	0.557																																							0											0													83	82	82					9																	136230397		2203	4300	6503	SO:0001583	missense	0				CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.782C>T	9.37:g.136230397G>A	ENSP00000361057:p.Ser261Phe		B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	pfam_Surf4	p.S261F	ENST00000371989.3	37	c.782	CCDS6968.1	9	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421837	0.83559	.	.	ENSG00000148248	ENST00000371989;ENST00000541390	.	.	.	5.45	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.86464	0.5939	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90419	0.4415	9	0.87932	D	0	-16.544	15.3524	0.74399	0.0:0.1402:0.8598:0.0	.	252;261	B7Z7A8;O15260	.;SURF4_HUMAN	F	261;252	.	ENSP00000361057:S261F	S	-	2	0	SURF4	135220218	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.345000	0.97053	1.283000	0.44513	0.591000	0.81541	TCC	0	pfam_Surf4		0.557	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF4	protein_coding	OTTHUMT00000054886.1	40	207	0	0.00	0	0	G	NM_033161	0	0		136230397	-1	no_errors	ENST00000371989	ensembl	human	known	74_37	missense	39	113	30.36	37.91	17	69	SNP	1	A	A	136230397	G	A	136230397	3	1	67	1	0	0	0	0	1	0	0	0	15402	1174	41	3	31	3	SURF4	9	136230397	Missense_Mutation	SNP	G	TCGA-XU-A92Q-01A-11D-A423-09	5994218	136230397	4983034	13	775											
HRAS	3265	genome.wustl.edu	37	chr11	533544	533544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccacagtgcgtgcagccAggtcacacttgttccccacc	8	9	8	16	1	1	0	1	0	0	0	3	0	3	0	5	1	3	2	5	1	0	3			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr11:533544A>G	ENST00000451590.1	-	4	546	c.359T>C	c.(358-360)cTg>cCg	p.L120P	HRAS_ENST00000311189.7_Missense_Mutation_p.L120P|HRAS_ENST00000397594.1_Missense_Mutation_p.L120P|HRAS_ENST00000417302.1_Missense_Mutation_p.L120P|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000397596.2_Missense_Mutation_p.L120P	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	120					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;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)		GCGTGCAGCCAGGTCACACTT	0.627		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	0													194	173	180					11																	533544		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.359T>C	11.37:g.533544A>G	ENSP00000407586:p.Leu120Pro		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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.L120P	ENST00000451590.1	37	c.359	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955307	0.73902	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	4.08	2.94	0.34122	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.92286	0.7553	H	0.99794	4.785	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.70016	0.965;0.967	D	0.92243	0.5802	10	0.87932	D	0	.	8.3156	0.32097	0.9029:0.0:0.0971:0.0	.	120;120	P01112-2;P01112	.;RASH_HUMAN	P	120	ENSP00000380722:L120P;ENSP00000380723:L120P;ENSP00000407586:L120P;ENSP00000388246:L120P;ENSP00000309845:L120P	ENSP00000309845:L120P	L	-	2	0	HRAS	523544	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	7.344000	0.79328	1.624000	0.50355	0.459000	0.35465	CTG	0	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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		0.627	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	54	193	0	0.00	0	0	A	NM_176795	0	0		533544	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	37	61	43.08	44.55	28	49	SNP	1	G	G	533544	A	G	533544	3	3	67	1	0	0	0	0	1	0	0	0	7348	188	7	4	285	4	HRAS	11	533544	Missense_Mutation	SNP	A	TCGA-XU-A92Q-01A-11D-A423-09		533544	134472972	14	776											
KCNMB4	27345	genome.wustl.edu	37	chr12	70760622	70760622	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgctcttcatcttcggCttctgctggctgagtcccgc	2	14	11	14	3	4	1	1	1	3	0	7	1	5	1	1	2	1	4	1	2	0	3			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr12:70760622C>G	ENST00000258111.4	+	1	567	c.108C>G	c.(106-108)ggC>ggG	p.G36G		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	36					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)	TCATCTTCGGCTTCTGCTGGC	0.612																																							0											0													54	44	48					12																	70760622		2203	4300	6503	SO:0001819	synonymous_variant	0			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.108C>G	12.37:g.70760622C>G			Q8IVR3|Q9NPA4|Q9P0G5	Silent	SNP	pfam_K_chnl_Ca-activ_BK_bsu	p.G36	ENST00000258111.4	37	c.108	CCDS8997.1	12																																																																																			0	pfam_K_chnl_Ca-activ_BK_bsu		0.612	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNMB4	protein_coding	OTTHUMT00000395208.1	31	29	0	0.00	0	0	C	NM_014505	0	0		70760622	1	no_errors	ENST00000258111	ensembl	human	known	74_37	silent	23	18	45.24	43.75	19	14	SNP	1	G	G	70760622	C	G	70760622	2	3	67	1	0	0	0	0	0	0	0	1	8077	784	28	5		5	KCNMB4	12	70760622	Silent	SNP	C	TCGA-XU-A92Q-01A-11D-A423-09		70760622	63091273	15	777											
UTP20	27340	genome.wustl.edu	37	chr12	101776972	101776972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaggcggagtctgacggaGaagagaaggaagaggtgaag	16	3	19	3	2	1	6	0	2	1	4	1	10	1	8	0	5	0	0	0	5	5	0			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr12:101776972G>A	ENST00000261637.4	+	59	7984	c.7810G>A	c.(7810-7812)Gaa>Aaa	p.E2604K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2604					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						GTCTGACGGAGAAGAGAAGGA	0.502																																							0											0													65	73	70					12																	101776972		2203	4300	6503	SO:0001583	missense	0			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.7810G>A	12.37:g.101776972G>A	ENSP00000261637:p.Glu2604Lys		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.E2604K	ENST00000261637.4	37	c.7810	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408837	0.25378	.	.	ENSG00000120800	ENST00000261637	T	0.09073	3.02	3.95	0.924	0.19418	.	0.593188	0.19219	N	0.119729	T	0.04679	0.0127	N	0.21583	0.68	0.20196	N	0.999926	B	0.10296	0.003	B	0.09377	0.004	T	0.45527	-0.9255	10	0.15952	T	0.53	0.0037	6.6068	0.22729	0.1696:0.1473:0.6831:0.0	.	2604	O75691	UTP20_HUMAN	K	2604	ENSP00000261637:E2604K	ENSP00000261637:E2604K	E	+	1	0	UTP20	100301103	0.657000	0.27393	0.001000	0.08648	0.070000	0.16714	3.018000	0.49625	-0.122000	0.11766	-0.148000	0.13756	GAA	0	NULL		0.502	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	protein_coding	OTTHUMT00000408242.1	23	70	0	0.00	0	0	G	NM_014503	0	0		101776972	1	no_errors	ENST00000261637	ensembl	human	known	74_37	missense	21	48	40	44.83	14	39	SNP	0.052	A	A	101776972	G	A	101776972	3	1	67	1	0	0	0	0	1	0	0	0	17096	943	33	3	8044	3	UTP20	12	101776972	Missense_Mutation	SNP	G	TCGA-XU-A92Q-01A-11D-A423-09	31016350	101776972	32074923	16	778											
CHGA	1113	genome.wustl.edu	37	chr14	93397798	93397798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaacacccaccctccaGccagcctccccagccagaaa	12	2	4	23	0	0	1	0	0	0	1	2	1	2	1	10	0	4	0	10	0	2	0			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr14:93397798G>T	ENST00000216492.5	+	6	839	c.559G>T	c.(559-561)Gcc>Tcc	p.A187S	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	187	O-glycosylated at one site only in cerebrospinal fluid.				regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CCACCCTCCAGCCAGCCTCCC	0.657																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)		0											0													23	27	26					14																	93397798		2201	4298	6499	SO:0001583	missense	0				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.559G>T	14.37:g.93397798G>T	ENSP00000216492:p.Ala187Ser		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.A187S	ENST00000216492.5	37	c.559	CCDS9906.1	14	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756152	0.31137	.	.	ENSG00000100604	ENST00000216492	T	0.01613	4.73	4.94	-0.571	0.11749	.	0.806157	0.11871	N	0.521477	T	0.01387	0.0045	L	0.41236	1.265	0.09310	N	0.999999	B	0.21606	0.058	B	0.17098	0.017	T	0.49041	-0.8980	10	0.06236	T	0.91	-4.5298	5.4497	0.16556	0.2642:0.295:0.4408:0.0	.	187	P10645	CMGA_HUMAN	S	187	ENSP00000216492:A187S	ENSP00000216492:A187S	A	+	1	0	CHGA	92467551	0.031000	0.19500	0.445000	0.26908	0.833000	0.47200	0.798000	0.27014	-0.060000	0.13132	0.555000	0.69702	GCC	0	pfam_Granin		0.657	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	protein_coding	OTTHUMT00000412411.1	39	101	0	0.00	0	0	G	NM_001275	0	0		93397798	1	no_errors	ENST00000216492	ensembl	human	known	74_37	missense	28	56	40.43	37.36	19	34	SNP	0.07	T	T	93397798	G	T	93397798	3	4	67	1	0	0	0	0	1	0	0	0	3338	971	34	5	581	5	CHGA	14	93397798	Missense_Mutation	SNP	G	TCGA-XU-A92Q-01A-11D-A423-09		93397798	13951742	17	779											
LIG3	3980	genome.wustl.edu	37	chr17	33319039	33319039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatgatctgaagatgaactCaggtgcaaaacatgtgtaag	16	9	10	6	0	2	4	1	3	1	1	2	4	2	4	0	1	3	2	0	1	5	1	rs143109771		TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr17:33319039C>T	ENST00000378526.4	+	7	1404	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	LIG3_ENST00000262327.5_Missense_Mutation_p.S424L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	424					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.S424*(1)|p.S337*(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AAGATGAACTCAGGTGCAAAA	0.448								Other BER factors																															0											2	Substitution - Nonsense(2)	skin(2)											136	119	125					17																	33319039		2203	4300	6503	SO:0001583	missense	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1271C>T	17.37:g.33319039C>T	ENSP00000367787:p.Ser424Leu		Q16714|Q6NVK3	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,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_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.S424L	ENST00000378526.4	37	c.1271	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235690	0.79800	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.13778	2.56;2.56	5.5	5.5	0.81552	DNA ligase, ATP-dependent, N-terminal (3);	0.243620	0.42821	D	0.000657	T	0.12347	0.0300	L	0.34521	1.04	0.58432	D	0.999996	B;B;B	0.19073	0.013;0.013;0.033	B;B;B	0.23018	0.043;0.043;0.043	T	0.10613	-1.0622	10	0.08837	T	0.75	-3.4811	18.5685	0.91126	0.0:1.0:0.0:0.0	.	424;424;424	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	L	424	ENSP00000367787:S424L;ENSP00000262327:S424L	ENSP00000262327:S424L	S	+	2	0	LIG3	30343152	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.706000	0.68362	2.861000	0.98227	0.655000	0.94253	TCA	0	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep		0.448	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	protein_coding	OTTHUMT00000250330.3	34	139	0	0.00	0	0	C	NM_013975	0	0		33319039	1	no_errors	ENST00000378526	ensembl	human	known	74_37	missense	23	83	36.11	34.65	13	44	SNP	0.934	T	T	33319039	C	T	33319039	3	4	67	1	0	0	0	0	1	0	0	0	8782	838	29	3	1293	3	LIG3	17	33319039	Missense_Mutation	SNP	C	TCGA-XU-A92Q-01A-11D-A423-09		33319039	47876171	18	780											
MUC16	94025	genome.wustl.edu	37	chr19	9005592	9005592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtccctatccagggtgtAgggtcccagctcagtgatgc	7	10	12	12	0	1	1	1	1	0	0	4	1	4	1	3	2	2	2	3	2	2	2			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr19:9005592A>G	ENST00000397910.4	-	46	40017	c.39814T>C	c.(39814-39816)Tac>Cac	p.Y13272H	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13274	SEA 8. {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						TCCAGGGTGTAGGGTCCCAGC	0.552																																							0											0													179	161	167					19																	9005592		2045	4189	6234	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39814T>C	19.37:g.9005592A>G	ENSP00000381008:p.Tyr13272His		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.Y13272H	ENST00000397910.4	37	c.39814	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	12.70	2.015478	0.35511	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.25250	1.81	3.51	3.51	0.40186	.	.	.	.	.	T	0.53318	0.1789	M	0.88640	2.97	.	.	.	D;D	0.76494	0.999;0.96	D;P	0.87578	0.998;0.887	T	0.68637	-0.5356	8	0.87932	D	0	-5.6225	8.9719	0.35912	1.0:0.0:0.0:0.0	.	20917;13272	Q8WXI7;B5ME49	MUC16_HUMAN;.	H	13272;403	ENSP00000381008:Y13272H	ENSP00000381008:Y13272H	Y	-	1	0	MUC16	8866592	0.998000	0.40836	0.800000	0.32199	0.127000	0.20565	2.891000	0.48617	1.536000	0.49237	0.374000	0.22700	TAC	0	NULL		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	60	33	0	0.00	0	0	A	NM_024690	0	0		9005592	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	22	26	45	29.73	18	11	SNP	0.959	G	G	9005592	A	G	9005592	3	3	67	1	0	0	0	0	1	0	0	0	9973	420	15	4	3865	4	MUC16	19	9005592	Missense_Mutation	SNP	A	TCGA-XU-A92Q-01A-11D-A423-09		9005592	50123391	19	781											
CLPTM1	1209	genome.wustl.edu	37	chr19	45495976	45495976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccacagctgccgcccccGtggccgaggttcccacagca	7	4	10	20	3	0	0	0	0	0	0	1	1	1	0	7	2	3	3	7	2	0	1	rs199735762		TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr19:45495976G>A	ENST00000337392.5	+	14	1981	c.1831G>A	c.(1831-1833)Gtg>Atg	p.V611M	CLPTM1_ENST00000541297.2_Missense_Mutation_p.V597M|CLPTM1_ENST00000546079.1_Missense_Mutation_p.V509M	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	611					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)		TGCCGCCCCCGTGGCCGAGGT	0.652													G|||	1	0.000199681	8e-04	0	5008	,	,		14570	0		0	False		,,,				2504	0						0.9998,0.0001997											0								G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	68	73	71		1831	2.1	0.2	19		71	0,8600		0,0,4300	no	missense	CLPTM1	NM_001294.2	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	611/670	45495976	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1831G>A	19.37:g.45495976G>A	ENSP00000336994:p.Val611Met		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	pfam_CLPTM1	p.V611M	ENST00000337392.5	37	c.1831	CCDS12651.1	19	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	8.906	0.957600	0.18507	2.27E-4	0.0	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	3.17	2.08	0.27032	.	1.659760	0.03423	N	0.206674	T	0.18923	0.0454	N	0.14661	0.345	0.09310	N	0.999992	B;P	0.40360	0.199;0.714	B;B	0.34590	0.186;0.065	T	0.21895	-1.0232	9	0.48119	T	0.1	-2.5126	6.802	0.23756	0.1337:0.0:0.8663:0.0	.	597;611	F5H8J3;O96005	.;CLPT1_HUMAN	M	509;597;611;611	.	ENSP00000336994:V611M	V	+	1	0	CLPTM1	50187816	0.002000	0.14202	0.184000	0.23157	0.031000	0.12232	1.073000	0.30691	0.868000	0.35678	0.558000	0.71614	GTG	0	NULL		0.652	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	protein_coding	OTTHUMT00000453267.1	38	154	0	0.00	0	0	G	NM_001294	rs199735762	G->A		45495976	1	no_errors	ENST00000337392	ensembl	human	known	74_37	missense	24	79	36.84	31.62	14	37	SNP	0.332	A	A	45495976	G	A	45495976	3	1	67	1	0	0	0	0	1	0	0	0	3554	1145	40	1	1885	1	CLPTM1	19	45495976	Missense_Mutation	SNP	G	TCGA-XU-A92Q-01A-11D-A423-09	36490384	45495976	13633007	20	782											
FAM83D	81610	genome.wustl.edu	37	chr20	37576538	37576538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaatgacagttcggactaTcacaggaaatatctactatg	14	12	8	7	1	2	1	1	1	1	0	3	3	2	3	0	2	1	2	0	2	6	6			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chr20:37576538T>C	ENST00000217429.4	+	3	802	c.761T>C	c.(760-762)aTc>aCc	p.I254T		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	224					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GTTCGGACTATCACAGGAAAT	0.433																																							0											0													138	130	132					20																	37576538		1927	4129	6056	SO:0001583	missense	0			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.761T>C	20.37:g.37576538T>C	ENSP00000217429:p.Ile254Thr		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	pfam_DUF1669	p.I254T	ENST00000217429.4	37	c.761	CCDS42872.1	20	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062246	0.76187	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.12255	2.7	6.16	6.16	0.99307	.	0.157938	0.53938	D	0.000055	T	0.32194	0.0821	L	0.52126	1.63	0.49915	D	0.999834	D	0.89917	1.0	D	0.72075	0.976	T	0.00615	-1.1643	10	0.38643	T	0.18	.	16.4795	0.84153	0.0:0.0:0.0:1.0	.	224	Q9H4H8	FA83D_HUMAN	T	254;208	ENSP00000217429:I254T	ENSP00000217429:I254T	I	+	2	0	FAM83D	37009952	0.998000	0.40836	0.998000	0.56505	0.828000	0.46876	7.671000	0.83941	2.367000	0.80283	0.528000	0.53228	ATC	0	pfam_DUF1669		0.433	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83D	protein_coding	OTTHUMT00000079211.1	102	193	0	0.00	0	0	T		0	0		37576538	1	no_errors	ENST00000217429	ensembl	human	known	74_37	missense	61	123	42.99	39.71	46	81	SNP	1	C	C	37576538	T	C	37576538	3	2	67	1	0	0	0	0	1	0	0	0	5636	1435	50	3	771	3	FAM83D	20	37576538	Missense_Mutation	SNP	T	TCGA-XU-A92Q-01A-11D-A423-09		37576538	25448982	21	783											
CAPN6	827	genome.wustl.edu	37	chrX	110494930	110494930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtatggcccttcagcagaCcccaatcagtttcaacttct	10	11	7	13	0	4	1	3	0	1	1	4	1	4	1	3	2	2	3	3	2	3	4			TCGA-XU-A92Q-01A-11D-A423-09	TCGA-XU-A92Q-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	268c3e39-3acb-45d8-9c61-c13c46d1e906	aa5d7f36-ebc8-4ea0-80f6-5b82c96aa61f	g.chrX:110494930C>T	ENST00000324068.1	-	6	907	c.740G>A	c.(739-741)gGt>gAt	p.G247D	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	247	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CTTCAGCAGACCCCAATCAGT	0.453																																							0											0													265	256	259					X																	110494930		2203	4300	6503	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.740G>A	X.37:g.110494930C>T	ENSP00000317214:p.Gly247Asp		D3DUY7|Q9UEQ1|Q9UJA8	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.G247D	ENST00000324068.1	37	c.740	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822108	0.90873	.	.	ENSG00000077274	ENST00000324068	T	0.60171	0.21	6.17	6.17	0.99709	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.86243	0.5886	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90671	0.4598	10	0.72032	D	0.01	.	19.7362	0.96205	0.0:1.0:0.0:0.0	.	247	Q9Y6Q1	CAN6_HUMAN	D	247	ENSP00000317214:G247D	ENSP00000317214:G247D	G	-	2	0	CAPN6	110381586	1.000000	0.71417	0.978000	0.43139	0.918000	0.54935	7.486000	0.81215	2.618000	0.88619	0.600000	0.82982	GGT	0	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.453	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	protein_coding	OTTHUMT00000057922.1	25	70	0	0.00	0	0	C		0	0		110494930	-1	no_errors	ENST00000324068	ensembl	human	known	74_37	missense	4	15	84	78.87	21	56	SNP	1	T	T	110494930	C	T	110494930	3	4	67	1	0	0	0	0	1	0	0	0	2630	507	18	3	1217	3	CAPN6	23	110494930	Missense_Mutation	SNP	C	TCGA-XU-A92Q-01A-11D-A423-09		110494930	44775630	22	784											
CSMD2	114784	genome.wustl.edu	37	chr1	34164425	34164425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctcctcactaccccGcaggctgtatccagggtcac	8	7	9	17	1	2	0	2	0	0	0	4	0	4	0	4	2	3	5	4	2	2	2			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr1:34164425G>A	ENST00000373380.1	-	3	692	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	CSMD2_ENST00000373381.4_Missense_Mutation_p.R1285W|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1245	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1245W(1)		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)				TCACTACCCCGCAGGCTGTAT	0.602																																							0											1	Substitution - Missense(1)	large_intestine(1)											81	78	79					1																	34164425		2203	4300	6503	SO:0001583	missense	0			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.472C>T	1.37:g.34164425G>A	ENSP00000362478:p.Arg158Trp		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.R1285W	ENST00000373380.1	37	c.3853		1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847745	0.71603	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65732	-0.17;-0.17	5.76	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.064952	0.64402	D	0.000009	T	0.75398	0.3844	M	0.62266	1.93	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;P;P	0.69307	0.963;0.892;0.892	T	0.78157	-0.2313	10	0.66056	D	0.02	.	14.5371	0.67969	0.0:0.0:0.735:0.265	.	158;1245;1285	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	W	1285;158	ENSP00000362479:R1285W;ENSP00000362478:R158W	ENSP00000241312:R1245W	R	-	1	2	CSMD2	33937012	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.128000	0.42045	1.522000	0.49001	0.650000	0.86243	CGG	0	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.602	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000030635.4	74	100	0	0.00	0	0	G	NM_052896	0	0		34164425	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	49	86	12.28	14.00	7	14	SNP	1	A	A	34164425	G	A	34164425	3	1	68	1	0	0	0	0	1	0	0	0	3945	1086	38	1	6914	1	CSMD2	1	34164425	Missense_Mutation	SNP	G	TCGA-XU-A92R-01A-11D-A423-09		34164425	215086196	1	785											
RAD54L	8438	genome.wustl.edu	37	chr1	46726520	46726520	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcacattgatgtggacacTtttacgccagagtccagagt	11	11	9	10	1	1	3	1	1	0	2	2	4	2	4	2	1	1	0	2	1	1	3			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr1:46726520T>G	ENST00000371975.4	+	7	1273	c.599T>G	c.(598-600)cTt>cGt	p.L200R	RAD54L_ENST00000442598.1_Missense_Mutation_p.L200R|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	200	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		ATGTGGACACTTTTACGCCAG	0.542								Direct reversal of damage;Homologous recombination																															0											0													109	97	101					1																	46726520		2203	4300	6503	SO:0001583	missense	0			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.599T>G	1.37:g.46726520T>G	ENSP00000361043:p.Leu200Arg		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.L200R	ENST00000371975.4	37	c.599	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549075	0.86127	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	D;D	0.95103	-3.61;-3.61	5.38	5.38	0.77491	DEAD-like helicase (2);SNF2-related (1);	0.062794	0.64402	D	0.000007	D	0.97445	0.9164	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.98288	1.0512	10	0.87932	D	0	-15.9085	15.7161	0.77670	0.0:0.0:0.0:1.0	.	20;200	G3V1N0;Q92698	.;RAD54_HUMAN	R	200;200;20	ENSP00000396113:L200R;ENSP00000361043:L200R	ENSP00000361043:L200R	L	+	2	0	RAD54L	46499107	1.000000	0.71417	0.995000	0.50966	0.946000	0.59487	6.259000	0.72494	2.176000	0.68965	0.533000	0.62120	CTT	0	pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.542	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	protein_coding	OTTHUMT00000021272.1	40	130	0	0.00	0	0	T	NM_003579	0	0		46726520	1	no_errors	ENST00000371975	ensembl	human	known	74_37	missense	16	97	33.33	11.01	8	12	SNP	1	G	G	46726520	T	G	46726520	3	3	68	1	0	0	0	0	1	0	0	0	12993	1609	56	5	625	5	RAD54L	1	46726520	Missense_Mutation	SNP	T	TCGA-XU-A92R-01A-11D-A423-09	12562095	46726520	202524101	2	786											
APOB	338	genome.wustl.edu	37	chr2	21227522	21227522	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttagaggctaacgtaccAtcttcgattttgtgtgttcc	7	16	9	9	2	2	1	0	0	2	1	4	2	3	1	2	1	2	3	2	1	3	7			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr2:21227522A>G	ENST00000233242.1	-	27	11941	c.11814T>C	c.(11812-11814)gaT>gaC	p.D3938D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3938					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)					CTAACGTACCATCTTCGATTT	0.373																																							0											0													160	150	153					2																	21227522		2203	4300	6503	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11814T>C	2.37:g.21227522A>G			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.D3938	ENST00000233242.1	37	c.11814	CCDS1703.1	2																																																																																			0	NULL		0.373	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	96	347	0	0.00	0	0	A		0	0		21227522	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	87	254	9.38	5.58	9	15	SNP	0.837	G	G	21227522	A	G	21227522	2	3	68	1	0	0	0	0	0	0	0	1	785	214	8	3		3	APOB	2	21227522	Silent	SNP	A	TCGA-XU-A92R-01A-11D-A423-09		21227522	221971851	3	787											
TTN	7273	genome.wustl.edu	37	chr2	179479385	179479385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaagttattttaggttcagGttttccggttacggtggcag	7	15	12	7	2	1	0	1	0	0	0	2	0	2	0	2	5	1	5	2	5	4	7			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr2:179479385G>T	ENST00000591111.1	-	211	44157	c.43933C>A	c.(43933-43935)Cct>Act	p.P14645T	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7413T|TTN_ENST00000342992.6_Missense_Mutation_p.P13718T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P16286T|TTN_ENST00000359218.5_Missense_Mutation_p.P7346T|TTN_ENST00000460472.2_Missense_Mutation_p.P7221T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14645	Ig-like 96.				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)			TTAGGTTCAGGTTTTCCGGTT	0.433																																							0											0													103	93	96					2																	179479385		1867	4107	5974	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43933C>A	2.37:g.179479385G>T	ENSP00000465570:p.Pro14645Thr		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.P13718T	ENST00000591111.1	37	c.41152		2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407840	0.42715	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.63	5.63	0.86233	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);	.	.	.	.	D	0.92873	0.7733	H	0.99130	4.44	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	0.95328	0.8427	9	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	7221;7346;7413;14645	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13718;7221;7413;7346;7221	ENSP00000343764:P13718T;ENSP00000434586:P7221T;ENSP00000340554:P7413T;ENSP00000352154:P7346T	ENSP00000340554:P7413T	P	-	1	0	TTN	179187630	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.751000	0.98889	2.805000	0.96524	0.655000	0.94253	CCT	0	pfam_Ig_I-set,superfamily_Calpain_domain_III,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	46	393	0	0.00	0	0	G	NM_133378	0	0		179479385	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	47	260	7.84	12.75	4	38	SNP	1	T	T	179479385	G	T	179479385	3	4	68	1	0	0	0	0	1	0	0	0	16732	1261	44	5	59245	5	TTN	2	179479385	Missense_Mutation	SNP	G	TCGA-XU-A92R-01A-11D-A423-09	158251863	179479385	63719988	4	788											
MON1A	84315	genome.wustl.edu	37	chr3	49948021	49948021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggctggcgctcacagtgtCgcgcacggccgccgccaggg	5	4	16	16	6	1	0	1	0	0	0	2	0	1	0	3	4	0	3	3	4	0	0			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr3:49948021C>T	ENST00000417270.1	-	5	1627	c.934G>A	c.(934-936)Gac>Aac	p.D312N	MON1A_ENST00000296473.3_Missense_Mutation_p.D401N|MON1A_ENST00000455683.2_Missense_Mutation_p.D239N|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000483022.1_5'Flank			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	304										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)		CTCACAGTGTCGCGCACGGCC	0.697																																							0											0													16	19	18					3																	49948021		2195	4281	6476	SO:0001583	missense	0			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	ENST00000417270.1:c.934G>A	3.37:g.49948021C>T	ENSP00000399613:p.Asp312Asn		B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1	p.D401N	ENST00000417270.1	37	c.1201		3	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784289	0.70222	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.72	5.72	0.89469	.	0.040522	0.85682	D	0.000000	T	0.74989	0.3789	L	0.47016	1.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.984;0.963;0.991	T	0.71441	-0.4592	8	.	.	.	-19.0873	19.8863	0.96913	0.0:1.0:0.0:0.0	.	142;239;304	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	N	401;312;239	.	.	D	-	1	0	MON1A	49923025	1.000000	0.71417	0.803000	0.32268	0.041000	0.13682	7.807000	0.86032	2.712000	0.92718	0.555000	0.69702	GAC	0	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1		0.697	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	MON1A	protein_coding	OTTHUMT00000345538.2	12	8	0	0.00	0	0	C	NM_032355	0	0		49948021	-1	no_errors	ENST00000296473	ensembl	human	known	74_37	missense	14	5	22.22	0.00	4	0	SNP	1	T	T	49948021	C	T	49948021	3	4	68	1	0	0	0	0	1	0	0	0	9698	884	31	2	769	2	MON1A	3	49948021	Missense_Mutation	SNP	C	TCGA-XU-A92R-01A-11D-A423-09		49948021	148074409	5	789											
GFM1	85476	genome.wustl.edu	37	chr3	158399829	158399829	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtggtgcaggccagtaTggaaaagtaataggtgtcct	11	10	14	6	0	1	0	1	0	0	0	2	1	2	1	2	5	1	3	2	5	5	3			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr3:158399829T>A	ENST00000486715.1	+	14	2004	c.1647T>A	c.(1645-1647)taT>taA	p.Y549*	GFM1_ENST00000478576.1_Nonsense_Mutation_p.Y549*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.Y568*	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)			CAGGCCAGTATGGAAAAGTAA	0.353																																							0											0													53	53	53					3																	158399829		2203	4300	6503	SO:0001587	stop_gained	0			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.1647T>A	3.37:g.158399829T>A	ENSP00000419038:p.Tyr549*			Nonsense_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.Y549*	ENST00000486715.1	37	c.1647	CCDS33885.1	3	.	.	.	.	.	.	.	.	.	.	T	38	7.214550	0.98139	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	.	.	.	6.03	4.86	0.63082	.	0.278806	0.36134	N	0.002775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3064	11.2367	0.48944	0.0:0.1235:0.0:0.8765	.	.	.	.	X	549;549;568	.	ENSP00000264263:Y568X	Y	+	3	2	GFM1	159882523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.503000	0.35715	2.308000	0.77769	0.533000	0.62120	TAT	0	pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,tigrfam_Transl_elong_EFG/EF2		0.353	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	protein_coding	OTTHUMT00000352271.1	99	300	0	0.33	0	1	T	NM_024996	0	0		158399829	1	no_errors	ENST00000486715	ensembl	human	known	74_37	nonsense	191	214	9.48	12.65	20	31	SNP	1	A	A	158399829	T	A	158399829	4	1	68	1	0	0	0	0	0	1	0	0	6341	1471	51	5	1701	5	GFM1	3	158399829	Nonsense_Mutation	SNP	T	TCGA-XU-A92R-01A-11D-A423-09	108451808	158399829	39622601	6	790											
PCDHA13	56136	genome.wustl.edu	37	chr5	140262573	140262573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgaatgacaacgccccGgaattttaccaatccgttta	12	10	8	11	4	0	2	0	2	0	0	1	4	1	3	4	1	2	1	4	1	6	4			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr5:140262573G>A	ENST00000289272.2	+	1	720	c.720G>A	c.(718-720)ccG>ccA	p.P240P	PCDHA13_ENST00000409494.1_Silent_p.P240P|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	240	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)|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)			ACAACGCCCCGGAATTTTACC	0.448																																					Melanoma(147;1739 1852 5500 27947 37288)		0											0													67	66	66					5																	140262573		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.720G>A	5.37:g.140262573G>A			O75277	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P240	ENST00000289272.2	37	c.720	CCDS4240.1	5																																																																																			0	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	protein_coding	OTTHUMT00000335000.1	56	262	0	0.38	0	1	G	NM_018904	0	0		140262573	1	no_errors	ENST00000289272	ensembl	human	known	74_37	silent	92	220	13.21	9.43	14	23	SNP	0	A	A	140262573	G	A	140262573	2	1	68	1	0	0	0	0	0	0	0	1	11523	1103	39	2		2	PCDHA13	5	140262573	Silent	SNP	G	TCGA-XU-A92R-01A-11D-A423-09		140262573	40652687	7	791											
MUC21	394263	genome.wustl.edu	37	chr6	30955023	30955023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaacctccagtggggcCagcacagccaccaactctgg	11	4	10	16	0	1	0	0	0	1	0	2	0	2	0	5	3	5	2	5	3	2	0	rs143942912	byFrequency	TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr6:30955023C>T	ENST00000376296.3	+	2	1312	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	357	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						CCAGTGGGGCCAGCACAGCCA	0.642																																							0											0													135	134	134					6																	30955023		2202	4299	6501	SO:0001819	synonymous_variant	0			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.1071C>T	6.37:g.30955023C>T			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	NULL	p.A357	ENST00000376296.3	37	c.1071	CCDS34388.1	6																																																																																			0	NULL		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	protein_coding	OTTHUMT00000128579.3	40	0	2.44	0.00	1	0	C	NM_001010909	rs143942912	C->T		30955023	1	no_errors	ENST00000376296	ensembl	human	known	74_37	silent	70	0	23.08	0.00	21	0	SNP	0.029	T	T	30955023	C	T	30955023	2	4	68	1	0	0	0	0	0	0	0	1	9977	581	21	3		3	MUC21	6	30955023	Silent	SNP	C	TCGA-XU-A92R-01A-11D-A423-09		30955023	140160044	8	792											
UTRN	7402	genome.wustl.edu	37	chr6	145069474	145069474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgggaaagtctaaatgctGtaactagcaattggcaaaag	17	9	10	5	0	1	0	0	0	1	0	1	1	1	1	0	2	3	4	0	2	9	4			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr6:145069474G>T	ENST00000367545.3	+	54	8032	c.8032G>T	c.(8032-8034)Gta>Tta	p.V2678L	UTRN_ENST00000367526.4_Missense_Mutation_p.V233L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2678					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)		TCTAAATGCTGTAACTAGCAA	0.458																																							0											0													64	62	63					6																	145069474		2203	4300	6503	SO:0001583	missense	0			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.8032G>T	6.37:g.145069474G>T	ENSP00000356515:p.Val2678Leu		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.V2678L	ENST00000367545.3	37	c.8032	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	11.66	1.706212	0.30232	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.59502	0.26;3.6	5.47	4.59	0.56863	.	0.479778	0.17561	N	0.169802	T	0.14485	0.0350	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06092	-1.0846	10	0.59425	D	0.04	.	2.6711	0.05067	0.1651:0.1453:0.5394:0.1501	.	2678	P46939	UTRO_HUMAN	L	2678;233	ENSP00000356515:V2678L;ENSP00000356496:V233L	ENSP00000356496:V233L	V	+	1	0	UTRN	145111167	0.989000	0.36119	0.413000	0.26509	0.960000	0.62799	2.523000	0.45580	1.278000	0.44430	0.563000	0.77884	GTA	0	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.458	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	protein_coding	OTTHUMT00000042551.1	57	186	0	0.00	0	0	G		0	0		145069474	1	no_errors	ENST00000367545	ensembl	human	known	74_37	missense	105	123	7.89	10.87	9	15	SNP	0.007	T	T	145069474	G	T	145069474	3	4	68	1	0	0	0	0	1	0	0	0	17100	1377	48	5	8246	5	UTRN	6	145069474	Missense_Mutation	SNP	G	TCGA-XU-A92R-01A-11D-A423-09	114114451	145069474	26045593	9	793											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	265	124	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	465	120	11.93	12.41	63	17	SNP	1	A	A	74146970	T	A	74146970	3	1	68	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-XU-A92R-01A-11D-A423-09		74146970	84991693	10	794											
C7orf29	113763	genome.wustl.edu	37	chr7	150028151	150028151	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttactgggagaagaagCgagaagcctggccaccatct	11	7	13	10	1	1	3	0	0	1	3	1	5	1	3	3	3	3	1	3	3	4	1	rs183629147		TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr7:150028151C>T	ENST00000343855.4	+	1	1214	c.658C>T	c.(658-660)Cga>Tga	p.R220*	LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	220																	GGAGAAGAAGCGAGAAGCCTG	0.547																																							0											0													48	53	51					7																	150028151		2203	4300	6503	SO:0001587	stop_gained	0			BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"chromosome 7 open reading frame 29"	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.658C>T	7.37:g.150028151C>T	ENSP00000343242:p.Arg220*			Nonsense_Mutation	SNP	NULL	p.R220*	ENST00000343855.4	37	c.658	CCDS5900.1	7	.	.	.	.	.	.	.	.	.	.	C	38	6.860283	0.97893	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.95	-2.94	0.05581	.	17.945300	0.00531	U	0.000201	.	.	.	.	.	.	0.28262	N	0.924768	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	5.9802	0.19403	0.1326:0.3134:0.0:0.554	.	.	.	.	X	220	.	ENSP00000343242:R220X	R	+	1	2	C7orf29	149659084	0.004000	0.15560	0.002000	0.10522	0.685000	0.39939	0.011000	0.13264	-0.640000	0.05495	-0.484000	0.04775	CGA	0	NULL		0.547	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED6CL	protein_coding	OTTHUMT00000350702.1	43	203	0	0.00	0	0	C	NM_138434	0	0		150028151	1	no_errors	ENST00000343855	ensembl	human	known	74_37	nonsense	48	123	15.79	13.38	9	19	SNP	0.002	T	T	150028151	C	T	150028151	4	4	68	1	0	0	0	0	0	1	0	0	2385	760	27	1	660	1	C7orf29	7	150028151	Nonsense_Mutation	SNP	C	TCGA-XU-A92R-01A-11D-A423-09	75881181	150028151	9110512	11	795											
ZNF658	26149	genome.wustl.edu	37	chr9	40774255	40774255	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgttttctgatgtactatAtgggctgagctctggctaaa	8	16	11	6	0	2	2	0	2	2	0	2	2	2	2	0	2	2	5	0	2	5	6			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr9:40774255A>C	ENST00000602553.1	-	5	1314	c.1020T>G	c.(1018-1020)caT>caG	p.H340Q	ZNF658_ENST00000441795.1_Missense_Mutation_p.H338Q|ZNF658_ENST00000377626.3_Missense_Mutation_p.H340Q			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	340					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)		GATGTACTATATGGGCTGAGC	0.388																																							0											0													64	67	66					9																	40774255		2198	4279	6477	SO:0001583	missense	0			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.1020T>G	9.37:g.40774255A>C	ENSP00000473484:p.His340Gln		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	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.H340Q	ENST00000602553.1	37	c.1020	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	a	8.979	0.974927	0.18736	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.14893	2.47;2.47	1.65	0.457	0.16661	.	.	.	.	.	T	0.08714	0.0216	N	0.24115	0.695	0.09310	N	1	P;B	0.35821	0.523;0.182	B;B	0.26864	0.074;0.019	T	0.24119	-1.0169	9	0.72032	D	0.01	.	4.9493	0.14006	0.8178:0.0:0.1822:0.0	.	340;340	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	Q	338;340	ENSP00000408462:H338Q;ENSP00000366853:H340Q	ENSP00000366853:H340Q	H	-	3	2	ZNF658	40764255	0.000000	0.05858	0.000000	0.03702	0.338000	0.28826	-1.358000	0.02604	0.125000	0.18397	0.315000	0.21342	CAT	0	NULL		0.388	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	protein_coding	OTTHUMT00000467800.1	93	122	1.06	1.61	1	2	A	NM_033160	0	0		40774255	-1	no_errors	ENST00000377626	ensembl	human	known	74_37	missense	127	80	8.63	8.05	12	7	SNP	0.003	C	C	40774255	A	C	40774255	3	2	68	1	0	0	0	0	1	0	0	0	18066	446	16	5	2163	5	ZNF658	9	40774255	Missense_Mutation	SNP	A	TCGA-XU-A92R-01A-11D-A423-09		40774255	100439176	12	796											
TECTA	7007	genome.wustl.edu	37	chr11	120996317	120996317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgcgactccggctgcGtcgacaactgcacccagtgc	8	6	13	14	4	0	0	0	0	0	0	2	3	1	1	2	2	5	2	2	2	2	0			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr11:120996317G>C	ENST00000392793.1	+	8	1781	c.1510G>C	c.(1510-1512)Gtc>Ctc	p.V504L	TECTA_ENST00000264037.2_Missense_Mutation_p.V504L			O75443	TECTA_HUMAN	tectorin alpha	504	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)		CTCCGGCTGCGTCGACAACTG	0.622																																							0											0													86	88	87					11																	120996317		2203	4299	6502	SO:0001583	missense	0			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.1510G>C	11.37:g.120996317G>C	ENSP00000376543:p.Val504Leu			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.V504L	ENST00000392793.1	37	c.1510	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.320466	0.01320	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.36878	1.23;1.23	5.02	0.681	0.17986	von Willebrand factor, type D domain (1);	0.507685	0.19972	N	0.101952	T	0.11281	0.0275	N	0.03999	-0.3	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.19844	-1.0293	10	0.10111	T	0.7	.	1.7279	0.02925	0.2125:0.166:0.4347:0.1868	.	504	O75443	TECTA_HUMAN	L	504	ENSP00000376543:V504L;ENSP00000264037:V504L	ENSP00000264037:V504L	V	+	1	0	TECTA	120501527	0.595000	0.26857	0.854000	0.33618	0.071000	0.16799	0.890000	0.28295	0.245000	0.21373	-0.222000	0.12452	GTC	0	NULL		0.622	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	20	37	0	0.00	0	0	G	NM_005422	0	0		120996317	1	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	11	25	21.43	7.41	3	2	SNP	0.127	C	C	120996317	G	C	120996317	3	2	68	1	0	0	0	0	1	0	0	0	15744	1145	40	5	1536	5	TECTA	11	120996317	Missense_Mutation	SNP	G	TCGA-XU-A92R-01A-11D-A423-09		120996317	14010199	13	797											
RAB3IP	117177	genome.wustl.edu	37	chr12	70195489	70195489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcttctgcagttgaatGcggaggaccaaagtaggttt	12	10	13	6	1	1	1	0	1	1	0	1	4	1	3	1	3	3	5	1	3	4	4			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr12:70195489G>A	ENST00000247833.7	+	8	1494	c.1118G>A	c.(1117-1119)tGc>tAc	p.C373Y	RAB3IP_ENST00000325555.9_Missense_Mutation_p.C167Y|RAB3IP_ENST00000551641.1_Missense_Mutation_p.C167Y|AC025263.3_ENST00000550437.1_Missense_Mutation_p.C14Y|RAB3IP_ENST00000553099.1_Missense_Mutation_p.C167Y|RAB3IP_ENST00000483530.2_Missense_Mutation_p.C373Y|RAB3IP_ENST00000550847.1_Missense_Mutation_p.C80Y|RAB3IP_ENST00000550536.1_Missense_Mutation_p.C389Y|RAB3IP_ENST00000362025.5_Missense_Mutation_p.C389Y					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GCAGTTGAATGCGGAGGACCA	0.403																																							0											0													96	90	92					12																	70195489		2203	4300	6503	SO:0001583	missense	0				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1118G>A	12.37:g.70195489G>A	ENSP00000247833:p.Cys373Tyr			Missense_Mutation	SNP	pfam_Sec2p	p.C389Y	ENST00000247833.7	37	c.1166	CCDS8995.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.395570|4.395570	0.83011|0.83011	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000526994|ENST00000247833;ENST00000483530;ENST00000325555;ENST00000550536;ENST00000362025;ENST00000551641;ENST00000553099;ENST00000550847	.|T;T;T;T;T;T;T;T	.|0.48201	.|0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67363|0.67363	0.2885|0.2885	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.71674	.|0.767;0.998;0.767	.|P;P;P	.|0.61940	.|0.661;0.896;0.661	T|T	0.67562|0.67562	-0.5639|-0.5639	5|10	.|0.51188	.|T	.|0.08	.|.	19.621|19.621	0.95656|0.95656	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|389;389;373	.|Q96QF0-4;Q96QF0;Q96QF0-3	.|.;RAB3I_HUMAN;.	T|Y	105|373;373;167;389;389;167;167;80	.|ENSP00000247833:C373Y;ENSP00000419216:C373Y;ENSP00000323349:C167Y;ENSP00000447300:C389Y;ENSP00000355381:C389Y;ENSP00000448773:C167Y;ENSP00000448027:C167Y;ENSP00000448102:C80Y	.|ENSP00000447336:C14Y	A|C	+|+	1|2	0|0	RAB3IP|RAB3IP	68481756|68481756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.087000|9.087000	0.94110|0.94110	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GCG|TGC	0	NULL		0.403	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3IP	protein_coding	OTTHUMT00000280671.2	70	336	0	0.00	0	0	G	NM_022456	0	0		70195489	1	no_errors	ENST00000550536	ensembl	human	known	74_37	missense	83	203	7.78	12.12	7	28	SNP	1	A	A	70195489	G	A	70195489	3	1	68	1	0	0	0	0	1	0	0	0	12938	1319	46	3	1196	3	RAB3IP	12	70195489	Missense_Mutation	SNP	G	TCGA-XU-A92R-01A-11D-A423-09		70195489	63656406	14	798											
ELF1	1997	genome.wustl.edu	37	chr13	41515206	41515206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gactgcgtgggctgcactgtCctcaaaacttctgatggttg	7	12	12	10	1	2	1	1	1	1	0	3	2	3	1	1	2	3	3	1	2	2	2			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr13:41515206C>T	ENST00000239882.3	-	8	1421	c.1107G>A	c.(1105-1107)agG>agA	p.R369R	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Silent_p.R345R	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	369					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GCTGCACTGTCCTCAAAACTT	0.498																																							0											0													174	154	161					13																	41515206		2203	4300	6503	SO:0001819	synonymous_variant	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1107G>A	13.37:g.41515206C>T			B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Silent	SNP	pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R369	ENST00000239882.3	37	c.1107	CCDS9374.1	13																																																																																			0	NULL		0.498	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	protein_coding	OTTHUMT00000044654.3	80	241	0	0.41	0	1	C	NM_172373	0	0		41515206	-1	no_errors	ENST00000239882	ensembl	human	known	74_37	silent	86	169	12.24	13.33	12	26	SNP	1	T	T	41515206	C	T	41515206	2	4	68	1	0	0	0	0	0	0	0	1	5053	854	30	3		3	ELF1	13	41515206	Silent	SNP	C	TCGA-XU-A92R-01A-11D-A423-09		41515206	73654672	15	799											
TRIM9	114088	genome.wustl.edu	37	chr14	51561552	51561552	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtctgcaccaggatgtTgcgggcgcacgcctgacaca	7	7	15	12	3	1	1	0	1	1	0	1	2	1	2	2	4	2	3	2	4	0	1			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr14:51561552T>G	ENST00000298355.3	-	1	1227	c.106A>C	c.(106-108)Aac>Cac	p.N36H	TRIM9_ENST00000360392.4_Missense_Mutation_p.N36H|TRIM9_ENST00000338969.5_Missense_Mutation_p.N36H	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	36					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACCAGGATGTTGCGGGCGCAC	0.607																																							0											0													22	26	25					14																	51561552		2203	4300	6503	SO:0001583	missense	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.106A>C	14.37:g.51561552T>G	ENSP00000298355:p.Asn36His		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,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	p.N36H	ENST00000298355.3	37	c.106	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118166	0.56505	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	D;T;D	0.86769	-2.17;2.27;-2.17	5.0	5.0	0.66597	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	0.89255	0.6663	L	0.40543	1.245	0.46874	D	0.999236	D;D;B	0.69078	0.997;0.997;0.027	D;D;B	0.66351	0.943;0.916;0.035	D	0.89463	0.3738	10	0.52906	T	0.07	.	12.7051	0.57056	0.0:0.0:0.0:1.0	.	36;36;36	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	H	36	ENSP00000298355:N36H;ENSP00000342970:N36H;ENSP00000353561:N36H	ENSP00000298355:N36H	N	-	1	0	TRIM9	50631302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.595000	0.61048	2.117000	0.64856	0.459000	0.35465	AAC	0	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.607	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	protein_coding	OTTHUMT00000276874.1	68	88	0	0.00	0	0	T	NM_015163	0	0		51561552	-1	no_errors	ENST00000338969	ensembl	human	known	74_37	missense	82	69	11.83	5.48	11	4	SNP	1	G	G	51561552	T	G	51561552	3	3	68	1	0	0	0	0	1	0	0	0	16546	1812	63	5	2116	5	TRIM9	14	51561552	Missense_Mutation	SNP	T	TCGA-XU-A92R-01A-11D-A423-09		51561552	55787988	16	800											
GTF3C1	2975	genome.wustl.edu	37	chr16	27523094	27523094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcgtaggtctgtgtgagcaTatcccgctcgaacacaatgt	9	11	11	10	3	1	1	0	1	1	0	4	2	2	1	1	1	2	3	1	1	4	2			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr16:27523094T>C	ENST00000356183.4	-	7	1117	c.1102A>G	c.(1102-1104)Atg>Gtg	p.M368V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.M368V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	368					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						TGTGTGAGCATATCCCGCTCG	0.502																																							0											0													200	149	166					16																	27523094		2197	4300	6497	SO:0001583	missense	0			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.1102A>G	16.37:g.27523094T>C	ENSP00000348510:p.Met368Val		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.M368V	ENST00000356183.4	37	c.1102	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565410	0.65651	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22336	1.96	5.64	5.64	0.86602	.	0.138042	0.64402	D	0.000005	T	0.34454	0.0898	L	0.29908	0.895	0.41036	D	0.985195	P;D	0.63046	0.539;0.992	B;D	0.74674	0.113;0.984	T	0.06041	-1.0849	10	0.41790	T	0.15	-5.9122	15.5262	0.75910	0.0:0.0:0.0:1.0	.	368;368	Q12789;Q12789-3	TF3C1_HUMAN;.	V	368;366	ENSP00000348510:M368V	ENSP00000348510:M368V	M	-	1	0	GTF3C1	27430595	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.439000	0.59968	2.146000	0.66826	0.528000	0.53228	ATG	0	NULL		0.502	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	protein_coding	OTTHUMT00000433856.1	50	210	0	0.00	0	0	T	NM_001520	0	0		27523094	-1	no_errors	ENST00000356183	ensembl	human	known	74_37	missense	50	122	20.63	13.48	13	19	SNP	1	C	C	27523094	T	C	27523094	3	2	68	1	0	0	0	0	1	0	0	0	6872	1406	49	3	5351	3	GTF3C1	16	27523094	Missense_Mutation	SNP	T	TCGA-XU-A92R-01A-11D-A423-09		27523094	62831659	17	801											
DNAH9	1770	genome.wustl.edu	37	chr17	11700946	11700946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgtggagcagacccaaagCccgaacctgtattgtcactt	10	9	9	13	1	1	1	1	0	0	1	1	3	1	2	4	1	3	2	4	1	3	3			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr17:11700946C>A	ENST00000262442.4	+	43	8324	c.8256C>A	c.(8254-8256)agC>agA	p.S2752R	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2752R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2752					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)		AGACCCAAAGCCCGAACCTGT	0.507																																							0											0													110	94	99					17																	11700946		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8256C>A	17.37:g.11700946C>A	ENSP00000262442:p.Ser2752Arg		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.S2752R	ENST00000262442.4	37	c.8256	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.569183	0.00895	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.25414	1.84;1.8	5.44	-0.754	0.11065	.	0.829834	0.10187	N	0.705166	T	0.05410	0.0143	N	0.00648	-1.295	0.25523	N	0.987341	B	0.02656	0.0	B	0.04013	0.001	T	0.40327	-0.9569	10	0.12766	T	0.61	.	2.2708	0.04090	0.2032:0.3713:0.2754:0.1501	.	2752	Q9NYC9	DYH9_HUMAN	R	2752;2752;1334	ENSP00000262442:S2752R;ENSP00000414874:S2752R	ENSP00000262442:S2752R	S	+	3	2	DNAH9	11641671	0.971000	0.33674	0.050000	0.19076	0.001000	0.01503	0.949000	0.29109	0.240000	0.21263	-0.145000	0.13849	AGC	0	NULL		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	66	285	0	0.00	0	0	C	NM_001372	0	0		11700946	1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	67	195	11.84	10.14	9	22	SNP	0.065	A	A	11700946	C	A	11700946	3	1	68	1	0	0	0	0	1	0	0	0	4608	738	26	5	8426	5	DNAH9	17	11700946	Missense_Mutation	SNP	C	TCGA-XU-A92R-01A-11D-A423-09		11700946	69494264	18	802											
TMEM146	257062	genome.wustl.edu	37	chr19	5772832	5772832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttccaggaggtcatcgaCgccgagtatgtgttactgga	9	11	13	8	3	1	0	1	0	0	0	3	4	2	2	2	3	1	3	2	3	2	3			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr19:5772832C>T	ENST00000381624.3	+	20	1858	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	599					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)											AGGTCATCGACGCCGAGTATG	0.607																																							0											0													88	93	92					19																	5772832		2112	4224	6336	SO:0001819	synonymous_variant	0			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.1797C>T	19.37:g.5772832C>T			Q6ZRP1	Silent	SNP	superfamily_WD40_repeat_dom	p.D599	ENST00000381624.3	37	c.1797	CCDS12149.2	19																																																																																			0	NULL		0.607	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	protein_coding	OTTHUMT00000286953.2	99	157	0	0.00	0	0	C	NM_152784	0	0		5772832	1	no_errors	ENST00000381624	ensembl	human	known	74_37	silent	72	148	11.11	13.95	9	24	SNP	0	T	T	5772832	C	T	5772832	2	4	68	1	0	0	0	0	0	0	0	1	16057	535	19	1		1	TMEM146	19	5772832	Silent	SNP	C	TCGA-XU-A92R-01A-11D-A423-09		5772832	53356151	19	803											
NPHS1	4868	genome.wustl.edu	37	chr19	36332649	36332649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgaatgttggtttggtccGagccaagggcgttggtggct	5	13	17	6	2	0	1	0	1	0	0	1	2	1	1	2	5	1	5	2	5	2	4	rs386833926		TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr19:36332649G>A	ENST00000378910.5	-	20	2782	c.2783C>T	c.(2782-2784)tCg>tTg	p.S928L	NPHS1_ENST00000353632.6_Missense_Mutation_p.S928L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	928	Ig-like C2-type 8.				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.S928*(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)			GGTTTGGTCCGAGCCAAGGGC	0.587																																							0											1	Substitution - Nonsense(1)	large_intestine(1)						G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	195	145	162		2783	5.4	1	19		162	0,8600		0,0,4300	no	missense	NPHS1	NM_004646.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	928/1242	36332649	1,13005	2203	4300	6503	SO:0001583	missense	0				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.2783C>T	19.37:g.36332649G>A	ENSP00000368190:p.Ser928Leu		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.S928L	ENST00000378910.5	37	c.2783	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701141	0.48307	2.27E-4	0.0	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.68765	-0.35;-0.35	5.4	5.4	0.78164	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.283025	0.33813	N	0.004532	T	0.56001	0.1956	L	0.41710	1.295	0.25709	N	0.985505	P	0.45348	0.856	B	0.39706	0.307	T	0.59878	-0.7371	10	0.66056	D	0.02	-11.2146	10.2195	0.43188	0.0898:0.0:0.9102:0.0	.	928	O60500	NPHN_HUMAN	L	928	ENSP00000368190:S928L;ENSP00000343634:S928L	ENSP00000343634:S928L	S	-	2	0	NPHS1	41024489	0.891000	0.30450	0.984000	0.44739	0.764000	0.43329	2.019000	0.41001	2.567000	0.86603	0.558000	0.71614	TCG	0	pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	protein_coding	OTTHUMT00000452553.1	39	236	0	0.00	0	0	G		0	0		36332649	-1	no_errors	ENST00000378910	ensembl	human	known	74_37	missense	64	166	8.57	10.75	6	20	SNP	0.897	A	A	36332649	G	A	36332649	3	1	68	1	0	0	0	0	1	0	0	0	10582	1059	37	2	982	2	NPHS1	19	36332649	Missense_Mutation	SNP	G	TCGA-XU-A92R-01A-11D-A423-09	30559817	36332649	22796334	20	804											
C20orf118	140711	genome.wustl.edu	37	chr20	35507540	35507540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagagcctgtaccggCggatggagggctgcagcggg	6	5	19	11	3	0	1	0	0	0	1	0	3	0	3	3	5	5	4	3	5	1	1	rs147062113	byFrequency	TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr20:35507540C>T	ENST00000217320.3	+	3	330	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TLDC2_ENST00000602922.1_Missense_Mutation_p.R96W	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	96	TLD.																CCTGTACCGGCGGATGGAGGG	0.667													C|||	2	0.000399361	0	0	5008	,	,		17168	0		0	False		,,,				2504	0.002						0.9996,.,0.0003994											0													58	49	52					20																	35507540		2203	4300	6503	SO:0001583	missense	0			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.286C>T	20.37:g.35507540C>T	ENSP00000217320:p.Arg96Trp		B3KVU8	Missense_Mutation	SNP	pfam_TLDc,smart_TLDc	p.R96W	ENST00000217320.3	37	c.286	CCDS33465.1	20	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714526	0.68730	.	.	ENSG00000101342	ENST00000217320	T	0.46451	0.87	5.09	3.04	0.35103	TLDc (2);	0.434950	0.25161	N	0.032667	T	0.54679	0.1873	M	0.77103	2.36	0.28525	N	0.912867	D	0.67145	0.996	P	0.55303	0.773	T	0.54563	-0.8275	10	0.87932	D	0	-18.2428	9.9222	0.41470	0.396:0.604:0.0:0.0	.	96	A0PJX2	CT118_HUMAN	W	96	ENSP00000217320:R96W	ENSP00000217320:R96W	R	+	1	2	C20orf118	34940954	0.992000	0.36948	1.000000	0.80357	0.929000	0.56500	0.706000	0.25690	1.403000	0.46800	-0.122000	0.15005	CGG	0	pfam_TLDc,smart_TLDc		0.667	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TLDC2	protein_coding	OTTHUMT00000079060.2	43	60	0	0.00	0	0	C	NM_080628	rs147062113	C->A,T		35507540	1	no_errors	ENST00000217320	ensembl	human	known	74_37	missense	49	56	10.91	9.68	6	6	SNP	1	T	T	35507540	C	T	35507540	3	4	68	1	0	0	0	0	1	0	0	0	2084	759	27	1	296	1	C20orf118	20	35507540	Missense_Mutation	SNP	C	TCGA-XU-A92R-01A-11D-A423-09		35507540	27517980	21	805											
APOL5	80831	genome.wustl.edu	37	chr22	36122858	36122858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttcatgcctaccagaTggccaaatccaactctggct	10	10	8	13	0	3	1	1	0	2	1	4	2	4	2	4	3	3	1	4	3	3	2			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chr22:36122858T>C	ENST00000249044.2	+	3	743	c.743T>C	c.(742-744)aTg>aCg	p.M248T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	248					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						GCCTACCAGATGGCCAAATCC	0.473																																							0											0													154	161	159					22																	36122858		2203	4300	6503	SO:0001583	missense	0			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.743T>C	22.37:g.36122858T>C	ENSP00000249044:p.Met248Thr		Q5TFL9|Q9UGW5	Missense_Mutation	SNP	pfam_ApoL	p.M248T	ENST00000249044.2	37	c.743	CCDS13920.1	22	.	.	.	.	.	.	.	.	.	.	T	5.172	0.217330	0.09810	.	.	ENSG00000128313	ENST00000249044	T	0.03301	3.98	3.43	-0.124	0.13523	.	1.238710	0.06279	U	0.697028	T	0.02083	0.0065	N	0.11064	0.09	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.49072	-0.8977	10	0.20046	T	0.44	.	3.9521	0.09374	0.0:0.1915:0.1844:0.6241	.	248	Q9BWW9	APOL5_HUMAN	T	248	ENSP00000249044:M248T	ENSP00000249044:M248T	M	+	2	0	APOL5	34452804	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.336000	0.07863	-0.487000	0.06735	0.496000	0.49642	ATG	0	pfam_ApoL		0.473	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	protein_coding	OTTHUMT00000318979.1	34	240	0	0.00	0	0	T	NM_030642	0	0		36122858	1	no_errors	ENST00000249044	ensembl	human	known	74_37	missense	38	219	7.32	5.60	3	13	SNP	0.002	C	C	36122858	T	C	36122858	3	2	68	1	0	0	0	0	1	0	0	0	809	1464	51	3	753	3	APOL5	22	36122858	Missense_Mutation	SNP	T	TCGA-XU-A92R-01A-11D-A423-09		36122858	15181708	22	806											
CENPI	2491	genome.wustl.edu	37	chrX	100387419	100387419	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaccatctagcgcagctcTtctttacatcaaccatttat	10	15	4	12	1	4	1	1	1	3	0	4	1	4	1	2	0	4	2	2	0	4	7			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chrX:100387419T>G	ENST00000372927.1	+	14	1721	c.1444T>G	c.(1444-1446)Ttc>Gtc	p.F482V	CENPI_ENST00000423383.1_Missense_Mutation_p.F482V|CENPI_ENST00000372926.1_Missense_Mutation_p.F482V|CENPI_ENST00000218507.5_Missense_Mutation_p.F482V	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	482					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGCGCAGCTCTTCTTTACATC	0.328																																							0											0													107	97	100					X																	100387419		2202	4300	6502	SO:0001583	missense	0			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1444T>G	X.37:g.100387419T>G	ENSP00000362018:p.Phe482Val		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	pfam_CENP-I	p.F482V	ENST00000372927.1	37	c.1444	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	t	19.93	3.917622	0.73098	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.32	5.32	0.75619	.	0.046040	0.85682	D	0.000000	T	0.78960	0.4366	M	0.77103	2.36	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.81906	-0.0718	9	0.72032	D	0.01	-11.7945	14.3205	0.66484	0.0:0.0:0.0:1.0	.	482;482	B4DZL4;Q92674	.;CENPI_HUMAN	V	482	.	ENSP00000218507:F482V	F	+	1	0	CENPI	100274075	1.000000	0.71417	0.989000	0.46669	0.933000	0.57130	6.431000	0.73395	1.760000	0.52011	0.412000	0.27726	TTC	0	pfam_CENP-I		0.328	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	protein_coding	OTTHUMT00000057519.1	45	393	0	0.00	0	0	T	NM_006733	0	0		100387419	1	no_errors	ENST00000372927	ensembl	human	known	74_37	missense	61	275	10.29	11.58	7	36	SNP	1	G	G	100387419	T	G	100387419	3	3	68	1	0	0	0	0	1	0	0	0	3233	1609	56	5	1494	5	CENPI	23	100387419	Missense_Mutation	SNP	T	TCGA-XU-A92R-01A-11D-A423-09		100387419	54883141	23	807											
NAA10	8260	genome.wustl.edu	37	chrX	153199411	153199411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcacattttggccaggacaTaccccacaatcttcccattc	10	11	4	16	0	2	0	1	0	1	0	4	1	3	1	4	2	1	0	4	2	2	5			TCGA-XU-A92R-01A-11D-A423-09	TCGA-XU-A92R-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	465f7775-14ff-4b3d-9902-19d99c3b6305	e536e2ef-56dc-46e5-b544-172c23e92c33	g.chrX:153199411T>C	ENST00000464845.1	-	3	482	c.164A>G	c.(163-165)tAt>tGt	p.Y55C	NAA10_ENST00000393712.3_Missense_Mutation_p.Y55C|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000370015.4_Missense_Mutation_p.Y55C|NAA10_ENST00000370009.1_Missense_Mutation_p.Y55C	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	55	Interaction with NAA15.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GGCCAGGACATACCCCACAAT	0.463																																					Ovarian(94;1099 1433 38814 45882 51063)		0											0													209	181	190					X																	153199411		2203	4300	6503	SO:0001583	missense	0			BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"N(alpha)-acetyltransferase subunits"	18704	protein-coding gene	gene with protein product		300013	"ARD1 homolog, N-acetyltransferase (S. cerevisiae)", "ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.164A>G	X.37:g.153199411T>C	ENSP00000417763:p.Tyr55Cys		A6NM98	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.Y55C	ENST00000464845.1	37	c.164	CCDS14737.1	X	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947824	0.73787	.	.	ENSG00000102030	ENST00000464845;ENST00000370015;ENST00000393712;ENST00000370009;ENST00000545734	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	4.61	4.61	0.57282	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.64402	U	0.000001	T	0.79370	0.4434	H	0.95645	3.7	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	0.84888	0.0835	10	0.87932	D	0	-32.6869	12.1918	0.54275	0.0:0.0:0.0:1.0	.	55;55;55	B7Z9N2;A6NM98;P41227	.;.;NAA10_HUMAN	C	55	ENSP00000417763:Y55C;ENSP00000359032:Y55C;ENSP00000377315:Y55C;ENSP00000359026:Y55C	ENSP00000359026:Y55C	Y	-	2	0	NAA10	152852605	1.000000	0.71417	0.553000	0.28255	0.993000	0.82548	7.568000	0.82369	1.510000	0.48803	0.486000	0.48141	TAT	0	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.463	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA10	protein_coding	OTTHUMT00000061108.2	45	216	0	0.00	0	0	T	NM_003491	0	0		153199411	-1	no_errors	ENST00000464845	ensembl	human	known	74_37	missense	37	164	13.64	12.70	6	24	SNP	0.998	C	C	153199411	T	C	153199411	3	2	68	1	0	0	0	0	1	0	0	0	10116	1406	49	3	567	3	NAA10	23	153199411	Missense_Mutation	SNP	T	TCGA-XU-A92R-01A-11D-A423-09	52811992	153199411	2071149	24	808											
HES3	390992	genome.wustl.edu	37	chr1	6305563	6305563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagccccggggatgacctgaActgaaggcgctccctatttg	9	8	12	12	2	0	3	0	3	0	0	1	4	1	4	4	3	2	1	4	3	4	2			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr1:6305563A>G	ENST00000377898.3	+	4	622	c.557A>G	c.(556-558)aAc>aGc	p.N186S		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	186					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)		GATGACCTGAACTGAAGGCGC	0.692																																							0											0													10	13	12					1																	6305563		1737	3854	5591	SO:0001583	missense	0				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.557A>G	1.37:g.6305563A>G	ENSP00000367130:p.Asn186Ser		Q5TGS0	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N186S	ENST00000377898.3	37	c.557	CCDS41238.1	1	.	.	.	.	.	.	.	.	.	.	A	7.934	0.741342	0.15642	.	.	ENSG00000173673	ENST00000377898	T	0.29917	1.55	2.9	1.77	0.24775	.	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.20338	-1.0278	9	0.87932	D	0	.	4.1888	0.10411	0.8245:0.0:0.1755:0.0	.	186	Q5TGS1	HES3_HUMAN	S	186	ENSP00000367130:N186S	ENSP00000367130:N186S	N	+	2	0	HES3	6228150	0.003000	0.15002	0.000000	0.03702	0.072000	0.16883	1.345000	0.33953	0.537000	0.28751	0.240000	0.17902	AAC	0	NULL		0.692	HES3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HES3	protein_coding	OTTHUMT00000003716.3	65	97	0	0.00	0	0	A	NM_001024598	0	0		6305563	1	no_errors	ENST00000377898	ensembl	human	known	74_37	missense	42	67	35.38	33.66	23	34	SNP	0	G	G	6305563	A	G	6305563	3	3	69	1	0	0	0	0	1	0	0	0	7067	43	2	3	567	3	HES3	1	6305563	Missense_Mutation	SNP	A	TCGA-XU-A92T-01A-11D-A423-09		6305563	242945058	1	809											
LDLRAP1	26119	genome.wustl.edu	37	chr1	25881384	25881384	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaagctgcagaaggtgActctgaaggtgtcgccacgg	11	6	16	8	2	1	4	0	2	1	2	2	5	1	5	1	4	2	2	1	4	4	0			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr1:25881384A>T	ENST00000374338.4	+	3	384	c.265A>T	c.(265-267)Act>Tct	p.T89S	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	89	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)		GCAGAAGGTGACTCTGAAGGT	0.552																																							0											0													92	79	84					1																	25881384		2203	4300	6503	SO:0001583	missense	0			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.265A>T	1.37:g.25881384A>T	ENSP00000363458:p.Thr89Ser		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.T89S	ENST00000374338.4	37	c.265	CCDS30639.1	1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545357	0.45280	.	.	ENSG00000157978	ENST00000374338	T	0.19105	2.17	4.93	3.8	0.43715	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.251798	0.45867	D	0.000327	T	0.17280	0.0415	L	0.43152	1.355	0.34954	D	0.751494	B	0.25105	0.118	B	0.30105	0.111	T	0.17137	-1.0379	10	0.13470	T	0.59	-9.3935	9.7768	0.40623	0.9179:0.0:0.082:0.0	.	89	Q5SW96	ARH_HUMAN	S	89	ENSP00000363458:T89S	ENSP00000363458:T89S	T	+	1	0	LDLRAP1	25753971	0.415000	0.25416	0.999000	0.59377	0.949000	0.60115	2.259000	0.43259	0.847000	0.35167	0.260000	0.18958	ACT	0	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.552	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	protein_coding	OTTHUMT00000019350.3	48	115	0	0.00	0	0	A	NM_015627	0	0		25881384	1	no_errors	ENST00000374338	ensembl	human	known	74_37	missense	18	50	48.57	40.48	17	34	SNP	1	T	T	25881384	A	T	25881384	3	4	69	1	0	0	0	0	1	0	0	0	8708	275	10	5	275	5	LDLRAP1	1	25881384	Missense_Mutation	SNP	A	TCGA-XU-A92T-01A-11D-A423-09	19575821	25881384	223369237	2	810											
FGGY	55277	genome.wustl.edu	37	chr1	59787274	59787274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatgtgggtgtggacgttgGaacaggcagtgtccgtgcag	7	10	17	7	2	0	0	0	0	0	0	1	2	1	2	1	4	2	3	1	4	2	2			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr1:59787274G>T	ENST00000303721.7	+	2	227	c.53G>T	c.(52-54)gGa>gTa	p.G18V	FGGY_ENST00000371212.1_Missense_Mutation_p.G18V|FGGY_ENST00000371218.4_Missense_Mutation_p.G18V|FGGY_ENST00000474476.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	18					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GTGGACGTTGGAACAGGCAGT	0.502																																							0											0													88	83	84					1																	59787274		1568	3582	5150	SO:0001583	missense	0				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.53G>T	1.37:g.59787274G>T	ENSP00000305922:p.Gly18Val		B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	p.G18V	ENST00000303721.7	37	c.53	CCDS611.2	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731496	0.89390	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721;ENST00000371212	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.2	5.2	0.72013	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97300	0.9117	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	0.97110	1.0;1.0;1.0;1.0	D	0.98459	1.0595	9	.	.	.	-11.7957	18.9316	0.92568	0.0:0.0:1.0:0.0	.	18;18;18;18	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	V	18	ENSP00000406607:G18V;ENSP00000360262:G18V;ENSP00000305922:G18V;ENSP00000360256:G18V	.	G	+	2	0	FGGY	59559862	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	8.748000	0.91615	2.691000	0.91804	0.655000	0.94253	GGA	0	pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel		0.502	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGGY	protein_coding	OTTHUMT00000023210.2	45	130	0	0.00	0	0	G	NM_001113411	0	0		59787274	1	no_errors	ENST00000303721	ensembl	human	known	74_37	missense	39	113	46.58	35.43	34	62	SNP	1	T	T	59787274	G	T	59787274	3	4	69	1	0	0	0	0	1	0	0	0	5871	1174	41	5	55	5	FGGY	1	59787274	Missense_Mutation	SNP	G	TCGA-XU-A92T-01A-11D-A423-09	33905890	59787274	189463347	3	811											
OVGP1	5016	genome.wustl.edu	37	chr1	111968033	111968033	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaagttccacccgccgaTggacagtagtgttttcagct	9	10	10	12	2	1	0	1	0	0	0	2	2	2	1	4	1	1	4	4	1	2	4			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr1:111968033T>A	ENST00000369732.3	-	4	344	c.289A>T	c.(289-291)Atc>Ttc	p.I97F	OVGP1_ENST00000540696.1_Missense_Mutation_p.I37F|OVGP1_ENST00000481495.1_5'Flank	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	97					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)			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)		CACCCGCCGATGGACAGTAGT	0.532																																							0											0													133	106	115					1																	111968033		2203	4300	6503	SO:0001583	missense	0			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.289A>T	1.37:g.111968033T>A	ENSP00000358747:p.Ile97Phe		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.I97F	ENST00000369732.3	37	c.289	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.844844	0.51164	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.10573	2.86;3.26	4.34	0.266	0.15617	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.110343	0.64402	D	0.000008	T	0.14313	0.0346	M	0.74881	2.28	0.43708	D	0.996173	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.75484	0.986;0.986;0.955	T	0.03433	-1.1037	10	0.87932	D	0	-14.161	4.1112	0.10060	0.0:0.3433:0.1867:0.47	.	97;97;161	B2RA77;Q12889;Q59HH5	.;OVGP1_HUMAN;.	F	97;161;37	ENSP00000358747:I97F;ENSP00000438449:I37F	ENSP00000358743:I161F	I	-	1	0	OVGP1	111769556	0.999000	0.42202	0.733000	0.30861	0.471000	0.32888	0.793000	0.26944	-0.017000	0.14103	0.397000	0.26171	ATC	0	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.532	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	protein_coding	OTTHUMT00000032461.1	60	191	0	0.52	0	1	T	NM_002557	0	0		111968033	-1	no_errors	ENST00000369732	ensembl	human	known	74_37	missense	27	95	42.55	43.79	20	74	SNP	0.997	A	A	111968033	T	A	111968033	3	1	69	1	0	0	0	0	1	0	0	0	11325	1464	51	5	1779	5	OVGP1	1	111968033	Missense_Mutation	SNP	T	TCGA-XU-A92T-01A-11D-A423-09	52180759	111968033	137282588	4	812											
RPRD2	23248	genome.wustl.edu	37	chr1	150445793	150445793	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaccaaaacgcccattcTtccctcccaggtactgatgg	9	10	7	15	1	1	1	0	1	1	0	3	1	3	1	4	2	3	2	4	2	3	4			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr1:150445793T>G	ENST00000369068.4	+	11	4373	c.4369T>G	c.(4369-4371)Ttc>Gtc	p.F1457V	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.F1431V	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1457	Pro-rich.					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						ACGCCCATTCTTCCCTCCCAG	0.448																																							0											0													58	53	55					1																	150445793		1858	4094	5952	SO:0001583	missense	0			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.4369T>G	1.37:g.150445793T>G	ENSP00000358064:p.Phe1457Val		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom	p.F1457V	ENST00000369068.4	37	c.4369	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.844827	0.51164	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.53423	0.62;0.62	4.94	4.94	0.65067	.	0.132972	0.52532	D	0.000069	T	0.25568	0.0622	N	0.19112	0.55	0.80722	D	1	P;P	0.41450	0.634;0.75	B;B	0.41917	0.204;0.37	T	0.24764	-1.0151	10	0.87932	D	0	-11.0231	14.7672	0.69648	0.0:0.0:0.0:1.0	.	1457;1431	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	V	1431;1457	ENSP00000383785:F1431V;ENSP00000358064:F1457V	ENSP00000358064:F1457V	F	+	1	0	RPRD2	148712417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.202000	0.58446	2.054000	0.61138	0.533000	0.62120	TTC	0	NULL		0.448	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	protein_coding	OTTHUMT00000035844.1	41	235	0	0.00	0	0	T	NM_015203	0	0		150445793	1	no_errors	ENST00000369068	ensembl	human	known	74_37	missense	21	128	41.67	37.56	15	77	SNP	1	G	G	150445793	T	G	150445793	3	3	69	1	0	0	0	0	1	0	0	0	13617	1609	56	5	4411	5	RPRD2	1	150445793	Missense_Mutation	SNP	T	TCGA-XU-A92T-01A-11D-A423-09	38477760	150445793	98804828	5	813											
MYO7B	4648	genome.wustl.edu	37	chr2	128384562	128384562	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctcaggccccatacactCagaagcaagtcacaccactg	12	5	6	18	0	3	1	3	0	0	1	3	1	3	1	5	1	2	1	5	1	3	1			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr2:128384562C>T	ENST00000409816.2	+	30	4182	c.4150C>T	c.(4150-4152)Cag>Tag	p.Q1384*	MYO7B_ENST00000428314.1_Nonsense_Mutation_p.Q1384*|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000389524.4_Nonsense_Mutation_p.Q1384*|MYO7B_ENST00000409090.1_Nonsense_Mutation_p.Q237*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1384	FERM 1. {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)		CCCATACACTCAGAAGCAAGT	0.597																																							0											0													27	30	29					2																	128384562		2009	4175	6184	SO:0001587	stop_gained	0				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.4150C>T	2.37:g.128384562C>T	ENSP00000386461:p.Gln1384*		Q14786|Q8TEE1	Nonsense_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.Q1384*	ENST00000409816.2	37	c.4150	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	c	37	6.173106	0.97348	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	.	.	.	4.71	2.86	0.33363	.	0.282821	0.37304	N	0.002148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5321	0.39200	0.2867:0.5747:0.1385:0.0	.	.	.	.	X	1384;1384;237;1384;237	.	ENSP00000272666:Q237X	Q	+	1	0	MYO7B	128101032	0.939000	0.31865	0.899000	0.35326	0.014000	0.08584	1.859000	0.39418	0.595000	0.29777	-0.258000	0.10820	CAG	0	smart_Band_41_domain,pfscan_FERM_domain		0.597	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	protein_coding	OTTHUMT00000331124.3	56	109	1.75	0.00	1	0	C	XM_291001	0	0		128384562	1	no_errors	ENST00000389524	ensembl	human	known	74_37	nonsense	21	53	45	49.52	18	52	SNP	0.24	T	T	128384562	C	T	128384562	4	4	69	1	0	0	0	0	0	1	0	0	10083	827	29	3	4268	3	MYO7B	2	128384562	Nonsense_Mutation	SNP	C	TCGA-XU-A92T-01A-11D-A423-09		128384562	114814811	6	814											
SLMAP	7871	genome.wustl.edu	37	chr3	57843842	57843842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgaagatagactcttaTcacggttagaagttatggga	14	12	11	4	1	2	5	1	1	1	4	2	6	2	6	0	2	0	2	0	2	7	5			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr3:57843842T>C	ENST00000428312.1	+	7	737	c.643T>C	c.(643-645)Tca>Cca	p.S215P	SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.S215P|SLMAP_ENST00000295951.3_Missense_Mutation_p.S215P|SLMAP_ENST00000449503.2_Missense_Mutation_p.S215P|SLMAP_ENST00000383718.3_Missense_Mutation_p.S215P			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	215					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)		TAGACTCTTATCACGGTTAGA	0.299																																							0											0													112	119	117					3																	57843842		2203	4297	6500	SO:0001583	missense	0			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.643T>C	3.37:g.57843842T>C	ENSP00000398661:p.Ser215Pro		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.S215P	ENST00000428312.1	37	c.643		3	.	.	.	.	.	.	.	.	.	.	T	27.0	4.795629	0.90453	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.71517	0.3349	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.991;0.958;0.994;0.974	T	0.73338	-0.4014	10	0.62326	D	0.03	-6.1962	16.6512	0.85203	0.0:0.0:0.0:1.0	.	215;215;215;215	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	P	215	ENSP00000295951:S215P;ENSP00000295952:S215P;ENSP00000373224:S215P;ENSP00000398661:S215P;ENSP00000412945:S215P	ENSP00000295951:S215P	S	+	1	0	SLMAP	57818882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.141000	0.77330	2.333000	0.79357	0.482000	0.46254	TCA	0	NULL		0.299	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	protein_coding	OTTHUMT00000351584.1	23	175	0	0.00	0	0	T	NM_007159	0	0		57843842	1	no_errors	ENST00000428312	ensembl	human	known	74_37	missense	32	157	44.83	41.42	26	111	SNP	1	C	C	57843842	T	C	57843842	3	2	69	1	0	0	0	0	1	0	0	0	14749	1435	50	3	669	3	SLMAP	3	57843842	Missense_Mutation	SNP	T	TCGA-XU-A92T-01A-11D-A423-09		57843842	140178588	7	815											
C3orf72	401089	genome.wustl.edu	37	chr3	138668430	138668430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagggctggaatcggtctcCccaagatgtgccttcacatg	9	9	12	11	1	2	1	1	0	1	1	4	3	2	2	3	3	1	1	3	3	3	1			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr3:138668430C>T	ENST00000383165.3	+	2	300	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	FOXL2_ENST00000330315.3_5'Flank	NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		57										large_intestine(1)|lung(3)	4						AATCGGTCTCCCCAAGATGTG	0.542																																							0											0													75	79	78					3																	138668430		1946	4153	6099	SO:0001583	missense	0																														ENST00000383165.3:c.169C>T	3.37:g.138668430C>T	ENSP00000372651:p.Pro57Ser		A6NGX0	Missense_Mutation	SNP	NULL	p.P57S	ENST00000383165.3	37	c.169	CCDS43155.1	3	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537822	0.27475	.	.	ENSG00000206262	ENST00000383165	.	.	.	2.36	0.483	0.16820	.	.	.	.	.	T	0.34832	0.0911	N	0.14661	0.345	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.15407	-1.0438	8	0.87932	D	0	.	4.4152	0.11452	0.0:0.6527:0.0:0.3473	.	57	Q6ZUU3	CC072_HUMAN	S	57	.	ENSP00000372651:P57S	P	+	1	0	C3orf72	140151120	0.000000	0.05858	0.015000	0.15790	0.132000	0.20833	-0.496000	0.06436	0.091000	0.17302	0.555000	0.69702	CCC	0	NULL		0.542	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf72	protein_coding	OTTHUMT00000357986.1	30	101	0	0.00	0	0	C		0	0		138668430	1	no_errors	ENST00000383165	ensembl	human	known	74_37	missense	27	69	46	44.80	23	56	SNP	0.017	T	T	138668430	C	T	138668430	3	4	69	1	0	0	0	0	1	0	0	0	2244	623	22	3	175	3	C3orf72	3	138668430	Missense_Mutation	SNP	C	TCGA-XU-A92T-01A-11D-A423-09	80824588	138668430	59354000	8	816											
ENAM	10117	genome.wustl.edu	37	chr4	71508185	71508185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggcacagacagaataggCctttttacagaaatcaacaa	16	8	9	8	0	1	3	1	0	0	3	1	3	1	3	1	3	2	1	1	3	6	4			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr4:71508185C>A	ENST00000396073.3	+	9	1323	c.1042C>A	c.(1042-1044)Cct>Act	p.P348T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	348					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)			ACAGAATAGGCCTTTTTACAG	0.398																																							0											0													100	103	102					4																	71508185		2203	4300	6503	SO:0001583	missense	0			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.1042C>A	4.37:g.71508185C>A	ENSP00000379383:p.Pro348Thr		Q17RI5|Q9H3D1	Missense_Mutation	SNP	NULL	p.P348T	ENST00000396073.3	37	c.1042	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562823	0.27915	.	.	ENSG00000132464	ENST00000396073	T	0.47177	0.85	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000020	T	0.60025	0.2237	M	0.86028	2.79	0.39215	D	0.963399	B	0.30824	0.296	B	0.38428	0.273	T	0.65245	-0.6215	10	0.62326	D	0.03	-11.8947	15.6185	0.76787	0.0:1.0:0.0:0.0	.	348	Q9NRM1	ENAM_HUMAN	T	348	ENSP00000379383:P348T	ENSP00000379383:P348T	P	+	1	0	ENAM	71727049	0.929000	0.31497	0.891000	0.34965	0.018000	0.09664	2.493000	0.45320	2.769000	0.95229	0.655000	0.94253	CCT	0	NULL		0.398	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	protein_coding	OTTHUMT00000252166.3	39	173	0	0.57	0	1	C	NM_031889	0	0		71508185	1	no_errors	ENST00000396073	ensembl	human	known	74_37	missense	33	112	31.25	46.41	15	97	SNP	0.835	A	A	71508185	C	A	71508185	3	1	69	1	0	0	0	0	1	0	0	0	5112	739	26	5	1072	5	ENAM	4	71508185	Missense_Mutation	SNP	C	TCGA-XU-A92T-01A-11D-A423-09		71508185	119646091	9	817											
LIFR	3977	genome.wustl.edu	37	chr5	38528850	38528850	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttcaatgcaaacttcatAatcagtaccacggcctgttc	11	13	6	11	1	3	0	3	0	0	0	4	0	3	0	2	1	3	4	2	1	4	6			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr5:38528850A>T	ENST00000263409.4	-	3	397	c.235T>A	c.(235-237)Tat>Aat	p.Y79N	LIFR_ENST00000453190.2_Missense_Mutation_p.Y79N|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	79	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)					CAAACTTCATAATCAGTACCA	0.403			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)		0		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													64	59	61					5																	38528850		2203	4298	6501	SO:0001583	missense	0			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.235T>A	5.37:g.38528850A>T	ENSP00000263409:p.Tyr79Asn		Q6LCD9	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Y79N	ENST00000263409.4	37	c.235	CCDS3927.1	5	.	.	.	.	.	.	.	.	.	.	A	12.37	1.918763	0.33908	.	.	ENSG00000113594	ENST00000263409;ENST00000453190;ENST00000506990	T;T;T	0.69685	-0.42;-0.42;0.51	6.08	3.65	0.41850	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.420960	0.04203	N	0.330339	T	0.64125	0.2570	M	0.62723	1.935	0.32101	N	0.59058	P	0.38473	0.633	B	0.36504	0.226	T	0.54390	-0.8301	10	0.31617	T	0.26	-9.4646	6.4898	0.22109	0.6837:0.1563:0.0:0.16	.	79	P42702	LIFR_HUMAN	N	79	ENSP00000263409:Y79N;ENSP00000398368:Y79N;ENSP00000426685:Y79N	ENSP00000263409:Y79N	Y	-	1	0	LIFR	38564607	0.989000	0.36119	0.173000	0.22940	0.181000	0.23173	3.047000	0.49854	0.506000	0.28125	0.533000	0.62120	TAT	0	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.403	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	protein_coding	OTTHUMT00000253823.1	35	185	0	0.00	0	0	A	NM_002310	0	0		38528850	-1	no_errors	ENST00000263409	ensembl	human	known	74_37	missense	26	129	49.02	47.13	25	115	SNP	0.804	T	T	38528850	A	T	38528850	3	4	69	1	0	0	0	0	1	0	0	0	8780	362	13	5	3130	5	LIFR	5	38528850	Missense_Mutation	SNP	A	TCGA-XU-A92T-01A-11D-A423-09		38528850	142386410	10	818											
FKBPL	63943	genome.wustl.edu	37	chr6	32096724	32096724	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccaggctcccgctccaaCacccggtcacagctctgggc	6	6	11	18	2	2	0	1	0	1	0	4	0	4	0	4	4	2	3	4	4	1	0			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr6:32096724C>T	ENST00000375156.3	-	2	1104	c.834G>A	c.(832-834)gtG>gtA	p.V278V	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	278					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										CCCGCTCCAACACCCGGTCAC	0.587																																							0											0													55	60	58					6																	32096724		2203	4300	6503	SO:0001819	synonymous_variant	0			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.834G>A	6.37:g.32096724C>T			A8K5V3|B0UYX8|Q9H5G3	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V278	ENST00000375156.3	37	c.834	CCDS4738.1	6																																																																																			0	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom		0.587	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBPL	protein_coding	OTTHUMT00000076221.2	27	125	0	0.00	0	0	C		0	0		32096724	-1	no_errors	ENST00000375156	ensembl	human	known	74_37	silent	22	54	45	54.24	18	64	SNP	0.939	T	T	32096724	C	T	32096724	2	4	69	1	0	0	0	0	0	0	0	1	5916	465	17	3		3	FKBPL	6	32096724	Silent	SNP	C	TCGA-XU-A92T-01A-11D-A423-09		32096724	139018343	11	819											
DNAH8	1769	genome.wustl.edu	37	chr6	38851748	38851748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttattgatgatattaatatgCctgtgattaatgagtgggga	12	16	11	2	0	0	4	0	4	0	0	0	5	0	5	1	2	1	0	1	2	5	6			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr6:38851748C>T	ENST00000359357.3	+	54	7836	c.7582C>T	c.(7582-7584)Cct>Tct	p.P2528S	DNAH8_ENST00000449981.2_Missense_Mutation_p.P2745S|DNAH8_ENST00000441566.1_Missense_Mutation_p.P2492S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2528	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						TATTAATATGCCTGTGATTAA	0.333																																							0											0													97	101	100					6																	38851748		2203	4300	6503	SO:0001583	missense	0			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.7582C>T	6.37:g.38851748C>T	ENSP00000352312:p.Pro2528Ser		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.P2528S	ENST00000359357.3	37	c.7582		6	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768267	0.90020	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.63417	-0.04;-0.04;-0.04	4.86	4.86	0.63082	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.86439	0.5933	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91983	0.5596	10	0.87932	D	0	.	18.3394	0.90300	0.0:1.0:0.0:0.0	.	2528	Q96JB1	DYH8_HUMAN	S	2733;2733;2528;2492	ENSP00000333363:P2733S;ENSP00000352312:P2528S;ENSP00000402294:P2492S	ENSP00000333363:P2733S	P	+	1	0	DNAH8	38959726	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.047000	0.71038	2.399000	0.81585	0.555000	0.69702	CCT	0	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	96	173	0	0.57	0	1	C	NM_001206927	0	0		38851748	1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	68	122	35.85	39.90	38	81	SNP	1	T	T	38851748	C	T	38851748	3	4	69	1	0	0	0	0	1	0	0	0	4607	739	26	3	7788	3	DNAH8	6	38851748	Missense_Mutation	SNP	C	TCGA-XU-A92T-01A-11D-A423-09	6755024	38851748	132263319	12	820											
MAP3K4	4216	genome.wustl.edu	37	chr6	161533727	161533727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacctgaagtcatcactcGtgccaaaggagagggccatg	11	6	13	11	1	2	2	2	1	0	1	3	3	2	2	3	3	1	1	3	3	2	0			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr6:161533727G>A	ENST00000392142.4	+	25	4695	c.4547G>A	c.(4546-4548)cGt>cAt	p.R1516H	MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1512H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1462H|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1466H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1516	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)	p.R1515H(1)|p.R1516H(1)		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)		GTCATCACTCGTGCCAAAGGA	0.488																																							0											2	Substitution - Missense(2)	large_intestine(2)											132	129	130					6																	161533727		2203	4300	6503	SO:0001583	missense	0			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.4547G>A	6.37:g.161533727G>A	ENSP00000375986:p.Arg1516His		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.R1516H	ENST00000392142.4	37	c.4547	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.300536	0.95601	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72282	-0.6;-0.63;-0.64;-0.6	5.56	5.56	0.83823	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	0.63838	0.2545	N	0.25031	0.7	0.44702	D	0.997693	P;P;D;D	0.71674	0.699;0.587;0.994;0.998	B;B;P;P	0.61201	0.193;0.115;0.742;0.885	T	0.67624	-0.5623	10	0.46703	T	0.11	-17.7876	12.8186	0.57679	0.0744:0.0:0.9256:0.0	.	1512;452;1466;1516	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	H	1466;1516;1466;1512;1462	ENSP00000355886:R1466H;ENSP00000375986:R1516H;ENSP00000355887:R1512H;ENSP00000297332:R1462H	ENSP00000297332:R1462H	R	+	2	0	MAP3K4	161453717	1.000000	0.71417	0.011000	0.14972	0.979000	0.70002	7.878000	0.87231	2.613000	0.88420	0.655000	0.94253	CGT	0	pfam_Prot_kinase_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	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	protein_coding	OTTHUMT00000042988.3	43	114	0	0.00	0	0	G		0	0		161533727	1	no_errors	ENST00000392142	ensembl	human	known	74_37	missense	32	80	46.67	42.03	28	58	SNP	0.183	A	A	161533727	G	A	161533727	3	1	69	1	0	0	0	0	1	0	0	0	9252	1145	40	1	4645	1	MAP3K4	6	161533727	Missense_Mutation	SNP	G	TCGA-XU-A92T-01A-11D-A423-09	122681979	161533727	9581340	13	821											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	221	100	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	147	66	50.51	41.74	150	48	SNP	1	A	A	74146970	T	A	74146970	3	1	69	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-XU-A92T-01A-11D-A423-09		74146970	84991693	14	822											
LRRC67	286187	genome.wustl.edu	37	chr8	67926672	67926673	+	Frame_Shift_Del	DEL	TT	TT	-																															agcacttacagtttttccagTttctttaatgacctgaggtt																										TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	TT	TT	TT	-	TT	TT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr8:67926672_67926673delTT	ENST00000324682.5	-	3	428_429	c.284_285delAA	c.(283-285)aaafs	p.K95fs	PPP1R42_ENST00000522909.1_Frame_Shift_Del_p.K95fs|PPP1R42_ENST00000517834.1_Intron	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	95					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										GTTTTTCCAGTTTCTTTAATGA	0.297																																							0											0																																										SO:0001589	frameshift_variant	0			BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	33732	protein-coding gene	gene with protein product	"testis leucine-rich repeat"		"leucine rich repeat containing 67"	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.284_285delAA	8.37:g.67926672_67926673delTT	ENSP00000315035:p.Lys95fs			Frame_Shift_Del	DEL	pfam_Leu-rich_rpt	p.K95fs	ENST00000324682.5	37	c.285_284	CCDS34902.1	8																																																																																			0	NULL		0.297	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R42	protein_coding	OTTHUMT00000380034.2	64	180	0	0.00	0	0	TT	NM_001013626	0	0		67926673	-1	no_errors	ENST00000522909	ensembl	human	known	74_37	frame_shift_del	79	116	32.48	51.46	38	123	DEL	1.000:1.000	0	-	67926673	TT	-	67926672	7	5	69	1	0	1	0	1	0	0	0	0	9019	1722	60	0	417	0	LRRC67	8	67926672	Frame_Shift_Del	DEL	TT	TCGA-XU-A92T-01A-11D-A423-09		67926672	78437350	15	823											
CUBN	8029	genome.wustl.edu	37	chr10	17085825	17085825	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgccggtattcacacttaCtctgccggtattcagccttg	6	14	8	13	2	4	0	2	0	2	0	4	0	4	0	3	2	4	2	3	2	3	6			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr10:17085825C>T	ENST00000377833.4	-	26	3895		c.e26+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)	TTCACACTTACTCTGCCGGTA	0.448																																							0											0													196	161	173					10																	17085825		2203	4300	6503	SO:0001630	splice_region_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3829+1G>A	10.37:g.17085825C>T			B0YIZ4|Q5VTA6|Q96RU9	Splice_Site	SNP	0	e26+1	ENST00000377833.4	37	c.3829+1	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276617	0.80580	.	.	ENSG00000107611	ENST00000377833	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6451	0.88146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUBN	17125831	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.693000	0.61753	2.262000	0.75019	0.555000	0.69702	.	0	0		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	72	148	0	0.00	0	0	C	NM_001081	0	0	Intron	17085825	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	splice_site	29	78	45.28	41.35	24	55	SNP	1	T	T	17085825	C	T	17085825	5	4	69	1	0	0	0	0	0	0	1	0	4051	579	20	3	7209	3	CUBN	10	17085825	Splice_Site	SNP	C	TCGA-XU-A92T-01A-11D-A423-09		17085825	118448922	16	824											
HRAS	3265	genome.wustl.edu	37	chr11	534285	534285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcgcactcttgcccacaCcgccggcgcccaccaccacc	7	4	7	23	4	2	0	1	0	1	0	2	0	2	0	7	1	2	1	7	1	0	1	rs104894226		TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000417302.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;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)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	25	Substitution - Missense(24)|Insertion - In frame(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	GRCh37	CM053285	HRAS	M	rs104894226						89	83	85					11																	534285		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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.G13V	ENST00000451590.1	37	c.38	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT	0	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		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	37	86	0	0.00	0	0	C	NM_176795	rs104894226	C->A,G,T		534285	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	18	27	47.06	59.70	16	40	SNP	1	A	A	534285	C	A	534285	3	1	69	1	0	0	0	0	1	0	0	0	7348	507	18	5	614	5	HRAS	11	534285	Missense_Mutation	SNP	C	TCGA-XU-A92T-01A-11D-A423-09		534285	134472231	17	825											
UNC93B1	81622	genome.wustl.edu	37	chr11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagcgtcaccagcagcaCcgccagcttagcctgggcgt	8	5	11	17	3	1	0	1	0	0	0	1	0	1	0	5	1	5	3	5	1	1	1	rs4014596		TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					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)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																							0											1	Substitution - Missense(1)	skin(1)											2	2	2					11																	67759316		806	1754	2560	SO:0001583	missense	0			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.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V498M	ENST00000227471.2	37	c.1492		11	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG	0	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		27	0	0	0.00	0	0	C	NM_030930	rs4014596	C->T		67759316	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	23	0	17.86	0.00	5	0	SNP	0.997	T	T	67759316	C	T	67759316	3	4	69	1	0	0	0	0	1	0	0	0	16994	507	18	3	302	3	UNC93B1	11	67759316	Missense_Mutation	SNP	C	TCGA-XU-A92T-01A-11D-A423-09	67225031	67759316	67247200	18	826											
SPN	6693	genome.wustl.edu	37	chr16	29675931	29675931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgctgagcagaggcggCaagcgtaacggggtggtgga	8	6	19	8	4	0	2	0	1	0	1	1	3	0	3	0	6	4	4	0	6	2	1			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr16:29675931C>T	ENST00000360121.3	+	2	974	c.882C>T	c.(880-882)ggC>ggT	p.G294G	SPN_ENST00000395389.2_Silent_p.G294G	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0				V -> L (in Ref. 4; AAB62704). {ECO:0000305}.	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						GCAGAGGCGGCAAGCGTAACG	0.716																																							0											0													13	13	13					16																	29675931		2188	4282	6470	SO:0001819	synonymous_variant	0			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.882C>T	16.37:g.29675931C>T			A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	NULL	p.G294	ENST00000360121.3	37	c.882	CCDS10650.1	16																																																																																			0	NULL		0.716	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPN	protein_coding	OTTHUMT00000215001.2	44	17	0	0.00	0	0	C		0	0		29675931	1	no_errors	ENST00000360121	ensembl	human	known	74_37	silent	30	6	9.09	0.00	3	0	SNP	0.084	T	T	29675931	C	T	29675931	2	4	69	1	0	0	0	0	0	0	0	1	15072	697	25	3		3	SPN	16	29675931	Silent	SNP	C	TCGA-XU-A92T-01A-11D-A423-09		29675931	60678822	19	827											
C16orf48	84080	genome.wustl.edu	37	chr16	67700305	67700305	+	Frame_Shift_Del	DEL	G	G	-																															caggacagagcgtcgggtctGgggggatgggccccgagatg																										TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr16:67700305delG	ENST00000243878.4	-	1	362	c.41delC	c.(40-42)ccafs	p.P14fs	ENKD1_ENST00000602644.1_Frame_Shift_Del_p.P14fs|ENKD1_ENST00000602409.1_5'Flank|C16orf86_ENST00000403458.4_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	14						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											CGTCGGGTCTGGGGGGATGGG	0.736																																							0											0													7	6	6					16																	67700305		2065	4132	6197	SO:0001589	frameshift_variant	0			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.41delC	16.37:g.67700305delG	ENSP00000243878:p.Pro14fs		Q6UWD7	Frame_Shift_Del	DEL	NULL	p.P14fs	ENST00000243878.4	37	c.41	CCDS10844.1	16																																																																																			0	NULL		0.736	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENKD1	protein_coding	OTTHUMT00000268884.1	10	14	0	0.00	0	0	G	NM_032140	0	0		67700305	-1	no_errors	ENST00000243878	ensembl	human	known	74_37	frame_shift_del	4	8	33.33	0.00	2	0	DEL	1	0	-	67700305	G	-	67700305	7	5	69	1	0	1	0	1	0	0	0	0	1816	1348	47	0	1027	0	C16orf48	16	67700305	Frame_Shift_Del	DEL	G	TCGA-XU-A92T-01A-11D-A423-09	38024374	67700305	22654448	20	828											
PPM1E	4591	genome.wustl.edu	37	chr17	57057844	57057844	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctacctagatctcacaCaaatagaagcaagcaaacct	17	6	6	12	0	1	2	1	0	1	2	2	2	1	2	2	1	4	3	2	1	7	3			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr17:57057844C>T	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Nonsense_Mutation_p.Q574*	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|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(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGATCTCACACAAATAGAAGC	0.458									Mulibrey Nanism																														0											0													94	85	88					17																	57057844		2203	4300	6503	SO:0001628	intergenic_variant	0	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057844C>T			Q7Z3E6|Q8IYF7|Q8WYF7	Nonsense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.Q574*	ENST00000393066.3	37	c.1720	CCDS45746.1	17	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086172	0.76642	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	.	.	.	5.74	3.65	0.41850	.	0.574340	0.19536	N	0.111912	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	0.3522	10.1052	0.42528	0.207:0.6833:0.1098:0.0	.	.	.	.	X	574;425	.	ENSP00000312411:Q574X	Q	+	1	0	PPM1E	54412626	0.997000	0.39634	0.999000	0.59377	0.926000	0.56050	1.064000	0.30579	2.721000	0.93114	0.491000	0.48974	CAA	0	NULL		0.458	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	protein_coding	OTTHUMT00000445928.1	14	191	0	0.00	0	0	C	NM_015294	0	0		57057844	1	no_errors	ENST00000308249	ensembl	human	known	74_37	nonsense	12	124	40	43.38	8	95	SNP	0.996	T	T	57057844	C	T	57057844	1	4	69	0	1	0	0	0	0	0	0	0	12338	479	17	3		3	PPM1E	17	57057844	IGR	SNP	C	TCGA-XU-A92T-01A-11D-A423-09		57057844	24137366	21	829											
SCGBL	284402	genome.wustl.edu	37	chr19	35085134	35085134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacattggcaaagcattgCtggacattgaggaaggactc	13	8	13	7	0	0	2	0	1	0	1	1	6	0	5	0	4	2	3	0	4	2	3			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr19:35085134C>A	ENST00000601241.1	-	3	2292	c.192G>T	c.(190-192)caG>caT	p.Q64H	SCGB2B2_ENST00000379204.2_Missense_Mutation_p.Q64H|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	64						extracellular region (GO:0005576)											CAAAGCATTGCTGGACATTGA	0.517																																							0											0													121	105	110					19																	35085134		2203	4300	6503	SO:0001583	missense	0			AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"Secretoglobins"	27616	protein-coding gene	gene with protein product		615063	"secretoglobin-like"	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.192G>T	19.37:g.35085134C>A	ENSP00000469876:p.Gln64His			Missense_Mutation	SNP	pfam_Secretoglobin,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin	p.Q64H	ENST00000601241.1	37	c.192	CCDS32989.1	19	.	.	.	.	.	.	.	.	.	.	C	4.635	0.118082	0.08881	.	.	ENSG00000205209	ENST00000379204	T	0.13657	2.57	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.15349	0.0370	.	.	.	0.09310	N	1	P	0.43826	0.818	P	0.46629	0.522	T	0.16394	-1.0404	7	0.87932	D	0	.	.	.	.	.	64	Q4G0G5	SCGBL_HUMAN	H	64	ENSP00000368502:Q64H	ENSP00000368502:Q64H	Q	-	3	2	SCGBL	39776974	0.021000	0.18746	0.196000	0.23383	0.198000	0.23893	0.145000	0.16157	0.132000	0.18615	0.134000	0.15878	CAG	0	pfam_Secretoglobin,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin		0.517	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2B2	protein_coding	OTTHUMT00000461457.2	41	57	0	0.00	0	0	C	NM_001025591	0	0		35085134	-1	no_errors	ENST00000379204	ensembl	human	known	74_37	missense	27	40	48.08	42.03	25	29	SNP	0.215	A	A	35085134	C	A	35085134	3	1	69	1	0	0	0	0	1	0	0	0	13902	796	28	5	106	5	SCGBL	19	35085134	Missense_Mutation	SNP	C	TCGA-XU-A92T-01A-11D-A423-09		35085134	24043849	22	830											
GYS1	2997	genome.wustl.edu	37	chr19	49472822	49472822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagtgtcgtgacagcgagGgcgacggtggcaccgaggct	7	6	19	9	5	0	1	0	1	0	0	1	5	0	2	1	5	1	2	1	5	0	0			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr19:49472822G>C	ENST00000323798.3	-	16	2133	c.1937C>G	c.(1936-1938)cCc>cGc	p.P646R	GYS1_ENST00000544287.1_Missense_Mutation_p.P279R|GYS1_ENST00000263276.6_Missense_Mutation_p.P582R|GYS1_ENST00000541188.1_Missense_Mutation_p.P566R	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	646					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGACAGCGAGGGCGACGGTGG	0.677																																							0											0													31	16	21					19																	49472822		2018	3929	5947	SO:0001583	missense	0				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1937C>G	19.37:g.49472822G>C	ENSP00000317904:p.Pro646Arg		Q9BTT9	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.P646R	ENST00000323798.3	37	c.1937	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	G	31	5.092633	0.94149	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.88842	2.985	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.998	D;D;D	0.67382	0.951;0.929;0.951	D	0.89046	0.3452	10	0.59425	D	0.04	-34.6328	17.7236	0.88359	0.0:0.0:1.0:0.0	.	566;582;646	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	R	646;582;566;279	ENSP00000317904:P646R;ENSP00000263276:P582R;ENSP00000437922:P566R;ENSP00000444004:P279R	ENSP00000263276:P582R	P	-	2	0	GYS1	54164634	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	9.139000	0.94554	2.854000	0.98071	0.655000	0.94253	CCC	0	pfam_Glycogen_synth		0.677	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	protein_coding	OTTHUMT00000319791.1	8	60	0	0.00	0	0	G	NM_002103	0	0		49472822	-1	no_errors	ENST00000323798	ensembl	human	known	74_37	missense	4	14	63.64	69.57	7	32	SNP	1	C	C	49472822	G	C	49472822	3	2	69	1	0	0	0	0	1	0	0	0	6912	1232	43	5	280	5	GYS1	19	49472822	Missense_Mutation	SNP	G	TCGA-XU-A92T-01A-11D-A423-09	14387688	49472822	9656161	23	831											
MYH14	79784	genome.wustl.edu	37	chr19	50753918	50753918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcgggatcaggccgaCttcagtgttctccactacgc	7	9	10	15	3	3	0	2	0	1	0	4	2	3	1	3	2	2	1	3	2	1	3			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr19:50753918C>A	ENST00000596571.1	+	13	1779	c.1779C>A	c.(1777-1779)gaC>gaA	p.D593E	MYH14_ENST00000440075.2_Missense_Mutation_p.D601E|MYH14_ENST00000262269.8_Missense_Mutation_p.D601E|MYH14_ENST00000425460.1_Missense_Mutation_p.D601E|MYH14_ENST00000376970.2_Missense_Mutation_p.D593E|MYH14_ENST00000601313.1_Missense_Mutation_p.D601E|MYH14_ENST00000598205.1_Missense_Mutation_p.D601E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	593	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)	p.D601E(1)|p.D593E(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ATCAGGCCGACTTCAGTGTTC	0.652																																							0											2	Substitution - Missense(2)	endometrium(2)											37	45	43					19																	50753918		2099	4215	6314	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1779C>A	19.37:g.50753918C>A	ENSP00000472819:p.Asp593Glu		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.D601E	ENST00000596571.1	37	c.1803	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365426	0.41902	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	4.09	4.09	0.47781	Myosin head, motor domain (2);	.	.	.	.	T	0.79644	0.4481	L	0.37561	1.115	0.50813	D	0.999893	B;B;B	0.31989	0.091;0.23;0.35	B;B;B	0.32928	0.066;0.155;0.096	T	0.76713	-0.2858	9	0.38643	T	0.18	.	7.9104	0.29787	0.0:0.8871:0.0:0.1129	.	601;593;601	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	E	593;601;593;601;593;601	ENSP00000406273:D601E;ENSP00000366169:D593E;ENSP00000407879:D601E;ENSP00000262269:D601E	ENSP00000262269:D601E	D	+	3	2	MYH14	55445730	0.889000	0.30405	1.000000	0.80357	0.913000	0.54294	0.034000	0.13776	2.287000	0.76781	0.561000	0.74099	GAC	0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.652	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	76	76	0	0.00	0	0	C	NM_024729	0	0		50753918	1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	29	45	59.72	48.28	43	42	SNP	1	A	A	50753918	C	A	50753918	3	1	69	1	0	0	0	0	1	0	0	0	10033	564	20	5	1857	5	MYH14	19	50753918	Missense_Mutation	SNP	C	TCGA-XU-A92T-01A-11D-A423-09	1281096	50753918	8375065	24	832											
GTSF1L	149699	genome.wustl.edu	37	chr20	42355134	42355134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcctcttcttccacagcGctcctgttgacacaaacagc	8	11	7	15	1	2	1	0	1	2	0	5	1	5	1	3	0	3	2	3	0	1	3	rs551274767		TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chr20:42355134G>C	ENST00000373003.1	-	1	504	c.201C>G	c.(199-201)agC>agG	p.S67R	GTSF1L_ENST00000373005.2_Missense_Mutation_p.S67R	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	67							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTTCCACAGCGCTCCTGTTGA	0.537																																							0											0													134	115	122					20																	42355134		2203	4300	6503	SO:0001583	missense	0			AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 65", "family with sequence similarity 112, member A"	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.201C>G	20.37:g.42355134G>C	ENSP00000362094:p.Ser67Arg		Q5JWH5	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.S67R	ENST00000373003.1	37	c.201	CCDS13323.1	20	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096627	0.36952	.	.	ENSG00000124196	ENST00000373003;ENST00000373005	T;T	0.46063	0.88;0.95	3.68	1.66	0.24008	.	0.206082	0.35067	N	0.003463	T	0.45296	0.1335	L	0.50333	1.59	0.26522	N	0.974401	D;D	0.71674	0.998;0.995	P;P	0.62298	0.9;0.795	T	0.28776	-1.0033	10	0.20046	T	0.44	-16.2031	5.1506	0.15007	0.1168:0.2114:0.6718:0.0	.	67;67	Q9H1H1;Q5JWH5	GTSFL_HUMAN;.	R	67	ENSP00000362094:S67R;ENSP00000362096:S67R	ENSP00000362094:S67R	S	-	3	2	GTSF1L	41788548	0.910000	0.30920	0.538000	0.28064	0.655000	0.38815	2.034000	0.41145	0.509000	0.28195	0.430000	0.28490	AGC	0	NULL		0.537	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTSF1L	protein_coding	OTTHUMT00000079313.1	42	98	0	0.00	0	0	G	NM_176791	0	0		42355134	-1	no_errors	ENST00000373003	ensembl	human	known	74_37	missense	12	42	65.71	46.91	23	38	SNP	0.557	C	C	42355134	G	C	42355134	3	2	69	1	0	0	0	0	1	0	0	0	6887	1078	38	5	249	5	GTSF1L	20	42355134	Missense_Mutation	SNP	G	TCGA-XU-A92T-01A-11D-A423-09		42355134	20670386	25	833											
TRO	7216	genome.wustl.edu	37	chrX	54956354	54956354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtggtgcactcaacaccaAtgccagctttggctgtgccg	7	10	12	12	1	1	0	1	0	0	0	1	0	1	0	3	3	5	3	3	3	2	1			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chrX:54956354A>G	ENST00000173898.7	+	12	3309	c.3197A>G	c.(3196-3198)aAt>aGt	p.N1066S	TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.N669S|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Missense_Mutation_p.N597S|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1066	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						CTCAACACCAATGCCAGCTTT	0.562													A|||	1	0.000264901	8e-04	0	3775	,	,		18230	0		0	False		,,,				2504	0						0											0													31	29	30					X																	54956354		2022	4168	6190	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3197A>G	X.37:g.54956354A>G	ENSP00000173898:p.Asn1066Ser		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.N1066S	ENST00000173898.7	37	c.3197	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.946905	0.00475	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.03745	3.82;3.82;3.82	2.81	-0.0372	0.13885	.	.	.	.	.	T	0.01189	0.0039	N	0.01505	-0.83	0.09310	N	1	B;B	0.18013	0.025;0.025	B;B	0.18263	0.021;0.008	T	0.46911	-0.9157	9	0.02654	T	1	.	6.5227	0.22285	0.4057:0.0:0.5943:0.0	.	669;1066	B1AKE9;Q12816	.;TROP_HUMAN	S	1066;597;669	ENSP00000173898:N1066S;ENSP00000405126:N597S;ENSP00000364181:N669S	ENSP00000173898:N1066S	N	+	2	0	TRO	54973079	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.399000	0.07250	-0.120000	0.11809	-0.537000	0.04273	AAT	0	NULL		0.562	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	protein_coding	OTTHUMT00000056837.3	22	29	0	0.00	0	0	A	NM_016157	0	0		54956354	1	no_errors	ENST00000173898	ensembl	human	known	74_37	missense	11	23	47.62	54.00	10	27	SNP	0	G	G	54956354	A	G	54956354	3	3	69	1	0	0	0	0	1	0	0	0	16571	101	4	3	3239	3	TRO	23	54956354	Missense_Mutation	SNP	A	TCGA-XU-A92T-01A-11D-A423-09		54956354	100314206	26	834											
RGAG4	340526	genome.wustl.edu	37	chrX	71351032	71351032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgggatgggcagcagagggGggtcagcgggcccgtcgggg	5	3	24	9	4	1	1	1	0	0	1	2	2	1	2	1	8	2	2	1	8	0	0			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chrX:71351032G>C	ENST00000545866.1	-	1	726	c.359C>G	c.(358-360)cCc>cGc	p.P120R	RGAG4_ENST00000609883.1_Missense_Mutation_p.P120R|NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000510661.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	120										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CAGCAGAGGGGGGTCAGCGGG	0.697																																							0											0													6	7	7					X																	71351032		1773	3882	5655	SO:0001583	missense	0			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.359C>G	X.37:g.71351032G>C	ENSP00000441366:p.Pro120Arg		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom	p.P120R	ENST00000545866.1	37	c.359	CCDS55446.1	X	.	.	.	.	.	.	.	.	.	.	G	2.582	-0.297210	0.05532	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.14893	2.47;2.47	4.19	3.32	0.38043	.	.	.	.	.	T	0.11153	0.0272	N	0.19112	0.55	0.09310	N	1	P	0.44627	0.839	B	0.41202	0.35	T	0.13845	-1.0494	8	.	.	.	-0.9132	8.3955	0.32555	0.0:0.0:0.7675:0.2325	.	120	Q5HYW3	RGAG4_HUMAN	R	120	ENSP00000441366:P120R;ENSP00000418667:P120R	.	P	-	2	0	RGAG4	71267757	0.014000	0.17966	0.001000	0.08648	0.013000	0.08279	1.589000	0.36644	1.108000	0.41662	-0.324000	0.08512	CCC	0	NULL		0.697	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	protein_coding	OTTHUMT00000057171.1	24	16	0	0.00	0	0	G	NM_001024455	0	0		71351032	-1	no_errors	ENST00000479991	ensembl	human	known	74_37	missense	6	12	64.71	65.71	11	23	SNP	0.001	C	C	71351032	G	C	71351032	3	2	69	1	0	0	0	0	1	0	0	0	13275	1232	43	5	1354	5	RGAG4	23	71351032	Missense_Mutation	SNP	G	TCGA-XU-A92T-01A-11D-A423-09	16394678	71351032	83919528	27	835											
AIFM1	9131	genome.wustl.edu	37	chrX	129270037	129270037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccacccagatgttagagcGtgcttgtagctctgcattta	9	13	9	10	1	1	2	0	0	1	2	1	2	1	2	2	0	5	5	2	0	4	6			TCGA-XU-A92T-01A-11D-A423-09	TCGA-XU-A92T-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e80e05f1-3c9c-4265-8f4b-661a04bca0b4	f269fcbe-be4a-4324-b0b0-f6eee25c5a9f	g.chrX:129270037G>A	ENST00000287295.3	-	12	1518	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.R426C|AIFM1_ENST00000440263.1_Missense_Mutation_p.R78C|AIFM1_ENST00000460436.2_Missense_Mutation_p.R91C|AIFM1_ENST00000346424.2_Missense_Mutation_p.R143C	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	430	FAD-dependent oxidoreductase. {ECO:0000250}.				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)	ATGTTAGAGCGTGCTTGTAGC	0.517																																							0											0													137	107	117					X																	129270037		2203	4300	6503	SO:0001583	missense	0			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1288C>T	X.37:g.129270037G>A	ENSP00000287295:p.Arg430Cys		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.R430C	ENST00000287295.3	37	c.1288	CCDS14618.1	X	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247909	0.80024	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;T;T;T	0.49720	0.79;0.79;0.89;0.77;0.89	6.0	6.0	0.97389	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.77820	2.39	0.80722	D	1	P;D;D	0.89917	0.803;0.999;1.0	B;D;D	0.70487	0.316;0.923;0.969	T	0.73633	-0.3921	10	0.72032	D	0.01	-8.016	19.4264	0.94742	0.0:0.0:1.0:0.0	.	143;426;430	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	C	91;143;426;78;430	ENSP00000431222:R91C;ENSP00000316320:R143C;ENSP00000315122:R426C;ENSP00000405879:R78C;ENSP00000287295:R430C	ENSP00000287295:R430C	R	-	1	0	AIFM1	129097718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.281000	0.78621	2.542000	0.85734	0.600000	0.82982	CGC	0	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.517	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM1	protein_coding	OTTHUMT00000058247.2	43	137	0	0.72	0	1	G		0	0		129270037	-1	no_errors	ENST00000287295	ensembl	human	known	74_37	missense	28	69	53.33	52.41	32	76	SNP	1	A	A	129270037	G	A	129270037	3	1	69	1	0	0	0	0	1	0	0	0	426	1145	40	1	573	1	AIFM1	23	129270037	Missense_Mutation	SNP	G	TCGA-XU-A92T-01A-11D-A423-09	57919005	129270037	26000523	28	836											
REG1A	5967	genome.wustl.edu	37	chr2	79349973	79349973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccccatctagaaccgcCgctggcactggagcagtggg	7	7	12	15	2	1	1	0	0	1	1	2	2	2	2	5	3	2	3	5	3	2	2	rs374824380		TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr2:79349973C>T	ENST00000233735.1	+	5	431	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.R110C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CTAGAACCGCCGCTGGCACTG	0.552																																							0											1	Substitution - Missense(1)	endometrium(1)						C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	103	103	103		328	0.2	0.9	2		103	0,8600		0,0,4300	no	missense	REG1A	NM_002909.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	110/167	79349973	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.328C>T	2.37:g.79349973C>T	ENSP00000233735:p.Arg110Cys		P11379|Q4ZG28	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.R110C	ENST00000233735.1	37	c.328	CCDS1964.1	2	.	.	.	.	.	.	.	.	.	.	c	9.947	1.219017	0.22373	2.27E-4	0.0	ENSG00000115386	ENST00000233735	T	0.19394	2.15	2.4	0.179	0.15063	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.391148	0.18799	N	0.130853	T	0.20700	0.0498	M	0.81497	2.545	0.36615	D	0.875424	B	0.11235	0.004	B	0.04013	0.001	T	0.11494	-1.0585	10	0.52906	T	0.07	.	2.4197	0.04445	0.2926:0.5242:0.0:0.1832	.	110	P05451	REG1A_HUMAN	C	110	ENSP00000233735:R110C	ENSP00000233735:R110C	R	+	1	0	REG1A	79203481	0.001000	0.12720	0.904000	0.35570	0.785000	0.44390	-0.144000	0.10280	0.329000	0.23460	0.557000	0.71058	CGC	0	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.552	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1A	protein_coding	OTTHUMT00000252289.1	37	197	0	0.00	0	0	C	NM_002909	rs374824380	C->T		79349973	1	no_errors	ENST00000233735	ensembl	human	known	74_37	missense	53	144	7.02	15.79	4	27	SNP	0.88	T	T	79349973	C	T	79349973	3	4	70	1	0	0	0	0	1	0	0	0	13210	652	23	2	342	2	REG1A	2	79349973	Missense_Mutation	SNP	C	TCGA-XU-A92U-01A-11D-A423-09		79349973	163849400	1	837											
FMNL2	114793	genome.wustl.edu	37	chr2	153493018	153493018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagagagagtacaccatgCatgaccataacacgctgctg	14	6	9	12	1	0	3	0	1	0	2	0	4	0	3	3	0	4	4	3	0	3	2			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr2:153493018C>T	ENST00000475377.2	+	9	1083	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	FMNL2_ENST00000288670.9_Missense_Mutation_p.H920Y			Q96PY5	FMNL2_HUMAN	formin-like 2	920	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						GTACACCATGCATGACCATAA	0.493																																							0											0													79	79	79					2																	153493018		2076	4224	6300	SO:0001583	missense	0			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.883C>T	2.37:g.153493018C>T	ENSP00000418959:p.His295Tyr		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.H920Y	ENST00000475377.2	37	c.2758		2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254465	0.80135	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.63255	-0.03;-0.03	5.67	5.67	0.87782	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	M	0.84683	2.71	0.80722	D	1	P;D;D	0.65815	0.925;0.995;0.975	D;D;P	0.67900	0.954;0.943;0.836	T	0.81854	-0.0741	10	0.46703	T	0.11	.	19.7694	0.96356	0.0:1.0:0.0:0.0	.	920;401;920	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	Y	920;401;295	ENSP00000288670:H920Y;ENSP00000418959:H295Y	ENSP00000288670:H920Y	H	+	1	0	FMNL2	153201264	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.818000	0.86416	2.689000	0.91719	0.563000	0.77884	CAT	0	pfam_FH2_Formin,smart_FH2_Formin		0.493	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	FMNL2	protein_coding	OTTHUMT00000333583.3	36	173	0	0.00	0	0	C	NM_052905	0	0		153493018	1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	48	142	11.11	7.19	6	11	SNP	1	T	T	153493018	C	T	153493018	3	4	70	1	0	0	0	0	1	0	0	0	5952	710	25	3	2844	3	FMNL2	2	153493018	Missense_Mutation	SNP	C	TCGA-XU-A92U-01A-11D-A423-09	74143045	153493018	89706355	2	838											
DNAH7	56171	genome.wustl.edu	37	chr2	196912090	196912090	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacataatgacattaacAagagtacttctaaagttttc	16	14	4	7	0	1	2	0	1	1	1	2	2	1	2	0	0	3	2	0	0	7	8			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr2:196912090A>G	ENST00000312428.6	-	5	484	c.384T>C	c.(382-384)ctT>ctC	p.L128L	DNAH7_ENST00000410072.1_Silent_p.L128L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	128	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						TGACATTAACAAGAGTACTTC	0.368																																							0											0													150	144	146					2																	196912090		1847	4089	5936	SO:0001819	synonymous_variant	0			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.384T>C	2.37:g.196912090A>G			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.L128	ENST00000312428.6	37	c.384	CCDS42794.1	2																																																																																			0	NULL		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	48	277	0	0.00	0	0	A	NM_018897	0	0		196912090	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	silent	80	309	8.99	5.50	8	18	SNP	0.966	G	G	196912090	A	G	196912090	2	3	70	1	0	0	0	0	0	0	0	1	4606	117	5	3		3	DNAH7	2	196912090	Silent	SNP	A	TCGA-XU-A92U-01A-11D-A423-09	43419072	196912090	46287283	3	839											
FAM105A	54491	genome.wustl.edu	37	chr5	14608872	14608872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttagtggactgaatttaatGgcattagagattatcacaag	14	14	9	4	0	1	2	1	1	0	1	1	4	1	3	0	2	0	1	0	2	6	6			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr5:14608872G>T	ENST00000274217.3	+	7	763	c.643G>T	c.(643-645)Ggc>Tgc	p.G215C		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	215	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGAATTTAATGGCATTAGAGA	0.303																																							0											0													60	60	60					5																	14608872		2203	4300	6503	SO:0001583	missense	0				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.643G>T	5.37:g.14608872G>T	ENSP00000274217:p.Gly215Cys		Q53H50|Q9H037	Missense_Mutation	SNP	prints_FAM105,prints_FAM105A	p.G215C	ENST00000274217.3	37	c.643	CCDS3884.1	5	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707398	0.48412	.	.	ENSG00000145569	ENST00000274217	T	0.19806	2.12	4.51	3.64	0.41730	.	0.414462	0.23176	N	0.051068	T	0.34774	0.0909	L	0.60455	1.87	0.32701	N	0.512905	D	0.69078	0.997	P	0.60473	0.875	T	0.48433	-0.9036	10	0.72032	D	0.01	-6.6011	8.2907	0.31956	0.2542:0.0:0.7458:0.0	.	215	Q9NUU6	F105A_HUMAN	C	215	ENSP00000274217:G215C	ENSP00000274217:G215C	G	+	1	0	FAM105A	14661872	1.000000	0.71417	0.713000	0.30519	0.980000	0.70556	2.250000	0.43178	0.885000	0.36088	0.484000	0.47621	GGC	0	prints_FAM105,prints_FAM105A		0.303	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	protein_coding	OTTHUMT00000253710.1	24	292	0	0.00	0	0	G	NM_019018	0	0		14608872	1	no_errors	ENST00000274217	ensembl	human	known	74_37	missense	35	253	10.26	12.07	4	35	SNP	0.719	T	T	14608872	G	T	14608872	3	4	70	1	0	0	0	0	1	0	0	0	5387	1348	47	5	669	5	FAM105A	5	14608872	Missense_Mutation	SNP	G	TCGA-XU-A92U-01A-11D-A423-09		14608872	166306388	4	840											
RGNEF	64283	genome.wustl.edu	37	chr5	73183500	73183500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagaaatacatctttgcagCcgttgtaagtatatgactgt	12	13	8	8	1	1	2	0	1	1	1	1	2	1	2	2	0	3	4	2	0	5	6			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr5:73183500C>G	ENST00000426542.2	+	25	3403	c.3383C>G	c.(3382-3384)gCc>gGc	p.A1128G	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.A815G|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A1128G|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.A92G|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A1128G|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A1128G|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.A1128G|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A1128G			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1128	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)										ATCTTTGCAGCCGTTGTAAGT	0.294																																							0											0													71	64	66					5																	73183500		1808	4076	5884	SO:0001583	missense	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3383C>G	5.37:g.73183500C>G	ENSP00000412175:p.Ala1128Gly		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.A1128G	ENST00000426542.2	37	c.3383	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880782	0.91740	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.47	5.47	0.80525	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.32868	U	0.005552	T	0.75110	0.3805	L	0.47716	1.5	0.46336	D	0.998997	D;D;D;D;D	0.76494	0.999;0.998;0.991;0.998;0.994	D;D;P;D;D	0.71184	0.969;0.952;0.884;0.972;0.92	T	0.76219	-0.3039	10	0.72032	D	0.01	.	19.6948	0.96021	0.0:1.0:0.0:0.0	.	815;1128;1128;92;1128	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	G	1128;1128;1128;1128;1128;1128;815;92	ENSP00000296794:A1128G;ENSP00000441913:A1128G;ENSP00000441436:A1128G;ENSP00000287898:A1128G;ENSP00000411459:A1128G;ENSP00000412175:A1128G;ENSP00000296799:A815G;ENSP00000421081:A92G	ENSP00000287898:A1128G	A	+	2	0	RP11-428C6.1	73219256	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	4.512000	0.60469	2.723000	0.93209	0.655000	0.94253	GCC	0	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.294	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	protein_coding	OTTHUMT00000368975.1	58	289	0	0.00	0	0	C		0	0		73183500	1	no_errors	ENST00000545377	ensembl	human	known	74_37	missense	74	333	10.84	7.48	9	27	SNP	1	G	G	73183500	C	G	73183500	3	3	70	1	0	0	0	0	1	0	0	0	13283	739	26	5	3481	5	RGNEF	5	73183500	Missense_Mutation	SNP	C	TCGA-XU-A92U-01A-11D-A423-09	58574628	73183500	107731760	5	841											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	243	140	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	355	133	8.48	11.84	33	18	SNP	1	A	A	74146970	T	A	74146970	3	1	70	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-XU-A92U-01A-11D-A423-09		74146970	84991693	6	842											
UBN2	254048	genome.wustl.edu	37	chr7	138968003	138968003	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaatgggaacaagggcccTccagttggctcaaggataag	14	6	12	9	0	1	0	1	0	0	0	2	2	2	2	2	4	2	2	2	4	6	2			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr7:138968003T>A	ENST00000473989.3	+	15	2352	c.2352T>A	c.(2350-2352)ccT>ccA	p.P784P	UBN2_ENST00000288561.8_Silent_p.P701P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	784						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						ACAAGGGCCCTCCAGTTGGCT	0.468																																							0											0													112	110	111					7																	138968003		1918	4128	6046	SO:0001819	synonymous_variant	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2352T>A	7.37:g.138968003T>A			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	NULL	p.P784	ENST00000473989.3	37	c.2352	CCDS43655.2	7																																																																																			0	NULL		0.468	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	protein_coding	OTTHUMT00000349272.3	38	208	0	0.00	0	0	T	NM_173569	0	0		138968003	1	no_errors	ENST00000473989	ensembl	human	known	74_37	silent	44	182	10.2	6.19	5	12	SNP	0.866	A	A	138968003	T	A	138968003	2	1	70	1	0	0	0	0	0	0	0	1	16890	1538	54	5		5	UBN2	7	138968003	Silent	SNP	T	TCGA-XU-A92U-01A-11D-A423-09	64821033	138968003	20170660	7	843											
MUC6	4588	genome.wustl.edu	37	chr11	1018111	1018111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcctgctgctggtggCtgagttggtgtgggccacag	3	11	19	8	0	0	1	0	1	0	0	0	1	0	1	2	6	2	4	2	6	0	1			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr11:1018111C>A	ENST00000421673.2	-	31	4740	c.4690G>T	c.(4690-4692)Gcc>Tcc	p.A1564S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1564	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)		CTGCTGGTGGCTGAGTTGGTG	0.577																																							0											0													249	260	256					11																	1018111		2182	4272	6454	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4690G>T	11.37:g.1018111C>A	ENSP00000406861:p.Ala1564Ser		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.A1564S	ENST00000421673.2	37	c.4690	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	6.618	0.482480	0.12581	.	.	ENSG00000184956	ENST00000421673	T	0.20463	2.07	1.67	-0.699	0.11277	.	.	.	.	.	T	0.15392	0.0371	L	0.58101	1.795	0.09310	N	1	B	0.25486	0.127	B	0.23275	0.045	T	0.34576	-0.9823	9	0.18276	T	0.48	.	2.7357	0.05239	0.0:0.3663:0.2514:0.3823	.	1564	Q6W4X9	MUC6_HUMAN	S	1564	ENSP00000406861:A1564S	ENSP00000406861:A1564S	A	-	1	0	MUC6	1008111	0.997000	0.39634	0.000000	0.03702	0.065000	0.16274	-0.235000	0.09016	-0.169000	0.10834	0.313000	0.20887	GCC	0	NULL		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	protein_coding	OTTHUMT00000382120.2	54	119	0	0.00	0	0	C	XM_290540	0	0		1018111	-1	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	67	124	8.22	4.58	6	6	SNP	0	A	A	1018111	C	A	1018111	3	1	70	1	0	0	0	0	1	0	0	0	9980	797	28	5	2641	5	MUC6	11	1018111	Missense_Mutation	SNP	C	TCGA-XU-A92U-01A-11D-A423-09		1018111	133988405	8	844											
NCAPD3	23310	genome.wustl.edu	37	chr11	134028286	134028286	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagatgatactgctacAtggccagcacttgccctggg	9	9	13	10	0	0	2	0	1	0	1	0	3	0	2	2	3	5	3	2	3	3	4			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr11:134028286A>G	ENST00000534548.2	-	30	4036	c.3972T>C	c.(3970-3972)caT>caC	p.H1324H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1324					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATACTGCTACATGGCCAGCAC	0.577																																							0											0													90	87	88					11																	134028286		2201	4297	6498	SO:0001819	synonymous_variant	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3972T>C	11.37:g.134028286A>G			A6NFS2|Q4KMQ9	Silent	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.H1324	ENST00000534548.2	37	c.3972	CCDS31723.1	11																																																																																			0	pirsf_NCAPD3		0.577	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	protein_coding	OTTHUMT00000393575.2	43	68	0	0.00	0	0	A	NM_015261	0	0		134028286	-1	no_errors	ENST00000534548	ensembl	human	known	74_37	silent	40	64	14.89	8.57	7	6	SNP	0	G	G	134028286	A	G	134028286	2	3	70	1	0	0	0	0	0	0	0	1	10206	214	8	3		3	NCAPD3	11	134028286	Silent	SNP	A	TCGA-XU-A92U-01A-11D-A423-09	133010175	134028286	978230	9	845											
CDH11	1009	genome.wustl.edu	37	chr16	65038702	65038702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgcccccgccgctctgggGcaaaggcatggctgtggcac	5	6	16	14	2	1	0	0	0	1	0	1	0	1	0	3	6	1	5	3	6	1	0			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr16:65038702G>A	ENST00000268603.4	-	3	686	c.71C>T	c.(70-72)gCc>gTc	p.A24V	CDH11_ENST00000394156.3_Missense_Mutation_p.A24V|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	24					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)		CCGCTCTGGGGCAAAGGCATG	0.617			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													0		Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													20	23	22					16																	65038702		2202	4298	6500	SO:0001583	missense	0			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.71C>T	16.37:g.65038702G>A	ENSP00000268603:p.Ala24Val		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.A24V	ENST00000268603.4	37	c.71	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	4.973	0.180714	0.09443	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.56611	0.45;0.45	5.47	3.46	0.39613	.	1.339510	0.04496	N	0.380433	T	0.44519	0.1297	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.40270	-0.9572	10	0.35671	T	0.21	.	14.8823	0.70542	0.0:0.2958:0.7042:0.0	.	24;24	P55287-2;P55287	.;CAD11_HUMAN	V	24	ENSP00000268603:A24V;ENSP00000377711:A24V	ENSP00000268603:A24V	A	-	2	0	CDH11	63596203	0.048000	0.20356	0.001000	0.08648	0.226000	0.24999	2.437000	0.44828	0.635000	0.30488	0.591000	0.81541	GCC	0	NULL		0.617	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	protein_coding	OTTHUMT00000268755.1	35	46	0	0.00	0	0	G	NM_033664	0	0		65038702	-1	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	16	42	15.79	10.64	3	5	SNP	0.001	A	A	65038702	G	A	65038702	3	1	70	1	0	0	0	0	1	0	0	0	3097	1203	42	3	2363	3	CDH11	16	65038702	Missense_Mutation	SNP	G	TCGA-XU-A92U-01A-11D-A423-09		65038702	25316051	10	846											
HP	3240	genome.wustl.edu	37	chr16	72094699	72094699	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgactgggatcttaagcttTgataagagctgtgctgtggc	8	12	14	7	1	1	2	0	1	1	1	1	4	1	3	0	2	3	3	0	2	2	3			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr16:72094699T>A	ENST00000355906.5	+	7	1189	c.1131T>A	c.(1129-1131)ttT>ttA	p.F377L	HP_ENST00000357763.4_Missense_Mutation_p.F413L|HPR_ENST00000561690.1_5'Flank|HP_ENST00000398131.2_Missense_Mutation_p.F318L|HPR_ENST00000540303.2_5'Flank|HP_ENST00000565574.1_Missense_Mutation_p.F318L|HP_ENST00000562526.1_3'UTR|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Missense_Mutation_p.F318L	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	377	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)		TCTTAAGCTTTGATAAGAGCT	0.517																																							0											0													215	211	212					16																	72094699		2114	4230	6344	SO:0001583	missense	0				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.1131T>A	16.37:g.72094699T>A	ENSP00000348170:p.Phe377Leu		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.F377L	ENST00000355906.5	37	c.1131	CCDS45524.1	16	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984002	0.35036	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.93604	-3.25;-3.25	5.21	2.97	0.34412	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.208559	0.42548	D	0.000688	D	0.94371	0.8190	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.997;0.987	D;D;D;D	0.66196	0.942;0.934;0.934;0.929	D	0.92492	0.6001	10	0.72032	D	0.01	.	6.4656	0.21980	0.0:0.1898:0.0:0.8102	.	199;252;318;377	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	L	377;318;252;353	ENSP00000348170:F377L;ENSP00000381199:F318L	ENSP00000348170:F377L	F	+	3	2	HP	70652200	0.163000	0.22920	1.000000	0.80357	0.879000	0.50718	-0.818000	0.04467	0.454000	0.26884	0.529000	0.55759	TTT	0	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.517	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HP	protein_coding	OTTHUMT00000421680.1	87	98	0	0.00	0	0	T	NM_005143	0	0		72094699	1	no_errors	ENST00000355906	ensembl	human	known	74_37	missense	71	77	7.79	8.33	6	7	SNP	0.999	A	A	72094699	T	A	72094699	3	1	70	1	0	0	0	0	1	0	0	0	7327	1809	63	5	1157	5	HP	16	72094699	Missense_Mutation	SNP	T	TCGA-XU-A92U-01A-11D-A423-09	7055997	72094699	18260054	11	847											
KPNB1	3837	genome.wustl.edu	37	chr17	45747113	45747113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatacagctgcatggactGtaggcagaatttgtgagctg	11	10	14	6	0	0	3	0	1	0	2	0	5	0	4	0	2	4	5	0	2	3	3			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr17:45747113G>A	ENST00000290158.4	+	11	1701	c.1294G>A	c.(1294-1296)Gta>Ata	p.V432I	KPNB1_ENST00000535458.2_Missense_Mutation_p.V287I|KPNB1_ENST00000537679.1_Missense_Mutation_p.V216I|KPNB1_ENST00000540627.1_Missense_Mutation_p.V287I	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	432					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						TGCATGGACTGTAGGCAGAAT	0.453																																							0											0													155	143	147					17																	45747113		2203	4300	6503	SO:0001583	missense	0			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.1294G>A	17.37:g.45747113G>A	ENSP00000290158:p.Val432Ile		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.V432I	ENST00000290158.4	37	c.1294	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589214	0.46110	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.137579	0.49305	D	0.000143	T	0.12263	0.0298	N	0.01522	-0.82	0.27941	N	0.937515	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17048	-1.0382	9	0.31617	T	0.26	-8.3712	19.1057	0.93294	0.0:0.0:1.0:0.0	.	216;432	F5H4R7;Q14974	.;IMB1_HUMAN	I	287;432;287;216	ENSP00000438253:V287I;ENSP00000290158:V432I;ENSP00000438964:V287I;ENSP00000445006:V216I	ENSP00000290158:V432I	V	+	1	0	KPNB1	43102112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.566000	0.73978	2.531000	0.85337	0.650000	0.86243	GTA	0	pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_HEAT_type_2		0.453	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	protein_coding	OTTHUMT00000089755.2	69	157	0	0.00	0	0	G	NM_002265	0	0		45747113	1	no_errors	ENST00000290158	ensembl	human	known	74_37	missense	73	135	9.88	7.53	8	11	SNP	0.998	A	A	45747113	G	A	45747113	3	1	70	1	0	0	0	0	1	0	0	0	8435	1377	48	3	1336	3	KPNB1	17	45747113	Missense_Mutation	SNP	G	TCGA-XU-A92U-01A-11D-A423-09		45747113	35448097	12	848											
OPRD1	4985	genome.wustl.edu	37	chr1	29189517	29189517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcccatccacatcttcGtcatcgtctggacgctggtg	5	10	12	14	4	3	0	1	0	2	0	6	1	4	1	2	3	0	1	2	3	0	1			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr1:29189517G>A	ENST00000234961.2	+	3	1083	c.841G>A	c.(841-843)Gtc>Atc	p.V281I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	281					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|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)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|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 CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCACATCTTCGTCATCGTCTG	0.662																																							0											0													30	26	27					1																	29189517		2201	4298	6499	SO:0001583	missense	0			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.841G>A	1.37:g.29189517G>A	ENSP00000234961:p.Val281Ile		B5B0B8	Missense_Mutation	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_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt	p.V281I	ENST00000234961.2	37	c.841	CCDS329.1	1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176654	0.38413	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.36878	1.23	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.135819	0.49916	D	0.000139	T	0.21103	0.0508	N	0.12853	0.265	0.44018	D	0.996737	B	0.19935	0.04	B	0.20184	0.028	T	0.05937	-1.0855	10	0.20046	T	0.44	.	13.7884	0.63123	0.0:0.0:1.0:0.0	.	281	P41143	OPRD_HUMAN	I	281;233	ENSP00000234961:V281I	ENSP00000234961:V281I	V	+	1	0	OPRD1	29062104	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.926000	0.70070	2.097000	0.63578	0.462000	0.41574	GTC	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Neuropept_B/W_rcpt		0.662	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRD1	protein_coding	OTTHUMT00000010330.1	61	86	0	0.00	0	0	G	NM_000911	0	0		29189517	1	no_errors	ENST00000234961	ensembl	human	known	74_37	missense	20	54	28.57	36.05	8	31	SNP	1	A	A	29189517	G	A	29189517	3	1	71	1	0	0	0	0	1	0	0	0	10884	1145	40	1	851	1	OPRD1	1	29189517	Missense_Mutation	SNP	G	TCGA-XU-A92V-01A-11D-A423-09		29189517	220061104	1	849											
CCDC142	84865	genome.wustl.edu	37	chr2	74708427	74708427	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggaaagagctgctgcaaaAgttcagcagtgccagaggat	14	6	14	7	0	1	2	1	0	0	2	1	5	1	4	1	2	5	5	1	2	3	1			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr2:74708427A>C	ENST00000393965.3	-	3	1577	c.1181T>G	c.(1180-1182)cTt>cGt	p.L394R	TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.L394R|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000410003.1_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	394										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CTGCTGCAAAAGTTCAGCAGT	0.582																																							0											0													104	116	112					2																	74708427		2203	4300	6503	SO:0001583	missense	0			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1181T>G	2.37:g.74708427A>C	ENSP00000377537:p.Leu394Arg		B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	NULL	p.L394R	ENST00000393965.3	37	c.1181		2	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908148	0.52333	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.54071	0.59;0.59	4.74	4.74	0.60224	.	0.000000	0.41938	D	0.000800	T	0.68851	0.3046	M	0.72118	2.19	0.18873	N	0.999989	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.61903	-0.6967	10	0.87932	D	0	-9.4869	10.5546	0.45110	1.0:0.0:0.0:0.0	.	394;394;394	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	R	394	ENSP00000377537:L394R;ENSP00000290418:L394R	ENSP00000290418:L394R	L	-	2	0	CCDC142	74561935	1.000000	0.71417	0.151000	0.22473	0.827000	0.46813	4.278000	0.58946	1.985000	0.57927	0.460000	0.39030	CTT	0	NULL		0.582	CCDC142-003	KNOWN	basic	protein_coding	CCDC142	protein_coding	OTTHUMT00000328391.1	30	115	0	0.86	0	1	A	NM_032779	0	0		74708427	-1	no_errors	ENST00000393965	ensembl	human	known	74_37	missense	12	94	50	21.67	12	26	SNP	0.116	C	C	74708427	A	C	74708427	3	2	71	1	0	0	0	0	1	0	0	0	2776	72	3	5	1078	5	CCDC142	2	74708427	Missense_Mutation	SNP	A	TCGA-XU-A92V-01A-11D-A423-09		74708427	168490946	2	850											
FIGN	55137	genome.wustl.edu	37	chr2	164466135	164466135	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgagatatgctaggctgaAtcttgcagaaagcattttca	12	14	9	6	0	2	3	1	2	1	2	2	4	2	3	0	1	3	4	0	1	4	6			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr2:164466135A>T	ENST00000333129.3	-	3	2521	c.2207T>A	c.(2206-2208)aTt>aAt	p.I736N	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	736					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GCTAGGCTGAATCTTGCAGAA	0.418																																							0											0													65	64	64					2																	164466135		1894	4124	6018	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.2207T>A	2.37:g.164466135A>T	ENSP00000333836:p.Ile736Asn		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I736N	ENST00000333129.3	37	c.2207	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040328	0.35989	.	.	ENSG00000182263	ENST00000333129	D	0.98345	-4.88	6.02	6.02	0.97574	.	0.051104	0.85682	D	0.000000	D	0.98394	0.9466	M	0.91768	3.24	0.80722	D	1	B	0.29862	0.259	B	0.36030	0.216	D	0.98336	1.0536	10	0.72032	D	0.01	-24.5094	16.542	0.84395	1.0:0.0:0.0:0.0	.	736	Q5HY92	FIGN_HUMAN	N	736	ENSP00000333836:I736N	ENSP00000333836:I736N	I	-	2	0	FIGN	164174381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.304000	0.77564	0.528000	0.53228	ATT	0	superfamily_P-loop_NTPase		0.418	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	protein_coding	OTTHUMT00000157220.2	69	184	0	0.00	0	0	A	NM_018086	0	0		164466135	-1	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	50	127	30.14	29.83	22	54	SNP	1	T	T	164466135	A	T	164466135	3	4	71	1	0	0	0	0	1	0	0	0	5891	101	4	5	76	5	FIGN	2	164466135	Missense_Mutation	SNP	A	TCGA-XU-A92V-01A-11D-A423-09	89757708	164466135	78733238	3	851											
HJURP	55355	genome.wustl.edu	37	chr2	234749861	234749861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttggtctttggaagtgatGaagatgaatcgctcttgggc	8	13	15	5	1	2	4	0	3	2	1	3	5	2	5	0	4	0	2	0	4	3	3			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr2:234749861G>A	ENST00000411486.2	-	8	1630	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L	HJURP_ENST00000432087.1_Missense_Mutation_p.S468L|HJURP_ENST00000441687.1_Missense_Mutation_p.S437L|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	522					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)			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)		TGGAAGTGATGAAGATGAATC	0.463																																							0											0													154	152	153					2																	234749861		2203	4300	6503	SO:0001583	missense	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1565C>T	2.37:g.234749861G>A	ENSP00000414109:p.Ser522Leu		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.S522L	ENST00000411486.2	37	c.1565	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764768	0.49574	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.11495	3.07;3.08;3.08;2.77	4.41	1.54	0.23209	.	1.224450	0.06100	N	0.665283	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.40608	-0.9554	10	0.33940	T	0.23	0.0051	6.4859	0.22089	0.3049:0.0:0.6951:0.0	.	437;468;522	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	L	522;468;437;437	ENSP00000414109:S522L;ENSP00000407208:S468L;ENSP00000401944:S437L;ENSP00000393253:S437L	ENSP00000414109:S522L	S	-	2	0	HJURP	234414600	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.119000	0.10676	0.341000	0.23771	-0.302000	0.09304	TCA	0	NULL		0.463	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	protein_coding	OTTHUMT00000130996.6	71	246	0	0.00	0	0	G	NM_018410	0	0		234749861	-1	no_errors	ENST00000411486	ensembl	human	known	74_37	missense	33	159	34	32.20	17	76	SNP	0	A	A	234749861	G	A	234749861	3	1	71	1	0	0	0	0	1	0	0	0	7189	1294	45	3	689	3	HJURP	2	234749861	Missense_Mutation	SNP	G	TCGA-XU-A92V-01A-11D-A423-09	70283726	234749861	8449512	4	852			1	3		5	5	975	G		2.492588e-14
HJURP	55355	genome.wustl.edu	37	chr2	234750245	234750245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcatcaagattatatgttGcactggagtcgaagtaaatc	13	12	8	8	1	2	1	2	0	0	1	4	3	2	2	1	1	1	3	1	1	6	4			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr2:234750245G>C	ENST00000411486.2	-	8	1246	c.1181C>G	c.(1180-1182)gCa>gGa	p.A394G	HJURP_ENST00000432087.1_Missense_Mutation_p.A340G|HJURP_ENST00000441687.1_Missense_Mutation_p.A309G|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	394					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)			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)		ATTATATGTTGCACTGGAGTC	0.393																																							0											0													77	81	79					2																	234750245		2203	4300	6503	SO:0001583	missense	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1181C>G	2.37:g.234750245G>C	ENSP00000414109:p.Ala394Gly		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.A394G	ENST00000411486.2	37	c.1181	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995427	0.35226	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.11385	3.09;3.09;3.09;2.78	3.22	-0.731	0.11151	.	0.924131	0.09111	N	0.847094	T	0.10121	0.0248	L	0.53249	1.67	0.09310	N	1	B;B;B	0.18013	0.025;0.009;0.015	B;B;B	0.12156	0.007;0.007;0.005	T	0.37709	-0.9694	10	0.72032	D	0.01	-0.0517	3.6113	0.08061	0.3624:0.2177:0.4199:0.0	.	309;340;394	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	G	394;340;309;309	ENSP00000414109:A394G;ENSP00000407208:A340G;ENSP00000401944:A309G;ENSP00000393253:A309G	ENSP00000414109:A394G	A	-	2	0	HJURP	234414984	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.315000	0.08081	-0.177000	0.10690	-0.910000	0.02820	GCA	0	NULL		0.393	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	protein_coding	OTTHUMT00000130996.6	63	247	0	0.00	0	0	G	NM_018410	0	0		234750245	-1	no_errors	ENST00000411486	ensembl	human	known	74_37	missense	30	201	26.83	33.33	11	101	SNP	0	C	C	234750245	G	C	234750245	3	2	71	1	0	0	0	0	1	0	0	0	7189	1319	46	5	1073	5	HJURP	2	234750245	Missense_Mutation	SNP	G	TCGA-XU-A92V-01A-11D-A423-09	384	234750245	8449128	5	853			1	3		5	5	975	G		2.492588e-14
HJURP	55355	genome.wustl.edu	37	chr2	234750577	234750577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatgaacgttttggtggaGatgatgcttgatggctttgt	8	16	14	3	1	0	5	0	4	0	1	0	6	0	5	0	3	2	3	0	3	1	4			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr2:234750577G>C	ENST00000411486.2	-	8	914	c.849C>G	c.(847-849)atC>atG	p.I283M	HJURP_ENST00000432087.1_Missense_Mutation_p.I229M|HJURP_ENST00000441687.1_Missense_Mutation_p.I198M|HJURP_ENST00000434039.1_5'UTR	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	283					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)			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)		TTTTGGTGGAGATGATGCTTG	0.473																																							0											0													152	137	142					2																	234750577		2203	4300	6503	SO:0001583	missense	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.849C>G	2.37:g.234750577G>C	ENSP00000414109:p.Ile283Met		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.I283M	ENST00000411486.2	37	c.849	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561716	0.45590	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924;ENST00000454020	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	4.46	4.46	0.54185	Holliday junction recognition protein, HJURP (1);	0.100865	0.43747	D	0.000533	T	0.67221	0.2870	L	0.59436	1.845	0.32626	N	0.522695	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.74067	-0.3784	10	0.87932	D	0	-28.0934	12.924	0.58249	0.0:0.0:1.0:0.0	.	198;229;283	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	M	283;229;198;198;242	ENSP00000414109:I283M;ENSP00000407208:I229M;ENSP00000401944:I198M;ENSP00000393253:I198M;ENSP00000414051:I242M	ENSP00000414109:I283M	I	-	3	3	HJURP	234415316	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	3.817000	0.55668	2.760000	0.94817	0.655000	0.94253	ATC	0	pfam_HJURP		0.473	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	protein_coding	OTTHUMT00000130996.6	45	220	0	0.00	0	0	G	NM_018410	0	0		234750577	-1	no_errors	ENST00000411486	ensembl	human	known	74_37	missense	18	133	40	31.09	12	60	SNP	1	C	C	234750577	G	C	234750577	3	2	71	1	0	0	0	0	1	0	0	0	7189	932	33	5	1405	5	HJURP	2	234750577	Missense_Mutation	SNP	G	TCGA-XU-A92V-01A-11D-A423-09	332	234750577	8448796	6	854			1	3		5	5	975	G		2.492588e-14
HJURP	55355	genome.wustl.edu	37	chr2	234750681	234750681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatgtcatcatcttcaaaggGctggctgcttaagaagctgc	11	11	10	9	0	4	1	3	0	1	1	4	1	4	1	0	2	3	4	0	2	4	2			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr2:234750681G>A	ENST00000411486.2	-	8	810	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	HJURP_ENST00000432087.1_Missense_Mutation_p.P195S|HJURP_ENST00000441687.1_Missense_Mutation_p.P164S|HJURP_ENST00000434039.1_5'UTR	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	249					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)			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)		TCTTCAAAGGGCTGGCTGCTT	0.507																																							0											0													161	144	150					2																	234750681		2203	4300	6503	SO:0001583	missense	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.745C>T	2.37:g.234750681G>A	ENSP00000414109:p.Pro249Ser		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.P249S	ENST00000411486.2	37	c.745	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	G	0.155	-1.087193	0.01873	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924;ENST00000454020	T;T;T;T;T	0.27720	3.42;3.42;3.45;3.14;1.65	4.22	-0.979	0.10276	.	1.490580	0.03918	N	0.282971	T	0.16300	0.0392	N	0.24115	0.695	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	0.14172	-1.0482	10	0.05833	T	0.94	-2.1624	4.0288	0.09700	0.4504:0.1941:0.3555:0.0	.	164;195;249	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	S	249;195;164;164;208	ENSP00000414109:P249S;ENSP00000407208:P195S;ENSP00000401944:P164S;ENSP00000393253:P164S;ENSP00000414051:P208S	ENSP00000414109:P249S	P	-	1	0	HJURP	234415420	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.180000	0.09754	-0.153000	0.11137	-0.302000	0.09304	CCC	0	NULL		0.507	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	protein_coding	OTTHUMT00000130996.6	44	257	0	0.00	0	0	G	NM_018410	0	0		234750681	-1	no_errors	ENST00000411486	ensembl	human	known	74_37	missense	27	191	18.18	27.38	6	72	SNP	0	A	A	234750681	G	A	234750681	3	1	71	1	0	0	0	0	1	0	0	0	7189	1203	42	3	1509	3	HJURP	2	234750681	Missense_Mutation	SNP	G	TCGA-XU-A92V-01A-11D-A423-09	104	234750681	8448692	7	855			1	3		5	5	975	G		2.492588e-14
HJURP	55355	genome.wustl.edu	37	chr2	234750835	234750835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaccaggactctttctggaGatacgactgcagtatcctgg	9	11	10	11	1	3	1	1	0	2	1	4	4	4	2	2	3	2	2	2	3	2	3			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr2:234750835G>C	ENST00000411486.2	-	8	656	c.591C>G	c.(589-591)atC>atG	p.I197M	HJURP_ENST00000432087.1_Missense_Mutation_p.I143M|HJURP_ENST00000441687.1_Missense_Mutation_p.I112M|HJURP_ENST00000434039.1_5'UTR	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	197					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)			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)		TCTTTCTGGAGATACGACTGC	0.453																																							0											0													59	59	59					2																	234750835		2203	4300	6503	SO:0001583	missense	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.591C>G	2.37:g.234750835G>C	ENSP00000414109:p.Ile197Met		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.I197M	ENST00000411486.2	37	c.591	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301012	0.23650	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924;ENST00000454020	T;T;T;T;T	0.34859	3.08;3.09;3.09;2.78;1.34	4.22	2.35	0.29111	.	1.217070	0.06063	N	0.658639	T	0.32734	0.0839	L	0.27053	0.805	0.09310	N	1	B;B;B	0.21753	0.06;0.06;0.036	B;B;B	0.31686	0.134;0.134;0.063	T	0.44605	-0.9317	10	0.72032	D	0.01	-1.4582	10.6462	0.45621	0.0:0.4104:0.5896:0.0	.	112;143;197	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	M	197;143;112;112;156	ENSP00000414109:I197M;ENSP00000407208:I143M;ENSP00000401944:I112M;ENSP00000393253:I112M;ENSP00000414051:I156M	ENSP00000414109:I197M	I	-	3	3	HJURP	234415574	0.002000	0.14202	0.000000	0.03702	0.203000	0.24098	0.917000	0.28665	0.682000	0.31407	0.655000	0.94253	ATC	0	NULL		0.453	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	protein_coding	OTTHUMT00000130996.6	19	213	0	0.00	0	0	G	NM_018410	0	0		234750835	-1	no_errors	ENST00000411486	ensembl	human	known	74_37	missense	9	182	40	24.38	6	59	SNP	0.001	C	C	234750835	G	C	234750835	3	2	71	1	0	0	0	0	1	0	0	0	7189	932	33	5	1663	5	HJURP	2	234750835	Missense_Mutation	SNP	G	TCGA-XU-A92V-01A-11D-A423-09	154	234750835	8448538	8	856			1	3		5	5	975	G		2.492588e-14
PPARGC1A	10891	genome.wustl.edu	37	chr4	23814740	23814740	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggcttgactcatagtaaTagcaggatctgcgccagagg	11	9	13	8	1	2	2	1	1	1	1	2	3	2	3	1	3	2	3	1	3	3	4			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr4:23814740T>C	ENST00000264867.2	-	9	1921	c.1802A>G	c.(1801-1803)tAt>tGt	p.Y601C	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	601	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				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)				CTCATAGTAATAGCAGGATCT	0.507																																					Esophageal Squamous(29;694 744 13796 34866 44181)		0											0													146	140	142					4																	23814740		2203	4300	6503	SO:0001583	missense	0			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.1802A>G	4.37:g.23814740T>C	ENSP00000264867:p.Tyr601Cys		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y601C	ENST00000264867.2	37	c.1802	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	T	6.832	0.522634	0.13066	.	.	ENSG00000109819	ENST00000264867	T	0.43688	0.94	5.7	4.49	0.54785	.	0.355506	0.33401	N	0.004959	T	0.21590	0.0520	N	0.11560	0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04915	-1.0918	10	0.38643	T	0.18	-0.687	6.1143	0.20117	0.0:0.1379:0.1391:0.723	.	601	Q9UBK2	PRGC1_HUMAN	C	601	ENSP00000264867:Y601C	ENSP00000264867:Y601C	Y	-	2	0	PPARGC1A	23423838	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.429000	0.44758	0.957000	0.37930	0.533000	0.62120	TAT	0	NULL		0.507	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	protein_coding	OTTHUMT00000214976.1	54	200	0	0.00	0	0	T	NM_013261	0	0		23814740	-1	no_errors	ENST00000264867	ensembl	human	known	74_37	missense	28	115	48.15	31.95	26	54	SNP	1	C	C	23814740	T	C	23814740	3	2	71	1	0	0	0	0	1	0	0	0	12300	1406	49	3	614	3	PPARGC1A	4	23814740	Missense_Mutation	SNP	T	TCGA-XU-A92V-01A-11D-A423-09		23814740	167339536	9	857											
HLA-DMA	3108	genome.wustl.edu	37	chr6	32920785	32920785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtaacatctgtagcagcGcagctccttggttctgttca	7	13	11	10	1	3	0	1	0	2	0	4	0	4	0	1	2	4	7	1	2	2	5			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr6:32920785G>A	ENST00000374843.4	-	1	114	c.29C>T	c.(28-30)gCg>gTg	p.A10V	HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.A10V|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.A10V|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.A10V	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	10					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						CTGTAGCAGCGCAGCTCCTTG	0.552																																							0											0													210	189	196					6																	32920785		1511	2709	4220	SO:0001583	missense	0				CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.29C>T	6.37:g.32920785G>A	ENSP00000363976:p.Ala10Val		Q29639|Q29640	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A10V	ENST00000374843.4	37	c.29	CCDS4761.1	6	.	.	.	.	.	.	.	.	.	.	G	9.154	1.017000	0.19355	.	.	ENSG00000248993;ENSG00000204257;ENSG00000204257;ENSG00000204257	ENST00000429234;ENST00000395305;ENST00000395303;ENST00000374843	T;T;T;T	0.19394	2.15;5.36;4.77;5.79	4.18	-4.08	0.03963	.	1.667580	0.03130	N	0.165003	T	0.03095	0.0091	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.003	T	0.19353	-1.0308	10	0.06236	T	0.91	.	7.2692	0.26248	0.6285:0.1408:0.2307:0.0	.	10;10	P28067;Q31604	DMA_HUMAN;.	V	10	ENSP00000412457:A10V;ENSP00000378716:A10V;ENSP00000378714:A10V;ENSP00000363976:A10V	ENSP00000363976:A10V	A	-	2	0	XXbac-BPG181M17.5;HLA-DMA	33028763	0.000000	0.05858	0.026000	0.17262	0.057000	0.15508	-1.757000	0.01811	-1.046000	0.03246	-0.148000	0.13756	GCG	0	NULL		0.552	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMA	protein_coding	OTTHUMT00000076325.2	58	181	0	0.00	0	0	G	NM_006120	0	0		32920785	-1	no_errors	ENST00000374843	ensembl	human	known	74_37	missense	36	132	33.33	35.44	18	73	SNP	0.043	A	A	32920785	G	A	32920785	3	1	71	1	0	0	0	0	1	0	0	0	7198	1087	38	1	776	1	HLA-DMA	6	32920785	Missense_Mutation	SNP	G	TCGA-XU-A92V-01A-11D-A423-09		32920785	138194282	10	858											
RFX6	222546	genome.wustl.edu	37	chr6	117246707	117246707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttccagcgacgctgtgaaGaatgaaagccacgtggagac	12	7	13	9	3	0	4	0	2	0	2	1	6	1	4	2	1	2	2	2	1	3	1			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr6:117246707G>C	ENST00000332958.2	+	16	1786	c.1770G>C	c.(1768-1770)aaG>aaC	p.K590N		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	590					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						ACGCTGTGAAGAATGAAAGCC	0.532																																							0											0													124	118	120					6																	117246707		2203	4300	6503	SO:0001583	missense	0			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.1770G>C	6.37:g.117246707G>C	ENSP00000332208:p.Lys590Asn		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.K590N	ENST00000332958.2	37	c.1770	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839592	0.51057	.	.	ENSG00000185002	ENST00000332958	T	0.62364	0.03	5.95	4.16	0.48862	.	0.046676	0.85682	D	0.000000	T	0.63486	0.2515	M	0.62723	1.935	0.51482	D	0.99992	D	0.89917	1.0	D	0.71870	0.975	T	0.67086	-0.5759	10	0.59425	D	0.04	-16.0139	7.5312	0.27685	0.3528:0.0:0.6472:0.0	.	590	Q8HWS3	RFX6_HUMAN	N	590	ENSP00000332208:K590N	ENSP00000332208:K590N	K	+	3	2	RFX6	117353400	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	3.385000	0.52485	0.840000	0.34995	0.491000	0.48974	AAG	0	NULL		0.532	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	protein_coding	OTTHUMT00000041970.2	34	154	0	0.00	0	0	G	NM_173560	0	0		117246707	1	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	17	113	15	27.10	3	42	SNP	1	C	C	117246707	G	C	117246707	3	2	71	1	0	0	0	0	1	0	0	0	13267	933	33	5	1832	5	RFX6	6	117246707	Missense_Mutation	SNP	G	TCGA-XU-A92V-01A-11D-A423-09	84325922	117246707	53868360	11	859											
UTRN	7402	genome.wustl.edu	37	chr6	144744742	144744742	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataacgtcaacagagtgctgCaggttttacatcagaacaat	15	10	8	8	1	2	2	2	0	0	2	2	2	2	2	0	1	6	3	0	1	5	3			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr6:144744742C>T	ENST00000367545.3	+	4	292	c.292C>T	c.(292-294)Cag>Tag	p.Q98*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	98	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		CAGAGTGCTGCAGGTTTTACA	0.413																																							0											0													196	174	181					6																	144744742		2203	4300	6503	SO:0001587	stop_gained	0			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.292C>T	6.37:g.144744742C>T	ENSP00000356515:p.Gln98*		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_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.Q98*	ENST00000367545.3	37	c.292	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.592969	0.96602	.	.	ENSG00000152818	ENST00000367529;ENST00000367545;ENST00000421035	.	.	.	5.61	5.61	0.85477	.	0.000000	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.6481	0.95790	0.0:1.0:0.0:0.0	.	.	.	.	X	98;98;103	.	ENSP00000356499:Q98X	Q	+	1	0	UTRN	144786435	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.270000	0.78493	2.651000	0.90000	0.557000	0.71058	CAG	0	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain		0.413	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	protein_coding	OTTHUMT00000042551.1	46	282	0	0.00	0	0	C		0	0		144744742	1	no_errors	ENST00000367545	ensembl	human	known	74_37	nonsense	48	262	9.43	5.42	5	15	SNP	1	T	T	144744742	C	T	144744742	4	4	71	1	0	0	0	0	0	1	0	0	17100	711	25	3	306	3	UTRN	6	144744742	Nonsense_Mutation	SNP	C	TCGA-XU-A92V-01A-11D-A423-09	27498035	144744742	26370325	12	860											
C7orf11	136647	genome.wustl.edu	37	chr7	40173957	40173957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccccccgggaagctgccGccgtgtcgcggagagtgact	5	5	16	15	6	0	2	0	1	0	1	1	4	0	3	5	3	2	1	5	3	1	0			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr7:40173957G>A	ENST00000306984.6	-	1	301	c.210C>T	c.(208-210)ggC>ggT	p.G70G	C7orf10_ENST00000540834.1_5'Flank|C7orf10_ENST00000309930.5_5'Flank|C7orf10_ENST00000401647.2_5'Flank|C7orf10_ENST00000335693.4_5'Flank	NM_138701.3	NP_619646.1	Q8TAP9	MPLKI_HUMAN	M-phase specific PLK1 interacting protein	70					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)											GGAAGCTGCCGCCGTGTCGCG	0.731																																							0											0													5	6	5					7																	40173957		2061	4102	6163	SO:0001819	synonymous_variant	0			AX048113	CCDS5463.1	7p14	2014-09-17	2012-03-01	2012-03-01	ENSG00000168303	ENSG00000168303			16002	protein-coding gene	gene with protein product	tricothiodystrophy, non-photosensitive 1	609188	"chromosome 7 open reading frame 11"	C7orf11		11829489	Standard	NM_138701		Approved	ORF20, TTDN1	uc003thl.4	Q8TAP9	OTTHUMG00000128797	ENST00000306984.6:c.210C>T	7.37:g.40173957G>A				Silent	SNP	NULL	p.G70	ENST00000306984.6	37	c.210	CCDS5463.1	7																																																																																			0	NULL		0.731	MPLKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPLKIP	protein_coding	OTTHUMT00000250729.3	19	61	0	0.00	0	0	G	NM_138701	0	0		40173957	-1	no_errors	ENST00000306984	ensembl	human	known	74_37	silent	8	57	52.94	44.66	9	46	SNP	0.98	A	A	40173957	G	A	40173957	2	1	71	1	0	0	0	0	0	0	0	1	2377	1074	38	1		1	C7orf11	7	40173957	Silent	SNP	G	TCGA-XU-A92V-01A-11D-A423-09		40173957	118964706	13	861											
COBL	23242	genome.wustl.edu	37	chr7	51287490	51287490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaggcaggaccacggtgaCgtccatggtgctggccctca	8	7	13	13	2	1	1	1	1	0	0	2	2	2	2	3	5	1	2	3	5	1	1			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr7:51287490C>T	ENST00000265136.7	-	2	358	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	COBL_ENST00000395542.2_Missense_Mutation_p.V65I|COBL_ENST00000441453.1_Missense_Mutation_p.V65I|COBL_ENST00000395540.2_Missense_Mutation_p.V65I	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	65					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)					ACCACGGTGACGTCCATGGTG	0.627																																					NSCLC(189;2119 2138 12223 30818 34679)		0											0													75	73	74					7																	51287490		2203	4300	6503	SO:0001583	missense	0			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.193G>A	7.37:g.51287490C>T	ENSP00000265136:p.Val65Ile		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.V65I	ENST00000265136.7	37	c.193	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046929	0.36085	.	.	ENSG00000106078	ENST00000265136;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	T;T	0.11712	2.79;2.75	5.73	-3.95	0.04118	Cordon-bleu domain (1);	0.793803	0.10687	N	0.645695	T	0.04861	0.0131	N	0.17674	0.51	0.09310	N	1	B;B;B;B	0.27450	0.179;0.009;0.179;0.17	B;B;B;B	0.24394	0.011;0.009;0.024;0.053	T	0.45600	-0.9250	10	0.07990	T	0.79	.	8.2842	0.31920	0.0:0.6833:0.1379:0.1788	.	65;65;65;65	O75128-3;O75128-5;O75128-7;O75128	.;.;.;COBL_HUMAN	I	65;65;65;65;49	ENSP00000265136:V65I;ENSP00000378912:V65I	ENSP00000265136:V65I	V	-	1	0	COBL	51254984	0.001000	0.12720	0.010000	0.14722	0.620000	0.37586	-1.012000	0.03649	-0.572000	0.06006	0.655000	0.94253	GTC	0	pfam_Cordon-bleu_ubiquitin_domain		0.627	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	protein_coding	OTTHUMT00000342682.1	37	60	0	0.00	0	0	C	NM_015198	0	0		51287490	-1	no_errors	ENST00000395542	ensembl	human	known	74_37	missense	18	69	33.33	26.60	9	25	SNP	0.107	T	T	51287490	C	T	51287490	3	4	71	1	0	0	0	0	1	0	0	0	3653	536	19	1	3640	1	COBL	7	51287490	Missense_Mutation	SNP	C	TCGA-XU-A92V-01A-11D-A423-09	11113533	51287490	107851173	14	862											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	350	127	0	0.78	0	1	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	238	97	30.41	34.46	104	51	SNP	1	A	A	74146970	T	A	74146970	3	1	71	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-XU-A92V-01A-11D-A423-09	22859480	74146970	84991693	15	863											
DGKI	9162	genome.wustl.edu	37	chr7	137330273	137330273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgcacccagtgatgaCgtacaaaattctgtgggaaa	12	9	11	9	1	1	2	0	2	1	0	1	3	1	3	2	1	2	2	2	1	4	2	rs148415050		TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr7:137330273C>T	ENST00000288490.5	-	6	749	c.749G>A	c.(748-750)cGt>cAt	p.R250H	DGKI_ENST00000446122.1_Missense_Mutation_p.R250H|DGKI_ENST00000424189.2_Missense_Mutation_p.R250H|DGKI_ENST00000453654.2_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	250					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						CCAGTGATGACGTACAAAATT	0.483																																							0											0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	60	55	56		749	5.6	1	7	dbSNP_134	56	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DGKI	NM_004717.2	29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	250/1066	137330273	4,13002	2203	4300	6503	SO:0001583	missense	0			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.749G>A	7.37:g.137330273C>T	ENSP00000288490:p.Arg250His		A4D1Q9|Q9NZ49	Missense_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.R250H	ENST00000288490.5	37	c.749	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741538	0.69304	2.27E-4	3.49E-4	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.34667	1.35;1.55	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	L	0.49126	1.545	0.58432	D	0.999999	D	0.65815	0.995	P	0.52159	0.691	T	0.11792	-1.0573	10	0.26408	T	0.33	.	16.6104	0.84881	0.0:1.0:0.0:0.0	.	250	O75912	DGKI_HUMAN	H	198;250;250;250	ENSP00000288490:R250H;ENSP00000399131:R250H	ENSP00000288490:R250H	R	-	2	0	DGKI	136980813	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.527000	0.67123	2.665000	0.90641	0.655000	0.94253	CGT	0	NULL		0.483	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	protein_coding	OTTHUMT00000341286.3	59	139	0	0.00	0	0	C	NM_004717	rs148415050	C->T		137330273	-1	no_errors	ENST00000288490	ensembl	human	known	74_37	missense	33	104	28.26	36.20	13	59	SNP	1	T	T	137330273	C	T	137330273	3	4	71	1	0	0	0	0	1	0	0	0	4471	536	19	1	2564	1	DGKI	7	137330273	Missense_Mutation	SNP	C	TCGA-XU-A92V-01A-11D-A423-09	63183303	137330273	21808390	16	864											
NPR2	4882	genome.wustl.edu	37	chr9	35808516	35808516	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcaatcaggtggagacgaTtggggatgcttacatggtgg	9	11	15	6	1	2	1	2	0	1	1	3	4	2	2	0	6	2	1	0	6	2	2	rs369313283		TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr9:35808516T>C	ENST00000342694.2	+	19	2978	c.2723T>C	c.(2722-2724)aTt>aCt	p.I908T	SPAG8_ENST00000479751.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	908	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				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)	GTGGAGACGATTGGGGATGCT	0.478													T|||	1	0.000199681	0	0	5008	,	,		21937	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0								T	THR/ILE,	0,4406		0,0,2203	82	74	76		2723,	5.6	1	9		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	NPR2,SPAG8	NM_003995.3,NM_172312.1	89,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,	908/1048,	35808516	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2723T>C	9.37:g.35808516T>C	ENSP00000341083:p.Ile908Thr		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.I908T	ENST00000342694.2	37	c.2723	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370367	0.82573	0.0	1.16E-4	ENSG00000159899	ENST00000342694	D	0.85339	-1.97	5.63	5.63	0.86233	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.43919	D	0.000520	D	0.93963	0.8067	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.95220	0.8333	10	0.87932	D	0	.	14.674	0.68964	0.0:0.0:0.0:1.0	.	908;908	P20594-2;P20594	.;ANPRB_HUMAN	T	908	ENSP00000341083:I908T	ENSP00000341083:I908T	I	+	2	0	NPR2	35798516	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	7.959000	0.87885	2.130000	0.65690	0.533000	0.62120	ATT	0	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.478	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	protein_coding	OTTHUMT00000052345.1	11	312	0	0.00	0	0	T		rs369313283	T->C		35808516	1	no_errors	ENST00000342694	ensembl	human	known	74_37	missense	7	256	30	8.54	3	24	SNP	1	C	C	35808516	T	C	35808516	3	2	71	1	0	0	0	0	1	0	0	0	10595	1493	52	3	2797	3	NPR2	9	35808516	Missense_Mutation	SNP	T	TCGA-XU-A92V-01A-11D-A423-09		35808516	105404915	17	865											
DMBT1	1755	genome.wustl.edu	37	chr10	124390692	124390692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccccatcaccctggacGatgtagagtgctcagggacg	8	7	13	13	2	2	1	2	0	0	1	2	4	2	3	3	3	1	2	3	3	1	1	rs369454959		TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr10:124390692G>T	ENST00000338354.3	+	46	5960	c.5854G>T	c.(5854-5856)Gat>Tat	p.D1952Y	DMBT1_ENST00000368909.3_Missense_Mutation_p.D1952Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1324Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1942Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1324Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.D672Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1942Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1952	SRCR 14. {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)	p.D1952N(2)|p.D2081N(1)		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)				CACCCTGGACGATGTAGAGTG	0.557																																					Ovarian(182;93 2026 18125 22222 38972)		0											3	Substitution - Missense(3)	lung(3)											139	138	139					10																	124390692		2040	4189	6229	SO:0001583	missense	0				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.5854G>T	10.37:g.124390692G>T	ENSP00000342210:p.Asp1952Tyr		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.D1952Y	ENST00000338354.3	37	c.5854		10	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017985	0.54576	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.41	3.53	0.40419	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.63058	0.2479	M	0.81614	2.55	0.33986	D	0.648518	D;D;D;D;D;D;D	0.89917	0.987;1.0;1.0;1.0;0.999;0.999;0.986	D;D;D;D;D;D;D	0.91635	0.949;0.998;0.966;0.999;0.968;0.999;0.91	T	0.71547	-0.4560	9	0.37606	T	0.19	.	11.2813	0.49197	0.2075:0.0:0.7925:0.0	.	672;1932;1201;2081;1324;1942;1952	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	Y	1952;2081;1952;1952;1952;1952;1324;1942;1324;1324;1952;1942;1324;98;672	ENSP00000342210:D1952Y;ENSP00000343175:D1942Y;ENSP00000327747:D1324Y;ENSP00000357905:D1952Y;ENSP00000357951:D1942Y;ENSP00000357952:D1324Y;ENSP00000352593:D672Y	ENSP00000331522:D1324Y	D	+	1	0	DMBT1	124380682	0.003000	0.15002	0.006000	0.13384	0.002000	0.02628	0.058000	0.14301	0.629000	0.30376	-0.136000	0.14681	GAT	0	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.557	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	protein_coding	OTTHUMT00000050792.2	49	177	2	0.00	1	0	G	NM_004406	0	0		124390692	1	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	40	151	34.43	28.10	21	59	SNP	0.794	T	T	124390692	G	T	124390692	3	4	71	1	0	0	0	0	1	0	0	0	4577	1058	37	5	6036	5	DMBT1	10	124390692	Missense_Mutation	SNP	G	TCGA-XU-A92V-01A-11D-A423-09		124390692	11144055	18	866											
PRR13	54458	genome.wustl.edu	37	chr12	53837543	53837543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaaagcaccacaagtacCacaagcatggcaaggtcagt	17	4	8	12	0	1	0	1	0	0	0	1	0	1	0	3	2	3	4	3	2	6	1			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr12:53837543C>T	ENST00000429243.2	+	3	596	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	RP11-793H13.8_ENST00000547717.1_RNA|PRR13_ENST00000549135.1_Missense_Mutation_p.H130Y|PRR13_ENST00000549581.1_Missense_Mutation_p.H80Y|PRR13_ENST00000549068.1_3'UTR|PRR13_ENST00000379786.4_Missense_Mutation_p.H80Y|PRR13_ENST00000547368.1_Missense_Mutation_p.H144Y|PRR13_ENST00000551003.1_Missense_Mutation_p.H98Y|PCBP2_ENST00000541275.1_5'UTR|PRR13_ENST00000546581.1_Missense_Mutation_p.H34Y|PRR13_ENST00000549740.1_Missense_Mutation_p.H130Y|PRR13_ENST00000549924.1_Missense_Mutation_p.H130Y	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	130	His-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						ccacaagtaccacaagcaTGG	0.507																																							0											0													47	37	41					12																	53837543		2203	4300	6503	SO:0001583	missense	0			AF217517	CCDS31811.1, CCDS44899.1	12q13.13	2014-05-28			ENSG00000205352	ENSG00000205352			24528	protein-coding gene	gene with protein product		610459				11230166	Standard	NM_018457		Approved	FLJ23818, DKFZP564J157	uc001scz.4	Q9NZ81	OTTHUMG00000170049	ENST00000429243.2:c.388C>T	12.37:g.53837543C>T	ENSP00000412064:p.His130Tyr		Q0V8U0|Q6FIG7|Q6MZP8|Q6NXQ6|Q6PKF9	Missense_Mutation	SNP	NULL	p.H130Y	ENST00000429243.2	37	c.388	CCDS44899.1	12	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412958	0.25465	.	.	ENSG00000205352	ENST00000429243;ENST00000549924;ENST00000551003;ENST00000549740;ENST00000546581;ENST00000549581;ENST00000547368;ENST00000379786;ENST00000549135	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	T	0.67970	0.2950	L	0.46819	1.47	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.78314	0.991;0.991	T	0.70506	-0.4853	8	0.87932	D	0	.	12.2674	0.54686	0.0:1.0:0.0:0.0	.	130;80	Q9NZ81;Q9NZ81-2	PRR13_HUMAN;.	Y	130;130;98;130;34;80;144;80;130	.	ENSP00000369112:H80Y	H	+	1	0	PRR13	52123810	0.993000	0.37304	0.999000	0.59377	0.451000	0.32288	3.621000	0.54210	2.342000	0.79632	0.655000	0.94253	CAC	0	NULL		0.507	PRR13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRR13	protein_coding	OTTHUMT00000407055.1	27	101	0	0.00	0	0	C	NM_018457	0	0		53837543	1	no_errors	ENST00000429243	ensembl	human	known	74_37	missense	19	56	17.39	38.46	4	35	SNP	0.999	T	T	53837543	C	T	53837543	3	4	71	1	0	0	0	0	1	0	0	0	12585	594	21	3	394	3	PRR13	12	53837543	Missense_Mutation	SNP	C	TCGA-XU-A92V-01A-11D-A423-09		53837543	80014352	19	867											
ACACB	32	genome.wustl.edu	37	chr12	109637257	109637257	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgagaaggagaacgAtcctacagtcctgagatccc	11	10	11	9	1	0	3	0	2	0	3	3	7	3	3	3	1	2	1	3	1	3	2			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr12:109637257A>C	ENST00000338432.7	+	18	2797	c.2678A>C	c.(2677-2679)gAt>gCt	p.D893A	ACACB_ENST00000377854.5_Missense_Mutation_p.D893A|ACACB_ENST00000377848.3_Missense_Mutation_p.D893A			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	893	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				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)	AAGGAGAACGATCCTACAGTC	0.557																																							0											0													150	137	141					12																	109637257		2203	4300	6503	SO:0001583	missense	0			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.2678A>C	12.37:g.109637257A>C	ENSP00000341044:p.Asp893Ala		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.D893A	ENST00000338432.7	37	c.2678	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659164	0.67586	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	D;D;D	0.82984	-1.67;-1.67;-1.67	5.42	5.42	0.78866	Single hybrid motif (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.91510	3.215	0.80722	D	1	D	0.62365	0.991	P	0.56127	0.792	D	0.93163	0.6559	10	0.87932	D	0	.	15.4121	0.74933	1.0:0.0:0.0:0.0	.	893	O00763	ACACB_HUMAN	A	893;893;893;124	ENSP00000341044:D893A;ENSP00000367079:D893A;ENSP00000367085:D893A	ENSP00000341044:D893A	D	+	2	0	ACACB	108121640	1.000000	0.71417	0.092000	0.20876	0.340000	0.28889	9.172000	0.94808	2.181000	0.69327	0.477000	0.44152	GAT	0	superfamily_Single_hybrid_motif		0.557	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	protein_coding	OTTHUMT00000403077.1	37	171	0	0.00	0	0	A	NM_001093	0	0		109637257	1	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	16	142	33.33	28.64	8	57	SNP	1	C	C	109637257	A	C	109637257	3	2	71	1	0	0	0	0	1	0	0	0	107	333	12	5	2744	5	ACACB	12	109637257	Missense_Mutation	SNP	A	TCGA-XU-A92V-01A-11D-A423-09	55799714	109637257	24214638	20	868											
SLITRK1	114798	genome.wustl.edu	37	chr13	84454909	84454909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtctttaccctgcagtctgGtgggggcttcgcagaccact	5	11	13	12	1	2	1	0	0	2	1	3	1	2	1	2	4	2	3	2	4	1	3			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr13:84454909G>T	ENST00000377084.2	-	1	1619	c.734C>A	c.(733-735)aCc>aAc	p.T245N		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	245	LRRCT 1.				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)		CTGCAGTCTGGTGGGGGCTTC	0.547																																							0											0													60	63	62					13																	84454909		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.734C>A	13.37:g.84454909G>T	ENSP00000366288:p.Thr245Asn		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T245N	ENST00000377084.2	37	c.734	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610431	0.28712	.	.	ENSG00000178235	ENST00000377084	T	0.42513	0.97	4.71	4.71	0.59529	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34250	0.0891	N	0.25380	0.74	0.53688	D	0.99997	P	0.38711	0.643	B	0.42188	0.379	T	0.05370	-1.0889	10	0.13853	T	0.58	-15.1213	16.3895	0.83528	0.0:0.0:1.0:0.0	.	245	Q96PX8	SLIK1_HUMAN	N	245	ENSP00000366288:T245N	ENSP00000366288:T245N	T	-	2	0	SLITRK1	83352910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.880000	0.56145	2.456000	0.83038	0.555000	0.69702	ACC	0	smart_Cys-rich_flank_reg_C		0.547	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	protein_coding	OTTHUMT00000045396.1	81	195	0	0.00	0	0	G	NM_052910	0	0		84454909	-1	no_errors	ENST00000377084	ensembl	human	known	74_37	missense	61	156	20.78	15.68	16	29	SNP	1	T	T	84454909	G	T	84454909	3	4	71	1	0	0	0	0	1	0	0	0	14742	1261	44	5	1360	5	SLITRK1	13	84454909	Missense_Mutation	SNP	G	TCGA-XU-A92V-01A-11D-A423-09		84454909	30714969	21	869											
FLJ10357	55701	genome.wustl.edu	37	chr14	21542584	21542584	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtcctggggatgggcacaAtgcccctgtggaaggacctg	8	7	16	10	0	0	0	0	0	0	0	1	4	1	3	4	5	1	1	4	5	2	0			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr14:21542584A>G	ENST00000298694.4	+	3	822	c.695A>G	c.(694-696)aAt>aGt	p.N232S	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.N232S			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	232						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GATGGGCACAATGCCCCTGTG	0.647																																							0											0													36	43	41					14																	21542584		2203	4300	6503	SO:0001583	missense	0				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.695A>G	14.37:g.21542584A>G	ENSP00000298694:p.Asn232Ser		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.N232S	ENST00000298694.4	37	c.695	CCDS32041.1	14	.	.	.	.	.	.	.	.	.	.	A	14.46	2.540795	0.45280	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02236	4.44;4.38	5.03	5.03	0.67393	.	0.000000	0.48767	D	0.000180	T	0.02156	0.0067	L	0.27053	0.805	0.28918	N	0.892279	B;B	0.29136	0.073;0.234	B;B	0.32090	0.066;0.14	T	0.37686	-0.9695	10	0.31617	T	0.26	.	8.2589	0.31773	0.8229:0.0:0.0:0.1771	.	232;232	Q8TER5;G3V3N2	ARH40_HUMAN;.	S	232	ENSP00000298694:N232S;ENSP00000298693:N232S	ENSP00000298693:N232S	N	+	2	0	ARHGEF40	20612424	0.982000	0.34865	1.000000	0.80357	0.992000	0.81027	2.216000	0.42871	1.896000	0.54893	0.459000	0.35465	AAT	0	NULL		0.647	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	protein_coding	OTTHUMT00000413122.1	39	79	0	0.00	0	0	A		0	0		21542584	1	no_errors	ENST00000298694	ensembl	human	known	74_37	missense	19	76	26.92	32.14	7	36	SNP	0.978	G	G	21542584	A	G	21542584	3	3	71	1	0	0	0	0	1	0	0	0	5926	101	4	3	705	3	FLJ10357	14	21542584	Missense_Mutation	SNP	A	TCGA-XU-A92V-01A-11D-A423-09		21542584	85806956	22	870											
N4BP1	9683	genome.wustl.edu	37	chr16	48594885	48594885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagaaagggttgagcaatTtggcttagaatgaggagaac	14	9	15	3	0	0	5	0	2	0	3	0	7	0	5	0	4	2	3	0	4	5	3			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr16:48594885T>C	ENST00000262384.3	-	2	1905	c.1669A>G	c.(1669-1671)Aat>Gat	p.N557D	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	557					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)				GTTGAGCAATTTGGCTTAGAA	0.448																																							0											0													132	132	132					16																	48594885		1960	4154	6114	SO:0001583	missense	0			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1669A>G	16.37:g.48594885T>C	ENSP00000262384:p.Asn557Asp		A7MD49|Q2YDX1	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.N557D	ENST00000262384.3	37	c.1669	CCDS45479.1	16	.	.	.	.	.	.	.	.	.	.	T	9.194	1.026894	0.19512	.	.	ENSG00000102921	ENST00000262384	T	0.46451	0.87	6.08	2.69	0.31865	.	0.660669	0.15577	N	0.255125	T	0.22513	0.0543	N	0.24115	0.695	0.09310	N	1	B	0.23735	0.09	B	0.16722	0.016	T	0.20706	-1.0267	10	0.13470	T	0.59	-10.6964	4.9896	0.14207	0.0:0.3039:0.1644:0.5317	.	557	O75113	N4BP1_HUMAN	D	557	ENSP00000262384:N557D	ENSP00000262384:N557D	N	-	1	0	N4BP1	47152386	0.000000	0.05858	0.008000	0.14137	0.833000	0.47200	0.346000	0.19997	0.548000	0.28955	0.482000	0.46254	AAT	0	NULL		0.448	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP1	protein_coding	OTTHUMT00000429920.1	40	339	0	0.00	0	0	T	NM_014664	0	0		48594885	-1	no_errors	ENST00000262384	ensembl	human	known	74_37	missense	25	236	35.9	33.52	14	119	SNP	0	C	C	48594885	T	C	48594885	3	2	71	1	0	0	0	0	1	0	0	0	10109	1841	64	3	1045	3	N4BP1	16	48594885	Missense_Mutation	SNP	T	TCGA-XU-A92V-01A-11D-A423-09		48594885	41759868	23	871											
FCAR	2204	genome.wustl.edu	37	chr19	55396876	55396876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggcagggcgctatcagtgCcaatataggatagggcacta	13	7	13	8	1	1	0	1	0	0	0	1	1	1	1	1	4	1	3	1	4	7	5			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr19:55396876C>T	ENST00000355524.3	+	3	310	c.300C>T	c.(298-300)tgC>tgT	p.C100C	FCAR_ENST00000391723.3_Silent_p.C88C|FCAR_ENST00000359272.4_Silent_p.C88C|FCAR_ENST00000391726.3_Silent_p.C88C|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Silent_p.C100C|FCAR_ENST00000391724.3_Silent_p.C88C|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000469767.1_Silent_p.C100C|FCAR_ENST00000391725.3_Silent_p.C100C	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	100	Ig-like C2-type 1.				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)		GCTATCAGTGCCAATATAGGA	0.507																																							0											0													87	76	80					19																	55396876		2203	4300	6503	SO:0001819	synonymous_variant	0			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.300C>T	19.37:g.55396876C>T			Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Silent	SNP	smart_Ig_sub	p.C100	ENST00000355524.3	37	c.300	CCDS12907.1	19																																																																																			0	smart_Ig_sub		0.507	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCAR	protein_coding	OTTHUMT00000141243.1	35	139	0	0.00	0	0	C	NM_002000	0	0		55396876	1	no_errors	ENST00000355524	ensembl	human	known	74_37	silent	13	128	31.58	32.28	6	61	SNP	0.011	T	T	55396876	C	T	55396876	2	4	71	1	0	0	0	0	0	0	0	1	5773	747	26	3		3	FCAR	19	55396876	Silent	SNP	C	TCGA-XU-A92V-01A-11D-A423-09		55396876	3732107	24	872											
NLRP5	126206	genome.wustl.edu	37	chr19	56539531	56539531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcctcgtgagcgaagaCgtaaggaggccactggaggt	9	8	16	8	3	0	2	0	1	0	1	1	5	0	4	2	5	1	1	2	5	2	2			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr19:56539531C>T	ENST00000390649.3	+	7	1932	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	644					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)		TGAGCGAAGACGTAAGGAGGC	0.552																																							0											0													61	63	62					19																	56539531		1976	4149	6125	SO:0001819	synonymous_variant	0			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.1932C>T	19.37:g.56539531C>T			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.D644	ENST00000390649.3	37	c.1932	CCDS12938.1	19																																																																																			0	NULL		0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	protein_coding	OTTHUMT00000313735.1	36	125	0	0.00	0	0	C	NM_153447	0	0		56539531	1	no_errors	ENST00000390649	ensembl	human	known	74_37	silent	24	88	20	34.56	6	47	SNP	0	T	T	56539531	C	T	56539531	2	4	71	1	0	0	0	0	0	0	0	1	10480	535	19	1		1	NLRP5	19	56539531	Silent	SNP	C	TCGA-XU-A92V-01A-11D-A423-09	1142655	56539531	2589452	25	873											
PMEPA1	56937	genome.wustl.edu	37	chr20	56227302	56227302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcggcggcccctccatgCgcccgccgctgccgtagcac	3	5	14	19	6	0	0	0	0	0	0	1	0	1	0	6	3	3	3	6	3	1	1			TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr20:56227302C>T	ENST00000341744.3	-	4	990	c.671G>A	c.(670-672)cGc>cAc	p.R224H	PMEPA1_ENST00000395816.3_Missense_Mutation_p.R174H|PMEPA1_ENST00000395814.1_Missense_Mutation_p.R174H|PMEPA1_ENST00000265626.4_Missense_Mutation_p.R174H|PMEPA1_ENST00000347215.4_Missense_Mutation_p.R189H	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	224					androgen receptor signaling pathway (GO:0030521)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCCCTCCATGCGCCCGCCGCT	0.692																																							0											0													15	18	17					20																	56227302		2196	4297	6493	SO:0001583	missense	0			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"solid tumor-associated 1"	606564	"transmembrane, prostate androgen induced RNA"	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.671G>A	20.37:g.56227302C>T	ENSP00000345826:p.Arg224His		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	NULL	p.R224H	ENST00000341744.3	37	c.671	CCDS13463.1	20	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010869	0.93346	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.54866	0.55;0.59;0.6;0.6;0.6;0.62	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.71592	0.3358	M	0.64170	1.965	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71510	-0.4571	10	0.51188	T	0.08	-47.2292	19.3086	0.94175	0.0:1.0:0.0:0.0	.	189;224	Q5JY37;Q969W9	.;PMEPA_HUMAN	H	224;189;174;174;174;196	ENSP00000345826:R224H;ENSP00000344014:R189H;ENSP00000379161:R174H;ENSP00000265626:R174H;ENSP00000379159:R174H;ENSP00000401506:R196H	ENSP00000265626:R174H	R	-	2	0	PMEPA1	55660708	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.650000	0.67944	2.555000	0.86185	0.650000	0.86243	CGC	0	NULL		0.692	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEPA1	protein_coding	OTTHUMT00000079858.2	32	17	0	0.00	0	0	C	NM_020182	0	0		56227302	-1	no_errors	ENST00000341744	ensembl	human	known	74_37	missense	20	16	23.08	20.00	6	4	SNP	1	T	T	56227302	C	T	56227302	3	4	71	1	0	0	0	0	1	0	0	0	12132	768	27	1	196	1	PMEPA1	20	56227302	Missense_Mutation	SNP	C	TCGA-XU-A92V-01A-11D-A423-09		56227302	6798218	26	874											
CSF2RB	1439	genome.wustl.edu	37	chr22	37334245	37334245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgaacccaggggaaCgcccggcagatgtgtcccca	8	6	12	15	2	0	2	0	1	0	1	2	3	2	3	5	3	2	1	5	3	2	0	rs544020050	byFrequency	TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chr22:37334245C>T	ENST00000403662.3	+	14	2617	c.2395C>T	c.(2395-2397)Cgc>Tgc	p.R799C	CSF2RB_ENST00000262825.5_Missense_Mutation_p.R805C|CSF2RB_ENST00000536485.1_Missense_Mutation_p.R746C|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R805C			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	799					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)	CCCAGGGGAACGCCCGGCAGA	0.657													C|||	2	0.000399361	8e-04	0	5008	,	,		16191	0.001		0	False		,,,				2504	0						0.9996,0.0003994											0													62	65	64					22																	37334245		2203	4300	6503	SO:0001583	missense	0			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.2395C>T	22.37:g.37334245C>T	ENSP00000384053:p.Arg799Cys		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.R805C	ENST00000403662.3	37	c.2413	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241180	0.39598	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91792	-2.4;-2.91;-2.91;-2.91	5.21	0.302	0.15786	.	0.870917	0.09707	N	0.766211	D	0.83344	0.5234	N	0.08118	0	0.09310	N	1	D;D	0.57571	0.98;0.965	P;B	0.47744	0.556;0.353	T	0.75569	-0.3272	10	0.59425	D	0.04	-7.4368	4.2312	0.10604	0.1483:0.4755:0.2892:0.0869	.	805;799	P32927-2;P32927	.;IL3RB_HUMAN	C	799;799;805;805;746	ENSP00000384053:R799C;ENSP00000262825:R805C;ENSP00000385271:R805C;ENSP00000440003:R746C	ENSP00000262825:R805C	R	+	1	0	CSF2RB	35664191	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.226000	0.17776	0.538000	0.28769	0.400000	0.26472	CGC	0	pirsf_IL3_rcpt_beta		0.657	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	protein_coding	OTTHUMT00000318854.1	76	146	0	0.00	0	0	C	NM_000395	rs544020050	C->T		37334245	1	no_errors	ENST00000262825	ensembl	human	known	74_37	missense	52	183	16.13	6.63	10	13	SNP	0.001	T	T	37334245	C	T	37334245	3	4	71	1	0	0	0	0	1	0	0	0	3935	536	19	1	2445	1	CSF2RB	22	37334245	Missense_Mutation	SNP	C	TCGA-XU-A92V-01A-11D-A423-09		37334245	13970321	27	875											
GPR112	139378	genome.wustl.edu	37	chrX	135428327	135428327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtgcaattgtatttggagGtacaacgacccctgtaccaa	11	11	10	9	1	0	0	0	0	0	0	0	2	0	1	3	3	4	4	3	3	6	5	rs375491609		TCGA-XU-A92V-01A-11D-A423-09	TCGA-XU-A92V-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07df341c-dadd-4806-8206-293b966635c8	b9db8a9c-bfe7-4157-81db-2b038358930f	g.chrX:135428327G>A	ENST00000394143.1	+	6	2753	c.2462G>A	c.(2461-2463)gGt>gAt	p.G821D	GPR112_ENST00000287534.4_Missense_Mutation_p.G758D|GPR112_ENST00000412101.1_Missense_Mutation_p.G616D|GPR112_ENST00000370652.1_Missense_Mutation_p.G821D|GPR112_ENST00000394141.1_Missense_Mutation_p.G616D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	821					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)					GTATTTGGAGGTACAACGACC	0.368																																							0											0													118	106	110					X																	135428327		2203	4300	6503	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2462G>A	X.37:g.135428327G>A	ENSP00000377699:p.Gly821Asp		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.G821D	ENST00000394143.1	37	c.2462	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.878893	0.00537	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.23348	1.95;1.95;1.91;2.08;1.91	2.99	0.0998	0.14504	.	.	.	.	.	T	0.06416	0.0165	N	0.01874	-0.695	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	0.36625	-0.9740	9	0.02654	T	1	.	2.9299	0.05796	0.4475:0.2425:0.3101:0.0	.	758;616;821	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	D	821;821;616;758;616	ENSP00000377699:G821D;ENSP00000359686:G821D;ENSP00000416526:G616D;ENSP00000287534:G758D;ENSP00000377697:G616D	ENSP00000287534:G758D	G	+	2	0	GPR112	135255993	0.998000	0.40836	0.049000	0.19019	0.004000	0.04260	0.795000	0.26972	-0.114000	0.11936	-0.976000	0.02587	GGT	0	NULL		0.368	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	36	252	0	0.00	0	0	G		0	0		135428327	1	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	26	203	31.58	34.94	12	109	SNP	0.006	A	A	135428327	G	A	135428327	3	1	71	1	0	0	0	0	1	0	0	0	6629	1261	44	3	2472	3	GPR112	23	135428327	Missense_Mutation	SNP	G	TCGA-XU-A92V-01A-11D-A423-09		135428327	19842233	28	876											
MAEL	84944	genome.wustl.edu	37	chr1	166960676	166960676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagcagaatgtttcacCtccagatatgtcagctttgt	12	12	7	10	0	2	2	2	0	0	2	3	2	3	2	3	0	2	3	3	0	3	3			TCGA-XU-A92W-01A-11D-A423-09	TCGA-XU-A92W-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93954a05-70ea-4052-b371-fc776ad333ac	03b1356e-1a3a-4067-8090-4e9a23e88a0d	g.chr1:166960676C>T	ENST00000367872.4	+	3	531	c.287C>T	c.(286-288)cCt>cTt	p.P96L	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.P65L	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	96					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATGTTTCACCTCCAGATATG	0.398																																							0											0													154	152	153					1																	166960676		2203	4300	6503	SO:0001583	missense	0			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.287C>T	1.37:g.166960676C>T	ENSP00000356846:p.Pro96Leu		B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_CH-domain	p.P96L	ENST00000367872.4	37	c.287	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543480	0.27563	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.43688	1.03;0.94;0.95	5.9	2.69	0.31865	Domain of unknown function DUF1898 (1);	0.212573	0.34002	N	0.004341	T	0.07143	0.0181	N	0.04508	-0.205	0.54753	D	0.999986	B;B	0.16166	0.002;0.016	B;B	0.12156	0.004;0.007	T	0.10613	-1.0622	10	0.26408	T	0.33	.	5.9666	0.19328	0.0:0.6508:0.0:0.3492	.	65;96	E9JVC3;Q96JY0	.;MAEL_HUMAN	L	96;65;65	ENSP00000356846:P96L;ENSP00000356844:P65L;ENSP00000402143:P65L	ENSP00000356844:P65L	P	+	2	0	MAEL	165227300	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.917000	0.28665	0.845000	0.35118	-0.150000	0.13652	CCT	0	pfam_HMG_box_dom		0.398	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	protein_coding	OTTHUMT00000083239.1	77	225	0	0.00	0	0	C	NM_032858	0	0		166960676	1	no_errors	ENST00000367872	ensembl	human	known	74_37	missense	119	223	7.03	6.28	9	15	SNP	1	T	T	166960676	C	T	166960676	3	4	72	1	0	0	0	0	1	0	0	0	9154	681	24	3	297	3	MAEL	1	166960676	Missense_Mutation	SNP	C	TCGA-XU-A92W-01A-11D-A423-09		166960676	82289945	1	877											
TEAD3	7005	genome.wustl.edu	37	chr6	35444152	35444152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgggaggaggcaatggtaCggtcctgccacacaggcaca	10	4	15	12	2	0	0	0	0	0	0	1	2	1	2	3	6	2	3	3	6	2	1	rs201570534	byFrequency	TCGA-XU-A92W-01A-11D-A423-09	TCGA-XU-A92W-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93954a05-70ea-4052-b371-fc776ad333ac	03b1356e-1a3a-4067-8090-4e9a23e88a0d	g.chr6:35444152C>T	ENST00000402886.3	-	7	626	c.473G>A	c.(472-474)cGt>cAt	p.R158H	TEAD3_ENST00000338863.7_Missense_Mutation_p.R218H			Q99594	TEAD3_HUMAN	TEA domain family member 3	218	Pro-rich.				female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GGCAATGGTACGGTCCTGCCA	0.617													C|||	2	0.000399361	0	0.0014	5008	,	,		17009	0.001		0	False		,,,				2504	0						0.9996,0.0003994											0													47	60	56					6																	35444152		2090	4226	6316	SO:0001583	missense	0			X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.473G>A	6.37:g.35444152C>T	ENSP00000384577:p.Arg158His		O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	pfam_TEA/ATTS,pirsf_TEF	p.R158H	ENST00000402886.3	37	c.473		6	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	C	24.1	4.497822	0.85069	.	.	ENSG00000007866	ENST00000338863;ENST00000402886;ENST00000373905;ENST00000433586	T;T;T	0.60299	0.27;0.2;0.56	4.94	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	H	0.94264	3.515	0.80722	D	1	D;P;D	0.89917	1.0;0.809;1.0	D;B;D	0.97110	0.999;0.159;1.0	D	0.83659	0.0160	10	0.87932	D	0	-21.1067	12.3247	0.55003	0.0:0.9187:0.0:0.0813	.	158;234;218	B5MCM0;Q7Z6V0;Q99594	.;.;TEAD3_HUMAN	H	218;158;234;129	ENSP00000345772:R218H;ENSP00000384577:R158H;ENSP00000416400:R129H	ENSP00000345772:R218H	R	-	2	0	TEAD3	35552130	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.547000	0.82146	1.316000	0.45131	0.561000	0.74099	CGT	0	pfam_TEA/ATTS,pirsf_TEF		0.617	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	TEAD3	protein_coding	OTTHUMT00000316961.2	52	58	1.89	0.00	1	0	C		rs201570534	C->T		35444152	-1	no_errors	ENST00000402886	ensembl	human	novel	74_37	missense	26	40	13.33	4.65	4	2	SNP	1	T	T	35444152	C	T	35444152	3	4	72	1	0	0	0	0	1	0	0	0	15737	536	19	1	674	1	TEAD3	6	35444152	Missense_Mutation	SNP	C	TCGA-XU-A92W-01A-11D-A423-09		35444152	135670915	2	878											
RGS3	5998	genome.wustl.edu	37	chr9	116226116	116226116	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccgcgtctccctcgggAgccggcgtgcccacccggac	4	5	13	19	6	1	0	0	0	1	0	3	2	1	2	5	3	3	1	5	3	0	0			TCGA-XU-A92W-01A-11D-A423-09	TCGA-XU-A92W-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93954a05-70ea-4052-b371-fc776ad333ac	03b1356e-1a3a-4067-8090-4e9a23e88a0d	g.chr9:116226116A>G	ENST00000374140.2	+	4	624				RGS3_ENST00000317613.6_Missense_Mutation_p.S12G|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						CTCCCTCGGGAGCCGGCGTGC	0.697																																							0											0													37	38	38					9																	116226116		2203	4299	6502	SO:0001627	intron_variant	0			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.415+1635A>G	9.37:g.116226116A>G			A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,pfscan_C2_dom,pfscan_PDZ	p.S12G	ENST00000374140.2	37	c.34	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973114	0.53614	.	.	ENSG00000138835	ENST00000317613	T	0.37235	1.21	4.02	4.02	0.46733	.	.	.	.	.	T	0.20740	0.0499	.	.	.	0.80722	D	1	B	0.28291	0.206	B	0.22601	0.04	T	0.05386	-1.0888	8	0.15499	T	0.54	.	9.5562	0.39339	1.0:0.0:0.0:0.0	.	12	P49796-5	.	G	12	ENSP00000312844:S12G	ENSP00000312844:S12G	S	+	1	0	RGS3	115265937	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.930000	0.40124	1.831000	0.53308	0.248000	0.18094	AGC	0	NULL		0.697	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	protein_coding	OTTHUMT00000055561.3	33	67	0	1.47	0	1	A	NM_017790	0	0		116226116	1	no_errors	ENST00000317613	ensembl	human	known	74_37	missense	39	45	9.3	13.46	4	7	SNP	1	G	G	116226116	A	G	116226116	1	3	72	0	1	0	0	0	0	0	0	0	13306	304	11	4		4	RGS3	9	116226116	Intron	SNP	A	TCGA-XU-A92W-01A-11D-A423-09		116226116	24987315	3	879											
KCNC1	3746	genome.wustl.edu	37	chr11	17794040	17794040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccgcggccaccgcagctgGgatctcccaattattgtaaa	9	10	9	13	3	1	0	0	0	1	0	3	1	2	1	4	2	1	3	4	2	4	4			TCGA-XU-A92W-01A-11D-A423-09	TCGA-XU-A92W-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93954a05-70ea-4052-b371-fc776ad333ac	03b1356e-1a3a-4067-8090-4e9a23e88a0d	g.chr11:17794040G>A	ENST00000379472.3	+	2	1429	c.1399G>A	c.(1399-1401)Gga>Aga	p.G467R	KCNC1_ENST00000265969.6_Missense_Mutation_p.G467R	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	467					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)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	ACCGCAGCTGGGATCTCCCAA	0.443																																							0											0													52	59	57					11																	17794040		2200	4293	6493	SO:0001583	missense	0			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1399G>A	11.37:g.17794040G>A	ENSP00000368785:p.Gly467Arg		K4DI87	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_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.G467R	ENST00000379472.3	37	c.1399	CCDS7827.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058289	0.76074	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.96992	-4.2;-4.18	5.24	5.24	0.73138	.	0.231069	0.29459	N	0.012082	D	0.97835	0.9289	M	0.69823	2.125	0.80722	D	1	B;D	0.89917	0.228;1.0	B;D	0.80764	0.133;0.994	D	0.97965	1.0340	10	0.48119	T	0.1	.	18.8513	0.92232	0.0:0.0:1.0:0.0	.	467;467	Q3KNS8;P48547	.;KCNC1_HUMAN	R	467	ENSP00000265969:G467R;ENSP00000368785:G467R	ENSP00000265969:G467R	G	+	1	0	KCNC1	17750616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.445000	0.82738	0.561000	0.74099	GGA	0	NULL		0.443	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	protein_coding	OTTHUMT00000389389.1	29	165	0	0.60	0	1	G	NM_004976	0	0		17794040	1	no_errors	ENST00000265969	ensembl	human	known	74_37	missense	31	157	13.89	4.27	5	7	SNP	1	A	A	17794040	G	A	17794040	3	1	72	1	0	0	0	0	1	0	0	0	8014	1233	43	3	1405	3	KCNC1	11	17794040	Missense_Mutation	SNP	G	TCGA-XU-A92W-01A-11D-A423-09		17794040	117212476	4	880											
LMO7	4008	genome.wustl.edu	37	chr13	76335145	76335145	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttccatcctggagatctAcaggatttatcaaatcgagt	11	14	7	9	1	2	1	1	0	1	1	5	4	4	2	2	2	1	0	2	2	3	5	rs369873212|rs559563276	byFrequency	TCGA-XU-A92W-01A-11D-A423-09	TCGA-XU-A92W-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93954a05-70ea-4052-b371-fc776ad333ac	03b1356e-1a3a-4067-8090-4e9a23e88a0d	g.chr13:76335145A>G	ENST00000341547.4	+	5	1704	c.444A>G	c.(442-444)ctA>ctG	p.L148L	LMO7_ENST00000357063.3_Silent_p.L148L|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Silent_p.L148L|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Silent_p.L57L	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	148	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		CTGGAGATCTACAGGATTTAT	0.333																																							0											0													68	67	68					13																	76335145		2203	4300	6503	SO:0001819	synonymous_variant	0			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.444A>G	13.37:g.76335145A>G			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.L148	ENST00000341547.4	37	c.444	CCDS9454.1	13																																																																																			0	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin		0.333	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	protein_coding	OTTHUMT00000045297.1	32	166	0	0.60	0	1	A	NM_005358	0	0		76335145	1	no_errors	ENST00000357063	ensembl	human	known	74_37	silent	41	203	8.89	7.73	4	17	SNP	0.99	G	G	76335145	A	G	76335145	2	3	72	1	0	0	0	0	0	0	0	1	8855	378	14	3		3	LMO7	13	76335145	Silent	SNP	A	TCGA-XU-A92W-01A-11D-A423-09		76335145	38834733	5	881											
SPTBN5	51332	genome.wustl.edu	37	chr15	42167711	42167711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggagctcgtccccaCgctcagtcatcttgcggttc	4	11	10	16	3	3	0	2	0	1	0	6	1	4	1	3	2	3	4	3	2	0	2	rs181128984		TCGA-XU-A92W-01A-11D-A423-09	TCGA-XU-A92W-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93954a05-70ea-4052-b371-fc776ad333ac	03b1356e-1a3a-4067-8090-4e9a23e88a0d	g.chr15:42167711C>T	ENST00000320955.6	-	22	4459	c.4232G>A	c.(4231-4233)cGt>cAt	p.R1411H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1411					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)		CTCGTCCCCACGCTCAGTCAT	0.607																																							0.9998,0.0001997,.											0								C	HIS/ARG	0,4270		0,0,2135	48	51	50		4127	-6	0	15		50	4,8464		0,4,4230	yes	missense	SPTBN5	NM_016642.2	29	0,4,6365	TT,TC,CC		0.0472,0.0,0.0314	benign	1376/3640	42167711	4,12734	2135	4234	6369	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4232G>A	15.37:g.42167711C>T	ENSP00000317790:p.Arg1411His			Missense_Mutation	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.R1411H	ENST00000320955.6	37	c.4232		15	.	.	.	.	.	.	.	.	.	.	.	12.28	1.891790	0.33442	0.0	4.72E-4	ENSG00000137877	ENST00000320955	T	0.61392	0.11	5.48	-6.03	0.02185	.	0.699488	0.13256	N	0.401718	T	0.36826	0.0981	L	0.38175	1.15	0.09310	N	1	B	0.26081	0.141	B	0.22880	0.042	T	0.12319	-1.0552	10	0.41790	T	0.15	.	5.9202	0.19078	0.1893:0.3932:0.0:0.4175	.	1411	Q9NRC6	SPTN5_HUMAN	H	1411	ENSP00000317790:R1411H	ENSP00000317790:R1411H	R	-	2	0	SPTBN5	39955003	0.006000	0.16342	0.000000	0.03702	0.007000	0.05969	0.105000	0.15333	-1.303000	0.02332	-0.779000	0.03376	CGT	0	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.607	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	protein_coding	OTTHUMT00000420237.1	32	101	0	0.00	0	0	C	NM_016642	rs181128984	C->A,T		42167711	-1	no_errors	ENST00000320955	ensembl	human	known	74_37	missense	22	89	18.52	5.32	5	5	SNP	0.006	T	T	42167711	C	T	42167711	3	4	72	1	0	0	0	0	1	0	0	0	15121	536	19	1	6980	1	SPTBN5	15	42167711	Missense_Mutation	SNP	C	TCGA-XU-A92W-01A-11D-A423-09		42167711	60363681	6	882											
PREX1	57580	genome.wustl.edu	37	chr20	47324938	47324938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggtctgggtgcttgcCgggagtcctcttggccagct	2	11	18	10	1	2	0	0	0	2	0	3	1	3	1	3	6	3	2	3	6	0	2			TCGA-XU-A92W-01A-11D-A423-09	TCGA-XU-A92W-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	93954a05-70ea-4052-b371-fc776ad333ac	03b1356e-1a3a-4067-8090-4e9a23e88a0d	g.chr20:47324938C>T	ENST00000371941.3	-	6	665	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	PREX1_ENST00000396220.1_Missense_Mutation_p.G215S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	215	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)	p.G215S(2)		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)			GGGTGCTTGCCGGGAGTCCTC	0.577																																							0											2	Substitution - Missense(2)	large_intestine(2)											102	112	108					20																	47324938		2203	4300	6503	SO:0001583	missense	0			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.643G>A	20.37:g.47324938C>T	ENSP00000361009:p.Gly215Ser		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.G215S	ENST00000371941.3	37	c.643	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433195	0.25813	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.61392	0.11;0.11	5.64	4.69	0.59074	Dbl homology (DH) domain (5);	0.403999	0.19623	U	0.109876	T	0.25827	0.0629	N	0.03948	-0.315	0.09310	N	1	B	0.27416	0.178	B	0.19391	0.025	T	0.18023	-1.0350	10	0.09843	T	0.71	.	5.259	0.15563	0.3277:0.5297:0.0:0.1426	.	215	Q8TCU6	PREX1_HUMAN	S	215	ENSP00000361009:G215S;ENSP00000379522:G215S	ENSP00000361009:G215S	G	-	1	0	PREX1	46758345	0.951000	0.32395	0.749000	0.31150	0.976000	0.68499	3.748000	0.55142	1.359000	0.45940	0.655000	0.94253	GGC	0	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.577	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	protein_coding	OTTHUMT00000079623.1	57	180	0	0.55	0	1	C	NM_020820	0	0		47324938	-1	no_errors	ENST00000371941	ensembl	human	known	74_37	missense	48	141	7.69	11.88	4	19	SNP	0.081	T	T	47324938	C	T	47324938	3	4	72	1	0	0	0	0	1	0	0	0	12476	652	23	2	4476	2	PREX1	20	47324938	Missense_Mutation	SNP	C	TCGA-XU-A92W-01A-11D-A423-09		47324938	15700582	7	883											
OTOP1	133060	genome.wustl.edu	37	chr4	4228358	4228360	+	In_Frame_Del	DEL	CAG	CAG	-																															gcggcgtgcacggcccaggcCagcagcagcagcagccccgc																										TCGA-XU-A92X-01A-11D-A423-09	TCGA-XU-A92X-10A-01D-A426-09	CAG	CAG	CAG	-	CAG	CAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1e5acf5d-6f68-4e84-8923-a52f96b012f5	5c05e9c1-352f-4b60-9ea7-05d483f3a571	g.chr4:4228358_4228360delCAG	ENST00000296358.4	-	1	256_258	c.232_234delCTG	c.(232-234)ctgdel	p.L78del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	78					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)		CGGCCCAGGCCAGCAGCAGCAGC	0.685																																							0											0																																										SO:0001651	inframe_deletion	0			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.232_234delCTG	4.37:g.4228367_4228369delCAG	ENSP00000296358:p.Leu78del		A1L476	In_Frame_Del	DEL	pfam_Otopetrin	p.L78in_frame_del	ENST00000296358.4	37	c.234_232	CCDS3372.1	4																																																																																			0	NULL		0.685	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	protein_coding	OTTHUMT00000206661.2	13	23	0	0.00	0	0	CAG	NM_177998	0	0		4228360	-1	no_errors	ENST00000296358	ensembl	human	known	74_37	in_frame_del	10	19	23.08	9.52	3	2	DEL	1.000:1.000:0.999	0	-	4228360	CAG	-	4228358	7	5	73	1	0	1	0	1	0	0	0	0	11305	581	21	0	1628	0	OTOP1	4	4228358	In_Frame_Del	DEL	CAG	TCGA-XU-A92X-01A-11D-A423-09		4228358	186925918	1	884											
PCDHB10	56126	genome.wustl.edu	37	chr5	140574260	140574260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtgctcctgttcgtggCggtgcggctgtgcaggagga	3	10	18	10	4	0	0	0	0	0	0	3	2	1	2	1	6	3	4	1	6	0	1			TCGA-XU-A92X-01A-11D-A423-09	TCGA-XU-A92X-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e5acf5d-6f68-4e84-8923-a52f96b012f5	5c05e9c1-352f-4b60-9ea7-05d483f3a571	g.chr5:140574260C>T	ENST00000239446.4	+	1	2319	c.2135C>T	c.(2134-2136)gCg>gTg	p.A712V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	712					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)			CTGTTCGTGGCGGTGCGGCTG	0.692																																							0											0													39	49	46					5																	140574260		2081	4055	6136	SO:0001583	missense	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2135C>T	5.37:g.140574260C>T	ENSP00000239446:p.Ala712Val		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A712V	ENST00000239446.4	37	c.2135	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	c	16.09	3.025734	0.54683	.	.	ENSG00000120324	ENST00000239446	T	0.15603	2.41	3.18	1.2	0.21068	.	.	.	.	.	T	0.26629	0.0651	M	0.91768	3.24	0.09310	N	1	P	0.48162	0.906	B	0.40506	0.331	T	0.19418	-1.0306	9	0.44086	T	0.13	.	8.9805	0.35961	0.0:0.5249:0.4751:0.0	.	712	Q9UN67	PCDBA_HUMAN	V	712	ENSP00000239446:A712V	ENSP00000239446:A712V	A	+	2	0	PCDHB10	140554444	0.000000	0.05858	0.854000	0.33618	0.880000	0.50808	-2.879000	0.00716	0.149000	0.19098	0.298000	0.19748	GCG	0	NULL		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	protein_coding	OTTHUMT00000251821.1	67	4	0	0.00	0	0	C	NM_018930	0	0		140574260	1	no_errors	ENST00000239446	ensembl	human	known	74_37	missense	26	2	7.14	0.00	2	0	SNP	0.001	T	T	140574260	C	T	140574260	3	4	73	1	0	0	0	0	1	0	0	0	11535	768	27	1	2137	1	PCDHB10	5	140574260	Missense_Mutation	SNP	C	TCGA-XU-A92X-01A-11D-A423-09		140574260	40341000	2	885											
MED6	10001	genome.wustl.edu	37	chr14	71051621	71051621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttctcctcaggttttacaGtttctggtataggttctgcc	5	17	8	11	0	4	0	1	0	3	0	5	0	4	0	3	3	2	4	3	3	3	7			TCGA-XU-A92X-01A-11D-A423-09	TCGA-XU-A92X-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1e5acf5d-6f68-4e84-8923-a52f96b012f5	5c05e9c1-352f-4b60-9ea7-05d483f3a571	g.chr14:71051621G>A	ENST00000256379.5	-	8	679	c.650C>T	c.(649-651)aCt>aTt	p.T217I	MED6_ENST00000554963.1_Missense_Mutation_p.T217I|MED6_ENST00000430055.2_Missense_Mutation_p.T224I|MED6_ENST00000440435.2_Silent_p.N178N	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	217					gene expression (GO:0010467)|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 initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		AGGTTTTACAGTTTCTGGTAT	0.438																																							0											0													227	192	204					14																	71051621		2203	4300	6503	SO:0001583	missense	0			BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.650C>T	14.37:g.71051621G>A	ENSP00000256379:p.Thr217Ile		B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Missense_Mutation	SNP	pfam_Mediator_Med6,pirsf_Mediator_Med6_met/pln	p.T217I	ENST00000256379.5	37	c.650	CCDS9805.1	14	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754726	0.49362	.	.	ENSG00000133997	ENST00000554963;ENST00000256379;ENST00000430055	.	.	.	5.75	5.75	0.90469	.	0.366078	0.34777	N	0.003692	T	0.54806	0.1881	L	0.34521	1.04	0.80722	D	1	B;B	0.16396	0.017;0.005	B;B	0.11329	0.006;0.004	T	0.46992	-0.9151	9	0.40728	T	0.16	-8.424	18.7148	0.91671	0.0:0.0:1.0:0.0	.	224;217	B4DU17;O75586	.;MED6_HUMAN	I	217;217;224	.	ENSP00000256379:T217I	T	-	2	0	MED6	70121374	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	4.699000	0.61796	2.716000	0.92895	0.655000	0.94253	ACT	0	pirsf_Mediator_Med6_met/pln		0.438	MED6-001	KNOWN	basic|CCDS	protein_coding	MED6	protein_coding	OTTHUMT00000412560.2	91	258	0	0.38	0	1	G	NM_005466	0	0		71051621	-1	no_errors	ENST00000256379	ensembl	human	known	74_37	missense	89	333	12.75	8.22	13	30	SNP	0.999	A	A	71051621	G	A	71051621	3	1	73	1	0	0	0	0	1	0	0	0	9451	1029	36	3	94	3	MED6	14	71051621	Missense_Mutation	SNP	G	TCGA-XU-A92X-01A-11D-A423-09		71051621	36297919	3	886											
STARD5	80765	genome.wustl.edu	37	chr15	81614806	81614806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcatcccacttcactcgTaggcctccaacagctggctt	7	12	6	16	1	2	0	2	0	1	0	6	0	4	0	3	2	2	3	3	2	2	4			TCGA-XU-A92X-01A-11D-A423-09	TCGA-XU-A92X-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1e5acf5d-6f68-4e84-8923-a52f96b012f5	5c05e9c1-352f-4b60-9ea7-05d483f3a571	g.chr15:81614806T>C	ENST00000302824.6	-	3	250	c.225A>G	c.(223-225)ctA>ctG	p.L75L	STARD5_ENST00000559913.1_5'UTR|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	75	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						ACTTCACTCGTAGGCCTCCAA	0.483																																							0											0													173	136	149					15																	81614806		2203	4300	6503	SO:0001819	synonymous_variant	0			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"StAR-related lipid transfer (START) domain containing"	18065	protein-coding gene	gene with protein product		607050	"START domain containing 5"			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.225A>G	15.37:g.81614806T>C			P59094	Missense_Mutation	SNP	NULL	p.T59A	ENST00000302824.6	37	c.175	CCDS10318.1	15	.	.	.	.	.	.	.	.	.	.	T	4.124	0.021205	0.08006	.	.	ENSG00000172345	ENST00000325346	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.45955	0.1368	.	.	.	0.50467	D	0.999874	.	.	.	.	.	.	T	0.62210	-0.6902	5	0.66056	D	0.02	-8.936	0.4188	0.00453	0.3385:0.1663:0.2466:0.2486	.	.	.	.	A	59	.	ENSP00000317519:T59A	T	-	1	0	STARD5	79401861	0.000000	0.05858	0.002000	0.10522	0.521000	0.34408	-3.787000	0.00366	-3.605000	0.00133	-0.182000	0.12963	ACG	0	NULL		0.483	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD5	protein_coding	OTTHUMT00000303950.2	46	229	0	0.00	0	0	T		0	0		81614806	-1	no_errors	ENST00000325346	ensembl	human	known	74_37	missense	32	228	31.91	20.28	15	58	SNP	0.001	C	C	81614806	T	C	81614806	2	2	73	1	0	0	0	0	0	0	0	1	15259	1625	57	3		3	STARD5	15	81614806	Silent	SNP	T	TCGA-XU-A92X-01A-11D-A423-09		81614806	20916586	4	887											
ZCCHC14	23174	genome.wustl.edu	37	chr16	87525314	87525314	+	Frame_Shift_Del	DEL	C	C	-																															gtgggcagcgcgccgcccggCccgggcgcgcccttgccgcc																										TCGA-XU-A92X-01A-11D-A423-09	TCGA-XU-A92X-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e5acf5d-6f68-4e84-8923-a52f96b012f5	5c05e9c1-352f-4b60-9ea7-05d483f3a571	g.chr16:87525314delC	ENST00000268616.4	-	1	337	c.120delG	c.(118-120)gggfs	p.G40fs	RP11-482M8.1_ENST00000565824.1_lincRNA	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	40							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		cgccgcccggcccgggcgcgc	0.716																																							0											0													4	5	4					16																	87525314		1970	3789	5759	SO:0001589	frameshift_variant	0			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.120delG	16.37:g.87525314delC	ENSP00000268616:p.Gly40fs		D3DUN1|O60324|Q3MJD8|Q9UFP0	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.P41fs	ENST00000268616.4	37	c.120	CCDS10961.1	16																																																																																			0	NULL		0.716	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	protein_coding	OTTHUMT00000269107.1	58	7	0	0.00	0	0	C	NM_015144	0	0		87525314	-1	no_errors	ENST00000268616	ensembl	human	known	74_37	frame_shift_del	18	6	10	0.00	2	0	DEL	0.589	0	-	87525314	C	-	87525314	7	5	73	1	0	1	0	1	0	0	0	0	17580	726	26	0	2781	0	ZCCHC14	16	87525314	Frame_Shift_Del	DEL	C	TCGA-XU-A92X-01A-11D-A423-09		87525314	2829439	5	888											
ZNF790	388536	genome.wustl.edu	37	chr19	37310854	37310854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattcctcttgattatctTgaagtgtttgaaactgagtg	10	16	9	6	0	2	4	0	4	2	0	3	4	3	4	1	0	2	2	1	0	3	5			TCGA-XU-A92X-01A-11D-A423-09	TCGA-XU-A92X-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1e5acf5d-6f68-4e84-8923-a52f96b012f5	5c05e9c1-352f-4b60-9ea7-05d483f3a571	g.chr19:37310854T>C	ENST00000356725.4	-	5	512	c.392A>G	c.(391-393)cAa>cGa	p.Q131R	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	131					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)			TTGATTATCTTGAAGTGTTTG	0.388																																							0											0													136	131	132					19																	37310854		2203	4300	6503	SO:0001583	missense	0			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.392A>G	19.37:g.37310854T>C	ENSP00000349161:p.Gln131Arg			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.Q131R	ENST00000356725.4	37	c.392	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	T	9.572	1.121381	0.20877	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.05580	3.42;6.28;5.87	3.19	0.94	0.19513	.	.	.	.	.	T	0.06416	0.0165	L	0.56769	1.78	0.09310	N	1	B	0.26002	0.139	B	0.19666	0.026	T	0.37430	-0.9706	9	0.34782	T	0.22	.	3.74	0.08526	0.1883:0.1124:0.0:0.6993	.	131	Q6PG37	ZN790_HUMAN	R	131	ENSP00000349161:Q131R;ENSP00000435944:Q131R;ENSP00000433389:Q131R	ENSP00000349161:Q131R	Q	-	2	0	ZNF790	42002694	0.013000	0.17824	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	-0.002000	0.14469	-0.535000	0.04281	CAA	0	NULL		0.388	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	protein_coding	OTTHUMT00000385341.2	62	208	0	0.00	0	0	T	NM_206894	0	0		37310854	-1	no_errors	ENST00000356725	ensembl	human	known	74_37	missense	48	253	20	19.30	12	61	SNP	0.004	C	C	37310854	T	C	37310854	3	2	73	1	0	0	0	0	1	0	0	0	18159	1812	63	3	1522	3	ZNF790	19	37310854	Missense_Mutation	SNP	T	TCGA-XU-A92X-01A-11D-A423-09		37310854	21818129	6	889											
HMGB3	3149	genome.wustl.edu	37	chrX	150156358	150156360	+	In_Frame_Del	DEL	GAG	GAG	-																															aagaagaggaggaggaagaaGaggaggaggaggaggaggag																										TCGA-XU-A92X-01A-11D-A423-09	TCGA-XU-A92X-10A-01D-A426-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e5acf5d-6f68-4e84-8923-a52f96b012f5	5c05e9c1-352f-4b60-9ea7-05d483f3a571	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																																							0											1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	0			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		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																																																																																			0	NULL		0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HMGB3	protein_coding	OTTHUMT00000060867.1	34	0	0	0.00	0	0	GAG	NM_005342	0	0		150156360	1	no_errors	ENST00000325307	ensembl	human	known	74_37	in_frame_del	24	0	14.29	0.00	4	0	DEL	0.987:0.994:0.985	0	-	150156360	GAG	-	150156358	7	5	73	1	0	1	0	1	0	0	0	0	7227	943	33	0	588	0	HMGB3	23	150156358	In_Frame_Del	DEL	GAG	TCGA-XU-A92X-01A-11D-A423-09		150156358	5114202	7	890											
COL11A1	1301	genome.wustl.edu	37	chr1	103540214	103540214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatccttgttccaaaaaccGtgattccattggtatcaaca	14	12	5	10	1	1	1	1	1	0	0	4	1	4	1	4	1	2	2	4	1	5	5	rs199595073		TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr1:103540214G>A	ENST00000370096.3	-	4	923	c.611C>T	c.(610-612)aCg>aTg	p.T204M	COL11A1_ENST00000512756.1_Missense_Mutation_p.T204M|COL11A1_ENST00000353414.4_Missense_Mutation_p.T204M|COL11A1_ENST00000358392.2_Missense_Mutation_p.T204M	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	204	Laminin G-like.				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)		TCCAAAAACCGTGATTCCATT	0.353													G|||	1	0.000199681	0	0	5008	,	,		18022	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0													152	137	142					1																	103540214		2203	4300	6503	SO:0001583	missense	0			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.611C>T	1.37:g.103540214G>A	ENSP00000359114:p.Thr204Met		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.T204M	ENST00000370096.3	37	c.611	CCDS778.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.02	2.112117	0.37242	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.73	3.85	0.44370	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);	0.105191	0.64402	N	0.000004	T	0.78892	0.4355	M	0.73598	2.24	0.44660	D	0.997641	D;D;B;B	0.67145	0.989;0.996;0.038;0.047	P;P;B;B	0.62491	0.903;0.844;0.015;0.031	T	0.78650	-0.2121	10	0.44086	T	0.13	.	9.0416	0.36321	0.2256:0.0:0.7744:0.0	.	204;204;204;204	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	M	204;204;204;204;204;131	ENSP00000359114:T204M;ENSP00000351163:T204M;ENSP00000302551:T204M;ENSP00000426533:T204M;ENSP00000408640:T204M;ENSP00000410177:T131M	ENSP00000302551:T204M	T	-	2	0	COL11A1	103312802	0.997000	0.39634	0.643000	0.29450	0.998000	0.95712	2.497000	0.45354	0.750000	0.32877	0.650000	0.86243	ACG	0	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	protein_coding	OTTHUMT00000029997.1	78	358	0	0.00	0	0	G	NM_080630	rs199595073	G->A		103540214	-1	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	58	248	13.43	8.15	9	22	SNP	0.991	A	A	103540214	G	A	103540214	3	1	74	1	0	0	0	0	1	0	0	0	3667	1145	40	1	5222	1	COL11A1	1	103540214	Missense_Mutation	SNP	G	TCGA-XU-A92Y-01A-11D-A423-09		103540214	145710407	1	891											
PKLR	5313	genome.wustl.edu	37	chr1	155265093	155265093	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccacttccgactctggacCctaaggagggagccagagga	10	6	12	13	1	1	1	0	0	1	1	3	6	3	5	4	4	1	0	4	4	1	2			TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr1:155265093C>T	ENST00000342741.4	-	5	546	c.508G>A	c.(508-510)Ggt>Agt	p.G170S	PKLR_ENST00000392414.3_Splice_Site_p.G139S	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	170					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)	GACTCTGGACCCTAAGGAGGG	0.687																																							0											0													44	52	49					1																	155265093		2201	4298	6499	SO:0001630	splice_region_variant	0			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.508-1G>A	1.37:g.155265093C>T			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.G170S	ENST00000342741.4	37	c.508	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636349	0.29068	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99751	-6.63;-6.63	4.05	4.05	0.47172	Pyruvate/Phosphoenolpyruvate kinase (1);Pyruvate kinase, beta-barrel insert domain (1);Pyruvate kinase-like, insert domain (1);Pyruvate kinase, barrel (1);	0.257566	0.38720	N	0.001582	D	0.97914	0.9314	L	0.28776	0.89	0.49687	D	0.999816	B;B	0.10296	0.003;0.003	B;B	0.19148	0.024;0.024	D	0.99965	1.1839	10	0.20519	T	0.43	-12.6638	14.0736	0.64874	0.0:1.0:0.0:0.0	.	170;161	P30613;B1AVT1	KPYR_HUMAN;.	S	195;139;170;84	ENSP00000376214:G139S;ENSP00000339933:G170S	ENSP00000271946:G84S	G	-	1	0	PKLR	153531717	1.000000	0.71417	0.955000	0.39395	0.060000	0.15804	4.348000	0.59379	2.251000	0.74343	0.289000	0.19496	GGT	0	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase		0.687	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	protein_coding	OTTHUMT00000087407.2	74	57	1.33	0.00	1	0	C	NM_000298	0	0	Missense_Mutation	155265093	-1	no_errors	ENST00000342741	ensembl	human	known	74_37	missense	85	79	14.14	7.06	14	6	SNP	1	T	T	155265093	C	T	155265093	5	4	74	1	0	0	0	0	0	0	1	0	11976	637	22	3	1244	3	PKLR	1	155265093	Splice_Site	SNP	C	TCGA-XU-A92Y-01A-11D-A423-09	51724879	155265093	93985528	2	892											
PCDHGB1	56104	genome.wustl.edu	37	chr5	140730598	140730598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtaccgtggggaacctcCgtgctgcgggtgatggccac	7	7	15	12	4	0	1	0	1	0	0	1	2	1	2	4	4	5	2	4	4	3	1			TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr5:140730598C>T	ENST00000523390.1	+	1	771	c.771C>T	c.(769-771)tcC>tcT	p.S257S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	257	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)			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)			GGGGAACCTCCGTGCTGCGGG	0.507																																							0											0													99	106	104					5																	140730598		2034	4184	6218	SO:0001819	synonymous_variant	0			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.771C>T	5.37:g.140730598C>T			Q3SY75|Q9Y5C8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S257	ENST00000523390.1	37	c.771	CCDS54923.1	5																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.507	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	protein_coding	OTTHUMT00000374740.1	44	240	0	0.00	0	0	C	NM_018922	0	0		140730598	1	no_errors	ENST00000523390	ensembl	human	known	74_37	silent	58	212	9.23	9.01	6	21	SNP	0	T	T	140730598	C	T	140730598	2	4	74	1	0	0	0	0	0	0	0	1	11562	639	23	2		2	PCDHGB1	5	140730598	Silent	SNP	C	TCGA-XU-A92Y-01A-11D-A423-09		140730598	40184662	3	893											
CNKSR3	154043	genome.wustl.edu	37	chr6	154763352	154763352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcggctacttatgtaatTctgtaaattgtgggaagatg	10	14	11	6	2	1	1	0	0	1	1	2	2	1	2	1	2	1	3	1	2	6	6			TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr6:154763352T>C	ENST00000607772.1	-	3	833	c.289A>G	c.(289-291)Aat>Gat	p.N97D	CNKSR3_ENST00000479339.1_Missense_Mutation_p.N17D	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	97	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				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)		CTTATGTAATTCTGTAAATTG	0.463																																							0											0													91	98	95					6																	154763352		2203	4300	6503	SO:0001583	missense	0			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.289A>G	6.37:g.154763352T>C	ENSP00000475915:p.Asn97Asp		Q5SGD5|Q96N65	Missense_Mutation	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.N97D	ENST00000607772.1	37	c.289	CCDS5246.1	6	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686069	0.68157	.	.	ENSG00000153721	ENST00000367213;ENST00000479339	T;T	0.50813	1.38;0.73	5.57	5.57	0.84162	CRIC domain (1);CRIC domain, Chordata (1);	0.273852	0.41605	D	0.000853	T	0.32645	0.0836	L	0.53249	1.67	0.34104	D	0.662199	P	0.38677	0.642	B	0.36808	0.233	T	0.44636	-0.9315	10	0.56958	D	0.05	.	16.023	0.80512	0.0:0.0:0.0:1.0	.	97	Q6P9H4	CNKR3_HUMAN	D	97;17	ENSP00000356182:N97D;ENSP00000418975:N17D	ENSP00000356182:N97D	N	-	1	0	CNKSR3	154805044	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.926000	0.70070	2.244000	0.73946	0.533000	0.62120	AAT	0	pfam_CRIC_domain_Chordata		0.463	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR3	protein_coding	OTTHUMT00000042792.2	69	204	0	0.00	0	0	T	NM_173515	0	0		154763352	-1	no_errors	ENST00000607772	ensembl	human	known	74_37	missense	100	208	10.71	11.49	12	27	SNP	1	C	C	154763352	T	C	154763352	3	2	74	1	0	0	0	0	1	0	0	0	3608	1783	62	3	1422	3	CNKSR3	6	154763352	Missense_Mutation	SNP	T	TCGA-XU-A92Y-01A-11D-A423-09		154763352	16351715	4	894											
PEG10	23089	genome.wustl.edu	37	chr7	94293816	94293816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggcctcaaagtcttcGccggcgggaaactccccggc	8	5	12	16	4	2	0	1	0	1	0	4	1	3	1	5	4	1	0	5	4	3	1			TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr7:94293816G>A	ENST00000482108.1	+	2	1427	c.948G>A	c.(946-948)tcG>tcA	p.S316S	PEG10_ENST00000488574.1_Silent_p.S316S	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	316					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAAGTCTTCGCCGGCGGGAA	0.547																																							0											0													15	19	18					7																	94293816		1900	4084	5984	SO:0001819	synonymous_variant	0			AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.948G>A	7.37:g.94293816G>A			Q96A68|Q9UPV1	Silent	SNP	pfam_Retrotrans_gag_dom,superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.S316	ENST00000482108.1	37	c.948	CCDS55126.1	7																																																																																			0	superfamily_Znf_CCHC		0.547	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG10	protein_coding	OTTHUMT00000340751.1	66	113	0	0.00	0	0	G	NM_015068	0	0		94293816	1	no_errors	ENST00000482108	ensembl	human	known	74_37	silent	69	102	10.39	6.42	8	7	SNP	0.972	A	A	94293816	G	A	94293816	2	1	74	1	0	0	0	0	0	0	0	1	11719	1087	38	1		1	PEG10	7	94293816	Silent	SNP	G	TCGA-XU-A92Y-01A-11D-A423-09		94293816	64844847	5	895											
MYST3	7994	genome.wustl.edu	37	chr8	41791074	41791074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagtggtgctctcaatgCtgcccaggtcactgaagccg	7	11	11	12	1	3	1	3	1	1	0	4	1	3	1	2	2	4	2	2	2	2	1			TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr8:41791074C>T	ENST00000396930.3	-	18	5207	c.4664G>A	c.(4663-4665)aGc>aAc	p.S1555N	KAT6A_ENST00000265713.2_Missense_Mutation_p.S1555N|KAT6A_ENST00000406337.1_Missense_Mutation_p.S1555N	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1555	Interaction with PML.|Interaction with RUNX1-2.				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)										GCTCTCAATGCTGCCCAGGTC	0.567																																							0											0													92	82	85					8																	41791074		2203	4300	6503	SO:0001583	missense	0			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.4664G>A	8.37:g.41791074C>T	ENSP00000380136:p.Ser1555Asn		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.S1555N	ENST00000396930.3	37	c.4664	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	15.31	2.797084	0.50208	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.69435	-0.4;-0.4;-0.4	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	L	0.34521	1.04	0.58432	D	0.999999	D	0.71674	0.998	D	0.81914	0.995	T	0.74948	-0.3490	10	0.48119	T	0.1	-18.983	20.0051	0.97433	0.0:1.0:0.0:0.0	.	1555	Q92794	KAT6A_HUMAN	N	1555	ENSP00000265713:S1555N;ENSP00000385888:S1555N;ENSP00000380136:S1555N	ENSP00000265713:S1555N	S	-	2	0	KAT6A	41910231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.799000	0.96334	0.650000	0.86243	AGC	0	NULL		0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	protein_coding	OTTHUMT00000318163.1	32	107	0	0.00	0	0	C	NM_006766	0	0		41791074	-1	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	44	98	8.33	6.67	4	7	SNP	1	T	T	41791074	C	T	41791074	3	4	74	1	0	0	0	0	1	0	0	0	10104	797	28	3	1354	3	MYST3	8	41791074	Missense_Mutation	SNP	C	TCGA-XU-A92Y-01A-11D-A423-09		41791074	104572948	6	896											
NRAP	4892	genome.wustl.edu	37	chr10	115374703	115374703	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggattccttataacgCgtctgtcgggaagatgtgca	9	11	11	10	3	1	1	0	0	1	1	4	3	3	3	2	2	2	1	2	2	3	3	rs372300454		TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr10:115374703C>T	ENST00000359988.3	-	28	3325	c.3081G>A	c.(3079-3081)acG>acA	p.T1027T	NRAP_ENST00000360478.3_Silent_p.T992T|NRAP_ENST00000369358.4_Silent_p.T1035T|NRAP_ENST00000369360.3_Silent_p.T1000T	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)		CCTTATAACGCGTCTGTCGGG	0.473																																							0											0								T	,	1,4405	2.1+/-5.4	0,1,2202	144	129	134		2976,3081	-10.7	0	10		134	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NRAP	NM_006175.3,NM_198060.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	992/1696,1027/1731	115374703	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3081G>A	10.37:g.115374703C>T				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.T1035	ENST00000359988.3	37	c.3105	CCDS7579.1	10																																																																																			0	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.473	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	protein_coding	OTTHUMT00000050425.2	52	171	0	0.00	0	0	C	NM_006175	rs372300454	C->T		115374703	-1	no_errors	ENST00000369358	ensembl	human	known	74_37	silent	58	142	15.94	8.39	11	13	SNP	0.001	T	T	115374703	C	T	115374703	2	4	74	1	0	0	0	0	0	0	0	1	10638	755	27	1		1	NRAP	10	115374703	Silent	SNP	C	TCGA-XU-A92Y-01A-11D-A423-09		115374703	20160044	7	897											
FAM111B	374393	genome.wustl.edu	37	chr11	58893330	58893330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggccagatcaagaaaaTagatggttgtactgtgattc	14	11	11	5	0	1	5	1	2	0	3	2	5	1	5	1	2	1	2	1	2	6	4			TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr11:58893330T>C	ENST00000343597.3	+	4	1951	c.1760T>C	c.(1759-1761)aTa>aCa	p.I587T	FAM111B_ENST00000529618.1_Missense_Mutation_p.I557T|FAM111B_ENST00000411426.1_Missense_Mutation_p.I557T	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	587							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATCAAGAAAATAGATGGTTGT	0.393																																							0											0													115	102	106					11																	58893330		2201	4295	6496	SO:0001583	missense	0			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.1760T>C	11.37:g.58893330T>C	ENSP00000341565:p.Ile587Thr		B4E2G2|Q6P661	Missense_Mutation	SNP	superfamily_Trypsin-like_Pept_dom	p.I587T	ENST00000343597.3	37	c.1760	CCDS7972.1	11	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484747	0.26598	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.34667	1.36;1.36;1.35	4.62	0.103	0.14526	Peptidase cysteine/serine, trypsin-like (1);	0.326315	0.26715	N	0.022872	T	0.25232	0.0613	L	0.49256	1.55	0.09310	N	1	B	0.24920	0.114	B	0.23150	0.044	T	0.28933	-1.0028	10	0.12430	T	0.62	.	8.1769	0.31287	0.0:0.4396:0.0:0.5604	.	587	Q6SJ93	F111B_HUMAN	T	557;557;587	ENSP00000393855:I557T;ENSP00000432875:I557T;ENSP00000341565:I587T	ENSP00000341565:I587T	I	+	2	0	FAM111B	58649906	0.007000	0.16637	0.001000	0.08648	0.005000	0.04900	-0.299000	0.08254	-0.148000	0.11234	-0.297000	0.09499	ATA	0	superfamily_Trypsin-like_Pept_dom		0.393	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	protein_coding	OTTHUMT00000393974.1	59	242	0	0.00	0	0	T	NM_198947	0	0		58893330	1	no_errors	ENST00000343597	ensembl	human	known	74_37	missense	56	236	12.5	10.61	8	28	SNP	0.013	C	C	58893330	T	C	58893330	3	2	74	1	0	0	0	0	1	0	0	0	5400	1406	49	3	1766	3	FAM111B	11	58893330	Missense_Mutation	SNP	T	TCGA-XU-A92Y-01A-11D-A423-09		58893330	76113186	8	898											
TIMELESS	8914	genome.wustl.edu	37	chr12	56817404	56817404	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaattaaattctttctccGacacctggaccacttgcaac	13	11	5	12	1	2	0	0	0	2	0	3	3	2	1	3	1	2	1	3	1	5	4			TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr12:56817404G>T	ENST00000553532.1	-	17	2204	c.2054C>A	c.(2053-2055)tCg>tAg	p.S685*	TIMELESS_ENST00000229201.4_Nonsense_Mutation_p.S684*|TIMELESS_ENST00000554616.1_Intron					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						TTCTTTCTCCGACACCTGGAC	0.552																																							0											0													71	63	65					12																	56817404		2203	4300	6503	SO:0001587	stop_gained	0			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.2054C>A	12.37:g.56817404G>T	ENSP00000450607:p.Ser685*			Nonsense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.S685*	ENST00000553532.1	37	c.2054	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.384536	0.98786	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	.	.	.	5.61	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5821	12.6738	0.56882	0.1471:0.0:0.8529:0.0	.	.	.	.	X	684;685	.	ENSP00000229201:S685X	S	-	2	0	TIMELESS	55103671	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	4.479000	0.60236	1.510000	0.48803	0.561000	0.74099	TCG	0	NULL		0.552	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	protein_coding	OTTHUMT00000409771.1	23	154	0	0.00	0	0	G	NM_003920	0	0		56817404	-1	no_errors	ENST00000553532	ensembl	human	known	74_37	nonsense	32	165	8.57	10.33	3	19	SNP	0.969	T	T	56817404	G	T	56817404	4	4	74	1	0	0	0	0	0	1	0	0	15901	1059	37	5	1624	5	TIMELESS	12	56817404	Nonsense_Mutation	SNP	G	TCGA-XU-A92Y-01A-11D-A423-09		56817404	77034491	9	899											
CCDC43	124808	genome.wustl.edu	37	chr17	42756399	42756399	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacatcttccacattggtgTttcggaacagaactacaggt	11	11	10	9	1	1	1	0	0	1	1	3	3	2	3	1	4	3	1	1	4	3	4			TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr17:42756399T>C	ENST00000315286.8	-	5	508	c.500A>G	c.(499-501)aAc>aGc	p.N167S	CCDC43_ENST00000457422.2_Silent_p.K147K|C17orf104_ENST00000588805.1_3'UTR|CCDC43_ENST00000588210.1_Missense_Mutation_p.N170S|RP11-1072C15.4_ENST00000591628.1_RNA	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	167										lung(2)	2		Prostate(33;0.0322)				CACATTGGTGTTTCGGAACAG	0.488																																							0											0													101	100	100					17																	42756399		2031	4200	6231	SO:0001583	missense	0			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.500A>G	17.37:g.42756399T>C	ENSP00000323782:p.Asn167Ser		C9JVK9	Missense_Mutation	SNP	NULL	p.N167S	ENST00000315286.8	37	c.500	CCDS45704.1	17	.	.	.	.	.	.	.	.	.	.	T	27.4	4.823705	0.90873	.	.	ENSG00000180329	ENST00000315286	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83131	-0.0113	8	0.87932	D	0	-30.2785	16.4675	0.84087	0.0:0.0:0.0:1.0	.	167	Q96MW1	CCD43_HUMAN	S	167	.	ENSP00000323782:N167S	N	-	2	0	CCDC43	40111925	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.097000	0.76967	2.367000	0.80283	0.528000	0.53228	AAC	0	NULL		0.488	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CCDC43	protein_coding	OTTHUMT00000457812.1	47	287	0	0.00	0	0	T	NM_144609	0	0		42756399	-1	no_errors	ENST00000315286	ensembl	human	known	74_37	missense	50	276	13.79	7.33	8	22	SNP	1	C	C	42756399	T	C	42756399	3	2	74	1	0	0	0	0	1	0	0	0	2815	1725	60	3	178	3	CCDC43	17	42756399	Missense_Mutation	SNP	T	TCGA-XU-A92Y-01A-11D-A423-09		42756399	38438811	10	900											
LGALS3BP	3959	genome.wustl.edu	37	chr17	76969290	76969290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggagaggtccagggtgtGggtgctcctggtttctaaga	6	11	16	8	0	1	2	0	0	1	2	3	3	3	2	3	5	1	2	3	5	1	2			TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr17:76969290G>C	ENST00000262776.3	-	5	699	c.391C>G	c.(391-393)Cac>Gac	p.H131D	LGALS3BP_ENST00000585407.1_Missense_Mutation_p.H131D|LGALS3BP_ENST00000591778.1_Intron	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	131					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)			TCCAGGGTGTGGGTGCTCCTG	0.622																																					GBM(89;1105 1755 18102 21513)		0											0													8	8	8					17																	76969290		2188	4285	6473	SO:0001583	missense	0			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.391C>G	17.37:g.76969290G>C	ENSP00000262776:p.His131Asp		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	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.H131D	ENST00000262776.3	37	c.391	CCDS11759.1	17	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598096	0.28445	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.46063	0.88	2.9	-2.14	0.07123	BTB/POZ fold (1);Speract/scavenger receptor-related (1);	0.470871	0.15928	N	0.237813	T	0.27967	0.0689	L	0.43152	1.355	0.22858	N	0.998647	B	0.11235	0.004	B	0.06405	0.002	T	0.16305	-1.0407	10	0.29301	T	0.29	.	6.99	0.24750	0.493:0.0:0.507:0.0	.	131	Q08380	LG3BP_HUMAN	D	131;119	ENSP00000262776:H131D	ENSP00000262776:H131D	H	-	1	0	LGALS3BP	74480885	0.212000	0.23540	0.022000	0.16811	0.181000	0.23173	0.521000	0.22893	-0.428000	0.07339	0.561000	0.74099	CAC	0	superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold		0.622	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	protein_coding	OTTHUMT00000437785.3	37	103	0	0.00	0	0	G	NM_005567	0	0		76969290	-1	no_errors	ENST00000262776	ensembl	human	known	74_37	missense	37	104	11.9	8.77	5	10	SNP	0.039	C	C	76969290	G	C	76969290	3	2	74	1	0	0	0	0	1	0	0	0	8744	1348	47	5	1374	5	LGALS3BP	17	76969290	Missense_Mutation	SNP	G	TCGA-XU-A92Y-01A-11D-A423-09	34212891	76969290	4225920	11	901											
GPS1	2873	genome.wustl.edu	37	chr17	80012657	80012657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaccagcgccaaacacGtcatcaacatgtgcctcaat	13	7	6	15	2	3	0	3	0	0	0	3	0	3	0	3	0	5	1	3	0	3	0	rs149095451		TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr17:80012657G>A	ENST00000306823.6	+	4	615	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	GPS1_ENST00000320548.4_Missense_Mutation_p.V178I|GPS1_ENST00000578552.1_Missense_Mutation_p.V194I|GPS1_ENST00000392358.2_Missense_Mutation_p.V234I|GPS1_ENST00000355130.2_Missense_Mutation_p.V234I			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	198					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGCCAAACACGTCATCAACAT	0.662													.|||	1	0.000199681	0	0	5008	,	,		16114	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0								G	ILE/VAL,ILE/VAL	0,4404		0,0,2202	52	48	49		592,700	4.7	1	17	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	GPS1	NM_004127.4,NM_212492.1	29,29	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	198/492,234/528	80012657	2,13002	2202	4300	6502	SO:0001583	missense	0				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.592G>A	17.37:g.80012657G>A	ENSP00000302873:p.Val198Ile		Q8NA10|Q9BWL1	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.V234I	ENST00000306823.6	37	c.700	CCDS32774.1	17	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029683	0.54790	0.0	2.33E-4	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130;ENST00000392357	T;T;T	0.75477	-0.77;-0.94;-0.77	4.65	4.65	0.58169	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	N	0.17631	0.505	0.80722	D	1	B;B;B;B;B;B	0.27229	0.024;0.007;0.172;0.019;0.023;0.005	B;B;B;B;B;B	0.23275	0.023;0.01;0.045;0.02;0.026;0.006	T	0.57075	-0.7873	10	0.05721	T	0.95	-53.6521	17.5075	0.87750	0.0:0.0:1.0:0.0	.	190;234;183;194;198;234	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	I	234;184;198;234;119	ENSP00000376167:V234I;ENSP00000302873:V198I;ENSP00000347251:V234I	ENSP00000302873:V198I	V	+	1	0	GPS1	77605946	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.098000	0.94202	2.150000	0.67090	0.491000	0.48974	GTC	0	pfam_26S_proteasome_reg_su-Rpn7		0.662	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	protein_coding	OTTHUMT00000442176.1	36	134	0	0.00	0	0	G	NM_212492	rs149095451	G->A		80012657	1	no_errors	ENST00000355130	ensembl	human	known	74_37	missense	32	129	13.51	11.64	5	17	SNP	1	A	A	80012657	G	A	80012657	3	1	74	1	0	0	0	0	1	0	0	0	6732	1145	40	1	763	1	GPS1	17	80012657	Missense_Mutation	SNP	G	TCGA-XU-A92Y-01A-11D-A423-09	3043367	80012657	1182553	12	902											
GATAD2A	54815	genome.wustl.edu	37	chr19	19613159	19613159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccagccagctgtcccGgggttcggccacgacgcccc	4	5	13	19	4	0	0	0	0	0	0	3	1	2	0	7	4	2	2	7	4	0	1			TCGA-XU-A92Y-01A-11D-A423-09	TCGA-XU-A92Y-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8	52477ee5-459e-424e-9f5a-7d9aa1216d21	g.chr19:19613159G>T	ENST00000360315.3	+	11	1907	c.1595G>T	c.(1594-1596)cGg>cTg	p.R532L	GATAD2A_ENST00000252577.5_Missense_Mutation_p.R507L|GATAD2A_ENST00000404158.1_Missense_Mutation_p.R533L|GATAD2A_ENST00000537887.1_Missense_Mutation_p.R161L|GATAD2A_ENST00000429563.2_Missense_Mutation_p.R335L|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R532L	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	532					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						CAGCTGTCCCGGGGTTCGGCC	0.657																																							0											0													47	50	49					19																	19613159		2202	4300	6502	SO:0001583	missense	0			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.1595G>T	19.37:g.19613159G>T	ENSP00000353463:p.Arg532Leu		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.R532L	ENST00000360315.3	37	c.1595	CCDS12402.2	19	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651110	0.67472	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.50001	1.36;1.31;1.36;0.76	5.23	5.23	0.72850	.	0.054549	0.85682	D	0.000000	T	0.64260	0.2582	M	0.68952	2.095	0.50813	D	0.999899	P;D;D	0.69078	0.945;0.997;0.994	B;P;P	0.60286	0.445;0.872;0.554	T	0.65261	-0.6211	10	0.48119	T	0.1	-13.9582	17.4151	0.87497	0.0:0.0:1.0:0.0	.	335;552;532	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	L	532;507;161;552;532;335	ENSP00000353463:R532L;ENSP00000252577:R507L;ENSP00000351552:R532L;ENSP00000388416:R335L	ENSP00000252577:R507L	R	+	2	0	GATAD2A	19474159	1.000000	0.71417	0.994000	0.49952	0.557000	0.35523	6.342000	0.72982	2.452000	0.82932	0.585000	0.79938	CGG	0	NULL		0.657	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	protein_coding	OTTHUMT00000326671.4	49	44	0	0.00	0	0	G	NM_017660	0	0		19613159	1	no_errors	ENST00000358713	ensembl	human	known	74_37	missense	61	76	7.58	8.43	5	7	SNP	1	T	T	19613159	G	T	19613159	3	4	74	1	0	0	0	0	1	0	0	0	6260	1116	39	5	1633	5	GATAD2A	19	19613159	Missense_Mutation	SNP	G	TCGA-XU-A92Y-01A-11D-A423-09		19613159	39515824	13	903											
DNAJC8	22826	genome.wustl.edu	37	chr1	28536509	28536509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccacgtattcttttcctgCctgaattacatccagggccc	7	14	6	14	1	1	1	0	1	1	0	4	1	4	1	5	1	2	1	5	1	3	6			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr1:28536509C>A	ENST00000263697.4	-	5	399	c.373G>T	c.(373-375)Gca>Tca	p.A125S	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	125					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)		TCTTTTCCTGCCTGAATTACA	0.418																																							0											0													128	111	117					1																	28536509		1890	4113	6003	SO:0001583	missense	0			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.373G>T	1.37:g.28536509C>A	ENSP00000263697:p.Ala125Ser		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.A125S	ENST00000263697.4	37	c.373	CCDS41292.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403492	0.83230	.	.	ENSG00000126698	ENST00000263697	T	0.65364	-0.15	6.05	6.05	0.98169	Heat shock protein DnaJ, N-terminal (1);	0.096800	0.64402	D	0.000001	T	0.65207	0.2669	L	0.57536	1.79	0.80722	D	1	B	0.33777	0.425	B	0.37387	0.248	T	0.60556	-0.7240	10	0.35671	T	0.21	-20.2445	20.5934	0.99428	0.0:1.0:0.0:0.0	.	125	O75937	DNJC8_HUMAN	S	125	ENSP00000263697:A125S	ENSP00000263697:A125S	A	-	1	0	DNAJC8	28409096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.396000	0.79891	2.872000	0.98467	0.650000	0.86243	GCA	0	superfamily_DnaJ_domain		0.418	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC8	protein_coding	OTTHUMT00000009860.1	42	76	0	0.00	0	0	C	NM_014280	0	0		28536509	-1	no_errors	ENST00000263697	ensembl	human	known	74_37	missense	46	82	24.59	27.43	15	31	SNP	1	A	A	28536509	C	A	28536509	3	1	75	1	0	0	0	0	1	0	0	0	4655	739	26	5	408	5	DNAJC8	1	28536509	Missense_Mutation	SNP	C	TCGA-XU-A92Z-01A-11D-A423-09		28536509	220714112	1	904											
NRAS	4893	genome.wustl.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	7	15	8	11	0	3	0	1	0	2	0	5	0	5	0	2	1	2	5	2	1	3	5	rs11554290	byFrequency	TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													0		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)											180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg		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.Q61R	ENST00000369535.4	37	c.182	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA	0	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	60	223	0	0.00	0	0	T	NM_002524	rs11554290	T->A,C,G		115256529	-1	no_errors	ENST00000369535	ensembl	human	known	74_37	missense	58	140	26.58	39.74	21	93	SNP	1	C	C	115256529	T	C	115256529	3	2	75	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-XU-A92Z-01A-11D-A423-09	86720020	115256529	133994092	2	905											
ATP1A2	477	genome.wustl.edu	37	chr1	160098515	160098515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctggaggcggtggagaCgctgggctccacgtccacca	8	5	15	13	3	0	1	0	0	0	1	2	4	2	2	4	5	1	2	4	5	1	0			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr1:160098515C>T	ENST00000361216.3	+	9	1180	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	ATP1A2_ENST00000392233.3_Missense_Mutation_p.T364M	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	364					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)			GCGGTGGAGACGCTGGGCTCC	0.577																																							0											0													119	102	107					1																	160098515		2203	4300	6503	SO:0001583	missense	0			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.1091C>T	1.37:g.160098515C>T	ENSP00000354490:p.Thr364Met		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.T364M	ENST00000361216.3	37	c.1091	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.862909|4.862909	0.91511|0.91511	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.92397	.|-3.03;-3.03	4.77|4.77	4.77|4.77	0.60923|0.60923	.|ATPase, P-type, cytoplasmic domain N (1);ATPase, P-type, ATPase-associated domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97514|0.97514	0.9186|0.9186	H|H	0.97516|0.97516	4.02|4.02	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	0.99010|0.99010	1.0814|1.0814	5|10	.|0.87932	.|D	.|0	.|.	16.9484|16.9484	0.86236|0.86236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|209;364;264;364	.|B4DHD7;B1AKY9;F5GXJ7;P50993	.|.;.;.;AT1A2_HUMAN	C|M	75|209;364;364;67	.|ENSP00000354490:T364M;ENSP00000376066:T364M	.|ENSP00000354490:T364M	R|T	+|+	1|2	0|0	ATP1A2|ATP1A2	158365139|158365139	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	7.757000|7.757000	0.85209|0.85209	2.359000|2.359000	0.80004|0.80004	0.561000|0.561000	0.74099|0.74099	CGC|ACG	0	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	protein_coding	OTTHUMT00000060642.2	28	60	0	0.00	0	0	C	NM_000702	0	0		160098515	1	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	16	37	58.97	46.38	23	32	SNP	1	T	T	160098515	C	T	160098515	3	4	75	1	0	0	0	0	1	0	0	0	1129	536	19	1	1125	1	ATP1A2	1	160098515	Missense_Mutation	SNP	C	TCGA-XU-A92Z-01A-11D-A423-09	44841986	160098515	89152106	3	906											
RFWD2	64326	genome.wustl.edu	37	chr1	176105648	176105648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcttaatatcctcttcCaaaacacttagctccttctg	10	15	2	14	0	3	0	0	0	3	0	7	0	6	0	3	0	2	1	3	0	5	5			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr1:176105648C>G	ENST00000367669.3	-	7	1381	c.867G>C	c.(865-867)ttG>ttC	p.L289F	RFWD2_ENST00000308769.8_Intron	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	289					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATCCTCTTCCAAAACACTTA	0.353																																					Ovarian(134;1413 1765 5706 35534 51541)		0											0													109	103	105					1																	176105648		2203	4300	6503	SO:0001583	missense	0			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.867G>C	1.37:g.176105648C>G	ENSP00000356641:p.Leu289Phe		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L289F	ENST00000367669.3	37	c.867	CCDS30944.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105287	0.77096	.	.	ENSG00000143207	ENST00000367665;ENST00000367669	T	0.12569	2.67	5.4	4.49	0.54785	.	0.000000	0.64402	D	0.000001	T	0.30324	0.0761	L	0.50333	1.59	0.80722	D	1	P;P;D	0.65815	0.817;0.824;0.995	P;P;D	0.70487	0.561;0.879;0.969	T	0.02238	-1.1190	10	0.87932	D	0	-6.9909	13.3225	0.60440	0.0:0.9237:0.0:0.0763	.	25;49;289	Q8NHY2-3;B1AMD2;Q8NHY2	.;.;RFWD2_HUMAN	F	25;289	ENSP00000356641:L289F	ENSP00000356637:L25F	L	-	3	2	RFWD2	174372271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.301000	0.51842	1.291000	0.44653	0.650000	0.86243	TTG	0	NULL		0.353	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	protein_coding	OTTHUMT00000084672.2	26	151	0	0.00	0	0	C	NM_022457	0	0		176105648	-1	no_errors	ENST00000367669	ensembl	human	known	74_37	missense	21	177	8.7	5.85	2	11	SNP	1	G	G	176105648	C	G	176105648	3	3	75	1	0	0	0	0	1	0	0	0	13260	593	21	5	1384	5	RFWD2	1	176105648	Missense_Mutation	SNP	C	TCGA-XU-A92Z-01A-11D-A423-09	16007133	176105648	73144973	4	907											
ADCY3	109	genome.wustl.edu	37	chr2	25043661	25043661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactgtattgccccagatgtCgtagtgtggtttccgggctc	5	13	13	10	2	0	1	0	0	0	1	3	2	1	1	3	2	1	4	3	2	2	4			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr2:25043661C>T	ENST00000260600.5	-	20	4035	c.3184G>A	c.(3184-3186)Gac>Aac	p.D1062N	ADCY3_ENST00000405392.1_Missense_Mutation_p.D649N|CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1062					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)					CCCCAGATGTCGTAGTGTGGT	0.572																																							0											0													175	144	154					2																	25043661		2203	4300	6503	SO:0001583	missense	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3184G>A	2.37:g.25043661C>T	ENSP00000260600:p.Asp1062Asn		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D1062N	ENST00000260600.5	37	c.3184	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	C	37	5.989646	0.97179	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	D;D	0.85411	-1.98;-1.98	5.93	5.93	0.95920	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	0.96015	0.8702	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	0.97109	0.9803	10	0.87932	D	0	.	19.936	0.97142	0.0:1.0:0.0:0.0	.	1063;1062;649	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	N	1062;649;1037	ENSP00000260600:D1062N;ENSP00000384484:D649N	ENSP00000260600:D1062N	D	-	1	0	ADCY3	24897165	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	GAC	0	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.572	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	protein_coding	OTTHUMT00000211574.2	80	159	0	0.00	0	0	C		0	0		25043661	-1	no_errors	ENST00000260600	ensembl	human	known	74_37	missense	57	136	29.63	33.00	24	67	SNP	1	T	T	25043661	C	T	25043661	3	4	75	1	0	0	0	0	1	0	0	0	295	884	31	2	258	2	ADCY3	2	25043661	Missense_Mutation	SNP	C	TCGA-XU-A92Z-01A-11D-A423-09		25043661	218155712	5	908											
PLXND1	23129	genome.wustl.edu	37	chr3	129278491	129278491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccagatgtgtagggtgtCggggtcggagattcccctct	5	12	14	10	2	1	2	0	0	1	2	5	3	3	2	3	4	0	1	3	4	1	3			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr3:129278491C>T	ENST00000324093.4	-	32	5447	c.5269G>A	c.(5269-5271)Gac>Aac	p.D1757N	PLXND1_ENST00000393239.1_Missense_Mutation_p.D1757N|PLXND1_ENST00000504689.1_5'Flank	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1757					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						TGTAGGGTGTCGGGGTCGGAG	0.602																																					Ovarian(97;366 1484 3738 22084 39045)		0											0													98	104	102					3																	129278491		2203	4300	6503	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5269G>A	3.37:g.129278491C>T	ENSP00000317128:p.Asp1757Asn		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.D1757N	ENST00000324093.4	37	c.5269	CCDS33854.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.539044|5.539044	0.96474|0.96474	.|.	.|.	ENSG00000004399|ENSG00000004399	ENST00000324093;ENST00000393239|ENST00000506979	T;T|.	0.14022|.	2.54;2.54|.	4.95|4.95	4.95|4.95	0.65309|0.65309	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);|.	0.112812|.	0.56097|.	D|.	0.000022|.	T|T	0.73063|0.73063	0.3539|0.3539	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.994;0.999|.	T|T	0.72304|0.72304	-0.4333|-0.4333	10|5	0.87932|.	D|.	0|.	.|.	18.2048|18.2048	0.89851|0.89851	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	352;1757|.	B4DRU3;Q9Y4D7|.	.;PLXD1_HUMAN|.	N|Q	1757|100	ENSP00000317128:D1757N;ENSP00000376931:D1757N|.	ENSP00000317128:D1757N|.	D|R	-|-	1|2	0|0	PLXND1|PLXND1	130761181|130761181	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.917000|0.917000	0.54804|0.54804	7.813000|7.813000	0.86123|0.86123	2.292000|2.292000	0.77174|0.77174	0.563000|0.563000	0.77884|0.77884	GAC|CGA	0	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.602	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	protein_coding	OTTHUMT00000356132.4	83	120	0	0.00	0	0	C	NM_015103	0	0		129278491	-1	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	92	158	7.07	6.51	7	11	SNP	1	T	T	129278491	C	T	129278491	3	4	75	1	0	0	0	0	1	0	0	0	12127	884	31	2	528	2	PLXND1	3	129278491	Missense_Mutation	SNP	C	TCGA-XU-A92Z-01A-11D-A423-09		129278491	68743939	6	909											
SLC23A1	9963	genome.wustl.edu	37	chr5	138716555	138716555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagaaatgcaaaggcaCtggcctggaacagcggcagc	14	3	13	11	1	0	1	0	0	0	1	0	3	0	2	2	4	5	3	2	4	4	0			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr5:138716555C>T	ENST00000348729.3	-	4	375	c.329G>A	c.(328-330)aGt>aAt	p.S110N	SLC23A1_ENST00000503919.1_5'UTR|SLC23A1_ENST00000353963.3_Missense_Mutation_p.S110N	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	110					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TGCAAAGGCACTGGCCTGGAA	0.602																																							0											0													14	14	14					5																	138716555		2195	4297	6492	SO:0001583	missense	0			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"Solute carriers"	10974	protein-coding gene	gene with protein product		603790	"solute carrier family 23 (nucleobase transporters), member 2"	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.329G>A	5.37:g.138716555C>T	ENSP00000302701:p.Ser110Asn		O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.S110N	ENST00000348729.3	37	c.329	CCDS4212.1	5	.	.	.	.	.	.	.	.	.	.	C	31	5.100701	0.94245	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000453898	T;T	0.19669	2.13;2.13	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.73598	2.24	0.80722	D	1	D;P	0.56035	0.974;0.746	D;B	0.73380	0.98;0.43	T	0.40289	-0.9571	10	0.54805	T	0.06	-23.14	16.1656	0.81754	0.0:1.0:0.0:0.0	.	110;110	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	N	110	ENSP00000302851:S110N;ENSP00000302701:S110N	ENSP00000302701:S110N	S	-	2	0	SLC23A1	138744454	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	7.541000	0.82084	2.677000	0.91161	0.561000	0.74099	AGT	0	pfam_Xant/urac/vitC		0.602	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	SLC23A1	protein_coding	OTTHUMT00000374185.1	23	33	0	0.00	0	0	C	NM_152685	0	0		138716555	-1	no_errors	ENST00000353963	ensembl	human	known	74_37	missense	15	44	28.57	30.77	6	20	SNP	1	T	T	138716555	C	T	138716555	3	4	75	1	0	0	0	0	1	0	0	0	14462	565	20	3	1523	3	SLC23A1	5	138716555	Missense_Mutation	SNP	C	TCGA-XU-A92Z-01A-11D-A423-09		138716555	42198705	7	910											
GBA2	57704	genome.wustl.edu	37	chr9	35748561	35748561	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtcggctgtcttcgggActcttacagtctgtaacctg	5	12	14	10	2	3	0	0	0	3	0	5	1	3	1	1	4	2	2	1	4	2	3			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr9:35748561A>T	ENST00000378103.3	-	1	664	c.141T>A	c.(139-141)agT>agA	p.S47R	RGP1_ENST00000378078.4_5'Flank|RGP1_ENST00000456972.2_5'Flank|GBA2_ENST00000545786.1_Missense_Mutation_p.S47R|GBA2_ENST00000378094.4_Missense_Mutation_p.S47R	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	47					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)			TGTCTTCGGGACTCTTACAGT	0.547																																							0											0													133	138	136					9																	35748561		2203	4300	6503	SO:0001583	missense	0			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.141T>A	9.37:g.35748561A>T	ENSP00000367343:p.Ser47Arg		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.S47R	ENST00000378103.3	37	c.141	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	A	14.05	2.418823	0.42918	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.04	0.937	0.19494	.	0.503467	0.18600	N	0.136461	T	0.24509	0.0594	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.15578	-1.0432	9	0.59425	D	0.04	-0.2773	5.2805	0.15673	0.2534:0.1473:0.5993:0.0	.	47;47;47	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	R	47	.	ENSP00000367334:S47R	S	-	3	2	GBA2	35738561	0.217000	0.23597	0.004000	0.12327	0.048000	0.14542	1.615000	0.36922	0.074000	0.16767	-0.427000	0.05922	AGT	0	NULL		0.547	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	protein_coding	OTTHUMT00000055456.1	36	164	0	1.20	0	2	A	NM_020944	0	0		35748561	-1	no_errors	ENST00000545786	ensembl	human	known	74_37	missense	21	144	38.24	26.90	13	53	SNP	0.001	T	T	35748561	A	T	35748561	3	4	75	1	0	0	0	0	1	0	0	0	6267	272	10	5	2710	5	GBA2	9	35748561	Missense_Mutation	SNP	A	TCGA-XU-A92Z-01A-11D-A423-09		35748561	105464870	8	911											
GFI1B	8328	genome.wustl.edu	37	chr9	135862743	135862743	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtgcctggactggaccAacctcaaacgagagccggag	12	4	12	13	2	1	1	1	0	0	1	1	5	1	4	5	3	4	0	5	3	2	0			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr9:135862743A>C	ENST00000339463.3	+	7	994	c.175A>C	c.(175-177)Aac>Cac	p.N59H	GFI1B_ENST00000534944.1_Missense_Mutation_p.N59H|GFI1B_ENST00000372123.1_Missense_Mutation_p.N59H|GFI1B_ENST00000372124.1_Missense_Mutation_p.N59H|GFI1B_ENST00000372122.1_Missense_Mutation_p.N59H|GFI1B_ENST00000450530.1_Missense_Mutation_p.N59H			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	59					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)		GGACTGGACCAACCTCAAACG	0.602																																							0											0													89	76	80					9																	135862743		2203	4300	6503	SO:0001583	missense	0			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.175A>C	9.37:g.135862743A>C	ENSP00000344782:p.Asn59His		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N59H	ENST00000339463.3	37	c.175	CCDS6957.1	9	.	.	.	.	.	.	.	.	.	.	A	3.110	-0.182872	0.06340	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.08984	3.19;3.03;3.03;3.19;3.19;3.03	4.33	-1.13	0.09775	.	2.229410	0.02184	N	0.060775	T	0.04724	0.0128	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	0.37220	-0.9715	10	0.45353	T	0.12	-0.0194	3.9865	0.09517	0.3837:0.367:0.2492:0.0	.	59;59	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	H	59	ENSP00000361197:N59H;ENSP00000344782:N59H;ENSP00000409546:N59H;ENSP00000446134:N59H;ENSP00000361196:N59H;ENSP00000361195:N59H	ENSP00000344782:N59H	N	+	1	0	GFI1B	134852564	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.085000	0.14912	-0.273000	0.09246	-0.313000	0.08912	AAC	0	NULL		0.602	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GFI1B	protein_coding	OTTHUMT00000393840.1	56	121	0	0.00	0	0	A	NM_004188	0	0		135862743	1	no_errors	ENST00000339463	ensembl	human	known	74_37	missense	27	106	20.59	29.80	7	45	SNP	0	C	C	135862743	A	C	135862743	3	2	75	1	0	0	0	0	1	0	0	0	6340	130	5	5	181	5	GFI1B	9	135862743	Missense_Mutation	SNP	A	TCGA-XU-A92Z-01A-11D-A423-09	100114182	135862743	5350688	9	912											
GALNT9	50614	genome.wustl.edu	37	chr12	132683757	132683757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggtagaggatcgcccGgtcgccgtcctccgctccct	4	7	14	16	5	0	1	0	0	0	1	5	2	3	2	5	4	0	3	5	4	1	1			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr12:132683757G>A	ENST00000328957.8	-	9	1458	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	GALNT9_ENST00000535228.1_Missense_Mutation_p.R238W|GALNT9_ENST00000397325.2_Missense_Mutation_p.R121W|GALNT9_ENST00000541995.1_Missense_Mutation_p.R121W	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	487	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)|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)		AGGATCGCCCGGTCGCCGTCC	0.657																																					Colon(186;2147 2752 13553 41466)		0											0													45	54	51					12																	132683757		2028	4156	6184	SO:0001583	missense	0			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.1459C>T	12.37:g.132683757G>A	ENSP00000329846:p.Arg487Trp		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.R487W	ENST00000328957.8	37	c.1459		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.43|16.43	3.121336|3.121336	0.56613|0.56613	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000411988|ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995	.|T;T;T;T	.|0.27720	.|1.65;1.65;1.65;1.65	4.49|4.49	2.37|2.37	0.29283|0.29283	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|0.478359	.|0.22616	.|N	.|0.057778	T|T	0.46698|0.46698	0.1406|0.1406	L|L	0.60455|0.60455	1.87|1.87	0.38625|0.38625	D|D	0.951248|0.951248	.|D;D;D	.|0.89917	.|1.0;0.992;0.98	.|D;P;P	.|0.68765	.|0.96;0.773;0.606	T|T	0.54022|0.54022	-0.8355|-0.8355	5|10	.|0.72032	.|D	.|0.01	.|.	11.036|11.036	0.47802|0.47802	0.0:0.0:0.5637:0.4363|0.0:0.0:0.5637:0.4363	.|.	.|238;487;344	.|B3KNR7;Q9HCQ5;B3KP58	.|.;GALT9_HUMAN;.	L|W	259|121;487;238;121	.|ENSP00000380488:R121W;ENSP00000329846:R487W;ENSP00000439745:R238W;ENSP00000440544:R121W	.|ENSP00000329846:R487W	P|R	-|-	2|1	0|2	GALNT9|GALNT9	131249710|131249710	0.999000|0.999000	0.42202|0.42202	0.825000|0.825000	0.32803|0.32803	0.165000|0.165000	0.22458|0.22458	2.961000|2.961000	0.49168|0.49168	2.025000|2.025000	0.59659|0.59659	0.563000|0.563000	0.77884|0.77884	CCG|CGG	0	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.657	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	protein_coding	OTTHUMT00000402967.1	90	29	0	0.00	0	0	G	NM_001122636	0	0		132683757	-1	no_errors	ENST00000328957	ensembl	human	known	74_37	missense	62	35	42.06	32.69	45	17	SNP	0.983	A	A	132683757	G	A	132683757	3	1	75	1	0	0	0	0	1	0	0	0	6220	1115	39	2	364	2	GALNT9	12	132683757	Missense_Mutation	SNP	G	TCGA-XU-A92Z-01A-11D-A423-09		132683757	1168138	10	913											
IRX3	79191	genome.wustl.edu	37	chr16	54318612	54318614	+	In_Frame_Del	DEL	GCG	GCG	-																															gcgctgagaccagtctgtgaGcggcggcggcggcggcggcc																										TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	GCG	GCG	GCG	-	GCG	GCG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr16:54318612_54318614delGCG	ENST00000329734.3	-	2	1891_1893	c.1179_1181delCGC	c.(1177-1182)gccgct>gct	p.393_394AA>A		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	393	Poly-Ala.|Pro-rich.				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						CAGTCTGTGAgcggcggcggcgg	0.778																																					GBM(143;1830 1866 4487 4646 37383)		0											0										12,890		5,2,444						-2	0.9			2	24,2396		7,10,1193	no	coding	IRX3	NM_024336.2		12,12,1637	A1A1,A1R,RR		0.9917,1.3304,1.0837				36,3286				SO:0001651	inframe_deletion	0			U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1179_1181delCGC	16.37:g.54318621_54318623delGCG	ENSP00000331608:p.Ala394del		Q7Z4A4|Q7Z4A5|Q8IVC6	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A394in_frame_del	ENST00000329734.3	37	c.1181_1179	CCDS10750.1	16																																																																																			0	NULL		0.778	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX3	protein_coding	OTTHUMT00000256910.2	14	25	0	0.00	0	0	GCG		0	0		54318614	-1	no_errors	ENST00000329734	ensembl	human	known	74_37	in_frame_del	13	11	18.75	15.38	3	2	DEL	0.605:0.606:0.549	0	-	54318614	GCG	-	54318612	7	5	75	1	0	1	0	1	0	0	0	0	7845	971	34	0	336	0	IRX3	16	54318612	In_Frame_Del	DEL	GCG	TCGA-XU-A92Z-01A-11D-A423-09		54318612	36036141	11	914											
EVI5L	115704	genome.wustl.edu	37	chr19	7913876	7913876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcttctgtgcagcgccacgGacatgcccgtcaagaaccag	10	6	11	14	3	2	1	1	0	1	1	2	2	2	2	3	1	5	2	3	1	2	1			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr19:7913876G>A	ENST00000270530.4	+	4	593	c.397G>A	c.(397-399)Gac>Aac	p.D133N	EVI5L_ENST00000538904.2_Missense_Mutation_p.D133N	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	133	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						CAGCGCCACGGACATGCCCGT	0.652																																							0											0													42	37	39					19																	7913876		2203	4300	6503	SO:0001583	missense	0			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.397G>A	19.37:g.7913876G>A	ENSP00000270530:p.Asp133Asn		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.D133N	ENST00000270530.4	37	c.397	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557159	0.27827	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.11495	2.77;2.77	4.48	2.35	0.29111	Rab-GAP/TBC domain (4);	0.169791	0.51477	N	0.000096	T	0.06690	0.0171	N	0.21240	0.645	0.48696	D	0.999699	B;B	0.06786	0.0;0.001	B;B	0.11329	0.006;0.005	T	0.34129	-0.9841	10	0.23891	T	0.37	-36.1866	8.1748	0.31275	0.1977:0.0:0.8023:0.0	.	133;133	B9A6I9;Q96CN4	.;EVI5L_HUMAN	N	133	ENSP00000270530:D133N;ENSP00000445905:D133N	ENSP00000270530:D133N	D	+	1	0	EVI5L	7819876	1.000000	0.71417	0.490000	0.27465	0.428000	0.31595	3.807000	0.55591	0.514000	0.28300	0.462000	0.41574	GAC	0	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.652	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	protein_coding	OTTHUMT00000461347.1	55	55	0	0.00	0	0	G	NM_145245	0	0		7913876	1	no_errors	ENST00000538904	ensembl	human	known	74_37	missense	36	40	33.33	24.53	18	13	SNP	0.977	A	A	7913876	G	A	7913876	3	1	75	1	0	0	0	0	1	0	0	0	5290	1174	41	3	407	3	EVI5L	19	7913876	Missense_Mutation	SNP	G	TCGA-XU-A92Z-01A-11D-A423-09		7913876	51215107	12	915											
MUC16	94025	genome.wustl.edu	37	chr19	9088508	9088508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatcagaaaatgtgtcaaCgaattggcttgtccttcctg	11	13	8	9	1	3	1	3	0	0	1	5	2	5	1	2	1	1	1	2	1	4	3	rs533537740		TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr19:9088508C>T	ENST00000397910.4	-	1	3510	c.3307G>A	c.(3307-3309)Gtt>Att	p.V1103I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1103	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						AATGTGTCAACGAATTGGCTT	0.433													C|||	1	0.000199681	8e-04	0	5008	,	,		25015	0		0	False		,,,				2504	0						0.9998,0.0001997											0													96	92	93					19																	9088508		2013	4189	6202	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3307G>A	19.37:g.9088508C>T	ENSP00000381008:p.Val1103Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.V1103I	ENST00000397910.4	37	c.3307	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	2.432	-0.330665	0.05314	.	.	ENSG00000181143	ENST00000397910	T	0.02421	4.3	1.51	-3.02	0.05446	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.45731	-0.9241	8	0.87932	D	0	.	3.0439	0.06147	0.5063:0.3152:0.0:0.1785	.	1103	B5ME49	.	I	1103	ENSP00000381008:V1103I	ENSP00000381008:V1103I	V	-	1	0	MUC16	8949508	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.928000	0.00690	-1.104000	0.03015	-0.704000	0.03662	GTT	0	NULL		0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	57	121	0	0.00	0	0	C	NM_024690	rs533537740	C->T		9088508	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	54	95	21.74	26.72	15	35	SNP	0	T	T	9088508	C	T	9088508	3	4	75	1	0	0	0	0	1	0	0	0	9973	536	19	1	40552	1	MUC16	19	9088508	Missense_Mutation	SNP	C	TCGA-XU-A92Z-01A-11D-A423-09	1174632	9088508	50040475	13	916											
ANGPTL6	83854	genome.wustl.edu	37	chr19	10205575	10205575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggtgctacccacaagacGgaccggaaccacaggcacca	13	3	10	15	2	0	1	0	0	0	1	0	3	0	3	4	4	3	2	4	4	3	1	rs140248826		TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr19:10205575G>C	ENST00000253109.4	-	3	860	c.622C>G	c.(622-624)Cgt>Ggt	p.R208G	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.R208G|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.R208G	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	208					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CCCACAAGACGGACCGGAACC	0.627																																							0											0													50	42	44					19																	10205575		2203	4300	6503	SO:0001583	missense	0			AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"Fibrinogen C domain containing"	23140	protein-coding gene	gene with protein product	"angiopoietin-related protein 5"	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.622C>G	19.37:g.10205575G>C	ENSP00000253109:p.Arg208Gly		A5PKV7|Q9BZZ0	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.R208G	ENST00000253109.4	37	c.622	CCDS12224.1	19	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.260466	0.01445	.	.	ENSG00000130812	ENST00000253109	T	0.52983	0.64	4.23	2.1	0.27182	.	1.753130	0.03221	N	0.177639	T	0.27900	0.0687	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16808	-1.0390	10	0.23891	T	0.37	.	5.3672	0.16121	0.0:0.1004:0.1847:0.7149	.	208	Q8NI99	ANGL6_HUMAN	G	208	ENSP00000253109:R208G	ENSP00000253109:R208G	R	-	1	0	ANGPTL6	10066575	0.393000	0.25237	0.435000	0.26784	0.121000	0.20230	1.378000	0.34328	0.765000	0.33221	-0.749000	0.03505	CGT	0	NULL		0.627	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL6	protein_coding	OTTHUMT00000451142.1	30	122	0	0.00	0	0	G	NM_031917	0	0		10205575	-1	no_errors	ENST00000253109	ensembl	human	known	74_37	missense	18	92	40.62	32.85	13	45	SNP	0.006	C	C	10205575	G	C	10205575	3	2	75	1	0	0	0	0	1	0	0	0	618	1116	39	5	806	5	ANGPTL6	19	10205575	Missense_Mutation	SNP	G	TCGA-XU-A92Z-01A-11D-A423-09	1117067	10205575	48923408	14	917											
SMARCA4	6597	genome.wustl.edu	37	chr19	11141406	11141406	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctcctctgtgcccgtcagGaaccacgaaggcggaggacc	8	7	12	14	3	3	0	1	0	2	0	4	4	3	3	4	4	2	0	4	4	2	1			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr19:11141406G>T	ENST00000429416.3	+	26	3664	c.3383G>T	c.(3382-3384)gGa>gTa	p.G1128V	SMARCA4_ENST00000444061.3_Splice_Site_p.G1128V|SMARCA4_ENST00000413806.3_Splice_Site_p.G1128V|SMARCA4_ENST00000450717.3_Splice_Site_p.G1128V|SMARCA4_ENST00000358026.2_Splice_Site_p.G1128V|SMARCA4_ENST00000589677.1_Splice_Site_p.G1128V|SMARCA4_ENST00000541122.2_Splice_Site_p.G1128V|SMARCA4_ENST00000344626.4_Splice_Site_p.G1128V|SMARCA4_ENST00000590574.1_Splice_Site_p.G1128V	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1128	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				TGCCCGTCAGGAACCACGAAG	0.622			"F, N, Mis"		NSCLC																																		0		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)											25	28	27					19																	11141406		2203	4299	6502	SO:0001630	splice_region_variant	0			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.3383-1G>T	19.37:g.11141406G>T			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.G1128V	ENST00000429416.3	37	c.3383	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412666	0.83340	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96682	0.8917	H	0.99983	5.215	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	0.98701	1.0700	9	.	.	.	.	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1128;1128;1128;1128;1128;348;1128;1128	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	V	1128;1128;1192;1128;1128;1128;1128;1128	ENSP00000395654:G1128V;ENSP00000350720:G1128V;ENSP00000343896:G1128V;ENSP00000445036:G1128V;ENSP00000392837:G1128V;ENSP00000397783:G1128V;ENSP00000414727:G1128V	.	G	+	2	0	SMARCA4	11002406	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.411000	0.97342	2.389000	0.81357	0.563000	0.77884	GGA	0	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	protein_coding	OTTHUMT00000452638.2	61	158	0	1.25	0	2	G	NM_003072	0	0	Missense_Mutation	11141406	1	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	48	149	26.15	35.78	17	83	SNP	1	T	T	11141406	G	T	11141406	5	4	75	1	0	0	0	0	0	0	1	0	14770	1188	41	5	3477	5	SMARCA4	19	11141406	Splice_Site	SNP	G	TCGA-XU-A92Z-01A-11D-A423-09	935831	11141406	47987577	15	918											
ZNF714	148206	genome.wustl.edu	37	chr19	21300350	21300350	+	Frame_Shift_Del	DEL	A	A	-																															aagaatgtgacaaagcttttAaccgattctcataccttact																										TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr19:21300350delA	ENST00000596143.1	+	5	1205	c.880delA	c.(880-882)aacfs	p.N294fs	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	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)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CAAAGCTTTTAACCGATTCTC	0.353																																							0											0													24	26	25					19																	21300350		2182	4290	6472	SO:0001589	frameshift_variant	0			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.880delA	19.37:g.21300350delA	ENSP00000472368:p.Asn294fs		Q49AI1|Q86W65|Q8ND40	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.N294fs	ENST00000596143.1	37	c.880	CCDS54239.1	19																																																																																			0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	protein_coding	OTTHUMT00000463930.1	43	78	0	0.00	0	0	A	NM_182515	0	0		21300350	1	no_errors	ENST00000596143	ensembl	human	known	74_37	frame_shift_del	37	64	27.45	24.71	14	21	DEL	0.085	0	-	21300350	A	-	21300350	7	5	75	1	0	1	0	1	0	0	0	0	18115	362	13	0	890	0	ZNF714	19	21300350	Frame_Shift_Del	DEL	A	TCGA-XU-A92Z-01A-11D-A423-09	10158944	21300350	37828633	16	919											
NF2	4771	genome.wustl.edu	37	chr22	30050679	30050679	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accccagtgttcacaagcggGgatttttggcccaagaggaa	11	8	12	10	1	1	1	1	0	0	1	1	3	1	3	3	4	1	1	3	4	3	3			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr22:30050679G>T	ENST00000338641.4	+	5	922	c.481G>T	c.(481-483)Gga>Tga	p.G161*	NF2_ENST00000403435.1_Nonsense_Mutation_p.G161*|NF2_ENST00000403999.3_Nonsense_Mutation_p.G161*|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Nonsense_Mutation_p.G119*|NF2_ENST00000334961.7_Nonsense_Mutation_p.G78*|NF2_ENST00000397789.3_Nonsense_Mutation_p.G161*|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Nonsense_Mutation_p.G120*|NF2_ENST00000353887.4_Nonsense_Mutation_p.G78*|NF2_ENST00000361166.4_Nonsense_Mutation_p.G161*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	161	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.?(3)|p.G161*(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						TCACAAGCGGGGATTTTTGGC	0.428			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																														0	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	4	Unknown(3)|Substitution - Nonsense(1)	meninges(1)|large_intestine(1)|stomach(1)|central_nervous_system(1)											144	147	146					22																	30050679		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	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.481G>T	22.37:g.30050679G>T	ENSP00000344666:p.Gly161*		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.G161*	ENST00000338641.4	37	c.481	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	G	41	8.739335	0.98935	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	X	161;161;120;161;161;78;78;161;119;161	.	.	G	+	1	0	NF2	28380679	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.705000	0.98719	2.840000	0.97914	0.655000	0.94253	GGA	0	pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.428	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	protein_coding	OTTHUMT00000075615.3	60	255	0	0.00	0	0	G	NM_000268	0	0		30050679	1	no_errors	ENST00000338641	ensembl	human	known	74_37	nonsense	23	98	42.86	52.20	18	107	SNP	1	T	T	30050679	G	T	30050679	4	4	75	1	0	0	0	0	0	1	0	0	10357	1233	43	5	499	5	NF2	22	30050679	Nonsense_Mutation	SNP	G	TCGA-XU-A92Z-01A-11D-A423-09		30050679	21253887	17	920											
C22orf24	25775	genome.wustl.edu	37	chr22	32330345	32330345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgtgtgattgaagaaagGgagaaatccagctctgtggg	11	9	14	7	0	1	4	0	2	1	2	2	5	2	4	2	2	1	1	2	2	3	1			TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chr22:32330345G>T	ENST00000248984.3	-	3	408	c.242C>A	c.(241-243)cCc>cAc	p.P81H	C22orf24_ENST00000543051.1_Missense_Mutation_p.P148H|C22orf24_ENST00000486651.1_5'UTR	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	81						integral component of membrane (GO:0016021)				central_nervous_system(1)|urinary_tract(1)	2						ttgaagaaagggagaaatcca	0.532																																							0											0													89	92	91					22																	32330345		2020	4191	6211	SO:0001583	missense	0				CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.242C>A	22.37:g.32330345G>T	ENSP00000248984:p.Pro81His		B2RCT4|Q5K3R1	Missense_Mutation	SNP	NULL	p.P148H	ENST00000248984.3	37	c.443	CCDS46693.1	22	.	.	.	.	.	.	.	.	.	.	G	6.193	0.403805	0.11754	.	.	ENSG00000128254	ENST00000248984;ENST00000543051	T;T	0.47528	0.84;0.84	3.68	-2.58	0.06228	.	.	.	.	.	T	0.22513	0.0543	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.20577	0.03	T	0.18650	-1.0330	9	0.87932	D	0	.	3.5958	0.08005	0.476:0.0:0.3291:0.1949	.	81	Q9Y442	CV024_HUMAN	H	81;148	ENSP00000248984:P81H;ENSP00000437643:P148H	ENSP00000248984:P81H	P	-	2	0	C22orf24	30660345	0.004000	0.15560	0.007000	0.13788	0.085000	0.17905	-0.320000	0.08028	-0.433000	0.07286	-0.397000	0.06425	CCC	0	NULL		0.532	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C22orf24	protein_coding	OTTHUMT00000075722.2	48	158	0	0.00	0	0	G	NM_015372	0	0		32330345	-1	no_errors	ENST00000543051	ensembl	human	known	74_37	missense	34	95	24.44	23.39	11	29	SNP	0.009	T	T	32330345	G	T	32330345	3	4	75	1	0	0	0	0	1	0	0	0	2138	1232	43	5	244	5	C22orf24	22	32330345	Missense_Mutation	SNP	G	TCGA-XU-A92Z-01A-11D-A423-09	2279666	32330345	18974221	18	921											
CUL4B	8450	genome.wustl.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-																															ttgcagcagttggtgaagatGaggaggaggaggaggaggat																										TCGA-XU-A92Z-01A-11D-A423-09	TCGA-XU-A92Z-10A-01D-A426-09	GAG	GAG	GAG	-	GAG	GAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec301622-3933-4ba4-8190-7bb2a99e3a8d	281773d4-370a-40bc-aa2e-eaa2777e70f3	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S|CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	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						TGGTGAAGATgaggaggaggagg	0.488																																							0											0									,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	0			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.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	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.S146in_frame_del	ENST00000404115.3	37	c.431_429	CCDS35379.1	X																																																																																			0	NULL		0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	protein_coding	OTTHUMT00000058103.1	36	76	2.7	1.30	1	1	GAG	NM_003588	0	0		119694119	-1	no_errors	ENST00000404115	ensembl	human	known	74_37	in_frame_del	31	110	11.43	5.17	4	6	DEL	0.999:1.000:1.000	0	-	119694119	GAG	-	119694117	7	5	75	1	0	1	0	1	0	0	0	0	4058	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-XU-A92Z-01A-11D-A423-09		119694117	35576443	19	922											
DMAP1	55929	genome.wustl.edu	37	chr1	44685818	44685818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagatgctgcggcaccGtcatgaggcactggcccggg	6	6	16	13	3	1	2	1	1	0	1	1	2	1	2	2	4	3	5	2	4	0	0			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr1:44685818G>A	ENST00000372289.2	+	9	1444	c.1181G>A	c.(1180-1182)cGt>cAt	p.R394H	DMAP1_ENST00000361745.6_Missense_Mutation_p.R394H|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.R394H	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	394					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CTGCGGCACCGTCATGAGGCA	0.647											OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													23	23	23					1																	44685818		2202	4299	6501	SO:0001583	missense	0			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.1181G>A	1.37:g.44685818G>A	ENSP00000361363:p.Arg394His	925	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	pfam_DMAP1,superfamily_Homeodomain-like	p.R394H	ENST00000372289.2	37	c.1181	CCDS509.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.167525	0.94768	.	.	ENSG00000178028	ENST00000361745;ENST00000315913;ENST00000372289	.	.	.	5.09	5.09	0.68999	DNA methyltransferase 1-associated 1 (2);	0.000000	0.85682	D	0.000000	T	0.78886	0.4354	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.986	T	0.80299	-0.1441	9	0.54805	T	0.06	-16.0095	18.5035	0.90890	0.0:0.0:1.0:0.0	.	384;394	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	H	394	.	ENSP00000312697:R394H	R	+	2	0	DMAP1	44458405	1.000000	0.71417	0.902000	0.35471	0.988000	0.76386	9.218000	0.95166	2.376000	0.81061	0.563000	0.77884	CGT	0	pfam_DMAP1		0.647	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMAP1	protein_coding	OTTHUMT00000020027.3	29	22	0	0.00	0	0	G	NM_019100	0	0		44685818	1	no_errors	ENST00000315913	ensembl	human	known	74_37	missense	38	10	7.32	0.00	3	0	SNP	1	A	A	44685818	G	A	44685818	3	1	76	1	0	0	0	0	1	0	0	0	4576	1145	40	1	1215	1	DMAP1	1	44685818	Missense_Mutation	SNP	G	TCGA-XU-A930-01A-11D-A423-09		44685818	204564803	1	923											
KCNN3	3782	genome.wustl.edu	37	chr1	154842253	154842253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgaagctgcggaGgctgaggctgcagcgagggt	6	7	19	9	2	0	2	0	2	0	0	0	4	0	3	0	4	6	7	0	4	1	0			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr1:154842253G>A	ENST00000271915.4	-	1	503	c.188C>T	c.(187-189)cCt>cTt	p.P63L	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	63	Gln-rich.|Pro-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	aagctgcggaggctgaggctg	0.697																																							0											0													6	4	5					1																	154842253		1984	3925	5909	SO:0001583	missense	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.188C>T	1.37:g.154842253G>A	ENSP00000271915:p.Pro63Leu		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	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.P63L	ENST00000271915.4	37	c.188	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	g	10.39	1.337246	0.24253	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	T	0.55413	0.52	5.07	3.18	0.36537	.	1.727610	0.03258	N	0.182822	T	0.16811	0.0404	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.19128	-1.0315	8	0.23302	T	0.38	-4.1487	6.4327	0.21807	0.0918:0.0:0.7284:0.1798	.	.	.	.	L	63;158	ENSP00000271915:P63L	ENSP00000271915:P63L	P	-	2	0	KCNN3	153108877	0.863000	0.29885	1.000000	0.80357	0.998000	0.95712	1.873000	0.39558	0.823000	0.34589	0.563000	0.77884	CCT	0	NULL		0.697	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	protein_coding	OTTHUMT00000090688.3	29	6	0	0.00	0	0	G	NM_002249	0	0		154842253	-1	no_errors	ENST00000271915	ensembl	human	novel	74_37	missense	54	8	9.23	0.00	6	0	SNP	0.985	A	A	154842253	G	A	154842253	3	1	76	1	0	0	0	0	1	0	0	0	8080	1000	35	3	2061	3	KCNN3	1	154842253	Missense_Mutation	SNP	G	TCGA-XU-A930-01A-11D-A423-09	110156435	154842253	94408368	2	924											
DNM3	26052	genome.wustl.edu	37	chr1	171956945	171956945	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgagtctattccccacacGgtaagtaaaataataaaatt	17	11	5	8	2	1	0	0	0	1	0	2	1	2	0	2	1	1	2	2	1	8	8	rs371617456		TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr1:171956945G>A	ENST00000355305.5	+	3	542	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	DNM3_ENST00000520906.1_Splice_Site_p.V129M|DNM3_ENST00000367733.2_Splice_Site_p.V129M|DNM3_ENST00000358155.4_Splice_Site_p.V129M|DNM3_ENST00000367731.1_Splice_Site_p.V129M			Q9UQ16	DYN3_HUMAN	dynamin 3	129	Dynamin-type G.				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)	p.V129M(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTCCCCACACGGTAAGTAAAA	0.348																																							0											1	Substitution - Missense(1)	kidney(1)						G	MET/VAL,MET/VAL	0,3650		0,0,1825	96	101	99		385,385	5.3	1	1		99	1,8153		0,1,4076	no	missense-near-splice,missense-near-splice	DNM3	NM_001136127.1,NM_015569.3	21,21	0,1,5901	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging,probably-damaging	129/860,129/864	171956945	1,11803	1825	4077	5902	SO:0001630	splice_region_variant	0			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.385+1G>A	1.37:g.171956945G>A			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.V129M	ENST00000355305.5	37	c.385		1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535248	0.85812	0.0	1.23E-4	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.27	5.27	0.74061	.	0.057000	0.64402	D	0.000001	D	0.98738	0.9576	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.99;1.0;0.999;1.0	P;D;D;D	0.71414	0.883;0.925;0.914;0.973	D	0.99679	1.0998	10	0.72032	D	0.01	.	17.4722	0.87649	0.0:0.0:1.0:0.0	.	129;129;129;129	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	M	129;129;129;129;129;129;19	ENSP00000350876:V129M;ENSP00000356707:V129M;ENSP00000347457:V129M;ENSP00000356705:V129M;ENSP00000429701:V129M;ENSP00000429416:V19M	ENSP00000347457:V129M	V	+	1	0	DNM3	170223568	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.731000	0.98807	2.455000	0.83008	0.655000	0.94253	GTG	0	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF		0.348	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	protein_coding	OTTHUMT00000084531.1	22	297	0	0.00	0	0	G	NM_015569	rs371617456	G->A	Missense_Mutation	171956945	1	no_errors	ENST00000358155	ensembl	human	known	74_37	missense	66	341	15.38	10.70	12	41	SNP	1	A	A	171956945	G	A	171956945	5	1	76	1	0	0	0	0	0	0	1	0	4673	1130	39	2	395	2	DNM3	1	171956945	Splice_Site	SNP	G	TCGA-XU-A930-01A-11D-A423-09	17114692	171956945	77293676	3	925											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202464470	202464470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccagacaaacccaccaCgccagcatctccttctacgt	11	7	5	18	2	3	1	1	0	2	1	4	1	3	1	5	0	4	1	5	0	2	2	rs143792888		TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr1:202464470C>T	ENST00000608999.1	+	16	2348	c.2195C>T	c.(2194-2196)aCg>aTg	p.T732M	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.T732M|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000367270.4_5'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	732					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)			AAACCCACCACGCCAGCATCT	0.468													C|||	1	0.000199681	0	0	5008	,	,		13898	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0								C	MET/THR,,	7,4399	12.9+/-30.5	0,7,2196	130	128	129		2195,,	3.8	0	1	dbSNP_134	129	0,8600		0,0,4300	no	missense,utr-5,utr-5	PPP1R12B	NM_002481.3,NM_032103.2,NM_032104.2	81,,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	possibly-damaging,,	732/983,,	202464470	7,12999	2203	4300	6503	SO:0001583	missense	0			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.2195C>T	1.37:g.202464470C>T	ENSP00000476755:p.Thr732Met		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.T732M	ENST00000608999.1	37	c.2195	CCDS1426.1	1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466431	0.43839	0.001589	0.0	ENSG00000077157	ENST00000406302;ENST00000336894	T;T	0.03094	4.05;4.05	5.76	3.84	0.44239	.	0.644862	0.15087	N	0.281335	T	0.07503	0.0189	L	0.50333	1.59	0.37025	D	0.896408	P;P	0.49307	0.814;0.922	B;P	0.50440	0.265;0.641	T	0.35549	-0.9784	10	0.41790	T	0.15	.	9.2996	0.37838	0.1471:0.7748:0.0:0.0781	.	732;732	O60237;F8W8M3	MYPT2_HUMAN;.	M	732	ENSP00000384496:T732M;ENSP00000337897:T732M	ENSP00000337897:T732M	T	+	2	0	PPP1R12B	200731093	0.016000	0.18221	0.029000	0.17559	0.689000	0.40095	1.203000	0.32284	1.548000	0.49413	0.650000	0.86243	ACG	0	pirsf_Pase-1_reg_su_12A/B/C_euk		0.468	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	protein_coding	OTTHUMT00000099166.3	174	195	0	0.51	0	1	C	NM_032105	rs143792888	C->T		202464470	1	no_errors	ENST00000336894	ensembl	human	known	74_37	missense	344	220	10.65	7.17	41	17	SNP	0.331	T	T	202464470	C	T	202464470	3	4	76	1	0	0	0	0	1	0	0	0	12355	536	19	1	2347	1	PPP1R12B	1	202464470	Missense_Mutation	SNP	C	TCGA-XU-A930-01A-11D-A423-09	30507525	202464470	46786151	4	926											
OR2T2	401992	genome.wustl.edu	37	chr1	248616514	248616514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaccctctcctcatgaaccGcagggtttgcttattcatgg	7	13	9	12	1	3	1	2	1	1	0	4	1	3	1	3	2	3	4	3	2	3	4	rs201885657		TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr1:248616514G>T	ENST00000342927.3	+	1	438	c.416G>T	c.(415-417)cGc>cTc	p.R139L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	139						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)			CTCATGAACCGCAGGGTTTGC	0.542																																							0											0													46	53	51					1																	248616514		2202	4280	6482	SO:0001583	missense	0			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.416G>T	1.37:g.248616514G>T	ENSP00000343062:p.Arg139Leu		B2RNM1|B9EH01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R139L	ENST00000342927.3	37	c.416	CCDS31116.1	1	.	.	.	.	.	.	.	.	.	.	g	3.469	-0.108314	0.06924	.	.	ENSG00000196240	ENST00000342927	T	0.01369	4.97	3.72	0.0921	0.14471	GPCR, rhodopsin-like superfamily (1);	0.286741	0.25275	N	0.031842	T	0.01254	0.0041	L	0.38953	1.18	0.09310	N	1	B	0.26195	0.144	B	0.25987	0.065	T	0.46176	-0.9210	10	0.59425	D	0.04	.	3.0819	0.06265	0.4906:0.0:0.3105:0.1989	.	139	Q6IF00	OR2T2_HUMAN	L	139	ENSP00000343062:R139L	ENSP00000343062:R139L	R	+	2	0	OR2T2	246683137	0.000000	0.05858	0.089000	0.20774	0.071000	0.16799	-2.005000	0.01460	0.175000	0.19841	0.449000	0.29647	CGC	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	protein_coding	OTTHUMT00000097421.1	53	125	0	1.57	0	2	G	NM_001004136	0	0		248616514	1	no_errors	ENST00000342927	ensembl	human	known	74_37	missense	94	117	9.62	11.36	10	15	SNP	0	T	T	248616514	G	T	248616514	3	4	76	1	0	0	0	0	1	0	0	0	11020	1087	38	5	418	5	OR2T2	1	248616514	Missense_Mutation	SNP	G	TCGA-XU-A930-01A-11D-A423-09	46152044	248616514	634107	5	927											
SNTG2	54221	genome.wustl.edu	37	chr2	946704	946704	+	Frame_Shift_Del	DEL	C	C	-																															tgggcaccgagggacccccgCccccggccgcctcccgcgga																										TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr2:946704delC	ENST00000308624.5	+	1	151	c.22delC	c.(22-24)cccfs	p.P9fs	SNTG2_ENST00000407292.1_Frame_Shift_Del_p.P9fs|AC116614.1_ENST00000456949.1_RNA	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	9	Poly-Pro.				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)		GGGACCCCCGCCCCCGGCCGC	0.796																																							0											0													1	1	1					2																	946704		396	968	1364	SO:0001589	frameshift_variant	0			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.22delC	2.37:g.946704delC	ENSP00000311837:p.Pro9fs		Q05AH5	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P9fs	ENST00000308624.5	37	c.22	CCDS46220.1	2																																																																																			0	NULL		0.796	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	protein_coding	OTTHUMT00000322454.1	11	10	0	0.00	0	0	C	NM_018968	0	0		946704	1	no_errors	ENST00000308624	ensembl	human	known	74_37	frame_shift_del	4	4	33.33	0.00	2	0	DEL	0.372	0	-	946704	C	-	946704	7	5	76	1	0	1	0	1	0	0	0	0	14875	739	26	0	24	0	SNTG2	2	946704	Frame_Shift_Del	DEL	C	TCGA-XU-A930-01A-11D-A423-09		946704	242252669	6	928											
SLC9A2	6549	genome.wustl.edu	37	chr2	103324903	103324903	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctggtctggagggcatcGgaacctggaagccggaaagc	9	5	17	10	3	1	0	0	0	1	0	2	4	1	4	2	7	3	2	2	7	3	0			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr2:103324903G>A	ENST00000233969.2	+	12	2536	c.2394G>A	c.(2392-2394)tcG>tcA	p.S798S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	798					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						GGAGGGCATCGGAACCTGGAA	0.567																																							0											0													59	70	67					2																	103324903		2203	4300	6503	SO:0001819	synonymous_variant	0				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.2394G>A	2.37:g.103324903G>A			B2RMS2	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S798	ENST00000233969.2	37	c.2394	CCDS2062.1	2																																																																																			0	prints_Na/H_exchanger_2		0.567	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	protein_coding	OTTHUMT00000253292.2	29	233	0	0.00	0	0	G		0	0		103324903	1	no_errors	ENST00000233969	ensembl	human	known	74_37	silent	38	131	7.32	18.12	3	29	SNP	0.451	A	A	103324903	G	A	103324903	2	1	76	1	0	0	0	0	0	0	0	1	14712	1103	39	2		2	SLC9A2	2	103324903	Silent	SNP	G	TCGA-XU-A930-01A-11D-A423-09	102378199	103324903	139874470	7	929											
COL5A2	1290	genome.wustl.edu	37	chr2	189909916	189909916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacttacaggtaatccacGtttcccagctcgaccaggtg	11	9	9	12	2	0	1	0	0	0	1	3	2	2	1	3	2	3	3	3	2	3	3			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr2:189909916G>A	ENST00000374866.3	-	47	3626	c.3352C>T	c.(3352-3354)Cgt>Tgt	p.R1118C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1118					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)			GGTAATCCACGTTTCCCAGCT	0.299																																							0											0													28	30	30					2																	189909916		2202	4299	6501	SO:0001583	missense	0			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.3352C>T	2.37:g.189909916G>A	ENSP00000364000:p.Arg1118Cys		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.R1118C	ENST00000374866.3	37	c.3352	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	16.65	3.180946	0.57800	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.93426	-3.22	5.74	5.74	0.90152	.	0.000000	0.48286	D	0.000196	D	0.96642	0.8904	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96676	0.9500	10	0.72032	D	0.01	.	12.5524	0.56233	0.0:0.0:0.8231:0.1769	.	758;1118	Q5PR22;P05997	.;CO5A2_HUMAN	C	1118;758	ENSP00000364000:R1118C	ENSP00000364000:R1118C	R	-	1	0	COL5A2	189618161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.235000	0.51328	2.715000	0.92844	0.655000	0.94253	CGT	0	pfam_Collagen		0.299	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	protein_coding	OTTHUMT00000313523.1	85	151	0	0.66	0	1	G	NM_000393	0	0		189909916	-1	no_errors	ENST00000374866	ensembl	human	known	74_37	missense	144	98	15.12	8.41	26	9	SNP	1	A	A	189909916	G	A	189909916	3	1	76	1	0	0	0	0	1	0	0	0	3697	1145	40	1	1179	1	COL5A2	2	189909916	Missense_Mutation	SNP	G	TCGA-XU-A930-01A-11D-A423-09	86585013	189909916	53289457	8	930											
BMP5	653	genome.wustl.edu	37	chr6	55638913	55638913	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgcggttttgattttttcGtttgttggctgctctcacgg	3	20	11	7	3	1	1	1	1	1	0	3	1	1	1	0	3	2	5	0	3	0	8	rs550837639		TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr6:55638913G>A	ENST00000370830.3	-	4	1659	c.961C>T	c.(961-963)Cga>Tga	p.R321*	BMP5_ENST00000446683.2_Nonsense_Mutation_p.R321*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	321					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.R321*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGATTTTTTCGTTTGTTGGCT	0.473													G|||	1	0.000199681	8e-04	0	5008	,	,		18020	0		0	False		,,,				2504	0						0.9998,0.0001997											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											202	173	183					6																	55638913		2203	4300	6503	SO:0001587	stop_gained	0				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.961C>T	6.37:g.55638913G>A	ENSP00000359866:p.Arg321*		B4E0Y4|Q9H547|Q9NTM5	Nonsense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.R321*	ENST00000370830.3	37	c.961	CCDS4958.1	6	.	.	.	.	.	.	.	.	.	.	G	43	10.295298	0.99378	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	.	.	.	5.74	-0.0584	0.13797	.	0.052929	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0604	0.86546	0.0:0.0:0.1964:0.8036	.	.	.	.	X	321	.	ENSP00000359866:R321X	R	-	1	2	BMP5	55746872	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	1.558000	0.36309	0.033000	0.15463	0.655000	0.94253	CGA	0	NULL		0.473	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	protein_coding	OTTHUMT00000041000.1	86	328	0	0.30	0	1	G		rs550837639	G->A		55638913	-1	no_errors	ENST00000370830	ensembl	human	known	74_37	nonsense	79	155	22.55	22.11	23	44	SNP	1	A	A	55638913	G	A	55638913	4	1	76	1	0	0	0	0	0	1	0	0	1463	1153	40	1	419	1	BMP5	6	55638913	Nonsense_Mutation	SNP	G	TCGA-XU-A930-01A-11D-A423-09		55638913	115476154	9	931											
ZAN	7455	genome.wustl.edu	37	chr7	100395209	100395209	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttctagagagaaaacgCaggagggagacagactggcc	13	5	14	9	1	1	4	0	0	1	4	1	7	1	5	2	3	2	1	2	3	3	2			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr7:100395209C>T	ENST00000348028.3	+	0	8268				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_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)			AGAGAAAACGCAGGAGGGAGA	0.612																																							0											0													45	51	49					7																	100395209		1870	4095	5965			0			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.100395209C>T			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.Q2701*	ENST00000348028.3	37	c.8101		7	.	.	.	.	.	.	.	.	.	.	c	59	37.158500	0.99984	.	.	ENSG00000146839	ENST00000546292;ENST00000546213	.	.	.	4.55	1.72	0.24424	.	.	.	.	.	.	.	.	.	.	.	0.30065	N	0.810528	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9783	0.19393	0.0:0.676:0.0:0.3239	.	.	.	.	X	2701;1165	.	ENSP00000441117:Q1165X	Q	+	1	0	ZAN	100233145	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.049000	0.14099	0.613000	0.30089	0.645000	0.84053	CAG	0	NULL		0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	42	165	0	0.00	0	0	C	NM_003386	0	0		100395209	1	no_errors	ENST00000546292	ensembl	human	known	74_37	nonsense	47	103	16.07	8.85	9	10	SNP	0	T	T	100395209	C	T	100395209	1	4	76	0	1	0	0	0	0	0	0	0	17510	711	25	3		3	ZAN	7	100395209	RNA	SNP	C	TCGA-XU-A930-01A-11D-A423-09		100395209	58743454	10	932											
PSMC2	5701	genome.wustl.edu	37	chr7	103008481	103008481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaattcagtgctactcctCgttacatgacatacaactga	13	11	5	12	1	1	2	1	2	0	0	3	2	2	2	2	0	5	2	2	0	5	4			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr7:103008481C>T	ENST00000435765.1	+	13	1693	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	PSMC2_ENST00000544811.1_Missense_Mutation_p.R291C|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.R428C	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	428					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						TGCTACTCCTCGTTACATGAC	0.368																																							0											0													68	66	67					7																	103008481		2203	4300	6503	SO:0001583	missense	0			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.1282C>T	7.37:g.103008481C>T	ENSP00000391211:p.Arg428Cys		A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.R428C	ENST00000435765.1	37	c.1282	CCDS5731.1	7	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680952	0.68042	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.94758	-3.51;-3.51;-3.45	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.90086	0.6903	N	0.22421	0.69	0.80722	D	1	D	0.63046	0.992	B	0.42916	0.402	D	0.91570	0.5271	10	0.87932	D	0	-5.6197	14.2355	0.65925	0.1492:0.8508:0.0:0.0	.	428	P35998	PRS7_HUMAN	C	428;428;291	ENSP00000391211:R428C;ENSP00000292644:R428C;ENSP00000445546:R291C	ENSP00000292644:R428C	R	+	1	0	PSMC2	102795717	0.836000	0.29430	0.998000	0.56505	0.969000	0.65631	1.671000	0.37513	2.573000	0.86826	0.644000	0.83932	CGT	0	NULL		0.368	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC2	protein_coding	OTTHUMT00000347922.1	26	167	0	0.00	0	0	C	NM_002803	0	0		103008481	1	no_errors	ENST00000292644	ensembl	human	known	74_37	missense	34	155	27.66	10.40	13	18	SNP	0.994	T	T	103008481	C	T	103008481	3	4	76	1	0	0	0	0	1	0	0	0	12686	884	31	2	1328	2	PSMC2	7	103008481	Missense_Mutation	SNP	C	TCGA-XU-A930-01A-11D-A423-09	2613272	103008481	56130182	11	933											
EED	8726	genome.wustl.edu	37	chr11	85979560	85979560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagacatacataggaattAtgttgattgtgtgcgatggt	12	13	12	4	1	0	2	0	1	0	1	0	5	0	3	0	2	2	1	0	2	4	5			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr11:85979560A>G	ENST00000263360.6	+	9	1609	c.923A>G	c.(922-924)tAt>tGt	p.Y308C	EED_ENST00000351625.6_Missense_Mutation_p.Y308C|EED_ENST00000327320.4_Missense_Mutation_p.Y308C|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	308	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)				CATAGGAATTATGTTGATTGT	0.363																																							0											0													244	230	235					11																	85979560		2202	4299	6501	SO:0001583	missense	0			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.923A>G	11.37:g.85979560A>G	ENSP00000263360:p.Tyr308Cys		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y308C	ENST00000263360.6	37	c.923	CCDS8273.1	11	.	.	.	.	.	.	.	.	.	.	A	25.6	4.655385	0.88056	.	.	ENSG00000074266	ENST00000263360;ENST00000351625;ENST00000327320;ENST00000533228;ENST00000534564	T;T;T	0.55588	0.51;1.57;0.51	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	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;1.0;1.0	T	0.77707	-0.2487	9	.	.	.	-19.4386	16.1135	0.81278	1.0:0.0:0.0:0.0	.	308;308;308	O75530-3;O75530-2;O75530	.;.;EED_HUMAN	C	308;308;308;101;57	ENSP00000263360:Y308C;ENSP00000338186:Y308C;ENSP00000315587:Y308C	.	Y	+	2	0	EED	85657208	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.144000	0.94629	2.267000	0.75376	0.383000	0.25322	TAT	0	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.363	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EED	protein_coding	OTTHUMT00000393733.1	45	158	0	0.00	0	0	A	NM_003797	0	0		85979560	1	no_errors	ENST00000263360	ensembl	human	known	74_37	missense	35	87	23.91	18.69	11	20	SNP	1	G	G	85979560	A	G	85979560	3	3	76	1	0	0	0	0	1	0	0	0	4922	449	16	3	957	3	EED	11	85979560	Missense_Mutation	SNP	A	TCGA-XU-A930-01A-11D-A423-09		85979560	49026956	12	934											
MCRS1	10445	genome.wustl.edu	37	chr12	49953267	49953267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcaggtaccgcaccatgCggccccgcagcactgccagt	8	5	11	17	3	1	0	1	0	0	0	1	0	1	0	5	2	4	5	5	2	1	1			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr12:49953267C>T	ENST00000550165.1	-	13	1321	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000343810.4_Missense_Mutation_p.R352H|MCRS1_ENST00000357123.4_Missense_Mutation_p.R365H|MCRS1_ENST00000546244.1_Missense_Mutation_p.R161H			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	352					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						CCGCACCATGCGGCCCCGCAG	0.617																																							0											0													66	66	66					12																	49953267		2203	4300	6503	SO:0001583	missense	0			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.1055G>A	12.37:g.49953267C>T	ENSP00000448056:p.Arg352His		O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R365H	ENST00000550165.1	37	c.1094	CCDS8787.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.640487	0.96693	.	.	ENSG00000187778	ENST00000551598;ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123	D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69	5.84	5.84	0.93424	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.047810	0.85682	D	0.000000	D	0.89058	0.6607	M	0.64997	1.995	0.80722	D	1	B;P	0.39759	0.266;0.687	B;B	0.35278	0.019;0.199	D	0.89165	0.3533	10	0.49607	T	0.09	-14.0528	17.6396	0.88132	0.0:1.0:0.0:0.0	.	352;365	Q96EZ8;Q96EZ8-2	MCRS1_HUMAN;.	H	61;161;352;352;365	ENSP00000448947:R61H;ENSP00000444982:R161H;ENSP00000345358:R352H;ENSP00000448056:R352H;ENSP00000349640:R365H	ENSP00000345358:R352H	R	-	2	0	MCRS1	48239534	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.364000	0.79526	2.764000	0.94973	0.650000	0.86243	CGC	0	superfamily_SMAD_FHA_domain		0.617	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	protein_coding	OTTHUMT00000405102.1	24	57	0	0.00	0	0	C	NM_006337	0	0		49953267	-1	no_errors	ENST00000357123	ensembl	human	known	74_37	missense	14	42	17.65	4.55	3	2	SNP	1	T	T	49953267	C	T	49953267	3	4	76	1	0	0	0	0	1	0	0	0	9399	768	27	1	349	1	MCRS1	12	49953267	Missense_Mutation	SNP	C	TCGA-XU-A930-01A-11D-A423-09		49953267	83898628	13	935											
PHLDA1	22822	genome.wustl.edu	37	chr12	76424507	76424507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctgaggcttgggttgggGctgaggctggggttgtgatt	3	12	22	4	0	0	3	0	3	0	0	0	3	0	3	0	8	0	6	0	8	0	4			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr12:76424507G>A	ENST00000266671.5	-	1	3205	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S	PHLDA1_ENST00000602540.1_Missense_Mutation_p.P198S|RP11-290L1.2_ENST00000547721.1_RNA|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	339	15 X 2 AA repeats of P-Q.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				ttgggttggggctgaggctgg	0.687																																							0											0													81	58	66					12																	76424507		2095	4127	6222	SO:0001583	missense	0			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"proline-histidine rich protein"	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.1015C>T	12.37:g.76424507G>A	ENSP00000266671:p.Pro339Ser		A1A4G9|Q15184|Q2TAN2|Q9NZ17	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.P339S	ENST00000266671.5	37	c.1015	CCDS31861.1	12	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254680	0.22965	.	.	ENSG00000139289	ENST00000266671	T	0.70399	-0.48	4.62	1.66	0.24008	.	0.592670	0.13933	N	0.352733	T	0.47691	0.1459	N	0.11927	0.2	0.19300	N	0.999977	B	0.13145	0.007	B	0.13407	0.009	T	0.40156	-0.9578	10	0.87932	D	0	-6.5865	3.7077	0.08407	0.0824:0.1438:0.4779:0.2958	.	339	Q8WV24	PHLA1_HUMAN	S	339	ENSP00000266671:P339S	ENSP00000266671:P339S	P	-	1	0	PHLDA1	74710774	0.973000	0.33851	0.073000	0.20177	0.979000	0.70002	1.431000	0.34925	0.246000	0.21394	0.561000	0.74099	CCC	0	NULL		0.687	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHLDA1	protein_coding	OTTHUMT00000405846.2	31	42	0	0.00	0	0	G	NM_007350	0	0		76424507	-1	no_errors	ENST00000266671	ensembl	human	known	74_37	missense	33	38	26.67	17.02	12	8	SNP	0.313	A	A	76424507	G	A	76424507	3	1	76	1	0	0	0	0	1	0	0	0	11848	1203	42	3	194	3	PHLDA1	12	76424507	Missense_Mutation	SNP	G	TCGA-XU-A930-01A-11D-A423-09	26471240	76424507	57427388	14	936											
PPFIA2	8499	genome.wustl.edu	37	chr12	81799641	81799641	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatccctcgcttgatgccatTtttctttgtatatgaacatt	8	18	6	9	1	1	2	0	2	1	0	3	3	2	2	2	0	2	2	2	0	3	7			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr12:81799641T>G	ENST00000549396.1	-	8	847	c.687A>C	c.(685-687)aaA>aaC	p.K229N	PPFIA2_ENST00000550584.2_Missense_Mutation_p.K229N|PPFIA2_ENST00000552948.1_Missense_Mutation_p.K229N|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000443686.3_Missense_Mutation_p.K130N|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K155N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K211N|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K76N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K211N|PPFIA2_ENST00000548586.1_Missense_Mutation_p.K229N|PPFIA2_ENST00000545296.2_5'UTR	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	229	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						TTGATGCCATTTTTCTTTGTA	0.383																																							0											0													89	81	83					12																	81799641		1888	4113	6001	SO:0001583	missense	0			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.687A>C	12.37:g.81799641T>G	ENSP00000450337:p.Lys229Asn		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.K229N	ENST00000549396.1	37	c.687	CCDS55857.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.02|14.02	2.411805|2.411805	0.42817|0.42817	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	T;T;T;T;T;T;T|T	0.46819|0.37584	0.86;0.86;0.86;0.86;0.86;1.43;0.86|1.19	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.33673|0.33673	0.0871|0.0871	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	B;P|.	0.40211|.	0.358;0.707|.	B;B|.	0.35971|.	0.215;0.188|.	T|T	0.08722|0.08722	-1.0708|-1.0708	10|8	0.18710|0.18710	T|T	0.47|0.47	-30.3313|-30.3313	8.7653|8.7653	0.34700|0.34700	0.0:0.0871:0.0:0.9129|0.0:0.0871:0.0:0.9129	.|.	129;229|.	B7Z4H8;O75334|.	.;LIPA2_HUMAN|.	N|T	229;211;155;240;211;229;130;229|47	ENSP00000450337:K229N;ENSP00000450298:K211N;ENSP00000385093:K155N;ENSP00000327416:K211N;ENSP00000449338:K229N;ENSP00000388373:K130N;ENSP00000447868:K229N|ENSP00000446555:K47T	ENSP00000327416:K211N|ENSP00000446555:K47T	K|K	-|-	3|2	2|0	PPFIA2|PPFIA2	80323772|80323772	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.211000|2.211000	0.42825|0.42825	2.029000|2.029000	0.59856|0.59856	0.455000|0.455000	0.32223|0.32223	AAA|AAA	0	NULL		0.383	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	protein_coding	OTTHUMT00000408030.1	49	258	2	0.00	1	0	T		0	0		81799641	-1	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	54	151	18.18	16.57	12	30	SNP	1	G	G	81799641	T	G	81799641	3	3	76	1	0	0	0	0	1	0	0	0	12310	1838	64	5	3186	5	PPFIA2	12	81799641	Missense_Mutation	SNP	T	TCGA-XU-A930-01A-11D-A423-09	5375134	81799641	52052254	15	937											
NAA16	79612	genome.wustl.edu	37	chr13	41932577	41932577	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtactccaactctaataGaattattctatatgaaagca	16	13	4	8	0	2	2	0	1	2	1	3	2	3	2	1	0	3	2	1	0	10	8			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr13:41932577G>T	ENST00000379406.3	+	11	1549	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	NAA16_ENST00000379367.3_Nonsense_Mutation_p.E409*|NAA16_ENST00000403412.3_Nonsense_Mutation_p.E409*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	409					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AACTCTAATAGAATTATTCTA	0.323																																							0											0													59	61	60					13																	41932577		2203	4300	6503	SO:0001587	stop_gained	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1225G>T	13.37:g.41932577G>T	ENSP00000368716:p.Glu409*		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Nonsense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E409*	ENST00000379406.3	37	c.1225	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.447396	0.96205	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	.	.	.	4.82	4.82	0.62117	.	0.162599	0.41605	D	0.000853	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.4349	17.8716	0.88813	0.0:0.0:1.0:0.0	.	.	.	.	X	409	.	ENSP00000368674:E409X	E	+	1	0	NAA16	40830577	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	9.171000	0.94802	2.205000	0.71048	0.484000	0.47621	GAA	0	smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom		0.323	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	protein_coding	OTTHUMT00000044672.2	50	240	0	0.41	0	1	G	NM_018527	0	0		41932577	1	no_errors	ENST00000379406	ensembl	human	known	74_37	nonsense	62	147	18.42	21.39	14	40	SNP	1	T	T	41932577	G	T	41932577	4	4	76	1	0	0	0	0	0	1	0	0	10119	943	33	5	1267	5	NAA16	13	41932577	Nonsense_Mutation	SNP	G	TCGA-XU-A930-01A-11D-A423-09		41932577	73237301	16	938											
TGM5	9333	genome.wustl.edu	37	chr15	43525533	43525533	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttggtgttggggtttgagGactccaaggctgcaacagag	8	10	16	7	0	0	2	0	1	0	1	1	3	1	3	1	5	2	5	1	5	2	3			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr15:43525533G>T	ENST00000220420.5	-	13	2026	c.2019C>A	c.(2017-2019)gtC>gtA	p.V673V	TGM5_ENST00000349114.4_Silent_p.V591V	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	673					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)	GGGGTTTGAGGACTCCAAGGC	0.493																																							0											0													137	116	123					15																	43525533		2203	4299	6502	SO:0001819	synonymous_variant	0			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.2019C>A	15.37:g.43525533G>T			O43549|Q0VF40|Q9UEZ4	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V673	ENST00000220420.5	37	c.2019	CCDS32212.1	15																																																																																			0	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.493	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	protein_coding	OTTHUMT00000432257.1	36	295	0	0.34	0	1	G	NM_004245	0	0		43525533	-1	no_errors	ENST00000220420	ensembl	human	known	74_37	silent	52	179	16.13	16.74	10	36	SNP	1	T	T	43525533	G	T	43525533	2	4	76	1	0	0	0	0	0	0	0	1	15830	1161	41	5		5	TGM5	15	43525533	Silent	SNP	G	TCGA-XU-A930-01A-11D-A423-09		43525533	59005859	17	939											
SIN3A	25942	genome.wustl.edu	37	chr15	75692406	75692406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcgttcatcttcacaacgaTaaatatgttcttcatattga	13	15	5	8	2	5	1	3	1	2	0	5	2	5	1	0	0	2	2	0	0	5	8			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr15:75692406T>C	ENST00000394947.3	-	12	2143	c.1829A>G	c.(1828-1830)tAt>tGt	p.Y610C	SIN3A_ENST00000360439.4_Missense_Mutation_p.Y610C|SIN3A_ENST00000394949.4_Missense_Mutation_p.Y610C	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						TTCACAACGATAAATATGTTC	0.428																																							0											0													149	141	144					15																	75692406		2197	4294	6491	SO:0001583	missense	0			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.1829A>G	15.37:g.75692406T>C	ENSP00000378402:p.Tyr610Cys			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.Y610C	ENST00000394947.3	37	c.1829	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	T	26.9	4.786134	0.90282	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47869	0.83;0.83;0.83	6.08	6.08	0.98989	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78056	-0.2353	10	0.72032	D	0.01	-16.1041	15.8323	0.78764	0.0:0.0:0.0:1.0	.	610	Q96ST3	SIN3A_HUMAN	C	610	ENSP00000378402:Y610C;ENSP00000378403:Y610C;ENSP00000353622:Y610C	ENSP00000353622:Y610C	Y	-	2	0	SIN3A	73479459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.039000	0.88947	2.333000	0.79357	0.482000	0.46254	TAT	0	pfam_HDAC_interact,smart_HDAC_interact		0.428	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	protein_coding	OTTHUMT00000286469.1	52	293	0	0.00	0	0	T	NM_015477	0	0		75692406	-1	no_errors	ENST00000360439	ensembl	human	known	74_37	missense	64	178	8.57	13.59	6	28	SNP	1	C	C	75692406	T	C	75692406	3	2	76	1	0	0	0	0	1	0	0	0	14325	1406	49	3	2032	3	SIN3A	15	75692406	Missense_Mutation	SNP	T	TCGA-XU-A930-01A-11D-A423-09	32166873	75692406	26838986	18	940											
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84639319	84639319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggtcggcgcatccccctCagtgagatgatgtgcaggga	10	7	14	10	2	1	2	1	2	0	1	3	4	2	3	2	3	1	2	2	3	1	0			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr15:84639319C>T	ENST00000286744.5	+	20	2798	c.2574C>T	c.(2572-2574)ctC>ctT	p.L858L	ADAMTSL3_ENST00000567716.1_3'UTR|ADAMTSL3_ENST00000567476.1_Silent_p.L858L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	858	TSP type-1 7. {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)			GCATCCCCCTCAGTGAGATGA	0.527																																							0											0													184	161	169					15																	84639319		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2574C>T	15.37:g.84639319C>T			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.L858	ENST00000286744.5	37	c.2574	CCDS10326.1	15																																																																																			0	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.527	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	protein_coding	OTTHUMT00000304007.2	36	159	0	0.00	0	0	C	NM_207517	0	0		84639319	1	no_errors	ENST00000286744	ensembl	human	known	74_37	silent	41	81	22.64	20.59	12	21	SNP	0.001	T	T	84639319	C	T	84639319	2	4	76	1	0	0	0	0	0	0	0	1	276	813	29	3		3	ADAMTSL3	15	84639319	Silent	SNP	C	TCGA-XU-A930-01A-11D-A423-09	8946913	84639319	17892073	19	941											
GABARAP	11337	genome.wustl.edu	37	chr17	7145585	7145585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggtccgggtatttctttCggatcttctcgccctcagag	4	13	10	14	4	4	1	1	0	3	1	7	2	5	2	3	3	0	1	3	3	1	4			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr17:7145585C>T	ENST00000302386.5	-	1	504	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	CTD-2545G14.7_ENST00000570760.2_Intron|GABARAP_ENST00000571129.1_5'Flank|GABARAP_ENST00000571253.1_5'Flank|PHF23_ENST00000571362.1_5'Flank|GABARAP_ENST00000573928.1_Missense_Mutation_p.R22Q|PHF23_ENST00000576955.1_5'Flank|PHF23_ENST00000320316.3_5'Flank|GABARAP_ENST00000577035.1_5'Flank	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	22	Interaction with beta-tubulin.				autophagy (GO:0006914)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|microtubule cytoskeleton organization (GO:0000226)|protein targeting (GO:0006605)|synaptic transmission (GO:0007268)	actin cytoskeleton (GO:0015629)|autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			breast(1)|lung(2)	3						GTATTTCTTTCGGATCTTCTC	0.642																																							0											0													47	51	50					17																	7145585		2203	4299	6502	SO:0001583	missense	0			AF161586	CCDS11092.1	17p13.1	2014-02-12			ENSG00000170296	ENSG00000170296			4067	protein-coding gene	gene with protein product		605125				9892355	Standard	NM_007278		Approved	MM46, ATG8A	uc002gfb.3	O95166	OTTHUMG00000102156	ENST00000302386.5:c.65G>A	17.37:g.7145585C>T	ENSP00000306866:p.Arg22Gln			Missense_Mutation	SNP	pfam_Atg8_fam,pfam_Atg12	p.R22Q	ENST00000302386.5	37	c.65	CCDS11092.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.240149	0.97403	.	.	ENSG00000170296	ENST00000302386	T	0.50001	0.76	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.76905	0.4053	H	0.95260	3.645	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	D	0.84310	0.0510	10	0.72032	D	0.01	-1.7041	16.5908	0.84764	0.0:1.0:0.0:0.0	.	22	O95166	GBRAP_HUMAN	Q	22	ENSP00000306866:R22Q	ENSP00000306866:R22Q	R	-	2	0	GABARAP	7086309	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.963000	0.76055	2.497000	0.84241	0.650000	0.86243	CGA	0	pfam_Atg8_fam		0.642	GABARAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABARAP	protein_coding	OTTHUMT00000220000.2	91	140	0	0.00	0	0	C		0	0		7145585	-1	no_errors	ENST00000302386	ensembl	human	known	74_37	missense	79	78	24.04	13.33	25	12	SNP	1	T	T	7145585	C	T	7145585	3	4	76	1	0	0	0	0	1	0	0	0	6152	884	31	2	304	2	GABARAP	17	7145585	Missense_Mutation	SNP	C	TCGA-XU-A930-01A-11D-A423-09		7145585	74049625	20	942											
GAS2L2	246176	genome.wustl.edu	37	chr17	34071991	34071991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggctctttctcctcctttCcttcctcctcctcctcacct	1	17	2	21	0	3	0	1	0	2	0	10	0	9	0	8	1	0	1	8	1	0	3			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr17:34071991C>T	ENST00000254466.6	-	6	2552	c.2525G>A	c.(2524-2526)gGa>gAa	p.G842E	GAS2L2_ENST00000587565.1_Missense_Mutation_p.G826E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	842					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctcctttccttcctcctc	0.612																																							0											0													67	60	63					17																	34071991		2203	4300	6503	SO:0001583	missense	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2525G>A	17.37:g.34071991C>T	ENSP00000254466:p.Gly842Glu		Q8NHY4	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.G842E	ENST00000254466.6	37	c.2525	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.358682	0.01245	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	T	0.17691	2.26	3.91	-0.812	0.10853	.	1.133310	0.06831	N	0.793968	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39840	-0.9594	10	0.09338	T	0.73	-1.123	4.0299	0.09705	0.1783:0.4151:0.0:0.4065	.	842	Q8NHY3	GA2L2_HUMAN	E	842;256	ENSP00000254466:G842E	ENSP00000254466:G842E	G	-	2	0	GAS2L2	31096104	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.332000	0.02670	-0.193000	0.10415	-0.367000	0.07326	GGA	0	NULL		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	protein_coding	OTTHUMT00000256497.1	56	82	0	0.00	0	0	C	NM_139285	0	0		34071991	-1	no_errors	ENST00000254466	ensembl	human	known	74_37	missense	46	41	11.54	16.33	6	8	SNP	0	T	T	34071991	C	T	34071991	3	4	76	1	0	0	0	0	1	0	0	0	6247	855	30	3	121	3	GAS2L2	17	34071991	Missense_Mutation	SNP	C	TCGA-XU-A930-01A-11D-A423-09	26926406	34071991	47123219	21	943											
APCDD1	147495	genome.wustl.edu	37	chr18	10471541	10471541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccagctgtgaagtaaggtCaggcccagagttcatcacaa	12	7	11	11	0	3	2	3	1	0	1	3	2	3	2	2	2	1	3	2	2	3	2			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr18:10471541C>T	ENST00000355285.5	+	3	611	c.257C>T	c.(256-258)tCa>tTa	p.S86L	APCDD1_ENST00000578882.1_Missense_Mutation_p.S86L	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)		GAAGTAAGGTCAGGCCCAGAG	0.423																																							0											0													82	79	80					18																	10471541		2203	4300	6503	SO:0001583	missense	0			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.257C>T	18.37:g.10471541C>T	ENSP00000347433:p.Ser86Leu			Missense_Mutation	SNP	NULL	p.S86L	ENST00000355285.5	37	c.257	CCDS11849.1	18	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772291	0.49680	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.18657	2.2	5.3	5.3	0.74995	.	0.112791	0.64402	D	0.000007	T	0.27798	0.0684	L	0.54323	1.7	0.54753	D	0.999985	B	0.25206	0.12	B	0.29077	0.098	T	0.06844	-1.0804	10	0.87932	D	0	-12.9859	18.945	0.92618	0.0:1.0:0.0:0.0	.	86	Q8J025	APCD1_HUMAN	L	86;137	ENSP00000347433:S86L	ENSP00000347433:S86L	S	+	2	0	APCDD1	10461541	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	7.436000	0.80404	2.477000	0.83638	0.655000	0.94253	TCA	0	NULL		0.423	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	protein_coding	OTTHUMT00000254529.2	67	333	0	0.30	0	1	C	NM_153000	0	0		10471541	1	no_errors	ENST00000355285	ensembl	human	known	74_37	missense	76	167	16.48	19.71	15	41	SNP	1	T	T	10471541	C	T	10471541	3	4	76	1	0	0	0	0	1	0	0	0	765	838	29	3	267	3	APCDD1	18	10471541	Missense_Mutation	SNP	C	TCGA-XU-A930-01A-11D-A423-09		10471541	67605707	22	944											
CABLES2	81928	genome.wustl.edu	37	chr20	60966373	60966373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccagcagcacgcaggCgccagcgcacagcttgcggt	8	3	15	15	4	0	0	0	0	0	0	0	0	0	0	2	3	6	6	2	3	0	1			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chr20:60966373C>T	ENST00000279101.5	-	9	1236	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	410					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGCACGCAGGCGCCAGCGCAC	0.642																																							0											0													73	74	74					20																	60966373		2203	4300	6503	SO:0001583	missense	0			BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 150"	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1228G>A	20.37:g.60966373C>T	ENSP00000279101:p.Ala410Thr		Q5JWL0|Q9BYK0	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables	p.A410T	ENST00000279101.5	37	c.1228	CCDS33503.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.286133	0.95517	.	.	ENSG00000149679	ENST00000370560;ENST00000279101	T	0.14266	2.52	5.56	4.61	0.57282	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	L	0.60904	1.88	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.04767	-1.0928	10	0.54805	T	0.06	-29.5547	15.8059	0.78506	0.1374:0.8626:0.0:0.0	.	410	Q9BTV7	CABL2_HUMAN	T	198;410	ENSP00000279101:A410T	ENSP00000279101:A410T	A	-	1	0	CABLES2	60399768	1.000000	0.71417	0.970000	0.41538	0.930000	0.56654	7.639000	0.83342	1.339000	0.45563	0.561000	0.74099	GCC	0	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables		0.642	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABLES2	protein_coding	OTTHUMT00000080027.2	45	41	0	0.00	0	0	C	XM_037265	0	0		60966373	-1	no_errors	ENST00000279101	ensembl	human	known	74_37	missense	52	10	7.14	0.00	4	0	SNP	1	T	T	60966373	C	T	60966373	3	4	76	1	0	0	0	0	1	0	0	0	2530	768	27	1	216	1	CABLES2	20	60966373	Missense_Mutation	SNP	C	TCGA-XU-A930-01A-11D-A423-09		60966373	2059147	23	945											
SRPX2	27286	genome.wustl.edu	37	chrX	99925838	99925838	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcgctcctacttcaacAtggtgttgattgacaagcag	10	12	8	11	1	2	2	2	2	0	0	4	2	3	2	1	1	3	3	1	1	3	4			TCGA-XU-A930-01A-11D-A423-09	TCGA-XU-A930-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7d43a967-5fed-462b-a2fc-2b1df4a3c112	67eb82f3-eca1-46f5-99a6-8e80cd397b5a	g.chrX:99925838A>C	ENST00000373004.3	+	11	1680	c.1252A>C	c.(1252-1254)Atg>Ctg	p.M418L	RP11-524D16__A.3_ENST00000568809.1_RNA	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	418					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CTACTTCAACATGGTGTTGAT	0.517											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													166	129	142					X																	99925838		2203	4300	6503	SO:0001583	missense	0			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1252A>C	X.37:g.99925838A>C	ENSP00000362095:p.Met418Leu	1347	B3KQT3|Q8WW85	Missense_Mutation	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.M418L	ENST00000373004.3	37	c.1252	CCDS14471.1	X	.	.	.	.	.	.	.	.	.	.	A	16.12	3.034369	0.54896	.	.	ENSG00000102359	ENST00000373004	T	0.40225	1.04	5.09	5.09	0.68999	.	0.037222	0.85682	D	0.000000	T	0.33059	0.0850	L	0.42529	1.33	0.49798	D	0.999821	B	0.18166	0.026	B	0.21917	0.037	T	0.12941	-1.0528	9	.	.	.	-15.3838	8.8108	0.34965	0.9039:0.0:0.0961:0.0	.	418	O60687	SRPX2_HUMAN	L	418	ENSP00000362095:M418L	.	M	+	1	0	SRPX2	99812494	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.657000	0.54474	1.885000	0.54596	0.425000	0.28330	ATG	0	superfamily_Thioredoxin-like_fold		0.517	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	protein_coding	OTTHUMT00000057486.1	29	137	0	0.00	0	0	A	NM_014467	0	0		99925838	1	no_errors	ENST00000373004	ensembl	human	known	74_37	missense	30	81	31.82	27.68	14	31	SNP	1	C	C	99925838	A	C	99925838	3	2	76	1	0	0	0	0	1	0	0	0	15164	217	8	5	1290	5	SRPX2	23	99925838	Missense_Mutation	SNP	A	TCGA-XU-A930-01A-11D-A423-09		99925838	55344722	24	946											
AFF3	3899	genome.wustl.edu	37	chr2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-																															ctggaggagctgctgctgccGctgctgctgctgctgctgct																										TCGA-XU-A931-01A-11D-A423-09	TCGA-XU-A931-10A-01D-A426-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a89eec5a-6aaa-4369-aace-5e5085506262	2bfd1470-1d6b-4f5c-9ff0-78fc8697605c	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000317233.4_In_Frame_Del_p.S419del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				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						tgctgctgccgctgctgctgctg	0.685																																							0											0									,	365,3157		33,299,1429					,	-5.4	0.9			10	878,6286		79,720,2783	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	112,1019,4212	A1A1,A1R,RR		12.2557,10.3634,11.632	,	,		1243,9443				SO:0001651	inframe_deletion	0			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.1255_1257delAGC	2.37:g.100218020_100218022delGCT	ENSP00000387207:p.Ser419del		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	pfam_TF_AF4/FMR2	p.S444in_frame_del	ENST00000409236.2	37	c.1332_1330	CCDS42723.1	2																																																																																			0	pfam_TF_AF4/FMR2		0.685	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	protein_coding	OTTHUMT00000328982.3	57	17	0	0.00	0	0	GCT	NM_002285	0	0		100218013	-1	no_errors	ENST00000356421	ensembl	human	known	74_37	in_frame_del	32	6	13.51	0.00	5	0	DEL	1.000:1.000:1.000	0	-	100218013	GCT	-	100218011	7	5	77	1	0	1	0	1	0	0	0	0	358	1078	38	0	2471	0	AFF3	2	100218011	In_Frame_Del	DEL	GCT	TCGA-XU-A931-01A-11D-A423-09		100218011	142981362	1	947											
MREG	55686	genome.wustl.edu	37	chr2	216877966	216877966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgcacccacctgacgagggGctccttctcaggcagggcgc	6	5	14	16	3	1	1	1	1	1	0	3	2	2	1	3	4	0	3	3	4	0	1	rs568336631		TCGA-XU-A931-01A-11D-A423-09	TCGA-XU-A931-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a89eec5a-6aaa-4369-aace-5e5085506262	2bfd1470-1d6b-4f5c-9ff0-78fc8697605c	g.chr2:216877966G>A	ENST00000263268.6	-	1	380	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	29						plasma membrane (GO:0005886)				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		CTGACGAGGGGCTCCTTCTCA	0.697													G|||	1	0.000199681	0	0	5008	,	,		10739	0		0	False		,,,				2504	0.001						0											0													6	12	10					2																	216877966		1612	3249	4861	SO:0001583	missense	0			AK000978	CCDS46513.1	2q35	2013-09-27			ENSG00000118242	ENSG00000118242			25478	protein-coding gene	gene with protein product		609207				19240024, 22275436	Standard	NM_018000		Approved	FLJ10116, DSU, WDT2	uc002vfo.3	Q8N565	OTTHUMG00000154828	ENST00000263268.6:c.85C>T	2.37:g.216877966G>A	ENSP00000263268:p.Pro29Ser		Q53R89|Q53TC1|Q5XKB6|Q9NWC9|Q9P1S1	Missense_Mutation	SNP	NULL	p.P29S	ENST00000263268.6	37	c.85	CCDS46513.1	2	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795347	0.70452	.	.	ENSG00000118242	ENST00000236976;ENST00000263268	T	0.63913	-0.07	4.03	3.14	0.36123	.	0.124685	0.56097	D	0.000039	T	0.56396	0.1982	L	0.59436	1.845	0.80722	D	1	B	0.33612	0.419	B	0.35353	0.201	T	0.58250	-0.7669	10	0.66056	D	0.02	-12.2786	8.8449	0.35164	0.0:0.0:0.7759:0.2241	.	29	Q8N565	MREG_HUMAN	S	29	ENSP00000263268:P29S	ENSP00000236976:P29S	P	-	1	0	MREG	216586211	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.675000	0.46875	0.885000	0.36088	0.462000	0.41574	CCC	0	NULL		0.697	MREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MREG	protein_coding	OTTHUMT00000337297.1	22	30	0	0.00	0	0	G	NM_018000	rs568336631	G->A		216877966	-1	no_errors	ENST00000263268	ensembl	human	known	74_37	missense	11	24	26.67	11.11	4	3	SNP	1	A	A	216877966	G	A	216877966	3	1	77	1	0	0	0	0	1	0	0	0	9760	1203	42	3	579	3	MREG	2	216877966	Missense_Mutation	SNP	G	TCGA-XU-A931-01A-11D-A423-09	116659955	216877966	26321407	2	948											
DCHS2	54798	genome.wustl.edu	37	chr4	155237053	155237053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctgggatgaagaaagtgCtggtgtgccatcatccagtg	10	10	14	7	0	2	2	1	1	1	1	3	3	3	3	2	2	2	1	2	2	2	0			TCGA-XU-A931-01A-11D-A423-09	TCGA-XU-A931-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a89eec5a-6aaa-4369-aace-5e5085506262	2bfd1470-1d6b-4f5c-9ff0-78fc8697605c	g.chr4:155237053C>T	ENST00000357232.4	-	15	3741	c.3742G>A	c.(3742-3744)Gca>Aca	p.A1248T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1248	Cadherin 10. {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)		GAAGAAAGTGCTGGTGTGCCA	0.403																																							0											0													123	116	118					4																	155237053		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3742G>A	4.37:g.155237053C>T	ENSP00000349768:p.Ala1248Thr		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.A1248T	ENST00000357232.4	37	c.3742	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	8.177	0.793013	0.16327	.	.	ENSG00000197410	ENST00000357232	T	0.52295	0.67	5.37	2.61	0.31194	Cadherin (4);Cadherin-like (1);	0.358888	0.26623	N	0.023355	T	0.33323	0.0859	L	0.39147	1.195	0.36227	D	0.852356	B	0.24426	0.103	B	0.23574	0.047	T	0.19095	-1.0316	10	0.32370	T	0.25	.	5.3135	0.15843	0.1403:0.629:0.0:0.2307	.	1248	Q6V1P9	PCD23_HUMAN	T	1248	ENSP00000349768:A1248T	ENSP00000349768:A1248T	A	-	1	0	DCHS2	155456503	0.004000	0.15560	0.008000	0.14137	0.792000	0.44763	0.128000	0.15810	0.302000	0.22762	0.460000	0.39030	GCA	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	69	198	0	0.00	0	0	C	NM_001142552	0	0		155237053	-1	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	48	80	22.58	33.33	14	41	SNP	0.383	T	T	155237053	C	T	155237053	3	4	77	1	0	0	0	0	1	0	0	0	4288	797	28	3	5052	3	DCHS2	4	155237053	Missense_Mutation	SNP	C	TCGA-XU-A931-01A-11D-A423-09		155237053	35917223	3	949											
KIAA0947	23379	genome.wustl.edu	37	chr5	5460800	5460800	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcacagcaacactgagagaAtcttctgccacacactcctt	12	10	5	14	0	3	2	1	1	2	1	4	3	4	2	2	0	3	1	2	0	2	3			TCGA-XU-A931-01A-11D-A423-09	TCGA-XU-A931-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a89eec5a-6aaa-4369-aace-5e5085506262	2bfd1470-1d6b-4f5c-9ff0-78fc8697605c	g.chr5:5460800A>C	ENST00000296564.7	+	13	1575	c.1353A>C	c.(1351-1353)gaA>gaC	p.E451D		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		451					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						CACTGAGAGAATCTTCTGCCA	0.408																																							0											0													76	73	74					5																	5460800		1967	4140	6107	SO:0001583	missense	0																														ENST00000296564.7:c.1353A>C	5.37:g.5460800A>C	ENSP00000296564:p.Glu451Asp		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E451D	ENST00000296564.7	37	c.1353	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781680	0.49891	.	.	ENSG00000164151	ENST00000296564	T	0.47528	0.84	4.14	-6.3	0.02007	.	1.544540	0.04193	N	0.328695	T	0.31071	0.0785	L	0.27053	0.805	0.09310	N	1	P	0.50819	0.939	P	0.44673	0.457	T	0.30238	-0.9985	10	0.14656	T	0.56	-3.8027	6.3356	0.21294	0.3451:0.0:0.5063:0.1486	.	451	Q9Y2F5	K0947_HUMAN	D	451	ENSP00000296564:E451D	ENSP00000296564:E451D	E	+	3	2	KIAA0947	5513800	0.000000	0.05858	0.000000	0.03702	0.804000	0.45430	-2.131000	0.01311	-1.512000	0.01791	0.254000	0.18369	GAA	0	NULL		0.408	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	protein_coding	OTTHUMT00000365575.1	23	197	0	0.00	0	0	A		0	0		5460800	1	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	19	145	36.67	39.33	11	94	SNP	0	C	C	5460800	A	C	5460800	3	2	77	1	0	0	0	0	1	0	0	0	8202	98	4	5	1403	5	KIAA0947	5	5460800	Missense_Mutation	SNP	A	TCGA-XU-A931-01A-11D-A423-09		5460800	175454460	4	950											
ODZ2	57451	genome.wustl.edu	37	chr5	167379631	167379631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagtcgactctgaggcccCctctcccaccccctcacaac	7	6	6	22	1	3	1	1	1	2	0	5	2	3	1	6	1	1	0	6	1	1	0			TCGA-XU-A931-01A-11D-A423-09	TCGA-XU-A931-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a89eec5a-6aaa-4369-aace-5e5085506262	2bfd1470-1d6b-4f5c-9ff0-78fc8697605c	g.chr5:167379631C>G	ENST00000518659.1	+	4	790	c.751C>G	c.(751-753)Cct>Gct	p.P251A	TENM2_ENST00000545108.1_Missense_Mutation_p.P251A|TENM2_ENST00000519204.1_Missense_Mutation_p.P130A|TENM2_ENST00000403607.2_Missense_Mutation_p.P84A|TENM2_ENST00000520394.1_Missense_Mutation_p.P60A|TENM2_ENST00000520393.1_3'UTR|CTC-353G13.1_ENST00000523050.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	251	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)										TCTGAGGCCCCCTCTCCCACC	0.567																																							0											0													82	93	90					5																	167379631		2141	4250	6391	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.751C>G	5.37:g.167379631C>G	ENSP00000429430:p.Pro251Ala		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.P251A	ENST00000518659.1	37	c.751		5	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689462	0.48097	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.33	5.33	0.75918	Teneurin intracellular, N-terminal (2);	0.142496	0.47093	D	0.000255	T	0.60753	0.2293	L	0.53249	1.67	0.58432	D	0.999998	D;D;D	0.76494	0.997;0.996;0.999	D;D;D	0.80764	0.989;0.981;0.994	T	0.54827	-0.8235	10	0.02654	T	1	.	19.0113	0.92874	0.0:1.0:0.0:0.0	.	251;60;130	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	A	251;251;130;60;84	ENSP00000429430:P251A;ENSP00000438635:P251A;ENSP00000428964:P130A;ENSP00000427874:P60A;ENSP00000384905:P84A	ENSP00000384905:P84A	P	+	1	0	ODZ2	167312209	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	5.717000	0.68446	2.497000	0.84241	0.563000	0.77884	CCT	0	pfam_Ten_N		0.567	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	22	162	0	0.00	0	0	C	NM_001122679	0	0		167379631	1	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	27	102	42.55	35.85	20	57	SNP	1	G	G	167379631	C	G	167379631	3	3	77	1	0	0	0	0	1	0	0	0	10835	623	22	5	765	5	ODZ2	5	167379631	Missense_Mutation	SNP	C	TCGA-XU-A931-01A-11D-A423-09	161918831	167379631	13535629	5	951											
RALA	5898	genome.wustl.edu	37	chr7	39736352	39736352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttggtaacaaatcagattTagaagataaaagacaggttt	17	11	10	3	0	1	4	1	0	0	4	1	4	1	4	0	3	1	3	0	3	6	6			TCGA-XU-A931-01A-11D-A423-09	TCGA-XU-A931-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a89eec5a-6aaa-4369-aace-5e5085506262	2bfd1470-1d6b-4f5c-9ff0-78fc8697605c	g.chr7:39736352T>C	ENST00000005257.2	+	4	772	c.392T>C	c.(391-393)tTa>tCa	p.L131S	RALA_ENST00000468201.1_3'UTR	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	131					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						AAATCAGATTTAGAAGATAAA	0.343																																							0											0													72	71	72					7																	39736352		2203	4300	6503	SO:0001583	missense	0				CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"RAS-like protein A", "Ras-related protein Ral-A", "Ras family small GTP binding protein RALA", "ras related GTP binding protein A"	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.392T>C	7.37:g.39736352T>C	ENSP00000005257:p.Leu131Ser		A4D1W3	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.L131S	ENST00000005257.2	37	c.392	CCDS5460.1	7	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388638	0.82902	.	.	ENSG00000006451	ENST00000005257	D	0.84800	-1.9	4.84	4.84	0.62591	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93566	0.7946	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94978	0.8123	10	0.87932	D	0	.	14.739	0.69440	0.0:0.0:0.0:1.0	.	131	P11233	RALA_HUMAN	S	131	ENSP00000005257:L131S	ENSP00000005257:L131S	L	+	2	0	RALA	39702877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	1.942000	0.56320	0.460000	0.39030	TTA	0	pfam_Small_GTPase,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		0.343	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALA	protein_coding	OTTHUMT00000250696.2	35	130	0	0.00	0	0	T	NM_005402	0	0		39736352	1	no_errors	ENST00000005257	ensembl	human	known	74_37	missense	58	165	13.43	5.71	9	10	SNP	1	C	C	39736352	T	C	39736352	3	2	77	1	0	0	0	0	1	0	0	0	13010	1764	61	3	402	3	RALA	7	39736352	Missense_Mutation	SNP	T	TCGA-XU-A931-01A-11D-A423-09		39736352	119402311	6	952											
OPALIN	93377	genome.wustl.edu	37	chr10	98109555	98109555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagcaatggtatgcccGccgctaatccaagagagggc	11	5	11	14	2	0	1	0	0	0	1	1	2	1	1	5	2	2	3	5	2	4	2	rs368645607	byFrequency	TCGA-XU-A931-01A-11D-A423-09	TCGA-XU-A931-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a89eec5a-6aaa-4369-aace-5e5085506262	2bfd1470-1d6b-4f5c-9ff0-78fc8697605c	g.chr10:98109555G>A	ENST00000371172.3	-	4	506	c.101C>T	c.(100-102)gCg>gTg	p.A34V	OPALIN_ENST00000419479.1_Missense_Mutation_p.A24V|OPALIN_ENST00000536387.1_Missense_Mutation_p.A24V|OPALIN_ENST00000393870.2_Missense_Mutation_p.A23V|OPALIN_ENST00000393871.1_Missense_Mutation_p.A11V	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	34						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A24E(1)|p.A34E(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TGGTATGCCCGCCGCTAATCC	0.478													G|||	4	0.000798722	0	0	5008	,	,		17584	0		0	False		,,,				2504	0.0041						0											2	Substitution - Missense(2)	lung(2)						G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	28	31	30		101,71,32	3.5	0.1	10		30	1,8599		0,1,4299	no	missense,missense,missense	OPALIN	NM_033207.3,NM_001040103.1,NM_001040102.1	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	34/142,24/132,11/119	98109555	1,13005	2203	4300	6503	SO:0001583	missense	0			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.101C>T	10.37:g.98109555G>A	ENSP00000360214:p.Ala34Val		A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP	NULL	p.A34V	ENST00000371172.3	37	c.101	CCDS7448.1	10	.	.	.	.	.	.	.	.	.	.	G	8.567	0.879159	0.17395	0.0	1.16E-4	ENSG00000197430	ENST00000371172;ENST00000393871;ENST00000419479;ENST00000393870;ENST00000536387	.	.	.	5.35	3.46	0.39613	.	0.230517	0.30930	N	0.008582	T	0.20129	0.0484	N	0.24115	0.695	0.09310	N	0.999998	B;B;B	0.33826	0.427;0.427;0.427	B;B;B	0.26202	0.067;0.067;0.067	T	0.11991	-1.0565	9	0.46703	T	0.11	-16.6883	7.6667	0.28434	0.0866:0.1634:0.75:0.0	.	11;34;24	A8MYG4;Q96PE5;B4DK96	.;OPALI_HUMAN;.	V	34;11;24;23;24	.	ENSP00000360214:A34V	A	-	2	0	OPALIN	98099545	0.604000	0.26932	0.057000	0.19452	0.001000	0.01503	1.779000	0.38624	0.916000	0.36871	-0.122000	0.15005	GCG	0	NULL		0.478	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPALIN	protein_coding	OTTHUMT00000049606.1	32	163	0	0.00	0	0	G	NM_033207	rs368645607	G->A		98109555	-1	no_errors	ENST00000371172	ensembl	human	known	74_37	missense	25	75	16.67	25.00	5	25	SNP	0.237	A	A	98109555	G	A	98109555	3	1	77	1	0	0	0	0	1	0	0	0	10873	1087	38	1	336	1	OPALIN	10	98109555	Missense_Mutation	SNP	G	TCGA-XU-A931-01A-11D-A423-09		98109555	37425192	7	953											
CHRM1	1128	genome.wustl.edu	37	chr11	62678157	62678157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatcagagctgcccggcggGgtgtgcgcttggcacggtag	5	8	17	11	4	2	1	2	0	0	1	2	1	2	1	1	5	3	4	1	5	1	2			TCGA-XU-A931-01A-11D-A423-09	TCGA-XU-A931-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a89eec5a-6aaa-4369-aace-5e5085506262	2bfd1470-1d6b-4f5c-9ff0-78fc8697605c	g.chr11:62678157G>A	ENST00000306960.3	-	2	957	c.416C>T	c.(415-417)cCc>cTc	p.P139L	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	139					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)	TGCCCGGCGGGGTGTGCGCTT	0.617																																							0											0													42	43	43					11																	62678157		2201	4298	6499	SO:0001583	missense	0			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.416C>T	11.37:g.62678157G>A	ENSP00000306490:p.Pro139Leu		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.P139L	ENST00000306960.3	37	c.416	CCDS8040.1	11	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180600	0.57800	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.72835	-0.69;-0.69	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.65739	0.2720	L	0.41356	1.27	0.58432	D	0.999999	B	0.30146	0.27	B	0.34346	0.18	T	0.68804	-0.5312	10	0.72032	D	0.01	-24.9129	15.321	0.74120	0.0:0.0:1.0:0.0	.	139	P11229	ACM1_HUMAN	L	139	ENSP00000306490:P139L;ENSP00000441188:P139L	ENSP00000306490:P139L	P	-	2	0	CHRM1	62434733	1.000000	0.71417	0.854000	0.33618	0.996000	0.88848	9.648000	0.98483	2.483000	0.83821	0.563000	0.77884	CCC	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt		0.617	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM1	protein_coding	OTTHUMT00000396178.1	20	108	0	0.00	0	0	G	NM_000738	0	0		62678157	-1	no_errors	ENST00000306960	ensembl	human	known	74_37	missense	16	47	20	41.98	4	34	SNP	0.958	A	A	62678157	G	A	62678157	3	1	77	1	0	0	0	0	1	0	0	0	3376	1232	43	3	970	3	CHRM1	11	62678157	Missense_Mutation	SNP	G	TCGA-XU-A931-01A-11D-A423-09		62678157	72328359	8	954											
TULP3	7289	genome.wustl.edu	37	chr12	3043639	3043639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcatggggaccaagtttaCagtttatgaccgtggcatct	9	12	10	10	1	2	1	1	1	1	0	2	2	2	2	3	3	1	3	3	3	3	4			TCGA-XU-A931-01A-11D-A423-09	TCGA-XU-A931-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a89eec5a-6aaa-4369-aace-5e5085506262	2bfd1470-1d6b-4f5c-9ff0-78fc8697605c	g.chr12:3043639C>T	ENST00000448120.2	+	8	887	c.836C>T	c.(835-837)aCa>aTa	p.T279I	TULP3_ENST00000397132.2_Missense_Mutation_p.T279I	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	279					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)			ACCAAGTTTACAGTTTATGAC	0.498																																							0											0													142	149	146					12																	3043639		2203	4300	6503	SO:0001583	missense	0			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.836C>T	12.37:g.3043639C>T	ENSP00000410051:p.Thr279Ile		B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.T279I	ENST00000448120.2	37	c.836	CCDS8519.1	12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043901	0.75732	.	.	ENSG00000078246	ENST00000228245;ENST00000544943;ENST00000542730;ENST00000448120;ENST00000397132	D;D;D	0.96041	-3.89;-3.89;-3.89	5.2	5.2	0.72013	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.983;0.999;0.999	D	0.98164	1.0448	10	0.87932	D	0	-28.4829	17.7272	0.88368	0.0:1.0:0.0:0.0	.	136;279;279	B7Z1E7;O75386;F8WBZ9	.;TULP3_HUMAN;.	I	279;6;136;279;279	ENSP00000442631:T6I;ENSP00000410051:T279I;ENSP00000380321:T279I	ENSP00000228245:T279I	T	+	2	0	TULP3	2913900	1.000000	0.71417	0.685000	0.30070	0.570000	0.35934	7.818000	0.86416	2.431000	0.82371	0.561000	0.74099	ACA	0	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C		0.498	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TULP3	protein_coding	OTTHUMT00000398468.1	42	199	0	0.00	0	0	C	NM_003324	0	0		3043639	1	no_errors	ENST00000448120	ensembl	human	known	74_37	missense	34	139	39.29	28.93	22	57	SNP	1	T	T	3043639	C	T	3043639	3	4	77	1	0	0	0	0	1	0	0	0	16772	478	17	3	866	3	TULP3	12	3043639	Missense_Mutation	SNP	C	TCGA-XU-A931-01A-11D-A423-09		3043639	130808256	9	955											
ZRANB1	54764	genome.wustl.edu	37	chr10	126670294	126670294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggttttacacacgctggAaagattgggaatcatggtat	12	13	11	5	1	1	1	1	0	0	1	1	3	1	3	0	4	1	3	0	4	5	5			TCGA-XU-A932-01A-11D-A423-09	TCGA-XU-A932-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5bc8aec2-abe8-423d-9f9b-55ef130ab50f	4e80d3f2-418b-40d7-9afa-07003b2656e9	g.chr10:126670294A>G	ENST00000359653.4	+	6	1815	c.1444A>G	c.(1444-1446)Aaa>Gaa	p.K482E	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	482	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CACACGCTGGAAAGATTGGGA	0.318																																							0											0													118	118	118					10																	126670294		2203	4300	6503	SO:0001583	missense	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1444A>G	10.37:g.126670294A>G	ENSP00000352676:p.Lys482Glu		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.K482E	ENST00000359653.4	37	c.1444	CCDS7642.1	10	.	.	.	.	.	.	.	.	.	.	A	26.9	4.783534	0.90282	.	.	ENSG00000019995	ENST00000359653	T	0.19105	2.17	5.57	5.57	0.84162	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.63793	0.918	T	0.30707	-0.9969	10	0.62326	D	0.03	-17.1104	15.803	0.78471	1.0:0.0:0.0:0.0	.	482	Q9UGI0	ZRAN1_HUMAN	E	482	ENSP00000352676:K482E	ENSP00000352676:K482E	K	+	1	0	ZRANB1	126660284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.020000	0.76419	2.136000	0.66102	0.529000	0.55759	AAA	0	pfam_OTU,pfscan_OTU		0.318	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	protein_coding	OTTHUMT00000050898.1	66	186	0	0.00	0	0	A	NM_017580	0	0		126670294	1	no_errors	ENST00000359653	ensembl	human	known	74_37	missense	76	162	10.59	6.32	9	11	SNP	1	G	G	126670294	A	G	126670294	3	3	78	1	0	0	0	0	1	0	0	0	18219	247	9	3	1466	3	ZRANB1	10	126670294	Missense_Mutation	SNP	A	TCGA-XU-A932-01A-11D-A423-09		126670294	8864453	1	956											
NUP160	23279	genome.wustl.edu	37	chr11	47839662	47839662	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcctggtgtaaaaagactTtgcagatacatctcctatta	12	14	7	8	0	1	2	0	0	1	2	3	2	2	2	2	1	2	2	2	1	6	5			TCGA-XU-A932-01A-11D-A423-09	TCGA-XU-A932-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5bc8aec2-abe8-423d-9f9b-55ef130ab50f	4e80d3f2-418b-40d7-9afa-07003b2656e9	g.chr11:47839662T>C	ENST00000378460.2	-	11	1423	c.1377A>G	c.(1375-1377)caA>caG	p.Q459Q	Y_RNA_ENST00000517065.1_RNA|NUP160_ENST00000528501.1_Silent_p.Q23Q|NUP160_ENST00000530326.1_Silent_p.Q345Q|NUP160_ENST00000528071.1_Silent_p.Q345Q|NUP160_ENST00000531016.1_5'Flank	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	459					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						TAAAAAGACTTTGCAGATACA	0.289																																							0											0													76	78	77					11																	47839662		2200	4298	6498	SO:0001819	synonymous_variant	0			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.1377A>G	11.37:g.47839662T>C			B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	pfam_Nucleoporin_Nup160	p.Q459	ENST00000378460.2	37	c.1377	CCDS31484.1	11																																																																																			0	pfam_Nucleoporin_Nup160		0.289	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	protein_coding	OTTHUMT00000390239.2	62	333	0	0.00	0	0	T	NM_015231	0	0		47839662	-1	no_errors	ENST00000378460	ensembl	human	known	74_37	silent	96	298	9.43	7.45	10	24	SNP	0.841	C	C	47839662	T	C	47839662	2	2	78	1	0	0	0	0	0	0	0	1	10757	1838	64	3		3	NUP160	11	47839662	Silent	SNP	T	TCGA-XU-A932-01A-11D-A423-09		47839662	87166854	2	957											
GJA3	2700	genome.wustl.edu	37	chr13	20716656	20716657	+	Frame_Shift_Ins	INS	-	-	G																															acggcgggcggccgggagctINSggggggcaggggcgggggat																								rs553789027		TCGA-XU-A932-01A-11D-A423-09	TCGA-XU-A932-10A-01D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5bc8aec2-abe8-423d-9f9b-55ef130ab50f	4e80d3f2-418b-40d7-9afa-07003b2656e9	g.chr13:20716656_20716657insG	ENST00000241125.3	-	2	947_948	c.771_772insC	c.(769-774)cccagcfs	p.S258fs		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	258					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GGCCGGGAGCTGGGGGGCAGGG	0.767																																							0											0																																										SO:0001589	frameshift_variant	0			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"Ion channels / Gap junction proteins (connexins)"	4277	protein-coding gene	gene with protein product	"connexin 46"	121015	"gap junction protein, alpha 3, 46kD (connexin 46)", "gap junction protein, alpha 3, 46kDa (connexin 46)"	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.772dupC	13.37:g.20716662_20716662dupG	ENSP00000241125:p.Ser258fs		Q0VAB7|Q9H537	Frame_Shift_Ins	INS	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46	p.S257fs	ENST00000241125.3	37	c.772_771	CCDS9289.1	13																																																																																			0	NULL		0.767	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA3	protein_coding	OTTHUMT00000044059.3	18	16	0	0.00	0	0	0	NM_021954	0	0		20716657	-1	no_errors	ENST00000241125	ensembl	human	known	74_37	frame_shift_ins	18	6	10	0.00	2	0	INS	0.000:0.000	G	G	20716657	-	G	20716656	7	5	78	1	0	1	1	0	0	0	0	0	6402	1580	55	0	539	0	GJA3	13	20716656	Frame_Shift_Ins	INS	-	TCGA-XU-A932-01A-11D-A423-09		20716656	94453222	3	958											
COL6A1	1291	genome.wustl.edu	37	chr21	47417640	47417640	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagccccaggacctgcCggaccccctggagacccggg	8	2	15	16	2	0	2	0	0	0	2	0	6	0	5	7	5	2	0	7	5	0	0			TCGA-XU-A932-01A-11D-A423-09	TCGA-XU-A932-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5bc8aec2-abe8-423d-9f9b-55ef130ab50f	4e80d3f2-418b-40d7-9afa-07003b2656e9	g.chr21:47417640C>T	ENST00000361866.3	+	22	1602	c.1488C>T	c.(1486-1488)gcC>gcT	p.A496A		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	496	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)		CAGGACCTGCCGGACCCCCTG	0.697																																							0											0													19	24	22					21																	47417640		2185	4290	6475	SO:0001819	synonymous_variant	0			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.1488C>T	21.37:g.47417640C>T			O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A496	ENST00000361866.3	37	c.1488	CCDS13727.1	21																																																																																			0	pfam_Collagen		0.697	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	protein_coding	OTTHUMT00000206877.1	97	79	0	0.00	0	0	C	NM_001848	0	0		47417640	1	no_errors	ENST00000361866	ensembl	human	known	74_37	silent	76	47	10.59	6.00	9	3	SNP	0.001	T	T	47417640	C	T	47417640	2	4	78	1	0	0	0	0	0	0	0	1	3699	639	23	2		2	COL6A1	21	47417640	Silent	SNP	C	TCGA-XU-A932-01A-11D-A423-09		47417640	712255	4	959											
NOTCH2NL	388677	genome.wustl.edu	37	chr1	145281625	145281625	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacagcctgtatgtgccCtgtgcaccctcgccttgtgt	4	13	11	13	1	0	1	0	1	0	0	1	1	0	1	4	0	3	2	4	0	1	2			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr1:145281625C>G	ENST00000369340.3	+	5	999	c.555C>G	c.(553-555)ccC>ccG	p.P185P	RP11-458D21.5_ENST00000468030.1_Silent_p.P185P|NOTCH2NL_ENST00000362074.6_Silent_p.P185P|NOTCH2NL_ENST00000344859.3_Silent_p.P185P			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	185	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGTATGTGCCCTGTGCACCCT	0.582																																							0											0													173	174	174					1																	145281625		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.555C>G	1.37:g.145281625C>G			Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.P185	ENST00000369340.3	37	c.555	CCDS909.1	1																																																																																			0	smart_EG-like_dom,pfscan_EG-like_dom		0.582	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000255168	protein_coding	OTTHUMT00000038546.1	124	171	0	0.00	0	0	C	NM_203458	0	0		145281625	1	no_errors	ENST00000468030	ensembl	human	known	74_37	silent	130	188	11.56	8.29	17	17	SNP	0.997	G	G	145281625	C	G	145281625	2	3	79	1	0	0	0	0	0	0	0	1	10549	668	24	5		5	NOTCH2NL	1	145281625	Silent	SNP	C	TCGA-XU-A933-01A-11D-A423-09		145281625	103968996	1	960											
RGS1	5996	genome.wustl.edu	37	chr1	192548271	192548271	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttttcttttttagatcaAtattgacttccgcactcgag	9	17	7	8	2	2	2	1	1	1	1	4	3	3	2	1	1	0	2	1	1	3	8			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr1:192548271A>G	ENST00000367459.3	+	5	515	c.449A>G	c.(448-450)aAt>aGt	p.N150S		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	150	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TTTTAGATCAATATTGACTTC	0.318																																							0											0													67	73	71					1																	192548271		2203	4300	6503	SO:0001583	missense	0			AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"Regulators of G-protein signaling"	9991	protein-coding gene	gene with protein product		600323	"regulator of G-protein signalling 1"	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.449A>G	1.37:g.192548271A>G	ENSP00000356429:p.Asn150Ser		B2RDM9|B4DZY0|Q07918|Q9H1W2	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.N150S	ENST00000367459.3	37	c.449	CCDS1375.2	1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731795	0.89390	.	.	ENSG00000090104	ENST00000367459	T	0.36520	1.25	5.68	5.68	0.88126	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60777	-0.7196	10	0.37606	T	0.19	.	15.0466	0.71833	1.0:0.0:0.0:0.0	.	150	Q08116	RGS1_HUMAN	S	150	ENSP00000356429:N150S	ENSP00000356429:N150S	N	+	2	0	RGS1	190814894	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.287000	0.95975	2.289000	0.77006	0.482000	0.46254	AAT	0	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom		0.318	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS1	protein_coding	OTTHUMT00000086391.1	81	308	0	0.00	0	0	A	NM_002922	0	0		192548271	1	no_errors	ENST00000367459	ensembl	human	known	74_37	missense	140	270	30.54	29.13	62	111	SNP	1	G	G	192548271	A	G	192548271	3	3	79	1	0	0	0	0	1	0	0	0	13292	101	4	3	467	3	RGS1	1	192548271	Missense_Mutation	SNP	A	TCGA-XU-A933-01A-11D-A423-09	47266646	192548271	56702350	2	961											
OR2W3	343171	genome.wustl.edu	37	chr1	248059455	248059455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgatccggatggcctgCgtcagcactgtggccatcga	6	8	13	14	3	1	1	1	1	0	0	3	3	2	2	4	3	2	1	4	3	0	0			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr1:248059455C>T	ENST00000360358.3	+	1	567	c.567C>T	c.(565-567)tgC>tgT	p.C189C	OR2W3_ENST00000537741.1_Silent_p.C189C	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, 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)			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)			GGATGGCCTGCGTCAGCACTG	0.607																																							0											0													137	117	123					1																	248059455		2203	4300	6503	SO:0001819	synonymous_variant	0			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.567C>T	1.37:g.248059455C>T			Q6IF06|Q8NG86	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C189	ENST00000360358.3	37	c.567	CCDS31099.1	1																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.607	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W3	protein_coding	OTTHUMT00000096861.1	34	129	0	0.00	0	0	C	NM_001001957	0	0		248059455	1	no_errors	ENST00000360358	ensembl	human	known	74_37	silent	27	103	25	36.02	9	58	SNP	0.024	T	T	248059455	C	T	248059455	2	4	79	1	0	0	0	0	0	0	0	1	11033	776	27	1		1	OR2W3	1	248059455	Silent	SNP	C	TCGA-XU-A933-01A-11D-A423-09	55511184	248059455	1191166	3	962											
ODC1	4953	genome.wustl.edu	37	chr2	10584662	10584662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacgatggctttgctatCattacatttgactgcataaa	11	15	6	9	1	2	1	2	1	0	0	2	2	2	1	0	1	3	3	0	1	4	6			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr2:10584662C>A	ENST00000234111.4	-	4	724	c.214G>T	c.(214-216)Gat>Tat	p.D72Y	ODC1_ENST00000405333.1_Missense_Mutation_p.D72Y|SNORA80B_ENST00000383906.1_RNA|ODC1_ENST00000446285.1_5'UTR	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	72					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	GCTTTGCTATCATTACATTTG	0.473																																							0											0													97	92	94					2																	10584662		2203	4300	6503	SO:0001583	missense	0				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.214G>T	2.37:g.10584662C>A	ENSP00000234111:p.Asp72Tyr		Q53TU3|Q6LDS9	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.D72Y	ENST00000234111.4	37	c.214	CCDS1672.1	2	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094406	0.56075	.	.	ENSG00000115758	ENST00000234111;ENST00000405333	T;T	0.42900	0.96;0.96	5.37	5.37	0.77165	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.044849	0.85682	D	0.000000	T	0.50871	0.1641	M	0.78637	2.42	0.58432	D	0.999998	P	0.43750	0.816	B	0.41271	0.352	T	0.59931	-0.7361	10	0.62326	D	0.03	.	19.1175	0.93348	0.0:1.0:0.0:0.0	.	72	P11926	DCOR_HUMAN	Y	72	ENSP00000234111:D72Y;ENSP00000385333:D72Y	ENSP00000234111:D72Y	D	-	1	0	ODC1	10502113	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	3.250000	0.51445	2.508000	0.84585	0.655000	0.94253	GAT	0	pfam_De-COase2_N,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase		0.473	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODC1	protein_coding	OTTHUMT00000206896.2	76	199	0	0.00	0	0	C		0	0		10584662	-1	no_errors	ENST00000234111	ensembl	human	known	74_37	missense	30	105	33.33	35.19	15	57	SNP	1	A	A	10584662	C	A	10584662	3	1	79	1	0	0	0	0	1	0	0	0	10825	826	29	5	1207	5	ODC1	2	10584662	Missense_Mutation	SNP	C	TCGA-XU-A933-01A-11D-A423-09		10584662	232614711	4	963											
APLF	200558	genome.wustl.edu	37	chr2	68753274	68753274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccagcaaggaagaaggcAattaatttcatcaggaagtt	17	8	9	7	0	2	1	2	0	0	1	2	3	2	3	1	3	2	3	1	3	7	3			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr2:68753274A>G	ENST00000303795.4	+	6	875	c.704A>G	c.(703-705)cAa>cGa	p.Q235R		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	235					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GGAAGAAGGCAATTAATTTCA	0.373																																							0											0													108	110	110					2																	68753274		2203	4300	6503	SO:0001583	missense	0			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.704A>G	2.37:g.68753274A>G	ENSP00000307004:p.Gln235Arg		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.Q235R	ENST00000303795.4	37	c.704	CCDS1888.1	2	.	.	.	.	.	.	.	.	.	.	a	0.007	-1.985923	0.00443	.	.	ENSG00000169621	ENST00000303795	T	0.18810	2.19	4.85	3.96	0.45880	.	0.764841	0.12264	N	0.484493	T	0.05273	0.0140	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	0.30357	-0.9981	10	0.02654	T	1	.	8.5827	0.33640	0.1074:0.0:0.8926:0.0	.	235;235	F8WET0;Q8IW19	.;APLF_HUMAN	R	235	ENSP00000307004:Q235R	ENSP00000307004:Q235R	Q	+	2	0	APLF	68606778	0.471000	0.25862	0.782000	0.31804	0.072000	0.16883	1.088000	0.30877	1.388000	0.46506	-0.473000	0.04963	CAA	0	NULL		0.373	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	protein_coding	OTTHUMT00000251759.1	22	247	0	0.40	0	1	A	NM_173545	0	0		68753274	1	no_errors	ENST00000303795	ensembl	human	known	74_37	missense	28	120	36.96	39.70	17	79	SNP	0.671	G	G	68753274	A	G	68753274	3	3	79	1	0	0	0	0	1	0	0	0	776	130	5	3	726	3	APLF	2	68753274	Missense_Mutation	SNP	A	TCGA-XU-A933-01A-11D-A423-09	58168612	68753274	174446099	5	964											
SCN1A	6323	genome.wustl.edu	37	chr2	166868749	166868749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcatattccaacatcGtcttaatcgtctttcgctga	9	15	6	11	3	3	1	1	1	2	0	7	1	4	1	1	0	2	2	1	0	3	4	rs140731963		TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr2:166868749G>A	ENST00000303395.4	-	19	3748	c.3749C>T	c.(3748-3750)aCg>aTg	p.T1250M	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T1239M|SCN1A_ENST00000409050.1_Missense_Mutation_p.T1222M|SCN1A_ENST00000423058.2_Missense_Mutation_p.T1250M			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1250					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.T1239M(1)		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)	TTCCAACATCGTCTTAATCGT	0.318																																							0											1	Substitution - Missense(1)	large_intestine(1)						G	MET/THR,MET/THR,MET/THR,MET/THR	0,4404		0,0,2202	78	73	75		3749,3665,3749,3716	4.4	1	2	dbSNP_134	75	3,8595	3.0+/-9.4	0,3,4296	yes	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	81,81,81,81	0,3,6498	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1250/2010,1222/1982,1250/2010,1239/1999	166868749	3,12999	2202	4299	6501	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3749C>T	2.37:g.166868749G>A	ENSP00000303540:p.Thr1250Met		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.T1250M	ENST00000303395.4	37	c.3749	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503404	0.44558	0.0	3.49E-4	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.5	4.42	0.53409	.	0.094690	0.45867	D	0.000326	D	0.95893	0.8663	M	0.76838	2.35	0.40706	D	0.982527	P;D;B	0.54601	0.601;0.967;0.013	B;B;B	0.39771	0.136;0.309;0.006	D	0.96407	0.9301	10	0.54805	T	0.06	.	15.1821	0.72968	0.0795:0.0:0.9205:0.0	.	1239;1222;1250	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	1250;1250;1239;1222	ENSP00000407030:T1250M;ENSP00000303540:T1250M;ENSP00000364554:T1239M;ENSP00000386312:T1222M	ENSP00000303540:T1250M	T	-	2	0	SCN1A	166576995	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	4.565000	0.60836	2.568000	0.86640	0.557000	0.71058	ACG	0	NULL		0.318	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	27	269	0	0.00	0	0	G	NM_006920	rs140731963	G->A		166868749	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	40	122	25.93	35.11	14	66	SNP	0.984	A	A	166868749	G	A	166868749	3	1	79	1	0	0	0	0	1	0	0	0	13914	1145	40	1	2312	1	SCN1A	2	166868749	Missense_Mutation	SNP	G	TCGA-XU-A933-01A-11D-A423-09	98115475	166868749	76330624	6	965											
TTN	7273	genome.wustl.edu	37	chr2	179560833	179560833	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggttctacctccagttcGtcataaggttcttcgaaaga	10	14	8	9	2	3	1	1	0	2	1	6	2	4	1	2	2	1	3	2	2	4	7	rs587780979		TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr2:179560833G>A	ENST00000591111.1	-	112	30239	c.30015C>T	c.(30013-30015)gaC>gaT	p.D10005D	TTN_ENST00000342992.6_Silent_p.D9078D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.D10322D|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA			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)			CCTCCAGTTCGTCATAAGGTT	0.378																																							0											0													128	108	114					2																	179560833		1772	3890	5662	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30015C>T	2.37:g.179560833G>A			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.D9078	ENST00000591111.1	37	c.27234		2																																																																																			0	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	69	306	0	0.33	0	1	G	NM_133378	rs587780979	G->A		179560833	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	46	195	20.69	39.32	12	127	SNP	0.021	A	A	179560833	G	A	179560833	2	1	79	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179560833	Silent	SNP	G	TCGA-XU-A933-01A-11D-A423-09	12692084	179560833	63638540	7	966											
HECW2	57520	genome.wustl.edu	37	chr2	197182045	197182045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccggctaacatcctggCgcactgaaggtagtgatcgc	9	8	13	11	3	0	2	0	2	0	0	2	2	1	2	2	4	2	4	2	4	4	3			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr2:197182045C>T	ENST00000260983.3	-	10	2569	c.2387G>A	c.(2386-2388)cGc>cAc	p.R796H	HECW2_ENST00000409111.1_Missense_Mutation_p.R440H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	796	Interaction with TP73.				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						AACATCCTGGCGCACTGAAGG	0.498																																							0											0													81	72	75					2																	197182045		2203	4300	6503	SO:0001583	missense	0			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.2387G>A	2.37:g.197182045C>T	ENSP00000260983:p.Arg796His		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.R796H	ENST00000260983.3	37	c.2387	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233550	0.79688	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.36157	1.27;1.31	5.84	4.96	0.65561	.	0.695056	0.15369	N	0.265959	T	0.26810	0.0656	N	0.19112	0.55	0.80722	D	1	B	0.19445	0.036	B	0.12156	0.007	T	0.03784	-1.1004	10	0.39692	T	0.17	.	15.3556	0.74425	0.0:0.9322:0.0:0.0678	.	796	Q9P2P5	HECW2_HUMAN	H	440;796	ENSP00000386775:R440H;ENSP00000260983:R796H	ENSP00000260983:R796H	R	-	2	0	HECW2	196890290	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.597000	0.67577	2.771000	0.95319	0.655000	0.94253	CGC	0	NULL		0.498	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	protein_coding	OTTHUMT00000335199.3	75	157	0	0.00	0	0	C	NM_020760	0	0		197182045	-1	no_errors	ENST00000260983	ensembl	human	known	74_37	missense	42	85	32.26	38.57	20	54	SNP	1	T	T	197182045	C	T	197182045	3	4	79	1	0	0	0	0	1	0	0	0	7043	768	27	1	2411	1	HECW2	2	197182045	Missense_Mutation	SNP	C	TCGA-XU-A933-01A-11D-A423-09	17621212	197182045	46017328	8	967											
SPEG	10290	genome.wustl.edu	37	chr2	220331922	220331922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagccggtccctggccGtgctggcccccctgcaggac	5	6	13	17	2	0	1	0	1	0	0	1	2	1	2	6	4	3	2	6	4	1	0	rs377353278		TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr2:220331922G>A	ENST00000312358.7	+	10	3040	c.2908G>A	c.(2908-2910)Gtg>Atg	p.V970M	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	970	Ig-like 4.				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)		GTCCCTGGCCGTGCTGGCCCC	0.677											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											0											0								G	MET/VAL	0,4046		0,0,2023	46	56	53		2908	4.8	1	2		53	1,8323		0,1,4161	no	missense	SPEG	NM_005876.4	21	0,1,6184	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	970/3268	220331922	1,12369	2023	4162	6185	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2908G>A	2.37:g.220331922G>A	ENSP00000311684:p.Val970Met	2265	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.V970M	ENST00000312358.7	37	c.2908	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527827	0.44969	0.0	1.2E-4	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67698	-0.28	4.75	4.75	0.60458	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36268	N	0.002685	T	0.73992	0.3658	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.75033	-0.3460	10	0.56958	D	0.05	.	12.3766	0.55283	0.083:0.0:0.917:0.0	.	970	Q15772	SPEG_HUMAN	M	970	ENSP00000311684:V970M	ENSP00000265327:V970M	V	+	1	0	SPEG	220040166	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.863000	0.62983	2.465000	0.83290	0.655000	0.94253	GTG	0	pfscan_Ig-like_dom		0.677	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	40	63	0	0.00	0	0	G	NM_005876	rs377353278	G->A		220331922	1	no_errors	ENST00000312358	ensembl	human	novel	74_37	missense	6	43	62.5	32.81	10	21	SNP	1	A	A	220331922	G	A	220331922	3	1	79	1	0	0	0	0	1	0	0	0	15035	1145	40	1	2958	1	SPEG	2	220331922	Missense_Mutation	SNP	G	TCGA-XU-A933-01A-11D-A423-09	23149877	220331922	22867451	9	968											
SNED1	25992	genome.wustl.edu	37	chr2	241992589	241992589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggactgcggccccccGgaggaggtgaagcacgccac	8	3	17	13	3	0	1	0	1	0	0	0	5	0	4	4	6	2	1	4	6	1	0			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr2:241992589G>A	ENST00000310397.8	+	16	2103	c.2103G>A	c.(2101-2103)ccG>ccA	p.P701P	SNED1_ENST00000342631.6_Silent_p.P701P|SNED1_ENST00000401884.1_Silent_p.P701P|SNED1_ENST00000405547.3_Silent_p.P701P|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	701	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)		GCGGCCCCCCGGAGGAGGTGA	0.716																																							0											0													15	20	19					2																	241992589		2072	4176	6248	SO:0001819	synonymous_variant	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2103G>A	2.37:g.241992589G>A			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.P701	ENST00000310397.8	37	c.2103	CCDS46562.1	2																																																																																			0	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.716	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	protein_coding	OTTHUMT00000323935.2	9	16	0	0.00	0	0	G	XM_059482	0	0		241992589	1	no_errors	ENST00000310397	ensembl	human	known	74_37	silent	12	19	29.41	44.12	5	15	SNP	0	A	A	241992589	G	A	241992589	2	1	79	1	0	0	0	0	0	0	0	1	14845	1103	39	2		2	SNED1	2	241992589	Silent	SNP	G	TCGA-XU-A933-01A-11D-A423-09	21660667	241992589	1206784	10	969											
HDLBP	3069	genome.wustl.edu	37	chr2	242192848	242192848	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatctgttcctgggccacaTtgacatcctctgtagggccc	6	12	9	14	0	2	1	0	1	2	0	4	1	4	1	4	2	0	2	4	2	2	4	rs7578199	byFrequency	TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr2:242192848T>C	ENST00000391975.1	-	10	1480	c.1253A>G	c.(1252-1254)aAt>aGt	p.N418S	HDLBP_ENST00000391976.2_Missense_Mutation_p.N418S|HDLBP_ENST00000427183.2_Missense_Mutation_p.N385S|HDLBP_ENST00000310931.4_Missense_Mutation_p.N418S|HDLBP_ENST00000476807.1_5'Flank	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	418	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.		N -> S (in dbSNP:rs7578199).		cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTGGGCCACATTGACATCCTC	0.498													T|||	690	0.13778	0.1785	0.1916	5008	,	,		20669	0.001		0.2684	False		,,,				2504	0.0511						0											0								T	SER/ASN,SER/ASN	805,3601	322.9+/-297.8	65,675,1463	228	187	201		1253,1253	-11.9	0	2	dbSNP_116	201	2118,6482	364.2+/-333.4	261,1596,2443	yes	missense,missense	HDLBP	NM_005336.4,NM_203346.3	46,46	326,2271,3906	CC,CT,TT		24.6279,18.2705,22.4742	benign,benign	418/1269,418/1269	242192848	2923,10083	2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1253A>G	2.37:g.242192848T>C	ENSP00000375836:p.Asn418Ser		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.N418S	ENST00000391975.1	37	c.1253	CCDS2547.1	2	356|356	0.163003663003663|0.163003663003663	76|76	0.15447154471544716|0.15447154471544716	79|79	0.21823204419889503|0.21823204419889503	1|1	0.0017482517482517483|0.0017482517482517483	200|200	0.2638522427440633|0.2638522427440633	T|T	6.318|6.318	0.426852|0.426852	0.11987|0.11987	0.182705|0.182705	0.246279|0.246279	ENSG00000115677|ENSG00000115677	ENST00000453141|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56	5.96|5.96	-11.9|-11.9	0.00025|0.00025	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.573156	.|0.21521	.|N	.|0.073204	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.10296	.|0.0;0.003;0.0	.|B;B;B	.|0.11329	.|0.005;0.006;0.005	T|T	0.15809|0.15809	-1.0424|-1.0424	4|9	.|0.28530	.|T	.|0.3	-18.9169|-18.9169	10.2925|10.2925	0.43605|0.43605	0.0:0.389:0.3221:0.2889|0.0:0.389:0.3221:0.2889	rs7578199;rs60102099;rs7578199|rs7578199;rs60102099;rs7578199	.|418;385;418	.|B2R5V9;E7EM71;Q00341	.|.;.;VIGLN_HUMAN	V|S	296|418;418;418;385	.|ENSP00000375836:N418S;ENSP00000375837:N418S;ENSP00000312042:N418S;ENSP00000399139:N385S	.|ENSP00000312042:N418S	M|N	-|-	1|2	0|0	HDLBP|HDLBP	241841521|241841521	0.029000|0.029000	0.19370|0.19370	0.000000|0.000000	0.03702|0.03702	0.038000|0.038000	0.13279|0.13279	0.019000|0.019000	0.13444|0.13444	-2.653000|-2.653000	0.00423|0.00423	-2.181000|-2.181000	0.00316|0.00316	ATG|AAT	0	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.498	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	protein_coding	OTTHUMT00000257245.5	52	224	0	0.00	0	0	T	NM_203346	rs7578199	T->C		242192848	-1	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	27	128	25	30.05	9	55	SNP	0	C	C	242192848	T	C	242192848	3	2	79	1	0	0	0	0	1	0	0	0	7025	1493	52	3	2629	3	HDLBP	2	242192848	Missense_Mutation	SNP	T	TCGA-XU-A933-01A-11D-A423-09	200259	242192848	1006525	11	970											
KIT	3815	genome.wustl.edu	37	chr4	55593610	55593610	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatgaagtacagtggaaggTtgttgaggagataaatggaa	15	10	15	1	0	0	3	0	2	0	1	0	6	0	5	0	4	1	4	0	4	7	5	rs121913517|rs121913685|rs121913511|rs121913510		TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr4:55593610T>G	ENST00000288135.5	+	11	1773	c.1676T>G	c.(1675-1677)gTt>gGt	p.V559G		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	559			Missing (in GIST). {ECO:0000269|PubMed:9697690}.|Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:9438854}.|V -> A (in GIST). {ECO:0000269|PubMed:11505412}.|V -> D (in GIST; somatic mutation). {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.V559D(58)|p.V559del(18)|p.W557_E561del(17)|p.V559A(16)|p.V559G(12)|p.K558_E562del(10)|p.W557_V559>C(9)|p.V559_E561del(8)|p.W557_V559del(7)|p.Q556_V560del(6)|p.V559_V560del(6)|p.K558_V560del(5)|p.K558_V559del(3)|p.W557_V560>C(3)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.V555_I571del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.K558_V559>N(2)|p.Q556_L576del(2)|p.K550_V559del(2)|p.K558_V560>N(2)|p.K558_V559>SS(2)|p.W557_P573>S(2)|p.K558_N564del(2)|p.W557_Q575del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.K558_V560>I(2)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.Q556_V559>H(1)|p.V559K(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.K558_G565del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.K558_D572del(1)|p.V559_I571del(1)|p.Q556_D572>PS(1)|p.Q556_D572del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.V555_V560>V(1)|p.Q556_V560>HNLQLY(1)|p.Q556_E561del(1)|p.K558_L576>NV(1)|p.Q556_E561>HH(1)|p.W557_V560>F(1)|p.W557_I571del(1)|p.V559_L576del(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.V559_E562del(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)|p.K558_G565>R(1)|p.V559_P573>A(1)|p.K558_V560>M(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)	CAGTGGAAGGTTGTTGAGGAG	0.388		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																														0	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"	267	Deletion - In frame(132)|Substitution - Missense(87)|Complex - deletion inframe(45)|Complex - compound substitution(2)|Complex - insertion inframe(1)	soft_tissue(257)|skin(8)|testis(1)|haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM013551	KIT	M	rs121913517						80	82	82					4																	55593610		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1676T>G	4.37:g.55593610T>G	ENSP00000288135:p.Val559Gly		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.V559G	ENST00000288135.5	37	c.1676	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526245	0.85600	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.95272	-3.66;-3.66	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000032	D	0.97377	0.9142	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.998	D	0.97974	1.0345	10	0.87932	D	0	.	16.6003	0.84812	0.0:0.0:0.0:1.0	.	66;555;559	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	G	559;555	ENSP00000288135:V559G;ENSP00000390987:V555G	ENSP00000288135:V559G	V	+	2	0	KIT	55288367	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.880000	0.87243	2.319000	0.78375	0.533000	0.62120	GTT	0	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom		0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	40	408	0	0.00	0	0	T		rs121913517	T->A,C,G		55593610	1	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	54	389	32.5	24.32	26	125	SNP	1	G	G	55593610	T	G	55593610	3	3	79	1	0	0	0	0	1	0	0	0	8329	1725	60	5	1718	5	KIT	4	55593610	Missense_Mutation	SNP	T	TCGA-XU-A933-01A-11D-A423-09		55593610	135560666	12	971											
CTNND2	1501	genome.wustl.edu	37	chr5	11385097	11385112	+	Frame_Shift_Del	DEL	GCCGAGCCGCCGCGCT	GCCGAGCCGCCGCGCT	-																															cgtaggtggcgccctcggggGccgagccgccgcgctgcagc																										TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	GCCGAGCCGCCGCGCT	GCCGAGCCGCCGCGCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr5:11385097_11385112delGCCGAGCCGCCGCGCT	ENST00000304623.8	-	7	1031_1046	c.842_857delAGCGCGGCGGCTCGGC	c.(841-858)cagcgcggcggctcggccfs	p.QRGGSA281fs	CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000495388.2_5'Flank|CTNND2_ENST00000359640.2_Frame_Shift_Del_p.QRGGSA281fs|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.QRGGSA190fs|CTNND2_ENST00000503622.1_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	281					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.A286T(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						gccctcgggggccgagccgccgcgctgcagcttggt	0.778																																							0											1	Substitution - Missense(1)	endometrium(1)																																								SO:0001589	frameshift_variant	0			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.842_857delAGCGCGGCGGCTCGGC	5.37:g.11385097_11385112delGCCGAGCCGCCGCGCT	ENSP00000307134:p.Gln281fs		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q281fs	ENST00000304623.8	37	c.857_842	CCDS3881.1	5																																																																																			0	NULL		0.778	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	protein_coding	OTTHUMT00000206999.1	57	12	0	0.00	0	0	GCCGAGCCGCCGCGCT	NM_001332	0	0		11385112	-1	no_errors	ENST00000304623	ensembl	human	known	74_37	frame_shift_del	24	8	22.58	0.00	7	0	DEL	1.000:1.000:0.994:1.000:1.000:0.999:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000	0	-	11385112	GCCGAGCCGCCGCGCT	-	11385097	7	5	79	1	0	1	0	1	0	0	0	0	4020	1203	42	0	2884	0	CTNND2	5	11385097	Frame_Shift_Del	DEL	GCCGAGCCGCCGCGCT	TCGA-XU-A933-01A-11D-A423-09		11385097	169530163	13	972											
GPR98	84059	genome.wustl.edu	37	chr5	90059169	90059169	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgaccctgattcatatgtGacattgacggttgtccggtc	8	13	11	9	2	1	4	1	4	0	0	3	5	2	4	2	2	0	1	2	2	1	4			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr5:90059169G>C	ENST00000405460.2	+	59	12264	c.12168G>C	c.(12166-12168)gtG>gtC	p.V4056V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4056	Calx-beta 27. {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)		ATTCATATGTGACATTGACGG	0.418																																							0											0													68	64	65					5																	90059169		1862	4105	5967	SO:0001819	synonymous_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12168G>C	5.37:g.90059169G>C			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.V4056	ENST00000405460.2	37	c.12168	CCDS47246.1	5																																																																																			0	pfam_Calx_beta,smart_Calx_beta		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	28	274	0	0.00	0	0	G	NM_032119	0	0		90059169	1	no_errors	ENST00000405460	ensembl	human	known	74_37	silent	24	147	29.41	29.38	10	62	SNP	1	C	C	90059169	G	C	90059169	2	2	79	1	0	0	0	0	0	0	0	1	6721	1277	45	5		5	GPR98	5	90059169	Silent	SNP	G	TCGA-XU-A933-01A-11D-A423-09	78674072	90059169	90856091	14	973											
C6orf192	116843	genome.wustl.edu	37	chr6	133095445	133095445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacaccagaagccatttcCttagaggctggtaaaggaga	15	7	10	9	0	0	3	0	0	0	3	1	4	1	3	3	3	2	2	3	3	5	3			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr6:133095445C>T	ENST00000275227.4	-	9	1001	c.905G>A	c.(904-906)aGg>aAg	p.R302K	SLC18B1_ENST00000538764.1_Missense_Mutation_p.R176K|SLC18B1_ENST00000367918.1_3'UTR	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	302					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											AAGCCATTTCCTTAGAGGCTG	0.383																																							0											0													93	97	95					6																	133095445		2203	4300	6503	SO:0001583	missense	0			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"Solute carriers"	21573	protein-coding gene	gene with protein product		613361	"chromosome 6 open reading frame 192"	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.905G>A	6.37:g.133095445C>T	ENSP00000275227:p.Arg302Lys		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R302K	ENST00000275227.4	37	c.905	CCDS5163.1	6	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033245	0.35893	.	.	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.63255	-0.03;-0.03	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.61476	0.2350	L	0.52011	1.625	0.80722	D	1	D;B	0.76494	0.999;0.083	D;B	0.80764	0.994;0.086	T	0.60239	-0.7302	10	0.02654	T	1	-15.633	18.1369	0.89622	0.0:1.0:0.0:0.0	.	176;302	B7Z1S5;Q6NT16	.;CF192_HUMAN	K	302;176	ENSP00000275227:R302K;ENSP00000444098:R176K	ENSP00000275227:R302K	R	-	2	0	C6orf192	133137138	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.268000	0.72552	2.625000	0.88918	0.655000	0.94253	AGG	0	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.383	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	protein_coding	OTTHUMT00000042273.1	106	193	0	0.51	0	1	C	NM_052831	0	0		133095445	-1	no_errors	ENST00000275227	ensembl	human	known	74_37	missense	79	113	28.18	35.96	31	64	SNP	1	T	T	133095445	C	T	133095445	3	4	79	1	0	0	0	0	1	0	0	0	2349	681	24	3	489	3	C6orf192	6	133095445	Missense_Mutation	SNP	C	TCGA-XU-A933-01A-11D-A423-09		133095445	38019622	15	974											
PPIA	5478	genome.wustl.edu	37	chr7	44840986	44840986	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggcaagaccagcaagAagatcaccattgctgactgt	14	7	11	9	0	1	4	1	1	0	3	1	5	1	5	2	2	2	3	2	2	4	1			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr7:44840986A>C	ENST00000468812.1	+	5	508	c.463A>C	c.(463-465)Aag>Cag	p.K155Q	PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000489459.1_Missense_Mutation_p.K95Q|PPIA_ENST00000355968.6_Missense_Mutation_p.K95Q	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	155	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	GACCAGCAAGAAGATCACCAT	0.478																																					Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)		0											0													44	38	40					7																	44840986		2202	4280	6482	SO:0001583	missense	0			X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	ENST00000468812.1:c.463A>C	7.37:g.44840986A>C	ENSP00000419425:p.Lys155Gln		A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.K155Q	ENST00000468812.1	37	c.463	CCDS5494.1	7	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380359	0.61845	.	.	ENSG00000196262	ENST00000468812;ENST00000489459;ENST00000355968;ENST00000395070;ENST00000244636	T;T;T	0.45276	0.9;0.9;0.9	4.86	4.86	0.63082	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.053667	0.64402	U	0.000001	T	0.36276	0.0961	L	0.38953	1.18	0.44719	D	0.99771	B	0.16802	0.019	B	0.22386	0.039	T	0.19582	-1.0301	10	0.56958	D	0.05	.	14.1228	0.65201	1.0:0.0:0.0:0.0	.	155	P62937	PPIA_HUMAN	Q	155;95;95;119;95	ENSP00000419425:K155Q;ENSP00000427976:K95Q;ENSP00000430817:K95Q	ENSP00000442606:K95Q	K	+	1	0	PPIA	44807511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.973000	0.76116	1.821000	0.53095	0.377000	0.23210	AAG	0	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom		0.478	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIA	protein_coding	OTTHUMT00000251293.1	45	0	2.17	0.00	1	0	A	NM_021130	0	0		44840986	1	no_errors	ENST00000468812	ensembl	human	known	74_37	missense	34	0	15	0.00	6	0	SNP	1	C	C	44840986	A	C	44840986	3	2	79	1	0	0	0	0	1	0	0	0	12316	247	9	5	481	5	PPIA	7	44840986	Missense_Mutation	SNP	A	TCGA-XU-A933-01A-11D-A423-09		44840986	114297677	16	975											
C8orf45	157777	genome.wustl.edu	37	chr8	67790820	67790820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttcaggatttcagtatAtaagagtgcatgtgcctggt	9	16	10	6	0	3	1	2	0	1	1	3	2	3	2	1	2	2	2	1	2	3	6	rs200037793		TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr8:67790820A>G	ENST00000422365.2	+	6	664	c.493A>G	c.(493-495)Ata>Gta	p.I165V	MCMDC2_ENST00000313616.5_Missense_Mutation_p.I165V|MCMDC2_ENST00000492775.1_Missense_Mutation_p.I165V|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000541540.1_Missense_Mutation_p.I102V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.I165V	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	165					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						ATTTCAGTATATAAGAGTGCA	0.308													A|||	1	0.000199681	8e-04	0	5008	,	,		13153	0		0	False		,,,				2504	0						0.9998,0.0001997											0													126	130	128					8																	67790820		2203	4298	6501	SO:0001583	missense	0			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.493A>G	8.37:g.67790820A>G	ENSP00000413632:p.Ile165Val		B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase	p.I165V	ENST00000422365.2	37	c.493	CCDS6197.2	8	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	12.80	2.046644	0.36085	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.28895	3.69;3.69;3.69;3.69;1.59	5.36	2.89	0.33648	.	0.048726	0.85682	N	0.000000	T	0.22322	0.0538	L	0.39397	1.21	0.39998	D	0.975131	B;B;B;B	0.18863	0.031;0.018;0.018;0.031	B;B;B;B	0.19666	0.026;0.012;0.012;0.026	T	0.07028	-1.0794	10	0.15952	T	0.53	-3.1743	9.8747	0.41195	0.8579:0.0:0.1421:0.0	.	102;165;165;165	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	V	37;165;165;165;165;102	ENSP00000379837:I165V;ENSP00000413632:I165V;ENSP00000428037:I165V;ENSP00000317234:I165V;ENSP00000445629:I102V	ENSP00000317234:I165V	I	+	1	0	C8orf45	67953374	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.903000	0.56318	0.310000	0.22990	-0.353000	0.07706	ATA	0	superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase		0.308	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	protein_coding	OTTHUMT00000347350.1	37	304	0	0.00	0	0	A	NM_173518	rs200037793	A->G		67790820	1	no_errors	ENST00000422365	ensembl	human	known	74_37	missense	99	156	33.56	35.27	50	85	SNP	1	G	G	67790820	A	G	67790820	3	3	79	1	0	0	0	0	1	0	0	0	2430	449	16	3	511	3	C8orf45	8	67790820	Missense_Mutation	SNP	A	TCGA-XU-A933-01A-11D-A423-09		67790820	78573202	17	976											
GDF6	392255	genome.wustl.edu	37	chr8	97157553	97157553	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcgccccctgcgggtcCagggtccgcgcgtccagcag	3	4	17	17	6	0	0	0	0	0	0	3	0	3	0	5	4	2	1	5	4	0	0			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr8:97157553C>G	ENST00000287020.5	-	2	705	c.606G>C	c.(604-606)ctG>ctC	p.L202L		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	202					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)					CCTGCGGGTCCAGGGTCCGCG	0.741																																							0											0													2	3	3					8																	97157553		1647	3446	5093	SO:0001819	synonymous_variant	0				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.606G>C	8.37:g.97157553C>G			Q6PI58	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.L202	ENST00000287020.5	37	c.606	CCDS34926.1	8																																																																																			0	pfam_TGF-b_N		0.741	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF6	protein_coding	OTTHUMT00000379862.2	8	20	0	0.00	0	0	C	NM_001001557	0	0		97157553	-1	no_errors	ENST00000287020	ensembl	human	known	74_37	silent	2	21	66.67	40.00	4	14	SNP	0.998	G	G	97157553	C	G	97157553	2	3	79	1	0	0	0	0	0	0	0	1	6317	581	21	5		5	GDF6	8	97157553	Silent	SNP	C	TCGA-XU-A933-01A-11D-A423-09	29366733	97157553	49206469	18	977											
POP1	10940	genome.wustl.edu	37	chr8	99169924	99169924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggccggcgagctcccGgcagaggccagcaaggattg	8	3	19	11	3	0	1	0	0	0	1	1	4	1	3	3	7	2	3	3	7	1	1			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr8:99169924G>A	ENST00000401707.2	+	16	2581	c.2500G>A	c.(2500-2502)Ggc>Agc	p.G834S	POP1_ENST00000349693.3_Missense_Mutation_p.G834S	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	834					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCGAGCTCCCGGCAGAGGCCA	0.587																																							0											0													36	41	40					8																	99169924		2203	4300	6503	SO:0001583	missense	0			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2500G>A	8.37:g.99169924G>A	ENSP00000385787:p.Gly834Ser		A8K5W9|Q15037	Missense_Mutation	SNP	pfam_RNase_P/MRP_POP1,pfam_POPLD	p.G834S	ENST00000401707.2	37	c.2500	CCDS6277.1	8	.	.	.	.	.	.	.	.	.	.	G	2.062	-0.415135	0.04766	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.10573	2.86;2.86	5.77	-8.53	0.00916	.	1.164950	0.05877	N	0.625723	T	0.04952	0.0133	L	0.31294	0.92	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.39941	-0.9589	10	0.09084	T	0.74	-9.0474	3.511	0.07708	0.5326:0.0907:0.1151:0.2616	.	834	Q99575	POP1_HUMAN	S	834	ENSP00000385787:G834S;ENSP00000339529:G834S	ENSP00000339529:G834S	G	+	1	0	POP1	99239100	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.558000	0.05978	-1.684000	0.01443	-1.394000	0.01149	GGC	0	NULL		0.587	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP1	protein_coding	OTTHUMT00000379470.1	58	123	1.64	0.00	1	0	G	NM_015029	0	0		99169924	1	no_errors	ENST00000349693	ensembl	human	known	74_37	missense	23	57	28.12	33.72	9	29	SNP	0	A	A	99169924	G	A	99169924	3	1	79	1	0	0	0	0	1	0	0	0	12251	1116	39	2	2558	2	POP1	8	99169924	Missense_Mutation	SNP	G	TCGA-XU-A933-01A-11D-A423-09	2012371	99169924	47194098	19	978											
CARD17	440068	genome.wustl.edu	37	chr11	104970124	104970124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatttgagaatcttgtgtaGtaaggtgatttccagatgtt	10	17	10	4	0	1	3	0	2	1	2	2	4	2	3	1	1	0	3	1	1	4	7			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr11:104970124G>T	ENST00000375707.1	-	3	315	c.299C>A	c.(298-300)aCt>aAt	p.T100N	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	100					regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						ATCTTGTGTAGTAAGGTGATT	0.383																																							0											0													126	119	121					11																	104970124		2202	4299	6501	SO:0001583	missense	0				CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"Inhibitory CARD"	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.299C>A	11.37:g.104970124G>T	ENSP00000364859:p.Thr100Asn			Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD	p.T100N	ENST00000375707.1	37	c.299	CCDS31662.1	11	.	.	.	.	.	.	.	.	.	.	.	0	-2.596598	0.00125	.	.	ENSG00000255221	ENST00000375707	T	0.17854	2.25	1.6	-3.2	0.05156	.	.	.	.	.	T	0.05456	0.0144	N	0.04297	-0.235	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31668	-0.9935	9	0.08837	T	0.75	.	5.3838	0.16206	0.0:0.2862:0.4889:0.2249	.	100	Q5XLA6	CAR17_HUMAN	N	100	ENSP00000364859:T100N	ENSP00000364859:T100N	T	-	2	0	CARD17	104475334	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.349000	0.00069	-2.726000	0.00386	-0.687000	0.03738	ACT	0	NULL		0.383	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD17	protein_coding	OTTHUMT00000388181.1	47	210	0	0.94	0	2	G	NM_001007232	0	0		104970124	-1	no_errors	ENST00000375707	ensembl	human	known	74_37	missense	38	109	26.92	32.30	14	52	SNP	0	T	T	104970124	G	T	104970124	3	4	79	1	0	0	0	0	1	0	0	0	2648	1029	36	5	37	5	CARD17	11	104970124	Missense_Mutation	SNP	G	TCGA-XU-A933-01A-11D-A423-09		104970124	30036392	20	979											
CHD8	57680	genome.wustl.edu	37	chr14	21868216	21868216	+	Frame_Shift_Del	DEL	C	C	-																															caggtagtatagcattcgtaCccgcaacagtaccctagaaa																										TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr14:21868216delC	ENST00000557364.1	-	25	5004	c.4741delG	c.(4741-4743)gtafs	p.V1581fs	SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Frame_Shift_Del_p.V1302fs|CHD8_ENST00000399982.2_Frame_Shift_Del_p.V1581fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1581					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)		AGCATTCGTACCCGCAACAGT	0.438																																							0											0													212	205	207					14																	21868216		1916	4132	6048	SO:0001589	frameshift_variant	0			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.4741delG	14.37:g.21868216delC	ENSP00000451601:p.Val1581fs		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	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.V1581fs	ENST00000557364.1	37	c.4741	CCDS53885.1	14																																																																																			0	NULL		0.438	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	protein_coding	OTTHUMT00000410436.1	42	219	0	0.00	0	0	C	NM_020920	0	0		21868216	-1	no_errors	ENST00000399982	ensembl	human	known	74_37	frame_shift_del	30	137	40	31.50	20	63	DEL	1	0	-	21868216	C	-	21868216	7	5	79	1	0	1	0	1	0	0	0	0	3331	507	18	0	3060	0	CHD8	14	21868216	Frame_Shift_Del	DEL	C	TCGA-XU-A933-01A-11D-A423-09		21868216	85481324	21	980											
ATP10A	57194	genome.wustl.edu	37	chr15	25971102	25971102	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctaggagacttaccgacTgctgaaaacagagacatgca	15	7	9	10	1	1	3	0	1	1	2	1	6	1	3	1	1	4	2	1	1	4	2			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr15:25971102T>G	ENST00000356865.6	-	5	1086	c.975A>C	c.(973-975)gcA>gcC	p.A325A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	325					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)		ACTTACCGACTGCTGAAAACA	0.587																																							0											0													112	92	99					15																	25971102		2203	4300	6503	SO:0001819	synonymous_variant	0			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.975A>C	15.37:g.25971102T>G			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.A325	ENST00000356865.6	37	c.975	CCDS32178.1	15																																																																																			0	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp		0.587	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	protein_coding	OTTHUMT00000414830.1	19	73	0	0.00	0	0	T	NM_024490	0	0		25971102	-1	no_errors	ENST00000356865	ensembl	human	known	74_37	silent	8	37	33.33	37.29	4	22	SNP	0.001	G	G	25971102	T	G	25971102	2	3	79	1	0	0	0	0	0	0	0	1	1116	1567	55	5		5	ATP10A	15	25971102	Silent	SNP	T	TCGA-XU-A933-01A-11D-A423-09		25971102	76560290	22	981											
ALPK3	57538	genome.wustl.edu	37	chr15	85405949	85405949	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggacaagctctttgggCgactggtaagcgaggagctc	8	7	18	8	2	1	0	0	0	1	0	2	4	1	2	0	6	3	3	0	6	2	2			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr15:85405949C>T	ENST00000258888.5	+	10	4986	c.4819C>T	c.(4819-4821)Cga>Tga	p.R1607*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1607	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				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)			GCTCTTTGGGCGACTGGTAAG	0.587																																							0											0													58	57	57					15																	85405949		2203	4299	6502	SO:0001587	stop_gained	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4819C>T	15.37:g.85405949C>T	ENSP00000258888:p.Arg1607*		Q9P2L6	Nonsense_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.R1607*	ENST00000258888.5	37	c.4819	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	C	46	12.581377	0.99680	.	.	ENSG00000136383	ENST00000258888	.	.	.	4.97	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1525	10.4838	0.44708	0.3514:0.6486:0.0:0.0	.	.	.	.	X	1607	.	ENSP00000258888:R1607X	R	+	1	2	ALPK3	83206953	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.639000	0.46570	1.286000	0.44565	0.655000	0.94253	CGA	0	superfamily_Kinase-like_dom,pfscan_MHCK_EF2_kinase		0.587	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	protein_coding	OTTHUMT00000308997.1	50	196	0	1.01	0	2	C	NM_020778	0	0		85405949	1	no_errors	ENST00000258888	ensembl	human	known	74_37	nonsense	23	94	32.35	38.16	11	58	SNP	1	T	T	85405949	C	T	85405949	4	4	79	1	0	0	0	0	0	1	0	0	546	760	27	1	4857	1	ALPK3	15	85405949	Nonsense_Mutation	SNP	C	TCGA-XU-A933-01A-11D-A423-09	59434847	85405949	17125443	23	982											
BRD7	29117	genome.wustl.edu	37	chr16	50357576	50357576	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctgccatgacatacggAtaatcttggcacgtggccaa	11	10	9	11	2	2	1	0	1	2	0	2	2	2	2	2	3	2	1	2	3	4	4			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr16:50357576A>C	ENST00000394688.3	-	12	1524	c.1365T>G	c.(1363-1365)taT>taG	p.Y455*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.Y455*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	455					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)				TGACATACGGATAATCTTGGC	0.443																																							0											0													108	91	97					16																	50357576		2198	4300	6498	SO:0001587	stop_gained	0			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.1365T>G	16.37:g.50357576A>C	ENSP00000378180:p.Tyr455*		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Nonsense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.Y455*	ENST00000394688.3	37	c.1365	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	A	37	6.084326	0.97267	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.53	-0.728	0.11162	.	0.187371	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.8448	7.115	0.25411	0.3973:0.0:0.4736:0.129	.	.	.	.	X	455	.	ENSP00000378180:Y455X	Y	-	3	2	BRD7	48915077	0.990000	0.36364	0.914000	0.36105	0.920000	0.55202	0.345000	0.19979	-0.161000	0.10983	0.533000	0.62120	TAT	0	pfam_DUF3512		0.443	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	protein_coding	OTTHUMT00000256874.3	77	85	0	0.00	0	0	A	NM_013263	0	0		50357576	-1	no_errors	ENST00000394689	ensembl	human	known	74_37	nonsense	16	19	52.94	61.22	18	30	SNP	0.812	C	C	50357576	A	C	50357576	4	2	79	1	0	0	0	0	0	1	0	0	1505	340	12	5	617	5	BRD7	16	50357576	Nonsense_Mutation	SNP	A	TCGA-XU-A933-01A-11D-A423-09		50357576	39997177	24	983											
FOXN1	8456	genome.wustl.edu	37	chr17	26851036	26851036	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcacgctgccgggccccAccagactggagggcgagcgc	7	3	15	16	5	1	1	1	0	0	1	1	3	1	2	4	3	2	1	4	3	0	0			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr17:26851036A>G	ENST00000226247.2	+	1	78	c.49A>G	c.(49-51)Acc>Gcc	p.T17A	FOXN1_ENST00000579795.1_Missense_Mutation_p.T17A	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	17					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)					GCCGGGCCCCACCAGACTGGA	0.677																																							0											0													23	25	24					17																	26851036		2203	4299	6502	SO:0001583	missense	0			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.49A>G	17.37:g.26851036A>G	ENSP00000226247:p.Thr17Ala		B2R9Q7|O15352	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T17A	ENST00000226247.2	37	c.49	CCDS11232.1	17	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443388	0.25987	.	.	ENSG00000109101	ENST00000226247	D	0.92446	-3.04	5.03	-8.54	0.00912	.	1.196700	0.05895	N	0.628926	T	0.81351	0.4804	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.66472	-0.5915	10	0.26408	T	0.33	.	7.5555	0.27822	0.1782:0.1188:0.5865:0.1165	.	17	O15353	FOXN1_HUMAN	A	17	ENSP00000226247:T17A	ENSP00000226247:T17A	T	+	1	0	FOXN1	23875163	0.076000	0.21285	0.626000	0.29213	0.949000	0.60115	-0.007000	0.12810	-1.346000	0.02211	-0.488000	0.04728	ACC	0	NULL		0.677	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	protein_coding	OTTHUMT00000255832.1	130	51	0	0.00	0	0	A		0	0		26851036	1	no_errors	ENST00000226247	ensembl	human	known	74_37	missense	79	58	20.2	27.50	20	22	SNP	0.071	G	G	26851036	A	G	26851036	3	3	79	1	0	0	0	0	1	0	0	0	6019	159	6	3	51	3	FOXN1	17	26851036	Missense_Mutation	SNP	A	TCGA-XU-A933-01A-11D-A423-09		26851036	54344174	25	984											
USP32	84669	genome.wustl.edu	37	chr17	58289456	58289456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaactcatatctttgttgCgaactggaaggacagatagg	12	10	11	8	1	2	1	1	0	1	1	2	4	2	3	1	3	3	1	1	3	5	4			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr17:58289456C>T	ENST00000300896.4	-	19	2302	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	USP32_ENST00000592339.1_Missense_Mutation_p.R373H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	703					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)			ATCTTTGTTGCGAACTGGAAG	0.313																																							0											0													84	84	84					17																	58289456		2203	4297	6500	SO:0001583	missense	0			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.2108G>A	17.37:g.58289456C>T	ENSP00000300896:p.Arg703His		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	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.R703H	ENST00000300896.4	37	c.2108	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.119717	0.94385	.	.	ENSG00000170832	ENST00000300896	T	0.54279	0.58	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	L	0.55990	1.75	0.80722	D	1	D	0.69078	0.997	P	0.61003	0.882	T	0.69412	-0.5152	10	0.62326	D	0.03	.	18.5194	0.90947	0.0:1.0:0.0:0.0	.	703	Q8NFA0	UBP32_HUMAN	H	703	ENSP00000300896:R703H	ENSP00000300896:R703H	R	-	2	0	USP32	55644238	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.679000	0.84048	2.438000	0.82558	0.655000	0.94253	CGC	0	NULL		0.313	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	protein_coding	OTTHUMT00000449235.2	57	395	0	0.50	0	2	C	NM_032582	0	0		58289456	-1	no_errors	ENST00000300896	ensembl	human	known	74_37	missense	152	394	9.52	13.32	16	61	SNP	1	T	T	58289456	C	T	58289456	3	4	79	1	0	0	0	0	1	0	0	0	17060	768	27	1	2770	1	USP32	17	58289456	Missense_Mutation	SNP	C	TCGA-XU-A933-01A-11D-A423-09	31438420	58289456	22905754	26	985											
QRICH2	84074	genome.wustl.edu	37	chr17	74273351	74273351	+	Frame_Shift_Del	DEL	G	G	-																															gtggctgcccccgcagcgccGgggcacagttgagtaggtgt																								rs367825841		TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr17:74273351delG	ENST00000262765.5	-	16	4839	c.4660delC	c.(4660-4662)cggfs	p.R1555fs		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1555										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						CCGCAGCGCCGGGGCACAGTT	0.607																																							0											0													42	50	47					17																	74273351		2203	4300	6503	SO:0001589	frameshift_variant	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4660delC	17.37:g.74273351delG	ENSP00000262765:p.Arg1555fs		A2RRE1|Q96LM3	Frame_Shift_Del	DEL	NULL	p.R1554fs	ENST00000262765.5	37	c.4660	CCDS32741.1	17																																																																																			0	NULL		0.607	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	protein_coding	OTTHUMT00000395140.1	104	80	0	0.00	0	0	G	NM_032134	0	0		74273351	-1	no_errors	ENST00000262765	ensembl	human	known	74_37	frame_shift_del	57	61	20.83	33.70	15	31	DEL	0.91	0	-	74273351	G	-	74273351	7	5	79	1	0	1	0	1	0	0	0	0	12880	1115	39	0	347	0	QRICH2	17	74273351	Frame_Shift_Del	DEL	G	TCGA-XU-A933-01A-11D-A423-09	15983895	74273351	6921859	27	986											
CARD14	79092	genome.wustl.edu	37	chr17	78182112	78182112	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgccgacgagcagaagAaggtggtgtggacggagcag	11	4	17	9	4	0	2	0	0	0	2	1	6	0	4	2	4	2	2	2	4	2	0			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr17:78182112A>G	ENST00000573882.1	+	23	3519	c.2983A>G	c.(2983-2985)Aag>Gag	p.K995E	RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.K995E|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	995					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)			CGAGCAGAAGAAGGTGGTGTG	0.657																																							0											0													33	36	35					17																	78182112		2198	4298	6496	SO:0001583	missense	0			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.2983A>G	17.37:g.78182112A>G	ENSP00000458715:p.Lys995Glu		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.K995E	ENST00000573882.1	37	c.2983	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060834	0.76074	.	.	ENSG00000141527	ENST00000344227	T	0.17528	2.27	3.92	3.92	0.45320	.	0.276135	0.33712	N	0.004634	T	0.31638	0.0803	M	0.70275	2.135	0.80722	D	1	D	0.61080	0.989	P	0.58331	0.837	T	0.03619	-1.1019	10	0.49607	T	0.09	-39.5438	8.4333	0.32771	0.8022:0.1978:0.0:0.0	.	995	Q9BXL6	CAR14_HUMAN	E	995	ENSP00000344549:K995E	ENSP00000344549:K995E	K	+	1	0	CARD14	75796707	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.371000	0.52379	1.651000	0.50673	0.528000	0.53228	AAG	0	superfamily_P-loop_NTPase		0.657	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	protein_coding	OTTHUMT00000437507.1	110	79	0	1.25	0	1	A		0	0		78182112	1	no_errors	ENST00000344227	ensembl	human	known	74_37	missense	56	77	33.33	28.70	28	31	SNP	1	G	G	78182112	A	G	78182112	3	3	79	1	0	0	0	0	1	0	0	0	2646	247	9	3	3226	3	CARD14	17	78182112	Missense_Mutation	SNP	A	TCGA-XU-A933-01A-11D-A423-09	3908761	78182112	3013098	28	987											
MUC16	94025	genome.wustl.edu	37	chr19	9016675	9016675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacttgtggggctggggaGggaggatggagtccctgacc	6	9	18	8	0	0	1	0	1	0	0	1	5	1	5	2	7	1	1	2	7	1	2			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr19:9016675G>T	ENST00000397910.4	-	28	38265	c.38062C>A	c.(38062-38064)Ctc>Atc	p.L12688I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12690					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						GGGCTGGGGAGGGAGGATGGA	0.478																																							0											0													51	52	52					19																	9016675		1886	4125	6011	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38062C>A	19.37:g.9016675G>T	ENSP00000381008:p.Leu12688Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L12688I	ENST00000397910.4	37	c.38062	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.997781	0.00435	.	.	ENSG00000181143	ENST00000397910	T	0.02015	4.5	1.23	-2.46	0.06461	.	.	.	.	.	T	0.01730	0.0055	L	0.33189	0.99	.	.	.	B	0.16166	0.016	B	0.06405	0.002	T	0.47535	-0.9110	8	0.87932	D	0	.	0.0952	0.00043	0.2886:0.1604:0.2304:0.3206	.	12688	B5ME49	.	I	12688	ENSP00000381008:L12688I	ENSP00000381008:L12688I	L	-	1	0	MUC16	8877675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.693000	0.05121	-3.279000	0.00197	-2.750000	0.00124	CTC	0	NULL		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	130	51	0	0.00	0	0	G	NM_024690	0	0		9016675	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	46	20	35.21	25.93	25	7	SNP	0	T	T	9016675	G	T	9016675	3	4	79	1	0	0	0	0	1	0	0	0	9973	1000	35	5	5689	5	MUC16	19	9016675	Missense_Mutation	SNP	G	TCGA-XU-A933-01A-11D-A423-09		9016675	50112308	29	988											
MYBL2	4605	genome.wustl.edu	37	chr20	42331285	42331285	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtgcccagtgtgacCgagtaccgcctggatggcca	6	7	14	14	2	0	1	0	1	0	0	0	3	0	2	6	3	2	1	6	3	1	1	rs181688716	byFrequency	TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr20:42331285C>T	ENST00000217026.4	+	8	1234	c.1107C>T	c.(1105-1107)acC>acT	p.T369T	MYBL2_ENST00000396863.4_Silent_p.T345T	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	369					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCAGTGTGACCGAGTACCGCC	0.642													C|||	2	0.000399361	0	0.0029	5008	,	,		18237	0		0	False		,,,				2504	0						0.9996,0.0003994											0								C		0,4406		0,0,2203	115	111	113		1107	-4.3	1	20		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYBL2	NM_002466.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		369/701	42331285	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1107C>T	20.37:g.42331285C>T			B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.T369	ENST00000217026.4	37	c.1107	CCDS13322.1	20																																																																																			0	NULL		0.642	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL2	protein_coding	OTTHUMT00000080408.1	35	80	0	0.00	0	0	C	NM_002466	rs181688716	C->T		42331285	1	no_errors	ENST00000217026	ensembl	human	known	74_37	silent	23	79	30.3	28.83	10	32	SNP	0.962	T	T	42331285	C	T	42331285	2	4	79	1	0	0	0	0	0	0	0	1	10010	639	23	2		2	MYBL2	20	42331285	Silent	SNP	C	TCGA-XU-A933-01A-11D-A423-09		42331285	20694235	30	989											
CASS4	57091	genome.wustl.edu	37	chr20	55028090	55028090	+	Missense_Mutation	SNP	G	G	A																															agcctccccaaagagaaactGaatcacaccaaaagagtacc																										TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr20:55028090G>A	ENST00000360314.3	+	6	2083	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.E620K	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	620					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAGAGAAACTGAATCACACCA	0.413																																							0											0													58	61	60					20																	55028090		2203	4300	6503	SO:0001583	missense	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1858G>A	20.37:g.55028090G>A	ENSP00000353462:p.Glu620Lys		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.E620K	ENST00000360314.3	37	c.1858	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.400662	0.96030	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.25414	1.8;1.8	6.17	6.17	0.99709	CAS family, DUF3513 (1);	0.734154	0.13562	N	0.378746	T	0.52158	0.1717	M	0.68317	2.08	0.52501	D	0.999957	D;D;D	0.69078	0.961;0.997;0.993	P;P;D	0.63113	0.764;0.856;0.911	T	0.37502	-0.9703	10	0.52906	T	0.07	-12.9138	20.8794	0.99867	0.0:0.0:1.0:0.0	.	566;620;620	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	K	620	ENSP00000353462:E620K;ENSP00000360387:E620K	ENSP00000353462:E620K	E	+	1	0	CASS4	54461497	0.770000	0.28543	0.228000	0.23943	0.186000	0.23388	2.419000	0.44671	2.941000	0.99782	0.655000	0.94253	GAA	0	pfam_CAS_DUF3513		0.413	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	protein_coding	OTTHUMT00000079789.2	62	322	0	0.00	0	0	G	NM_020356	0	0		55028090	1	no_errors	ENST00000360314	ensembl	human	known	74_37	missense	52	260	35	23.08	28	78	SNP	0.961	A	A	55028090	G	A	55028090	3	1	79	1	0	0	0	0	1	0	0	0	2683	1291	45	3	1876	3	CASS4	20	55028090	Missense_Mutation	SNP	G	TCGA-XU-A933-01A-11D-A423-09	12696805	55028090	7997430	31	990	4	2									
CASS4	57091	genome.wustl.edu	37	chr20	55028092	55028092	+	Missense_Mutation	SNP	A	A	T																															cctccccaaagagaaactgaAtcacaccaaaagagtacccc																										TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr20:55028092A>T	ENST00000360314.3	+	6	2085	c.1860A>T	c.(1858-1860)gaA>gaT	p.E620D	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.E620D	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	620					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAGAAACTGAATCACACCAAA	0.403																																							0											0													58	61	60					20																	55028092		2203	4300	6503	SO:0001583	missense	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1860A>T	20.37:g.55028092A>T	ENSP00000353462:p.Glu620Asp		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.E620D	ENST00000360314.3	37	c.1860	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	A	8.978	0.974509	0.18736	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.21932	1.98;1.98	6.17	-8.81	0.00813	CAS family, DUF3513 (1);	0.734154	0.13562	N	0.378746	T	0.10981	0.0268	L	0.41415	1.275	0.23107	N	0.998287	B;B;B	0.24882	0.031;0.113;0.053	B;B;B	0.25884	0.047;0.038;0.064	T	0.18209	-1.0344	10	0.26408	T	0.33	-12.9138	6.0965	0.20023	0.1194:0.2224:0.4994:0.1587	.	566;620;620	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	D	620	ENSP00000353462:E620D;ENSP00000360387:E620D	ENSP00000353462:E620D	E	+	3	2	CASS4	54461499	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.456000	0.06754	-1.106000	0.03008	-0.250000	0.11733	GAA	0	pfam_CAS_DUF3513		0.403	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	protein_coding	OTTHUMT00000079789.2	61	322	0	0.00	0	0	A	NM_020356	0	0		55028092	1	no_errors	ENST00000360314	ensembl	human	known	74_37	missense	53	261	34.57	23.24	28	79	SNP	0	T	T	55028092	A	T	55028092	3	4	79	1	0	0	0	0	1	0	0	0	2683	98	4	5	1878	5	CASS4	20	55028092	Missense_Mutation	SNP	A	TCGA-XU-A933-01A-11D-A423-09	2	55028092	7997428	32	991	4	2									
MED15	51586	genome.wustl.edu	37	chr22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-																															agcagcagcaggcggcgctaCagcagcagcagcagcagcag																										TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				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)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0																																										SO:0001651	inframe_deletion	0			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.532_534delCAG	22.37:g.20918826_20918828delCAG	ENSP00000263205:p.Gln188del	744	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	pfam_Mediator_Med15_met	p.Q181in_frame_del	ENST00000263205.7	37	c.532_534	CCDS33602.1	22																																																																																			0	pfam_Mediator_Med15_met		0.626	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	protein_coding	OTTHUMT00000320177.2	41	4	2.38	0.00	1	0	CAG	NM_015889	0	0		20918819	1	no_errors	ENST00000263205	ensembl	human	known	74_37	in_frame_del	20	4	13.04	0.00	3	0	DEL	0.686:0.761:0.805	0	-	20918819	CAG	-	20918817	7	5	79	1	0	1	0	1	0	0	0	0	9433	479	17	0	554	0	MED15	22	20918817	In_Frame_Del	DEL	CAG	TCGA-XU-A933-01A-11D-A423-09		20918817	30385749	33	992											
MID1	4281	genome.wustl.edu	37	chrX	10427745	10427745	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctggttgatggccttgAccatgaagatgtacttggtg	7	12	13	9	1	0	4	0	3	0	1	0	4	0	4	4	3	1	2	4	3	2	4			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chrX:10427745A>G	ENST00000317552.4	-	8	1788	c.1388T>C	c.(1387-1389)gTc>gCc	p.V463A	MID1_ENST00000380779.1_Missense_Mutation_p.V463A|MID1_ENST00000380782.2_Missense_Mutation_p.V463A|MID1_ENST00000380780.1_Missense_Mutation_p.V463A|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.V463A|MID1_ENST00000380785.1_Missense_Mutation_p.V463A|MID1_ENST00000380787.1_Missense_Mutation_p.V463A	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	463	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						GATGGCCTTGACCATGAAGAT	0.517																																							0											0													235	169	191					X																	10427745		2203	4300	6503	SO:0001583	missense	0			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.1388T>C	X.37:g.10427745A>G	ENSP00000312678:p.Val463Ala		B2RCG2|O75361|Q9BZX5	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,pfscan_Znf_RING,prints_Butyrophylin	p.V463A	ENST00000317552.4	37	c.1388	CCDS14138.1	X	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796037	0.90453	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.34	5.34	0.76211	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84520	0.5490	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.999;0.998	D	0.86070	0.1537	10	0.66056	D	0.02	.	14.4277	0.67227	1.0:0.0:0.0:0.0	.	463;463;413	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	A	463;463;463;463;463;463;463;413;463	ENSP00000414521:V463A;ENSP00000312678:V463A;ENSP00000370162:V463A;ENSP00000370156:V463A;ENSP00000370164:V463A;ENSP00000370157:V463A;ENSP00000370159:V463A;ENSP00000391154:V463A	ENSP00000312678:V463A	V	-	2	0	MID1	10387745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.772000	0.91757	1.787000	0.52448	0.481000	0.45027	GTC	0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.517	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	protein_coding	OTTHUMT00000055738.1	51	168	0	0.00	0	0	A		0	0		10427745	-1	no_errors	ENST00000317552	ensembl	human	known	74_37	missense	27	75	25	36.44	9	43	SNP	1	G	G	10427745	A	G	10427745	3	3	79	1	0	0	0	0	1	0	0	0	9576	275	10	3	627	3	MID1	23	10427745	Missense_Mutation	SNP	A	TCGA-XU-A933-01A-11D-A423-09		10427745	144842815	34	993											
ARMCX2	9823	genome.wustl.edu	37	chrX	100911457	100911457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttcataaggaaaggggCgcttctgcatggcaacgggt	11	9	13	8	2	2	0	1	0	1	0	2	1	2	1	0	5	2	3	0	5	4	3			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chrX:100911457C>T	ENST00000328766.5	-	5	1571	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.R373H|ARMCX2_ENST00000356824.4_Missense_Mutation_p.R373H	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	373						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGGAAAGGGGCGCTTCTGCAT	0.537																																							0											0													91	79	83					X																	100911457		2203	4300	6503	SO:0001583	missense	0			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1118G>A	X.37:g.100911457C>T	ENSP00000331662:p.Arg373His		O60267|Q5H9D9	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.R373H	ENST00000328766.5	37	c.1118	CCDS14490.1	X	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714272	0.48622	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.34667	1.35;1.35;1.35	3.77	3.77	0.43336	.	0.437146	0.20194	N	0.097257	T	0.24431	0.0592	N	0.19112	0.55	0.33792	D	0.625625	D	0.61080	0.989	B	0.43331	0.416	T	0.35699	-0.9778	10	0.51188	T	0.08	-4.9691	10.0786	0.42375	0.0:1.0:0.0:0.0	.	373	Q7L311	ARMX2_HUMAN	H	373	ENSP00000331662:R373H;ENSP00000328631:R373H;ENSP00000349281:R373H	ENSP00000331662:R373H	R	-	2	0	ARMCX2	100798113	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.861000	0.39438	2.131000	0.65755	0.422000	0.28245	CGC	0	NULL		0.537	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	protein_coding	OTTHUMT00000057586.1	81	155	0	0.00	0	0	C	NM_014782	0	0		100911457	-1	no_errors	ENST00000328766	ensembl	human	known	74_37	missense	26	74	37.21	36.97	16	44	SNP	1	T	T	100911457	C	T	100911457	3	4	79	1	0	0	0	0	1	0	0	0	960	768	27	1	784	1	ARMCX2	23	100911457	Missense_Mutation	SNP	C	TCGA-XU-A933-01A-11D-A423-09	90483712	100911457	54359103	35	994											
AFF2	2334	genome.wustl.edu	37	chrX	148069069	148069069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggatatggccgacaaaCtgacaagagaaaacaaaggt	18	5	11	7	1	0	2	0	1	0	1	0	5	0	3	1	3	2	0	1	3	6	1			TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chrX:148069069C>A	ENST00000370460.2	+	20	4275	c.3796C>A	c.(3796-3798)Ctg>Atg	p.L1266M	AFF2_ENST00000370457.5_Missense_Mutation_p.L1231M|AFF2_ENST00000286437.5_Missense_Mutation_p.L907M|AFF2_ENST00000342251.3_Missense_Mutation_p.L1233M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1266					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)					GGCCGACAAACTGACAAGAGA	0.468																																							0											0													183	142	156					X																	148069069		2203	4300	6503	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3796C>A	X.37:g.148069069C>A	ENSP00000359489:p.Leu1266Met		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.L1266M	ENST00000370460.2	37	c.3796	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710157	0.89018	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000008	D	0.89812	0.6823	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	0.99;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.986;0.998;0.999;0.999;0.999;1.0	D	0.91090	0.4906	10	0.87932	D	0	.	18.9513	0.92642	0.0:1.0:0.0:0.0	.	907;1231;1231;1227;1256;1266	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	M	1266;1231;1233;907	ENSP00000359489:L1266M;ENSP00000359486:L1231M;ENSP00000345459:L1233M;ENSP00000286437:L907M	ENSP00000286437:L907M	L	+	1	2	AFF2	147876775	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.040000	0.70980	2.423000	0.82170	0.600000	0.82982	CTG	0	pfam_TF_AF4/FMR2		0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	10	268	0	0.00	0	0	C	NM_002025	0	0		148069069	1	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	23	222	11.54	4.70	3	11	SNP	1	A	A	148069069	C	A	148069069	3	1	79	1	0	0	0	0	1	0	0	0	357	564	20	5	3929	5	AFF2	23	148069069	Missense_Mutation	SNP	C	TCGA-XU-A933-01A-11D-A423-09	47157612	148069069	7201491	36	995											
IDS	3423	genome.wustl.edu	37	chrX	148564527	148564527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagggatgtctgaaggcCggggatactggctataggca	10	8	16	7	1	1	2	0	2	1	0	1	4	1	4	1	6	1	2	1	6	4	3	rs113993946		TCGA-XU-A933-01A-11D-A423-09	TCGA-XU-A933-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	efc5c6fb-4660-49ff-acd5-ed6ae94a2881	11407dd0-5b1d-46b8-a640-3c2ae4071034	g.chrX:148564527C>T	ENST00000340855.6	-	9	1612	c.1403G>A	c.(1402-1404)cGg>cAg	p.R468Q	IDS_ENST00000537071.1_Missense_Mutation_p.R71Q|IDS_ENST00000541269.1_Missense_Mutation_p.R257Q|IDS_ENST00000422081.2_Missense_Mutation_p.R257Q	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	468			R -> G (in MPS2; mild to severe forms).|R -> L (in MPS2; mild to severe forms). {ECO:0000269|PubMed:7581397, ECO:0000269|PubMed:9222763, ECO:0000269|PubMed:9501270}.|R -> Q (in MPS2; severe/intermediate form; greatly reduced activity; poor transport to lysosomes). {ECO:0000269|PubMed:11683780, ECO:0000269|PubMed:7581397, ECO:0000269|PubMed:8664909, ECO:0000269|PubMed:8940265, ECO:0000269|PubMed:9222763, ECO:0000269|PubMed:9266380, ECO:0000269|PubMed:9375851, ECO:0000269|PubMed:9501270, ECO:0000269|PubMed:9660053, ECO:0000269|PubMed:9921913, ECO:0000269|PubMed:9950361}.|R -> W (in MPS2; mild to severe forms). {ECO:0000269|PubMed:10447264, ECO:0000269|PubMed:11683780, ECO:0000269|PubMed:1284597, ECO:0000269|PubMed:7728156, ECO:0000269|PubMed:8664909, ECO:0000269|PubMed:9266380, ECO:0000269|PubMed:9501270, ECO:0000269|PubMed:9660053, ECO:0000269|PubMed:9950361}.		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)					GTCTGAAGGCCGGGGATACTG	0.468																																							0											0			GRCh37	CM930422|CM950672	IDS	M	rs113993946						108	100	103					X																	148564527		2203	4300	6503	SO:0001583	missense	0			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.1403G>A	X.37:g.148564527C>T	ENSP00000339801:p.Arg468Gln		D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R468Q	ENST00000340855.6	37	c.1403	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576921	0.86645	.	.	ENSG00000010404	ENST00000340855;ENST00000537071;ENST00000541269	D;D;D	0.99760	-6.03;-6.33;-6.66	5.37	5.37	0.77165	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.97628	1.0140	10	0.72032	D	0.01	.	18.2398	0.89963	0.0:1.0:0.0:0.0	.	378;468	B4DGD7;P22304	.;IDS_HUMAN	Q	468;71;257	ENSP00000339801:R468Q;ENSP00000440324:R71Q;ENSP00000441261:R257Q	ENSP00000339801:R468Q	R	-	2	0	IDS	148372432	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	7.016000	0.76393	2.246000	0.74042	0.422000	0.28245	CGG	0	superfamily_Alkaline_phosphatase_core		0.468	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	protein_coding	OTTHUMT00000058677.3	130	269	0	0.00	0	0	C		rs113993946	C->A,G,T		148564527	-1	no_errors	ENST00000340855	ensembl	human	known	74_37	missense	52	125	34.18	39.90	27	83	SNP	1	T	T	148564527	C	T	148564527	3	4	79	1	0	0	0	0	1	0	0	0	7503	652	23	2	253	2	IDS	23	148564527	Missense_Mutation	SNP	C	TCGA-XU-A933-01A-11D-A423-09	495458	148564527	6706033	37	996											
TAS1R1	80835	genome.wustl.edu	37	chr1	6638782	6638782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccagacctgcttcccgcGcactgtggtgtttttggctt	5	13	11	12	2	0	1	0	0	0	1	1	1	1	1	3	2	2	4	3	2	1	4	rs142426315		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr1:6638782G>A	ENST00000333172.6	+	6	1857	c.1664G>A	c.(1663-1665)cGc>cAc	p.R555H	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_Missense_Mutation_p.A444T|TAS1R1_ENST00000351136.3_Missense_Mutation_p.R301H	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	555					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)		TGCTTCCCGCGCACTGTGGTG	0.577																																							0											0													71	68	69					1																	6638782		2203	4300	6503	SO:0001583	missense	0				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1664G>A	1.37:g.6638782G>A	ENSP00000331867:p.Arg555His		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.R555H	ENST00000333172.6	37	c.1664	CCDS81.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.213793|3.213793	0.58452|0.58452	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000328191|ENST00000333172;ENST00000437392;ENST00000351136	D|D;D	0.92199|0.91792	-2.99|-2.55;-2.91	5.04|5.04	4.12|4.12	0.48240|0.48240	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96103|0.96103	0.8730|0.8730	M|M	0.89095|0.89095	3.005|3.005	0.23287|0.23287	N|N	0.997978|0.997978	P|D;D	0.49253|0.89917	0.921|1.0;1.0	B|D;D	0.42422|0.91635	0.387|0.998;0.999	D|D	0.89985|0.89985	0.4103|0.4103	9|10	0.23891|0.87932	T|D	0.37|0	.|.	11.9663|11.9663	0.53038|0.53038	0.0834:0.0:0.9166:0.0|0.0834:0.0:0.9166:0.0	.|.	444|301;555	Q7RTX1-3|Q7RTX1-2;Q7RTX1	.|.;TS1R1_HUMAN	T|H	444|555;223;301	ENSP00000327705:A444T|ENSP00000331867:R555H;ENSP00000312558:R301H	ENSP00000327705:A444T|ENSP00000331867:R555H	A|R	+|+	1|2	0|0	TAS1R1|TAS1R1	6561369|6561369	1.000000|1.000000	0.71417|0.71417	0.678000|0.678000	0.29963|0.29963	0.367000|0.367000	0.29736|0.29736	6.572000|6.572000	0.74005|0.74005	2.310000|2.310000	0.77875|0.77875	0.655000|0.655000	0.94253|0.94253	GCA|CGC	0	NULL		0.577	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	protein_coding	OTTHUMT00000004211.1	24	93	0	0.00	0	0	G		0	0		6638782	1	no_errors	ENST00000333172	ensembl	human	known	74_37	missense	26	61	27.78	29.21	10	26	SNP	0.886	A	A	6638782	G	A	6638782	3	1	80	1	0	0	0	0	1	0	0	0	15559	1087	38	1	1686	1	TAS1R1	1	6638782	Missense_Mutation	SNP	G	TCGA-XU-A936-01A-11D-A428-09		6638782	242611839	1	997											
TRIM46	80128	genome.wustl.edu	37	chr1	155149536	155149536	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaccagtgctcagtgcCtaccaggccctcaaggtaag	11	7	9	14	0	3	0	3	0	0	0	3	0	3	0	4	2	3	2	4	2	3	2			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr1:155149536C>G	ENST00000334634.4	+	4	798	c.798C>G	c.(796-798)gcC>gcG	p.A266A	TRIM46_ENST00000543729.1_Silent_p.A273A|TRIM46_ENST00000368383.3_Silent_p.A266A|TRIM46_ENST00000368382.1_Silent_p.A243A|TRIM46_ENST00000368385.4_Silent_p.A266A|TRIM46_ENST00000392451.2_Silent_p.A266A|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Silent_p.A140A|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	266						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)			TGCTCAGTGCCTACCAGGCCC	0.587											OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													94	94	94					1																	155149536		2203	4300	6503	SO:0001819	synonymous_variant	0				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.798C>G	1.37:g.155149536C>G		1768	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.A266	ENST00000334634.4	37	c.798	CCDS1097.1	1																																																																																			0	NULL		0.587	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	protein_coding	OTTHUMT00000086728.1	42	213	0	0.00	0	0	C	NM_025058	0	0		155149536	1	no_errors	ENST00000334634	ensembl	human	known	74_37	silent	45	243	26.23	20.52	16	63	SNP	1	G	G	155149536	C	G	155149536	2	3	80	1	0	0	0	0	0	0	0	1	16518	668	24	5		5	TRIM46	1	155149536	Silent	SNP	C	TCGA-XU-A936-01A-11D-A428-09	148510754	155149536	94101085	2	998											
ASTN1	460	genome.wustl.edu	37	chr1	176992587	176992587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggggtccaggagccgccggGcacagaggtccatggcccag	8	3	17	13	2	0	1	0	0	0	1	2	2	2	2	5	6	1	1	5	6	0	0			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr1:176992587G>A	ENST00000367654.3	-	7	1602	c.1391C>T	c.(1390-1392)gCc>gTc	p.A464V	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.A464V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A464V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A464V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	464	EGF-like 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						GAGCCGCCGGGCACAGAGGTC	0.627																																							0											0													30	28	29					1																	176992587		2203	4300	6503	SO:0001583	missense	0			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.1391C>T	1.37:g.176992587G>A	ENSP00000356626:p.Ala464Val		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.A464V	ENST00000367654.3	37	c.1391		1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899740	0.91962	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.17854	2.25;2.66;2.67;2.25	5.91	5.91	0.95273	Epidermal growth factor-like (1);	0.050404	0.85682	D	0.000000	T	0.19327	0.0464	N	0.14661	0.345	0.58432	D	0.999996	P;P;P	0.50272	0.933;0.933;0.933	P;P;P	0.48982	0.597;0.597;0.597	T	0.01617	-1.1311	10	0.72032	D	0.01	-30.5436	19.8914	0.96931	0.0:0.0:1.0:0.0	.	464;464;464	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	464	ENSP00000356629:A464V;ENSP00000354536:A464V;ENSP00000356626:A464V;ENSP00000395041:A464V	ENSP00000354536:A464V	A	-	2	0	ASTN1	175259210	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.634000	0.67833	2.813000	0.96785	0.655000	0.94253	GCC	0	smart_EG-like_dom		0.627	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	protein_coding		25	70	0	0.00	0	0	G	NM_004319	0	0		176992587	-1	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	36	93	14.29	12.26	6	13	SNP	1	A	A	176992587	G	A	176992587	3	1	80	1	0	0	0	0	1	0	0	0	1064	1203	42	3	2565	3	ASTN1	1	176992587	Missense_Mutation	SNP	G	TCGA-XU-A936-01A-11D-A428-09	21843051	176992587	72258034	3	999											
C1orf26	54823	genome.wustl.edu	37	chr1	185191111	185191111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttccccaacccagcaGgcatcaagaaatctggtcta	12	9	6	14	0	5	1	2	0	3	1	6	1	6	1	3	2	2	2	3	2	4	2			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr1:185191111G>A	ENST00000367500.4	+	15	2417	c.2252G>A	c.(2251-2253)aGg>aAg	p.R751K	SWT1_ENST00000367501.3_Missense_Mutation_p.R751K	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	751										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CAACCCAGCAGGCATCAAGAA	0.343																																							0											0													154	164	160					1																	185191111		2203	4300	6503	SO:0001583	missense	0			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.2252G>A	1.37:g.185191111G>A	ENSP00000356470:p.Arg751Lys		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PIN_dom	p.R751K	ENST00000367500.4	37	c.2252	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296900	0.60086	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.23950	1.88;1.88	5.43	5.43	0.79202	.	0.114561	0.64402	D	0.000011	T	0.36663	0.0975	L	0.29908	0.895	0.33058	D	0.533673	D	0.69078	0.997	D	0.72625	0.978	T	0.47045	-0.9147	10	0.59425	D	0.04	.	11.4967	0.50413	0.0837:0.0:0.9163:0.0	.	751	Q5T5J6	SWT1_HUMAN	K	751	ENSP00000356471:R751K;ENSP00000356470:R751K	ENSP00000356470:R751K	R	+	2	0	SWT1	183457734	1.000000	0.71417	0.954000	0.39281	0.397000	0.30659	2.217000	0.42880	2.538000	0.85594	0.591000	0.81541	AGG	0	NULL		0.343	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	protein_coding	OTTHUMT00000085790.1	47	265	0	0.00	0	0	G	NM_017673	0	0		185191111	1	no_errors	ENST00000367500	ensembl	human	known	74_37	missense	69	382	13.75	11.32	11	49	SNP	0.997	A	A	185191111	G	A	185191111	3	1	80	1	0	0	0	0	1	0	0	0	2035	1000	35	3	2306	3	C1orf26	1	185191111	Missense_Mutation	SNP	G	TCGA-XU-A936-01A-11D-A428-09	8198524	185191111	64059510	4	1000											
OBSCN	84033	genome.wustl.edu	37	chr1	228466566	228466566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggcctctaccgcaagCtgatcatcagtgatgtccac	9	10	10	12	1	3	3	2	3	1	0	4	3	4	3	3	1	2	2	3	1	2	1			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr1:228466566C>T	ENST00000422127.1	+	26	7080	c.7036C>T	c.(7036-7038)Ctg>Ttg	p.L2346L	RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Silent_p.L1193L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L2346L|OBSCN_ENST00000570156.2_Silent_p.L2775L|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2346	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)				CTACCGCAAGCTGATCATCAG	0.622																																							0											0													56	61	59					1																	228466566		2162	4264	6426	SO:0001819	synonymous_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7036C>T	1.37:g.228466566C>T			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.L2346	ENST00000422127.1	37	c.7036	CCDS58065.1	1																																																																																			0	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		25	79	0	1.25	0	1	C	NM_052843	0	0		228466566	1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	25	126	16.67	7.35	5	10	SNP	1	T	T	228466566	C	T	228466566	2	4	80	1	0	0	0	0	0	0	0	1	10812	796	28	3		3	OBSCN	1	228466566	Silent	SNP	C	TCGA-XU-A936-01A-11D-A428-09	43275455	228466566	20784055	5	1001											
ATP6V1A	523	genome.wustl.edu	37	chr3	113497642	113497642	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatactcgatgaagataaAgaaagcacatttggttatgt	18	11	8	4	1	0	3	0	1	0	2	1	4	0	3	0	1	2	2	0	1	8	4			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr3:113497642A>G	ENST00000273398.3	+	2	150	c.42A>G	c.(40-42)aaA>aaG	p.K14K	ATP6V1A_ENST00000538620.1_5'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	14					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)	ATGAAGATAAAGAAAGCACAT	0.284																																							0											0													60	62	61					3																	113497642		2203	4298	6501	SO:0001819	synonymous_variant	0			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.42A>G	3.37:g.113497642A>G			B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	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.K14	ENST00000273398.3	37	c.42	CCDS2976.1	3																																																																																			0	superfamily_ATPase_F1_a/bsu_N		0.284	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1A	protein_coding	OTTHUMT00000354457.1	196	238	0	0.00	0	0	A	NM_001690	0	0		113497642	1	no_errors	ENST00000273398	ensembl	human	known	74_37	silent	147	130	29.33	30.85	61	58	SNP	0.939	G	G	113497642	A	G	113497642	2	3	80	1	0	0	0	0	0	0	0	1	1177	69	3	4		4	ATP6V1A	3	113497642	Silent	SNP	A	TCGA-XU-A936-01A-11D-A428-09		113497642	84524788	6	1002											
CCDC158	339965	genome.wustl.edu	37	chr4	77317601	77317601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgtgttttcaattattgTaccacgaatagatgacacaa	15	13	7	6	1	1	3	1	1	0	2	1	4	1	3	1	0	1	2	1	0	6	6			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr4:77317601T>C	ENST00000388914.3	-	3	261	c.109A>G	c.(109-111)Aca>Gca	p.T37A	CCDC158_ENST00000434846.2_Missense_Mutation_p.T37A|CCDC158_ENST00000504868.1_5'UTR	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	37										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						TCAATTATTGTACCACGAATA	0.318																																							0											0													66	63	64					4																	77317601		1814	4082	5896	SO:0001583	missense	0			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.109A>G	4.37:g.77317601T>C	ENSP00000373566:p.Thr37Ala		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.T37A	ENST00000388914.3	37	c.109	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	T	11.85	1.761530	0.31228	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.35236	1.42;1.32	5.94	1.72	0.24424	.	0.287705	0.25027	N	0.033704	T	0.13329	0.0323	N	0.02539	-0.55	0.25205	N	0.990025	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.21109	-1.0255	10	0.30854	T	0.27	.	7.9161	0.29818	0.0:0.2694:0.0:0.7306	.	37;37	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	A	37	ENSP00000373566:T37A;ENSP00000401742:T37A	ENSP00000316815:T37A	T	-	1	0	CCDC158	77536625	0.998000	0.40836	0.992000	0.48379	0.855000	0.48748	0.664000	0.25068	0.477000	0.27464	0.455000	0.32223	ACA	0	NULL		0.318	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	protein_coding	OTTHUMT00000362694.2	95	269	0	0.00	0	0	T	NM_001042784	0	0		77317601	-1	no_errors	ENST00000388914	ensembl	human	known	74_37	missense	117	203	7.14	15.77	9	38	SNP	0.961	C	C	77317601	T	C	77317601	3	2	80	1	0	0	0	0	1	0	0	0	2790	1638	57	3	3320	3	CCDC158	4	77317601	Missense_Mutation	SNP	T	TCGA-XU-A936-01A-11D-A428-09		77317601	113836675	7	1003											
SMARCAD1	56916	genome.wustl.edu	37	chr4	95200079	95200080	+	Splice_Site	INS	-	-	A																															gtgttctctttgagtcacagINSaaaaaaacacagaaatgtgc																										TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr4:95200079_95200080insA	ENST00000354268.4	+	19	2369_2370		c.e19-1		SMARCAD1_ENST00000509418.1_Splice_Site|SMARCAD1_ENST00000457823.2_Frame_Shift_Ins_p.E768fs			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						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)		TTGAGTCACAGAAAAAAACACA	0.317																																							0											0																																										SO:0001630	splice_region_variant	0			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.2297-1->A	4.37:g.95200086_95200086dupA			B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Frame_Shift_Ins	INS	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.N770fs	ENST00000354268.4	37	c.2302_2303	CCDS3639.1	4																																																																																			0	pfam_SNF2_N,superfamily_P-loop_NTPase		0.317	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	protein_coding	OTTHUMT00000253583.1	49	243	0	0.00	0	0	0	NM_020159	0	0	Intron	95200080	1	no_errors	ENST00000359052	ensembl	human	known	74_37	frame_shift_ins	74	174	17.78	16.35	16	34	INS	1.000:1.000	A	A	95200080	-	A	95200079	8	5	80	1	0	1	1	0	0	0	1	0	14772	956	33	0	2372	0	SMARCAD1	4	95200079	Splice_Site	INS	-	TCGA-XU-A936-01A-11D-A428-09	17882478	95200079	95954197	8	1004											
RG9MTD2	93587	genome.wustl.edu	37	chr4	100478534	100478534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcccgtcggttttctgCgtaacatcgttgaatctgct	6	14	10	11	4	2	1	0	1	2	0	4	1	2	1	1	1	4	4	1	1	2	4	rs149241895	byFrequency	TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr4:100478534C>T	ENST00000273962.3	-	4	700	c.388G>A	c.(388-390)Gca>Aca	p.A130T	TRMT10A_ENST00000394877.3_Missense_Mutation_p.A130T|TRMT10A_ENST00000394876.2_Missense_Mutation_p.A130T	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	130	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CGGTTTTCTGCGTAACATCGT	0.348													C|||	2	0.000399361	0	0	5008	,	,		16837	0		0	False		,,,				2504	0.002						0.9996,0.0003994											0								C	THR/ALA,THR/ALA,THR/ALA	0,4406	2.1+/-5.4	0,0,2203	107	101	103		388,388,388	4.5	1	4	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	RG9MTD2	NM_001134665.1,NM_001134666.1,NM_152292.4	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	130/340,130/340,130/340	100478534	1,13005	2203	4300	6503	SO:0001583	missense	0			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.388G>A	4.37:g.100478534C>T	ENSP00000273962:p.Ala130Thr		B2R8X7|Q9Y2T9	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.A130T	ENST00000273962.3	37	c.388	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882153	0.51908	0.0	1.16E-4	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.33	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	L	0.45581	1.43	0.53688	D	0.999978	P	0.47191	0.891	B	0.37508	0.252	T	0.03068	-1.1076	10	0.30854	T	0.27	-15.8804	15.4643	0.75387	0.1398:0.8602:0.0:0.0	.	130	Q8TBZ6	RG9D2_HUMAN	T	130	ENSP00000378343:A130T;ENSP00000273962:A130T;ENSP00000378342:A130T;ENSP00000397551:A130T;ENSP00000423628:A130T	ENSP00000273962:A130T	A	-	1	0	RG9MTD2	100697557	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	4.866000	0.63005	1.459000	0.47892	-0.181000	0.13052	GCA	0	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10		0.348	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	protein_coding	OTTHUMT00000253668.1	58	226	0	0.00	0	0	C	NM_152292	rs149241895	C->T		100478534	-1	no_errors	ENST00000273962	ensembl	human	known	74_37	missense	53	169	10.17	18.36	6	38	SNP	1	T	T	100478534	C	T	100478534	3	4	80	1	0	0	0	0	1	0	0	0	13272	768	27	1	651	1	RG9MTD2	4	100478534	Missense_Mutation	SNP	C	TCGA-XU-A936-01A-11D-A428-09	5278455	100478534	90675742	9	1005											
MAML3	55534	genome.wustl.edu	37	chr4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-																															ctggagctgtggaggtggcgGctgctgctgctgctgctgct																								rs372496848		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del|MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del	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)					GGAGGTGGCGgctgctgctgctg	0.586																																							0											0																																										SO:0001651	inframe_deletion	0			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.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del			In_Frame_Del	DEL	pfam_Neuroggenic_mastermind-like_N	p.Q650in_frame_del	ENST00000509479.2	37	c.1951_1949	CCDS54805.1	4																																																																																			0	NULL		0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	protein_coding	OTTHUMT00000364934.2	27	29	0	0.00	0	0	GCT		0	0		140810641	-1	no_errors	ENST00000509479	ensembl	human	known	74_37	in_frame_del	23	10	17.86	0.00	5	0	DEL	0.196:0.001:0.000	0	-	140810641	GCT	-	140810639	7	5	80	1	0	1	0	1	0	0	0	0	9207	1203	42	0	1481	0	MAML3	4	140810639	In_Frame_Del	DEL	GCT	TCGA-XU-A936-01A-11D-A428-09	40332105	140810639	50343637	10	1006											
RAPGEF6	51735	genome.wustl.edu	37	chr5	130815362	130815362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgctggatagaatggCgattactttttttttcagca	10	15	9	7	1	1	1	1	0	0	1	1	3	1	2	0	2	3	3	0	2	3	6	rs182045582		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr5:130815362C>A	ENST00000509018.1	-	16	2130	c.1925G>T	c.(1924-1926)cGc>cTc	p.R642L	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R642L|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R642L|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.R357L|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.R642L|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R642L|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R642L|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.R692L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	642					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)		GATAGAATGGCGATTACTTTT	0.358																																					Melanoma(168;435 1955 13113 13877 23213)		0											0													171	164	166					5																	130815362		2203	4300	6503	SO:0001583	missense	0			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.1925G>T	5.37:g.130815362C>A	ENSP00000421684:p.Arg642Leu		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	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.R642L	ENST00000509018.1	37	c.1925	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.223563	0.95139	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.30182	1.67;1.62;1.6;1.68;1.56;1.54;2.1;1.77	5.91	5.91	0.95273	Ras guanine nucleotide exchange factor, domain (1);	0.057616	0.64402	D	0.000001	T	0.58807	0.2148	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.996;0.998;1.0;1.0;0.986;0.997	D;D;D;D;D;P;D	0.87578	0.983;0.952;0.988;0.998;0.993;0.851;0.972	T	0.58387	-0.7645	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	642;642;642;357;692;642;642	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	L	642;642;642;642;642;357;642;642;692	ENSP00000421684:R642L;ENSP00000309298:R642L;ENSP00000426081:R642L;ENSP00000296859:R642L;ENSP00000426910:R357L;ENSP00000311419:R642L;ENSP00000425389:R642L;ENSP00000426948:R692L	ENSP00000426948:R692L	R	-	2	0	RAPGEF6;FNIP1	130843261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.793000	0.96121	0.655000	0.94253	CGC	0	superfamily_Ras_GEF_dom		0.358	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	protein_coding	OTTHUMT00000370059.1	79	273	0	0.00	0	0	C	NM_016340	0	0		130815362	-1	no_errors	ENST00000509018	ensembl	human	known	74_37	missense	80	248	15.79	11.43	15	32	SNP	1	A	A	130815362	C	A	130815362	3	1	80	1	0	0	0	0	1	0	0	0	13048	768	27	5	3418	5	RAPGEF6	5	130815362	Missense_Mutation	SNP	C	TCGA-XU-A936-01A-11D-A428-09		130815362	50099898	11	1007											
PCDHGA4	56111	genome.wustl.edu	37	chr5	140736822	140736822	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccttcagcagacccagaCgactcgggcctcacactcta	11	6	8	16	2	3	2	2	0	1	2	4	3	3	2	3	1	2	1	3	1	2	2			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr5:140736822C>T	ENST00000571252.1	+	1	2055	c.2055C>T	c.(2053-2055)gaC>gaT	p.D685D	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	685					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)			CAGACCCAGACGACTCGGGCC	0.617																																							0											0													37	41	40					5																	140736822		2192	4296	6488	SO:0001819	synonymous_variant	0			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.2055C>T	5.37:g.140736822C>T			Q9Y5D3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D685	ENST00000571252.1	37	c.2055	CCDS58979.1	5																																																																																			0	NULL		0.617	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	protein_coding	OTTHUMT00000437959.1	30	60	0	0.00	0	0	C	NM_018917	0	0		140736822	1	no_errors	ENST00000571252	ensembl	human	known	74_37	silent	44	45	12	13.46	6	7	SNP	0	T	T	140736822	C	T	140736822	2	4	80	1	0	0	0	0	0	0	0	1	11556	535	19	1		1	PCDHGA4	5	140736822	Silent	SNP	C	TCGA-XU-A936-01A-11D-A428-09	9921460	140736822	40178438	12	1008											
SH3PXD2B	285590	genome.wustl.edu	37	chr5	171766742	171766742	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgctgcccgtgttgttcTccagcgctgctgcttccccc	1	13	9	18	3	1	0	0	0	1	0	4	0	2	0	4	0	4	6	4	0	0	4			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr5:171766742T>G	ENST00000311601.5	-	13	1537	c.1367A>C	c.(1366-1368)gAg>gCg	p.E456A	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	456					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)			CGTGTTGTTCTCCAGCGCTGC	0.642																																							0											0													46	49	48					5																	171766742		2203	4300	6503	SO:0001583	missense	0			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.1367A>C	5.37:g.171766742T>G	ENSP00000309714:p.Glu456Ala		B6F0V2|Q9P2Q1	Missense_Mutation	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.E456A	ENST00000311601.5	37	c.1367	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	T	9.260	1.043017	0.19748	.	.	ENSG00000174705	ENST00000311601	T	0.62498	0.02	5.93	5.93	0.95920	.	0.385213	0.26116	N	0.026253	T	0.56277	0.1974	L	0.58101	1.795	0.43199	D	0.995042	B	0.34015	0.435	B	0.27887	0.084	T	0.55617	-0.8113	9	.	.	.	-25.9654	14.335	0.66584	0.0:0.0:0.0:1.0	.	456	A1X283	SPD2B_HUMAN	A	456	ENSP00000309714:E456A	.	E	-	2	0	SH3PXD2B	171699347	0.177000	0.23109	0.512000	0.27736	0.009000	0.06853	1.836000	0.39191	2.271000	0.75665	0.459000	0.35465	GAG	0	NULL		0.642	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	protein_coding	OTTHUMT00000372449.1	25	84	0	0.00	0	0	T	NM_017963	0	0		171766742	-1	no_errors	ENST00000311601	ensembl	human	known	74_37	missense	32	74	8.57	10.84	3	9	SNP	0.997	G	G	171766742	T	G	171766742	3	3	80	1	0	0	0	0	1	0	0	0	14257	1551	54	5	1372	5	SH3PXD2B	5	171766742	Missense_Mutation	SNP	T	TCGA-XU-A936-01A-11D-A428-09	31029920	171766742	9148518	13	1009											
TNXB	7148	genome.wustl.edu	37	chr6	32029977	32029977	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccacacgctggccaccGtggaagccgtacaggttcat	8	6	13	14	3	1	0	1	0	0	0	1	1	1	1	4	4	2	3	4	4	2	2	rs372616750		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr6:32029977G>A	ENST00000375244.3	-	20	7326	c.7125C>T	c.(7123-7125)caC>caT	p.H2375H	TNXB_ENST00000375247.2_Silent_p.H2375H			P22105	TENX_HUMAN	tenascin XB	2437	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						GCTGGCCACCGTGGAAGCCGT	0.642													G|||	1	0.000199681	0	0	5008	,	,		17963	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0													32	37	36					6																	32029977		1296	2558	3854	SO:0001819	synonymous_variant	0			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.7125C>T	6.37:g.32029977G>A			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.H2375	ENST00000375244.3	37	c.7125		6																																																																																			0	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	36	16	0	0.00	0	0	G	NM_019105	rs372616750	G->A		32029977	-1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	24	7	20	0.00	6	0	SNP	0.001	A	A	32029977	G	A	32029977	2	1	80	1	0	0	0	0	0	0	0	1	16343	1136	40	1		1	TNXB	6	32029977	Silent	SNP	G	TCGA-XU-A936-01A-11D-A428-09		32029977	139085090	14	1010											
VPS13B	157680	genome.wustl.edu	37	chr8	100115327	100115327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtaggtgaattatgggatCgtgcattcatggatatttct	10	15	11	5	1	2	1	1	1	1	0	3	3	2	3	0	3	1	2	0	3	4	5	rs367561688		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr8:100115327C>T	ENST00000358544.2	+	5	670	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	VPS13B_ENST00000441350.2_Missense_Mutation_p.R187C|VPS13B_ENST00000355155.1_Missense_Mutation_p.R187C|VPS13B_ENST00000357162.2_Missense_Mutation_p.R187C|VPS13B_ENST00000395996.1_Missense_Mutation_p.R187C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	187					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)			ATTATGGGATCGTGCATTCAT	0.333																																					Colon(161;2205 2542 7338 31318)		0											0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	157	146	150		559,559,559,559	5.9	1	8		150	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	VPS13B	NM_015243.2,NM_017890.3,NM_152564.3,NM_181661.2	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	187/864,187/4023,187/3998,187/416	100115327	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.559C>T	8.37:g.100115327C>T	ENSP00000351346:p.Arg187Cys		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R187C	ENST00000358544.2	37	c.559	CCDS6280.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.325243|4.325243	0.81580|0.81580	0.0|0.0	1.16E-4|1.16E-4	ENSG00000132549|ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350|ENST00000524330	T;T;T;T;D|.	0.83914|.	-1.21;-0.5;-0.5;-0.22;-1.78|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.065415|.	0.64402|.	D|.	0.000020|.	T|T	0.69324|0.69324	0.3098|0.3098	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D|.	0.89917|.	1.0;0.999;0.999;0.999;0.995|.	P;P;P;P;P|.	0.62014|.	0.897;0.72;0.804;0.851;0.711|.	T|T	0.65619|0.65619	-0.6124|-0.6124	10|5	0.66056|.	D|.	0.02|.	.|.	15.1139|15.1139	0.72384|0.72384	0.1415:0.8585:0.0:0.0|0.1415:0.8585:0.0:0.0	.|.	187;187;187;187;187|.	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5|.	.;VP13B_HUMAN;.;.;.|.	C|L	187|14	ENSP00000347281:R187C;ENSP00000349685:R187C;ENSP00000351346:R187C;ENSP00000379318:R187C;ENSP00000398472:R187C|.	ENSP00000347281:R187C|.	R|S	+|+	1|2	0|0	VPS13B|VPS13B	100184503|100184503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.372000|3.372000	0.52387|0.52387	2.812000|2.812000	0.96745|0.96745	0.557000|0.557000	0.71058|0.71058	CGT|TCG	0	NULL		0.333	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	protein_coding	OTTHUMT00000277138.1	34	227	0	0.44	0	1	C	NM_184042	rs367561688	C->T		100115327	1	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	66	255	13.16	11.42	10	33	SNP	1	T	T	100115327	C	T	100115327	3	4	80	1	0	0	0	0	1	0	0	0	17187	884	31	2	573	2	VPS13B	8	100115327	Missense_Mutation	SNP	C	TCGA-XU-A936-01A-11D-A428-09		100115327	46248695	15	1011											
CER1	9350	genome.wustl.edu	37	chr9	14720321	14720321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaaaatgaacagaccCgcatttcccaaagcaaaggt	16	6	8	11	1	0	2	0	1	0	1	2	3	2	3	3	2	2	2	3	2	5	1			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr9:14720321C>T	ENST00000380911.3	-	2	615	c.571G>A	c.(571-573)Ggg>Agg	p.G191R		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	191	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|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 mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TGAACAGACCCGCATTTCCCA	0.463																																							0											0													90	77	81					9																	14720321		2203	4300	6503	SO:0001583	missense	0			AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)", "cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.571G>A	9.37:g.14720321C>T	ENSP00000370297:p.Gly191Arg		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C	p.G191R	ENST00000380911.3	37	c.571	CCDS6476.1	9	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733652	0.30684	.	.	ENSG00000147869	ENST00000380911	T	0.29397	1.57	5.52	2.13	0.27403	DAN (1);Cystine knot, C-terminal (2);	0.613165	0.16357	N	0.217960	T	0.17704	0.0425	L	0.41824	1.3	0.22435	N	0.999102	P	0.42296	0.775	B	0.34138	0.176	T	0.09773	-1.0659	10	0.23302	T	0.38	-9.6661	5.5803	0.17247	0.0:0.4781:0.0:0.5219	.	191	O95813	CER1_HUMAN	R	191	ENSP00000370297:G191R	ENSP00000370297:G191R	G	-	1	0	CER1	14710321	0.406000	0.25344	0.163000	0.22734	0.685000	0.39939	0.747000	0.26290	0.791000	0.33826	0.655000	0.94253	GGG	0	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C		0.463	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CER1	protein_coding	OTTHUMT00000055453.1	42	223	0	0.00	0	0	C	NM_005454	0	0		14720321	-1	no_errors	ENST00000380911	ensembl	human	known	74_37	missense	47	192	12.96	14.29	7	32	SNP	0.729	T	T	14720321	C	T	14720321	3	4	80	1	0	0	0	0	1	0	0	0	3265	652	23	2	236	2	CER1	9	14720321	Missense_Mutation	SNP	C	TCGA-XU-A936-01A-11D-A428-09		14720321	126493110	16	1012											
IGF2	3481	genome.wustl.edu	37	chr11	2154871	2154871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgatgccacggctgcgaCggctcacacggcttgcgggc	7	5	14	15	6	1	0	1	0	0	0	1	2	1	0	1	4	4	3	1	4	1	1			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr11:2154871C>T	ENST00000416167.2	-	3	1348	c.182G>A	c.(181-183)cGt>cAt	p.R61H	IGF2_ENST00000434045.2_Missense_Mutation_p.R117H|IGF2_ENST00000418738.2_Missense_Mutation_p.R61H|IGF2_ENST00000381395.1_Missense_Mutation_p.R61H|IGF2_ENST00000381392.1_Missense_Mutation_p.R64H|IGF2_ENST00000381389.1_Missense_Mutation_p.R61H|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381406.4_Missense_Mutation_p.R64H|IGF2_ENST00000300632.5_Missense_Mutation_p.R61H			P01344	IGF2_HUMAN	insulin-like growth factor 2	61	C.				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)		ACGGCTGCGACGGCTCACACG	0.662																																							0											0													48	38	41					11																	2154871		2202	4298	6500	SO:0001583	missense	0			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	ENST00000416167.2:c.182G>A	11.37:g.2154871C>T	ENSP00000414497:p.Arg61His		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.R117H	ENST00000416167.2	37	c.350	CCDS7728.1	11	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320601	0.81469	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	D;D;D;D;D;D;D;D;D	0.91351	-2.83;-2.66;-2.83;-2.83;-2.83;-2.66;-2.83;-2.83;-2.83	2.87	0.868	0.19090	Insulin-like (4);	0.508000	0.19414	U	0.114865	D	0.94984	0.8377	M	0.92784	3.345	0.18873	N	0.999981	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.958	D	0.87505	0.2436	10	0.72032	D	0.01	-13.0814	6.3957	0.21611	0.0:0.7011:0.1865:0.1124	.	117;61	C9JAF2;P01344	.;IGF2_HUMAN	H	61;64;61;61;64;117;64;61;61;61;64	ENSP00000370802:R61H;ENSP00000370813:R64H;ENSP00000414497:R61H;ENSP00000300632:R61H;ENSP00000391826:R117H;ENSP00000370799:R64H;ENSP00000370796:R61H;ENSP00000402047:R61H;ENSP00000338297:R61H	ENSP00000300632:R61H	R	-	2	0	IGF2	2111447	0.595000	0.26857	0.135000	0.22099	0.886000	0.51366	1.205000	0.32308	0.106000	0.17784	0.450000	0.29827	CGT	0	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2		0.662	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2	protein_coding	OTTHUMT00000026053.2	37	107	0	0.00	0	0	C	NM_000612	0	0		2154871	-1	no_errors	ENST00000434045	ensembl	human	known	74_37	missense	34	93	17.07	9.71	7	10	SNP	0.035	T	T	2154871	C	T	2154871	3	4	80	1	0	0	0	0	1	0	0	0	7572	536	19	1	368	1	IGF2	11	2154871	Missense_Mutation	SNP	C	TCGA-XU-A936-01A-11D-A428-09		2154871	132851645	17	1013											
BSCL2	26580	genome.wustl.edu	37	chr11	62462143	62462143	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggggactctggcagctcaAgctctaaggtaacacgatac	12	7	11	11	1	3	0	1	0	2	0	3	2	3	1	0	4	4	4	0	4	4	3			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr11:62462143A>C	ENST00000403550.1	-	4	758	c.335T>G	c.(334-336)cTt>cGt	p.L112R	BSCL2_ENST00000360796.5_Missense_Mutation_p.L176R|BSCL2_ENST00000421906.1_Missense_Mutation_p.L112R|BSCL2_ENST00000537604.1_5'UTR|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_Missense_Mutation_p.L112R|BSCL2_ENST00000407022.3_Missense_Mutation_p.L112R|BSCL2_ENST00000433053.1_Missense_Mutation_p.L176R|BSCL2_ENST00000405837.1_Missense_Mutation_p.L176R			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	112					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TGGCAGCTCAAGCTCTAAGGT	0.458											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													130	102	111					11																	62462143		2202	4299	6501	SO:0001583	missense	0				CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"spastic paraplegia 17 (Silver syndrome)"	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.335T>G	11.37:g.62462143A>C	ENSP00000385561:p.Leu112Arg	1061	G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	pfam_Adipose-reg_protein_Seipin	p.L176R	ENST00000403550.1	37	c.527	CCDS8031.1	11	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271746	0.80469	.	.	ENSG00000168000	ENST00000405837;ENST00000433053;ENST00000278893;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906;ENST00000448568;ENST00000531524;ENST00000524862	D;D;D;D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	5.42	5.42	0.78866	.	0.000000	0.56097	U	0.000037	D	0.97439	0.9162	M	0.88310	2.945	0.53005	D	0.999969	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.997;0.999	D	0.98175	1.0454	10	0.87932	D	0	-6.6751	13.3839	0.60785	1.0:0.0:0.0:0.0	.	112;112;176;112	Q96G97-3;Q53EN3;G3XAE4;Q96G97	.;.;.;BSCL2_HUMAN	R	176;176;112;176;112;112;112;112;43;176	ENSP00000385332:L176R;ENSP00000414002:L176R;ENSP00000278893:L112R;ENSP00000354032:L176R;ENSP00000385561:L112R;ENSP00000384080:L112R;ENSP00000413209:L112R;ENSP00000413340:L112R;ENSP00000436026:L43R;ENSP00000433888:L176R	ENSP00000278893:L112R	L	-	2	0	BSCL2	62218719	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	7.956000	0.87863	2.052000	0.61016	0.460000	0.39030	CTT	0	pfam_Adipose-reg_protein_Seipin		0.458	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	BSCL2	protein_coding	OTTHUMT00000319185.1	28	203	0	0.00	0	0	A	NM_032667	0	0		62462143	-1	no_errors	ENST00000360796	ensembl	human	known	74_37	missense	23	103	36.11	39.31	13	68	SNP	1	C	C	62462143	A	C	62462143	3	2	80	1	0	0	0	0	1	0	0	0	1527	72	3	5	893	5	BSCL2	11	62462143	Missense_Mutation	SNP	A	TCGA-XU-A936-01A-11D-A428-09	60307272	62462143	72544373	18	1014											
PLA2G16	11145	genome.wustl.edu	37	chr11	63365595	63365595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcccagtgtctgtagaaaGggcgaaaaatctcaatcagg	13	8	12	8	1	3	1	2	0	2	1	4	2	3	1	1	3	0	1	1	3	5	1			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr11:63365595G>A	ENST00000323646.5	-	2	410	c.56C>T	c.(55-57)cCt>cTt	p.P19L	PLA2G16_ENST00000394613.3_Intron|PLA2G16_ENST00000415826.1_Missense_Mutation_p.P19L	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	19					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|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 metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TCTGTAGAAAGGGCGAAAAAT	0.537																																							0											0													144	113	123					11																	63365595		2201	4298	6499	SO:0001583	missense	0			X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"adipose-specific PLA2"	613867	"HRAS-like suppressor 3"	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.56C>T	11.37:g.63365595G>A	ENSP00000320337:p.Pro19Leu		B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.P19L	ENST00000323646.5	37	c.56	CCDS8047.1	11	.	.	.	.	.	.	.	.	.	.	G	0.581	-0.836950	0.02692	.	.	ENSG00000176485	ENST00000323646;ENST00000415826	T;T	0.21361	2.01;2.01	5.97	2.07	0.26955	.	0.423693	0.26390	N	0.024651	T	0.18341	0.0440	L	0.58669	1.825	0.30596	N	0.76104	B	0.09022	0.002	B	0.12837	0.008	T	0.15009	-1.0452	10	0.19590	T	0.45	-0.1663	9.0793	0.36542	0.2974:0.0:0.7026:0.0	.	19	P53816	PAG16_HUMAN	L	19	ENSP00000320337:P19L;ENSP00000389124:P19L	ENSP00000320337:P19L	P	-	2	0	PLA2G16	63122171	0.000000	0.05858	1.000000	0.80357	0.422000	0.31414	0.502000	0.22594	0.879000	0.35944	-0.136000	0.14681	CCT	0	NULL		0.537	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G16	protein_coding	OTTHUMT00000396632.1	36	200	0	0.00	0	0	G	NM_001128203	0	0		63365595	-1	no_errors	ENST00000323646	ensembl	human	known	74_37	missense	34	180	12.82	15.42	5	33	SNP	0.63	A	A	63365595	G	A	63365595	3	1	80	1	0	0	0	0	1	0	0	0	11993	1000	35	3	444	3	PLA2G16	11	63365595	Missense_Mutation	SNP	G	TCGA-XU-A936-01A-11D-A428-09	903452	63365595	71640921	19	1015											
COX8A	1351	genome.wustl.edu	37	chr11	63742168	63742168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcatgtccgtcctgacgCcgctgctgctgcggggcttg	3	10	13	15	4	1	1	1	1	0	0	3	1	3	1	4	2	3	4	4	2	0	1			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr11:63742168C>T	ENST00000314133.3	+	1	90	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	AP000721.4_ENST00000535431.1_Missense_Mutation_p.P6S	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	6					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)										CGTCCTGACGCCGCTGCTGCT	0.642																																							0											0													27	27	27					11																	63742168		2200	4294	6494	SO:0001583	missense	0			J04823	CCDS8054.1	11q12-q13	2011-07-04	2010-04-27	2004-03-24	ENSG00000176340	ENSG00000176340	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2294	protein-coding gene	gene with protein product		123870	"cytochrome c oxidase subunit VIII", "cytochrome c oxidase subunit 8A (ubiquitous)"	COX8		2543673, 2847943	Standard	NM_004074		Approved	COX8-2, COX8L, VIII-L, COX, VIII	uc001nye.3	P10176	OTTHUMG00000167785	ENST00000314133.3:c.16C>T	11.37:g.63742168C>T	ENSP00000321260:p.Pro6Ser		P15955	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8	p.P6S	ENST00000314133.3	37	c.16	CCDS8054.1	11	.	.	.	.	.	.	.	.	.	.	C	4.151	0.026366	0.08054	.	.	ENSG00000176340	ENST00000314133	.	.	.	4.82	2.93	0.34026	.	0.376195	0.27019	N	0.021328	T	0.30230	0.0758	.	.	.	0.09310	N	1	B	0.20368	0.044	B	0.18263	0.021	T	0.18053	-1.0349	8	0.42905	T	0.14	-32.571	9.529	0.39182	0.0:0.7716:0.1434:0.085	.	6	P10176	COX8A_HUMAN	S	6	.	ENSP00000321260:P6S	P	+	1	0	COX8A	63498744	0.002000	0.14202	0.073000	0.20177	0.014000	0.08584	0.347000	0.20014	0.341000	0.23771	-0.797000	0.03246	CCG	0	NULL		0.642	COX8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX8A	protein_coding	OTTHUMT00000396273.1	43	113	0	0.00	0	0	C	NM_004074	0	0		63742168	1	no_errors	ENST00000314133	ensembl	human	known	74_37	missense	49	83	16.95	13.54	10	13	SNP	0.053	T	T	63742168	C	T	63742168	3	4	80	1	0	0	0	0	1	0	0	0	3785	739	26	3	18	3	COX8A	11	63742168	Missense_Mutation	SNP	C	TCGA-XU-A936-01A-11D-A428-09	376573	63742168	71264348	20	1016											
TMEM225	338661	genome.wustl.edu	37	chr11	123755310	123755310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaggaaaggccaaggctcGacgtcatcataatcctgacc	13	6	11	11	2	2	1	2	1	0	0	4	4	3	3	3	4	0	1	3	4	4	1			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr11:123755310G>A	ENST00000375026.2	-	2	431	c.215C>T	c.(214-216)tCg>tTg	p.S72L		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	72					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GCCAAGGCTCGACGTCATCAT	0.408																																							0											0													131	129	130					11																	123755310		2202	4299	6501	SO:0001583	missense	0			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.215C>T	11.37:g.123755310G>A	ENSP00000364166:p.Ser72Leu			Missense_Mutation	SNP	NULL	p.S72L	ENST00000375026.2	37	c.215	CCDS31697.1	11	.	.	.	.	.	.	.	.	.	.	G	7.624	0.677427	0.14841	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.59364	0.27;0.27	5.17	-4.22	0.03800	.	2.051610	0.02290	N	0.070203	T	0.32882	0.0844	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.42882	-0.9425	10	0.02654	T	1	0.631	8.9598	0.35840	0.2648:0.1427:0.5925:0.0	.	72	Q6GV28	TM225_HUMAN	L	72;22	ENSP00000364166:S72L;ENSP00000431282:S22L	ENSP00000364166:S72L	S	-	2	0	TMEM225	123260520	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.161000	0.10026	-0.615000	0.05679	-0.345000	0.07892	TCG	0	NULL		0.408	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM225	protein_coding	OTTHUMT00000387260.1	49	228	0	0.87	0	2	G	NM_001013743	0	0		123755310	-1	no_errors	ENST00000375026	ensembl	human	known	74_37	missense	42	133	36.36	30.00	24	57	SNP	0	A	A	123755310	G	A	123755310	3	1	80	1	0	0	0	0	1	0	0	0	16144	1059	37	2	474	2	TMEM225	11	123755310	Missense_Mutation	SNP	G	TCGA-XU-A936-01A-11D-A428-09	60013142	123755310	11251206	21	1017											
DRAM1	55332	genome.wustl.edu	37	chr12	102302108	102302108	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccacatacggatggtcAtctctgccgtttcttgcgca	7	12	9	13	3	3	0	1	0	2	0	4	1	3	1	2	2	4	2	2	2	1	3			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr12:102302108A>T	ENST00000258534.8	+	4	926	c.487A>T	c.(487-489)Atc>Ttc	p.I163F	DRAM1_ENST00000544152.1_Intron	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	163					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						ACGGATGGTCATCTCTGCCGT	0.458																																							0											0													184	176	178					12																	102302108		2060	4204	6264	SO:0001583	missense	0			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.487A>T	12.37:g.102302108A>T	ENSP00000258534:p.Ile163Phe		B7Z4T0|Q7L3E3|Q9NUN1	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.I163F	ENST00000258534.8	37	c.487	CCDS41823.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.87|11.87	1.768864|1.768864	0.31320|0.31320	.|.	.|.	ENSG00000136048|ENSG00000136048	ENST00000549066|ENST00000258534	.|T	.|0.42131	.|0.98	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.108413	.|0.64402	.|D	.|0.000011	T|T	0.31949|0.31949	0.0813|0.0813	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|P	.|0.35272	.|0.493	.|B	.|0.31946	.|0.138	T|T	0.11203|0.11203	-1.0597|-1.0597	5|10	.|0.34782	.|T	.|0.22	.|.	11.9419|11.9419	0.52905|0.52905	0.8549:0.1451:0.0:0.0|0.8549:0.1451:0.0:0.0	.|.	.|163	.|Q8N682	.|DRAM1_HUMAN	L|F	6|163	.|ENSP00000258534:I163F	.|ENSP00000258534:I163F	H|I	+|+	2|1	0|0	DRAM1|DRAM1	100826239|100826239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.060000|0.060000	0.15804|0.15804	4.404000|4.404000	0.59735|0.59735	2.106000|2.106000	0.64143|0.64143	0.523000|0.523000	0.50628|0.50628	CAT|ATC	0	pfam_Frag1/DRAM/Sfk1		0.458	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAM1	protein_coding	OTTHUMT00000409195.1	34	178	0	0.00	0	0	A	NM_018370	0	0		102302108	1	no_errors	ENST00000258534	ensembl	human	known	74_37	missense	35	164	16.67	17.09	7	34	SNP	1	T	T	102302108	A	T	102302108	3	4	80	1	0	0	0	0	1	0	0	0	4753	217	8	5	501	5	DRAM1	12	102302108	Missense_Mutation	SNP	A	TCGA-XU-A936-01A-11D-A428-09		102302108	31549787	22	1018											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72117205	72117205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaaggatttgagaagtatCgagcacagcttgataccaaa	16	9	9	7	1	1	2	1	2	0	1	2	5	1	3	1	1	3	3	1	1	5	4			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr14:72117205C>T	ENST00000555818.1	+	5	2320	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.R133*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R658*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R658*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	658	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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)		TGAGAAGTATCGAGCACAGCT	0.423																																							0											0													83	80	81					14																	72117205		2203	4300	6503	SO:0001587	stop_gained	0			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.1972C>T	14.37:g.72117205C>T	ENSP00000450832:p.Arg658*		J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R658*	ENST00000555818.1	37	c.1972	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.574763	0.97676	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3206	14.8208	0.70070	0.144:0.856:0.0:0.0	.	.	.	.	X	658;658;658;133;174	.	ENSP00000351352:R658X	R	+	1	2	SIPA1L1	71186958	0.998000	0.40836	0.999000	0.59377	0.981000	0.71138	3.552000	0.53705	2.804000	0.96469	0.655000	0.94253	CGA	0	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	protein_coding	OTTHUMT00000412806.1	28	206	0	0.00	0	0	C	NM_015556	0	0		72117205	1	no_errors	ENST00000555818	ensembl	human	known	74_37	nonsense	43	181	10.42	4.74	5	9	SNP	1	T	T	72117205	C	T	72117205	4	4	80	1	0	0	0	0	0	1	0	0	14329	876	31	2	1986	2	SIPA1L1	14	72117205	Nonsense_Mutation	SNP	C	TCGA-XU-A936-01A-11D-A428-09		72117205	35232335	23	1019											
ALOX12	239	genome.wustl.edu	37	chr17	6909880	6909880	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccctgagctgcaggcctgGtgtcgggagatcacggaggt	7	7	17	10	2	1	2	1	1	0	1	2	5	1	3	2	5	2	2	2	5	0	0	rs199517856		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr17:6909880G>A	ENST00000251535.6	+	11	1547	c.1494G>A	c.(1492-1494)tgG>tgA	p.W498*	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000573939.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	498	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						TGCAGGCCTGGTGTCGGGAGA	0.602																																							0											0													80	81	81					17																	6909880		2203	4300	6503	SO:0001587	stop_gained	0			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.1494G>A	17.37:g.6909880G>A	ENSP00000251535:p.Trp498*		O95569|Q6ISF8|Q9UQM4	Nonsense_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.W498*	ENST00000251535.6	37	c.1494	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.336895	0.97485	.	.	ENSG00000108839	ENST00000251535	.	.	.	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4921	12.5386	0.56156	0.0:0.0:1.0:0.0	.	.	.	.	X	498	.	ENSP00000251535:W498X	W	+	3	0	ALOX12	6850604	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.595000	0.82710	2.431000	0.82371	0.484000	0.47621	TGG	0	pfam_LipOase_C,superfamily_LipOase_C		0.602	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	protein_coding	OTTHUMT00000219922.2	37	97	0	0.00	0	0	G		0	0		6909880	1	no_errors	ENST00000251535	ensembl	human	known	74_37	nonsense	26	85	16.13	9.47	5	9	SNP	1	A	A	6909880	G	A	6909880	4	1	80	1	0	0	0	0	0	1	0	0	536	1270	44	3	1536	3	ALOX12	17	6909880	Nonsense_Mutation	SNP	G	TCGA-XU-A936-01A-11D-A428-09		6909880	74285330	24	1020											
CHD3	1107	genome.wustl.edu	37	chr17	7810746	7810746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcctctagaggatgaggtgCcaggggtgcctggagagatg	8	9	17	7	0	1	3	0	1	1	2	2	6	2	5	3	5	2	0	3	5	1	2			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr17:7810746C>T	ENST00000330494.7	+	32	5014	c.4864C>T	c.(4864-4866)Cca>Tca	p.P1622S	CHD3_ENST00000380358.4_Missense_Mutation_p.P1681S|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.P1622S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1622	Required for interaction with PCNT.				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)				GGATGAGGTGCCAGGGGTGCC	0.592																																							0											0													65	62	63					17																	7810746		2203	4300	6503	SO:0001583	missense	0			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.4864C>T	17.37:g.7810746C>T	ENSP00000332628:p.Pro1622Ser		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.P1622S	ENST00000330494.7	37	c.4864	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	6.371	0.436522	0.12104	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.89552	-2.53;-2.48;-2.47	4.56	0.361	0.16107	.	0.477764	0.17776	N	0.162426	T	0.72550	0.3474	N	0.08118	0	0.09310	N	0.999998	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	0.57242	-0.7845	10	0.14656	T	0.56	-1.5087	8.6236	0.33875	0.0:0.6714:0.0:0.3286	.	198;1622;1622;1681	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	S	1681;1622;1622	ENSP00000369716:P1681S;ENSP00000350907:P1622S;ENSP00000332628:P1622S	ENSP00000332628:P1622S	P	+	1	0	CHD3	7751471	0.000000	0.05858	0.596000	0.28811	0.980000	0.70556	0.031000	0.13710	0.260000	0.21731	0.561000	0.74099	CCA	0	NULL		0.592	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	protein_coding	OTTHUMT00000318050.1	29	128	0	0.00	0	0	C	NM_001005273	0	0		7810746	1	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	31	125	31.11	28.57	14	50	SNP	0.048	T	T	7810746	C	T	7810746	3	4	80	1	0	0	0	0	1	0	0	0	3326	739	26	3	5271	3	CHD3	17	7810746	Missense_Mutation	SNP	C	TCGA-XU-A936-01A-11D-A428-09	900866	7810746	73384464	25	1021											
SUPT6H	6830	genome.wustl.edu	37	chr17	27004811	27004811	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctacaggaatgcttttGccacaccaaccatttctctc	10	12	6	13	0	2	0	0	0	2	0	4	2	2	2	3	2	4	1	3	2	3	4			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr17:27004811G>C	ENST00000314616.6	+	8	1259	c.976G>C	c.(976-978)Gcc>Ccc	p.A326P	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A326P	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	326	Interaction with IWS1. {ECO:0000250}.|Interaction with KDM6A. {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)			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)					GAATGCTTTTGCCACACCAAC	0.468																																							0											0													159	153	155					17																	27004811		2203	4300	6503	SO:0001583	missense	0			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.976G>C	17.37:g.27004811G>C	ENSP00000319104:p.Ala326Pro		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.A326P	ENST00000314616.6	37	c.976	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820379	0.50633	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.45	5.45	0.79879	.	0.061185	0.64402	D	0.000002	T	0.32704	0.0838	N	0.04508	-0.205	0.53688	D	0.999973	B	0.33612	0.419	B	0.31101	0.124	T	0.20107	-1.0285	9	0.29301	T	0.29	-14.121	18.8847	0.92372	0.0:0.0:1.0:0.0	.	326	Q7KZ85	SPT6H_HUMAN	P	326	.	ENSP00000319104:A326P	A	+	1	0	SUPT6H	24028938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.582000	0.74049	2.556000	0.86216	0.563000	0.77884	GCC	0	pirsf_TF_Spt6		0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	protein_coding	OTTHUMT00000446422.2	31	327	0	0.00	0	0	G	NM_003170	0	0		27004811	1	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	39	244	18.75	13.73	9	39	SNP	1	C	C	27004811	G	C	27004811	3	2	80	1	0	0	0	0	1	0	0	0	15397	1319	46	5	1002	5	SUPT6H	17	27004811	Missense_Mutation	SNP	G	TCGA-XU-A936-01A-11D-A428-09	19194065	27004811	54190399	26	1022											
ZNF614	80110	genome.wustl.edu	37	chr19	52521687	52521687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggttcttctgagcagtgtCcaggagctgccactcctccc	6	10	10	15	0	2	1	0	1	2	0	5	2	5	2	4	2	3	3	4	2	0	2			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chr19:52521687C>A	ENST00000270649.6	-	3	620	c.76G>T	c.(76-78)Gac>Tac	p.D26Y	ZNF614_ENST00000356322.6_Missense_Mutation_p.D26Y	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	26	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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGAGCAGTGTCCAGGAGCTGC	0.473																																							0											0													88	84	85					19																	52521687		2203	4300	6503	SO:0001583	missense	0			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.76G>T	19.37:g.52521687C>A	ENSP00000270649:p.Asp26Tyr		Q494T8|Q8TCF4|Q9BSN8	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.D26Y	ENST00000270649.6	37	c.76	CCDS12847.1	19	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613336	0.28712	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.02863	4.13;4.13	3.23	2.06	0.26882	Krueppel-associated box (4);	.	.	.	.	T	0.13970	0.0338	M	0.91459	3.21	0.23712	N	0.997041	P;D	0.64830	0.866;0.994	P;D	0.66196	0.45;0.942	T	0.11348	-1.0591	9	0.66056	D	0.02	.	3.4658	0.07549	0.2514:0.6102:0.0:0.1383	.	26;26	Q8N883;Q9BSN8	ZN614_HUMAN;.	Y	26	ENSP00000348674:D26Y;ENSP00000270649:D26Y	ENSP00000270649:D26Y	D	-	1	0	ZNF614	57213499	0.696000	0.27757	0.860000	0.33809	0.293000	0.27360	1.188000	0.32102	1.798000	0.52647	0.591000	0.81541	GAC	0	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.473	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF614	protein_coding	OTTHUMT00000462407.1	82	130	0	0.00	0	0	C	NM_025040	0	0		52521687	-1	no_errors	ENST00000270649	ensembl	human	known	74_37	missense	81	86	10.99	17.31	10	18	SNP	0.568	A	A	52521687	C	A	52521687	3	1	80	1	0	0	0	0	1	0	0	0	18036	855	30	5	1693	5	ZNF614	19	52521687	Missense_Mutation	SNP	C	TCGA-XU-A936-01A-11D-A428-09		52521687	6607296	27	1023											
ARHGAP6	395	genome.wustl.edu	37	chrX	11157087	11157087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagcgtcccccaggcGcggactgtcctgctcgcccg	4	5	12	20	5	0	0	0	0	0	0	3	1	2	1	6	2	3	1	6	2	0	0			TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chrX:11157087G>A	ENST00000337414.4	-	13	3693	c.2821C>T	c.(2821-2823)Cgc>Tgc	p.R941C	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R738C|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R738C	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	941					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						TCCCCCAGGCGCGGACTGTCC	0.677																																							0											0													15	10	12					X																	11157087		2174	4246	6420	SO:0001583	missense	0			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.2821C>T	X.37:g.11157087G>A	ENSP00000338967:p.Arg941Cys		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R941C	ENST00000337414.4	37	c.2821	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168946	0.38315	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.21361	2.02;2.02;2.01	5.35	-0.293	0.12835	.	1.295940	0.05581	N	0.572816	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	P;P	0.47302	0.893;0.893	B;B	0.31547	0.132;0.132	T	0.31861	-0.9928	10	0.59425	D	0.04	.	8.9893	0.36014	0.0:0.0788:0.5215:0.3997	.	941;941	O43182;A8KAL3	RHG06_HUMAN;.	C	738;738;941	ENSP00000370112:R738C;ENSP00000302312:R738C;ENSP00000338967:R941C	ENSP00000302312:R738C	R	-	1	0	ARHGAP6	11067008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.820000	0.27323	-0.437000	0.07243	-0.315000	0.08773	CGC	0	NULL		0.677	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	protein_coding	OTTHUMT00000055760.2	20	24	0	0.00	0	0	G	NM_013427	0	0		11157087	-1	no_errors	ENST00000337414	ensembl	human	known	74_37	missense	26	23	10.34	23.33	3	7	SNP	0.002	A	A	11157087	G	A	11157087	3	1	80	1	0	0	0	0	1	0	0	0	887	1087	38	1	107	1	ARHGAP6	23	11157087	Missense_Mutation	SNP	G	TCGA-XU-A936-01A-11D-A428-09		11157087	144113473	28	1024											
MECP2	4204	genome.wustl.edu	37	chrX	153296828	153296828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagtcaaaatcattagggtCcagggatgtgtcgcctacct	11	10	11	9	1	2	0	2	0	0	0	4	2	3	1	3	2	1	0	3	2	5	2	rs61748402		TCGA-XU-A936-01A-11D-A428-09	TCGA-XU-A936-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0	d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081	g.chrX:153296828C>T	ENST00000303391.6	-	4	700	c.451G>A	c.(451-453)Gac>Aac	p.D151N	MECP2_ENST00000407218.1_Intron|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.D163N	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	151	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|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)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTAGGGTCCAGGGATGTG	0.522																																							0											0			GRCh37	CD012694	MECP2	D	rs61748402						77	73	75					X																	153296828		2203	4300	6503	SO:0001583	missense	0			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.451G>A	X.37:g.153296828C>T	ENSP00000301948:p.Asp151Asn		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.D151N	ENST00000303391.6	37	c.451	CCDS14741.1	X	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604446	0.66445	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964	D;D	0.96685	-4.09;-4.09	5.24	5.24	0.73138	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.85682	D	0.000000	D	0.93854	0.8034	N	0.20574	0.59	0.80722	D	1	B;B	0.31077	0.262;0.307	B;B	0.41646	0.312;0.362	D	0.92386	0.5917	10	0.30854	T	0.27	-17.2421	16.5773	0.84705	0.0:1.0:0.0:0.0	.	163;151	P51608-2;P51608	.;MECP2_HUMAN	N	151;151;163;151	ENSP00000301948:D151N;ENSP00000395535:D163N	ENSP00000301948:D151N	D	-	1	0	MECP2	152950022	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.585000	0.67497	2.172000	0.68678	0.600000	0.82982	GAC	0	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd		0.522	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	protein_coding	OTTHUMT00000061144.1	14	210	0	0.00	0	0	C	NM_004992	0	0		153296828	-1	no_errors	ENST00000303391	ensembl	human	known	74_37	missense	29	186	17.14	10.10	6	21	SNP	1	T	T	153296828	C	T	153296828	3	4	80	1	0	0	0	0	1	0	0	0	9423	855	30	3	1013	3	MECP2	23	153296828	Missense_Mutation	SNP	C	TCGA-XU-A936-01A-11D-A428-09	142139741	153296828	1973732	29	1025											
PCDHB3	56132	genome.wustl.edu	37	chr5	140482342	140482342	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtcttcgctcttcctcttTtcggtgctcctgttcgtggc	0	18	10	13	3	3	0	0	0	3	0	8	0	5	0	2	2	1	3	2	2	0	5	rs17844403	byFrequency	TCGA-XU-AAXW-01A-11D-A428-09	TCGA-XU-AAXW-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3d501d3-f929-481b-9e32-4c356b0ad241	73daa708-f746-4e8d-bd31-4b1ce49d08d7	g.chr5:140482342T>C	ENST00000231130.2	+	1	2109	c.2109T>C	c.(2107-2109)ttT>ttC	p.F703F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	703					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)			TCTTCCTCTTTTCGGTGCTCC	0.692																																							0											0													75	77	77					5																	140482342		2191	4265	6456	SO:0001819	synonymous_variant	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2109T>C	5.37:g.140482342T>C			B2R8P2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F703	ENST00000231130.2	37	c.2109	CCDS4245.1	5																																																																																			0	NULL		0.692	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	protein_coding	OTTHUMT00000251817.2	12	0	0	0.00	0	0	T	NM_018937	rs17844403	T->C		140482342	1	no_errors	ENST00000231130	ensembl	human	known	74_37	silent	13	1	27.78	0.00	5	0	SNP	0	C	C	140482342	T	C	140482342	2	2	81	1	0	0	0	0	0	0	0	1	11543	1838	64	3		3	PCDHB3	5	140482342	Silent	SNP	T	TCGA-XU-AAXW-01A-11D-A428-09		140482342	40432918	1	1026											
PCDHB14	56122	genome.wustl.edu	37	chr5	140605235	140605235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgcaggaggagcagggcgGcctcggtgggtcgctgctcg	4	7	20	10	4	0	0	0	0	0	0	3	2	0	2	1	6	3	4	1	6	0	0			TCGA-XU-AAXW-01A-11D-A428-09	TCGA-XU-AAXW-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3d501d3-f929-481b-9e32-4c356b0ad241	73daa708-f746-4e8d-bd31-4b1ce49d08d7	g.chr5:140605235G>A	ENST00000239449.4	+	1	2158	c.2158G>A	c.(2158-2160)Gcc>Acc	p.A720T	PCDHB14_ENST00000515856.2_Missense_Mutation_p.A567T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	720					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)			GAGCAGGGCGGCCTCGGTGGG	0.667																																					Ovarian(141;50 1831 27899 33809 37648)		0											0													60	76	70					5																	140605235		2203	4294	6497	SO:0001583	missense	0			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.2158G>A	5.37:g.140605235G>A	ENSP00000239449:p.Ala720Thr		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A720T	ENST00000239449.4	37	c.2158	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	14.56	2.572838	0.45798	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.14391	2.51;2.51	4.36	3.42	0.39159	.	.	.	.	.	T	0.12305	0.0299	L	0.56199	1.76	0.09310	N	1	B	0.26876	0.162	B	0.23275	0.045	T	0.13282	-1.0515	9	0.40728	T	0.16	.	4.7508	0.13059	0.15:0.0:0.6451:0.2049	.	720	Q9Y5E9	PCDBE_HUMAN	T	567;720	ENSP00000444518:A567T;ENSP00000239449:A720T	ENSP00000239449:A720T	A	+	1	0	PCDHB14	140585419	0.000000	0.05858	0.024000	0.17045	0.292000	0.27327	0.322000	0.19576	2.127000	0.65507	0.650000	0.86243	GCC	0	NULL		0.667	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	protein_coding	OTTHUMT00000251814.2	21	1	0	0.00	0	0	G	NM_018934	0	0		140605235	1	no_errors	ENST00000239449	ensembl	human	known	74_37	missense	36	1	7.69	0.00	3	0	SNP	0.002	A	A	140605235	G	A	140605235	3	1	81	1	0	0	0	0	1	0	0	0	11539	1203	42	3	2160	3	PCDHB14	5	140605235	Missense_Mutation	SNP	G	TCGA-XU-AAXW-01A-11D-A428-09	122893	140605235	40310025	2	1027											
FOXD1	2297	genome.wustl.edu	37	chr5	72744018	72744020	+	In_Frame_Del	DEL	CGC	CGC	-																															cgtcctccccggcgtacgagCgccgccgccgccgccgctgc																										TCGA-XU-AAXX-01A-11D-A428-09	TCGA-XU-AAXX-10A-01D-A42B-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1184247f-b47c-4606-86c0-3ba4842ce881	826eefc1-49d9-43d3-bad6-3557be4cb2f1	g.chr5:72744018_72744020delCGC	ENST00000499003.3	-	1	332_334	c.168_170delGCG	c.(166-171)cggcgc>cgc	p.56_57RR>R	RP11-79P5.2_ENST00000514661.1_lincRNA|FOXD1_ENST00000513595.1_5'Flank	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	56	Poly-Arg.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|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)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		GGCGTACGAGcgccgccgccgcc	0.759																																							0											0										21,1817		5,11,903						1.5	1			13	47,4167		8,31,2068	no	coding	FOXD1	NM_004472.2		13,42,2971	A1A1,A1R,RR		1.1153,1.1425,1.1236				68,5984				SO:0001651	inframe_deletion	0			U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"Forkhead boxes"	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.168_170delGCG	5.37:g.72744027_72744029delCGC	ENSP00000462795:p.Arg57del		Q12949	In_Frame_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R57in_frame_del	ENST00000499003.3	37	c.170_168		5																																																																																			0	NULL		0.759	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	FOXD1	protein_coding	OTTHUMT00000369154.2	25	5	0	0.00	0	0	CGC	NM_004472	0	0		72744020	-1	no_errors	ENST00000499003	ensembl	human	known	74_37	in_frame_del	14	10	17.65	0.00	3	0	DEL	1.000:1.000:1.000	0	-	72744020	CGC	-	72744018	7	5	82	1	0	1	0	1	0	0	0	0	5996	768	27	0	1229	0	FOXD1	5	72744018	In_Frame_Del	DEL	CGC	TCGA-XU-AAXX-01A-11D-A428-09		72744018	108171242	1	1028											
PCDHGA2	56113	genome.wustl.edu	37	chr5	140720421	140720421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacgggcgaggtgcgcaCggcgcgagccctgctggaca	7	3	17	14	6	0	0	0	0	0	0	0	3	0	1	1	4	3	3	1	4	0	0			TCGA-XU-AAXX-01A-11D-A428-09	TCGA-XU-AAXX-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1184247f-b47c-4606-86c0-3ba4842ce881	826eefc1-49d9-43d3-bad6-3557be4cb2f1	g.chr5:140720421C>T	ENST00000394576.2	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	628	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)			GAGGTGCGCACGGCGCGAGCC	0.682																																							0											0													35	43	40					5																	140720421		2197	4289	6486	SO:0001583	missense	0			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1883C>T	5.37:g.140720421C>T	ENSP00000378077:p.Thr628Met		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T628M	ENST00000394576.2	37	c.1883	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	16.30	3.084012	0.55861	.	.	ENSG00000081853	ENST00000394576	T	0.56941	0.43	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.42548	U	0.000694	T	0.80401	0.4616	H	0.94734	3.575	0.40231	D	0.977845	D;D	0.89917	0.996;1.0	P;D	0.68353	0.883;0.957	D	0.86474	0.1787	10	0.72032	D	0.01	.	18.6542	0.91445	0.0:1.0:0.0:0.0	.	628;628	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	628	ENSP00000378077:T628M	ENSP00000378077:T628M	T	+	2	0	PCDHGA2	140700605	0.991000	0.36638	0.954000	0.39281	0.111000	0.19643	2.931000	0.48932	2.589000	0.87451	0.485000	0.47835	ACG	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	protein_coding	OTTHUMT00000374738.1	49	8	0	0.00	0	0	C	NM_018915	0	0		140720421	1	no_errors	ENST00000394576	ensembl	human	known	74_37	missense	41	2	10.64	0.00	5	0	SNP	1	T	T	140720421	C	T	140720421	3	4	82	1	0	0	0	0	1	0	0	0	11554	536	19	1	1885	1	PCDHGA2	5	140720421	Missense_Mutation	SNP	C	TCGA-XU-AAXX-01A-11D-A428-09	67976403	140720421	40194839	2	1029											
ZNF208	7757	genome.wustl.edu	37	chr19	22154197	22154197	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaattttcttgtgataTctaagggttgagggccactt	9	16	11	5	0	2	3	0	3	2	0	2	3	2	3	1	2	0	2	1	2	4	8	rs560585093		TCGA-XU-AAXX-01A-11D-A428-09	TCGA-XU-AAXX-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1184247f-b47c-4606-86c0-3ba4842ce881	826eefc1-49d9-43d3-bad6-3557be4cb2f1	g.chr19:22154197T>A	ENST00000397126.4	-	4	3787	c.3639A>T	c.(3637-3639)agA>agT	p.R1213S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1213					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)				TCTTGTGATATCTAAGGGTTG	0.378													t|||	1	0.000199681	0	0	5008	,	,		21180	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0													38	41	40					19																	22154197		2105	4245	6350	SO:0001583	missense	0			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.3639A>T	19.37:g.22154197T>A	ENSP00000380315:p.Arg1213Ser			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.R1213S	ENST00000397126.4	37	c.3639	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	1.113	-0.657555	0.03480	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.39592	1.07	3.22	-6.43	0.01926	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26292	-1.0107	8	0.07175	T	0.84	.	1.5662	0.02605	0.2343:0.1042:0.1711:0.4905	.	1085	O43345	ZN208_HUMAN	S	1213;1085	ENSP00000380315:R1213S	ENSP00000380315:R1213S	R	-	3	2	ZNF208	21946037	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.047000	0.00306	-1.840000	0.01184	-1.063000	0.02288	AGA	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	protein_coding	OTTHUMT00000464302.1	38	3	2.56	0.00	1	0	T	NM_007153	rs560585093	T->A		22154197	-1	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	44	6	8.33	0.00	4	0	SNP	0	A	A	22154197	T	A	22154197	3	1	82	1	0	0	0	0	1	0	0	0	17763	1432	50	5	207	5	ZNF208	19	22154197	Missense_Mutation	SNP	T	TCGA-XU-AAXX-01A-11D-A428-09		22154197	36974786	3	1030											
NUDCD2	134492	genome.wustl.edu	37	chr5	162884088	162884089	+	Splice_Site	INS	-	-	A																															gaaccatttttctgtcctctINSaaaaaaaaaacacacacaca																										TCGA-XU-AAXY-01A-11D-A428-09	TCGA-XU-AAXY-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2b99c573-4c13-45b8-bfc6-eac1400e57bd	a8e97066-ec44-4ffa-9346-6dd78d038388	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											0																																										SO:0001630	splice_region_variant	0			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			B2R4V0	Splice_Site	INS	0	e3-2	ENST00000302764.4	37	c.239-3_239-2	CCDS4361.1	5																																																																																			0	0		0.366	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD2	protein_coding	OTTHUMT00000252747.3	37	115	0	0.86	0	1	0	NM_145266	0	0	Intron	162884089	-1	no_errors	ENST00000302764	ensembl	human	known	74_37	splice_site_ins	18	99	14.29	4.81	3	5	INS	0.984:0.001	A	A	162884089	-	A	162884088	8	5	83	1	0	1	1	0	0	0	1	0	10723	1536	53	0	244	0	NUDCD2	5	162884088	Splice_Site	INS	-	TCGA-XU-AAXY-01A-11D-A428-09		162884088	18031172	1	1031											
SMAP2	64744	genome.wustl.edu	37	chr1	40872437	40872437	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcttggaacattggtGtgttcatctgcattcgatgt	6	15	12	8	1	3	0	1	0	2	0	4	2	3	1	1	3	2	2	1	3	1	4			TCGA-XU-AAXZ-01A-11D-A428-09	TCGA-XU-AAXZ-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4555a0e7-efe1-45de-b2a4-3e5b1930b4b9	c3b2e9a1-8d1e-4baf-b47b-79a4df0f3abc	g.chr1:40872437G>T	ENST00000539317.1	+	0	86					NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2						regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|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;1.04e-17)			GAACATTGGTGTGTTCATCTG	0.453																																							0											0													102	99	100					1																	40872437		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"ADP-ribosylation factor GTPase activating proteins"	25082	protein-coding gene	gene with protein product			"stromal membrane-associated protein 1-like", "stromal membrane-associated GTPase-activating protein 2"	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.-108G>T	1.37:g.40872437G>T			B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.V45L	ENST00000539317.1	37	c.133	CCDS55593.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046180	0.75846	.	.	ENSG00000084070	ENST00000435168;ENST00000372718;ENST00000372708	T;T	0.51817	0.69;0.69	6.06	6.06	0.98353	.	0.049956	0.85682	D	0.000000	T	0.58192	0.2105	M	0.79926	2.475	0.80722	D	1	P;P	0.46706	0.851;0.883	B;B	0.44224	0.444;0.43	T	0.63897	-0.6533	10	0.62326	D	0.03	-3.9597	18.1147	0.89549	0.0:0.0:1.0:0.0	.	15;45	Q8WU79-2;Q8WU79	.;SMAP2_HUMAN	L	45;45;15	ENSP00000361803:V45L;ENSP00000361793:V15L	ENSP00000361793:V15L	V	+	1	0	SMAP2	40645024	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.518000	0.60510	2.882000	0.98803	0.655000	0.94253	GTG	0	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.453	SMAP2-201	KNOWN	basic|CCDS	protein_coding	SMAP2	protein_coding		59	201	0	0.00	0	0	G	NM_022733	0	0		40872437	1	no_errors	ENST00000372718	ensembl	human	known	74_37	missense	39	146	13.04	8.07	6	13	SNP	0.998	T	T	40872437	G	T	40872437	1	4	84	0	1	0	0	0	0	0	0	0	14767	1377	48	5		5	SMAP2	1	40872437	5'UTR	SNP	G	TCGA-XU-AAXZ-01A-11D-A428-09		40872437	208378184	1	1032											
OCIAD2	132299	genome.wustl.edu	37	chr4	48906563	48906563	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccacgagcagacgctgaagCcatgatgactttgtgcttgc	9	10	11	11	2	0	4	0	3	0	1	1	5	1	4	2	0	4	3	2	0	1	2			TCGA-XU-AAXZ-01A-11D-A428-09	TCGA-XU-AAXZ-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4555a0e7-efe1-45de-b2a4-3e5b1930b4b9	c3b2e9a1-8d1e-4baf-b47b-79a4df0f3abc	g.chr4:48906563C>G	ENST00000508632.1	-	2	236	c.4G>C	c.(4-6)Gct>Cct	p.A2P	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Missense_Mutation_p.A2P	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	2	OCIA.					endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						GACGCTGAAGCCATGATGACT	0.428																																							0											0													196	165	175					4																	48906563		2203	4300	6503	SO:0001583	missense	0			BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.4G>C	4.37:g.48906563C>G	ENSP00000423014:p.Ala2Pro		B4DPE7|Q8N544	Missense_Mutation	SNP	pfam_OCIA	p.A2P	ENST00000508632.1	37	c.4	CCDS33981.1	4	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723193	0.30503	.	.	ENSG00000145247	ENST00000508632;ENST00000273860;ENST00000381464	T;T;T	0.54675	0.6;0.56;0.57	4.19	2.46	0.29980	.	0.392254	0.22859	N	0.054778	T	0.43322	0.1242	L	0.36672	1.1	0.27441	N	0.953706	P;P	0.45176	0.852;0.769	P;B	0.46253	0.509;0.216	T	0.24012	-1.0172	9	.	.	.	-5.1375	6.7239	0.23345	0.0:0.7822:0.0:0.2178	.	2;2	Q56VL3-2;Q56VL3	.;OCAD2_HUMAN	P	2	ENSP00000423014:A2P;ENSP00000273860:A2P;ENSP00000370873:A2P	.	A	-	1	0	OCIAD2	48601320	1.000000	0.71417	0.844000	0.33320	0.002000	0.02628	1.172000	0.31908	0.525000	0.28522	-0.150000	0.13652	GCT	0	NULL		0.428	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OCIAD2	protein_coding	OTTHUMT00000361984.5	82	249	0	0.00	0	0	C	NM_152398	0	0		48906563	-1	no_errors	ENST00000508632	ensembl	human	known	74_37	missense	46	181	11.54	11.27	6	23	SNP	0.975	G	G	48906563	C	G	48906563	3	3	84	1	0	0	0	0	1	0	0	0	10818	739	26	5	484	5	OCIAD2	4	48906563	Missense_Mutation	SNP	C	TCGA-XU-AAXZ-01A-11D-A428-09		48906563	142247713	2	1033											
RAI14	26064	genome.wustl.edu	37	chr5	34811968	34811968	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttgtagattctcttggAtacaatgccttacattattc	11	16	5	9	0	1	1	0	0	1	1	3	2	1	2	2	1	4	1	2	1	6	8			TCGA-XU-AAXZ-01A-11D-A428-09	TCGA-XU-AAXZ-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4555a0e7-efe1-45de-b2a4-3e5b1930b4b9	c3b2e9a1-8d1e-4baf-b47b-79a4df0f3abc	g.chr5:34811968A>G	ENST00000265109.3	+	9	941	c.654A>G	c.(652-654)ggA>ggG	p.G218G	RAI14_ENST00000428746.2_Silent_p.G218G|RAI14_ENST00000515799.1_Silent_p.G221G|RAI14_ENST00000503673.1_Silent_p.G218G|RAI14_ENST00000506376.1_Silent_p.G210G|RAI14_ENST00000397449.1_Silent_p.G211G|RAI14_ENST00000512629.1_Silent_p.G218G	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	218						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ATTCTCTTGGATACAATGCCT	0.393																																							0											0													86	89	88					5																	34811968		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.654A>G	5.37:g.34811968A>G			E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G221	ENST00000265109.3	37	c.663	CCDS34142.1	5																																																																																			0	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.393	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	protein_coding	OTTHUMT00000366786.1	73	306	0	0.00	0	0	A	NM_015577	0	0		34811968	1	no_errors	ENST00000515799	ensembl	human	known	74_37	silent	56	292	9.68	5.50	6	17	SNP	1	G	G	34811968	A	G	34811968	2	3	84	1	0	0	0	0	0	0	0	1	13008	320	12	3		3	RAI14	5	34811968	Silent	SNP	A	TCGA-XU-AAXZ-01A-11D-A428-09		34811968	146103292	3	1034											
MAP3K1	4214	genome.wustl.edu	37	chr5	56179432	56179432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggctgaaaggtcaacagAtaggccttggagcattttct	12	11	11	7	0	2	2	1	1	1	1	2	3	2	3	1	4	2	2	1	4	4	4			TCGA-XU-AAXZ-01A-11D-A428-09	TCGA-XU-AAXZ-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4555a0e7-efe1-45de-b2a4-3e5b1930b4b9	c3b2e9a1-8d1e-4baf-b47b-79a4df0f3abc	g.chr5:56179432A>G	ENST00000399503.3	+	15	3745	c.3745A>G	c.(3745-3747)Ata>Gta	p.I1249V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGGTCAACAGATAGGCCTTGG	0.393																																							0											0													179	171	174					5																	56179432		1870	4100	5970	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3745A>G	5.37:g.56179432A>G	ENSP00000382423:p.Ile1249Val			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_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.I1249V	ENST00000399503.3	37	c.3745	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696743	0.88830	.	.	ENSG00000095015	ENST00000399503	T	0.32272	1.46	5.76	5.76	0.90799	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	0.50292	0.1607	M	0.62016	1.91	0.58432	D	0.999998	D	0.53885	0.963	P	0.58873	0.847	T	0.51092	-0.8749	10	0.72032	D	0.01	.	16.3786	0.83431	1.0:0.0:0.0:0.0	.	1249	Q13233	M3K1_HUMAN	V	1249	ENSP00000382423:I1249V	ENSP00000382423:I1249V	I	+	1	0	MAP3K1	56215189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.258000	0.72487	2.323000	0.78572	0.528000	0.53228	ATA	0	pfam_Prot_kinase_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		0.393	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	protein_coding	OTTHUMT00000132309.2	137	291	0	0.00	0	0	A	XM_042066	0	0		56179432	1	no_errors	ENST00000399503	ensembl	human	novel	74_37	missense	81	272	8.99	4.21	8	12	SNP	1	G	G	56179432	A	G	56179432	3	3	84	1	0	0	0	0	1	0	0	0	9243	333	12	3	3803	3	MAP3K1	5	56179432	Missense_Mutation	SNP	A	TCGA-XU-AAXZ-01A-11D-A428-09	21367464	56179432	124735828	4	1035											
CCDC67	159989	genome.wustl.edu	37	chr11	93097356	93097357	+	Frame_Shift_Ins	INS	-	-	G																															aacaaataactttgaaaaacINStgagattacatcagatgaaa																										TCGA-XU-AAXZ-01A-11D-A428-09	TCGA-XU-AAXZ-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4555a0e7-efe1-45de-b2a4-3e5b1930b4b9	c3b2e9a1-8d1e-4baf-b47b-79a4df0f3abc	g.chr11:93097356_93097357insG	ENST00000298050.3	+	5	428_429	c.328_329insG	c.(328-330)ctgfs	p.L110fs		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	110					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)				CTTTGAAAAACTGAGATTACAT	0.287																																							0											0																																										SO:0001589	frameshift_variant	0			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		Exception_encountered	11.37:g.93097356_93097357insG	ENSP00000298050:p.Leu110fs		Q8NEF1|Q96LL7	Frame_Shift_Ins	INS	superfamily_MHC_II-assoc_invariant_trimer	p.L110fs	ENST00000298050.3	37	c.328_329	CCDS44707.1	11																																																																																			0	superfamily_MHC_II-assoc_invariant_trimer		0.287	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	protein_coding		115	211	0	0.00	0	0	0	NM_181645	0	0		93097357	1	no_errors	ENST00000298050	ensembl	human	known	74_37	frame_shift_ins	89	249	11	5.32	11	14	INS	0.997:1.000	G	G	93097357	-	G	93097356	7	5	84	1	0	1	1	0	0	0	0	0	2839	564	20	0	342	0	CCDC67	11	93097356	Frame_Shift_Ins	INS	-	TCGA-XU-AAXZ-01A-11D-A428-09		93097356	41909160	5	1036											
MAPT	4137	genome.wustl.edu	37	chr17	44096082	44096082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatcacccacgtccctggcGgaggaaataaaaaggtaaag	16	6	10	9	2	1	0	1	0	0	0	2	2	2	2	2	4	0	1	2	4	7	3			TCGA-XU-AAXZ-01A-11D-A428-09	TCGA-XU-AAXZ-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	4555a0e7-efe1-45de-b2a4-3e5b1930b4b9	c3b2e9a1-8d1e-4baf-b47b-79a4df0f3abc	g.chr17:44096082G>A	ENST00000571987.1	+	12	2047	c.2047G>A	c.(2047-2049)Gga>Aga	p.G683R	MAPT_ENST00000262410.5_Missense_Mutation_p.G683R|MAPT_ENST00000420682.2_Missense_Mutation_p.G337R|MAPT_ENST00000340799.5_Missense_Mutation_p.G337R|MAPT_ENST00000415613.2_Missense_Mutation_p.G701R|MAPT_ENST00000347967.5_Missense_Mutation_p.G241R|MAPT_ENST00000334239.8_Missense_Mutation_p.G277R|MAPT_ENST00000535772.1_Missense_Mutation_p.G335R|MAPT_ENST00000351559.5_Missense_Mutation_p.G366R|MAPT_ENST00000431008.3_Missense_Mutation_p.G335R|MAPT_ENST00000344290.5_Missense_Mutation_p.G701R|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000574436.1_Missense_Mutation_p.G366R|MAPT_ENST00000446361.3_Missense_Mutation_p.G308R|MAPT_ENST00000576518.1_Missense_Mutation_p.G266R			P10636	TAU_HUMAN	microtubule-associated protein tau	683					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)	p.G683R(1)		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)	CGTCCCTGGCGGAGGAAATAA	0.512																																							0											1	Substitution - Missense(1)	lung(1)											105	108	107					17																	44096082		2203	4300	6503	SO:0001583	missense	0			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.2047G>A	17.37:g.44096082G>A	ENSP00000458742:p.Gly683Arg		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	pfam_MAP_tubulin-bd_rpt,prints_Tau	p.G701R	ENST00000571987.1	37	c.2101	CCDS11501.1	17	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397285	0.83120	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	D;D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	4.87	4.87	0.63330	.	0.220262	0.23887	N	0.043590	D	0.99904	0.9954	M	0.91354	3.2	0.80722	D	1	D;D;D;P;D;D;D	0.89917	0.972;0.962;0.985;0.949;0.998;1.0;0.977	P;P;P;P;D;D;P	0.97110	0.87;0.719;0.835;0.524;0.919;1.0;0.798	D	0.96111	0.9077	10	0.87932	D	0	-10.1615	16.9481	0.86235	0.0:0.0:1.0:0.0	.	701;337;284;277;308;366;683	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	R	701;683;366;337;335;241;284;277;308;337;701;189	ENSP00000340820:G701R;ENSP00000262410:G683R;ENSP00000303214:G366R;ENSP00000340438:G337R;ENSP00000443028:G335R;ENSP00000302706:G241R;ENSP00000408975:G277R;ENSP00000413056:G337R;ENSP00000410838:G701R	ENSP00000262410:G683R	G	+	1	0	MAPT	41451929	1.000000	0.71417	0.991000	0.47740	0.798000	0.45092	9.869000	0.99810	2.408000	0.81797	0.561000	0.74099	GGA	0	pfam_MAP_tubulin-bd_rpt		0.512	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	protein_coding	OTTHUMT00000440133.1	90	292	0	0.00	0	0	G	NM_016835	0	0		44096082	1	no_errors	ENST00000344290	ensembl	human	known	74_37	missense	85	207	8.6	5.91	8	13	SNP	1	A	A	44096082	G	A	44096082	3	1	84	1	0	0	0	0	1	0	0	0	9297	1117	39	2	2151	2	MAPT	17	44096082	Missense_Mutation	SNP	G	TCGA-XU-AAXZ-01A-11D-A428-09		44096082	37099128	6	1037											
RFX1	5989	genome.wustl.edu	37	chr19	14074690	14074690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacgttggcgaagtccaCgcggttgaggtcgctcagca	7	8	14	12	5	1	1	1	1	0	0	3	2	2	1	1	3	2	5	1	3	1	2			TCGA-XU-AAXZ-01A-11D-A428-09	TCGA-XU-AAXZ-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4555a0e7-efe1-45de-b2a4-3e5b1930b4b9	c3b2e9a1-8d1e-4baf-b47b-79a4df0f3abc	g.chr19:14074690C>T	ENST00000254325.4	-	17	2575	c.2341G>A	c.(2341-2343)Gtg>Atg	p.V781M		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	781	Necessary for dimerization.				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)			GCGAAGTCCACGCGGTTGAGG	0.716																																							0											0													32	17	22					19																	14074690		2106	4132	6238	SO:0001583	missense	0				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.2341G>A	19.37:g.14074690C>T	ENSP00000254325:p.Val781Met			Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.V781M	ENST00000254325.4	37	c.2341	CCDS12301.1	19	.	.	.	.	.	.	.	.	.	.	c	35	5.505959	0.96371	.	.	ENSG00000132005	ENST00000254325	T	0.48836	0.8	4.86	4.86	0.63082	.	0.121727	0.53938	D	0.000044	T	0.73289	0.3568	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.79918	-0.1600	10	0.72032	D	0.01	-22.8637	16.9582	0.86265	0.0:1.0:0.0:0.0	.	781	P22670	RFX1_HUMAN	M	781	ENSP00000254325:V781M	ENSP00000254325:V781M	V	-	1	0	RFX1	13935690	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.599000	0.82757	2.548000	0.85928	0.543000	0.68304	GTG	0	NULL		0.716	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	protein_coding	OTTHUMT00000458510.1	21	14	0	0.00	0	0	C	NM_002918	0	0		14074690	-1	no_errors	ENST00000254325	ensembl	human	known	74_37	missense	20	6	13.04	0.00	3	0	SNP	1	T	T	14074690	C	T	14074690	3	4	84	1	0	0	0	0	1	0	0	0	13262	536	19	1	618	1	RFX1	19	14074690	Missense_Mutation	SNP	C	TCGA-XU-AAXZ-01A-11D-A428-09		14074690	45054293	7	1038											
KRTAP10-1	386677	genome.wustl.edu	37	chr21	45959695	45959695	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaatccttagagcaGgtgggcaggcagcacacagg	13	4	16	8	0	0	2	0	0	0	2	1	4	1	3	1	5	2	4	1	5	3	1			TCGA-XU-AAXZ-01A-11D-A428-09	TCGA-XU-AAXZ-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4555a0e7-efe1-45de-b2a4-3e5b1930b4b9	c3b2e9a1-8d1e-4baf-b47b-79a4df0f3abc	g.chr21:45959695G>T	ENST00000400375.1	-	1	383	c.339C>A	c.(337-339)acC>acA	p.T113T	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	113	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						CCTTAGAgcaggtgggcaggc	0.632																																							0											0													56	61	59					21																	45959695		2202	4294	6496	SO:0001819	synonymous_variant	0			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.339C>A	21.37:g.45959695G>T			Q0VAR0|Q0VAR1	Silent	SNP	NULL	p.T113	ENST00000400375.1	37	c.339	CCDS42954.1	21																																																																																			0	NULL		0.632	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-1	protein_coding	OTTHUMT00000128030.1	54	5	1.82	0.00	1	0	G		0	0		45959695	-1	no_errors	ENST00000400375	ensembl	human	known	74_37	silent	37	6	9.76	0.00	4	0	SNP	0.578	T	T	45959695	G	T	45959695	2	4	84	1	0	0	0	0	0	0	0	1	8505	987	35	5		5	KRTAP10-1	21	45959695	Silent	SNP	G	TCGA-XU-AAXZ-01A-11D-A428-09		45959695	2170200	8	1039											
NRXN1	9378	genome.wustl.edu	37	chr2	50850457	50850457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcgctgttacctgacGcagattcctggtgactttca	7	12	9	13	2	1	3	1	2	0	1	2	3	2	3	3	1	2	3	3	1	1	3			TCGA-XU-AAY0-01A-11D-A428-09	TCGA-XU-AAY0-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1bd31f65-a32e-4d78-ba3f-4b9788ceb252	4f346292-ef69-4ac9-b212-0c01f61f4039	g.chr2:50850457G>A	ENST00000406316.2	-	6	2605	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	NRXN1_ENST00000402717.3_Missense_Mutation_p.R377C|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.R377C|NRXN1_ENST00000401669.2_Missense_Mutation_p.R377C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R377C|NRXN1_ENST00000404971.1_Missense_Mutation_p.R410C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	377	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)			GTTACCTGACGCAGATTCCTG	0.443																																							0											0													57	57	57					2																	50850457		1998	4184	6182	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1129C>T	2.37:g.50850457G>A	ENSP00000384311:p.Arg377Cys		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.R377C	ENST00000406316.2	37	c.1129	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978588	0.74360	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	M	0.82433	2.59	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.989;0.998;0.999	D	0.90323	0.4346	10	0.87932	D	0	.	19.9037	0.96999	0.0:0.0:1.0:0.0	.	410;377;377	Q9ULB1-3;F8WB18;A7E294	.;.;.	C	410;377;377;377;411;377;377	ENSP00000385142:R410C;ENSP00000384311:R377C;ENSP00000434015:R377C;ENSP00000385017:R377C;ENSP00000385434:R377C;ENSP00000385681:R377C	ENSP00000385017:R377C	R	-	1	0	NRXN1	50703961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.928000	0.87587	2.708000	0.92522	0.557000	0.71058	CGT	0	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.443	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	57	221	0	0.00	0	0	G		0	0		50850457	-1	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	37	196	19.57	13.27	9	30	SNP	1	A	A	50850457	G	A	50850457	3	1	85	1	0	0	0	0	1	0	0	0	10665	1087	38	1	3750	1	NRXN1	2	50850457	Missense_Mutation	SNP	G	TCGA-XU-AAY0-01A-11D-A428-09		50850457	192348916	1	1040											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-XU-AAY0-01A-11D-A428-09	TCGA-XU-AAY0-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1bd31f65-a32e-4d78-ba3f-4b9788ceb252	4f346292-ef69-4ac9-b212-0c01f61f4039	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	383	113	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	213	107	10.46	14.40	25	18	SNP	1	A	A	74146970	T	A	74146970	3	1	85	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-XU-AAY0-01A-11D-A428-09		74146970	84991693	2	1041											
NDRG1	10397	genome.wustl.edu	37	chr8	134271450	134271450	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcatttcagccagcTgatccatggaggggtacatg	11	8	13	9	0	1	1	1	1	0	0	2	3	2	3	2	4	4	3	2	4	2	2			TCGA-XU-AAY0-01A-11D-A428-09	TCGA-XU-AAY0-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1bd31f65-a32e-4d78-ba3f-4b9788ceb252	4f346292-ef69-4ac9-b212-0c01f61f4039	g.chr8:134271450T>A	ENST00000414097.2	-	6	1217	c.350A>T	c.(349-351)cAg>cTg	p.Q117L	NDRG1_ENST00000522476.1_Missense_Mutation_p.Q51L|NDRG1_ENST00000323851.7_Missense_Mutation_p.Q117L|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000537882.1_Missense_Mutation_p.Q36L|NDRG1_ENST00000354944.5_Intron|NDRG1_ENST00000518176.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	117					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)			TTCAGCCAGCTGATCCATGGA	0.527			T	ERG	prostate																																		0		Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	0													128	118	121					8																	134271450		2203	4300	6503	SO:0001583	missense	0			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.350A>T	8.37:g.134271450T>A	ENSP00000404854:p.Gln117Leu		B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	pfam_Ndr	p.Q117L	ENST00000414097.2	37	c.350	CCDS34945.1	8	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166391	0.78339	.	.	ENSG00000104419	ENST00000323851;ENST00000414097;ENST00000537882;ENST00000522476;ENST00000520230;ENST00000518480;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544	T;T;T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	L	0.51914	1.62	0.80722	D	1	P	0.36162	0.54	B	0.28139	0.086	T	0.06991	-1.0796	10	0.49607	T	0.09	-27.7466	14.131	0.65253	0.0:0.0:0.0:1.0	.	117	Q92597	NDRG1_HUMAN	L	117;117;36;51;134;51;117;117;117;128;117	ENSP00000319977:Q117L;ENSP00000404854:Q117L;ENSP00000437443:Q36L;ENSP00000427894:Q51L;ENSP00000428345:Q134L;ENSP00000428802:Q51L;ENSP00000429994:Q117L;ENSP00000429272:Q117L;ENSP00000428384:Q117L;ENSP00000429840:Q128L;ENSP00000429524:Q117L	ENSP00000319977:Q117L	Q	-	2	0	NDRG1	134340632	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.732000	0.84908	2.009000	0.58944	0.459000	0.35465	CAG	0	pfam_Ndr		0.527	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDRG1	protein_coding	OTTHUMT00000378805.1	33	139	0	0.00	0	0	T		0	0		134271450	-1	no_errors	ENST00000323851	ensembl	human	known	74_37	missense	32	169	11.11	6.11	4	11	SNP	1	A	A	134271450	T	A	134271450	3	1	85	1	0	0	0	0	1	0	0	0	10251	1580	55	5	878	5	NDRG1	8	134271450	Missense_Mutation	SNP	T	TCGA-XU-AAY0-01A-11D-A428-09		134271450	12092572	3	1042											
KIAA1462	57608	genome.wustl.edu	37	chr10	30317392	30317392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtccgagtcccagttTggaactttttgagcttggtt	5	17	11	8	1	1	1	0	1	1	0	3	3	3	2	2	3	2	3	2	3	1	6			TCGA-XU-AAY0-01A-11D-A428-09	TCGA-XU-AAY0-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1bd31f65-a32e-4d78-ba3f-4b9788ceb252	4f346292-ef69-4ac9-b212-0c01f61f4039	g.chr10:30317392T>C	ENST00000375377.1	-	3	1786	c.1685A>G	c.(1684-1686)cAa>cGa	p.Q562R		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	562					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						AGTCCCAGTTTGGAACTTTTT	0.463																																							0											0													99	100	100					10																	30317392		1873	4111	5984	SO:0001583	missense	0			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.1685A>G	10.37:g.30317392T>C	ENSP00000364526:p.Gln562Arg		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.Q562R	ENST00000375377.1	37	c.1685	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301727	0.40694	.	.	ENSG00000165757	ENST00000375377	T	0.11821	2.74	5.62	5.62	0.85841	.	0.161766	0.51477	D	0.000081	T	0.12008	0.0292	N	0.22421	0.69	0.30408	N	0.779399	B	0.19817	0.039	B	0.18871	0.023	T	0.05500	-1.0881	10	0.72032	D	0.01	-21.2059	15.806	0.78513	0.0:0.0:0.0:1.0	.	562	Q9P266	K1462_HUMAN	R	562	ENSP00000364526:Q562R	ENSP00000364526:Q562R	Q	-	2	0	KIAA1462	30357398	1.000000	0.71417	0.956000	0.39512	0.166000	0.22503	4.534000	0.60622	2.142000	0.66516	0.459000	0.35465	CAA	0	NULL		0.463	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	protein_coding	OTTHUMT00000047409.1	41	245	0	0.00	0	0	T	NM_020848	0	0		30317392	-1	no_errors	ENST00000375377	ensembl	human	known	74_37	missense	27	258	15.62	9.79	5	28	SNP	1	C	C	30317392	T	C	30317392	3	2	85	1	0	0	0	0	1	0	0	0	8234	1812	63	3	2402	3	KIAA1462	10	30317392	Missense_Mutation	SNP	T	TCGA-XU-AAY0-01A-11D-A428-09		30317392	105217355	4	1043											
HTATSF1	27336	genome.wustl.edu	37	chrX	135582344	135582344	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgttgaagaagacagaaAtacaaatgtatacgtgtctg	16	11	9	5	1	2	4	1	1	1	3	2	4	2	4	0	0	2	2	0	0	7	4			TCGA-XU-AAY0-01A-11D-A428-09	TCGA-XU-AAY0-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1bd31f65-a32e-4d78-ba3f-4b9788ceb252	4f346292-ef69-4ac9-b212-0c01f61f4039	g.chrX:135582344A>G	ENST00000218364.4	+	3	569	c.395A>G	c.(394-396)aAt>aGt	p.N132S	HTATSF1_ENST00000535601.1_Missense_Mutation_p.N132S	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	132					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)					GAAGACAGAAATACAAATGTA	0.269																																							0											0													80	90	87					X																	135582344		2201	4292	6493	SO:0001583	missense	0			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.395A>G	X.37:g.135582344A>G	ENSP00000218364:p.Asn132Ser		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N132S	ENST00000218364.4	37	c.395	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155525	0.78114	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T;T;T	0.33438	3.49;1.41;1.41;3.49	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);	0.044247	0.85682	D	0.000000	T	0.58779	0.2146	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64694	-0.6347	10	0.87932	D	0	-22.8836	15.0205	0.71627	1.0:0.0:0.0:0.0	.	132	O43719	HTSF1_HUMAN	S	132	ENSP00000442699:N132S;ENSP00000411381:N132S;ENSP00000412420:N132S;ENSP00000218364:N132S	ENSP00000218364:N132S	N	+	2	0	HTATSF1	135410010	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.628000	0.67791	1.930000	0.55929	0.412000	0.27726	AAT	0	NULL		0.269	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	protein_coding	OTTHUMT00000058497.1	340	205	0	0.00	0	0	A	NM_014500	0	0		135582344	1	no_errors	ENST00000218364	ensembl	human	known	74_37	missense	199	258	7.87	13.09	17	39	SNP	1	G	G	135582344	A	G	135582344	3	3	85	1	0	0	0	0	1	0	0	0	7433	101	4	3	405	3	HTATSF1	23	135582344	Missense_Mutation	SNP	A	TCGA-XU-AAY0-01A-11D-A428-09		135582344	19688216	5	1044											
RBM15	64783	genome.wustl.edu	37	chr1	110884270	110884270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgaaaaaagaagaccGctctgatgggagtgcaccta	13	7	10	11	1	2	4	0	2	2	2	2	5	2	5	3	1	1	2	3	1	5	1			TCGA-XU-AAY1-01A-11D-A428-09	TCGA-XU-AAY1-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	d8756555-5744-4fc6-958b-105e23571d7b	186568fa-cf96-4af1-a647-a60adfc449aa	g.chr1:110884270G>A	ENST00000369784.3	+	1	3143	c.2243G>A	c.(2242-2244)cGc>cAc	p.R748H	RBM15_ENST00000487146.2_Missense_Mutation_p.R748H|RBM15_ENST00000602849.1_Missense_Mutation_p.R748H|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	748					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)		AAAGAAGACCGCTCTGATGGG	0.557			T	MKL1	acute megakaryocytic leukemia																																		0		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													74	76	75					1																	110884270		2203	4300	6503	SO:0001583	missense	0			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.2243G>A	1.37:g.110884270G>A	ENSP00000358799:p.Arg748His		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.R748H	ENST00000369784.3	37	c.2243	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	G	7.048	0.563981	0.13498	.	.	ENSG00000162775	ENST00000369784	T	0.20200	2.09	5.25	4.27	0.50696	.	0.000000	0.40554	N	0.001065	T	0.03305	0.0096	N	0.14661	0.345	0.20074	N	0.999938	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	10	0.18710	T	0.47	-8.0655	5.5054	0.16850	0.1608:0.0:0.6714:0.1677	.	748;748	Q96T37-3;Q96T37	.;RBM15_HUMAN	H	748	ENSP00000358799:R748H	ENSP00000358799:R748H	R	+	2	0	RBM15	110685793	0.955000	0.32602	0.950000	0.38849	0.936000	0.57629	2.671000	0.46842	2.461000	0.83175	0.655000	0.94253	CGC	0	NULL		0.557	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	protein_coding	OTTHUMT00000031114.2	19	171	0	0.00	0	0	G	NM_022768	0	0		110884270	1	no_errors	ENST00000369784	ensembl	human	known	74_37	missense	9	105	25	4.50	3	5	SNP	0.151	A	A	110884270	G	A	110884270	3	1	86	1	0	0	0	0	1	0	0	0	13116	1087	38	1	2245	1	RBM15	1	110884270	Missense_Mutation	SNP	G	TCGA-XU-AAY1-01A-11D-A428-09		110884270	138366351	1	1045											
OTUD3	23252	genome.wustl.edu	37	chr1	20216922	20216923	+	Frame_Shift_Ins	INS	-	-	A																															gatcaattggagggacactcINSacgaaatcatctcaagcaca																										TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr1:20216922_20216923insA	ENST00000375120.3	+	2	267_268	c.266_267insA	c.(265-270)tcacgafs	p.R90fs		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	90	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGACACTCACGAAATCATC	0.416																																							0											0																																										SO:0001589	frameshift_variant	0			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.267dupA	1.37:g.20216923_20216923dupA	ENSP00000364261:p.Arg90fs		O75047	Frame_Shift_Ins	INS	pfam_OTU,pfscan_OTU	p.R90fs	ENST00000375120.3	37	c.266_267	CCDS41279.1	1																																																																																			0	pfam_OTU,pfscan_OTU		0.416	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	protein_coding	OTTHUMT00000007655.1	100	242	0	0.00	0	0	0		0	0		20216923	1	no_errors	ENST00000375120	ensembl	human	known	74_37	frame_shift_ins	70	169	33.96	28.69	36	68	INS	1.000:0.968	A	A	20216923	-	A	20216922	7	5	87	1	0	1	1	0	0	0	0	0	11313	838	29	0	272	0	OTUD3	1	20216922	Frame_Shift_Ins	INS	-	TCGA-YT-A95D-01A-11D-A428-09		20216922	229033699	1	1046											
NEB	4703	genome.wustl.edu	37	chr2	152497131	152497131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcatcacgtatagctcggGcaccaatgtggtggccgagc	8	8	14	11	3	2	0	2	0	0	0	3	1	2	0	2	4	2	3	2	4	3	2			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr2:152497131G>A	ENST00000172853.10	-	61	8570	c.8423C>T	c.(8422-8424)gCc>gTc	p.A2808V	NEB_ENST00000604864.1_Missense_Mutation_p.A2808V|NEB_ENST00000397345.3_Missense_Mutation_p.A2808V|NEB_ENST00000603639.1_Missense_Mutation_p.A2808V|NEB_ENST00000409198.1_Missense_Mutation_p.A2808V|NEB_ENST00000427231.2_Missense_Mutation_p.A2808V			P20929	NEBU_HUMAN	nebulin	2808					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)		TATAGCTCGGGCACCAATGTG	0.448																																							0											0													156	149	151					2																	152497131		1899	4117	6016	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8423C>T	2.37:g.152497131G>A	ENSP00000172853:p.Ala2808Val		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.A2808V	ENST00000172853.10	37	c.8423		2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078711	0.76528	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09255	3.26;3.27;3.27;3.0	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.15046	0.0363	L	0.37630	1.12	0.80722	D	1	P	0.47545	0.897	P	0.50082	0.63	T	0.05937	-1.0855	10	0.15952	T	0.53	.	16.0651	0.80865	0.0:0.1332:0.8668:0.0	.	2808	P20929	NEBU_HUMAN	V	2808	ENSP00000386259:A2808V;ENSP00000380505:A2808V;ENSP00000416578:A2808V;ENSP00000172853:A2808V	ENSP00000172853:A2808V	A	-	2	0	NEB	152205377	0.098000	0.21812	0.972000	0.41901	0.971000	0.66376	1.462000	0.35266	2.885000	0.99019	0.655000	0.94253	GCC	0	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.448	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		48	41	0	0.00	0	0	G	NM_004543	0	0		152497131	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	39	15	33.9	37.50	20	9	SNP	1	A	A	152497131	G	A	152497131	3	1	87	1	0	0	0	0	1	0	0	0	10302	1203	42	3	17751	3	NEB	2	152497131	Missense_Mutation	SNP	G	TCGA-YT-A95D-01A-11D-A428-09		152497131	90702242	2	1047											
TTN	7273	genome.wustl.edu	37	chr2	179515498	179515498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctgggggaggagactccGctctttctggaacaggaaca	9	9	13	10	1	3	1	0	0	3	1	4	5	4	4	1	5	2	1	1	5	2	2	rs148140756	byFrequency	TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr2:179515498G>T	ENST00000591111.1	-	164	35392	c.35168C>A	c.(35167-35169)gCg>gAg	p.A11723E	TTN_ENST00000589042.1_Missense_Mutation_p.A13230E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A10796E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	11723	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)			AGGAGACTCCGCTCTTTCTGG	0.418																																							0											0													49	54	53					2																	179515498		1897	4096	5993	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35168C>A	2.37:g.179515498G>T	ENSP00000465570:p.Ala11723Glu		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.A10796E	ENST00000591111.1	37	c.32387		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.555|3.555	-0.090815|-0.090815	0.07053|0.07053	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777|ENST00000426232	T;T|.	0.65364|.	-0.15;-0.15|.	4.91|4.91	-3.33|-3.33	0.04958|0.04958	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.22936|0.22936	0.0554|0.0554	N|N	0.12182|0.12182	0.205|0.205	0.28387|0.28387	N|N	0.919289|0.919289	B|.	0.21821|.	0.061|.	B|.	0.26310|.	0.068|.	T|T	0.33828|0.33828	-0.9853|-0.9853	9|5	0.87932|.	D|.	0|.	.|.	10.3989|10.3989	0.44218|0.44218	0.2399:0.0:0.6318:0.1283|0.2399:0.0:0.6318:0.1283	.|.	11723|.	Q8WZ42|.	TITIN_HUMAN|.	E|R	10796;69;69;23|70	ENSP00000343764:A10796E;ENSP00000408004:A69E|.	ENSP00000343764:A10796E|.	A|S	-|-	2|3	0|2	TTN|TTN	179223743|179223743	0.005000|0.005000	0.15991|0.15991	0.009000|0.009000	0.14445|0.14445	0.058000|0.058000	0.15608|0.15608	0.160000|0.160000	0.16462|0.16462	-0.523000|-0.523000	0.06409|0.06409	-0.238000|-0.238000	0.12139|0.12139	GCG|AGC	0	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	102	178	0	0.56	0	1	G	NM_133378	0	0		179515498	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	71	132	45.8	28.65	60	53	SNP	0.054	T	T	179515498	G	T	179515498	3	4	87	1	0	0	0	0	1	0	0	0	16732	1087	38	5	68198	5	TTN	2	179515498	Missense_Mutation	SNP	G	TCGA-YT-A95D-01A-11D-A428-09	27018367	179515498	63683875	3	1048											
SETMAR	6419	genome.wustl.edu	37	chr3	4358835	4358835	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctttccaagagttcgtcGaatcccaaagcacggatttt	11	12	8	10	3	0	1	0	0	0	1	4	3	2	2	2	1	2	3	2	1	3	4	rs553781514	byFrequency	TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr3:4358835G>T	ENST00000358065.4	+	3	2027	c.1960G>T	c.(1960-1962)Gaa>Taa	p.E654*	SETMAR_ENST00000425863.1_Nonsense_Mutation_p.E515*|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	654	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		agagttcgtcgaatcccaaag	0.393								Chromatin Structure																															0											0													15	16	15					3																	4358835		1553	2712	4265	SO:0001587	stop_gained	0			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1960G>T	3.37:g.4358835G>T	ENSP00000373354:p.Glu654*		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Nonsense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.E654*	ENST00000358065.4	37	c.1960	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	g	12.33	1.905615	0.33628	.	.	ENSG00000170364	ENST00000358065;ENST00000425863	.	.	.	0.225	-0.451	0.12214	.	1.402030	0.04916	U	0.454148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	.	.	.	.	.	.	.	X	654;515	.	ENSP00000373354:E654X	E	+	1	0	SETMAR	4333835	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	-2.753000	0.00791	-2.126000	0.00820	-2.125000	0.00346	GAA	0	NULL		0.393	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	protein_coding	OTTHUMT00000206587.4	40	0	0	0.00	0	0	G	NM_006515	0	0		4358835	1	no_errors	ENST00000358065	ensembl	human	known	74_37	nonsense	49	0	7.55	0.00	4	0	SNP	0.013	T	T	4358835	G	T	4358835	4	4	87	1	0	0	0	0	0	1	0	0	14140	1059	37	5	1970	5	SETMAR	3	4358835	Nonsense_Mutation	SNP	G	TCGA-YT-A95D-01A-11D-A428-09		4358835	193663595	4	1049											
LRFN2	57497	genome.wustl.edu	37	chr6	40400316	40400316	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccagcaggttgtggtccagGctcagctggtggaggttgac	6	10	16	9	0	1	1	1	1	0	0	3	2	3	2	2	6	2	5	2	6	0	2			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr6:40400316G>C	ENST00000338305.6	-	2	1079	c.537C>G	c.(535-537)agC>agG	p.S179R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	179						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)					TGTGGTCCAGGCTCAGCTGGT	0.602																																							0											0													96	96	96					6																	40400316		2203	4300	6503	SO:0001583	missense	0			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.537C>G	6.37:g.40400316G>C	ENSP00000345985:p.Ser179Arg		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.S179R	ENST00000338305.6	37	c.537	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044228	0.55110	.	.	ENSG00000156564	ENST00000338305	T	0.58358	0.34	5.76	1.41	0.22369	.	0.000000	0.85682	D	0.000000	T	0.34861	0.0912	N	0.26162	0.8	0.58432	D	0.999997	P	0.41947	0.766	P	0.52031	0.688	T	0.24977	-1.0145	10	0.54805	T	0.06	.	9.6968	0.40163	0.4009:0.0:0.5991:0.0	.	179	Q9ULH4	LRFN2_HUMAN	R	179	ENSP00000345985:S179R	ENSP00000345985:S179R	S	-	3	2	LRFN2	40508294	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.579000	0.36536	0.353000	0.24079	0.655000	0.94253	AGC	0	smart_Leu-rich_rpt_typical-subtyp		0.602	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	protein_coding	OTTHUMT00000040488.1	23	85	0	0.00	0	0	G	XM_166372	0	0		40400316	-1	no_errors	ENST00000338305	ensembl	human	known	74_37	missense	19	77	26.92	28.70	7	31	SNP	1	C	C	40400316	G	C	40400316	3	2	87	1	0	0	0	0	1	0	0	0	8938	1194	42	5	1840	5	LRFN2	6	40400316	Missense_Mutation	SNP	G	TCGA-YT-A95D-01A-11D-A428-09		40400316	130714751	5	1050											
ZNF451	26036	genome.wustl.edu	37	chr6	57012978	57012979	+	Frame_Shift_Ins	INS	-	-	A																															agattatgtatttgtgtcagINSaaaaaactgaaacttcaatt																										TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr6:57012978_57012979insA	ENST00000370706.4	+	10	2339_2340	c.2095_2096insA	c.(2095-2097)gaafs	p.E699fs	RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Frame_Shift_Ins_p.E699fs|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Frame_Shift_Ins_p.E699fs|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	699					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)			ATTTGTGTCAGAAAAAACTGAA	0.361																																							0											0																																										SO:0001589	frameshift_variant	0			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.2101dupA	6.37:g.57012984_57012984dupA	ENSP00000359740:p.Glu699fs		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T701fs	ENST00000370706.4	37	c.2095_2096	CCDS43477.1	6																																																																																			0	NULL		0.361	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	protein_coding	OTTHUMT00000041035.2	40	248	0	0.00	0	0	0	NM_015555	0	0		57012979	1	no_errors	ENST00000370706	ensembl	human	known	74_37	frame_shift_ins	42	177	28.81	31.13	17	80	INS	1.000:1.000	A	A	57012979	-	A	57012978	7	5	87	1	0	1	1	0	0	0	0	0	17919	943	33	0	2133	0	ZNF451	6	57012978	Frame_Shift_Ins	INS	-	TCGA-YT-A95D-01A-11D-A428-09	16612662	57012978	114102089	6	1051											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	337	100	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	265	86	34.89	42.67	142	64	SNP	1	A	A	74146970	T	A	74146970	3	1	87	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-YT-A95D-01A-11D-A428-09		74146970	84991693	7	1052											
PLAG1	5324	genome.wustl.edu	37	chr8	57079034	57079034	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccatttaaaggtatgAaattaaacaactgagaaaaa	21	8	8	4	0	0	2	0	2	0	1	0	5	0	3	1	2	2	1	1	2	9	4			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr8:57079034A>C	ENST00000316981.3	-	5	1750	c.1271T>G	c.(1270-1272)tTc>tGc	p.F424C	PLAG1_ENST00000429357.2_Missense_Mutation_p.F424C|PLAG1_ENST00000423799.2_Missense_Mutation_p.F342C	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	424	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TAAAGGTATGAAATTAAACAA	0.458			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																		0		Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0													65	71	69					8																	57079034		2203	4300	6503	SO:0001583	missense	0			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1271T>G	8.37:g.57079034A>C	ENSP00000325546:p.Phe424Cys		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F424C	ENST00000316981.3	37	c.1271	CCDS6165.1	8	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347239	0.82022	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.39406	1.08;1.83;1.08	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.62407	-0.6861	10	0.87932	D	0	-22.5619	16.3318	0.83023	1.0:0.0:0.0:0.0	.	424	Q6DJT9	PLAG1_HUMAN	C	424;342;424	ENSP00000325546:F424C;ENSP00000404067:F342C;ENSP00000416537:F424C	ENSP00000325546:F424C	F	-	2	0	PLAG1	57241588	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.248000	0.74166	0.460000	0.39030	TTC	0	NULL		0.458	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLAG1	protein_coding	OTTHUMT00000378212.1	67	216	0	0.00	0	0	A	NM_002655	0	0		57079034	-1	no_errors	ENST00000316981	ensembl	human	known	74_37	missense	62	132	31.87	40.27	29	89	SNP	1	C	C	57079034	A	C	57079034	3	2	87	1	0	0	0	0	1	0	0	0	12018	246	9	5	235	5	PLAG1	8	57079034	Missense_Mutation	SNP	A	TCGA-YT-A95D-01A-11D-A428-09		57079034	89284988	8	1053											
GARNL3	84253	genome.wustl.edu	37	chr9	130149490	130149490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcggatatatacttcacaGcaactgcagctgtgaatgag	13	10	10	8	1	1	2	1	2	0	0	2	3	1	3	0	1	5	3	0	1	5	4			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr9:130149490G>A	ENST00000373387.4	+	25	2759	c.2407G>A	c.(2407-2409)Gca>Aca	p.A803T	GARNL3_ENST00000314904.5_Intron|GARNL3_ENST00000435213.2_Missense_Mutation_p.A781T|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	803					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						ATACTTCACAGCAACTGCAGC	0.552																																							0											0													111	112	112					9																	130149490		2203	4300	6503	SO:0001583	missense	0			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.2407G>A	9.37:g.130149490G>A	ENSP00000362485:p.Ala803Thr		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom	p.A803T	ENST00000373387.4	37	c.2407	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637695	0.29157	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.86627	-2.15;-2.15	5.66	5.66	0.87406	.	0.055014	0.64402	D	0.000001	T	0.81754	0.4889	L	0.32530	0.975	0.80722	D	1	B;B	0.19706	0.038;0.005	B;B	0.12837	0.008;0.004	T	0.75682	-0.3233	9	.	.	.	.	18.3141	0.90213	0.0:0.0:1.0:0.0	.	803;781	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	T	781;803	ENSP00000396205:A781T;ENSP00000362485:A803T	.	A	+	1	0	GARNL3	129189311	1.000000	0.71417	0.981000	0.43875	0.634000	0.38068	5.976000	0.70484	2.648000	0.89879	0.655000	0.94253	GCA	0	smart_Citron		0.552	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	protein_coding	OTTHUMT00000054151.3	39	70	0	0.00	0	0	G	NM_032293	0	0		130149490	1	no_errors	ENST00000373387	ensembl	human	known	74_37	missense	39	85	18.37	13.27	9	13	SNP	1	A	A	130149490	G	A	130149490	3	1	87	1	0	0	0	0	1	0	0	0	6241	971	34	3	2505	3	GARNL3	9	130149490	Missense_Mutation	SNP	G	TCGA-YT-A95D-01A-11D-A428-09		130149490	11063941	9	1054											
GTPBP4	23560	genome.wustl.edu	37	chr10	1045028	1045028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggattataagtatctacGttggcaggtgagagtcttgt	10	14	12	5	1	2	1	0	1	2	1	2	3	2	2	0	3	1	3	0	3	4	6	rs566484717		TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr10:1045028G>A	ENST00000360803.4	+	6	729	c.647G>A	c.(646-648)cGt>cAt	p.R216H	GTPBP4_ENST00000545048.1_Missense_Mutation_p.R169H|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.R100H	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	216	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				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)		AAGTATCTACGTTGGCAGGTG	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		21385	0		0	False		,,,				2504	0						0											0													185	149	161					10																	1045028		2203	4300	6503	SO:0001583	missense	0			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.647G>A	10.37:g.1045028G>A	ENSP00000354040:p.Arg216His		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.R216H	ENST00000360803.4	37	c.647	CCDS31132.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.242615	0.95272	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.37752	1.18;1.21;1.19	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.75258	-0.3381	10	0.87932	D	0	-13.5672	19.5786	0.95455	0.0:0.0:1.0:0.0	.	216	Q9BZE4	NOG1_HUMAN	H	216;100;169	ENSP00000354040:R216H;ENSP00000444277:R100H;ENSP00000445473:R169H	ENSP00000354040:R216H	R	+	2	0	GTPBP4	1035028	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	9.566000	0.98157	2.639000	0.89480	0.555000	0.69702	CGT	0	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom		0.443	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	protein_coding	OTTHUMT00000046412.1	101	191	0	0.00	0	0	G	NM_012341	rs566484717	G->A		1045028	1	no_errors	ENST00000360803	ensembl	human	known	74_37	missense	82	121	27.43	38.38	31	76	SNP	1	A	A	1045028	G	A	1045028	3	1	87	1	0	0	0	0	1	0	0	0	6882	1145	40	1	669	1	GTPBP4	10	1045028	Missense_Mutation	SNP	G	TCGA-YT-A95D-01A-11D-A428-09		1045028	134489719	10	1055											
UNC93B1	81622	genome.wustl.edu	37	chr11	67759145	67759145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccgcgccgtccccatGctcgccctccgcgtcgctct	1	9	8	23	7	1	0	0	0	1	0	7	0	5	0	7	0	1	2	7	0	0	0			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr11:67759145G>A	ENST00000227471.2	-	12	1742	c.1663C>T	c.(1663-1665)Cat>Tat	p.H555Y	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	556					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)											CCGTCCCCATGCTCGCCCTCC	0.766																																							0											0													1	1	1					11																	67759145		445	1072	1517	SO:0001583	missense	0			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.1663C>T	11.37:g.67759145G>A	ENSP00000227471:p.His555Tyr		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.H555Y	ENST00000227471.2	37	c.1663		11	.	.	.	.	.	.	.	.	.	.	.	9.850	1.193345	0.22037	.	.	ENSG00000110057	ENST00000227471	T	0.06608	3.28	4.47	0.336	0.15958	.	1.263100	0.05255	N	0.514789	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45086	-0.9285	9	.	.	.	-0.1233	1.4139	0.02297	0.2622:0.1435:0.4471:0.1471	.	556	Q9H1C4	UN93B_HUMAN	Y	555	ENSP00000227471:H555Y	.	H	-	1	0	UNC93B1	67515721	0.001000	0.12720	0.001000	0.08648	0.039000	0.13416	0.684000	0.25364	-0.222000	0.09958	-1.386000	0.01163	CAT	0	NULL		0.766	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		21	0	4.55	0.00	1	0	G	NM_030930	0	0		67759145	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	31	2	8.82	0.00	3	0	SNP	0.007	A	A	67759145	G	A	67759145	3	1	87	1	0	0	0	0	1	0	0	0	16994	1319	46	3	131	3	UNC93B1	11	67759145	Missense_Mutation	SNP	G	TCGA-YT-A95D-01A-11D-A428-09		67759145	67247371	11	1056											
YARS2	51067	genome.wustl.edu	37	chr12	32908584	32908584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgaagccacagtaaatGgtttggggaaaactcgccgt	11	8	14	8	3	0	0	0	0	0	0	2	2	0	1	2	4	2	2	2	4	5	2	rs376399300		TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr12:32908584G>A	ENST00000324868.8	-	1	252	c.225C>T	c.(223-225)acC>acT	p.T75T		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	75					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)	CACAGTAAATGGTTTGGGGAA	0.572											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0								G		2,4404	4.2+/-10.8	0,2,2201	109	116	113		225	-2.8	0	12		113	0,8600		0,0,4300	no	coding-synonymous	YARS2	NM_001040436.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		75/478	32908584	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			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.225C>T	12.37:g.32908584G>A		836	D3DUW8|Q9H817	Silent	SNP	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.T75	ENST00000324868.8	37	c.225	CCDS31770.1	12																																																																																			0	pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase		0.572	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	protein_coding	OTTHUMT00000404153.1	75	154	0	0.00	0	0	G	NM_015936	rs376399300	G->A		32908584	-1	no_errors	ENST00000324868	ensembl	human	known	74_37	silent	51	102	39.29	30.61	33	45	SNP	0.003	A	A	32908584	G	A	32908584	2	1	87	1	0	0	0	0	0	0	0	1	17465	1335	47	3		3	YARS2	12	32908584	Silent	SNP	G	TCGA-YT-A95D-01A-11D-A428-09		32908584	100943311	12	1057											
KRT78	196374	genome.wustl.edu	37	chr12	53242534	53242534	+	Frame_Shift_Del	DEL	T	T	-																															cccaaaccgcacccccagccTaccccctgacccccaggtac																										TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr12:53242534delT	ENST00000304620.4	-	1	244	c.181delA	c.(181-183)aggfs	p.R61fs	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	61	Gly-rich.|Head.					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						ACCCCCAGCCTACCCCCTGAC	0.647																																							0											0													25	25	25					12																	53242534		2203	4298	6501	SO:0001589	frameshift_variant	0			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.181delA	12.37:g.53242534delT	ENSP00000306261:p.Arg61fs		A8K4D6|Q5HYM7|Q7RTT2	Frame_Shift_Del	DEL	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R61fs	ENST00000304620.4	37	c.181	CCDS8840.1	12																																																																																			0	NULL		0.647	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	protein_coding	OTTHUMT00000406380.1	36	100	0	0.00	0	0	T	NM_173352	0	0		53242534	-1	no_errors	ENST00000304620	ensembl	human	known	74_37	frame_shift_del	35	84	40.68	21.50	24	23	DEL	0.447	0	-	53242534	T	-	53242534	7	5	87	1	0	1	0	1	0	0	0	0	8491	1521	53	0	1417	0	KRT78	12	53242534	Frame_Shift_Del	DEL	T	TCGA-YT-A95D-01A-11D-A428-09	20333950	53242534	80609361	13	1058	5	2									
KRT78	196374	genome.wustl.edu	37	chr12	53242536	53242536	+	Missense_Mutation	SNP	C	C	A																															caaaccgcacccccagcctaCcccctgacccccaggtactc																										TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr12:53242536C>A	ENST00000304620.4	-	1	242	c.179G>T	c.(178-180)gGt>gTt	p.G60V	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	60	Gly-rich.|Head.					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						CCCCAGCCTACCCCCTGACCC	0.647																																							0											0													24	25	24					12																	53242536		2203	4298	6501	SO:0001583	missense	0			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.179G>T	12.37:g.53242536C>A	ENSP00000306261:p.Gly60Val		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G60V	ENST00000304620.4	37	c.179	CCDS8840.1	12	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051862	0.55218	.	.	ENSG00000170423	ENST00000304620	D	0.85484	-1.99	5.18	-2.93	0.05598	.	.	.	.	.	T	0.80879	0.4708	M	0.82323	2.585	0.09310	N	1	B	0.22480	0.07	B	0.16722	0.016	T	0.67734	-0.5594	9	0.42905	T	0.14	.	1.9619	0.03387	0.223:0.2721:0.3458:0.1591	.	60	Q8N1N4	K2C78_HUMAN	V	60	ENSP00000306261:G60V	ENSP00000306261:G60V	G	-	2	0	KRT78	51528803	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	-0.234000	0.09028	-0.368000	0.08040	-0.339000	0.08088	GGT	0	NULL		0.647	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	protein_coding	OTTHUMT00000406380.1	37	99	0	0.00	0	0	C	NM_173352	0	0		53242536	-1	no_errors	ENST00000304620	ensembl	human	known	74_37	missense	36	82	40	21.70	24	23	SNP	0	A	A	53242536	C	A	53242536	3	1	87	1	0	0	0	0	1	0	0	0	8491	507	18	5	1419	5	KRT78	12	53242536	Missense_Mutation	SNP	C	TCGA-YT-A95D-01A-11D-A428-09	2	53242536	80609359	14	1059	5	2									
MYH14	79784	genome.wustl.edu	37	chr19	50762522	50762522	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccaggagttccggcagcGgtgagctagagcgagggccc	7	6	16	12	3	0	2	0	1	0	1	2	4	2	3	3	4	3	3	3	4	1	3			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr19:50762522G>A	ENST00000596571.1	+	16	2231	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	MYH14_ENST00000440075.2_Splice_Site_p.R785Q|MYH14_ENST00000262269.8_Splice_Site_p.R785Q|MYH14_ENST00000376970.2_Splice_Site_p.R777Q|MYH14_ENST00000601313.1_Splice_Site_p.R785Q|MYH14_ENST00000598205.1_Splice_Site_p.R752Q|MYH14_ENST00000425460.1_Splice_Site_p.R752Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	744	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)		TTCCGGCAGCGGTGAGCTAGA	0.672																																							0											0													10	12	12					19																	50762522		2145	4264	6409	SO:0001630	splice_region_variant	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2231+1G>A	19.37:g.50762522G>A			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.R785Q	ENST00000596571.1	37	c.2354	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752393	0.89753	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	3.39	3.39	0.38822	Myosin head, motor domain (2);	.	.	.	.	D	0.96018	0.8703	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.988	D	0.96644	0.9476	9	0.87932	D	0	.	12.6659	0.56842	0.0:0.0:1.0:0.0	.	785;744;752	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	744;785;777;752;744;785	ENSP00000406273:R785Q;ENSP00000366169:R777Q;ENSP00000407879:R752Q;ENSP00000262269:R785Q	ENSP00000262269:R785Q	R	+	2	0	MYH14	55454334	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.497000	0.97970	1.917000	0.55516	0.484000	0.47621	CGA	0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.672	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	32	19	0	0.00	0	0	G	NM_024729	0	0	Missense_Mutation	50762522	1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	44	37	8.33	7.50	4	3	SNP	1	A	A	50762522	G	A	50762522	5	1	87	1	0	0	0	0	0	0	1	0	10033	1130	39	2	2424	2	MYH14	19	50762522	Splice_Site	SNP	G	TCGA-YT-A95D-01A-11D-A428-09		50762522	8366461	15	1060											
OCRL	4952	genome.wustl.edu	37	chrX	128692701	128692701	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgggattcatcgggaaccCccacctccacccttttcagt	8	10	7	16	1	2	0	2	0	0	0	4	2	3	2	5	2	1	0	5	2	1	3			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chrX:128692701C>A	ENST00000371113.4	+	7	696	c.531C>A	c.(529-531)ccC>ccA	p.P177P	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Silent_p.P177P	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	177					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						ATCGGGAACCCCCACCTCCAC	0.353																																							0											0													61	58	59					X																	128692701		2203	4300	6503	SO:0001819	synonymous_variant	0			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.531C>A	X.37:g.128692701C>A			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	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.P177	ENST00000371113.4	37	c.531	CCDS35393.1	X																																																																																			0	NULL		0.353	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	protein_coding	OTTHUMT00000058917.1	152	284	0	0.35	0	1	C	NM_000276	0	0		128692701	1	no_errors	ENST00000371113	ensembl	human	known	74_37	silent	105	187	43.24	29.70	80	79	SNP	0.486	A	A	128692701	C	A	128692701	2	1	87	1	0	0	0	0	0	0	0	1	10823	610	22	5		5	OCRL	23	128692701	Silent	SNP	C	TCGA-YT-A95D-01A-11D-A428-09		128692701	26577859	16	1061											
FAM3A	60343	genome.wustl.edu	37	chrX	153741210	153741210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaggaggatgctgaccaCgatccatgtgacacccacac	12	5	9	15	1	0	2	0	2	0	0	1	5	1	4	4	2	1	1	4	2	0	0			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chrX:153741210C>T	ENST00000447601.2	-	2	530	c.64G>A	c.(64-66)Gtg>Atg	p.V22M	FAM3A_ENST00000393572.1_Intron|FAM3A_ENST00000369641.3_Missense_Mutation_p.V22M|FAM3A_ENST00000434658.2_Missense_Mutation_p.V22M|FAM3A_ENST00000359889.5_Missense_Mutation_p.V22M|FAM3A_ENST00000369643.1_Missense_Mutation_p.V22M|FAM3A_ENST00000492763.1_5'UTR	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	22						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)					ATGCTGACCACGATCCATGTG	0.602																																							0											0													155	114	128					X																	153741210		2203	4300	6503	SO:0001583	missense	0			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.64G>A	X.37:g.153741210C>T	ENSP00000416146:p.Val22Met		A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	NULL	p.V22M	ENST00000447601.2	37	c.64	CCDS35453.1	X	.	.	.	.	.	.	.	.	.	.	C	4.701	0.130404	0.08981	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000426266	T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85	4.61	-9.22	0.00675	.	0.757240	0.11851	N	0.523307	T	0.14141	0.0342	L	0.43152	1.355	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.18587	-1.0332	10	0.66056	D	0.02	.	3.6557	0.08220	0.1348:0.1016:0.2856:0.478	.	22;22	B4DFI8;P98173	.;FAM3A_HUMAN	M	22	ENSP00000396243:V22M;ENSP00000352955:V22M;ENSP00000358657:V22M;ENSP00000416146:V22M;ENSP00000358655:V22M;ENSP00000396845:V22M	ENSP00000320521:V22M	V	-	1	0	FAM3A	153394404	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-2.875000	0.00718	-2.316000	0.00645	-0.743000	0.03520	GTG	0	NULL		0.602	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3A	protein_coding	OTTHUMT00000037362.2	38	82	0	0.00	0	0	C		0	0		153741210	-1	no_errors	ENST00000359889	ensembl	human	known	74_37	missense	39	84	27.78	36.84	15	49	SNP	0	T	T	153741210	C	T	153741210	3	4	87	1	0	0	0	0	1	0	0	0	5556	536	19	1	660	1	FAM3A	23	153741210	Missense_Mutation	SNP	C	TCGA-YT-A95D-01A-11D-A428-09	25048509	153741210	1529350	17	1062											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-YT-A95E-01A-11D-A428-09	TCGA-YT-A95E-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3bce0fcd-ac9e-4258-8d3d-512182391086	408f6213-e92d-414e-b095-4d09713ba744	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	435	147	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	391	132	8.43	8.97	36	13	SNP	1	A	A	74146970	T	A	74146970	3	1	88	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-YT-A95E-01A-11D-A428-09		74146970	84991693	1	1063											
GPR158	57512	genome.wustl.edu	37	chr10	25684867	25684867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattaaaggcctaggattcGttcttggagcctatgagtgc	10	12	11	8	1	1	1	0	1	1	0	2	3	1	3	2	3	2	1	2	3	5	6	rs369165750		TCGA-YT-A95E-01A-11D-A428-09	TCGA-YT-A95E-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3bce0fcd-ac9e-4258-8d3d-512182391086	408f6213-e92d-414e-b095-4d09713ba744	g.chr10:25684867G>A	ENST00000376351.3	+	3	1395	c.1036G>A	c.(1036-1038)Gtt>Att	p.V346I	RN7SKP220_ENST00000410611.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	346					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						CCTAGGATTCGTTCTTGGAGC	0.408																																							0											0								G	ILE/VAL	0,4406		0,0,2203	145	125	132		1036	5.3	1	10		132	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR158	NM_020752.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	346/1216	25684867	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1036G>A	10.37:g.25684867G>A	ENSP00000365529:p.Val346Ile		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.V346I	ENST00000376351.3	37	c.1036	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802124	0.70682	0.0	1.16E-4	ENSG00000151025	ENST00000376351	T	0.61040	0.14	5.3	5.3	0.74995	.	0.000000	0.52532	D	0.000064	T	0.56470	0.1987	L	0.45051	1.395	0.52099	D	0.999945	D	0.57571	0.98	P	0.45377	0.478	T	0.56378	-0.7989	10	0.37606	T	0.19	.	19.3159	0.94213	0.0:0.0:1.0:0.0	.	346	Q5T848	GP158_HUMAN	I	346	ENSP00000365529:V346I	ENSP00000365529:V346I	V	+	1	0	GPR158	25724873	1.000000	0.71417	0.984000	0.44739	0.922000	0.55478	6.722000	0.74735	2.630000	0.89119	0.591000	0.81541	GTT	0	NULL		0.408	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	protein_coding	OTTHUMT00000047248.2	58	267	0	0.00	0	0	G	XM_166110	rs369165750	G->A		25684867	1	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	37	257	9.76	7.55	4	21	SNP	1	A	A	25684867	G	A	25684867	3	1	88	1	0	0	0	0	1	0	0	0	6663	1145	40	1	1046	1	GPR158	10	25684867	Missense_Mutation	SNP	G	TCGA-YT-A95E-01A-11D-A428-09		25684867	109849880	2	1064											
PPP1R14B	26472	genome.wustl.edu	37	chr11	64014017	64014017	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgggccctcatcgtccgcCccgcccgggccctctcctgc	2	7	10	22	4	2	0	1	0	1	0	5	0	3	0	7	2	1	0	7	2	0	0	rs1063811	byFrequency	TCGA-YT-A95E-01A-11D-A428-09	TCGA-YT-A95E-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3bce0fcd-ac9e-4258-8d3d-512182391086	408f6213-e92d-414e-b095-4d09713ba744	g.chr11:64014017C>G	ENST00000309318.3	-	1	396	c.129G>C	c.(127-129)ggG>ggC	p.G43G	RP11-783K16.13_ENST00000545800.1_lincRNA|PPP1R14B_ENST00000392210.2_5'Flank|RP11-783K16.5_ENST00000544553.1_RNA|PPP1R14B_ENST00000542235.1_5'Flank|RP11-783K16.5_ENST00000538355.1_RNA	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	43					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						CATCGTCCGCCCCGCCCGGGC	0.721																																							0											0																																										SO:0001819	synonymous_variant	0			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.129G>C	11.37:g.64014017C>G			Q504S7|Q7KZD7	Silent	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.G43	ENST00000309318.3	37	c.129	CCDS31596.1	11																																																																																			0	superfamily_PP1_inhibitor		0.721	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14B	protein_coding	OTTHUMT00000396586.2	64	14	0	0.00	0	0	C	NM_138689	rs1063811	C->G		64014017	-1	no_errors	ENST00000309318	ensembl	human	known	74_37	silent	39	7	9.3	0.00	4	0	SNP	0	G	G	64014017	C	G	64014017	2	3	88	1	0	0	0	0	0	0	0	1	12360	610	22	5		5	PPP1R14B	11	64014017	Silent	SNP	C	TCGA-YT-A95E-01A-11D-A428-09		64014017	70992499	3	1065											
TAOK3	51347	genome.wustl.edu	37	chr12	118599688	118599688	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagctggttttccagttCcgtctggtgctgtaaacgga	6	13	11	11	2	1	0	0	0	1	0	4	1	4	1	3	3	3	5	3	3	2	4			TCGA-YT-A95E-01A-11D-A428-09	TCGA-YT-A95E-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3bce0fcd-ac9e-4258-8d3d-512182391086	408f6213-e92d-414e-b095-4d09713ba744	g.chr12:118599688C>A	ENST00000392533.3	-	18	2534	c.2044G>T	c.(2044-2046)Gaa>Taa	p.E682*	TAOK3_ENST00000419821.2_Nonsense_Mutation_p.E682*|TAOK3_ENST00000537952.1_Nonsense_Mutation_p.E222*|TAOK3_ENST00000543709.1_5'Flank	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	682					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|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 stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTCCAGTTCCGTCTGGTGC	0.498																																							0											0													227	196	206					12																	118599688		2203	4300	6503	SO:0001587	stop_gained	0			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2044G>T	12.37:g.118599688C>A	ENSP00000376317:p.Glu682*		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	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.E682*	ENST00000392533.3	37	c.2044	CCDS9188.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.605518|12.605518	0.99681|0.99681	.|.	.|.	ENSG00000135090|ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952|ENST00000359811	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81997	.|0.4941	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.83314	.|-0.0021	.|4	0.87932|0.87932	D|D	0|0	.|.	19.6982|19.6982	0.96039|0.96039	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	682;682;222|299	.|.	ENSP00000376317:E682X|ENSP00000352863:G299V	E|G	-|-	1|2	0|0	TAOK3|TAOK3	117084071|117084071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.609000|7.609000	0.82925|0.82925	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAA|GGA	0	NULL		0.498	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	protein_coding	OTTHUMT00000401456.2	23	187	0	0.00	0	0	C	NM_016281	0	0		118599688	-1	no_errors	ENST00000392533	ensembl	human	known	74_37	nonsense	18	253	18.18	7.94	4	22	SNP	1	A	A	118599688	C	A	118599688	4	1	88	1	0	0	0	0	0	1	0	0	15546	864	30	5	668	5	TAOK3	12	118599688	Nonsense_Mutation	SNP	C	TCGA-YT-A95E-01A-11D-A428-09		118599688	15252207	4	1066											
DPEP1	1800	genome.wustl.edu	37	chr16	89696827	89696827	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggaccccaccatgtggagCggatggtggctgtggcccct	5	7	17	12	1	0	0	0	0	0	0	0	3	0	3	5	7	1	1	5	7	0	0	rs548760657		TCGA-YT-A95E-01A-11D-A428-09	TCGA-YT-A95E-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3bce0fcd-ac9e-4258-8d3d-512182391086	408f6213-e92d-414e-b095-4d09713ba744	g.chr16:89696827C>T	ENST00000393092.3	+	2	300	c.9C>T	c.(7-9)agC>agT	p.S3S	DPEP1_ENST00000261615.4_Silent_p.S3S|DPEP1_ENST00000421184.1_Silent_p.S3S	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	3					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)	CCATGTGGAGCGGATGGTGGC	0.637																																							0											0													66	66	66					16																	89696827		2198	4300	6498	SO:0001819	synonymous_variant	0				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.9C>T	16.37:g.89696827C>T			D3DX80|Q96AK2	Silent	SNP	pfam_Peptidase_M19	p.S3	ENST00000393092.3	37	c.9	CCDS10982.1	16																																																																																			0	NULL		0.637	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	protein_coding	OTTHUMT00000423058.1	57	79	0	0.00	0	0	C	NM_001128141	rs548760657	C->T		89696827	1	no_errors	ENST00000261615	ensembl	human	known	74_37	silent	61	70	8.96	5.41	6	4	SNP	0.103	T	T	89696827	C	T	89696827	2	4	88	1	0	0	0	0	0	0	0	1	4713	767	27	1		1	DPEP1	16	89696827	Silent	SNP	C	TCGA-YT-A95E-01A-11D-A428-09		89696827	657926	5	1067											
KCNH4	23415	genome.wustl.edu	37	chr17	40318361	40318361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagcacctcaagcgagccGgagcagacatagtaatgtgc	12	5	13	11	3	1	1	1	0	0	1	1	4	1	3	2	2	5	3	2	2	3	2			TCGA-YT-A95E-01A-11D-A428-09	TCGA-YT-A95E-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3bce0fcd-ac9e-4258-8d3d-512182391086	408f6213-e92d-414e-b095-4d09713ba744	g.chr17:40318361G>A	ENST00000264661.3	-	10	2126	c.1794C>T	c.(1792-1794)tcC>tcT	p.S598S	KCNH4_ENST00000607371.1_Silent_p.S598S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	598					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)		CAAGCGAGCCGGAGCAGACAT	0.627																																					NSCLC(117;707 1703 2300 21308 31858)		0											0													57	51	53					17																	40318361		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1794C>T	17.37:g.40318361G>A				Silent	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.S598	ENST00000264661.3	37	c.1794	CCDS11420.1	17																																																																																			0	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.627	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	protein_coding	OTTHUMT00000449791.2	22	139	0	0.00	0	0	G	NM_012285	0	0		40318361	-1	no_errors	ENST00000264661	ensembl	human	known	74_37	silent	25	106	19.35	5.36	6	6	SNP	0.665	A	A	40318361	G	A	40318361	2	1	88	1	0	0	0	0	0	0	0	1	8034	1103	39	2		2	KCNH4	17	40318361	Silent	SNP	G	TCGA-YT-A95E-01A-11D-A428-09		40318361	40876849	6	1068											
CCL25	6370	genome.wustl.edu	37	chr19	8122791	8122791	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaatgtctccctcctgatAtcagctaattcaggtaagga	12	11	9	9	0	3	1	2	1	1	0	5	3	4	3	2	3	1	2	2	3	4	4			TCGA-YT-A95E-01A-11D-A428-09	TCGA-YT-A95E-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3bce0fcd-ac9e-4258-8d3d-512182391086	408f6213-e92d-414e-b095-4d09713ba744	g.chr19:8122791A>G	ENST00000390669.3	+	4	482	c.432A>G	c.(430-432)atA>atG	p.I144M	CCL25_ENST00000253451.4_Missense_Mutation_p.I143M			O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	144					cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|hormone activity (GO:0005179)			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ccctcctgatatcagctaatt	0.478																																							0											0													160	151	154					19																	8122791		2028	4182	6210	SO:0001583	missense	0			U86358	CCDS12194.1, CCDS56080.1	19p13.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000131142	ENSG00000131142		"Chemokine ligands", "Endogenous ligands"	10624	protein-coding gene	gene with protein product	"Ck beta-15", "thymus expressed chemokine", "TECKvar"	602565	"small inducible cytokine subfamily A (Cys-Cys), member 25"	SCYA25		9285413, 9722960	Standard	NM_005624		Approved	TECK, Ckb15	uc002mjd.3	O15444	OTTHUMG00000141287	ENST00000390669.3:c.432A>G	19.37:g.8122791A>G	ENSP00000375086:p.Ile144Met		A1L4J4|A6NI52|A8K9E7|B5MCA5|Q96KJ7	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.I144M	ENST00000390669.3	37	c.432	CCDS12194.1	19	.	.	.	.	.	.	.	.	.	.	A	3.921	-0.018141	0.07681	.	.	ENSG00000131142	ENST00000253451;ENST00000390669	T;T	0.15139	2.45;2.45	0.996	-0.196	0.13232	.	.	.	.	.	T	0.08492	0.0211	N	0.14661	0.345	0.09310	N	1	B;B	0.21071	0.051;0.051	B;B	0.12837	0.008;0.008	T	0.31194	-0.9952	9	0.62326	D	0.03	.	3.6839	0.08320	0.5895:0.4105:0.0:0.0	.	144;143	O15444;A6NI52	CCL25_HUMAN;.	M	143;144	ENSP00000253451:I143M;ENSP00000375086:I144M	ENSP00000253451:I143M	I	+	3	3	CCL25	8028791	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.107000	0.15375	-0.126000	0.11682	0.254000	0.18369	ATA	0	NULL		0.478	CCL25-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CCL25	protein_coding	OTTHUMT00000280522.1	90	236	0	0.00	0	0	A	NM_005624	0	0		8122791	1	no_errors	ENST00000390669	ensembl	human	known	74_37	missense	67	225	12.99	5.06	10	12	SNP	0	G	G	8122791	A	G	8122791	3	3	88	1	0	0	0	0	1	0	0	0	2897	439	16	3	446	3	CCL25	19	8122791	Missense_Mutation	SNP	A	TCGA-YT-A95E-01A-11D-A428-09		8122791	51006192	7	1069											
PRIC285	85441	genome.wustl.edu	37	chr20	62191616	62191616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgcgcgttgtagggcGtgaggacggcgatgtcctgg	5	8	19	9	5	0	1	0	1	0	0	1	3	1	2	2	5	1	2	2	5	1	2	rs561821964		TCGA-YT-A95E-01A-11D-A428-09	TCGA-YT-A95E-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3bce0fcd-ac9e-4258-8d3d-512182391086	408f6213-e92d-414e-b095-4d09713ba744	g.chr20:62191616G>A	ENST00000467148.1	-	17	7634	c.7565C>T	c.(7564-7566)aCg>aTg	p.T2522M	HELZ2_ENST00000427522.2_Missense_Mutation_p.T1953M	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2522	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)										GTTGTAGGGCGTGAGGACGGC	0.677													G|||	1	0.000199681	8e-04	0	5008	,	,		15817	0		0	False		,,,				2504	0						0.9998,0.0001997											0													44	31	35					20																	62191616		2185	4296	6481	SO:0001583	missense	0			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.7565C>T	20.37:g.62191616G>A	ENSP00000417401:p.Thr2522Met		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.T2522M	ENST00000467148.1	37	c.7565	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182479	0.38511	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.95035	-3.59;-3.59	3.94	2.95	0.34219	.	0.364193	0.25827	N	0.028047	D	0.97873	0.9301	H	0.97186	3.955	0.29207	N	0.874841	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.93410	0.6768	10	0.87932	D	0	-16.7696	11.3755	0.49726	0.0:0.2948:0.7052:0.0	.	2522;1953	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	M	1953;2522	ENSP00000393257:T1953M;ENSP00000417401:T2522M	ENSP00000393257:T1953M	T	-	2	0	RP4-697K14.7	61662060	1.000000	0.71417	0.766000	0.31476	0.192000	0.23643	3.248000	0.51430	1.772000	0.52199	0.491000	0.48974	ACG	0	superfamily_P-loop_NTPase		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	protein_coding	OTTHUMT00000354127.1	57	140	0	0.00	0	0	G	NM_001037335	rs561821964	G->A		62191616	-1	no_errors	ENST00000467148	ensembl	human	known	74_37	missense	43	117	10.42	4.84	5	6	SNP	0.843	A	A	62191616	G	A	62191616	3	1	88	1	0	0	0	0	1	0	0	0	12485	1145	40	1	396	1	PRIC285	20	62191616	Missense_Mutation	SNP	G	TCGA-YT-A95E-01A-11D-A428-09		62191616	833904	8	1070											
FTHL17	53940	genome.wustl.edu	37	chrX	31089833	31089833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatatcgtgaaggcagatgtGgccaccgcgcaggttctgca	9	8	14	10	3	1	2	0	1	1	1	2	3	1	2	2	3	1	4	2	3	2	2			TCGA-YT-A95E-01A-11D-A428-09	TCGA-YT-A95E-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3bce0fcd-ac9e-4258-8d3d-512182391086	408f6213-e92d-414e-b095-4d09713ba744	g.chrX:31089833G>T	ENST00000359202.3	-	1	337	c.238C>A	c.(238-240)Cac>Aac	p.H80N		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	80	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGGCAGATGTGGCCACCGCGC	0.602																																							0											0													61	55	57					X																	31089833		2202	4300	6502	SO:0001583	missense	0			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.238C>A	X.37:g.31089833G>T	ENSP00000368207:p.His80Asn		Q6NT24|Q6NTE2	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.H80N	ENST00000359202.3	37	c.238	CCDS14227.1	X	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791123	0.31685	.	.	ENSG00000132446	ENST00000359202	T	0.62788	0.0	3.46	0.504	0.16946	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.408346	0.25786	N	0.028318	T	0.46698	0.1406	L	0.41710	1.295	0.09310	N	0.999999	B	0.13594	0.008	B	0.23275	0.045	T	0.41840	-0.9486	10	0.87932	D	0	.	3.9133	0.09213	0.2418:0.0:0.5694:0.1888	.	80	Q9BXU8	FHL17_HUMAN	N	80	ENSP00000368207:H80N	ENSP00000368207:H80N	H	-	1	0	FTHL17	30999754	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	0.844000	0.27654	-0.014000	0.14175	-0.269000	0.10298	CAC	0	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron		0.602	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTHL17	protein_coding	OTTHUMT00000056178.1	28	8	0	0.00	0	0	G	NM_031894	0	0		31089833	-1	no_errors	ENST00000359202	ensembl	human	known	74_37	missense	22	5	15.38	0.00	4	0	SNP	0.974	T	T	31089833	G	T	31089833	3	4	88	1	0	0	0	0	1	0	0	0	6083	1348	47	5	317	5	FTHL17	23	31089833	Missense_Mutation	SNP	G	TCGA-YT-A95E-01A-11D-A428-09		31089833	124180727	9	1071											
ATXN7L2	127002	genome.wustl.edu	37	chr1	110031490	110031490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactcagtacaccagcgcCgggaagtccagggccgggcc	8	4	13	16	3	1	0	1	0	0	0	3	1	3	1	6	3	2	1	6	3	2	1			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr1:110031490C>T	ENST00000369870.3	+	7	820	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	269	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									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)		ACACCAGCGCCGGGAAGTCCA	0.617																																							0											0													45	51	49					1																	110031490		2203	4300	6503	SO:0001583	missense	0			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.805C>T	1.37:g.110031490C>T	ENSP00000358886:p.Arg269Trp			Missense_Mutation	SNP	pfam_SCA7_dom	p.R269W	ENST00000369870.3	37	c.805	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859930	0.71834	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.68025	-0.3	5.72	2.69	0.31865	SCA7 domain (2);	0.112000	0.39985	N	0.001214	T	0.70701	0.3254	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.74441	-0.3664	10	0.87932	D	0	-9.4129	12.7002	0.57026	0.4353:0.5647:0.0:0.0	.	269	Q5T6C5	AT7L2_HUMAN	W	269	ENSP00000358886:R269W	ENSP00000358886:R269W	R	+	1	2	ATXN7L2	109833013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.095000	0.30964	0.280000	0.22209	0.561000	0.74099	CGG	0	pfam_SCA7_dom		0.617	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	protein_coding	OTTHUMT00000030331.1	31	77	0	0.00	0	0	C	NM_153340	0	0		110031490	1	no_errors	ENST00000369870	ensembl	human	known	74_37	missense	20	121	13.04	8.33	3	11	SNP	1	T	T	110031490	C	T	110031490	3	4	89	1	0	0	0	0	1	0	0	0	1217	643	23	2	831	2	ATXN7L2	1	110031490	Missense_Mutation	SNP	C	TCGA-YT-A95F-01A-11D-A428-09		110031490	139219131	1	1072											
NES	10763	genome.wustl.edu	37	chr1	156640813	156640813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgcctctggcagcccctggGgagcctggaggcctggggcc	3	6	17	15	1	1	0	0	0	1	0	2	2	1	2	6	7	2	1	6	7	0	0			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr1:156640813G>A	ENST00000368223.3	-	4	3299	c.3167C>T	c.(3166-3168)cCc>cTc	p.P1056L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1056	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)					CAGCCCCTGGGGAGCCTGGAG	0.667																																							0											0													30	36	34					1																	156640813		2195	4288	6483	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3167C>T	1.37:g.156640813G>A	ENSP00000357206:p.Pro1056Leu		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.P1056L	ENST00000368223.3	37	c.3167	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114172	0.37339	.	.	ENSG00000132688	ENST00000368223	D	0.84944	-1.92	5.16	2.08	0.27032	.	0.478255	0.15778	N	0.245082	T	0.62998	0.2474	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.60367	-0.7277	10	0.87932	D	0	.	5.9543	0.19265	0.1747:0.0:0.6688:0.1564	.	1056	P48681	NEST_HUMAN	L	1056	ENSP00000357206:P1056L	ENSP00000357206:P1056L	P	-	2	0	NES	154907437	0.000000	0.05858	0.009000	0.14445	0.002000	0.02628	0.001000	0.13038	1.325000	0.45301	-0.219000	0.12488	CCC	0	NULL		0.667	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	protein_coding	OTTHUMT00000082844.2	42	57	0	0.00	0	0	G	NM_006617	0	0		156640813	-1	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	21	46	19.23	26.98	5	17	SNP	0.001	A	A	156640813	G	A	156640813	3	1	89	1	0	0	0	0	1	0	0	0	10337	1232	43	3	1702	3	NES	1	156640813	Missense_Mutation	SNP	G	TCGA-YT-A95F-01A-11D-A428-09	46609323	156640813	92609808	2	1073											
FNIP1	96459	genome.wustl.edu	37	chr5	131006239	131006239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaacaaagtcaggcaCataagatgagcagtagccac	17	6	10	8	0	1	4	1	2	0	2	1	4	1	4	1	1	3	3	1	1	5	3			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr5:131006239C>T	ENST00000510461.1	-	15	3120	c.3025G>A	c.(3025-3027)Gtg>Atg	p.V1009M	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.V981M|FNIP1_ENST00000307954.8_Missense_Mutation_p.V964M	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	1009					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AAGTCAGGCACATAAGATGAG	0.478																																							0											0													155	141	146					5																	131006239		2203	4300	6503	SO:0001583	missense	0			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.3025G>A	5.37:g.131006239C>T	ENSP00000421985:p.Val1009Met		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	NULL	p.V1009M	ENST00000510461.1	37	c.3025	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693854	0.30052	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.13901	2.55;2.55;2.56	6.02	6.02	0.97574	.	.	.	.	.	T	0.12305	0.0299	N	0.21282	0.65	0.80722	D	1	B;P	0.37731	0.302;0.607	B;B	0.38921	0.285;0.28	T	0.14337	-1.0476	9	0.11794	T	0.64	-6.54	20.5373	0.99239	0.0:1.0:0.0:0.0	.	981;1009	Q8TF40-3;Q8TF40	.;FNIP1_HUMAN	M	981;964;761;1009	ENSP00000309266:V981M;ENSP00000310453:V964M;ENSP00000421985:V1009M	ENSP00000310453:V964M	V	-	1	0	FNIP1	131034138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.378000	0.79679	2.857000	0.98124	0.650000	0.86243	GTG	0	NULL		0.478	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	protein_coding	OTTHUMT00000370077.1	123	167	0.81	0.00	1	0	C	NM_133372	0	0		131006239	-1	no_errors	ENST00000510461	ensembl	human	known	74_37	missense	58	154	23.08	19.37	18	37	SNP	1	T	T	131006239	C	T	131006239	3	4	89	1	0	0	0	0	1	0	0	0	5975	478	17	3	491	3	FNIP1	5	131006239	Missense_Mutation	SNP	C	TCGA-YT-A95F-01A-11D-A428-09		131006239	49909021	3	1074											
HEBP2	23593	genome.wustl.edu	37	chr6	138726307	138726307	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttatgagatccgacactAtggaccagccaagtgggtca	13	8	11	9	1	1	1	1	1	0	1	2	4	2	2	3	2	1	1	3	2	4	2			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr6:138726307A>G	ENST00000607197.1	+	2	405	c.128A>G	c.(127-129)tAt>tGt	p.Y43C	HEBP2_ENST00000367697.3_Missense_Mutation_p.Y43C|HEBP2_ENST00000448741.1_Missense_Mutation_p.Y54C	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	43					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)		ATCCGACACTATGGACCAGCC	0.488																																							0											0													127	125	126					6																	138726307		2203	4300	6503	SO:0001583	missense	0			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.128A>G	6.37:g.138726307A>G	ENSP00000475750:p.Tyr43Cys		Q96P57	Missense_Mutation	SNP	pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom	p.Y43C	ENST00000607197.1	37	c.128	CCDS5191.1	6	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481828	0.84747	.	.	ENSG00000051620	ENST00000448741;ENST00000058691;ENST00000367697	T;T;T	0.40476	1.03;1.03;1.03	5.11	5.11	0.69529	Regulatory factor, effector, bacterial (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	M	0.88031	2.925	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	T	0.70375	-0.4889	10	0.66056	D	0.02	.	12.4296	0.55567	1.0:0.0:0.0:0.0	.	43	Q9Y5Z4	HEBP2_HUMAN	C	54;43;43	ENSP00000392101:Y54C;ENSP00000058691:Y43C;ENSP00000356670:Y43C	ENSP00000058691:Y43C	Y	+	2	0	HEBP2	138768000	1.000000	0.71417	0.985000	0.45067	0.985000	0.73830	3.611000	0.54132	1.925000	0.55765	0.454000	0.30748	TAT	0	pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom		0.488	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEBP2	protein_coding	OTTHUMT00000042426.2	78	164	1.27	0.00	1	0	A		0	0		138726307	1	no_errors	ENST00000607197	ensembl	human	known	74_37	missense	53	192	18.46	15.35	12	35	SNP	1	G	G	138726307	A	G	138726307	3	3	89	1	0	0	0	0	1	0	0	0	7037	449	16	3	134	3	HEBP2	6	138726307	Missense_Mutation	SNP	A	TCGA-YT-A95F-01A-11D-A428-09		138726307	32388760	4	1075											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	438	79	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	287	102	17.77	23.31	62	31	SNP	1	A	A	74146970	T	A	74146970	3	1	89	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-YT-A95F-01A-11D-A428-09		74146970	84991693	5	1076											
SVEP1	79987	genome.wustl.edu	37	chr9	113259212	113259212	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatttgaggagcctccacGtctaactcagaaaaatacac	14	10	7	10	1	2	3	1	2	1	1	3	4	3	4	2	1	3	0	2	1	4	4	rs75422692	byFrequency	TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr9:113259212G>A	ENST00000401783.2	-	8	2019	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	SVEP1_ENST00000374469.1_Splice_Site_p.D538D|SVEP1_ENST00000302728.8_Splice_Site_p.D561D|SVEP1_ENST00000374461.1_Splice_Site_p.D538D|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	561	HYR 1. {ECO:0000255|PROSITE- ProRule:PRU00113}.|Sushi 3. {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						GAGCCTCCACGTCTAACTCAG	0.393													G|||	2	0.000399361	0	0	5008	,	,		20613	0.001		0.001	False		,,,				2504	0						0.9996,0.0003994											0								G		1,3707		0,1,1853	58	50	53		1683	-0.9	1	9	dbSNP_131	53	0,8072		0,0,4036	no	coding-synonymous-near-splice	SVEP1	NM_153366.3		0,1,5889	AA,AG,GG		0.0,0.027,0.0085		561/3572	113259212	1,11779	1854	4036	5890	SO:0001630	splice_region_variant	0			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.1682-1C>T	9.37:g.113259212G>A			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	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.D561	ENST00000401783.2	37	c.1683	CCDS48004.1	9																																																																																			0	pfam_Hyalin,pfscan_Hyalin,pfscan_Sushi_SCR_CCP		0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	protein_coding		71	130	0	0.00	0	0	G		rs75422692	G->A	Silent	113259212	-1	no_errors	ENST00000401783	ensembl	human	known	74_37	silent	37	161	26	17.01	13	33	SNP	0.99	A	A	113259212	G	A	113259212	5	1	89	1	0	0	0	0	0	0	1	0	15417	1159	40	1	9196	1	SVEP1	9	113259212	Splice_Site	SNP	G	TCGA-YT-A95F-01A-11D-A428-09		113259212	27954219	6	1077											
ENKUR	219670	genome.wustl.edu	37	chr10	25304802	25304802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacatacctaggaggctgggGaggctccttcaagtcactgg	9	8	13	11	0	2	0	2	0	0	0	3	2	3	2	2	6	1	2	2	6	3	3			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr10:25304802G>A	ENST00000331161.4	-	1	283	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	ENKUR_ENST00000376363.1_Missense_Mutation_p.P22S|THNSL1_ENST00000524413.1_5'Flank|THNSL1_ENST00000376356.4_5'Flank	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	22						motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GGAGGCTGGGGAGGCTCCTTC	0.408																																							0											0													116	109	111					10																	25304802		2203	4300	6503	SO:0001583	missense	0			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.64C>T	10.37:g.25304802G>A	ENSP00000331044:p.Pro22Ser		A8K8Y0|D3DRV2	Missense_Mutation	SNP	NULL	p.P22S	ENST00000331161.4	37	c.64	CCDS7146.1	10	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356583	0.24598	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	6.17	2.96	0.34315	.	0.724115	0.15017	N	0.285218	T	0.24851	0.0603	L	0.28274	0.84	0.22796	N	0.998723	B	0.18741	0.03	B	0.17979	0.02	T	0.12915	-1.0529	9	0.17832	T	0.49	-5.6683	5.7366	0.18069	0.0733:0.3582:0.4407:0.1278	.	22	Q8TC29	ENKUR_HUMAN	S	22	.	ENSP00000331044:P22S	P	-	1	0	ENKUR	25344808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.892000	0.28322	1.586000	0.49944	0.655000	0.94253	CCC	0	NULL		0.408	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENKUR	protein_coding	OTTHUMT00000047239.2	63	143	0	0.00	0	0	G	NM_145010	0	0		25304802	-1	no_errors	ENST00000331161	ensembl	human	known	74_37	missense	23	158	28.12	11.60	9	21	SNP	0.95	A	A	25304802	G	A	25304802	3	1	89	1	0	0	0	0	1	0	0	0	5120	1174	41	3	730	3	ENKUR	10	25304802	Missense_Mutation	SNP	G	TCGA-YT-A95F-01A-11D-A428-09		25304802	110229945	7	1078											
EPC1	80314	genome.wustl.edu	37	chr10	32582521	32582521	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacaaatgaagttgtaccTgctgaccactgcctttttct	10	15	6	10	0	1	2	0	2	1	0	1	2	1	2	3	0	4	3	3	0	5	6			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr10:32582521T>A	ENST00000263062.8	-	3	727	c.458A>T	c.(457-459)cAg>cTg	p.Q153L	EPC1_ENST00000375110.2_Splice_Site_p.Q103L|EPC1_ENST00000319778.6_Splice_Site_p.Q153L	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	153					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)				AAGTTGTACCTGCTGACCACT	0.368																																							0											0													61	61	61					10																	32582521		2203	4300	6503	SO:0001630	splice_region_variant	0			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.459+1A>T	10.37:g.32582521T>A			B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.Q153L	ENST00000263062.8	37	c.458	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746873	0.89663	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	M	0.83118	2.625	0.80722	D	1	P;D;D;B	0.76494	0.885;0.996;0.999;0.23	P;D;D;B	0.77557	0.621;0.99;0.99;0.118	T	0.83192	-0.0083	9	0.59425	D	0.04	-8.4767	15.9001	0.79365	0.0:0.0:0.0:1.0	.	153;103;153;153	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	L	103;153;153	.	ENSP00000263062:Q153L	Q	-	2	0	EPC1	32622527	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.040000	0.89188	2.162000	0.67917	0.383000	0.25322	CAG	0	NULL		0.368	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	protein_coding	OTTHUMT00000047484.1	26	174	0	0.57	0	1	T		0	0	Missense_Mutation	32582521	-1	no_errors	ENST00000263062	ensembl	human	known	74_37	missense	22	194	12	23.62	3	60	SNP	1	A	A	32582521	T	A	32582521	5	1	89	1	0	0	0	0	0	0	1	0	5160	1594	55	5	2104	5	EPC1	10	32582521	Splice_Site	SNP	T	TCGA-YT-A95F-01A-11D-A428-09	7277719	32582521	102952226	8	1079											
RGR	5995	genome.wustl.edu	37	chr10	86007481	86007481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcctgaatgccctcgttGcagccacatccagccttctc	7	10	7	17	1	2	1	1	1	1	0	5	1	3	1	5	0	5	2	5	0	1	2			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr10:86007481G>C	ENST00000359452.4	+	2	252	c.214G>C	c.(214-216)Gca>Cca	p.A72P	RGR_ENST00000358110.5_Missense_Mutation_p.A72P|RGR_ENST00000372092.3_Missense_Mutation_p.C55S	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	72					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						TGCCCTCGTTGCAGCCACATC	0.662																																					NSCLC(15;204 545 5889 6385 32445)		0											0													84	77	80					10																	86007481		2203	4300	6503	SO:0001583	missense	0			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.214G>C	10.37:g.86007481G>C	ENSP00000352427:p.Ala72Pro		A6NKK7|Q96FC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR,prints_GPCR_Rhodpsn	p.A72P	ENST00000359452.4	37	c.214	CCDS7374.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.347809|4.347809	0.82022|0.82022	.|.	.|.	ENSG00000148604|ENSG00000148604	ENST00000359452;ENST00000358110|ENST00000372092	T;T|.	0.71934|.	-0.61;-0.61|.	4.33|4.33	4.33|4.33	0.51752|0.51752	GPCR, rhodopsin-like superfamily (1);|.	0.053985|.	0.64402|.	D|.	0.000001|.	T|T	0.61751|0.61751	0.2372|0.2372	M|M	0.74258|0.74258	2.255|2.255	0.58432|0.58432	D|D	0.999999|0.999999	P;D;P|P	0.89917|0.36535	0.877;1.0;0.95|0.557	P;D;P|B	0.91635|0.31101	0.722;0.999;0.862|0.124	T|T	0.71220|0.71220	-0.4657|-0.4657	10|8	0.31617|0.87932	T|D	0.26|0	.|.	16.4931|16.4931	0.84207|0.84207	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	72;72;72|55	P47804-3;P47804-2;P47804|Q96HT6	.;.;RGR_HUMAN|.	P|S	72|55	ENSP00000352427:A72P;ENSP00000350823:A72P|.	ENSP00000350823:A72P|ENSP00000361164:C55S	A|C	+|+	1|2	0|0	RGR|RGR	85997461|85997461	1.000000|1.000000	0.71417|0.71417	0.093000|0.093000	0.20910|0.20910	0.806000|0.806000	0.45545|0.45545	6.930000|6.930000	0.75858|0.75858	2.344000|2.344000	0.79699|0.79699	0.591000|0.591000	0.81541|0.81541	GCA|TGC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.662	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	protein_coding	OTTHUMT00000049116.1	39	70	0	0.00	0	0	G	NM_002921	0	0		86007481	1	no_errors	ENST00000359452	ensembl	human	known	74_37	missense	36	72	16.28	21.74	7	20	SNP	0.972	C	C	86007481	G	C	86007481	3	2	89	1	0	0	0	0	1	0	0	0	13291	1319	46	5	220	5	RGR	10	86007481	Missense_Mutation	SNP	G	TCGA-YT-A95F-01A-11D-A428-09	53424960	86007481	49527266	9	1080											
TMEM223	79064	genome.wustl.edu	37	chr11	62559355	62559355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcggccccgatcatgctCaaagagcagcacatcccgtt	11	6	10	14	3	2	1	2	0	0	1	3	3	3	1	3	1	4	4	3	1	2	1			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr11:62559355C>G	ENST00000307366.7	-	1	138	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000527073.1_5'Flank|TMEM223_ENST00000525631.1_Missense_Mutation_p.E38Q	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	38						integral component of membrane (GO:0016021)											CGATCATGCTCAAAGAGCAGC	0.692																																							0											0													19	27	24					11																	62559355		1981	4148	6129	SO:0001583	missense	0				CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.112G>C	11.37:g.62559355C>G	ENSP00000303987:p.Glu38Gln		Q504S0|Q86YD4|Q8WUC5|Q96HG0	Missense_Mutation	SNP	NULL	p.E38Q	ENST00000307366.7	37	c.112	CCDS44628.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.715946|1.715946	0.30413|0.30413	.|.	.|.	ENSG00000168569|ENSG00000168569	ENST00000525631;ENST00000307366|ENST00000528367	T;T|.	0.45276|.	0.9;0.9|.	5.94|5.94	0.624|0.624	0.17659|0.17659	.|.	0.532156|.	0.19758|.	N|.	0.106733|.	T|.	0.61185|.	0.2327|.	M|M	0.66939|0.66939	2.045|2.045	0.39210|0.39210	D|D	0.963307|0.963307	B|.	0.27166|.	0.17|.	B|.	0.26202|.	0.067|.	T|.	0.57619|.	-0.7780|.	9|.	.|.	.|.	.|.	-7.0937|-7.0937	8.8942|8.8942	0.35453|0.35453	0.0:0.4681:0.3939:0.138|0.0:0.4681:0.3939:0.138	.|.	38|.	A0PJW6|.	TM223_HUMAN|.	Q|S	38|37	ENSP00000436670:E38Q;ENSP00000303987:E38Q|.	.|.	E|X	-|-	1|2	0|2	TMEM223|TMEM223	62315931|62315931	0.764000|0.764000	0.28473|0.28473	0.906000|0.906000	0.35671|0.35671	0.102000|0.102000	0.19082|0.19082	-0.154000|-0.154000	0.10130|0.10130	-0.122000|-0.122000	0.11766|0.11766	-0.291000|-0.291000	0.09656|0.09656	GAG|TGA	0	NULL		0.692	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM223	protein_coding	OTTHUMT00000395674.1	26	36	0	0.00	0	0	C		0	0		62559355	-1	no_errors	ENST00000307366	ensembl	human	known	74_37	missense	16	35	20	14.63	4	6	SNP	0.999	G	G	62559355	C	G	62559355	3	3	89	1	0	0	0	0	1	0	0	0	16143	835	29	5	504	5	TMEM223	11	62559355	Missense_Mutation	SNP	C	TCGA-YT-A95F-01A-11D-A428-09		62559355	72447161	10	1081											
SCYL2	55681	genome.wustl.edu	37	chr12	100691878	100691878	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttggtaactgggaaaaTctaccttcccctatatctcc	9	14	6	12	0	3	0	0	0	3	0	5	1	4	1	4	2	2	2	4	2	6	7			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr12:100691878T>C	ENST00000360820.2	+	4	842	c.405T>C	c.(403-405)aaT>aaC	p.N135N		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						ACTGGGAAAATCTACCTTCCC	0.318																																							0											0													67	66	66					12																	100691878		2202	4297	6499	SO:0001819	synonymous_variant	0			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.405T>C	12.37:g.100691878T>C			A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	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.N135	ENST00000360820.2	37	c.405	CCDS9076.1	12																																																																																			0	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	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL2	protein_coding	OTTHUMT00000408493.2	135	118	0	0.00	0	0	T	NM_017988	0	0		100691878	1	no_errors	ENST00000360820	ensembl	human	known	74_37	silent	93	112	11.43	18.25	12	25	SNP	0.995	C	C	100691878	T	C	100691878	2	2	89	1	0	0	0	0	0	0	0	1	13948	1432	50	3		3	SCYL2	12	100691878	Silent	SNP	T	TCGA-YT-A95F-01A-11D-A428-09		100691878	33160017	11	1082											
ZNF208	7757	genome.wustl.edu	37	chr19	22154191	22154191	+	Silent	SNP	G	G	A																															tctccagtatgaattttcttGtgatatctaagggttgaggg																								rs542502577	byFrequency	TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr19:22154191G>A	ENST00000397126.4	-	4	3793	c.3645C>T	c.(3643-3645)caC>caT	p.H1215H	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1215					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)				GAATTTTCTTGTGATATCTAA	0.378													g|||	2	0.000399361	0	0	5008	,	,		21240	0.002		0	False		,,,				2504	0						0.9996,0.0003994											0													38	41	40					19																	22154191		2104	4246	6350	SO:0001819	synonymous_variant	0			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.3645C>T	19.37:g.22154191G>A				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.H1215	ENST00000397126.4	37	c.3645	CCDS54240.1	19																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	protein_coding	OTTHUMT00000464302.1	67	1	0	0.00	0	0	G	NM_007153	rs542502577	G->A		22154191	-1	no_errors	ENST00000397126	ensembl	human	novel	74_37	silent	32	1	10.81	0.00	4	0	SNP	0.339	A	A	22154191	G	A	22154191	2	1	89	1	0	0	0	0	0	0	0	1	17763	1368	48	3		3	ZNF208	19	22154191	Silent	SNP	G	TCGA-YT-A95F-01A-11D-A428-09		22154191	36974792	12	1083	6	2									
ZNF208	7757	genome.wustl.edu	37	chr19	22154197	22154197	+	Missense_Mutation	SNP	T	T	A																															gtatgaattttcttgtgataTctaagggttgagggccactt																								rs560585093		TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chr19:22154197T>A	ENST00000397126.4	-	4	3787	c.3639A>T	c.(3637-3639)agA>agT	p.R1213S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1213					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)				TCTTGTGATATCTAAGGGTTG	0.378													t|||	1	0.000199681	0	0	5008	,	,		21180	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0													38	41	40					19																	22154197		2105	4245	6350	SO:0001583	missense	0			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.3639A>T	19.37:g.22154197T>A	ENSP00000380315:p.Arg1213Ser			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.R1213S	ENST00000397126.4	37	c.3639	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	1.113	-0.657555	0.03480	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.39592	1.07	3.22	-6.43	0.01926	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26292	-1.0107	8	0.07175	T	0.84	.	1.5662	0.02605	0.2343:0.1042:0.1711:0.4905	.	1085	O43345	ZN208_HUMAN	S	1213;1085	ENSP00000380315:R1213S	ENSP00000380315:R1213S	R	-	3	2	ZNF208	21946037	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.047000	0.00306	-1.840000	0.01184	-1.063000	0.02288	AGA	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	protein_coding	OTTHUMT00000464302.1	69	1	0	0.00	0	0	T	NM_007153	rs560585093	T->A		22154197	-1	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	42	1	8.7	0.00	4	0	SNP	0	A	A	22154197	T	A	22154197	3	1	89	1	0	0	0	0	1	0	0	0	17763	1432	50	5	207	5	ZNF208	19	22154197	Missense_Mutation	SNP	T	TCGA-YT-A95F-01A-11D-A428-09	6	22154197	36974786	13	1084	6	2									
IQSEC2	23096	genome.wustl.edu	37	chrX	53272536	53272536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttctttccaacaatcatgCgctccacagcctgcacctgg	8	11	7	15	1	2	0	1	0	1	0	4	0	4	0	4	1	4	3	4	1	2	2			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chrX:53272536C>T	ENST00000375368.5	-	8	3037	c.2837G>A	c.(2836-2838)cGc>cAc	p.R946H	IQSEC2_ENST00000396435.3_Missense_Mutation_p.R956H|IQSEC2_ENST00000375365.2_Missense_Mutation_p.R751H			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	946	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						aACAATCATGCGCTCCACAGC	0.597																																							0											0													74	53	60					X																	53272536		2086	3992	6078	SO:0001583	missense	0			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.2837G>A	X.37:g.53272536C>T	ENSP00000364517:p.Arg946His		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.R956H	ENST00000375368.5	37	c.2867		X	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852885	0.91355	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.13196	2.62;2.61;2.65	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	L	0.55481	1.735	0.58432	D	0.999999	D;D	0.57571	0.98;0.97	P;P	0.50490	0.553;0.642	T	0.00800	-1.1561	10	0.72032	D	0.01	.	16.9544	0.86254	0.0:1.0:0.0:0.0	.	956;751	Q5JU85-2;Q5JU85-3	.;.	H	956;946;751	ENSP00000379712:R956H;ENSP00000364517:R946H;ENSP00000364514:R751H	ENSP00000364514:R751H	R	-	2	0	IQSEC2	53289261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.447000	0.44917	2.354000	0.79902	0.589000	0.80489	CGC	0	NULL		0.597	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	protein_coding		25	100	0	0.00	0	0	C	XM_291345	0	0		53272536	-1	no_errors	ENST00000396435	ensembl	human	known	74_37	missense	13	91	18.75	25.41	3	31	SNP	1	T	T	53272536	C	T	53272536	3	4	89	1	0	0	0	0	1	0	0	0	7818	768	27	1	1627	1	IQSEC2	23	53272536	Missense_Mutation	SNP	C	TCGA-YT-A95F-01A-11D-A428-09		53272536	101998024	14	1085											
TBC1D8B	54885	genome.wustl.edu	37	chrX	106064109	106064109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgttattaatcaggaGccaacagagaagaaataacc	16	10	8	7	0	2	2	1	0	1	2	2	4	2	3	2	1	3	1	2	1	6	4			TCGA-YT-A95F-01A-11D-A428-09	TCGA-YT-A95F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c7c91b7-5b7f-4531-849d-2b85635b3e6e	9b6e27a6-3a33-4a1e-b627-efa66d59382e	g.chrX:106064109G>A	ENST00000357242.5	+	3	418	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.A82T|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.A82T|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.A82T	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	82							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						TTAATCAGGAGCCAACAGAGA	0.274																																							0											0													56	53	54					X																	106064109		2202	4298	6500	SO:0001583	missense	0			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.244G>A	X.37:g.106064109G>A	ENSP00000349781:p.Ala82Thr		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.A82T	ENST00000357242.5	37	c.244	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711166	0.48517	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.14	4.26	0.50523	.	0.066769	0.64402	D	0.000013	T	0.27205	0.0667	L	0.31664	0.95	0.47778	D	0.999517	P;D;P	0.58620	0.952;0.983;0.877	P;P;B	0.60949	0.536;0.881;0.339	T	0.02093	-1.1215	10	0.14656	T	0.56	-3.8376	12.8793	0.58008	0.0:0.0:0.836:0.164	.	82;82;82	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	T	82	ENSP00000349781:A82T;ENSP00000310675:A82T;ENSP00000421375:A82T;ENSP00000276175:A82T	ENSP00000276175:A82T	A	+	1	0	TBC1D8B	105950765	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.493000	0.60341	1.011000	0.39340	0.415000	0.27848	GCC	0	NULL		0.274	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	protein_coding	OTTHUMT00000057807.2	306	207	0	0.00	0	0	G	NM_017752	0	0		106064109	1	no_errors	ENST00000357242	ensembl	human	known	74_37	missense	160	188	20.4	21.67	41	52	SNP	1	A	A	106064109	G	A	106064109	3	1	89	1	0	0	0	0	1	0	0	0	15623	971	34	3	254	3	TBC1D8B	23	106064109	Missense_Mutation	SNP	G	TCGA-YT-A95F-01A-11D-A428-09	52791573	106064109	49206451	15	1086											
RBAK	57786	genome.wustl.edu	37	chr7	5104287	5104287	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcacacgggagagaagctTtataaatgtaatgaatgtgg	15	10	11	5	1	1	2	1	1	0	1	1	4	1	3	0	2	1	2	0	2	6	4			TCGA-YT-A95G-01A-11D-A428-09	TCGA-YT-A95G-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0a9bee25-52ee-4f84-a427-fde2e33be3af	3a465c7f-e359-471f-824c-ee4801836e8c	g.chr7:5104287T>G	ENST00000353796.3	+	6	1524	c.1200T>G	c.(1198-1200)ctT>ctG	p.L400L	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Silent_p.L400L|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	400					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)		GAGAGAAGCTTTATAAATGTA	0.463																																							0											0													71	72	72					7																	5104287		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1200T>G	7.37:g.5104287T>G			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.L400	ENST00000353796.3	37	c.1200	CCDS5337.1	7																																																																																			0	pfscan_Znf_C2H2		0.463	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	protein_coding	OTTHUMT00000241640.2	40	169	0	0.00	0	0	T	NM_021163	0	0		5104287	1	no_errors	ENST00000353796	ensembl	human	known	74_37	silent	50	125	15.25	9.42	9	13	SNP	0.552	G	G	5104287	T	G	5104287	2	3	90	1	0	0	0	0	0	0	0	1	13100	1828	64	5		5	RBAK	7	5104287	Silent	SNP	T	TCGA-YT-A95G-01A-11D-A428-09		5104287	154034376	1	1087											
DNAH11	8701	genome.wustl.edu	37	chr7	21723504	21723504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtgatgcccagttccagTacttctatgaatacttagga	10	15	8	8	0	1	2	0	2	1	0	2	3	2	3	2	1	3	2	2	1	5	7			TCGA-YT-A95G-01A-11D-A428-09	TCGA-YT-A95G-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0a9bee25-52ee-4f84-a427-fde2e33be3af	3a465c7f-e359-471f-824c-ee4801836e8c	g.chr7:21723504T>C	ENST00000409508.3	+	32	5594	c.5563T>C	c.(5563-5565)Tac>Cac	p.Y1855H	DNAH11_ENST00000328843.6_Missense_Mutation_p.Y1862H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1862	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						CCAGTTCCAGTACTTCTATGA	0.438									Kartagener syndrome																														0											0													198	182	187					7																	21723504		1882	4101	5983	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5563T>C	7.37:g.21723504T>C	ENSP00000475939:p.Tyr1855His		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.Y1862H	ENST00000409508.3	37	c.5584		7	.	.	.	.	.	.	.	.	.	.	T	27.6	4.847849	0.91277	.	.	ENSG00000105877	ENST00000328843	T	0.14893	2.47	5.93	5.93	0.95920	.	0.124256	0.56097	D	0.000030	T	0.44850	0.1313	.	.	.	0.52099	D	0.999947	D	0.89917	1.0	D	0.76071	0.987	T	0.44205	-0.9343	9	0.87932	D	0	.	16.049	0.80744	0.0:0.0:0.0:1.0	.	1862	Q96DT5	DYH11_HUMAN	H	1862	ENSP00000330671:Y1862H	ENSP00000330671:Y1862H	Y	+	1	0	DNAH11	21690029	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.250000	0.72435	2.270000	0.75569	0.460000	0.39030	TAC	0	NULL		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	84	230	0	0.00	0	0	T	NM_003777	0	0		21723504	1	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	87	168	9.38	11.11	9	21	SNP	1	C	C	21723504	T	C	21723504	3	2	90	1	0	0	0	0	1	0	0	0	4599	1638	57	3	5711	3	DNAH11	7	21723504	Missense_Mutation	SNP	T	TCGA-YT-A95G-01A-11D-A428-09	16619217	21723504	137415159	2	1088											
TH	7054	genome.wustl.edu	37	chr11	2185541	2185541	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggagcgccgcacggcctgGgggctgtccagcacgtcgat	6	5	17	13	5	0	0	0	0	0	0	2	2	1	1	3	4	2	3	3	4	0	0			TCGA-YT-A95G-01A-11D-A428-09	TCGA-YT-A95G-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0a9bee25-52ee-4f84-a427-fde2e33be3af	3a465c7f-e359-471f-824c-ee4801836e8c	g.chr11:2185541G>A	ENST00000381178.1	-	14	1527	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	INS_ENST00000381330.4_5'Flank|TH_ENST00000352909.3_Silent_p.P472P|TH_ENST00000333684.5_Silent_p.P382P|TH_ENST00000381175.1_Silent_p.P499P	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	503					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)	GCACGGCCTGGGGGCTGTCCA	0.677																																							0											0													60	53	55					11																	2185541		2200	4297	6497	SO:0001819	synonymous_variant	0			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.1509C>T	11.37:g.2185541G>A			B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	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.P503	ENST00000381178.1	37	c.1509	CCDS7731.1	11																																																																																			0	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase		0.677	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	protein_coding	OTTHUMT00000026597.1	31	33	0	0.00	0	0	G	NM_000360	0	0		2185541	-1	no_errors	ENST00000381178	ensembl	human	known	74_37	silent	66	44	18.52	8.33	15	4	SNP	0.978	A	A	2185541	G	A	2185541	2	1	90	1	0	0	0	0	0	0	0	1	15835	1219	43	3		3	TH	11	2185541	Silent	SNP	G	TCGA-YT-A95G-01A-11D-A428-09		2185541	132820975	3	1089											
SOX5	6660	genome.wustl.edu	37	chr12	23818447	23818447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagctgcagccagtgtccGttgatcaggagggaatacgg	9	7	16	9	2	1	1	1	1	0	0	2	3	2	3	2	4	4	4	2	4	2	2	rs557463084		TCGA-YT-A95G-01A-11D-A428-09	TCGA-YT-A95G-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0a9bee25-52ee-4f84-a427-fde2e33be3af	3a465c7f-e359-471f-824c-ee4801836e8c	g.chr12:23818447G>A	ENST00000451604.2	-	7	963	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	SOX5_ENST00000541536.1_Missense_Mutation_p.R275W|SOX5_ENST00000309359.1_Missense_Mutation_p.R275W|SOX5_ENST00000381381.2_Missense_Mutation_p.R275W|SOX5_ENST00000537393.1_Missense_Mutation_p.R253W|SOX5_ENST00000546136.1_Missense_Mutation_p.R275W|SOX5_ENST00000545921.1_Missense_Mutation_p.R278W			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	288					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.R288W(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						GCCAGTGTCCGTTGATCAGGA	0.498													G|||	1	0.000199681	8e-04	0	5008	,	,		17651	0		0	False		,,,				2504	0						0.9998,0.0001997											1	Substitution - Missense(1)	kidney(1)											128	128	128					12																	23818447		2203	4300	6503	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.862C>T	12.37:g.23818447G>A	ENSP00000398273:p.Arg288Trp		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.R288W	ENST00000451604.2	37	c.862	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908764	0.72868	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.97688	-4.48;-4.48;-4.38;-4.49;-4.45;-4.38;-4.48	5.34	4.43	0.53597	.	0.165410	0.49916	D	0.000132	D	0.98441	0.9481	M	0.77313	2.365	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.988;1.0	D	0.99353	1.0915	10	0.87932	D	0	.	13.1329	0.59393	0.0:0.0:0.709:0.291	.	253;275;288	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	W	275;275;275;288;240;253;275;278	ENSP00000437487:R275W;ENSP00000308927:R275W;ENSP00000370788:R275W;ENSP00000398273:R288W;ENSP00000439832:R253W;ENSP00000441973:R275W;ENSP00000443520:R278W	ENSP00000308927:R275W	R	-	1	2	SOX5	23709714	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.698000	0.54771	1.434000	0.47414	0.655000	0.94253	CGG	0	NULL		0.498	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	protein_coding	OTTHUMT00000402006.2	103	78	0	0.00	0	0	G	NM_006940	rs557463084	G->A		23818447	-1	no_errors	ENST00000451604	ensembl	human	known	74_37	missense	78	63	15.22	4.55	14	3	SNP	1	A	A	23818447	G	A	23818447	3	1	90	1	0	0	0	0	1	0	0	0	14954	1144	40	1	1475	1	SOX5	12	23818447	Missense_Mutation	SNP	G	TCGA-YT-A95G-01A-11D-A428-09		23818447	110033448	4	1090											
KRT3	3850	genome.wustl.edu	37	chr12	53183951	53183951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagagatggagccaaagcCgctgccaccgctgaaaccgc	11	3	12	15	3	0	2	0	1	0	1	0	4	0	3	6	1	4	2	6	1	2	0	rs570613061|rs60125653	byFrequency	TCGA-YT-A95G-01A-11D-A428-09	TCGA-YT-A95G-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0a9bee25-52ee-4f84-a427-fde2e33be3af	3a465c7f-e359-471f-824c-ee4801836e8c	g.chr12:53183951C>T	ENST00000417996.2	-	9	1836	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	KRT3_ENST00000309505.3_Missense_Mutation_p.G589S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	588	Gly-rich.|Tail.				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						GAGCCAAAgccgctgccaccg	0.697																																							0											0													14	31	25					12																	53183951		1574	3123	4697	SO:0001583	missense	0				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.1762G>A	12.37:g.53183951C>T	ENSP00000413479:p.Gly588Ser		A6NIS2|Q701L8	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.G589S	ENST00000417996.2	37	c.1765	CCDS44895.1	12	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307617	0.40795	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.91351	-2.83;-2.83	3.4	-1.34	0.09143	.	0.507655	0.14827	N	0.296110	T	0.80149	0.4570	N	0.22421	0.69	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.65302	-0.6201	10	0.34782	T	0.22	.	7.4497	0.27231	0.0:0.4872:0.0:0.5128	.	588	P12035	K2C3_HUMAN	S	588;589	ENSP00000413479:G588S;ENSP00000312206:G589S	ENSP00000312206:G589S	G	-	1	0	KRT3	51470218	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.682000	0.01935	-0.284000	0.09102	-0.258000	0.10820	GGC	0	NULL		0.697	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	protein_coding	OTTHUMT00000405930.1	20	27	0	0.00	0	0	C	NM_057088	0	0		53183951	-1	no_errors	ENST00000309505	ensembl	human	known	74_37	missense	24	25	17.24	16.67	5	5	SNP	0.004	T	T	53183951	C	T	53183951	3	4	90	1	0	0	0	0	1	0	0	0	8466	652	23	2	128	2	KRT3	12	53183951	Missense_Mutation	SNP	C	TCGA-YT-A95G-01A-11D-A428-09	29365504	53183951	80667944	5	1091											
MED13L	23389	genome.wustl.edu	37	chr12	116445404	116445404	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactggggctgtttgtcttGccagattttaaaccgtttgt	7	16	10	8	1	1	1	0	0	1	1	1	1	1	1	2	2	3	3	2	2	3	5			TCGA-YT-A95G-01A-11D-A428-09	TCGA-YT-A95G-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0a9bee25-52ee-4f84-a427-fde2e33be3af	3a465c7f-e359-471f-824c-ee4801836e8c	g.chr12:116445404G>A	ENST00000281928.3	-	11	2256	c.2050C>T	c.(2050-2052)Caa>Taa	p.Q684*		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	684						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)		TGTTTGTCTTGCCAGATTTTA	0.383																																							0											0													152	154	154					12																	116445404		2203	4300	6503	SO:0001587	stop_gained	0			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.2050C>T	12.37:g.116445404G>A	ENSP00000281928:p.Gln684*		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Nonsense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.Q684*	ENST00000281928.3	37	c.2050	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.712145	0.98447	.	.	ENSG00000123066	ENST00000281928	.	.	.	5.9	5.0	0.66597	.	0.530450	0.21739	N	0.069847	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	13.3093	0.60370	0.0:0.3763:0.6237:0.0	.	.	.	.	X	684	.	ENSP00000281928:Q684X	Q	-	1	0	MED13L	114929787	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.839000	0.55835	2.806000	0.96561	0.655000	0.94253	CAA	0	NULL		0.383	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	protein_coding	OTTHUMT00000403879.3	37	133	0	1.45	0	2	G		0	0		116445404	-1	no_errors	ENST00000281928	ensembl	human	known	74_37	nonsense	38	83	9.52	12.50	4	12	SNP	1	A	A	116445404	G	A	116445404	4	1	90	1	0	0	0	0	0	1	0	0	9431	1328	46	3	4666	3	MED13L	12	116445404	Nonsense_Mutation	SNP	G	TCGA-YT-A95G-01A-11D-A428-09	63261453	116445404	17406491	6	1092											
CYP1A2	1544	genome.wustl.edu	37	chr15	75047181	75047181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgagcggttcctcaccGccgatggcactgccattaac	7	8	11	15	3	1	1	1	1	0	0	2	2	2	1	5	3	3	2	5	3	1	2			TCGA-YT-A95G-01A-11D-A428-09	TCGA-YT-A95G-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0a9bee25-52ee-4f84-a427-fde2e33be3af	3a465c7f-e359-471f-824c-ee4801836e8c	g.chr15:75047181G>T	ENST00000343932.4	+	7	1366	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	435					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)"	GTTCCTCACCGCCGATGGCAC	0.602																																							0											0													89	86	87					15																	75047181		2197	4296	6493	SO:0001583	missense	0			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.1303G>T	15.37:g.75047181G>T	ENSP00000342007:p.Ala435Ser		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.A435S	ENST00000343932.4	37	c.1303	CCDS32293.1	15	.	.	.	.	.	.	.	.	.	.	G	4.710	0.132038	0.08981	.	.	ENSG00000140505	ENST00000343932	T	0.78595	-1.19	4.42	1.4	0.22301	.	0.797201	0.11860	N	0.522461	T	0.60792	0.2296	L	0.28192	0.835	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.44922	-0.9296	10	0.30854	T	0.27	.	4.2239	0.10572	0.259:0.0:0.5807:0.1603	.	435	P05177-2	.	S	435	ENSP00000342007:A435S	ENSP00000342007:A435S	A	+	1	0	CYP1A2	72834234	0.006000	0.16342	0.000000	0.03702	0.254000	0.26022	1.649000	0.37281	0.114000	0.18032	0.455000	0.32223	GCC	0	pfam_Cyt_P450,superfamily_Cyt_P450		0.602	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	protein_coding	OTTHUMT00000421263.2	52	102	0	0.00	0	0	G	NM_000761	0	0		75047181	1	no_errors	ENST00000343932	ensembl	human	known	74_37	missense	42	62	19.23	16.22	10	12	SNP	0.001	T	T	75047181	G	T	75047181	3	4	90	1	0	0	0	0	1	0	0	0	4150	1087	38	5	1325	5	CYP1A2	15	75047181	Missense_Mutation	SNP	G	TCGA-YT-A95G-01A-11D-A428-09		75047181	27484211	7	1093											
SETD1A	9739	genome.wustl.edu	37	chr16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-																															gcagctcttccagctcctcaTcctcctcctcctcctcgtcc																								rs531337171|rs569719496	byFrequency	TCGA-YT-A95G-01A-11D-A428-09	TCGA-YT-A95G-10A-01D-A42B-09	TCC	TCC	TCC	-	TCC	TCC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0a9bee25-52ee-4f84-a427-fde2e33be3af	3a465c7f-e359-471f-824c-ee4801836e8c	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											0																																										SO:0001651	inframe_deletion	0			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		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																																																																																			0	NULL		0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	protein_coding	OTTHUMT00000318244.2	30	44	0	0.00	0	0	TCC	NM_014712	0	0		30982811	1	no_errors	ENST00000262519	ensembl	human	known	74_37	in_frame_del	28	18	12.5	14.29	4	3	DEL	0.734:0.781:0.676	0	-	30982811	TCC	-	30982809	7	5	90	1	0	1	0	1	0	0	0	0	14130	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Del	DEL	TCC	TCGA-YT-A95G-01A-11D-A428-09		30982809	59371944	8	1094											
KRTAP4-8	728224	genome.wustl.edu	37	chr17	39254149	39254149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagctggggcgacagcagGtgggctggcagcacacagac	10	3	17	11	1	0	1	0	0	0	1	0	2	0	1	0	5	4	6	0	5	0	0	rs201246375		TCGA-YT-A95G-01A-11D-A428-09	TCGA-YT-A95G-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a9bee25-52ee-4f84-a427-fde2e33be3af	3a465c7f-e359-471f-824c-ee4801836e8c	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											0													7	10	9					17																	39254149		651	1515	2166	SO:0001583	missense	0			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		A8MSH3	Missense_Mutation	SNP	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	0	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	38	1	0	0.00	0	0	G	NM_031960	rs201246375	G->C		39254149	-1	no_errors	ENST00000333822	ensembl	human	known	74_37	missense	46	1	11.54	0.00	6	0	SNP	0.004	C	C	39254149	G	C	39254149	3	2	90	1	0	0	0	0	1	0	0	0	8556	1261	44	5	373	5	KRTAP4-8	17	39254149	Missense_Mutation	SNP	G	TCGA-YT-A95G-01A-11D-A428-09		39254149	41941061	9	1095											
KIAA1632	57724	genome.wustl.edu	37	chr18	43497645	43497645	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagatggaacacacttactGctcattcttcagaaggtaat	14	12	7	8	0	3	2	2	0	1	2	3	3	3	3	0	2	3	2	0	2	5	5			TCGA-YT-A95G-01A-11D-A428-09	TCGA-YT-A95G-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0a9bee25-52ee-4f84-a427-fde2e33be3af	3a465c7f-e359-471f-824c-ee4801836e8c	g.chr18:43497645G>A	ENST00000282041.5	-	17	3272	c.3238C>T	c.(3238-3240)Cag>Tag	p.Q1080*	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1080					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						CACACTTACTGCTCATTCTTC	0.393																																							0											0													170	159	162					18																	43497645		1875	4114	5989	SO:0001630	splice_region_variant	0			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.3239+1C>T	18.37:g.43497645G>A			A2BDF3|Q9H8C8	Nonsense_Mutation	SNP	NULL	p.Q1080*	ENST00000282041.5	37	c.3238	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	G	41	8.835591	0.98972	.	.	ENSG00000152223	ENST00000282041	.	.	.	5.4	5.4	0.78164	.	1.519390	0.03248	N	0.181384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-8.4738	19.5281	0.95214	0.0:0.0:1.0:0.0	.	.	.	.	X	1080	.	ENSP00000282041:Q1080X	Q	-	1	0	EPG5	41751643	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	7.064000	0.76721	2.696000	0.92011	0.655000	0.94253	CAG	0	NULL		0.393	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	protein_coding	OTTHUMT00000445081.1	78	234	0	0.00	0	0	G	NM_020964	0	0	Nonsense_Mutation	43497645	-1	no_errors	ENST00000282041	ensembl	human	known	74_37	nonsense	64	122	7.25	5.43	5	7	SNP	1	A	A	43497645	G	A	43497645	5	1	90	1	0	0	0	0	0	0	1	0	8249	1333	46	3	4613	3	KIAA1632	18	43497645	Splice_Site	SNP	G	TCGA-YT-A95G-01A-11D-A428-09		43497645	34579603	10	1096											
EIF3L	51386	genome.wustl.edu	37	chr22	38273724	38273724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatgcgctgctggccattgCcctcacgatgtaccccatgc	6	9	10	16	2	1	0	1	0	0	0	1	1	1	0	4	1	5	4	4	1	1	2			TCGA-YT-A95G-01A-11D-A428-09	TCGA-YT-A95G-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0a9bee25-52ee-4f84-a427-fde2e33be3af	3a465c7f-e359-471f-824c-ee4801836e8c	g.chr22:38273724C>T	ENST00000412331.2	+	11	1703	c.1121C>T	c.(1120-1122)gCc>gTc	p.A374V	EIF3L_ENST00000381683.6_Missense_Mutation_p.A326V|EIF3L_ENST00000406934.1_Missense_Mutation_p.A276V	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						CTGGCCATTGCCCTCACGATG	0.537																																							0											0													110	91	97					22																	38273724		2203	4300	6503	SO:0001583	missense	0			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.1121C>T	22.37:g.38273724C>T	ENSP00000416892:p.Ala374Val			Missense_Mutation	SNP	pfam_eIF3l	p.A374V	ENST00000412331.2	37	c.1121	CCDS13960.1	22	.	.	.	.	.	.	.	.	.	.	c	20.2	3.953787	0.73902	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.41758	0.99;0.99;0.99	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	L	0.48986	1.54	0.80722	D	1	B;B;B;B	0.26577	0.016;0.153;0.034;0.092	B;B;B;B	0.31101	0.038;0.124;0.038;0.065	T	0.37314	-0.9711	10	0.42905	T	0.14	-22.6175	18.1715	0.89746	0.0:1.0:0.0:0.0	.	326;276;374;417	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	V	374;417;326;341;276	ENSP00000416892:A374V;ENSP00000371099:A326V;ENSP00000384634:A276V	ENSP00000262832:A341V	A	+	2	0	EIF3L	36603670	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.037000	0.70956	2.333000	0.79357	0.436000	0.28706	GCC	0	pfam_eIF3l		0.537	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3L	protein_coding	OTTHUMT00000319551.2	54	32	0	0.00	0	0	C	NM_016091	0	0		38273724	1	no_errors	ENST00000412331	ensembl	human	known	74_37	missense	53	10	7.02	0.00	4	0	SNP	1	T	T	38273724	C	T	38273724	3	4	90	1	0	0	0	0	1	0	0	0	5022	739	26	3	1163	3	EIF3L	22	38273724	Missense_Mutation	SNP	C	TCGA-YT-A95G-01A-11D-A428-09		38273724	13030842	11	1097											
PPT1	5538	genome.wustl.edu	37	chr1	40558098	40558098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttcccaatctctaaaGataagacgtaaattccaggt	13	11	8	9	1	2	2	0	0	2	2	5	2	4	2	2	2	0	1	2	2	6	5			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr1:40558098G>T	ENST00000433473.3	-	2	670	c.206C>A	c.(205-207)tCt>tAt	p.S69Y	PPT1_ENST00000449045.2_Intron	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	69					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATCTCTAAAGATAAGACGTA	0.403																																							0											0													144	142	142					1																	40558098		2203	4300	6503	SO:0001583	missense	0			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 1, infantile"	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.206C>A	1.37:g.40558098G>T	ENSP00000394863:p.Ser69Tyr		B4DY24|Q6FGQ4	Missense_Mutation	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.S69Y	ENST00000433473.3	37	c.206	CCDS447.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286599	0.80803	.	.	ENSG00000131238	ENST00000433473;ENST00000372779;ENST00000526547	D;D;D	0.97430	-4.38;-4.38;-4.38	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.98977	1.0803	10	0.10636	T	0.68	-17.434	18.14	0.89636	0.0:0.0:1.0:0.0	.	19;69	B4DWU3;P50897	.;PPT1_HUMAN	Y	69;98;19	ENSP00000394863:S69Y;ENSP00000361865:S98Y;ENSP00000436481:S19Y	ENSP00000361865:S98Y	S	-	2	0	PPT1	40330685	1.000000	0.71417	0.881000	0.34555	0.955000	0.61496	9.072000	0.93986	2.693000	0.91896	0.650000	0.86243	TCT	0	pfam_Palm_thioest,prints_Palm_thioest		0.403	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT1	protein_coding	OTTHUMT00000013126.2	59	671	0	0.00	0	0	G	NM_000310	0	0		40558098	-1	no_errors	ENST00000433473	ensembl	human	known	74_37	missense	55	222	14.06	7.82	9	19	SNP	0.998	T	T	40558098	G	T	40558098	3	4	91	1	0	0	0	0	1	0	0	0	12411	942	33	5	746	5	PPT1	1	40558098	Missense_Mutation	SNP	G	TCGA-YT-A95H-01A-11D-A428-09		40558098	208692523	1	1098											
AGAP8	119016	genome.wustl.edu	37	chr10	51225554	51225554	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggattcctgagcattcaatAcacatgaggactcccaagtt	12	11	8	10	0	1	2	1	2	0	0	3	4	3	4	2	2	2	2	2	2	3	4			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr10:51225554A>G	ENST00000425119.2	-	7	1553	c.1428T>C	c.(1426-1428)tgT>tgC	p.C476C	AGAP8_ENST00000602930.1_Silent_p.C460C	NM_001077686.1|NM_001276344.1	NP_001071154.1|NP_001263273.1	Q5SRD3	AGAP8_HUMAN		476	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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						AGCATTCAATACACATGAGGA	0.537																																							0											0													111	117	115					10																	51225554		2189	4268	6457	SO:0001819	synonymous_variant	0																														ENST00000425119.2:c.1428T>C	10.37:g.51225554A>G				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.C476	ENST00000425119.2	37	c.1428	CCDS41522.1	10																																																																																			0	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.537	AGAP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGAP8	protein_coding	OTTHUMT00000048022.2	123	99	0	0.00	0	0	A		0	0		51225554	-1	no_errors	ENST00000425119	ensembl	human	known	74_37	silent	129	34	9.79	5.56	14	2	SNP	1	G	G	51225554	A	G	51225554	2	3	91	1	0	0	0	0	0	0	0	1	374	389	14	3		3	AGAP8	10	51225554	Silent	SNP	A	TCGA-YT-A95H-01A-11D-A428-09		51225554	84309193	2	1099											
DGKZ	8525	genome.wustl.edu	37	chr11	46400561	46400562	+	Frame_Shift_Ins	INS	-	-	G																															tccaggagctgcaccgagctINSgggggcgacctcatgcaccg																										TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr11:46400561_46400562insG	ENST00000454345.1	+	29	3128_3129	c.3003_3004insG	c.(3004-3006)gggfs	p.G1002fs	DGKZ_ENST00000421244.2_Frame_Shift_Ins_p.G814fs|MDK_ENST00000395565.1_5'Flank|DGKZ_ENST00000395574.3_Frame_Shift_Ins_p.G780fs|DGKZ_ENST00000528615.1_Frame_Shift_Ins_p.G592fs|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000318201.8_Frame_Shift_Ins_p.G791fs|DGKZ_ENST00000543978.1_Frame_Shift_Ins_p.G166fs|DGKZ_ENST00000532868.2_Frame_Shift_Ins_p.G818fs|MDK_ENST00000405308.2_5'Flank|MDK_ENST00000395569.4_5'Flank|DGKZ_ENST00000456247.2_Frame_Shift_Ins_p.G813fs|DGKZ_ENST00000343674.6_Frame_Shift_Ins_p.G830fs|DGKZ_ENST00000527911.1_Frame_Shift_Ins_p.G814fs|MDK_ENST00000407067.1_5'Flank|MIR4688_ENST00000577966.1_RNA|MDK_ENST00000395566.4_5'Flank	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	1002					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)		TGCACCGAGCTGGGGGCGACCT	0.683																																							0											0																																										SO:0001589	frameshift_variant	0			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.3008dupG	11.37:g.46400566_46400566dupG	ENSP00000412178:p.Gly1002fs		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Frame_Shift_Ins	INS	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.D1003fs	ENST00000454345.1	37	c.3003_3004	CCDS41640.1	11																																																																																			0	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.683	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	protein_coding	OTTHUMT00000389772.1	8	30	0	0.00	0	0	0	NM_001105540	0	0		46400562	1	no_errors	ENST00000454345	ensembl	human	known	74_37	frame_shift_ins	4	9	33.33	0.00	2	0	INS	0.572:1.000	G	G	46400562	-	G	46400561	7	5	91	1	0	1	1	0	0	0	0	0	4474	1567	55	0	3560	0	DGKZ	11	46400561	Frame_Shift_Ins	INS	-	TCGA-YT-A95H-01A-11D-A428-09		46400561	88605955	3	1100											
HYDIN	54768	genome.wustl.edu	37	chr16	70977762	70977762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagttcatccgggagcaCacagctcatcagcccggtct	10	7	11	13	2	4	1	3	0	1	1	5	3	5	2	2	2	3	3	2	2	1	1			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr16:70977762C>T	ENST00000393567.2	-	42	6772	c.6622G>A	c.(6622-6624)Gtg>Atg	p.V2208M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2208					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)				TCCGGGAGCACACAGCTCATC	0.622																																							0											0													34	35	35					16																	70977762		2031	4188	6219	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6622G>A	16.37:g.70977762C>T	ENSP00000377197:p.Val2208Met		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.V2208M	ENST00000393567.2	37	c.6622	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892394	0.33442	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01051	5.4	4.95	4.95	0.65309	.	0.000000	0.30085	U	0.010441	T	0.07007	0.0178	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07271	-1.0781	10	0.66056	D	0.02	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	2207	F8WD23	.	M	2208;2207	ENSP00000377197:V2208M	ENSP00000313052:V2207M	V	-	1	0	HYDIN	69535263	0.982000	0.34865	1.000000	0.80357	0.618000	0.37518	2.209000	0.42806	2.442000	0.82660	0.609000	0.83330	GTG	0	superfamily_P-loop_NTPase		0.622	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	19	18	0	0.00	0	0	C		0	0		70977762	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	9	1	30.77	0.00	4	0	SNP	1	T	T	70977762	C	T	70977762	3	4	91	1	0	0	0	0	1	0	0	0	7467	478	17	3	8923	3	HYDIN	16	70977762	Missense_Mutation	SNP	C	TCGA-YT-A95H-01A-11D-A428-09		70977762	19376991	4	1101											
MUC16	94025	genome.wustl.edu	37	chr19	9077478	9077478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgaccagtccctgtgatgCttctagcagttggtgactct	6	13	11	11	0	2	3	0	3	2	0	3	3	3	3	2	1	2	4	2	1	1	3			TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr19:9077478C>T	ENST00000397910.4	-	3	10171	c.9968G>A	c.(9967-9969)aGc>aAc	p.S3323N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3324	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						CCCTGTGATGCTTCTAGCAGT	0.527																																							0											0													115	110	111					19																	9077478		2022	4184	6206	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9968G>A	19.37:g.9077478C>T	ENSP00000381008:p.Ser3323Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S3323N	ENST00000397910.4	37	c.9968	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	3.174	-0.169378	0.06461	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.57	-3.13	0.05266	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	.	.	.	P	0.38148	0.62	B	0.25405	0.06	T	0.42258	-0.9462	8	0.87932	D	0	.	0.2339	0.00184	0.2067:0.2771:0.2051:0.3111	.	3323	B5ME49	.	N	3323	ENSP00000381008:S3323N	ENSP00000381008:S3323N	S	-	2	0	MUC16	8938478	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-1.017000	0.03630	-1.272000	0.02427	0.205000	0.17691	AGC	0	NULL		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	35	381	0	0.00	0	0	C	NM_024690	0	0		9077478	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	37	120	7.5	8.40	3	11	SNP	0	T	T	9077478	C	T	9077478	3	4	91	1	0	0	0	0	1	0	0	0	9973	797	28	3	33883	3	MUC16	19	9077478	Missense_Mutation	SNP	C	TCGA-YT-A95H-01A-11D-A428-09		9077478	50051505	5	1102											
GATAD2A	54815	genome.wustl.edu	37	chr19	19612169	19612170	+	Frame_Shift_Ins	INS	-	-	C																															gctcctgcagcagggcacggINScccctgcacaggccaaggcc																										TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr19:19612169_19612170insC	ENST00000360315.3	+	9	1756_1757	c.1444_1445insC	c.(1444-1446)gccfs	p.A482fs	GATAD2A_ENST00000358713.3_Frame_Shift_Ins_p.A482fs|GATAD2A_ENST00000429563.2_Frame_Shift_Ins_p.A310fs|GATAD2A_ENST00000404158.1_Frame_Shift_Ins_p.A483fs|GATAD2A_ENST00000537887.1_Frame_Shift_Ins_p.A111fs|GATAD2A_ENST00000252577.5_Frame_Shift_Ins_p.A482fs	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	482					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						GCAGGGCACGGCCCCTGCACAG	0.693																																							0											0																																										SO:0001589	frameshift_variant	0			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.1448dupC	19.37:g.19612173_19612173dupC	ENSP00000353463:p.Ala482fs		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Frame_Shift_Ins	INS	pfam_Znf_GATA,pfscan_Znf_GATA	p.A484fs	ENST00000360315.3	37	c.1444_1445	CCDS12402.2	19																																																																																			0	NULL		0.693	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	protein_coding	OTTHUMT00000326671.4	12	22	0	0.00	0	0	0	NM_017660	0	0		19612170	1	no_errors	ENST00000358713	ensembl	human	known	74_37	frame_shift_ins	12	6	14.29	0.00	2	0	INS	0.612:0.646	C	C	19612170	-	C	19612169	7	5	91	1	0	1	1	0	0	0	0	0	6260	1203	42	0	1474	0	GATAD2A	19	19612169	Frame_Shift_Ins	INS	-	TCGA-YT-A95H-01A-11D-A428-09	10534691	19612169	39516814	6	1103											
PRX	57716	genome.wustl.edu	37	chr19	40901939	40901939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggagccctgggcagcttcaCctctggtgccttcggaagat	6	9	13	13	2	2	1	1	0	1	1	3	3	2	3	3	4	3	2	3	4	1	2	rs565407328		TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr19:40901939C>T	ENST00000324001.7	-	7	2590	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	774	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)			GGCAGCTTCACCTCTGGTGCC	0.592																																							0											0													107	98	101					19																	40901939		2203	4300	6503	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2320G>A	19.37:g.40901939C>T	ENSP00000326018:p.Val774Met		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V774M	ENST00000324001.7	37	c.2320	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	C	3.404	-0.121646	0.06838	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01106	5.33	5.15	-1.85	0.07784	.	0.501691	0.16653	N	0.205134	T	0.00815	0.0027	L	0.33485	1.01	0.37555	D	0.918864	B	0.29671	0.254	B	0.26310	0.068	T	0.58736	-0.7584	10	0.32370	T	0.25	-14.7726	1.5295	0.02532	0.2337:0.402:0.1153:0.249	.	774	Q9BXM0	PRAX_HUMAN	M	774	ENSP00000326018:V774M	ENSP00000326018:V774M	V	-	1	0	PRX	45593779	0.000000	0.05858	0.220000	0.23810	0.175000	0.22909	0.180000	0.16860	-0.092000	0.12417	0.655000	0.94253	GTG	0	NULL		0.592	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	protein_coding	OTTHUMT00000462582.1	14	197	0	0.00	0	0	C	NM_020956	0	0		40901939	-1	no_errors	ENST00000324001	ensembl	human	known	74_37	missense	14	61	26.32	6.15	5	4	SNP	0.035	T	T	40901939	C	T	40901939	3	4	91	1	0	0	0	0	1	0	0	0	12642	507	18	3	2069	3	PRX	19	40901939	Missense_Mutation	SNP	C	TCGA-YT-A95H-01A-11D-A428-09	21289770	40901939	18227044	7	1104											
FCAR	2204	genome.wustl.edu	37	chr19	55386792	55386793	+	Frame_Shift_Ins	INS	-	-	C																															ctctctcttccagtgctctgINStctgggccagaggattcagg																								rs147036661	byFrequency	TCGA-YT-A95H-01A-11D-A428-09	TCGA-YT-A95H-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ae12b51c-15e5-4aba-b4cd-681fdcbaa13e	5927d5ea-9271-45b9-a21d-ad042fd911d1	g.chr19:55386792_55386793insC	ENST00000355524.3	+	2	51_52	c.41_42insC	c.(40-45)tgtctgfs	p.L15fs	FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391725.3_Frame_Shift_Ins_p.L15fs|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000359272.4_Intron|FCAR_ENST00000345937.4_Frame_Shift_Ins_p.L15fs|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Frame_Shift_Ins_p.L15fs	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	15					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)		CCAGTGCTCTGTCTGGGCCAGA	0.446																																							0											0																																										SO:0001589	frameshift_variant	0			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	Exception_encountered	19.37:g.55386792_55386793insC	ENSP00000347714:p.Leu15fs		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Frame_Shift_Ins	INS	smart_Ig_sub	p.L15fs	ENST00000355524.3	37	c.41_42	CCDS12907.1	19																																																																																			0	NULL		0.446	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCAR	protein_coding	OTTHUMT00000141243.1	26	556	0	0.00	0	0	0	NM_002000	0	0		55386793	1	no_errors	ENST00000355524	ensembl	human	known	74_37	frame_shift_ins	50	228	12.28	6.56	7	16	INS	1.000:1.000	C	C	55386793	-	C	55386792	7	5	91	1	0	1	1	0	0	0	0	0	5773	1377	48	0	47	0	FCAR	19	55386792	Frame_Shift_Ins	INS	-	TCGA-YT-A95H-01A-11D-A428-09	14484853	55386792	3742191	8	1105											
FAM73A	374986	genome.wustl.edu	37	chr1	78332037	78332037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttaggctgtggcttcaagTtgttggtcggtgctgaaaca	8	14	13	6	1	1	1	1	1	0	0	2	1	1	1	0	4	2	5	0	4	3	5			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr1:78332037T>C	ENST00000370791.3	+	14	1556	c.1524T>C	c.(1522-1524)agT>agC	p.S508S	FAM73A_ENST00000443751.2_Silent_p.S470S	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	508						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)		TGGCTTCAAGTTGTTGGTCGG	0.323																																							0											0													100	104	103					1																	78332037		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1524T>C	1.37:g.78332037T>C			Q6MZG0	Silent	SNP	pfam_DUF2217	p.S508	ENST00000370791.3	37	c.1524	CCDS681.1	1																																																																																			0	pfam_DUF2217		0.323	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	protein_coding	OTTHUMT00000026931.1	129	262	0	0.00	0	0	T	NM_198549	0	0		78332037	1	no_errors	ENST00000370791	ensembl	human	known	74_37	silent	87	193	19.44	26.89	21	71	SNP	1	C	C	78332037	T	C	78332037	2	2	92	1	0	0	0	0	0	0	0	1	5617	1722	60	3		3	FAM73A	1	78332037	Silent	SNP	T	TCGA-ZB-A961-01A-11D-A428-09		78332037	170918584	1	1106											
RAB7L1	8934	genome.wustl.edu	37	chr1	205739888	205739888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcattaatatttttgttcTccttgactgatgtttctgtc	6	21	5	9	0	3	2	1	2	2	0	5	2	3	2	2	0	0	2	2	0	2	7			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr1:205739888T>C	ENST00000367139.3	-	5	776	c.473A>G	c.(472-474)gAg>gGg	p.E158G	RAB7L1_ENST00000235932.4_Missense_Mutation_p.E158G|RAB7L1_ENST00000437324.2_Missense_Mutation_p.E86G|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E158G|RAB7L1_ENST00000446390.2_Missense_Mutation_p.E134G	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		158					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ATTTTTGTTCTCCTTGACTGA	0.473																																					Pancreas(25;658 872 27763 34889 38531)		0											0													173	128	143					1																	205739888		2203	4300	6503	SO:0001583	missense	0																														ENST00000367139.3:c.473A>G	1.37:g.205739888T>C	ENSP00000356107:p.Glu158Gly		B4E1K3|C9JE77	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.E158G	ENST00000367139.3	37	c.473	CCDS1459.1	1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560980	0.86335	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000437324;ENST00000446390;ENST00000414729	T;T;T;T;T	0.80480	-1.38;-1.38;-0.5;-1.38;-1.38	5.16	5.16	0.70880	Small GTP-binding protein domain (1);	0.117770	0.56097	D	0.000030	D	0.87325	0.6149	M	0.64260	1.97	0.45307	D	0.998306	D;D	0.76494	0.999;0.992	D;D	0.72982	0.979;0.944	D	0.88234	0.2905	10	0.62326	D	0.03	-2.4076	13.5022	0.61462	0.0:0.0:0.0:1.0	.	134;158	B4E1K3;O14966	.;RAB7L_HUMAN	G	158;158;86;134;158	ENSP00000356107:E158G;ENSP00000235932:E158G;ENSP00000416613:E86G;ENSP00000389899:E134G;ENSP00000402910:E158G	ENSP00000235932:E158G	E	-	2	0	RAB7L1	204006511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.301000	0.65727	2.070000	0.61991	0.459000	0.35465	GAG	0	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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.473	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB7L1	protein_coding	OTTHUMT00000087732.1	30	293	0	0.00	0	0	T		0	0		205739888	-1	no_errors	ENST00000235932	ensembl	human	known	74_37	missense	14	175	50	43.77	14	137	SNP	1	C	C	205739888	T	C	205739888	3	2	92	1	0	0	0	0	1	0	0	0	12955	1551	54	4	146	4	RAB7L1	1	205739888	Missense_Mutation	SNP	T	TCGA-ZB-A961-01A-11D-A428-09	127407851	205739888	43510733	2	1107											
LBH	81606	genome.wustl.edu	37	chr2	30480360	30480360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggaccgtctgccctccaTagtggtggaacccacagaag	11	6	12	12	1	1	1	0	0	1	1	2	4	2	3	4	3	2	0	4	3	4	1			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr2:30480360T>C	ENST00000395323.3	+	3	399	c.191T>C	c.(190-192)aTa>aCa	p.I64T	LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_Missense_Mutation_p.I47T|LBH_ENST00000401506.1_Missense_Mutation_p.I70T	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	64					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					CTGCCCTCCATAGTGGTGGAA	0.572																																							0											0													58	64	62					2																	30480360		2203	4300	6503	SO:0001583	missense	0			AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"limb bud and heart development homolog (mouse)"			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.191T>C	2.37:g.30480360T>C	ENSP00000378733:p.Ile64Thr		B2RBC2|Q9H0Q1	Missense_Mutation	SNP	pirsf_LBH,prints_LBH	p.I64T	ENST00000395323.3	37	c.191	CCDS33173.1	2	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221250	0.79464	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	M	0.71036	2.16	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.80190	-0.1485	9	0.87932	D	0	-23.2654	13.5584	0.61773	0.0:0.0:0.0:1.0	.	64	Q53QV2	LBH_HUMAN	T	64;70;47	.	ENSP00000378733:I64T	I	+	2	0	LBH	30333864	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.715000	0.84713	1.803000	0.52742	0.459000	0.35465	ATA	0	pirsf_LBH,prints_LBH		0.572	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBH	protein_coding	OTTHUMT00000325091.1	16	136	0	0.00	0	0	T	NM_030915	0	0		30480360	1	no_errors	ENST00000395323	ensembl	human	known	74_37	missense	16	98	27.27	23.66	6	31	SNP	1	C	C	30480360	T	C	30480360	3	2	92	1	0	0	0	0	1	0	0	0	8650	1406	49	3	201	3	LBH	2	30480360	Missense_Mutation	SNP	T	TCGA-ZB-A961-01A-11D-A428-09		30480360	212719013	3	1108											
SCN1A	6323	genome.wustl.edu	37	chr2	166903446	166903446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcccaagaaaatgaccaatAcaaaaaatatcatgtacgtt	20	8	5	8	1	1	2	1	1	0	1	1	2	1	2	2	0	3	2	2	0	10	4			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr2:166903446A>G	ENST00000303395.4	-	9	1210	c.1211T>C	c.(1210-1212)gTa>gCa	p.V404A	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V404A|SCN1A_ENST00000423058.2_Missense_Mutation_p.V404A|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V404A			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	404					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)	AATGACCAATACAAAAAATAT	0.398																																							0											0													102	99	100					2																	166903446		2203	4300	6503	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1211T>C	2.37:g.166903446A>G	ENSP00000303540:p.Val404Ala		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.V404A	ENST00000303395.4	37	c.1211	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714418	0.89112	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000013	D	0.99248	0.9738	M	0.90019	3.08	0.80722	D	1	D;D;D	0.69078	0.994;0.996;0.997	P;D;D	0.79108	0.908;0.981;0.992	D	0.99204	1.0874	10	0.87932	D	0	.	15.8917	0.79303	1.0:0.0:0.0:0.0	.	404;404;404	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	A	404	ENSP00000407030:V404A;ENSP00000303540:V404A;ENSP00000364554:V404A;ENSP00000386312:V404A	ENSP00000303540:V404A	V	-	2	0	SCN1A	166611692	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.284000	0.95882	2.212000	0.71576	0.533000	0.62120	GTA	0	pfam_Ion_trans_dom		0.398	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	88	121	0	0.00	0	0	A	NM_006920	0	0		166903446	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	58	87	17.14	24.35	12	28	SNP	1	G	G	166903446	A	G	166903446	3	3	92	1	0	0	0	0	1	0	0	0	13914	391	14	3	4890	3	SCN1A	2	166903446	Missense_Mutation	SNP	A	TCGA-ZB-A961-01A-11D-A428-09	136423086	166903446	76295927	4	1109											
CCDC141	285025	genome.wustl.edu	37	chr2	179742828	179742828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgctccttctgagggatttCggtttcataaaattctttta	8	18	7	8	1	3	1	1	1	2	0	5	2	4	2	1	2	1	2	1	2	3	7			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr2:179742828C>G	ENST00000409284.1	-	12	1879	c.1762G>C	c.(1762-1764)Gaa>Caa	p.E588Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.E13Q|CCDC141_ENST00000420890.2_Missense_Mutation_p.E588Q			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	588										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)			TGAGGGATTTCGGTTTCATAA	0.343																																							0											0													73	70	71					2																	179742828		2203	4300	6503	SO:0001583	missense	0			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.1762G>C	2.37:g.179742828C>G	ENSP00000386503:p.Glu588Gln		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E588Q	ENST00000409284.1	37	c.1762		2	.	.	.	.	.	.	.	.	.	.	c	10.91	1.482798	0.26598	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116;ENST00000409284	T;T;T;T	0.50277	0.75;1.37;1.31;1.34	5.3	0.396	0.16309	.	0.575074	0.15308	N	0.269202	T	0.28466	0.0704	L	0.27053	0.805	0.09310	N	1	B;P	0.41748	0.389;0.761	B;B	0.35278	0.103;0.199	T	0.11421	-1.0588	10	0.25751	T	0.34	-0.0376	10.3776	0.44092	0.0:0.622:0.0:0.378	.	588;13	B8ZZB3;Q6ZP82	.;CC141_HUMAN	Q	588;32;13;588;523;588	ENSP00000395995:E588Q;ENSP00000344627:E32Q;ENSP00000295723:E13Q;ENSP00000390190:E588Q	ENSP00000295723:E13Q	E	-	1	0	CCDC141	179451073	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.108000	0.15396	-0.214000	0.10078	-1.163000	0.01768	GAA	0	NULL		0.343	CCDC141-003	PUTATIVE	basic	protein_coding	CCDC141	protein_coding	OTTHUMT00000335873.1	45	244	0	0.00	0	0	C	NM_173648	0	0		179742828	-1	no_errors	ENST00000420890	ensembl	human	known	74_37	missense	18	174	25	22.12	6	50	SNP	0	G	G	179742828	C	G	179742828	3	3	92	1	0	0	0	0	1	0	0	0	2775	893	31	5	2638	5	CCDC141	2	179742828	Missense_Mutation	SNP	C	TCGA-ZB-A961-01A-11D-A428-09	12839382	179742828	63456545	5	1110											
SPHKAP	80309	genome.wustl.edu	37	chr2	228855819	228855819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagctcggcatctggaCactctggctccaggtcaaag	8	8	12	13	2	3	0	1	0	2	0	6	2	4	2	1	5	1	3	1	5	1	0			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr2:228855819C>T	ENST00000392056.3	-	11	4902	c.4856G>A	c.(4855-4857)tGt>tAt	p.C1619Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.C1590Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1619						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)		GGCATCTGGACACTCTGGCTC	0.542																																							0											0													50	51	51					2																	228855819		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4856G>A	2.37:g.228855819C>T	ENSP00000375909:p.Cys1619Tyr		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.C1619Y	ENST00000392056.3	37	c.4856	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398670	0.83120	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06218	3.33;3.33	6.17	6.17	0.99709	A-kinase anchor 110kDa, C-terminal (1);	0.138939	0.64402	D	0.000002	T	0.25644	0.0624	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.959	T	0.00006	-1.2515	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	1619;1590	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Y	1619;1590	ENSP00000375909:C1619Y;ENSP00000339886:C1590Y	ENSP00000339886:C1590Y	C	-	2	0	SPHKAP	228564063	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	7.194000	0.77789	2.941000	0.99782	0.655000	0.94253	TGT	0	pfam_AKAP_110_C		0.542	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	31	82	0	0.00	0	0	C	NM_030623	0	0		228855819	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	18	66	37.93	14.29	11	11	SNP	1	T	T	228855819	C	T	228855819	3	4	92	1	0	0	0	0	1	0	0	0	15047	478	17	3	254	3	SPHKAP	2	228855819	Missense_Mutation	SNP	C	TCGA-ZB-A961-01A-11D-A428-09	49112991	228855819	14343554	6	1111											
PROS1	5627	genome.wustl.edu	37	chr3	93595864	93595864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcattgctttgtccaagaCggcaagttgtctttgaaggt	8	16	10	7	1	2	2	1	1	1	1	3	2	3	2	1	2	1	3	1	2	3	5	rs371885410		TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr3:93595864C>G	ENST00000394236.3	-	14	2132	c.1816G>C	c.(1816-1818)Gtc>Ctc	p.V606L	PROS1_ENST00000407433.1_Missense_Mutation_p.V475L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	606	Laminin G-like 2. {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)			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)	TTGTCCAAGACGGCAAGTTGT	0.388																																							0											0													137	129	132					3																	93595864		2203	4300	6503	SO:0001583	missense	0				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.1816G>C	3.37:g.93595864C>G	ENSP00000377783:p.Val606Leu		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	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.V606L	ENST00000394236.3	37	c.1816	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	C	4.269	0.048930	0.08243	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.77620	-1.11;-1.11	4.64	-2.22	0.06952	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.323490	0.04571	N	0.393299	T	0.64080	0.2566	N	0.25647	0.755	0.26688	N	0.971406	B	0.27498	0.18	B	0.29077	0.098	T	0.49184	-0.8966	10	0.09084	T	0.74	.	10.6686	0.45745	0.0:0.5009:0.0:0.4991	.	606	P07225	PROS_HUMAN	L	606;475	ENSP00000377783:V606L;ENSP00000385794:V475L	ENSP00000377783:V606L	V	-	1	0	PROS1	95078554	0.001000	0.12720	0.041000	0.18516	0.174000	0.22865	-0.861000	0.04268	-0.565000	0.06061	-0.351000	0.07748	GTC	0	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.388	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	protein_coding	OTTHUMT00000317762.1	123	92	0	0.00	0	0	C	NM_000313	0	0		93595864	-1	no_errors	ENST00000394236	ensembl	human	known	74_37	missense	66	46	25.84	28.12	23	18	SNP	0.591	G	G	93595864	C	G	93595864	3	3	92	1	0	0	0	0	1	0	0	0	12558	536	19	5	222	5	PROS1	3	93595864	Missense_Mutation	SNP	C	TCGA-ZB-A961-01A-11D-A428-09		93595864	104426566	7	1112											
PLCXD2	257068	genome.wustl.edu	37	chr3	111394132	111394148	+	Frame_Shift_Del	DEL	GGGACCATCTGCTCCCC	GGGACCATCTGCTCCCC	-																															ccaggaggaaactcaggatgGggaccatctgctcccccaac																								rs533950425		TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	GGGACCATCTGCTCCCC	GGGACCATCTGCTCCCC	GGGACCATCTGCTCCCC	-	GGGACCATCTGCTCCCC	GGGACCATCTGCTCCCC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr3:111394132_111394148delGGGACCATCTGCTCCCC	ENST00000477665.1	+	1	364_380	c.40_56delGGGACCATCTGCTCCCC	c.(40-57)gggaccatctgctcccccfs	p.GTICSP14fs	PLCXD2_ENST00000393934.3_Frame_Shift_Del_p.GTICSP14fs|PLCXD2-AS1_ENST00000493131.1_RNA	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	14					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ACTCAGGATGGGGACCATCTGCTCCCCCAACCCCAGC	0.571																																							0											0																																										SO:0001589	frameshift_variant	0			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.40_56delGGGACCATCTGCTCCCC	3.37:g.111394132_111394148delGGGACCATCTGCTCCCC	ENSP00000420686:p.Gly14fs		Q96N12	Frame_Shift_Del	DEL	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.G14fs	ENST00000477665.1	37	c.40_56	CCDS54619.1	3																																																																																			0	NULL		0.571	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCXD2	protein_coding	OTTHUMT00000354322.1	48	163	0	0.00	0	0	GGGACCATCTGCTCCCC	NM_153268	0	0		111394148	1	no_errors	ENST00000477665	ensembl	human	known	74_37	frame_shift_del	26	112	10.34	7.44	3	9	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	0	-	111394148	GGGACCATCTGCTCCCC	-	111394132	7	5	92	1	0	1	0	1	0	0	0	0	12042	1232	43	0	42	0	PLCXD2	3	111394132	Frame_Shift_Del	DEL	GGGACCATCTGCTCCCC	TCGA-ZB-A961-01A-11D-A428-09	17798268	111394132	86628298	8	1113											
LRRC66	339977	genome.wustl.edu	37	chr4	52883540	52883540	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attttccactcttcttttttCgtgtgagactgtaagagaac	9	17	7	8	1	2	2	0	1	2	2	4	4	3	2	1	0	1	1	1	0	2	7	rs368082372		TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr4:52883540C>G	ENST00000343457.3	-	1	246	c.240G>C	c.(238-240)acG>acC	p.T80T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	80						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						CTTCTTTTTTCGTGTGAGACT	0.368																																							0											0													110	107	108					4																	52883540		1844	4092	5936	SO:0001819	synonymous_variant	0			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.240G>C	4.37:g.52883540C>G				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T80	ENST00000343457.3	37	c.240	CCDS43229.1	4																																																																																			0	NULL		0.368	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	protein_coding	OTTHUMT00000361473.1	54	312	0	0.00	0	0	C	NM_001024611	0	0		52883540	-1	no_errors	ENST00000343457	ensembl	human	known	74_37	silent	47	213	24.19	25.00	15	71	SNP	0.001	G	G	52883540	C	G	52883540	2	3	92	1	0	0	0	0	0	0	0	1	9018	871	31	5		5	LRRC66	4	52883540	Silent	SNP	C	TCGA-ZB-A961-01A-11D-A428-09		52883540	138270736	9	1114											
CLIP2	7461	genome.wustl.edu	37	chr7	73803544	73803544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccggaagacccatgacgcctCgggccagctagtcctcatca	9	6	10	16	3	2	2	2	1	0	1	4	3	3	3	5	2	1	1	5	2	2	1			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr7:73803544C>G	ENST00000395060.1	+	12	2675	c.2675C>G	c.(2674-2676)tCg>tGg	p.S892W	CLIP2_ENST00000361545.5_Missense_Mutation_p.S857W|CLIP2_ENST00000223398.6_Missense_Mutation_p.S892W			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	892						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						CATGACGCCTCGGGCCAGCTA	0.672																																							0											0													29	27	28					7																	73803544		2203	4300	6503	SO:0001583	missense	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2675C>G	7.37:g.73803544C>G	ENSP00000378500:p.Ser892Trp		O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.S892W	ENST00000395060.1	37	c.2675	CCDS5569.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.294616|4.294616	0.81025|0.81025	.|.	.|.	ENSG00000106665|ENSG00000106665	ENST00000493166|ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	.|D;D;D	.|0.83075	.|-1.68;-1.68;-1.68	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	.|0.138075	.|0.50627	.|D	.|0.000106	D|D	0.84687|0.84687	0.5527|0.5527	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.87585|0.87585	0.2487|0.2487	5|10	.|0.87932	.|D	.|0	-8.9614|-8.9614	15.671|15.671	0.77274|0.77274	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|857;892	.|Q9UDT6-2;Q9UDT6	.|.;CLIP2_HUMAN	G|W	142|892;892;857;892	.|ENSP00000223398:S892W;ENSP00000355151:S857W;ENSP00000378500:S892W	.|ENSP00000223398:S892W	R|S	+|+	1|2	2|0	CLIP2|CLIP2	73441480|73441480	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.921000|0.921000	0.55340|0.55340	7.008000|7.008000	0.76341|0.76341	2.085000|2.085000	0.62840|0.62840	0.655000|0.655000	0.94253|0.94253	CGG|TCG	0	NULL		0.672	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	protein_coding	OTTHUMT00000252556.1	30	61	0	0.00	0	0	C	NM_003388	0	0		73803544	1	no_errors	ENST00000223398	ensembl	human	known	74_37	missense	39	30	17.02	14.29	8	5	SNP	0.998	G	G	73803544	C	G	73803544	3	3	92	1	0	0	0	0	1	0	0	0	3533	893	31	5	2721	5	CLIP2	7	73803544	Missense_Mutation	SNP	C	TCGA-ZB-A961-01A-11D-A428-09		73803544	85335119	10	1115											
RB1CC1	9821	genome.wustl.edu	37	chr8	53569316	53569328	+	Frame_Shift_Del	DEL	TTATTTGTTGGTT	TTATTTGTTGGTT	-																															agattcttgtatttgattaaTtatttgttggttttcctttt																								rs567084030	byFrequency	TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	TTATTTGTTGGTT	TTATTTGTTGGTT	TTATTTGTTGGTT	-	TTATTTGTTGGTT	TTATTTGTTGGTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr8:53569316_53569328delTTATTTGTTGGTT	ENST00000025008.5	-	15	3584_3596	c.3061_3073delAACCAACAAATAA	c.(3061-3075)aaccaacaaataattfs	p.NQQII1021fs	RB1CC1_ENST00000539297.1_Frame_Shift_Del_p.NQQII1021fs|RB1CC1_ENST00000435644.2_Frame_Shift_Del_p.NQQII1021fs|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1021					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)				ATTTGATTAATTATTTGTTGGTTTTCCTTTTTT	0.343																																					GBM(180;1701 2102 13475 42023 52570)		0											0																																										SO:0001589	frameshift_variant	0			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.3061_3073delAACCAACAAATAA	8.37:g.53569316_53569328delTTATTTGTTGGTT	ENSP00000025008:p.Asn1021fs		Q86YR4|Q8WVU9|Q92601	Frame_Shift_Del	DEL	pfam_Autophagy-rel_p11	p.N1021fs	ENST00000025008.5	37	c.3073_3061	CCDS34892.1	8																																																																																			0	NULL		0.343	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	protein_coding	OTTHUMT00000378011.1	70	322	0	0.00	0	0	TTATTTGTTGGTT	NM_014781	0	0		53569328	-1	no_errors	ENST00000025008	ensembl	human	known	74_37	frame_shift_del	33	231	10.81	4.94	4	12	DEL	0.619:0.615:0.253:0.273:0.212:0.281:0.278:0.063:0.248:0.309:0.344:0.977:1.000	0	-	53569328	TTATTTGTTGGTT	-	53569316	7	5	92	1	0	1	0	1	0	0	0	0	13099	1493	52	0	1751	0	RB1CC1	8	53569316	Frame_Shift_Del	DEL	TTATTTGTTGGTT	TCGA-ZB-A961-01A-11D-A428-09		53569316	92794706	11	1116											
IMPA1	3612	genome.wustl.edu	37	chr8	82593786	82593786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atccatgcattcctgccaagGatcagccatcttctgaaaat	12	11	6	12	0	3	1	1	1	2	0	5	2	5	2	4	1	3	1	4	1	3	2			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr8:82593786G>C	ENST00000256108.5	-	2	475	c.10C>G	c.(10-12)Cct>Gct	p.P4A	IMPA1_ENST00000311489.4_Missense_Mutation_p.P4A|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.P63A	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	4					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TCCTGCCAAGGATCAGCCATC	0.328																																							0											0													91	86	88					8																	82593786		2203	4300	6503	SO:0001583	missense	0				CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.10C>G	8.37:g.82593786G>C	ENSP00000256108:p.Pro4Ala		B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase	p.P63A	ENST00000256108.5	37	c.187	CCDS6231.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.22|11.22	1.575253|1.575253	0.28092|0.28092	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000256108;ENST00000311489;ENST00000449740;ENST00000521360;ENST00000522997;ENST00000518202|ENST00000523942	T;T;T;T;T;T|.	0.41400|.	1.65;1.63;1.61;1.0;1.59;1.63|.	3.92|3.92	3.92|3.92	0.45320|0.45320	.|.	0.370972|.	0.29133|.	N|.	0.013051|.	T|T	0.58609|0.58609	0.2134|0.2134	L|L	0.52126|0.52126	1.63|1.63	0.33337|0.33337	D|D	0.569427|0.569427	B;B;B|.	0.15930|.	0.007;0.015;0.001|.	B;B;B|.	0.16722|.	0.002;0.016;0.002|.	T|T	0.68209|0.68209	-0.5469|-0.5469	10|5	0.18710|.	T|.	0.47|.	0.1725|0.1725	15.8678|15.8678	0.79076|0.79076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;63;4|.	B4DLN3;B7Z6Q4;P29218|.	.;.;IMPA1_HUMAN|.	A|C	4;4;63;4;63;4|28	ENSP00000256108:P4A;ENSP00000311803:P4A;ENSP00000408526:P63A;ENSP00000430283:P4A;ENSP00000430081:P63A;ENSP00000429516:P4A|.	ENSP00000256108:P4A|.	P|S	-|-	1|2	0|0	IMPA1|IMPA1	82756341|82756341	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.795000|0.795000	0.44927|0.44927	3.757000|3.757000	0.55212|0.55212	1.877000|1.877000	0.54381|0.54381	0.289000|0.289000	0.19496|0.19496	CCT|TCC	0	NULL		0.328	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA1	protein_coding	OTTHUMT00000379723.1	79	126	0	0.00	0	0	G		0	0		82593786	-1	no_errors	ENST00000449740	ensembl	human	known	74_37	missense	26	118	25.71	22.37	9	34	SNP	1	C	C	82593786	G	C	82593786	3	2	92	1	0	0	0	0	1	0	0	0	7722	1174	41	5	855	5	IMPA1	8	82593786	Missense_Mutation	SNP	G	TCGA-ZB-A961-01A-11D-A428-09	29024470	82593786	63770236	12	1117											
FOXD4L3	286380	genome.wustl.edu	37	chr9	70918627	70918627	+	Missense_Mutation	SNP	G	G	C																															cgggggcctaccccaacaccGcccccgggagacgcccttac																								rs201219160	byFrequency	TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr9:70918627G>C	ENST00000342833.2	+	1	1352	c.760G>C	c.(760-762)Gcc>Ccc	p.A254P		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	254						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)		CCCCAACACCGCCCCCGGGAG	0.706																																							0											0													1	1	1					9																	70918627		120	271	391	SO:0001583	missense	0			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.760G>C	9.37:g.70918627G>C	ENSP00000341961:p.Ala254Pro		Q5JTX9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A254P	ENST00000342833.2	37	c.760	CCDS43833.1	9	.	.	.	.	.	.	.	.	.	.	.	9.333	1.061000	0.19987	.	.	ENSG00000187559	ENST00000342833	D	0.94687	-3.49	3.09	-0.107	0.13592	.	.	.	.	.	D	0.85932	0.5812	N	0.19112	0.55	0.09310	N	1	B	0.18461	0.028	B	0.12837	0.008	T	0.72947	-0.4137	9	0.30078	T	0.28	.	3.3774	0.07242	0.2809:0.2329:0.4862:0.0	.	254	Q6VB84	FX4L3_HUMAN	P	254	ENSP00000341961:A254P	ENSP00000341961:A254P	A	+	1	0	FOXD4L3	70108447	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-2.773000	0.00778	-0.143000	0.11334	0.455000	0.32223	GCC	0	NULL		0.706	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L3	protein_coding	OTTHUMT00000052539.2	64	0	0	0.00	0	0	G	NM_199358	rs201219160	G->C		70918627	1	no_errors	ENST00000342833	ensembl	human	known	74_37	missense	67	0	16.25	0.00	13	0	SNP	0.001	C	C	70918627	G	C	70918627	3	2	92	1	0	0	0	0	1	0	0	0	6001	1087	38	5	762	5	FOXD4L3	9	70918627	Missense_Mutation	SNP	G	TCGA-ZB-A961-01A-11D-A428-09		70918627	70294804	13	1118	7	2									
FOXD4L3	286380	genome.wustl.edu	37	chr9	70918632	70918632	+	Silent	SNP	C	C	G																															gcctaccccaacaccgccccCgggagacgcccttacgctct																								rs201851681	byFrequency	TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr9:70918632C>G	ENST00000342833.2	+	1	1357	c.765C>G	c.(763-765)ccC>ccG	p.P255P		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	255						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)		ACACCGCCCCCGGGAGACGCC	0.721																																							0											0													1	1	1					9																	70918632		92	206	298	SO:0001819	synonymous_variant	0			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.765C>G	9.37:g.70918632C>G			Q5JTX9	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P255	ENST00000342833.2	37	c.765	CCDS43833.1	9																																																																																			0	NULL		0.721	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L3	protein_coding	OTTHUMT00000052539.2	59	0	0	0.00	0	0	C	NM_199358	rs201851681	C->G		70918632	1	no_errors	ENST00000342833	ensembl	human	known	74_37	silent	63	0	16	0.00	12	0	SNP	0.004	G	G	70918632	C	G	70918632	2	3	92	1	0	0	0	0	0	0	0	1	6001	639	23	5		5	FOXD4L3	9	70918632	Silent	SNP	C	TCGA-ZB-A961-01A-11D-A428-09	5	70918632	70294799	14	1119	7	2									
TRPM3	80036	genome.wustl.edu	37	chr9	73736100	73736100	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagttacagtaccttcagAagtctgacagatggaagaaa	16	8	10	7	0	2	4	1	1	1	3	2	5	2	5	1	1	2	3	1	1	6	3	rs367660235		TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr9:73736100A>T	ENST00000377111.2	-	1	414	c.171T>A	c.(169-171)ctT>ctA	p.L57L	TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000377110.3_Silent_p.L57L|TRPM3_ENST00000357533.2_Intron	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	57					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						GTACCTTCAGAAGTCTGACAG	0.502																																							0											0													80	82	81					9																	73736100		1962	4149	6111	SO:0001819	synonymous_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.171T>A	9.37:g.73736100A>T			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	pfam_Ion_trans_dom	p.L57	ENST00000377111.2	37	c.171		9																																																																																			0	NULL		0.502	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	protein_coding	OTTHUMT00000214157.5	23	206	0	0.00	0	0	A	NM_206945	0	0		73736100	-1	no_errors	ENST00000377110	ensembl	human	known	74_37	silent	19	149	34.48	21.16	10	40	SNP	0.999	T	T	73736100	A	T	73736100	2	4	92	1	0	0	0	0	0	0	0	1	16584	233	9	5		5	TRPM3	9	73736100	Silent	SNP	A	TCGA-ZB-A961-01A-11D-A428-09	2817468	73736100	67477331	15	1120											
BIRC3	330	genome.wustl.edu	37	chr11	102198822	102198822	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attaaaggacaggagttcatCcgtcaagttcaagccagtta	14	10	9	8	1	3	0	3	0	0	0	4	2	4	2	2	2	1	3	2	2	5	4			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr11:102198822C>A	ENST00000263464.3	+	4	3743	c.993C>A	c.(991-993)atC>atA	p.I331I	BIRC3_ENST00000532808.1_Silent_p.I331I	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	331					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|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)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AGGAGTTCATCCGTCAAGTTC	0.318			T	MALT1	MALT																																		0		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													96	94	94					11																	102198822		2203	4299	6502	SO:0001819	synonymous_variant	0			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.993C>A	11.37:g.102198822C>A			Q16628|Q9HC27|Q9UP46	Silent	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.I331	ENST00000263464.3	37	c.993	CCDS8315.1	11																																																																																			0	NULL		0.318	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BIRC3	protein_coding	OTTHUMT00000394159.1	76	356	0	0.00	0	0	C	NM_001165	0	0		102198822	1	no_errors	ENST00000263464	ensembl	human	known	74_37	silent	37	200	33.93	25.93	19	70	SNP	0.002	A	A	102198822	C	A	102198822	2	1	92	1	0	0	0	0	0	0	0	1	1436	845	30	5		5	BIRC3	11	102198822	Silent	SNP	C	TCGA-ZB-A961-01A-11D-A428-09		102198822	32807694	16	1121											
KHNYN	23351	genome.wustl.edu	37	chr14	24901148	24901148	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccaaggagtgagagctccCcctagtgacggcagggagtc	9	6	15	11	1	0	2	0	2	0	1	2	5	1	4	3	3	2	2	3	3	2	1	rs117296295	byFrequency	TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr14:24901148C>G	ENST00000251343.5	+	3	820	c.681C>G	c.(679-681)ccC>ccG	p.P227P	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Silent_p.P227P|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000553935.1_Silent_p.P227P			O15037	KHNYN_HUMAN	KH and NYN domain containing	227							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGAGAGCTCCCCCTAGTGACG	0.637											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													62	64	63					14																	24901148		2203	4300	6503	SO:0001819	synonymous_variant	0			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.681C>G	14.37:g.24901148C>G		774	Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	pfam_RNase_Zc3h12	p.P227	ENST00000251343.5	37	c.681	CCDS32058.1	14																																																																																			0	NULL		0.637	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	protein_coding	OTTHUMT00000412928.1	30	149	0	0.00	0	0	C		0	0		24901148	1	no_errors	ENST00000251343	ensembl	human	known	74_37	silent	17	88	22.73	20.72	5	23	SNP	0.001	G	G	24901148	C	G	24901148	2	3	92	1	0	0	0	0	0	0	0	1	8150	610	22	5		5	KHNYN	14	24901148	Silent	SNP	C	TCGA-ZB-A961-01A-11D-A428-09		24901148	82448392	17	1122											
CD276	80381	genome.wustl.edu	37	chr15	73994736	73994736	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctgacagataccaaaCagctggtgcacagctttgct	11	8	11	11	0	0	2	0	1	0	1	0	2	0	2	1	2	7	6	1	2	2	2			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr15:73994736C>T	ENST00000318443.5	+	3	522	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	CD276_ENST00000561213.1_Nonsense_Mutation_p.Q74*|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000564751.1_Nonsense_Mutation_p.Q74*|CD276_ENST00000318424.5_Nonsense_Mutation_p.Q74*	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	74	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						AGATACCAAACAGCTGGTGCA	0.637																																							0											0													53	46	48					15																	73994736		2198	4297	6495	SO:0001587	stop_gained	0			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.220C>T	15.37:g.73994736C>T	ENSP00000320084:p.Gln74*		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Nonsense_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.Q74*	ENST00000318443.5	37	c.220	CCDS32288.1	15	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417746	0.42918	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000543481	.	.	.	2.84	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-16.7484	14.4394	0.67306	0.0:1.0:0.0:0.0	.	.	.	.	X	74	.	ENSP00000320058:Q74X	Q	+	1	0	CD276	71781789	1.000000	0.71417	0.999000	0.59377	0.588000	0.36517	2.616000	0.46376	1.888000	0.54679	0.313000	0.20887	CAG	0	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.637	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD276	protein_coding	OTTHUMT00000268979.1	24	16	0	0.00	0	0	C	NM_025240	0	0		73994736	1	no_errors	ENST00000318443	ensembl	human	known	74_37	nonsense	18	12	33.33	14.29	9	2	SNP	1	T	T	73994736	C	T	73994736	4	4	92	1	0	0	0	0	0	1	0	0	2992	479	17	3	226	3	CD276	15	73994736	Nonsense_Mutation	SNP	C	TCGA-ZB-A961-01A-11D-A428-09		73994736	28536656	18	1123											
CHD9	80205	genome.wustl.edu	37	chr16	53260382	53260382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctatgaaaataaaaaagaaTtcagctcctttacctggtga	16	12	6	7	0	2	3	1	2	1	1	3	3	3	3	2	1	2	1	2	1	8	5			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr16:53260382T>G	ENST00000398510.3	+	4	2088	c.2001T>G	c.(1999-2001)aaT>aaG	p.N667K	CHD9_ENST00000566029.1_Missense_Mutation_p.N667K|CHD9_ENST00000564845.1_Missense_Mutation_p.N667K|CHD9_ENST00000447540.1_Missense_Mutation_p.N667K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	667					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)				TAAAAAAGAATTCAGCTCCTT	0.313																																							0											0													100	104	103					16																	53260382		1808	4069	5877	SO:0001583	missense	0			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.2001T>G	16.37:g.53260382T>G	ENSP00000381522:p.Asn667Lys		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.N667K	ENST00000398510.3	37	c.2001		16	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708398	0.30322	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.63913	-0.07;-0.07	5.39	-0.834	0.10779	.	0.412136	0.22565	N	0.058409	T	0.45337	0.1337	L	0.36672	1.1	0.37553	D	0.918776	B;B;B;B	0.28378	0.0;0.209;0.008;0.013	B;B;B;B	0.34536	0.001;0.185;0.007;0.017	T	0.36504	-0.9745	10	0.06625	T	0.88	-8.4652	9.8109	0.40822	0.0:0.3643:0.0:0.6357	.	193;667;667;667	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	K	667;667;193	ENSP00000396345:N667K;ENSP00000381522:N667K	ENSP00000219084:N193K	N	+	3	2	CHD9	51817883	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	0.487000	0.22356	-0.191000	0.10448	0.533000	0.62120	AAT	0	NULL		0.313	CHD9-020	KNOWN	basic	protein_coding	CHD9	protein_coding	OTTHUMT00000422345.1	140	268	0	0.00	0	0	T	NM_025134	0	0		53260382	1	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	67	161	25.56	27.23	23	61	SNP	0.977	G	G	53260382	T	G	53260382	3	3	92	1	0	0	0	0	1	0	0	0	3332	1490	52	5	2015	5	CHD9	16	53260382	Missense_Mutation	SNP	T	TCGA-ZB-A961-01A-11D-A428-09		53260382	37094371	19	1124											
ACOX1	51	genome.wustl.edu	37	chr17	73947523	73947523	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcactcaggtccccttgAccaatgccttcgttaatccg	8	12	7	14	2	2	1	2	1	0	0	5	1	4	1	5	1	1	2	5	1	2	4			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr17:73947523A>C	ENST00000301608.4	-	8	1140	c.1080T>G	c.(1078-1080)ggT>ggG	p.G360G	ACOX1_ENST00000293217.5_Silent_p.G360G|ACOX1_ENST00000537812.1_Silent_p.G322G	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	360					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GGTCCCCTTGACCAATGCCTT	0.507																																							0											0													157	138	144					17																	73947523		2203	4300	6503	SO:0001819	synonymous_variant	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1080T>G	17.37:g.73947523A>C			A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	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.G360	ENST00000301608.4	37	c.1080	CCDS11735.1	17																																																																																			0	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.507	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	protein_coding	OTTHUMT00000439503.1	76	223	0	0.00	0	0	A		0	0		73947523	-1	no_errors	ENST00000293217	ensembl	human	known	74_37	silent	33	157	10.81	19.07	4	37	SNP	0.429	C	C	73947523	A	C	73947523	2	2	92	1	0	0	0	0	0	0	0	1	158	262	10	5		5	ACOX1	17	73947523	Silent	SNP	A	TCGA-ZB-A961-01A-11D-A428-09		73947523	7247687	20	1125											
PIK3C3	5289	genome.wustl.edu	37	chr18	39575930	39575930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgaccacgatctgaaacCcaatgctgccacgagagatc	12	8	8	13	2	2	3	0	2	2	1	3	6	2	3	3	0	3	1	3	0	2	1			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr18:39575930C>A	ENST00000262039.4	+	8	949	c.863C>A	c.(862-864)cCc>cAc	p.P288H	PIK3C3_ENST00000398870.3_Missense_Mutation_p.P225H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	288	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|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)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GATCTGAAACCCAATGCTGCC	0.353										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)		0											0													54	54	54					18																	39575930		2203	4299	6502	SO:0001583	missense	0			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.863C>A	18.37:g.39575930C>A	ENSP00000262039:p.Pro288His		Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.P288H	ENST00000262039.4	37	c.863	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877235	0.91664	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.67171	-0.25;-0.25	5.45	5.45	0.79879	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89115	0.3499	9	.	.	.	.	19.6374	0.95740	0.0:1.0:0.0:0.0	.	225;288	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	H	288;225	ENSP00000262039:P288H;ENSP00000381845:P225H	.	P	+	2	0	PIK3C3	37829928	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.752000	0.85141	2.711000	0.92665	0.563000	0.77884	CCC	0	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34		0.353	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	protein_coding	OTTHUMT00000255804.1	237	247	0	0.80	0	2	C	NM_002647	0	0		39575930	1	no_errors	ENST00000262039	ensembl	human	known	74_37	missense	105	101	28.57	28.37	42	40	SNP	1	A	A	39575930	C	A	39575930	3	1	92	1	0	0	0	0	1	0	0	0	11912	623	22	5	893	5	PIK3C3	18	39575930	Missense_Mutation	SNP	C	TCGA-ZB-A961-01A-11D-A428-09		39575930	38501318	21	1126											
KIAA0406	9675	genome.wustl.edu	37	chr20	36642126	36642126	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagtcgtgtctgcagatgCtccacattctccactgtctg	6	14	9	12	1	3	1	0	0	3	1	6	1	4	1	2	0	2	3	2	0	1	2			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr20:36642126C>T	ENST00000373448.2	-	3	331	c.93G>A	c.(91-93)gaG>gaA	p.E31E	TTI1_ENST00000373447.3_Silent_p.E31E|TTI1_ENST00000449821.1_Silent_p.E31E|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	31					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						TCTGCAGATGCTCCACATTCT	0.517																																							0											0													142	119	127					20																	36642126		2203	4300	6503	SO:0001819	synonymous_variant	0			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.93G>A	20.37:g.36642126C>T			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.E31	ENST00000373448.2	37	c.93	CCDS13300.1	20																																																																																			0	superfamily_ARM-type_fold,pirsf_UCP005250		0.517	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	protein_coding	OTTHUMT00000079138.2	54	160	0	0.62	0	1	C	NM_014657	0	0		36642126	-1	no_errors	ENST00000373447	ensembl	human	known	74_37	silent	23	104	14.81	26.76	4	38	SNP	0.015	T	T	36642126	C	T	36642126	2	4	92	1	0	0	0	0	0	0	0	1	8173	796	28	3		3	KIAA0406	20	36642126	Silent	SNP	C	TCGA-ZB-A961-01A-11D-A428-09		36642126	26383394	22	1127											
SSTR3	6753	genome.wustl.edu	37	chr22	37602854	37602854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcacacggcgggagggcCgcagcaggaccctgcggaag	8	2	18	13	5	0	0	0	0	0	0	0	3	0	3	2	5	3	3	2	5	1	0			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chr22:37602854C>T	ENST00000328544.3	-	2	1522	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	SSTR3_ENST00000402501.1_Missense_Mutation_p.R330Q	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	330					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)	GCGGGAGGGCCGCAGCAGGAC	0.662																																							0											0													34	38	37					22																	37602854		2203	4299	6502	SO:0001583	missense	0				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.989G>A	22.37:g.37602854C>T	ENSP00000330138:p.Arg330Gln		A8K550|Q53ZR7	Missense_Mutation	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.R330Q	ENST00000328544.3	37	c.989	CCDS13944.1	22	.	.	.	.	.	.	.	.	.	.	C	32	5.189816	0.94923	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.39056	1.1;1.1	5.29	5.29	0.74685	.	0.078368	0.48286	D	0.000191	T	0.62478	0.2431	M	0.70275	2.135	0.52501	D	0.999952	D	0.89917	1.0	D	0.64776	0.929	T	0.58584	-0.7611	10	0.27785	T	0.31	.	18.9408	0.92604	0.0:1.0:0.0:0.0	.	330	P32745	SSR3_HUMAN	Q	330	ENSP00000330138:R330Q;ENSP00000384904:R330Q	ENSP00000330138:R330Q	R	-	2	0	SSTR3	35932800	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	7.797000	0.85911	2.460000	0.83146	0.563000	0.77884	CGG	0	prints_Somatstn_rcpt_3		0.662	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	protein_coding	OTTHUMT00000318802.1	99	46	0.99	0.00	1	0	C		0	0		37602854	-1	no_errors	ENST00000328544	ensembl	human	known	74_37	missense	67	24	23.86	29.41	21	10	SNP	1	T	T	37602854	C	T	37602854	3	4	92	1	0	0	0	0	1	0	0	0	15198	652	23	2	271	2	SSTR3	22	37602854	Missense_Mutation	SNP	C	TCGA-ZB-A961-01A-11D-A428-09		37602854	13701712	23	1128											
MAGEB18	286514	genome.wustl.edu	37	chrX	26157793	26157793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatgatgggtgtatatgccGataggaagcacttcctctat	11	13	10	7	1	1	1	0	1	1	0	2	3	2	2	2	2	2	2	2	2	6	6			TCGA-ZB-A961-01A-11D-A428-09	TCGA-ZB-A961-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	80295400-7173-4245-a86f-ba2596ed60a7	045a7819-c3d5-4330-b70e-31240a4af916	g.chrX:26157793G>A	ENST00000325250.1	+	2	878	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	231	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)		p.D231N(1)		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						TGTATATGCCGATAGGAAGCA	0.498																																							0											1	Substitution - Missense(1)	cervix(1)											49	43	45					X																	26157793		2202	4300	6502	SO:0001583	missense	0			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.691G>A	X.37:g.26157793G>A	ENSP00000314543:p.Asp231Asn			Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.D231N	ENST00000325250.1	37	c.691	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	G	5.343	0.248606	0.10130	.	.	ENSG00000176774	ENST00000325250	T	0.04654	3.58	4.56	2.44	0.29823	.	0.414727	0.26859	N	0.022129	T	0.03263	0.0095	N	0.20807	0.61	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.39354	-0.9618	10	0.59425	D	0.04	.	5.4632	0.16627	0.3089:0.0:0.6911:0.0	.	231	Q96M61	MAGBI_HUMAN	N	231	ENSP00000314543:D231N	ENSP00000314543:D231N	D	+	1	0	MAGEB18	26067714	0.181000	0.23161	0.137000	0.22149	0.059000	0.15707	0.957000	0.29215	0.473000	0.27368	0.600000	0.82982	GAT	0	pfam_MAGE,pfscan_MAGE		0.498	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	protein_coding	OTTHUMT00000056120.1	32	113	0	0.00	0	0	G	NM_173699	0	0		26157793	1	no_errors	ENST00000325250	ensembl	human	known	74_37	missense	17	71	46.88	44.53	15	57	SNP	0.136	A	A	26157793	G	A	26157793	3	1	92	1	0	0	0	0	1	0	0	0	9175	1058	37	2	693	2	MAGEB18	23	26157793	Missense_Mutation	SNP	G	TCGA-ZB-A961-01A-11D-A428-09		26157793	129112767	24	1129											
CD200R1	131450	genome.wustl.edu	37	chr3	112648204	112648204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtacagttggtttccttgGtctcatttgtttctttcttg	4	21	8	8	0	3	0	1	0	3	0	5	0	4	0	1	2	1	4	1	2	1	8			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr3:112648204G>A	ENST00000471858.1	-	3	516	c.284C>T	c.(283-285)aCc>aTc	p.T95I	CD200R1_ENST00000308611.3_Missense_Mutation_p.T118I|CD200R1_ENST00000490004.1_Missense_Mutation_p.T95I|CD200R1_ENST00000440122.2_Missense_Mutation_p.T118I|CD200R1_ENST00000295863.4_Missense_Mutation_p.T73I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	95	Ig-like V-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GGTTTCCTTGGTCTCATTTGT	0.448																																							0											0													180	171	174					3																	112648204		2203	4300	6503	SO:0001583	missense	0			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.284C>T	3.37:g.112648204G>A	ENSP00000418928:p.Thr95Ile		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like_dom	p.T118I	ENST00000471858.1	37	c.353	CCDS2970.1	3	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837049	0.50951	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.65732	1.52;1.52;1.52;-0.17;-0.17	5.36	2.57	0.30868	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.347798	0.28521	N	0.015059	T	0.52980	0.1768	L	0.56280	1.765	0.09310	N	0.999998	B;P;P;B;B	0.49961	0.298;0.93;0.93;0.192;0.172	B;B;B;B;B	0.44044	0.065;0.323;0.439;0.106;0.084	T	0.41963	-0.9479	10	0.22706	T	0.39	.	6.9633	0.24610	0.2829:0.0:0.7171:0.0	.	73;95;118;95;118	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	I	95;118;73;118;95	ENSP00000418928:T95I;ENSP00000311035:T118I;ENSP00000295863:T73I;ENSP00000405733:T118I;ENSP00000418801:T95I	ENSP00000295863:T73I	T	-	2	0	CD200R1	114130894	0.005000	0.15991	0.273000	0.24645	0.508000	0.34012	0.259000	0.18405	0.619000	0.30197	-0.259000	0.10710	ACC	0	NULL		0.448	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200R1	protein_coding	OTTHUMT00000354467.1	43	58	0	1.69	0	1	G	NM_138806	0	0		112648204	-1	no_errors	ENST00000308611	ensembl	human	known	74_37	missense	16	19	42.86	44.12	12	15	SNP	0.127	A	A	112648204	G	A	112648204	3	1	93	1	0	0	0	0	1	0	0	0	2981	1261	44	3	760	3	CD200R1	3	112648204	Missense_Mutation	SNP	G	TCGA-ZB-A962-01A-11D-A428-09		112648204	85374226	1	1130											
SPATA16	83893	genome.wustl.edu	37	chr3	172631487	172631487	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacacgttcattattgttTcttcttccttcaagggtgtc	7	17	6	11	1	4	0	2	0	2	0	6	0	5	0	1	1	0	2	1	1	2	7			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr3:172631487T>C	ENST00000351008.3	-	10	1734	c.1551A>G	c.(1549-1551)agA>agG	p.R517R		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	517					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CATTATTGTTTCTTCTTCCTT	0.368																																							0											0													122	111	115					3																	172631487		2203	4300	6503	SO:0001819	synonymous_variant	0			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1551A>G	3.37:g.172631487T>C			Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	NULL	p.R517	ENST00000351008.3	37	c.1551	CCDS3221.1	3																																																																																			0	NULL		0.368	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA16	protein_coding	OTTHUMT00000346322.1	125	277	0	0.00	0	0	T	NM_031955	0	0		172631487	-1	no_errors	ENST00000351008	ensembl	human	known	74_37	silent	65	152	39.81	37.45	43	91	SNP	0.901	C	C	172631487	T	C	172631487	2	2	93	1	0	0	0	0	0	0	0	1	15000	1780	62	3		3	SPATA16	3	172631487	Silent	SNP	T	TCGA-ZB-A962-01A-11D-A428-09	59983283	172631487	25390943	2	1131											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5146385	5146385	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgaaaggctccaggcaCgacttccacatggatctgag	10	7	12	12	2	1	2	0	2	1	0	3	4	3	3	2	4	0	3	2	4	1	1			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr5:5146385C>T	ENST00000274181.7	+	3	456	c.318C>T	c.(316-318)caC>caT	p.H106H	ADAMTS16_ENST00000511368.1_Silent_p.H106H|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	106					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						GCTCCAGGCACGACTTCCACA	0.537																																							0											0													75	76	76					5																	5146385		1998	4172	6170	SO:0001819	synonymous_variant	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.318C>T	5.37:g.5146385C>T			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.H106	ENST00000274181.7	37	c.318	CCDS43299.1	5																																																																																			0	pfam_Peptidase_M12B_N		0.537	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	protein_coding	OTTHUMT00000365657.1	28	126	0	0.00	0	0	C	NM_139056	0	0		5146385	1	no_errors	ENST00000274181	ensembl	human	known	74_37	silent	10	52	41.18	45.83	7	44	SNP	0.018	T	T	5146385	C	T	5146385	2	4	93	1	0	0	0	0	0	0	0	1	261	535	19	1		1	ADAMTS16	5	5146385	Silent	SNP	C	TCGA-ZB-A962-01A-11D-A428-09		5146385	175768875	3	1132											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	326	143	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	128	84	44.35	36.36	102	48	SNP	1	A	A	74146970	T	A	74146970	3	1	93	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A962-01A-11D-A428-09		74146970	84991693	4	1133											
PDK4	5166	genome.wustl.edu	37	chr7	95223079	95223079	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatccatcaggctctgtatAtacctgtaaagaaacaggta	16	10	7	8	0	2	1	1	0	1	1	3	1	3	1	2	2	2	4	2	2	8	5			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr7:95223079A>G	ENST00000005178.5	-	3	473	c.276T>C	c.(274-276)taT>taC	p.Y92Y	AC002451.3_ENST00000416502.1_RNA|AC002451.3_ENST00000432265.1_RNA	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	92					cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GGCTCTGTATATACCTGTAAA	0.313																																							0											0													87	89	88					7																	95223079		2203	4300	6503	SO:0001819	synonymous_variant	0			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.276T>C	7.37:g.95223079A>G				Silent	SNP	pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.Y92	ENST00000005178.5	37	c.276	CCDS5643.1	7																																																																																			0	pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N		0.313	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK4	protein_coding	OTTHUMT00000333298.1	54	267	0	0.00	0	0	A	NM_002612	0	0		95223079	-1	no_errors	ENST00000005178	ensembl	human	known	74_37	silent	26	204	16.13	10.92	5	25	SNP	1	G	G	95223079	A	G	95223079	2	3	93	1	0	0	0	0	0	0	0	1	11678	456	16	3		3	PDK4	7	95223079	Silent	SNP	A	TCGA-ZB-A962-01A-11D-A428-09	21076109	95223079	63915584	5	1134											
PRKAR2B	5577	genome.wustl.edu	37	chr7	106797706	106797706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtactttggagagcttGccctggtaactaacaaacct	12	10	9	10	0	0	1	0	0	0	1	0	3	0	1	2	2	6	3	2	2	4	5			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr7:106797706G>T	ENST00000265717.4	+	10	1319	c.1060G>T	c.(1060-1062)Gcc>Tcc	p.A354S		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	354					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						TGGAGAGCTTGCCCTGGTAAC	0.498																																							0											0													125	110	115					7																	106797706		2203	4300	6503	SO:0001583	missense	0				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.1060G>T	7.37:g.106797706G>T	ENSP00000265717:p.Ala354Ser		A4D0R9	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.A354S	ENST00000265717.4	37	c.1060	CCDS5740.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.229447	0.95173	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.93189	-3.18	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	0.97015	0.9025	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96886	0.9649	10	0.87932	D	0	-5.2593	20.4238	0.99064	0.0:0.0:1.0:0.0	.	354	P31323	KAP3_HUMAN	S	354;354;341	ENSP00000265717:A354S	ENSP00000265717:A354S	A	+	1	0	PRKAR2B	106584942	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.773000	0.85462	2.828000	0.97474	0.655000	0.94253	GCC	0	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		0.498	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2B	protein_coding	OTTHUMT00000268386.1	49	288	0	0.35	0	1	G		0	0		106797706	1	no_errors	ENST00000265717	ensembl	human	known	74_37	missense	19	109	50	40.86	19	76	SNP	1	T	T	106797706	G	T	106797706	3	4	93	1	0	0	0	0	1	0	0	0	12506	1319	46	5	1098	5	PRKAR2B	7	106797706	Missense_Mutation	SNP	G	TCGA-ZB-A962-01A-11D-A428-09	11574627	106797706	52340957	6	1135											
FAM22F	54754	genome.wustl.edu	37	chr9	97083468	97083468	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccccttcatccactGcgatttctgaatctgcatct	6	13	8	14	1	4	1	1	1	3	0	5	2	5	1	3	2	2	1	3	2	1	2			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr9:97083468G>A	ENST00000253262.4	-	4	909	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	NUTM2F_ENST00000335456.7_Nonsense_Mutation_p.Q297*|NUTM2F_ENST00000341207.4_Nonsense_Mutation_p.Q297*	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	297																	TTCATCCACTGCGATTTCTGA	0.647																																							0											0													6	7	6					9																	97083468		1020	2142	3162	SO:0001587	stop_gained	0				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.889C>T	9.37:g.97083468G>A	ENSP00000253262:p.Gln297*		B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Nonsense_Mutation	SNP	NULL	p.Q297*	ENST00000253262.4	37	c.889	CCDS47994.1	9	.	.	.	.	.	.	.	.	.	.	.	13.15	2.149973	0.37923	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	.	.	.	1.2	1.2	0.21068	.	1.663620	0.03125	N	0.164262	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.8356	0.18605	0.0:0.0:1.0:0.0	.	.	.	.	X	297	.	ENSP00000253262:Q297X	Q	-	1	0	FAM22F	96123289	0.001000	0.12720	0.013000	0.15412	0.087000	0.18053	0.065000	0.14466	0.992000	0.38840	0.456000	0.33151	CAG	0	NULL		0.647	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUTM2F	protein_coding	OTTHUMT00000053173.2	121	0	0	0.00	0	0	G	NM_017561	0	0		97083468	-1	no_errors	ENST00000253262	ensembl	human	known	74_37	nonsense	45	0	8.16	0.00	4	0	SNP	0.015	A	A	97083468	G	A	97083468	4	1	93	1	0	0	0	0	0	1	0	0	5545	1328	46	3	1397	3	FAM22F	9	97083468	Nonsense_Mutation	SNP	G	TCGA-ZB-A962-01A-11D-A428-09		97083468	44129963	7	1136											
NRG3	10718	genome.wustl.edu	37	chr10	83926565	83926565	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtgggtctgctgctgaCgaattcatacaaattttgta	10	15	10	6	1	2	1	1	1	1	0	2	2	2	1	0	1	3	3	0	1	5	6	rs201815957		TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr10:83926565C>T	ENST00000404547.1	+	2	823				NRG3_ENST00000372142.2_Missense_Mutation_p.T48M|NRG3_ENST00000556918.1_Missense_Mutation_p.T73M|NRG3_ENST00000372141.2_Intron|NRG3_ENST00000404576.2_Missense_Mutation_p.T73M			P56975	NRG3_HUMAN	neuregulin 3						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)		ctgctgctgacgaattcatac	0.323																																							0											0													205	176	185					10																	83926565		692	1591	2283	SO:0001627	intron_variant	0			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.824-191930C>T	10.37:g.83926565C>T			A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfscan_EG-like_dom	p.T48M	ENST00000404547.1	37	c.143	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	C	3.625	-0.076644	0.07184	.	.	ENSG00000185737	ENST00000372142;ENST00000404576;ENST00000556918	T;T;T	0.49720	1.43;0.77;1.32	2.24	-2.06	0.07298	.	.	.	.	.	T	0.28167	0.0695	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21348	-1.0248	9	0.66056	D	0.02	.	5.8566	0.18722	0.0:0.4706:0.0:0.5294	.	48	P56975-3	.	M	48;73;73	ENSP00000361215:T48M;ENSP00000385804:T73M;ENSP00000451376:T73M	ENSP00000385804:T48M	T	+	2	0	NRG3	83916545	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.050000	0.11904	-0.412000	0.07519	-0.624000	0.04008	ACG	0	NULL		0.323	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	protein_coding	OTTHUMT00000412262.1	49	288	0	0.00	0	0	C	XM_166086	rs201815957	C->T		83926565	1	no_errors	ENST00000372142	ensembl	human	known	74_37	missense	25	118	43.18	40.20	19	80	SNP	0.001	T	T	83926565	C	T	83926565	1	4	93	0	1	0	0	0	0	0	0	0	10649	536	19	1		1	NRG3	10	83926565	Intron	SNP	C	TCGA-ZB-A962-01A-11D-A428-09		83926565	51608182	8	1137											
HRAS	3265	genome.wustl.edu	37	chr11	534289	534289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcttgcccacaccgcCggcgcccaccaccaccagct	7	4	7	23	4	1	0	0	0	1	0	1	0	1	0	7	1	2	2	7	1	0	1	rs104894229		TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr11:534289C>G	ENST00000451590.1	-	2	221	c.34G>C	c.(34-36)Ggc>Cgc	p.G12R	HRAS_ENST00000397594.1_Missense_Mutation_p.G12R|HRAS_ENST00000311189.7_Missense_Mutation_p.G12R|HRAS_ENST00000417302.1_Missense_Mutation_p.G12R|HRAS_ENST00000397596.2_Missense_Mutation_p.G12R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;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)		CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	95	Substitution - Missense(95)	upper_aerodigestive_tract(33)|urinary_tract(15)|skin(11)|thyroid(10)|cervix(7)|soft_tissue(5)|salivary_gland(5)|pituitary(3)|large_intestine(2)|lung(1)|penis(1)|prostate(1)|bone(1)	GRCh37	CM053283|CM061797	HRAS	M	rs104894229						78	74	76					11																	534289		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.34G>C	11.37:g.534289C>G	ENSP00000407586:p.Gly12Arg		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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.G12R	ENST00000451590.1	37	c.34	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712431	0.68730	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	M	0.67625	2.065	0.80722	D	1	P;P	0.46457	0.851;0.878	P;P	0.53954	0.619;0.738	D	0.85406	0.1134	10	0.66056	D	0.02	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	R	12	ENSP00000380722:G12R;ENSP00000380723:G12R;ENSP00000407586:G12R;ENSP00000388246:G12R;ENSP00000309845:G12R	ENSP00000309845:G12R	G	-	1	0	HRAS	524289	1.000000	0.71417	0.332000	0.25469	0.311000	0.27955	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC	0	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	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	29	94	0	0.00	0	0	C	NM_176795	rs104894229	C->A,G,T		534289	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	10	54	33.33	47.06	5	48	SNP	0.998	G	G	534289	C	G	534289	3	3	93	1	0	0	0	0	1	0	0	0	7348	652	23	5	618	5	HRAS	11	534289	Missense_Mutation	SNP	C	TCGA-ZB-A962-01A-11D-A428-09		534289	134472227	9	1138											
MUC2	4583	genome.wustl.edu	37	chr11	1090373	1090373	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagtcgtctgcaggccGgaggaaggtaagctgccctc	8	7	13	13	2	1	0	0	0	1	0	4	2	2	2	3	4	3	3	3	4	3	1	rs146744772		TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr11:1090373G>A	ENST00000441003.2	+	27	3696	c.3669G>A	c.(3667-3669)ccG>ccA	p.P1223P	MUC2_ENST00000361558.6_5'Flank|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1223					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)	TCTGCAGGCCGGAGGAAGGTA	0.652																																							0.9998,.,0.0001997											0										1,4379		0,1,2189	58	63	61		3669	-4.9	0	11	dbSNP_134	61	0,8558		0,0,4279	no	coding-synonymous	MUC2	NM_002457.2		0,1,6468	AA,AG,GG		0.0,0.0228,0.0077		1223/2813	1090373	1,12937	2190	4279	6469	SO:0001819	synonymous_variant	0			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.3669G>A	11.37:g.1090373G>A			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.P1223	ENST00000441003.2	37	c.3669		11																																																																																			0	NULL		0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	18	95	0	1.04	0	1	G	NM_002457	rs146744772	G->A,T		1090373	1	no_errors	ENST00000441003	ensembl	human	known	74_37	silent	8	41	46.67	43.84	7	32	SNP	0	A	A	1090373	G	A	1090373	2	1	93	1	0	0	0	0	0	0	0	1	9975	1103	39	2		2	MUC2	11	1090373	Silent	SNP	G	TCGA-ZB-A962-01A-11D-A428-09	556084	1090373	133916143	10	1139											
C12orf64	283310	genome.wustl.edu	37	chr12	80722865	80722865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagaaccaacattaatGccaccagctaagccaactgt	15	6	5	15	0	0	1	0	0	0	1	0	1	0	1	5	0	6	1	5	0	5	2			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr12:80722865G>T	ENST00000547103.1	+	36	4293	c.4287G>T	c.(4285-4287)atG>atT	p.M1429I	OTOGL_ENST00000458043.2_Missense_Mutation_p.M1429I			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1429					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						CAACATTAATGCCACCAGCTA	0.338																																							0											0													88	85	85					12																	80722865		1879	4116	5995	SO:0001583	missense	0			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.4287G>T	12.37:g.80722865G>T	ENSP00000447211:p.Met1429Ile		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.M1429I	ENST00000547103.1	37	c.4287		12	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.619744	0.00828	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.14766	2.51;2.48	4.42	-0.888	0.10583	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.39840	-0.9594	7	0.21014	T	0.42	.	0.881	0.01234	0.2806:0.1478:0.3995:0.172	.	.	.	.	I	1429	ENSP00000447211:M1429I;ENSP00000400895:M1429I	ENSP00000400895:M1429I	M	+	3	0	OTOGL	79246996	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-1.690000	0.01922	-0.291000	0.09012	-0.964000	0.02622	ATG	0	NULL		0.338	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	protein_coding	OTTHUMT00000407438.1	81	322	1.22	0.00	1	0	G	NM_173591	0	0		80722865	1	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	39	218	40.58	35.12	28	118	SNP	0	T	T	80722865	G	T	80722865	3	4	93	1	0	0	0	0	1	0	0	0	1707	1319	46	5	4429	5	C12orf64	12	80722865	Missense_Mutation	SNP	G	TCGA-ZB-A962-01A-11D-A428-09		80722865	53129030	11	1140											
CATSPERB	79820	genome.wustl.edu	37	chr14	92055900	92055900	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttccagttgtgcctcatGttcacttcagtcacagtaac	9	14	7	11	0	4	0	4	0	0	0	5	0	5	0	2	0	2	4	2	0	1	5			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr14:92055900G>C	ENST00000256343.3	-	24	3090	c.2934C>G	c.(2932-2934)aaC>aaG	p.N978K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	978					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)				TGTGCCTCATGTTCACTTCAG	0.358																																							0											0													109	101	104					14																	92055900		2203	4300	6503	SO:0001583	missense	0			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.2934C>G	14.37:g.92055900G>C	ENSP00000256343:p.Asn978Lys		A0AV51	Missense_Mutation	SNP	superfamily_Sialidases	p.N978K	ENST00000256343.3	37	c.2934	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629436	0.28978	.	.	ENSG00000133962	ENST00000256343	T	0.63096	-0.02	5.1	-5.67	0.02444	.	0.000000	0.56097	D	0.000033	T	0.71567	0.3355	M	0.64404	1.975	0.20926	N	0.99982	D	0.89917	1.0	D	0.87578	0.998	T	0.71024	-0.4712	10	0.87932	D	0	-30.7608	16.0004	0.80290	0.2665:0.0:0.7335:0.0	.	978	Q9H7T0	CTSRB_HUMAN	K	978	ENSP00000256343:N978K	ENSP00000256343:N978K	N	-	3	2	CATSPERB	91125653	0.000000	0.05858	0.010000	0.14722	0.128000	0.20619	-0.662000	0.05305	-0.920000	0.03799	-0.367000	0.07326	AAC	0	NULL		0.358	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	protein_coding	OTTHUMT00000411769.1	100	372	0	0.00	0	0	G	NM_024764	0	0		92055900	-1	no_errors	ENST00000256343	ensembl	human	known	74_37	missense	37	161	37.29	27.48	22	61	SNP	0.003	C	C	92055900	G	C	92055900	3	2	93	1	0	0	0	0	1	0	0	0	2691	1368	48	5	432	5	CATSPERB	14	92055900	Missense_Mutation	SNP	G	TCGA-ZB-A962-01A-11D-A428-09		92055900	15293640	12	1141											
C14orf73	91828	genome.wustl.edu	37	chr14	103570659	103570659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagcagagtcactgggCggccgccgaggtccccgagg	6	4	18	13	4	1	1	1	0	0	1	2	4	2	2	4	5	1	2	4	5	0	0			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr14:103570659C>A	ENST00000380069.3	+	4	1293	c.1217C>A	c.(1216-1218)gCg>gAg	p.A406E		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	406					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						AGTCACTGGGCGGCCGCCGAG	0.687																																							0											0													10	12	11					14																	103570659		2188	4293	6481	SO:0001583	missense	0			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.1217C>A	14.37:g.103570659C>A	ENSP00000369409:p.Ala406Glu		Q14CR2	Missense_Mutation	SNP	pfam_Sec6	p.A406E	ENST00000380069.3	37	c.1217	CCDS32163.1	14	.	.	.	.	.	.	.	.	.	.	C	0.668	-0.803179	0.02841	.	.	ENSG00000205436	ENST00000380069	T	0.06528	3.29	4.18	-2.7	0.06004	.	0.665977	0.14024	N	0.346640	T	0.02970	0.0088	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.46911	-0.9157	10	0.02654	T	1	-4.2103	3.2771	0.06902	0.3063:0.3183:0.0:0.3754	.	406	Q17RC7	EX3L4_HUMAN	E	406	ENSP00000369409:A406E	ENSP00000369409:A406E	A	+	2	0	EXOC3L4	102640412	0.005000	0.15991	0.001000	0.08648	0.081000	0.17604	-0.056000	0.11787	-0.925000	0.03775	-0.284000	0.09977	GCG	0	pfam_Sec6		0.687	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	protein_coding	OTTHUMT00000415663.1	21	56	0	0.00	0	0	C	XM_941093	0	0		103570659	1	no_errors	ENST00000380069	ensembl	human	known	74_37	missense	7	8	46.15	69.23	6	18	SNP	0	A	A	103570659	C	A	103570659	3	1	93	1	0	0	0	0	1	0	0	0	1779	768	27	5	1231	5	C14orf73	14	103570659	Missense_Mutation	SNP	C	TCGA-ZB-A962-01A-11D-A428-09	11514759	103570659	3778881	13	1142											
FLYWCH1	84256	genome.wustl.edu	37	chr16	2983738	2983738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctgagttcctgaagaCgcccctggggggcagcttcc	6	7	14	14	1	0	3	0	2	0	1	2	3	2	3	5	4	1	3	5	4	1	2	rs546346078		TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr16:2983738C>T	ENST00000253928.9	+	6	1676	c.1271C>T	c.(1270-1272)aCg>aTg	p.T424M	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T423M|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.T424M			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	424						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						TTCCTGAAGACGCCCCTGGGG	0.677													.|||	1	0.000199681	0	0	5008	,	,		14781	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0													19	23	22					16																	2983738		1860	4087	5947	SO:0001583	missense	0			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1271C>T	16.37:g.2983738C>T	ENSP00000253928:p.Thr424Met		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	pfam_Znf_FLYWCH	p.T424M	ENST00000253928.9	37	c.1271		16	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970759	0.53614	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.64	3.64	0.41730	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.63908	0.2551	M	0.64404	1.975	0.29987	N	0.817173	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.59931	-0.7361	8	0.87932	D	0	.	11.1295	0.48339	0.0:1.0:0.0:0.0	.	424;424;423	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	M	424;424;423	.	ENSP00000253928:T424M	T	+	2	0	FLYWCH1	2923739	0.138000	0.22547	0.974000	0.42286	0.658000	0.38924	1.963000	0.40452	2.324000	0.78689	0.462000	0.41574	ACG	0	pfam_Znf_FLYWCH		0.677	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	FLYWCH1	protein_coding	OTTHUMT00000436479.1	67	28	0	0.00	0	0	C	NM_032296	rs546346078	C->T		2983738	1	no_errors	ENST00000399667	ensembl	human	known	74_37	missense	46	19	25.81	40.62	16	13	SNP	0.98	T	T	2983738	C	T	2983738	3	4	93	1	0	0	0	0	1	0	0	0	5947	536	19	1	1282	1	FLYWCH1	16	2983738	Missense_Mutation	SNP	C	TCGA-ZB-A962-01A-11D-A428-09		2983738	87371015	14	1143											
SLC9A5	6553	genome.wustl.edu	37	chr16	67298985	67298985	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctacaaatgggaaacatCgaggcctgggctttcaggac	12	7	13	9	1	1	0	1	0	0	0	2	3	1	2	1	5	2	2	1	5	3	2			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr16:67298985C>T	ENST00000299798.11	+	14	2121	c.2056C>T	c.(2056-2058)Cga>Tga	p.R686*	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	686					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGGAAACATCGAGGCCTGGG	0.592																																							0											0													96	100	99					16																	67298985		1987	4178	6165	SO:0001587	stop_gained	0				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2056C>T	16.37:g.67298985C>T	ENSP00000299798:p.Arg686*		A5PKY7|Q9Y626	Nonsense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.R686*	ENST00000299798.11	37	c.2056	CCDS42178.1	16	.	.	.	.	.	.	.	.	.	.	C	11.71	1.721305	0.30503	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	.	.	.	3.37	3.37	0.38596	.	1.053550	0.07438	N	0.896899	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	10.5647	0.45165	0.0:1.0:0.0:0.0	.	.	.	.	X	686;199	.	ENSP00000299798:R686X	R	+	1	2	SLC9A5	65856486	0.995000	0.38212	1.000000	0.80357	0.784000	0.44337	0.628000	0.24522	1.593000	0.50029	0.313000	0.20887	CGA	0	NULL		0.592	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	protein_coding	OTTHUMT00000421386.1	33	185	0	0.00	0	0	C		0	0		67298985	1	no_errors	ENST00000299798	ensembl	human	known	74_37	nonsense	18	61	33.33	46.96	9	54	SNP	0.997	T	T	67298985	C	T	67298985	4	4	93	1	0	0	0	0	0	1	0	0	14717	876	31	2	2110	2	SLC9A5	16	67298985	Nonsense_Mutation	SNP	C	TCGA-ZB-A962-01A-11D-A428-09	64315247	67298985	23055768	15	1144											
SPG7	6687	genome.wustl.edu	37	chr16	89616931	89616931	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagcaagatcctgtccAaggaagaacagaaagtggtt	18	6	11	6	0	0	4	0	0	0	4	2	5	2	5	2	2	2	2	2	2	7	1			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr16:89616931A>G	ENST00000268704.2	+	13	1708	c.1693A>G	c.(1693-1695)Aag>Gag	p.K565E		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	565					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)		GATCCTGTCCAAGGAAGAACA	0.587																																							0											0													113	104	107					16																	89616931		2198	4300	6498	SO:0001583	missense	0			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.1693A>G	16.37:g.89616931A>G	ENSP00000268704:p.Lys565Glu		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.K565E	ENST00000268704.2	37	c.1693	CCDS10977.1	16	.	.	.	.	.	.	.	.	.	.	A	12.19	1.862424	0.32884	.	.	ENSG00000197912	ENST00000268704	D	0.83591	-1.74	5.84	4.73	0.59995	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.132632	0.64402	D	0.000002	T	0.64940	0.2644	N	0.02192	-0.645	0.80722	D	1	B	0.13594	0.008	B	0.19666	0.026	T	0.61520	-0.7046	10	0.62326	D	0.03	-21.7037	12.6751	0.56889	0.6757:0.3243:0.0:0.0	.	565	Q9UQ90	SPG7_HUMAN	E	565	ENSP00000268704:K565E	ENSP00000268704:K565E	K	+	1	0	SPG7	88144432	1.000000	0.71417	0.938000	0.37757	0.448000	0.32197	4.701000	0.61810	1.018000	0.39521	-0.466000	0.05196	AAG	0	pfam_Peptidase_M41,tigrfam_FtsH		0.587	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG7	protein_coding	OTTHUMT00000269921.2	51	114	0	0.00	0	0	A	NM_003119	0	0		89616931	1	no_errors	ENST00000268704	ensembl	human	known	74_37	missense	53	76	10	16.48	6	15	SNP	0.996	G	G	89616931	A	G	89616931	3	3	93	1	0	0	0	0	1	0	0	0	15043	131	5	3	1893	3	SPG7	16	89616931	Missense_Mutation	SNP	A	TCGA-ZB-A962-01A-11D-A428-09	22317946	89616931	737822	16	1145											
SLC47A1	55244	genome.wustl.edu	37	chr17	19480698	19480701	+	Frame_Shift_Del	DEL	TCAG	TCAG	-																															gttggaaagacaggcgagccTcagtcagatcagcagatgcg																										TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	TCAG	TCAG	TCAG	-	TCAG	TCAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr17:19480698_19480701delTCAG	ENST00000270570.4	+	17	1631_1634	c.1545_1548delTCAG	c.(1543-1548)cctcagfs	p.PQ515fs	AC025627.7_ENST00000420951.1_RNA|SLC47A1_ENST00000571335.1_Frame_Shift_Del_p.PQ261fs|SLC47A1_ENST00000575023.1_Frame_Shift_Del_p.PQ213fs|SLC47A1_ENST00000395585.1_Frame_Shift_Del_p.PQ515fs|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Frame_Shift_Del_p.PQ515fs|SLC47A1_ENST00000436810.2_3'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	515					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)	CAGGCGAGCCTCAGTCAGATCAGC	0.505																																							0											0																																										SO:0001589	frameshift_variant	0				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.1545_1548delTCAG	17.37:g.19480702_19480705delTCAG	ENSP00000270570:p.Pro515fs		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Frame_Shift_Del	DEL	pfam_MATE,tigrfam_MATE	p.S517fs	ENST00000270570.4	37	c.1545_1548	CCDS11209.1	17																																																																																			0	NULL		0.505	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	protein_coding	OTTHUMT00000132250.1	74	224	0	0.00	0	0	TCAG	NM_018242	0	0		19480701	1	no_errors	ENST00000395585	ensembl	human	known	74_37	frame_shift_del	41	189	29.31	22.22	17	54	DEL	0.000:0.002:0.000:0.000	0	-	19480701	TCAG	-	19480698	7	5	93	1	0	1	0	1	0	0	0	0	14647	1538	54	0	1611	0	SLC47A1	17	19480698	Frame_Shift_Del	DEL	TCAG	TCGA-ZB-A962-01A-11D-A428-09		19480698	61714512	17	1146											
NF1	4763	genome.wustl.edu	37	chr17	29677284	29677284	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttactgatatttcaatgGaaaatgttcctatggataca	13	16	6	6	0	2	1	1	1	1	0	3	3	3	3	1	2	2	1	1	2	7	7			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr17:29677284G>T	ENST00000358273.4	+	50	7788	c.7405G>T	c.(7405-7407)Gaa>Taa	p.E2469*	NF1_ENST00000417592.2_Nonsense_Mutation_p.E182*|NF1_ENST00000444181.2_Nonsense_Mutation_p.E262*|NF1_ENST00000356175.3_Nonsense_Mutation_p.E2448*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2469					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)		TATTTCAATGGAAAATGTTCC	0.358			"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)																													0	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)											133	119	124					17																	29677284		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7405G>T	17.37:g.29677284G>T	ENSP00000351015:p.Glu2469*		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.E2469*	ENST00000358273.4	37	c.7405	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876013	0.91664	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.57	5.57	0.84162	.	0.052891	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.5321	0.95234	0.0:0.0:1.0:0.0	.	.	.	.	X	2469;2448;2114;262;182	.	ENSP00000348498:E2448X	E	+	1	0	NF1	26701410	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.929000	0.92859	2.626000	0.88956	0.563000	0.77884	GAA	0	superfamily_ARM-type_fold		0.358	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	76	261	0	0.00	0	0	G	NM_000267	0	0		29677284	1	no_errors	ENST00000358273	ensembl	human	known	74_37	nonsense	63	256	17.11	26.78	13	94	SNP	1	T	T	29677284	G	T	29677284	4	4	93	1	0	0	0	0	0	1	0	0	10356	1175	41	5	7664	5	NF1	17	29677284	Nonsense_Mutation	SNP	G	TCGA-ZB-A962-01A-11D-A428-09	10196586	29677284	51517926	18	1147											
CRHR1	1394	genome.wustl.edu	37	chr17	43884403	43884403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctggggctgaaccccGtctctgcctccctccaggac	4	10	9	18	1	2	1	0	1	2	0	6	2	5	2	6	3	2	1	6	3	1	1			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr17:43884403G>A	ENST00000398285.3	+	2	61	c.61G>A	c.(61-63)Gtc>Atc	p.V21I	CRHR1_ENST00000577353.1_Missense_Mutation_p.V21I|RP11-105N13.4_ENST00000587305.1_RNA|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000314537.5_Missense_Mutation_p.V21I|CRHR1_ENST00000339069.5_5'UTR|CRHR1_ENST00000352855.5_Missense_Mutation_p.V21I	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	21					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCTGAACCCCGTCTCTGCCTC	0.617																																					Ovarian(110;57 1568 10207 38216 49865)		0											0													65	72	70					17																	43884403		2102	4239	6341	SO:0001583	missense	0			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.61G>A	17.37:g.43884403G>A	ENSP00000381333:p.Val21Ile		B4DIE9|Q13008|Q4QRJ1|Q9UK64	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_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt	p.V21I	ENST00000398285.3	37	c.61	CCDS45712.1	17	.	.	.	.	.	.	.	.	.	.	G	8.773	0.926468	0.18056	.	.	ENSG00000120088	ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T	0.52526	0.66;0.66;0.66;0.87	4.14	0.664	0.17890	.	0.802209	0.11129	N	0.596589	T	0.22820	0.0551	N	0.08118	0	0.26118	N	0.980589	B;B;B;B	0.12013	0.0;0.005;0.0;0.001	B;B;B;B	0.06405	0.0;0.002;0.0;0.001	T	0.25984	-1.0116	10	0.12766	T	0.61	.	7.8635	0.29524	0.2589:0.0:0.7411:0.0	.	21;21;21;21	P34998-4;P34998;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.	I	21	ENSP00000381333:V21I;ENSP00000326060:V21I;ENSP00000239167:V21I;ENSP00000344068:V21I	ENSP00000326060:V21I	V	+	1	0	CRHR1	41240183	0.018000	0.18449	0.282000	0.24776	0.575000	0.36095	0.521000	0.22893	0.047000	0.15862	0.555000	0.69702	GTC	0	prints_GPCR_2_CRF1_rcpt		0.617	CRHR1-001	KNOWN	basic|CCDS	protein_coding	CRHR1	protein_coding	OTTHUMT00000441241.3	20	106	4.76	0.00	1	0	G		0	0		43884403	1	no_errors	ENST00000398285	ensembl	human	known	74_37	missense	19	56	17.39	30.00	4	24	SNP	0.341	A	A	43884403	G	A	43884403	3	1	93	1	0	0	0	0	1	0	0	0	3871	1145	40	1	67	1	CRHR1	17	43884403	Missense_Mutation	SNP	G	TCGA-ZB-A962-01A-11D-A428-09	14207119	43884403	37310807	19	1148											
DDX5	1655	genome.wustl.edu	37	chr17	62496153	62496153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcatatttggaacattacttCcgtattgctgagtgctatca	10	15	8	8	1	1	1	1	1	0	0	2	2	2	2	1	1	4	4	1	1	5	7			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr17:62496153C>T	ENST00000225792.5	-	13	2134	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.G499E|POLG2_ENST00000539111.2_5'Flank|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.G578E|DDX5_ENST00000580026.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	578	Transactivation domain.				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)			AACATTACTTCCGTATTGCTG	0.418			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)		0		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													163	133	143					17																	62496153		2203	4300	6503	SO:0001583	missense	0			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.1733G>A	17.37:g.62496153C>T	ENSP00000225792:p.Gly578Glu		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	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.G578E	ENST00000225792.5	37	c.1733	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	10.52	1.374265	0.24857	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	T	0.22743	1.94	5.83	3.79	0.43588	.	0.981149	0.08397	N	0.951979	T	0.17916	0.0430	N	0.24115	0.695	0.47245	D	0.999364	B;P;P	0.37914	0.005;0.611;0.611	B;B;B	0.37888	0.005;0.26;0.26	T	0.04551	-1.0943	10	0.54805	T	0.06	-16.2201	11.846	0.52385	0.0:0.8112:0.1226:0.0662	.	499;578;578	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	E	578;508;567	ENSP00000403085:G508E	ENSP00000225792:G567E	G	-	2	0	DDX5	59926615	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.901000	0.39838	1.493000	0.48517	0.650000	0.86243	GGA	0	pfam_P68HR		0.418	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	protein_coding	OTTHUMT00000444030.1	51	250	0	0.00	0	0	C	NM_004396	0	0		62496153	-1	no_errors	ENST00000225792	ensembl	human	known	74_37	missense	30	207	33.33	29.83	15	88	SNP	0.723	T	T	62496153	C	T	62496153	3	4	93	1	0	0	0	0	1	0	0	0	4367	855	30	3	115	3	DDX5	17	62496153	Missense_Mutation	SNP	C	TCGA-ZB-A962-01A-11D-A428-09	18611750	62496153	18699057	20	1149											
SKA1	220134	genome.wustl.edu	37	chr18	47917597	47917597	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacatcagccaaaaaagTctatgaattctgtgaccaga	15	10	6	10	0	3	3	1	2	2	1	4	3	4	3	3	0	2	0	3	0	6	3			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr18:47917597T>A	ENST00000285116.3	+	6	764	c.553T>A	c.(553-555)Tct>Act	p.S185T	SKA1_ENST00000417656.2_Missense_Mutation_p.S139T|SKA1_ENST00000398452.2_Missense_Mutation_p.S185T|SKA1_ENST00000488454.1_Missense_Mutation_p.S34T	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	185					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GCCAAAAAAGTCTATGAATTC	0.313																																							0											0													53	55	55					18																	47917597		2202	4297	6499	SO:0001583	missense	0			BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 24"	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.553T>A	18.37:g.47917597T>A	ENSP00000285116:p.Ser185Thr		B2R9Y6|B4E0P4	Missense_Mutation	SNP	pfam_DUF1395	p.S185T	ENST00000285116.3	37	c.553	CCDS11946.1	18	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098803	0.56183	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.42131	0.98;0.98;0.98	6.02	3.52	0.40303	.	0.244527	0.44097	D	0.000483	T	0.31420	0.0796	L	0.43757	1.38	0.35479	D	0.798027	B;B	0.27166	0.037;0.17	B;B	0.26310	0.022;0.068	T	0.30090	-0.9990	10	0.16420	T	0.52	-7.8266	10.1122	0.42570	0.2648:0.0:0.0:0.7352	.	139;185	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	T	185;139;185	ENSP00000285116:S185T;ENSP00000397222:S139T;ENSP00000381470:S185T	ENSP00000285116:S185T	S	+	1	0	SKA1	46171595	0.965000	0.33210	0.952000	0.39060	0.917000	0.54804	0.389000	0.20751	1.083000	0.41159	0.533000	0.62120	TCT	0	pfam_DUF1395		0.313	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKA1	protein_coding	OTTHUMT00000255982.2	99	304	0	0.00	0	0	T	NM_145060	0	0		47917597	1	no_errors	ENST00000285116	ensembl	human	known	74_37	missense	76	134	9.41	18.79	8	31	SNP	0.931	A	A	47917597	T	A	47917597	3	1	93	1	0	0	0	0	1	0	0	0	14352	1667	58	5	571	5	SKA1	18	47917597	Missense_Mutation	SNP	T	TCGA-ZB-A962-01A-11D-A428-09		47917597	30159651	21	1150											
NLRP8	126205	genome.wustl.edu	37	chr19	56465979	56465979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaggtgtacacaggcaCgaggagtacttaccatgtct	12	9	10	10	1	1	0	0	0	1	0	1	2	1	1	2	3	4	3	2	3	5	4	rs112109260	byFrequency	TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr19:56465979C>T	ENST00000291971.3	+	3	626	c.555C>T	c.(553-555)caC>caT	p.H185H	NLRP8_ENST00000590542.1_Silent_p.H185H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	185					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.H185H(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)		TACACAGGCACGAGGAGTACT	0.502																																							0											1	Substitution - coding silent(1)	large_intestine(1)											103	96	99					19																	56465979		2203	4300	6503	SO:0001819	synonymous_variant	0			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.555C>T	19.37:g.56465979C>T			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.H185	ENST00000291971.3	37	c.555	CCDS12937.1	19																																																																																			0	superfamily_P-loop_NTPase		0.502	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	protein_coding	OTTHUMT00000457462.1	86	288	0	0.00	0	0	C	NM_176811	0	0		56465979	1	no_errors	ENST00000291971	ensembl	human	known	74_37	silent	32	109	49.21	50.23	31	110	SNP	0	T	T	56465979	C	T	56465979	2	4	93	1	0	0	0	0	0	0	0	1	10483	535	19	1		1	NLRP8	19	56465979	Silent	SNP	C	TCGA-ZB-A962-01A-11D-A428-09		56465979	2663004	22	1151											
ZIM3	114026	genome.wustl.edu	37	chr19	57646870	57646870	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcacattcattacactgatAggatttcttggcattatgaa	12	15	6	8	0	3	2	2	2	1	0	3	3	3	3	0	2	1	1	0	2	4	6			TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr19:57646870A>G	ENST00000269834.1	-	5	1220	c.835T>C	c.(835-837)Tat>Cat	p.Y279H	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	279					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(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)		TTACACTGATAGGATTTCTTG	0.373																																							0											0													114	112	113					19																	57646870		2203	4300	6503	SO:0001583	missense	0			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.835T>C	19.37:g.57646870A>G	ENSP00000269834:p.Tyr279His		Q14CA6	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.Y279H	ENST00000269834.1	37	c.835	CCDS33125.1	19	.	.	.	.	.	.	.	.	.	.	A	8.471	0.857525	0.17106	.	.	ENSG00000141946	ENST00000269834	T	0.03889	3.77	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12092	0.0294	L	0.37850	1.14	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.11665	-1.0578	9	0.72032	D	0.01	.	9.6356	0.39806	1.0:0.0:0.0:0.0	.	279	Q96PE6	ZIM3_HUMAN	H	279	ENSP00000269834:Y279H	ENSP00000269834:Y279H	Y	-	1	0	ZIM3	62338682	0.001000	0.12720	0.021000	0.16686	0.057000	0.15508	1.235000	0.32671	1.142000	0.42291	0.260000	0.18958	TAT	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM3	protein_coding	OTTHUMT00000465078.1	43	374	0	0.00	0	0	A		0	0		57646870	-1	no_errors	ENST00000269834	ensembl	human	known	74_37	missense	22	281	18.52	10.51	5	33	SNP	0.187	G	G	57646870	A	G	57646870	3	3	93	1	0	0	0	0	1	0	0	0	17682	420	15	4	587	4	ZIM3	19	57646870	Missense_Mutation	SNP	A	TCGA-ZB-A962-01A-11D-A428-09	1180891	57646870	1482113	23	1152											
SLC9A8	23315	genome.wustl.edu	37	chr20	48472034	48472034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccactattgccattttcaAtgcacttcatgtggaccccg	8	12	8	13	1	2	0	2	0	0	0	2	1	2	1	4	2	2	1	4	2	2	5	rs200096437	byFrequency	TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr20:48472034A>G	ENST00000361573.2	+	8	671	c.629A>G	c.(628-630)aAt>aGt	p.N210S	SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000417961.1_Missense_Mutation_p.N226S			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	210					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)			GCCATTTTCAATGCACTTCAT	0.478													A|||	2	0.000399361	0	0	5008	,	,		20997	0		0	False		,,,				2504	0.002						0.9996,0.0003994											0													205	181	189					20																	48472034		2203	4300	6503	SO:0001583	missense	0			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.629A>G	20.37:g.48472034A>G	ENSP00000354966:p.Asn210Ser		B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.N226S	ENST00000361573.2	37	c.677	CCDS13421.1	20	.	.	.	.	.	.	.	.	.	.	A	21.9	4.209842	0.79240	.	.	ENSG00000197818	ENST00000417961;ENST00000361573	T;T	0.14640	2.49;2.49	5.24	5.24	0.73138	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.10465	0.0256	N	0.17901	0.54	0.80722	D	1	B	0.25105	0.118	B	0.23716	0.048	T	0.18461	-1.0336	10	0.28530	T	0.3	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	210	Q9Y2E8	SL9A8_HUMAN	S	226;210	ENSP00000416418:N226S;ENSP00000354966:N210S	ENSP00000354966:N210S	N	+	2	0	SLC9A8	47905441	1.000000	0.71417	0.944000	0.38274	0.951000	0.60555	9.176000	0.94839	2.101000	0.63845	0.528000	0.53228	AAT	0	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.478	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	protein_coding	OTTHUMT00000106483.3	52	228	0	0.00	0	0	A	XM_030524	rs200096437	A->G		48472034	1	no_errors	ENST00000417961	ensembl	human	known	74_37	missense	46	137	13.21	10.46	7	16	SNP	1	G	G	48472034	A	G	48472034	3	3	93	1	0	0	0	0	1	0	0	0	14720	101	4	3	659	3	SLC9A8	20	48472034	Missense_Mutation	SNP	A	TCGA-ZB-A962-01A-11D-A428-09		48472034	14553486	24	1153											
SAPS2	9701	genome.wustl.edu	37	chr22	50879410	50879410	+	Frame_Shift_Del	DEL	C	C	-																															caggggtcccggccgggaggCccccccgctgcccacagtgg																										TCGA-ZB-A962-01A-11D-A428-09	TCGA-ZB-A962-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b15a543b-b034-46ab-a7a0-5d7412289d1d	9c759b09-fb84-4da3-8080-37917380aa67	g.chr22:50879410delC	ENST00000216061.5	+	23	2925	c.2555delC	c.(2554-2556)gccfs	p.A852fs	PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.A818fs|PPP6R2_ENST00000359139.3_Frame_Shift_Del_p.A819fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.A819fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	852						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						GGCCGGGAGGCCCCCCCGCTG	0.721																																							0											0													16	19	18					22																	50879410		2198	4294	6492	SO:0001589	frameshift_variant	0			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.2555delC	22.37:g.50879410delC	ENSP00000216061:p.Ala852fs		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Del	DEL	pfam_SAPS,superfamily_ARM-type_fold	p.P854fs	ENST00000216061.5	37	c.2555		22																																																																																			0	NULL		0.721	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	protein_coding	OTTHUMT00000316809.1	43	11	0	0.00	0	0	C	NM_014678	0	0		50879410	1	no_errors	ENST00000216061	ensembl	human	known	74_37	frame_shift_del	22	6	8.33	0.00	2	0	DEL	0	0	-	50879410	C	-	50879410	7	5	93	1	0	1	0	1	0	0	0	0	13837	739	26	0	2527	0	SAPS2	22	50879410	Frame_Shift_Del	DEL	C	TCGA-ZB-A962-01A-11D-A428-09		50879410	425156	25	1154											
LRRC42	115353	genome.wustl.edu	37	chr1	54432012	54432012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcggaagctgtgaagcCacgggagacctcggagccta	10	5	15	11	3	0	2	0	1	0	1	1	6	0	4	3	3	4	1	3	3	3	1			TCGA-ZB-A963-01A-11D-A428-09	TCGA-ZB-A963-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8597e4e5-c134-4dce-9b91-62ef0c573ebf	06601478-0cf9-430a-b343-8051ae4396d1	g.chr1:54432012C>A	ENST00000371370.3	+	8	1492	c.971C>A	c.(970-972)cCa>cAa	p.P324Q	LRRC42_ENST00000319223.4_Missense_Mutation_p.P324Q|LRRC42_ENST00000477905.1_3'UTR	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	324										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GCTGTGAAGCCACGGGAGACC	0.433																																							0											0													90	95	93					1																	54432012		2203	4300	6503	SO:0001583	missense	0			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.971C>A	1.37:g.54432012C>A	ENSP00000360421:p.Pro324Gln		D3DQ46|Q8N2Q8	Missense_Mutation	SNP	NULL	p.P324Q	ENST00000371370.3	37	c.971	CCDS585.1	1	.	.	.	.	.	.	.	.	.	.	C	7.698	0.692575	0.15039	.	.	ENSG00000116212	ENST00000371370;ENST00000319223	.	.	.	5.7	0.437	0.16555	.	0.489250	0.24150	N	0.041095	T	0.20536	0.0494	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13019	-1.0525	9	0.25106	T	0.35	0.0851	5.1227	0.14869	0.2576:0.5365:0.0:0.2058	.	324	Q9Y546	LRC42_HUMAN	Q	324	.	ENSP00000318185:P324Q	P	+	2	0	LRRC42	54204600	0.389000	0.25205	0.012000	0.15200	0.417000	0.31264	0.792000	0.26929	-0.158000	0.11040	-0.136000	0.14681	CCA	0	NULL		0.433	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	protein_coding	OTTHUMT00000023250.1	81	127	0	0.00	0	0	C	NM_052940	0	0		54432012	1	no_errors	ENST00000319223	ensembl	human	known	74_37	missense	42	85	12.24	10.53	6	10	SNP	0.016	A	A	54432012	C	A	54432012	3	1	94	1	0	0	0	0	1	0	0	0	9000	594	21	5	993	5	LRRC42	1	54432012	Missense_Mutation	SNP	C	TCGA-ZB-A963-01A-11D-A428-09		54432012	194818609	1	1155											
PLK4	10733	genome.wustl.edu	37	chr4	128811126	128811126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaatgcctggactgataCaaaagtcaaaaagaactctg	20	7	7	7	0	2	2	1	1	1	1	2	3	2	3	1	1	3	0	1	1	9	1	rs373445088		TCGA-ZB-A963-01A-11D-A428-09	TCGA-ZB-A963-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8597e4e5-c134-4dce-9b91-62ef0c573ebf	06601478-0cf9-430a-b343-8051ae4396d1	g.chr4:128811126C>T	ENST00000270861.5	+	7	1839	c.1565C>T	c.(1564-1566)aCa>aTa	p.T522I	PLK4_ENST00000507249.1_Missense_Mutation_p.T488I|PLK4_ENST00000513090.1_Missense_Mutation_p.T490I|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000514379.1_Missense_Mutation_p.T481I|PLK4_ENST00000515069.1_Intron	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	522					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						TGGACTGATACAAAAGTCAAA	0.388																																					Colon(135;508 1718 19061 31832 42879)		0											0													78	75	76					4																	128811126		2203	4300	6503	SO:0001583	missense	0			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.1565C>T	4.37:g.128811126C>T	ENSP00000270861:p.Thr522Ile		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	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.T522I	ENST00000270861.5	37	c.1565	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	C	0.233	-1.019594	0.02078	.	.	ENSG00000142731	ENST00000270861;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.22	-8.45	0.00946	.	1.115780	0.06583	N	0.750670	T	0.12475	0.0303	N	0.19112	0.55	0.09310	N	1	B;B	0.22003	0.063;0.0	B;B	0.17979	0.02;0.001	T	0.12734	-1.0536	10	0.07813	T	0.8	2.2691	4.3688	0.11237	0.1518:0.0779:0.3777:0.3926	.	490;522	O00444-2;O00444	.;PLK4_HUMAN	I	522;490;488;481	ENSP00000270861:T522I;ENSP00000427554:T490I;ENSP00000423412:T488I;ENSP00000423582:T481I	ENSP00000270861:T522I	T	+	2	0	PLK4	129030576	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-2.646000	0.00860	-3.799000	0.00105	-1.434000	0.01081	ACA	0	NULL		0.388	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	protein_coding	OTTHUMT00000257095.3	61	231	0	0.00	0	0	C		0	0		128811126	1	no_errors	ENST00000270861	ensembl	human	known	74_37	missense	46	163	9.8	11.41	5	21	SNP	0	T	T	128811126	C	T	128811126	3	4	94	1	0	0	0	0	1	0	0	0	12098	478	17	3	1591	3	PLK4	4	128811126	Missense_Mutation	SNP	C	TCGA-ZB-A963-01A-11D-A428-09		128811126	62343150	2	1156											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A963-01A-11D-A428-09	TCGA-ZB-A963-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8597e4e5-c134-4dce-9b91-62ef0c573ebf	06601478-0cf9-430a-b343-8051ae4396d1	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	468	133	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	287	98	9.46	4.85	30	5	SNP	1	A	A	74146970	T	A	74146970	3	1	94	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A963-01A-11D-A428-09		74146970	84991693	3	1157											
KDM2A	22992	genome.wustl.edu	37	chr11	67018081	67018081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggagaggaggaggaagaGgaggaggaggaggaggaaga	15	0	26	0	0	0	3	0	0	0	3	0	13	0	12	0	11	0	0	0	11	2	0			TCGA-ZB-A963-01A-11D-A428-09	TCGA-ZB-A963-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8597e4e5-c134-4dce-9b91-62ef0c573ebf	06601478-0cf9-430a-b343-8051ae4396d1	g.chr11:67018081G>A	ENST00000529006.2	+	17	3026	c.2580G>A	c.(2578-2580)gaG>gaA	p.E860E	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.E318E|KDM2A_ENST00000530342.1_Silent_p.E421E|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	860					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						aggaggaagaggaggaggagg	0.657																																							0											0													23	27	26					11																	67018081		2111	4226	6337	SO:0001819	synonymous_variant	0			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.2580G>A	11.37:g.67018081G>A			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.E860	ENST00000529006.2	37	c.2580	CCDS44657.1	11																																																																																			0	NULL		0.657	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	protein_coding	OTTHUMT00000393140.2	16	8	0	0.00	0	0	G	NM_012308	0	0		67018081	1	no_errors	ENST00000529006	ensembl	human	known	74_37	silent	11	5	26.67	0.00	4	0	SNP	0.994	A	A	67018081	G	A	67018081	2	1	94	1	0	0	0	0	0	0	0	1	8124	991	35	3		3	KDM2A	11	67018081	Silent	SNP	G	TCGA-ZB-A963-01A-11D-A428-09		67018081	67988435	4	1158											
USP2	9099	genome.wustl.edu	37	chr11	119230314	119230314	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtagagcctctggaggcaGtaatctctcaactcccgagt	10	10	10	11	1	3	1	1	0	2	1	5	3	4	2	2	2	2	3	2	2	3	2			TCGA-ZB-A963-01A-11D-A428-09	TCGA-ZB-A963-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8597e4e5-c134-4dce-9b91-62ef0c573ebf	06601478-0cf9-430a-b343-8051ae4396d1	g.chr11:119230314G>T	ENST00000260187.2	-	4	1176	c.882C>A	c.(880-882)taC>taA	p.Y294*	USP2_ENST00000525735.1_Nonsense_Mutation_p.Y85*|USP2_ENST00000455332.2_Nonsense_Mutation_p.Y51*	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	294	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCTGGAGGCAGTAATCTCTCA	0.572																																							0											0													97	84	88					11																	119230314		2199	4295	6494	SO:0001587	stop_gained	0			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.882C>A	11.37:g.119230314G>T	ENSP00000260187:p.Tyr294*		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.Y294*	ENST00000260187.2	37	c.882	CCDS8422.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.468652	0.96274	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	.	.	.	5.28	-3.32	0.04973	.	0.123193	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5471	11.7854	0.52039	0.5107:0.0:0.4893:0.0	.	.	.	.	X	51;294;41;85	.	ENSP00000260187:Y294X	Y	-	3	2	USP2	118735524	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	0.843000	0.27640	-0.498000	0.06632	-0.302000	0.09304	TAC	0	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.572	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP2	protein_coding	OTTHUMT00000388361.2	26	152	0	0.00	0	0	G	NM_171997	0	0		119230314	-1	no_errors	ENST00000260187	ensembl	human	known	74_37	nonsense	28	117	12.5	10.69	4	14	SNP	0.999	T	T	119230314	G	T	119230314	4	4	94	1	0	0	0	0	0	1	0	0	17048	1024	36	5	975	5	USP2	11	119230314	Nonsense_Mutation	SNP	G	TCGA-ZB-A963-01A-11D-A428-09	52212233	119230314	15776202	5	1159											
CD163L1	283316	genome.wustl.edu	37	chr12	7510020	7510020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttgtggcttcagaggCaggaagaactcccaacagcg	11	9	11	10	1	2	2	2	0	0	2	3	3	3	3	1	3	3	2	1	3	3	3			TCGA-ZB-A963-01A-11D-A428-09	TCGA-ZB-A963-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8597e4e5-c134-4dce-9b91-62ef0c573ebf	06601478-0cf9-430a-b343-8051ae4396d1	g.chr12:7510020C>T	ENST00000313599.3	-	19	4399	c.4342G>A	c.(4342-4344)Gcc>Acc	p.A1448T	CD163L1_ENST00000416109.2_Missense_Mutation_p.A1458T|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1416T			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1448						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						GCTTCAGAGGCAGGAAGAACT	0.428																																							0											0													99	93	95					12																	7510020		2203	4300	6503	SO:0001583	missense	0			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.4342G>A	12.37:g.7510020C>T	ENSP00000315945:p.Ala1448Thr		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.A1448T	ENST00000313599.3	37	c.4342	CCDS8577.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.900|9.900	1.206600|1.206600	0.22205|0.22205	.|.	.|.	ENSG00000177675|ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630|ENST00000539726	T;T;T|.	0.02280|.	4.89;4.89;4.36|.	1.07|1.07	0.0724|0.0724	0.14386|0.14386	.|.	.|.	.|.	.|.	.|.	T|T	0.15046|0.15046	0.0363|0.0363	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	P;D|.	0.53885|.	0.895;0.963|.	B;B|.	0.41036|.	0.264;0.346|.	T|T	0.26916|0.26916	-1.0089|-1.0089	9|5	0.27785|.	T|.	0.31|.	.|.	4.1752|4.1752	0.10348|0.10348	0.3998:0.6002:0.0:0.0|0.3998:0.6002:0.0:0.0	.|.	1458;1448|.	E7EVK4;Q9NR16|.	.;C163B_HUMAN|.	T|Y	1448;1458;1416|103	ENSP00000315945:A1448T;ENSP00000393474:A1458T;ENSP00000379871:A1416T|.	ENSP00000315945:A1448T|.	A|C	-|-	1|2	0|0	CD163L1|CD163L1	7401287|7401287	0.331000|0.331000	0.24713|0.24713	0.335000|0.335000	0.25508|0.25508	0.265000|0.265000	0.26407|0.26407	-0.250000|-0.250000	0.08830|0.08830	0.008000|0.008000	0.14787|0.14787	-0.335000|-0.335000	0.08231|0.08231	GCC|TGC	0	NULL		0.428	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	protein_coding	OTTHUMT00000399329.1	80	223	0	0.00	0	0	C	NM_174941	0	0		7510020	-1	no_errors	ENST00000313599	ensembl	human	known	74_37	missense	44	160	10.2	8.52	5	15	SNP	0.459	T	T	7510020	C	T	7510020	3	4	94	1	0	0	0	0	1	0	0	0	2968	710	25	3	23	3	CD163L1	12	7510020	Missense_Mutation	SNP	C	TCGA-ZB-A963-01A-11D-A428-09		7510020	126341875	6	1160											
SPEN	23013	genome.wustl.edu	37	chr1	16257221	16257221	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattccatcctggtacatgAaaaagaagaaaattaggact	17	10	7	7	0	0	3	0	1	0	2	2	4	2	4	2	2	1	1	2	2	8	4			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr1:16257221A>C	ENST00000375759.3	+	11	4690	c.4486A>C	c.(4486-4488)Aaa>Caa	p.K1496Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1496					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)		CTGGTACATGAAAAAGAAGAA	0.388																																							0											0													60	65	63					1																	16257221		2203	4300	6503	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4486A>C	1.37:g.16257221A>C	ENSP00000364912:p.Lys1496Gln		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.K1496Q	ENST00000375759.3	37	c.4486	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480712	0.44044	.	.	ENSG00000065526	ENST00000375759	T	0.17854	2.25	5.13	5.13	0.70059	.	.	.	.	.	T	0.30262	0.0759	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01945	-1.1242	9	0.30854	T	0.27	-20.8799	15.107	0.72329	1.0:0.0:0.0:0.0	.	1496	Q96T58	MINT_HUMAN	Q	1496	ENSP00000364912:K1496Q	ENSP00000364912:K1496Q	K	+	1	0	SPEN	16129808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.703000	0.91344	2.148000	0.66965	0.460000	0.39030	AAA	0	NULL		0.388	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	49	328	0	0.30	0	1	A	NM_015001	0	0		16257221	1	no_errors	ENST00000375759	ensembl	human	known	74_37	missense	43	238	12.24	5.18	6	13	SNP	1	C	C	16257221	A	C	16257221	3	2	95	1	0	0	0	0	1	0	0	0	15037	247	9	5	4528	5	SPEN	1	16257221	Missense_Mutation	SNP	A	TCGA-ZB-A964-01A-11D-A428-09		16257221	232993400	1	1161											
BLZF1	8548	genome.wustl.edu	37	chr1	169349772	169349772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttacagcgtcaaaaccGtgatgcacacggggctatac	12	8	10	11	3	1	1	1	1	0	0	1	1	1	1	1	2	6	3	1	2	5	4			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr1:169349772G>A	ENST00000367808.3	+	5	1145	c.722G>A	c.(721-723)cGt>cAt	p.R241H	BLZF1_ENST00000329281.2_Missense_Mutation_p.R241H			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	241					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CGTCAAAACCGTGATGCACAC	0.388																																							0											0													133	111	119					1																	169349772		2203	4300	6503	SO:0001583	missense	0			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.722G>A	1.37:g.169349772G>A	ENSP00000356782:p.Arg241His		O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	pfam_Hsk3_like	p.R241H	ENST00000367808.3	37	c.722	CCDS1278.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420747	0.83559	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000426663	T;T;T	0.15834	2.39;2.39;2.39	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	M	0.63843	1.955	0.46981	D	0.999278	D;D	0.89917	1.0;1.0	D;D	0.63192	0.912;0.912	T	0.02150	-1.1205	9	0.59425	D	0.04	-15.2218	19.4369	0.94799	0.0:0.0:1.0:0.0	.	241;241	A8K6R0;Q9H2G9	.;GO45_HUMAN	H	241	ENSP00000356782:R241H;ENSP00000327541:R241H;ENSP00000404408:R241H	ENSP00000327541:R241H	R	+	2	0	BLZF1	167616396	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.366000	0.79548	2.583000	0.87209	0.637000	0.83480	CGT	0	NULL		0.388	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLZF1	protein_coding	OTTHUMT00000086109.1	48	229	0	0.00	0	0	G	NM_003666	0	0		169349772	1	no_errors	ENST00000329281	ensembl	human	known	74_37	missense	30	104	55.88	41.90	38	75	SNP	1	A	A	169349772	G	A	169349772	3	1	95	1	0	0	0	0	1	0	0	0	1453	1145	40	1	736	1	BLZF1	1	169349772	Missense_Mutation	SNP	G	TCGA-ZB-A964-01A-11D-A428-09	153092551	169349772	79900849	2	1162											
DNAJC27	51277	genome.wustl.edu	37	chr2	25194751	25194751	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacctgccgggctccttcCgcttcggcatgttggcctcc	3	10	12	16	3	0	1	0	0	0	1	4	2	3	1	6	3	1	4	6	3	0	3			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr2:25194751C>A	ENST00000264711.2	-	1	212	c.23G>T	c.(22-24)cGg>cTg	p.R8L	DNAJC27-AS1_ENST00000428614.1_RNA|DNAJC27-AS1_ENST00000421904.1_RNA|SNORD14_ENST00000365609.1_RNA|DNAJC27-AS1_ENST00000422449.1_RNA|DNAJC27-AS1_ENST00000434897.1_RNA|DNAJC27-AS1_ENST00000421842.1_RNA|DNAJC27_ENST00000468467.1_5'Flank|DNAJC27-AS1_ENST00000445389.1_RNA|DNAJC27_ENST00000534855.1_5'Flank|DNAJC27-AS1_ENST00000451291.1_RNA	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	8	Required for interaction with MAPK1. {ECO:0000250|UniProtKB:Q8CFP6}.				small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGGCTCCTTCCGCTTCGGCAT	0.677																																							0											0													43	37	39					2																	25194751		2203	4300	6503	SO:0001583	missense	0				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"Heat shock proteins / DNAJ (HSP40)"	30290	protein-coding gene	gene with protein product		613527	"rab and DnaJ domain containing"	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.23G>T	2.37:g.25194751C>A	ENSP00000264711:p.Arg8Leu		Q5JV88|Q86Y24	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_domain,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_DnaJ_domain,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_Small_GTPase,prints_DnaJ_domain,tigrfam_Small_GTP-bd_dom	p.R8L	ENST00000264711.2	37	c.23	CCDS1716.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.494738	0.96339	.	.	ENSG00000115137	ENST00000264711	T	0.71103	-0.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	L	0.48642	1.525	0.80722	D	1	P;P	0.47191	0.891;0.555	B;B	0.43754	0.43;0.115	T	0.72855	-0.4166	10	0.72032	D	0.01	-13.9084	17.2761	0.87115	0.0:1.0:0.0:0.0	.	8;8	Q9NZQ0-3;Q9NZQ0	.;DJC27_HUMAN	L	8	ENSP00000264711:R8L	ENSP00000264711:R8L	R	-	2	0	DNAJC27	25048255	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.477000	0.66799	2.861000	0.98227	0.655000	0.94253	CGG	0	NULL		0.677	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	protein_coding	OTTHUMT00000246855.3	74	88	0	0.00	0	0	C	NM_016544	0	0		25194751	-1	no_errors	ENST00000264711	ensembl	human	known	74_37	missense	43	44	50.57	40.54	44	30	SNP	1	A	A	25194751	C	A	25194751	3	1	95	1	0	0	0	0	1	0	0	0	4645	652	23	5	826	5	DNAJC27	2	25194751	Missense_Mutation	SNP	C	TCGA-ZB-A964-01A-11D-A428-09		25194751	218004622	3	1163											
GPD2	2820	genome.wustl.edu	37	chr2	157436212	157436212	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttacttagagtatcaatgTccaaatggatgaaaatacac	16	13	6	6	0	1	2	1	1	0	1	2	3	2	3	1	1	2	1	1	1	8	5			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr2:157436212T>G	ENST00000310454.6	+	16	2342	c.1970T>G	c.(1969-1971)gTc>gGc	p.V657G	GPD2_ENST00000409674.1_Missense_Mutation_p.V657G|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000496190.1_3'UTR|GPD2_ENST00000409125.4_Missense_Mutation_p.V430G|GPD2_ENST00000438166.2_Missense_Mutation_p.V657G	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	657	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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						AGTATCAATGTCCAAATGGAT	0.343																																							0											0													47	50	49					2																	157436212		2203	4299	6502	SO:0001583	missense	0				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.1970T>G	2.37:g.157436212T>G	ENSP00000308610:p.Val657Gly		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.V657G	ENST00000310454.6	37	c.1970	CCDS2202.1	2	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716275	0.30413	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.96	5.96	0.96718	EF-hand-like domain (1);	0.211636	0.49916	D	0.000130	T	0.58495	0.2126	N	0.20986	0.625	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.52990	-0.8501	10	0.25106	T	0.35	.	16.4221	0.83766	0.0:0.0:0.0:1.0	.	657	P43304	GPDM_HUMAN	G	657;430;657;657	ENSP00000308610:V657G;ENSP00000386484:V430G;ENSP00000409708:V657G;ENSP00000386425:V657G	ENSP00000308610:V657G	V	+	2	0	GPD2	157144458	0.979000	0.34478	0.771000	0.31576	0.920000	0.55202	6.139000	0.71728	2.283000	0.76528	0.477000	0.44152	GTC	0	pfscan_EF_hand_dom		0.343	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	protein_coding	OTTHUMT00000254910.3	70	122	0	0.00	0	0	T		0	0		157436212	1	no_errors	ENST00000310454	ensembl	human	known	74_37	missense	59	93	9.23	7.00	6	7	SNP	0.835	G	G	157436212	T	G	157436212	3	3	95	1	0	0	0	0	1	0	0	0	6606	1667	58	5	2028	5	GPD2	2	157436212	Missense_Mutation	SNP	T	TCGA-ZB-A964-01A-11D-A428-09	132241461	157436212	85763161	4	1164											
VARS	7407	genome.wustl.edu	37	chr6	31760543	31760543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttcctcacctggctgatGagagagaggcctggctcctg	6	9	12	14	0	1	3	1	2	0	2	3	5	3	3	5	3	0	2	5	3	0	1			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr6:31760543G>A	ENST00000375663.3	-	4	1092	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	218	GST C-terminal.				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)	CCTGGCTGATGAGAGAGAGGC	0.532																																							0											0													64	66	65					6																	31760543		2203	4300	6503	SO:0001583	missense	0			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.652C>T	6.37:g.31760543G>A	ENSP00000364815:p.His218Tyr		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.H218Y	ENST00000375663.3	37	c.652	CCDS34412.1	6	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719215	0.48728	.	.	ENSG00000204394	ENST00000375663	T	0.04083	3.71	5.35	5.35	0.76521	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.374175	0.25109	N	0.033067	T	0.01489	0.0048	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50398	-0.8833	10	0.62326	D	0.03	-23.2668	14.5741	0.68232	0.0:0.0:1.0:0.0	.	218	P26640	SYVC_HUMAN	Y	218	ENSP00000364815:H218Y	ENSP00000364815:H218Y	H	-	1	0	VARS	31868522	0.925000	0.31364	0.985000	0.45067	0.749000	0.42624	3.219000	0.51200	2.498000	0.84270	0.467000	0.42956	CAT	0	superfamily_Glutathione-S-Trfase_C-like		0.532	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	protein_coding	OTTHUMT00000076619.2	56	256	0	0.00	0	0	G	NM_006295	0	0		31760543	-1	no_errors	ENST00000375663	ensembl	human	known	74_37	missense	54	141	40.66	36.61	37	82	SNP	0.951	A	A	31760543	G	A	31760543	3	1	95	1	0	0	0	0	1	0	0	0	17120	1290	45	3	3250	3	VARS	6	31760543	Missense_Mutation	SNP	G	TCGA-ZB-A964-01A-11D-A428-09		31760543	139354524	5	1165											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	351	148	0	0.67	0	1	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	195	64	48.16	53.62	183	74	SNP	1	A	A	74146970	T	A	74146970	3	1	95	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A964-01A-11D-A428-09		74146970	84991693	6	1166											
EXTL3	2137	genome.wustl.edu	37	chr8	28574610	28574611	+	Frame_Shift_Ins	INS	-	-	C																															cggaaatatctcttcaccttINSccagggcgagaagattgagt																										TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr8:28574610_28574611insC	ENST00000220562.4	+	3	1936_1937	c.1034_1035insC	c.(1033-1038)ttccagfs	p.Q346fs	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	346					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)		CTCTTCACCTTCCAGGGCGAGA	0.564																																							0											0																																										SO:0001589	frameshift_variant	0			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.1036dupC	8.37:g.28574612_28574612dupC	ENSP00000220562:p.Gln346fs		D3DST8|O00225|Q53XT3	Frame_Shift_Ins	INS	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.Q346fs	ENST00000220562.4	37	c.1034_1035	CCDS6070.1	8																																																																																			0	pfam_Exostosin		0.564	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	protein_coding	OTTHUMT00000219987.3	15	199	0	0.00	0	0	0	NM_001440	0	0		28574611	1	no_errors	ENST00000220562	ensembl	human	known	74_37	frame_shift_ins	17	118	22.73	28.48	5	47	INS	1.000:1.000	C	C	28574611	-	C	28574610	7	5	95	1	0	1	1	0	0	0	0	0	5327	1783	62	0	1036	0	EXTL3	8	28574610	Frame_Shift_Ins	INS	-	TCGA-ZB-A964-01A-11D-A428-09		28574610	117789412	7	1167											
HRAS	3265	genome.wustl.edu	37	chr11	533552	533552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgtgcagccaggtcacaCttgttccccaccagcaccat	8	8	9	16	1	1	0	1	0	0	0	2	0	2	0	5	1	4	3	5	1	0	2			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr11:533552C>G	ENST00000451590.1	-	4	538	c.351G>C	c.(349-351)aaG>aaC	p.K117N	HRAS_ENST00000397594.1_Missense_Mutation_p.K117N|HRAS_ENST00000397596.2_Missense_Mutation_p.K117N|HRAS_ENST00000417302.1_Missense_Mutation_p.K117N|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000311189.7_Missense_Mutation_p.K117N	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	117			K -> R (in CSTLO). {ECO:0000269|PubMed:16443854}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.K117N(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;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)		CCAGGTCACACTTGTTCCCCA	0.632		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	3	Substitution - Missense(3)	urinary_tract(2)|thyroid(1)											199	177	184					11																	533552		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.351G>C	11.37:g.533552C>G	ENSP00000407586:p.Lys117Asn		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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.K117N	ENST00000451590.1	37	c.351	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431432	0.62844	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	4.08	2.12	0.27331	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	H	0.99951	5.03	0.80722	D	1	D;D	0.57257	0.979;0.966	P;P	0.57204	0.815;0.759	D	0.92778	0.6238	10	0.87932	D	0	.	6.1696	0.20410	0.0:0.5874:0.0:0.4125	.	117;117	P01112-2;P01112	.;RASH_HUMAN	N	117	ENSP00000380722:K117N;ENSP00000380723:K117N;ENSP00000407586:K117N;ENSP00000388246:K117N;ENSP00000309845:K117N	ENSP00000309845:K117N	K	-	3	2	HRAS	523552	0.940000	0.31905	1.000000	0.80357	0.996000	0.88848	0.073000	0.14640	0.831000	0.34780	0.561000	0.74099	AAG	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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		0.632	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	44	205	0	0.00	0	0	C	NM_176795	0	0		533552	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	15	67	55.88	40.87	19	47	SNP	0.999	G	G	533552	C	G	533552	3	3	95	1	0	0	0	0	1	0	0	0	7348	564	20	5	293	5	HRAS	11	533552	Missense_Mutation	SNP	C	TCGA-ZB-A964-01A-11D-A428-09		533552	134472964	8	1168											
NPAT	4863	genome.wustl.edu	37	chr11	108043017	108043017	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtggtagaggttgagcAgtcataggtgcagaatttcc	10	11	15	5	0	1	4	1	2	0	2	2	4	2	4	1	4	2	4	1	4	3	4			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr11:108043017A>T	ENST00000278612.8	-	13	2799	c.2694T>A	c.(2692-2694)acT>acA	p.T898T	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	898					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)		GAGGTTGAGCAGTCATAGGTG	0.438																																							0											0													236	221	226					11																	108043017		1991	4162	6153	SO:0001819	synonymous_variant	0			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.2694T>A	11.37:g.108043017A>T			A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.T898	ENST00000278612.8	37	c.2694	CCDS41710.1	11																																																																																			0	NULL		0.438	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	protein_coding	OTTHUMT00000389506.2	51	244	0	0.41	0	1	A	NM_002519	0	0		108043017	-1	no_errors	ENST00000278612	ensembl	human	known	74_37	silent	38	111	40.62	45.10	26	92	SNP	0.007	T	T	108043017	A	T	108043017	2	4	95	1	0	0	0	0	0	0	0	1	10566	175	7	5		5	NPAT	11	108043017	Silent	SNP	A	TCGA-ZB-A964-01A-11D-A428-09	107509465	108043017	26963499	9	1169											
PCSK7	9159	genome.wustl.edu	37	chr11	117089217	117089217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaacggggggactgcGgaatcgccttgttttctttt	6	12	14	9	3	1	0	0	0	1	0	2	3	1	3	2	5	2	1	2	5	2	5			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr11:117089217G>A	ENST00000320934.3	-	12	2129	c.1499C>T	c.(1498-1500)cCg>cTg	p.P500L	PCSK7_ENST00000540028.1_Missense_Mutation_p.P141L	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	500					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGGGACTGCGGAATCGCCTT	0.507			T	IGH@	MLCLS																																		0		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													131	124	126					11																	117089217		2201	4296	6497	SO:0001583	missense	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1499C>T	11.37:g.117089217G>A	ENSP00000325917:p.Pro500Leu		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	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.P500L	ENST00000320934.3	37	c.1499	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904364	0.52333	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.61980	0.06;0.06	5.01	5.01	0.66863	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	M	0.83774	2.66	0.80722	D	1	B	0.14805	0.011	B	0.11329	0.006	T	0.68887	-0.5290	10	0.72032	D	0.01	-25.6227	17.0563	0.86534	0.0:0.0:1.0:0.0	.	500	Q16549	PCSK7_HUMAN	L	500;141;500	ENSP00000325917:P500L;ENSP00000441944:P141L	ENSP00000325917:P500L	P	-	2	0	PCSK7	116594427	1.000000	0.71417	0.605000	0.28930	0.581000	0.36288	3.206000	0.51098	2.606000	0.88127	0.655000	0.94253	CCG	0	superfamily_Galactose-bd-like		0.507	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	protein_coding	OTTHUMT00000385529.2	53	321	0	0.00	0	0	G	NM_004716	0	0		117089217	-1	no_errors	ENST00000320934	ensembl	human	known	74_37	missense	14	96	73.08	48.94	38	92	SNP	0.99	A	A	117089217	G	A	117089217	3	1	95	1	0	0	0	0	1	0	0	0	11605	1116	39	2	882	2	PCSK7	11	117089217	Missense_Mutation	SNP	G	TCGA-ZB-A964-01A-11D-A428-09	9046200	117089217	17917299	10	1170											
PUS1	80324	genome.wustl.edu	37	chr12	132426425	132426425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatctaccccaccatcaTcggcaccgagcgggacgaac	11	4	9	17	4	2	0	1	0	1	0	3	3	2	1	4	2	3	2	4	2	2	1			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr12:132426425T>C	ENST00000376649.3	+	5	1633	c.1133T>C	c.(1132-1134)aTc>aCc	p.I378T	PUS1_ENST00000542167.2_Missense_Mutation_p.I325T|PUS1_ENST00000440818.2_Missense_Mutation_p.I350T|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.I350T	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	378					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCCACCATCATCGGCACCGAG	0.647																																					Esophageal Squamous(102;671 2009 17384 45666)		0											0													85	59	68					12																	132426425		2203	4300	6503	SO:0001583	missense	0			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.1133T>C	12.37:g.132426425T>C	ENSP00000365837:p.Ile378Thr		A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA	p.I378T	ENST00000376649.3	37	c.1133	CCDS9275.2	12	.	.	.	.	.	.	.	.	.	.	T	5.155	0.214124	0.09810	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.55930	0.51;0.5;0.52;0.51;0.49	5.17	4.01	0.46588	.	0.836491	0.11048	N	0.605305	T	0.48021	0.1477	L	0.49640	1.575	0.09310	N	0.999998	B;B	0.23058	0.079;0.026	B;B	0.23852	0.049;0.022	T	0.38824	-0.9643	10	0.42905	T	0.14	-37.034	11.0281	0.47757	0.0:0.0749:0.0:0.9251	.	325;378	F5H1S9;Q9Y606	.;TRUA_HUMAN	T	350;378;350;350;325	ENSP00000392451:I350T;ENSP00000365837:I378T;ENSP00000324726:I350T;ENSP00000400032:I350T;ENSP00000438948:I325T	ENSP00000324726:I350T	I	+	2	0	PUS1	130992378	0.999000	0.42202	0.214000	0.23707	0.109000	0.19521	4.096000	0.57734	1.947000	0.56498	0.402000	0.26972	ATC	0	NULL		0.647	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUS1	protein_coding	OTTHUMT00000250313.2	28	130	0	0.00	0	0	T	NM_025215	0	0		132426425	1	no_errors	ENST00000376649	ensembl	human	known	74_37	missense	16	58	30.43	36.26	7	33	SNP	0.093	C	C	132426425	T	C	132426425	3	2	95	1	0	0	0	0	1	0	0	0	12830	1435	50	3	1151	3	PUS1	12	132426425	Missense_Mutation	SNP	T	TCGA-ZB-A964-01A-11D-A428-09		132426425	1425470	11	1171											
C17orf85	55421	genome.wustl.edu	37	chr17	3749489	3749489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggggcctccgccttcaccGacacccgcaggccccgtacg	5	4	11	21	6	1	0	1	0	0	0	2	1	2	0	8	3	1	2	8	3	1	2			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr17:3749489G>A	ENST00000389005.4	-	1	56	c.29C>T	c.(28-30)tCg>tTg	p.S10L	C17orf85_ENST00000158149.3_5'UTR	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	10							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CGCCTTCACCGACACCCGCAG	0.776																																							0											0													2	4	3					17																	3749489		569	1396	1965	SO:0001583	missense	0				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.29C>T	17.37:g.3749489G>A	ENSP00000373657:p.Ser10Leu		B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	pfam_DUF2414	p.S10L	ENST00000389005.4	37	c.29	CCDS45578.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.210882	0.95069	.	.	ENSG00000074356	ENST00000389005	.	.	.	4.93	3.93	0.45458	.	0.147859	0.47455	D	0.000234	T	0.28333	0.0700	L	0.27053	0.805	0.80722	D	1	P	0.43352	0.804	B	0.24541	0.054	T	0.25882	-1.0119	9	0.87932	D	0	-5.7066	12.9258	0.58260	0.0:0.0:0.8361:0.1639	.	10	Q53F19	CQ085_HUMAN	L	10	.	ENSP00000373657:S10L	S	-	2	0	C17orf85	3696238	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.469000	0.66749	1.356000	0.45884	0.455000	0.32223	TCG	0	NULL		0.776	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf85	protein_coding	OTTHUMT00000438385.1	27	14	0	0.00	0	0	G	NM_018553	0	0		3749489	-1	no_errors	ENST00000389005	ensembl	human	known	74_37	missense	37	9	9.76	0.00	4	0	SNP	1	A	A	3749489	G	A	3749489	3	1	95	1	0	0	0	0	1	0	0	0	1888	1059	37	2	1885	2	C17orf85	17	3749489	Missense_Mutation	SNP	G	TCGA-ZB-A964-01A-11D-A428-09		3749489	77445721	12	1172											
LRRC7	57554	genome.wustl.edu	37	chr1	70488846	70488846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgggaaaggggccagcGtgggattactctccaacctg	8	7	13	13	1	1	0	0	0	1	0	2	2	1	2	5	4	3	0	5	4	3	1			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr1:70488846G>A	ENST00000035383.5	+	15	1499	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	LRRC7_ENST00000310961.5_Missense_Mutation_p.R495H|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	490						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						AGGGGCCAGCGTGGGATTACT	0.547																																							0											0													54	50	51					1																	70488846		2203	4300	6503	SO:0001583	missense	0				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.1469G>A	1.37:g.70488846G>A	ENSP00000035383:p.Arg490His		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.R490H	ENST00000035383.5	37	c.1469	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108824	0.56398	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.37752	1.18;1.25	5.86	5.86	0.93980	.	0.257341	0.35495	N	0.003162	T	0.10766	0.0263	N	0.08118	0	0.80722	D	1	P	0.49358	0.923	B	0.35859	0.212	T	0.04333	-1.0959	10	0.56958	D	0.05	.	15.6849	0.77402	0.0:0.0:1.0:0.0	.	490	Q96NW7	LRRC7_HUMAN	H	495;490;313	ENSP00000309245:R495H;ENSP00000035383:R490H	ENSP00000035383:R490H	R	+	2	0	LRRC7	70261434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.453000	0.60061	2.775000	0.95449	0.585000	0.79938	CGT	0	NULL		0.547	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	protein_coding	OTTHUMT00000131261.1	20	128	0	1.54	0	2	G	NM_020794	0	0		70488846	1	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	19	71	42.42	35.45	14	39	SNP	1	A	A	70488846	G	A	70488846	3	1	96	1	0	0	0	0	1	0	0	0	9020	1145	40	1	1527	1	LRRC7	1	70488846	Missense_Mutation	SNP	G	TCGA-ZB-A965-01A-11D-A428-09		70488846	178761775	1	1173											
ADAM30	11085	genome.wustl.edu	37	chr1	120437039	120437039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgttgcaaacaccccGggtattgcatttctcaggca	8	13	9	11	1	2	0	1	0	2	0	3	0	2	0	2	2	3	6	2	2	2	5			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr1:120437039G>A	ENST00000369400.1	-	1	2079	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	641	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		CAAACACCCCGGGTATTGCAT	0.493																																							0											0													59	59	59					1																	120437039		2203	4300	6503	SO:0001583	missense	0			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.1921C>T	1.37:g.120437039G>A	ENSP00000358407:p.Arg641Trp		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.R641W	ENST00000369400.1	37	c.1921	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180162	0.38511	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	D	0.87729	-2.29	5.23	3.28	0.37604	Epidermal growth factor-like, type 3 (1);	0.000000	0.38548	N	0.001655	D	0.92489	0.7615	H	0.94345	3.525	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86768	0.1971	10	0.87932	D	0	.	9.65	0.39892	0.0:0.1456:0.6775:0.1769	.	641	Q9UKF2	ADA30_HUMAN	W	641	ENSP00000358407:R641W	ENSP00000358407:R641W	R	-	1	2	ADAM30	120238562	0.121000	0.22262	0.020000	0.16555	0.171000	0.22731	1.089000	0.30890	0.692000	0.31613	0.655000	0.94253	CGG	0	pfscan_EG-like_dom		0.493	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	protein_coding	OTTHUMT00000033678.1	49	266	0	0.00	0	0	G	NM_021794	0	0		120437039	-1	no_errors	ENST00000369400	ensembl	human	known	74_37	missense	16	165	42.86	43.88	12	129	SNP	0.119	A	A	120437039	G	A	120437039	3	1	96	1	0	0	0	0	1	0	0	0	248	1115	39	2	455	2	ADAM30	1	120437039	Missense_Mutation	SNP	G	TCGA-ZB-A965-01A-11D-A428-09	49948193	120437039	128813582	2	1174											
BRPF1	7862	genome.wustl.edu	37	chr3	9786002	9786002	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccgaagacagctggaccGcccaagaggccgggccggcc	10	1	14	16	4	0	2	0	0	0	2	0	4	0	3	6	4	2	1	6	4	3	0			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr3:9786002G>T	ENST00000457855.1	+	8	2723	c.2712G>T	c.(2710-2712)ccG>ccT	p.P904P	BRPF1_ENST00000433861.2_Intron|BRPF1_ENST00000302054.3_Silent_p.P904P|BRPF1_ENST00000383829.2_Silent_p.P910P|BRPF1_ENST00000424362.1_Silent_p.P903P			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	904	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)					CAGCTGGACCGCCCAAGAGGC	0.642																																							0											0													36	44	41					3																	9786002		2203	4300	6503	SO:0001819	synonymous_variant	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2712G>T	3.37:g.9786002G>T			B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	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.P910	ENST00000457855.1	37	c.2730	CCDS2575.1	3																																																																																			0	NULL		0.642	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	protein_coding	OTTHUMT00000338485.1	142	107	0	0.00	0	0	G	NM_001003694	0	0		9786002	1	no_errors	ENST00000383829	ensembl	human	known	74_37	silent	52	65	44.09	46.28	41	56	SNP	1	T	T	9786002	G	T	9786002	2	4	96	1	0	0	0	0	0	0	0	1	1520	1074	38	5		5	BRPF1	3	9786002	Silent	SNP	G	TCGA-ZB-A965-01A-11D-A428-09		9786002	188236428	3	1175											
CTNNB1	1499	genome.wustl.edu	37	chr3	41280717	41280717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgagatgggtggccaccacCctggtgctgactatccagtt	8	10	12	11	0	0	2	0	2	0	1	1	3	1	2	4	3	1	2	4	3	1	2			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr3:41280717C>T	ENST00000349496.5	+	15	2510	c.2230C>T	c.(2230-2232)Cct>Tct	p.P744S	CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P737S|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P744S|CTNNB1_ENST00000396183.3_Missense_Mutation_p.P744S|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P744S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	744					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|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)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGCCACCACCCTGGTGCTGA	0.557		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)		0		Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	0													81	73	76					3																	41280717		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2230C>T	3.37:g.41280717C>T	ENSP00000344456:p.Pro744Ser		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.P744S	ENST00000349496.5	37	c.2230	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843038	0.32606	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.33485	1.01	0.80722	D	1	B;B	0.20164	0.042;0.0	B;B	0.16289	0.015;0.001	T	0.25606	-1.0127	10	0.21014	T	0.42	-28.1093	19.7949	0.96477	0.0:1.0:0.0:0.0	.	672;744	B4DSW9;P35222	.;CTNB1_HUMAN	S	744;744;744;737;744	ENSP00000385604:P744S;ENSP00000379486:P744S;ENSP00000344456:P744S;ENSP00000411226:P737S;ENSP00000379488:P744S	ENSP00000344456:P744S	P	+	1	0	CTNNB1	41255721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.920000	0.70017	2.679000	0.91253	0.557000	0.71058	CCT	0	NULL		0.557	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	protein_coding	OTTHUMT00000254182.2	50	116	0	0.00	0	0	C	NM_001098210	0	0		41280717	1	no_errors	ENST00000349496	ensembl	human	known	74_37	missense	8	58	61.9	46.79	13	51	SNP	1	T	T	41280717	C	T	41280717	3	4	96	1	0	0	0	0	1	0	0	0	4016	623	22	3	2284	3	CTNNB1	3	41280717	Missense_Mutation	SNP	C	TCGA-ZB-A965-01A-11D-A428-09	31494715	41280717	156741713	4	1176											
PHOX2B	8929	genome.wustl.edu	37	chr4	41747864	41747864	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaaggcggctttggcaccgTtgggtctttggagcgaagat	7	11	15	8	3	1	1	0	0	1	1	1	3	1	2	1	5	1	3	1	5	2	4			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr4:41747864T>C	ENST00000226382.2	-	3	1264	c.905A>G	c.(904-906)aAc>aGc	p.N302S	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	302					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TTTGGCACCGTTGGGTCTTTG	0.687			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														0	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	0													25	34	31					4																	41747864		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.905A>G	4.37:g.41747864T>C	ENSP00000226382:p.Asn302Ser		Q6PJD9	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1	p.N302S	ENST00000226382.2	37	c.905	CCDS3463.1	4	.	.	.	.	.	.	.	.	.	.	T	14.30	2.493817	0.44352	.	.	ENSG00000109132	ENST00000226382	D	0.92048	-2.96	3.81	3.81	0.43845	.	0.103041	0.64402	D	0.000005	T	0.81987	0.4939	N	0.14661	0.345	0.46437	D	0.999045	P	0.38827	0.649	B	0.34779	0.189	T	0.79983	-0.1573	10	0.18710	T	0.47	.	11.9216	0.52795	0.0:0.0:0.0:1.0	.	302	Q99453	PHX2B_HUMAN	S	302	ENSP00000226382:N302S	ENSP00000226382:N302S	N	-	2	0	PHOX2B	41442621	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.762000	0.38451	1.719000	0.51432	0.254000	0.18369	AAC	0	NULL		0.687	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOX2B	protein_coding	OTTHUMT00000216832.2	24	137	0	0.00	0	0	T		0	0		41747864	-1	no_errors	ENST00000226382	ensembl	human	known	74_37	missense	14	72	41.67	37.93	10	44	SNP	1	C	C	41747864	T	C	41747864	3	2	96	1	0	0	0	0	1	0	0	0	11859	1725	60	3	43	3	PHOX2B	4	41747864	Missense_Mutation	SNP	T	TCGA-ZB-A965-01A-11D-A428-09		41747864	149406412	5	1177											
DSPP	1834	genome.wustl.edu	37	chr4	88537109	88537117	+	In_Frame_Del	DEL	AGCAGCGAC	AGCAGCGAC	-																															atagcagtgacagcagcgatAgcagcgacagcagcgacagc																								rs369973717|rs201186956|rs199799532	byFrequency	TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	AGCAGCGAC	AGCAGCGAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr4:88537109_88537117delAGCAGCGAC	ENST00000282478.7	+	4	3328_3336	c.3295_3303delAGCAGCGAC	c.(3295-3303)agcagcgacdel	p.SSD1117del	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.SSD1117del			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1117	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	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)		cagcagcgatagcagcgacagcagcgaca	0.541																																							0											0																																										SO:0001651	inframe_deletion	0			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.3295_3303delAGCAGCGAC	4.37:g.88537118_88537126delAGCAGCGAC	ENSP00000282478:p.Ser1117_Asp1119del		A8MUI0|O95815	In_Frame_Del	DEL	NULL	p.SSD1102in_frame_del	ENST00000282478.7	37	c.3295_3303	CCDS43248.1	4																																																																																			0	NULL		0.541	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	12	1	0	0.00	0	0	AGCAGCGAC	NM_014208	0	0		88537117	1	no_errors	ENST00000282478	ensembl	human	known	74_37	in_frame_del	9	1	30.77	0.00	4	0	DEL	0.865:0.905:0.920:0.917:0.890:0.802:0.835:0.850:0.862	0	-	88537117	AGCAGCGAC	-	88537109	7	5	96	1	0	1	0	1	0	0	0	0	4782	420	15	0	3309	0	DSPP	4	88537109	In_Frame_Del	DEL	AGCAGCGAC	TCGA-ZB-A965-01A-11D-A428-09	46789245	88537109	102617167	6	1178											
METTL14	57721	genome.wustl.edu	37	chr4	119626850	119626850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaatgttgacattgacttaAttatcacagaagaacctgaa	16	12	6	7	0	1	5	1	3	0	2	1	5	1	5	1	0	1	1	1	0	6	5			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr4:119626850A>G	ENST00000388822.5	+	10	1107	c.940A>G	c.(940-942)Att>Gtt	p.I314V	METTL14_ENST00000506780.1_Missense_Mutation_p.I276V			Q9HCE5	MET14_HUMAN	methyltransferase like 14	314					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						CATTGACTTAATTATCACAGA	0.373																																							0											0													137	137	137					4																	119626850		2203	4300	6503	SO:0001583	missense	0			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.940A>G	4.37:g.119626850A>G	ENSP00000373474:p.Ile314Val		A6NIG1|Q969V2	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.I314V	ENST00000388822.5	37	c.940	CCDS34053.1	4	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569264	0.86439	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.53206	0.63;0.63	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.79926	2.475	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.65573	0.914;0.936	T	0.74551	-0.3628	10	0.87932	D	0	-3.4559	16.1758	0.81851	1.0:0.0:0.0:0.0	.	276;314	D6RBL4;Q9HCE5	.;MTL14_HUMAN	V	314;276	ENSP00000373474:I314V;ENSP00000424111:I276V	ENSP00000373474:I314V	I	+	1	0	METTL14	119846298	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.730000	0.91510	2.225000	0.72522	0.477000	0.44152	ATT	0	pfam_MT-A70-like,pfscan_MT-A70-like		0.373	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL14	protein_coding	OTTHUMT00000364034.3	95	269	0	0.37	0	1	A	NM_020961	0	0		119626850	1	no_errors	ENST00000388822	ensembl	human	known	74_37	missense	52	229	16.13	14.87	10	40	SNP	1	G	G	119626850	A	G	119626850	3	3	96	1	0	0	0	0	1	0	0	0	9498	101	4	3	978	3	METTL14	4	119626850	Missense_Mutation	SNP	A	TCGA-ZB-A965-01A-11D-A428-09	31089741	119626850	71527426	7	1179											
SYNE1	23345	genome.wustl.edu	37	chr6	152734623	152734623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caaccaacatagttcatgctCgtgagaattcaattcatctt	13	13	5	10	1	4	1	3	1	1	1	5	2	4	1	1	0	3	2	1	0	5	5	rs367594476		TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr6:152734623C>G	ENST00000367255.5	-	42	6695	c.6094G>C	c.(6094-6096)Gag>Cag	p.E2032Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2069Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2032Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2039Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2039Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2032					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)		AGTTCATGCTCGTGAGAATTC	0.343										HNSCC(10;0.0054)																													0											0													170	157	161					6																	152734623		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6094G>C	6.37:g.152734623C>G	ENSP00000356224:p.Glu2032Gln		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.E2032Q	ENST00000367255.5	37	c.6094	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514587	0.27123	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.39	5.39	0.77823	.	0.102248	0.42821	D	0.000651	T	0.06690	0.0171	N	0.11023	0.085	0.80722	D	1	B;B;B;B	0.22541	0.071;0.024;0.024;0.009	B;B;B;B	0.22753	0.041;0.013;0.013;0.013	T	0.20605	-1.0270	10	0.06625	T	0.88	.	8.5129	0.33229	0.0:0.7105:0.2053:0.0842	.	2015;2032;2032;2039	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	2032;2039;2032;2039;2069	ENSP00000356224:E2032Q;ENSP00000396024:E2039Q;ENSP00000265368:E2032Q;ENSP00000390975:E2039Q;ENSP00000341887:E2069Q	ENSP00000265368:E2032Q	E	-	1	0	SYNE1	152776316	1.000000	0.71417	0.997000	0.53966	0.627000	0.37826	4.665000	0.61547	2.537000	0.85549	0.655000	0.94253	GAG	0	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom		0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	134	285	0	0.00	0	0	C	NM_182961	0	0		152734623	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	63	150	30	38.11	27	93	SNP	1	G	G	152734623	C	G	152734623	3	3	96	1	0	0	0	0	1	0	0	0	15442	893	31	5	20792	5	SYNE1	6	152734623	Missense_Mutation	SNP	C	TCGA-ZB-A965-01A-11D-A428-09		152734623	18380444	8	1180											
GET4	51608	genome.wustl.edu	37	chr7	935032	935034	+	In_Frame_Del	DEL	CGA	CGA	-																															gatggggaggagagccccagCgacggcagccccatcgagct																								rs376218277|rs144524340		TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	CGA	CGA	CGA	-	CGA	CGA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr7:935032_935034delCGA	ENST00000265857.3	+	9	1051_1053	c.957_959delCGA	c.(955-960)agcgac>agc	p.D320del	GET4_ENST00000407192.1_In_Frame_Del_p.D267del	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	320					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGAGCCCCAGCGACGGCAGCCCC	0.65																																							0											0																																										SO:0001651	inframe_deletion	0			AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"CGI-20 protein", "conserved edge protein", "transmembrane domain recognition complex, 35kDa"	612056	"chromosome 7 open reading frame 20"	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.957_959delCGA	7.37:g.935032_935034delCGA	ENSP00000265857:p.Asp320del		A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	In_Frame_Del	DEL	pfam_UPF0363	p.D320in_frame_del	ENST00000265857.3	37	c.957_959	CCDS5317.1	7																																																																																			0	NULL		0.65	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GET4	protein_coding	OTTHUMT00000231930.1	55	53	0	0.00	0	0	CGA	NM_015949	0	0		935034	1	no_errors	ENST00000265857	ensembl	human	known	74_37	in_frame_del	33	29	15.38	39.58	6	19	DEL	1.000:1.000:1.000	0	-	935034	CGA	-	935032	7	5	96	1	0	1	0	1	0	0	0	0	6336	767	27	0	991	0	GET4	7	935032	In_Frame_Del	DEL	CGA	TCGA-ZB-A965-01A-11D-A428-09		935032	158203631	9	1181											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	512	120	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	170	66	44.26	50.38	135	67	SNP	1	A	A	74146970	T	A	74146970	3	1	96	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A965-01A-11D-A428-09	73211938	74146970	84991693	10	1182											
RP1L1	94137	genome.wustl.edu	37	chr8	10466172	10466172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttcaccctgcaagttGtcctcatgcccagagccttg	7	10	9	15	0	2	1	2	0	0	1	3	1	3	1	4	0	4	4	4	0	1	3			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr8:10466172G>T	ENST00000382483.3	-	4	5659	c.5436C>A	c.(5434-5436)gaC>gaA	p.D1812E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1892					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)		CCTGCAAGTTGTCCTCATGCC	0.617																																							0											0													171	194	186					8																	10466172		2122	4224	6346	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5436C>A	8.37:g.10466172G>T	ENSP00000371923:p.Asp1812Glu		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.D1812E	ENST00000382483.3	37	c.5436	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	3.134	-0.177802	0.06380	.	.	ENSG00000183638	ENST00000382483	T	0.04156	3.69	4.59	-1.57	0.08506	.	2.377180	0.02593	U	0.100218	T	0.02649	0.0080	N	0.19112	0.55	0.09310	N	1	B	0.30824	0.296	B	0.26864	0.074	T	0.33471	-0.9867	10	0.10111	T	0.7	0.3996	0.647	0.00820	0.2734:0.1122:0.3075:0.307	.	1812	A6NKC6	.	E	1812	ENSP00000371923:D1812E	ENSP00000371923:D1812E	D	-	3	2	RP1L1	10503582	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-0.553000	0.06012	-0.271000	0.09272	0.455000	0.32223	GAC	0	NULL		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	35	201	2.78	0.00	1	0	G		0	0		10466172	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	26	204	10.34	7.66	3	17	SNP	0	T	T	10466172	G	T	10466172	3	4	96	1	0	0	0	0	1	0	0	0	13533	1368	48	5	1770	5	RP1L1	8	10466172	Missense_Mutation	SNP	G	TCGA-ZB-A965-01A-11D-A428-09		10466172	135897850	11	1183											
PLIN2	123	genome.wustl.edu	37	chr9	19120930	19120930	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctaccaacagctctgatttGgtgagtgcattttctacgcc	8	14	8	11	1	3	2	0	2	3	0	3	2	3	2	2	1	5	2	2	1	3	5			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr9:19120930G>T	ENST00000276914.2	-	5	722	c.543C>A	c.(541-543)acC>acA	p.T181T	PLIN2_ENST00000411567.1_Intron	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	181					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						GCTCTGATTTGGTGAGTGCAT	0.438																																							0											0													149	131	137					9																	19120930		2203	4300	6503	SO:0001819	synonymous_variant	0			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.543C>A	9.37:g.19120930G>T			Q9BSC3	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.T181	ENST00000276914.2	37	c.543	CCDS6490.1	9																																																																																			0	pfam_Perilipin,pirsf_Perilipin		0.438	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	protein_coding	OTTHUMT00000051835.1	31	162	0	0.00	0	0	G	NM_001122	0	0		19120930	-1	no_errors	ENST00000276914	ensembl	human	known	74_37	silent	14	116	36.36	38.22	8	73	SNP	0.998	T	T	19120930	G	T	19120930	2	4	96	1	0	0	0	0	0	0	0	1	12090	1335	47	5		5	PLIN2	9	19120930	Silent	SNP	G	TCGA-ZB-A965-01A-11D-A428-09		19120930	122092501	12	1184											
RHOBTB1	9886	genome.wustl.edu	37	chr10	62648684	62648690	+	Frame_Shift_Del	DEL	ACTCTGG	ACTCTGG	-																															atttgtccccatggaaggacActctggaattttgatgaccg																								rs202064331|rs148015761		TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	ACTCTGG	ACTCTGG	ACTCTGG	-	ACTCTGG	ACTCTGG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr10:62648684_62648690delACTCTGG	ENST00000337910.5	-	6	1073_1079	c.736_742delCCAGAGT	c.(736-744)ccagagtgtfs	p.PEC246fs	RHOBTB1_ENST00000357917.4_Frame_Shift_Del_p.PEC246fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	246					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)					ATGGAAGGACACTCTGGAATTTTGATG	0.483																																							0											0																																										SO:0001589	frameshift_variant	0			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.736_742delCCAGAGT	10.37:g.62648684_62648690delACTCTGG	ENSP00000338671:p.Pro246fs			Frame_Shift_Del	DEL	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.P246fs	ENST00000337910.5	37	c.742_736	CCDS7261.1	10																																																																																			0	superfamily_BTB/POZ_fold		0.483	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	protein_coding	OTTHUMT00000048220.1	74	234	0	0.00	0	0	ACTCTGG		0	0		62648690	-1	no_errors	ENST00000337910	ensembl	human	known	74_37	frame_shift_del	38	154	24	12.00	12	21	DEL	1.000:0.927:0.995:0.995:0.936:1.000:1.000	0	-	62648690	ACTCTGG	-	62648684	7	5	96	1	0	1	0	1	0	0	0	0	13333	159	6	0	1372	0	RHOBTB1	10	62648684	Frame_Shift_Del	DEL	ACTCTGG	TCGA-ZB-A965-01A-11D-A428-09		62648684	72886063	13	1185											
HRAS	3265	genome.wustl.edu	37	chr11	534285	534285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcgcactcttgcccacaCcgccggcgcccaccaccacc	7	4	7	23	4	2	0	1	0	1	0	2	0	2	0	7	1	2	1	7	1	0	1	rs104894226		TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000417302.1_Missense_Mutation_p.G13V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;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)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	25	Substitution - Missense(24)|Insertion - In frame(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	GRCh37	CM053285	HRAS	M	rs104894226						89	83	85					11																	534285		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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.G13V	ENST00000451590.1	37	c.38	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT	0	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		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	45	88	0	0.00	0	0	C	NM_176795	rs104894226	C->A,G,T		534285	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	9	51	64	46.32	16	44	SNP	1	A	A	534285	C	A	534285	3	1	96	1	0	0	0	0	1	0	0	0	7348	507	18	5	614	5	HRAS	11	534285	Missense_Mutation	SNP	C	TCGA-ZB-A965-01A-11D-A428-09		534285	134472231	14	1186											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103019260	103019260	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catttgttactgaggctatgGaagtcttaacaattatgccc	11	14	8	8	0	1	1	0	1	1	0	1	2	1	2	1	2	3	2	1	2	6	5	rs61898615	byFrequency	TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr11:103019260G>T	ENST00000375735.2	+	20	3004	c.2860G>T	c.(2860-2862)Gaa>Taa	p.E954*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E954*|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	954	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)		TGAGGCTATGGAAGTCTTAAC	0.333																																							0											0													79	69	72					11																	103019260		1825	4083	5908	SO:0001587	stop_gained	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2860G>T	11.37:g.103019260G>T	ENSP00000364887:p.Glu954*		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	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,smart_AAA+_ATPase	p.E954*	ENST00000375735.2	37	c.2860	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.702773	0.98920	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.64	4.72	0.59763	.	0.262756	0.29676	U	0.011487	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	10.883	0.46951	0.1531:0.0:0.8469:0.0	.	.	.	.	X	954	.	ENSP00000364887:E954X	E	+	1	0	DYNC2H1	102524470	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	3.831000	0.55776	1.354000	0.45846	0.585000	0.79938	GAA	0	NULL		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	105	257	0	0.00	0	0	G	XM_370652	0	0		103019260	1	no_errors	ENST00000398093	ensembl	human	known	74_37	nonsense	33	156	34	37.70	17	95	SNP	1	T	T	103019260	G	T	103019260	4	4	96	1	0	0	0	0	0	1	0	0	4846	1175	41	5	2938	5	DYNC2H1	11	103019260	Nonsense_Mutation	SNP	G	TCGA-ZB-A965-01A-11D-A428-09	102484975	103019260	31987256	15	1187											
CD3E	916	genome.wustl.edu	37	chr11	118184528	118184528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttactactggagcaaGaatagaaaggccaaggccaa	15	7	11	8	0	0	2	0	0	0	2	0	3	0	3	2	4	3	2	2	4	8	4			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr11:118184528G>T	ENST00000361763.4	+	7	750	c.459G>T	c.(457-459)aaG>aaT	p.K153N	CD3E_ENST00000528600.1_Missense_Mutation_p.K147N	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	153					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	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;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	ACTGGAGCAAGAATAGAAAGG	0.552																																							0											0													77	68	71					11																	118184528		2200	4296	6496	SO:0001583	missense	0			X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"CD molecules"	1674	protein-coding gene	gene with protein product		186830	"CD3e antigen, epsilon polypeptide (TiT3 complex)"				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.459G>T	11.37:g.118184528G>T	ENSP00000354566:p.Lys153Asn		A8K997	Missense_Mutation	SNP	pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.K153N	ENST00000361763.4	37	c.459	CCDS31685.1	11	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241433	0.79912	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T;T	0.28454	1.61;1.61	4.97	4.97	0.65823	.	0.057363	0.64402	D	0.000002	T	0.60869	0.2302	M	0.88031	2.925	0.49130	D	0.999757	D	0.89917	1.0	D	0.85130	0.997	T	0.67448	-0.5668	10	0.66056	D	0.02	.	13.5993	0.62010	0.0:0.0:1.0:0.0	.	153	P07766	CD3E_HUMAN	N	153;147	ENSP00000354566:K153N;ENSP00000433975:K147N	ENSP00000354566:K153N	K	+	3	2	CD3E	117689738	0.999000	0.42202	0.987000	0.45799	0.973000	0.67179	1.810000	0.38932	2.582000	0.87167	0.491000	0.48974	AAG	0	NULL		0.552	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD3E	protein_coding	OTTHUMT00000392120.1	28	84	0	0.00	0	0	G	NM_000733	0	0		118184528	1	no_errors	ENST00000361763	ensembl	human	known	74_37	missense	10	72	60	42.40	15	53	SNP	0.987	T	T	118184528	G	T	118184528	3	4	96	1	0	0	0	0	1	0	0	0	3011	933	33	5	481	5	CD3E	11	118184528	Missense_Mutation	SNP	G	TCGA-ZB-A965-01A-11D-A428-09	15165268	118184528	16821988	16	1188											
NFATC4	4776	genome.wustl.edu	37	chr14	24839464	24839464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccagctctgtcccgccGtggcagcctgggggaagagg	5	6	15	15	2	1	1	0	0	1	1	3	2	3	2	5	4	2	2	5	4	1	0			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr14:24839464G>A	ENST00000250373.4	+	2	1001	c.860G>A	c.(859-861)cGt>cAt	p.R287H	NFATC4_ENST00000553469.1_Missense_Mutation_p.R319H|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000554966.1_Missense_Mutation_p.R300H|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000554591.1_Missense_Mutation_p.R350H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R300H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R275H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R217H|NFATC4_ENST00000413692.2_Missense_Mutation_p.R350H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R300H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R319H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R319H|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000555453.1_Missense_Mutation_p.R275H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R275H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R287H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R217H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R217H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R287H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R217H	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	287	2 approximate SP repeats.|Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|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 involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGTCCCGCCGTGGCAGCCTG	0.706																																							0											0													15	18	17					14																	24839464		2195	4282	6477	SO:0001583	missense	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.860G>A	14.37:g.24839464G>A	ENSP00000250373:p.Arg287His		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.R350H	ENST00000250373.4	37	c.1049	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917416	0.73098	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000003	T	0.34542	0.0901	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.997;1.0;0.997;1.0;1.0;0.997;0.997;0.997;0.997;1.0;0.998;1.0;1.0	P;P;D;P;D;D;P;P;P;P;D;P;D;D	0.91635	0.748;0.871;0.999;0.871;0.999;0.999;0.871;0.871;0.871;0.871;0.999;0.813;0.999;0.998	T	0.06954	-1.0798	10	0.72032	D	0.01	-3.7082	14.5485	0.68050	0.0:0.0:1.0:0.0	.	275;275;319;319;300;300;300;350;350;275;319;264;350;287	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	350;350;300;300;300;319;319;319;287;287;287;217;217;217;275;217;275;275	ENSP00000388910:R350H;ENSP00000452039:R350H;ENSP00000451224:R300H;ENSP00000450644:R300H;ENSP00000388668:R300H;ENSP00000439350:R319H;ENSP00000452270:R319H;ENSP00000451502:R319H;ENSP00000451151:R287H;ENSP00000250373:R287H;ENSP00000450590:R287H;ENSP00000452349:R217H;ENSP00000450469:R217H;ENSP00000450733:R217H;ENSP00000451454:R275H;ENSP00000451284:R217H;ENSP00000396788:R275H;ENSP00000450686:R275H	ENSP00000250373:R287H	R	+	2	0	NFATC4	23909304	0.850000	0.29656	0.920000	0.36463	0.981000	0.71138	2.084000	0.41625	2.368000	0.80403	0.467000	0.42956	CGT	0	NULL		0.706	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	protein_coding	OTTHUMT00000073206.6	64	80	0	0.00	0	0	G	NM_004554	0	0		24839464	1	no_errors	ENST00000413692	ensembl	human	known	74_37	missense	39	33	33.9	47.62	20	30	SNP	0.934	A	A	24839464	G	A	24839464	3	1	96	1	0	0	0	0	1	0	0	0	10365	1145	40	1	1059	1	NFATC4	14	24839464	Missense_Mutation	SNP	G	TCGA-ZB-A965-01A-11D-A428-09		24839464	82510076	17	1189											
SOS2	6655	genome.wustl.edu	37	chr14	50697942	50697942	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggccgagaccaacagtccCcgccatttcggactgttctc	8	8	10	15	3	1	1	0	0	1	1	4	3	2	2	5	2	1	1	5	2	1	2			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr14:50697942C>G	ENST00000216373.5	-	1	334	c.60G>C	c.(58-60)cgG>cgC	p.R20R	SOS2_ENST00000543680.1_Silent_p.R20R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	20					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)					CCAACAGTCCCCGCCATTTCG	0.721																																							0											0													13	16	15					14																	50697942		2200	4294	6494	SO:0001819	synonymous_variant	0			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.60G>C	14.37:g.50697942C>G			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.R20	ENST00000216373.5	37	c.60	CCDS9697.1	14																																																																																			0	superfamily_Histone-fold		0.721	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	protein_coding	OTTHUMT00000276878.2	10	81	0	0.00	0	0	C		0	0		50697942	-1	no_errors	ENST00000216373	ensembl	human	known	74_37	silent	5	58	66.67	32.56	10	28	SNP	1	G	G	50697942	C	G	50697942	2	3	96	1	0	0	0	0	0	0	0	1	14937	610	22	5		5	SOS2	14	50697942	Silent	SNP	C	TCGA-ZB-A965-01A-11D-A428-09	25858478	50697942	56651598	18	1190											
SCN4A	6329	genome.wustl.edu	37	chr17	62043590	62043590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcttgatgcactcataacCctcagggcagtgcctaggaa	10	9	11	11	0	3	1	2	1	1	0	3	2	3	2	2	3	3	2	2	3	3	3			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr17:62043590C>T	ENST00000435607.1	-	8	1190	c.1114G>A	c.(1114-1116)Ggt>Agt	p.G372S	SCN4A_ENST00000578147.1_Missense_Mutation_p.G372S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	372					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)	CACTCATAACCCTCAGGGCAG	0.577																																							0											0													39	42	41					17																	62043590		2043	4214	6257	SO:0001583	missense	0			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.1114G>A	17.37:g.62043590C>T	ENSP00000396320:p.Gly372Ser		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.G372S	ENST00000435607.1	37	c.1114	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189440	0.78789	.	.	ENSG00000007314	ENST00000435607	D	0.96967	-4.19	4.44	4.44	0.53790	Ion transport (1);	0.051499	0.85682	D	0.000000	D	0.96476	0.8850	M	0.79926	2.475	0.53688	D	0.999975	P	0.47962	0.903	P	0.50082	0.63	D	0.96149	0.9106	10	0.62326	D	0.03	.	9.9337	0.41539	0.0:0.9068:0.0:0.0932	.	372	P35499	SCN4A_HUMAN	S	372	ENSP00000396320:G372S	ENSP00000396320:G372S	G	-	1	0	SCN4A	59397322	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.834000	0.62774	2.298000	0.77334	0.313000	0.20887	GGT	0	pfam_Ion_trans_dom		0.577	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	protein_coding		96	173	0	0.00	0	0	C	NM_000334	0	0		62043590	-1	no_errors	ENST00000435607	ensembl	human	known	74_37	missense	34	103	34.62	29.45	18	43	SNP	1	T	T	62043590	C	T	62043590	3	4	96	1	0	0	0	0	1	0	0	0	13920	623	22	3	4464	3	SCN4A	17	62043590	Missense_Mutation	SNP	C	TCGA-ZB-A965-01A-11D-A428-09		62043590	19151620	19	1191											
MUC16	94025	genome.wustl.edu	37	chr19	9063747	9063747	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcatggttatttctgctGattctgtcatgacaggggat	7	17	11	6	0	4	2	2	2	2	0	4	3	4	3	0	3	1	3	0	3	1	4			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr19:9063747G>C	ENST00000397910.4	-	3	23902	c.23699C>G	c.(23698-23700)tCa>tGa	p.S7900*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7902	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						TATTTCTGCTGATTCTGTCAT	0.493																																							0											0													221	201	207					19																	9063747		2018	4188	6206	SO:0001587	stop_gained	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23699C>G	19.37:g.9063747G>C	ENSP00000381008:p.Ser7900*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S7900*	ENST00000397910.4	37	c.23699	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	59	37.229337	0.99984	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.05	-2.16	0.07080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.1314	0.03751	0.3432:0.0:0.4074:0.2494	.	.	.	.	X	7900	.	ENSP00000381008:S7900X	S	-	2	0	MUC16	8924747	0.001000	0.12720	0.000000	0.03702	0.137000	0.21094	0.196000	0.17176	-0.372000	0.07992	0.187000	0.17357	TCA	0	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	51	255	0	0.00	0	0	G	NM_024690	0	0		9063747	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	nonsense	17	137	46.88	47.71	15	125	SNP	0	C	C	9063747	G	C	9063747	4	2	96	1	0	0	0	0	0	1	0	0	9973	1294	45	5	20152	5	MUC16	19	9063747	Nonsense_Mutation	SNP	G	TCGA-ZB-A965-01A-11D-A428-09		9063747	50065236	20	1192											
ZNF91	7644	genome.wustl.edu	37	chr19	23544831	23544831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtagggtttctctccaGtatgaattctcttatgttta	8	20	7	6	0	2	1	0	1	2	0	5	1	3	1	1	1	0	4	1	1	5	8			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr19:23544831G>T	ENST00000300619.7	-	4	1155	c.950C>A	c.(949-951)aCt>aAt	p.T317N	ZNF91_ENST00000397082.2_Missense_Mutation_p.T285N|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	317					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTCTCTCCAGTATGAATTCT	0.398																																							0											0													67	71	69					19																	23544831		2146	4275	6421	SO:0001583	missense	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.950C>A	19.37:g.23544831G>T	ENSP00000300619:p.Thr317Asn		A8K5E1|B7Z6G6	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.T317N	ENST00000300619.7	37	c.950	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	8.678	0.904473	0.17760	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.26067	1.76;1.76	1.97	0.462	0.16695	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22126	0.0533	N	0.04373	-0.215	0.26334	N	0.977476	B;D	0.53312	0.42;0.959	B;P	0.58620	0.078;0.842	T	0.28808	-1.0032	9	0.87932	D	0	.	10.0483	0.42199	0.0:0.3634:0.6366:0.0	.	285;317	Q05481-2;Q05481	.;ZNF91_HUMAN	N	317;285	ENSP00000300619:T317N;ENSP00000380272:T285N	ENSP00000300619:T317N	T	-	2	0	ZNF91	23336671	0.993000	0.37304	0.000000	0.03702	0.010000	0.07245	2.155000	0.42301	0.097000	0.17492	0.162000	0.16502	ACT	0	pfscan_Znf_C2H2		0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	protein_coding	OTTHUMT00000465891.1	88	4	0	0.00	0	0	G	NM_003430	0	0		23544831	-1	no_errors	ENST00000300619	ensembl	human	known	74_37	missense	47	4	7.84	0.00	4	0	SNP	0.952	T	T	23544831	G	T	23544831	3	4	96	1	0	0	0	0	1	0	0	0	18197	1029	36	5	2629	5	ZNF91	19	23544831	Missense_Mutation	SNP	G	TCGA-ZB-A965-01A-11D-A428-09	14481084	23544831	35584152	21	1193											
PAX1	5075	genome.wustl.edu	37	chr20	21690063	21690063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgcggcagcaatgaccttCaagcatcccagccgagaagg	11	5	11	14	3	1	2	1	1	0	1	3	3	2	2	3	2	3	3	3	2	3	1			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr20:21690063C>T	ENST00000398485.2	+	4	1317	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	PAX1_ENST00000444366.2_Silent_p.F397F	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	421					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						CAATGACCTTCAAGCATCCCA	0.697																																							0											0													7	7	7					20																	21690063		1973	3801	5774	SO:0001819	synonymous_variant	0				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.1263C>T	20.37:g.21690063C>T			B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.F421	ENST00000398485.2	37	c.1263	CCDS13146.2	20																																																																																			0	NULL		0.697	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	protein_coding	OTTHUMT00000078282.3	11	54	0	0.00	0	0	C		0	0		21690063	1	no_errors	ENST00000398485	ensembl	human	known	74_37	silent	5	37	37.5	47.89	3	34	SNP	1	T	T	21690063	C	T	21690063	2	4	96	1	0	0	0	0	0	0	0	1	11478	825	29	3		3	PAX1	20	21690063	Silent	SNP	C	TCGA-ZB-A965-01A-11D-A428-09		21690063	41335457	22	1194											
CDH22	64405	genome.wustl.edu	37	chr20	44869801	44869801	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccatggcatgaatgtcGcctgtcagctcgtcgatcag	7	10	11	13	4	2	1	2	1	0	0	6	2	3	1	2	1	1	3	2	1	1	0			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr20:44869801G>A	ENST00000372262.3	-	2	751	c.351C>T	c.(349-351)ggC>ggT	p.G117G	CDH22_ENST00000537909.1_Silent_p.G117G	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	117	Cadherin 1. {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)				CATGAATGTCGCCTGTCAGCT	0.637																																							0											0													79	68	72					20																	44869801		2203	4300	6503	SO:0001819	synonymous_variant	0			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.351C>T	20.37:g.44869801G>A			B9EGK7|O43205	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G117	ENST00000372262.3	37	c.351	CCDS13395.1	20																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.637	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	protein_coding	OTTHUMT00000080491.1	39	93	0	0.00	0	0	G	NM_021248	0	0		44869801	-1	no_errors	ENST00000372262	ensembl	human	known	74_37	silent	8	37	66.67	45.59	16	31	SNP	0.024	A	A	44869801	G	A	44869801	2	1	96	1	0	0	0	0	0	0	0	1	3107	1074	38	1		1	CDH22	20	44869801	Silent	SNP	G	TCGA-ZB-A965-01A-11D-A428-09	23179738	44869801	18155719	23	1195											
LZTR1	8216	genome.wustl.edu	37	chr22	21337374	21337374	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgtatttggtggagacAatgggtgagtgagtctcagc	9	14	14	4	0	1	3	1	2	1	1	2	4	1	3	0	3	1	1	0	3	3	4			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr22:21337374A>G	ENST00000215739.8	+	2	618	c.259A>G	c.(259-261)Aat>Gat	p.N87D	XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000389355.3_Missense_Mutation_p.N87D|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	87					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)			TGGTGGAGACAATGGGTGAGT	0.527																																							0											0													169	151	157					22																	21337374		2203	4300	6503	SO:0001583	missense	0			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.259A>G	22.37:g.21337374A>G	ENSP00000215739:p.Asn87Asp		Q14776|Q20WK0	Missense_Mutation	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.N87D	ENST00000215739.8	37	c.259	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451711	0.63290	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.66995	1.06;-0.24	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	N	0.05078	-0.115	0.80722	D	1	P;B;D	0.67145	0.615;0.274;0.996	B;B;D	0.76071	0.1;0.363;0.987	T	0.62129	-0.6919	10	0.25751	T	0.34	-21.3159	11.8581	0.52451	1.0:0.0:0.0:0.0	.	87;87;46	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	D	46;87;87	ENSP00000215739:N87D;ENSP00000374006:N87D	ENSP00000215739:N87D	N	+	1	0	LZTR1	19667374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.571000	0.90752	1.897000	0.54924	0.459000	0.35465	AAT	0	pfam_Kelch_1,smart_Kelch_1		0.527	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	protein_coding	OTTHUMT00000320387.1	71	195	0	0.00	0	0	A	NM_006767	0	0		21337374	1	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	29	119	39.58	33.33	19	60	SNP	1	G	G	21337374	A	G	21337374	3	3	96	1	0	0	0	0	1	0	0	0	9137	130	5	3	265	3	LZTR1	22	21337374	Missense_Mutation	SNP	A	TCGA-ZB-A965-01A-11D-A428-09		21337374	29967192	24	1196											
TCF20	6942	genome.wustl.edu	37	chr22	42608141	42608141	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgataagcagaggccagggtTtctgagttgggagaaaaggg	12	8	17	4	0	1	4	0	2	1	2	1	5	1	4	1	4	1	3	1	4	3	3			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chr22:42608141T>G	ENST00000359486.3	-	1	3307	c.3171A>C	c.(3169-3171)gaA>gaC	p.E1057D	TCF20_ENST00000335626.4_Missense_Mutation_p.E1057D|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1057					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						AGGCCAGGGTTTCTGAGTTGG	0.498																																							0											0													69	70	70					22																	42608141		2203	4300	6503	SO:0001583	missense	0			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.3171A>C	22.37:g.42608141T>G	ENSP00000352463:p.Glu1057Asp		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.E1057D	ENST00000359486.3	37	c.3171	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	T	13.45	2.239882	0.39598	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.60040	0.22;0.22	5.81	-0.398	0.12418	.	0.076607	0.53938	D	0.000045	T	0.28466	0.0704	N	0.12182	0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.02603	-1.1135	10	0.32370	T	0.25	-12.2894	1.3909	0.02250	0.1184:0.2007:0.2451:0.4358	.	1057;1057	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	D	1057	ENSP00000352463:E1057D;ENSP00000335561:E1057D	ENSP00000335561:E1057D	E	-	3	2	TCF20	40938085	0.998000	0.40836	0.997000	0.53966	0.993000	0.82548	0.250000	0.18235	-0.107000	0.12088	0.533000	0.62120	GAA	0	NULL		0.498	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	protein_coding	OTTHUMT00000320531.1	53	239	0	0.00	0	0	T	NM_181492	0	0		42608141	-1	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	30	164	40	41.07	20	115	SNP	0.995	G	G	42608141	T	G	42608141	3	3	96	1	0	0	0	0	1	0	0	0	15687	1838	64	5	2749	5	TCF20	22	42608141	Missense_Mutation	SNP	T	TCGA-ZB-A965-01A-11D-A428-09	21270767	42608141	8696425	25	1197											
NR0B1	190	genome.wustl.edu	37	chrX	30326468	30326468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaaatggtgctgcagcGtgggcacgggcagtggctcg	6	7	18	10	3	0	0	0	0	0	0	1	0	0	0	1	4	4	5	1	4	1	0			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chrX:30326468G>A	ENST00000378970.4	-	1	1247	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	NR0B1_ENST00000453287.1_Missense_Mutation_p.T338M|NR0B1_ENST00000378963.1_Missense_Mutation_p.T43M	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	338	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)	GTGCTGCAGCGTGGGCACGGG	0.642											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													27	23	25					X																	30326468		2201	4297	6498	SO:0001583	missense	0			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.1013C>T	X.37:g.30326468G>A	ENSP00000368253:p.Thr338Met	816	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.T338M	ENST00000378970.4	37	c.1013	CCDS14223.1	X	.	.	.	.	.	.	.	.	.	.	G	6.857	0.527496	0.13066	.	.	ENSG00000169297	ENST00000378970;ENST00000378963;ENST00000453287	D;D;D	0.96300	-3.97;-1.96;-3.97	4.76	0.92	0.19397	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	1.591830	0.03598	N	0.232871	D	0.93058	0.7790	L	0.40543	1.245	0.09310	N	1	B	0.34313	0.448	B	0.32465	0.146	D	0.85173	0.0999	10	0.46703	T	0.11	-12.6428	5.8986	0.18953	0.2307:0.0:0.6357:0.1335	.	338	P51843	NR0B1_HUMAN	M	338;43;338	ENSP00000368253:T338M;ENSP00000368246:T43M;ENSP00000396403:T338M	ENSP00000368246:T43M	T	-	2	0	NR0B1	30236389	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.033000	0.12246	0.103000	0.17682	-0.245000	0.11935	ACG	0	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.642	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	protein_coding	OTTHUMT00000056161.1	74	75	0	0.00	0	0	G	NM_000475	0	0		30326468	-1	no_errors	ENST00000378970	ensembl	human	known	74_37	missense	27	37	41.3	32.14	19	18	SNP	0	A	A	30326468	G	A	30326468	3	1	96	1	0	0	0	0	1	0	0	0	10613	1145	40	1	407	1	NR0B1	23	30326468	Missense_Mutation	SNP	G	TCGA-ZB-A965-01A-11D-A428-09		30326468	124944092	26	1198											
FAM123B	139285	genome.wustl.edu	37	chrX	63411803	63411803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctggtcactctgaggaGtcaaaagttccccaggggct	8	10	12	11	0	3	1	2	1	1	0	4	2	4	2	2	4	1	3	2	4	2	2			TCGA-ZB-A965-01A-11D-A428-09	TCGA-ZB-A965-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a2bbec71-ac68-4c79-ae2f-53e3ed39bffb	9a8ab89f-dab5-469c-8a2f-b039eaa0aa10	g.chrX:63411803G>T	ENST00000330258.3	-	2	1636	c.1364C>A	c.(1363-1365)aCt>aAt	p.T455N	AMER1_ENST00000403336.1_Missense_Mutation_p.T455N|AMER1_ENST00000374869.3_Missense_Mutation_p.T455N	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	455					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)									ACTCTGAGGAGTCAAAAGTTC	0.552																																							0											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											108	80	90					X																	63411803		2203	4300	6503	SO:0001583	missense	0			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.1364C>A	X.37:g.63411803G>T	ENSP00000329117:p.Thr455Asn		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.T455N	ENST00000330258.3	37	c.1364	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025248	0.54683	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.19532	2.14;2.14;2.14	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	M	0.68593	2.085	0.43300	D	0.995291	D	0.89917	1.0	D	0.85130	0.997	T	0.40590	-0.9555	10	0.72032	D	0.01	-12.4506	16.762	0.85514	0.0:0.0:1.0:0.0	.	455	Q5JTC6	F123B_HUMAN	N	455	ENSP00000364003:T455N;ENSP00000329117:T455N;ENSP00000384722:T455N	ENSP00000329117:T455N	T	-	2	0	FAM123B	63328528	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.095000	0.71439	2.618000	0.88619	0.600000	0.82982	ACT	0	pfam_Uncharacterised_FAM123		0.552	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER1	protein_coding	OTTHUMT00000316584.1	25	211	0	0.00	0	0	G	NM_152424	0	0		63411803	-1	no_errors	ENST00000330258	ensembl	human	known	74_37	missense	9	153	43.75	35.44	7	84	SNP	1	T	T	63411803	G	T	63411803	3	4	96	1	0	0	0	0	1	0	0	0	5423	1029	36	5	2047	5	FAM123B	23	63411803	Missense_Mutation	SNP	G	TCGA-ZB-A965-01A-11D-A428-09	33085335	63411803	91858757	27	1199											
MEGF6	1953	genome.wustl.edu	37	chr1	3410403	3410404	+	Frame_Shift_Ins	INS	-	-	C																															ggtgacagggtcacagggtgINScccccccgtcacagtcacag																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:3410403_3410404insC	ENST00000356575.4	-	34	4544_4545	c.4318_4319insG	c.(4318-4320)gcafs	p.A1440fs	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1440						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A1440P(1)		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)		GTCACAGGGTGCCCCCCCGTCA	0.668																																					Ovarian(73;978 3658)		0											1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0			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.4319dupG	1.37:g.3410410_3410410dupC	ENSP00000348982:p.Ala1440fs		Q4AC86|Q5VV39	Frame_Shift_Ins	INS	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.A1440fs	ENST00000356575.4	37	c.4319_4318	CCDS41237.1	1																																																																																			0	smart_EG-like_dom,smart_EGF_laminin		0.668	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	protein_coding	OTTHUMT00000354866.1	54	95	0	0.00	0	0	0	NM_001409	0	0		3410404	-1	no_errors	ENST00000356575	ensembl	human	known	74_37	frame_shift_ins	36	73	21.74	29.13	10	30	INS	0.000:0.000	C	C	3410404	-	C	3410403	7	5	97	1	0	1	1	0	0	0	0	0	9462	1319	46	0	322	0	MEGF6	1	3410403	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09		3410403	245840218	1	1200											
CCDC27	148870	genome.wustl.edu	37	chr1	3672108	3672108	+	Frame_Shift_Del	DEL	G	G	-																															ggacctgttcttggccaggcGgggctcagacacgaacgtgg																								rs201434850	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:3672108delG	ENST00000294600.2	+	3	614	c.530delG	c.(529-531)cggfs	p.R177fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	177										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)		TTGGCCAGGCGGGGCTCAGAC	0.632																																							0											0													133	143	140					1																	3672108		2203	4300	6503	SO:0001589	frameshift_variant	0				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.530delG	1.37:g.3672108delG	ENSP00000294600:p.Arg177fs		Q5TBV3|Q96M50	Frame_Shift_Del	DEL	superfamily_Prefoldin	p.G178fs	ENST00000294600.2	37	c.530	CCDS50.1	1																																																																																			0	NULL		0.632	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	protein_coding	OTTHUMT00000009740.1	23	109	0	0.00	0	0	G	NM_152492	0	0		3672108	1	no_errors	ENST00000294600	ensembl	human	known	74_37	frame_shift_del	14	70	26.32	30.69	5	31	DEL	0	0	-	3672108	G	-	3672108	7	5	97	1	0	1	0	1	0	0	0	0	2801	1116	39	0	540	0	CCDC27	1	3672108	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	261705	3672108	245578513	2	1201											
GPR153	387509	genome.wustl.edu	37	chr1	6314015	6314015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatcacgcccatggccacGctgccgcccaccagcagcag	9	3	10	19	3	1	1	1	0	0	1	1	1	1	1	5	1	3	3	5	1	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:6314015G>A	ENST00000377893.2	-	3	808	c.549C>T	c.(547-549)agC>agT	p.S183S		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-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;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCATGGCCACGCTGCCGCCCA	0.687																																							0											0													31	35	34					1																	6314015		2201	4298	6499	SO:0001819	synonymous_variant	0			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.549C>T	1.37:g.6314015G>A			Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162	p.S183	ENST00000377893.2	37	c.549	CCDS64.1	1																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GCR_153/162		0.687	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	protein_coding	OTTHUMT00000003717.2	35	9	0	0.00	0	0	G		0	0		6314015	-1	no_errors	ENST00000377893	ensembl	human	known	74_37	silent	33	10	13.16	0.00	5	0	SNP	0.863	A	A	6314015	G	A	6314015	2	1	97	1	0	0	0	0	0	0	0	1	6659	1078	38	1		1	GPR153	1	6314015	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2641907	6314015	242936606	3	1202											
PLEKHG5	57449	genome.wustl.edu	37	chr1	6536002	6536003	+	Frame_Shift_Del	DEL	CA	CA	-																															ctcacctaccctttgccatcCacagagctctcctcctcctc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	CA	CA	CA	-	CA	CA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:6536002_6536003delCA	ENST00000400915.3	-	4	371_372	c.305_306delTG	c.(304-306)gtgfs	p.V102fs	PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.V115fs|PLEKHG5_ENST00000377748.1_Frame_Shift_Del_p.V123fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.V83fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.V123fs|PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.V125fs	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	102					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)		CTTTGCCATCCACAGAGCTCTC	0.644											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0																																										SO:0001589	frameshift_variant	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.305_306delTG	1.37:g.6536004_6536005delCA	ENSP00000383706:p.Val102fs	634	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Frame_Shift_Del	DEL	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V125fs	ENST00000400915.3	37	c.375_374	CCDS41241.1	1																																																																																			0	NULL		0.644	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	protein_coding	OTTHUMT00000002631.1	49	93	0	0.00	0	0	CA	NM_020631	0	0		6536003	-1	no_errors	ENST00000537245	ensembl	human	known	74_37	frame_shift_del	33	75	17.5	23.47	7	23	DEL	0.069:0.003	0	-	6536003	CA	-	6536002	7	5	97	1	0	1	0	1	0	0	0	0	12073	581	21	0	2958	0	PLEKHG5	1	6536002	Frame_Shift_Del	DEL	CA	TCGA-ZB-A966-01A-11D-A428-09	221987	6536002	242714619	4	1203											
SLC45A1	50651	genome.wustl.edu	37	chr1	8385928	8385928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccgggacattggcatcGccctggctgacgtgaccggg	6	7	16	12	4	0	2	0	2	0	0	1	3	0	3	3	5	0	2	3	5	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:8385928G>A	ENST00000471889.1	+	4	926	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A215T|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A181T|Y_RNA_ENST00000516445.1_RNA			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	181					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CATTGGCATCGCCCTGGCTGA	0.612																																							0											0													96	87	90					1																	8385928		2203	4300	6503	SO:0001583	missense	0			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.541G>A	1.37:g.8385928G>A	ENSP00000418096:p.Ala181Thr		Q5VY46|Q5VY49	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.A215T	ENST00000471889.1	37	c.643	CCDS30577.1	1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745332	0.69418	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.95656	-3.77;-3.77;-3.77	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);	0.103006	0.64402	D	0.000003	D	0.95755	0.8619	M	0.73217	2.22	0.51482	D	0.999929	D	0.59357	0.985	P	0.51999	0.687	D	0.94818	0.7984	10	0.39692	T	0.17	-38.4453	12.9135	0.58192	0.0:0.0:0.8379:0.1621	.	181	Q9Y2W3	S45A1_HUMAN	T	181;215;181	ENSP00000418096:A181T;ENSP00000366699:A215T;ENSP00000289877:A181T	ENSP00000289877:A181T	A	+	1	0	SLC45A1	8308515	1.000000	0.71417	0.920000	0.36463	0.187000	0.23431	5.507000	0.66999	2.447000	0.82792	0.655000	0.94253	GCC	0	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.612	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	protein_coding	OTTHUMT00000001245.5	43	80	0	0.00	0	0	G		0	0		8385928	1	no_errors	ENST00000377479	ensembl	human	known	74_37	missense	16	75	44.83	24.75	13	25	SNP	0.983	A	A	8385928	G	A	8385928	3	1	97	1	0	0	0	0	1	0	0	0	14640	1087	38	1	551	1	SLC45A1	1	8385928	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1849926	8385928	240864693	5	1204											
SLC45A1	50651	genome.wustl.edu	37	chr1	8386016	8386016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactttagcgccgactcggCggacaaccccagccacgcct	8	5	11	17	5	0	0	0	0	0	0	1	3	0	2	5	3	3	0	5	3	2	2	rs150539474		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:8386016C>T	ENST00000471889.1	+	4	1014	c.629C>T	c.(628-630)gCg>gTg	p.A210V	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A244V|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A210V|Y_RNA_ENST00000516445.1_RNA			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	210					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGACTCGGCGGACAACCCC	0.652																																							0											0								C	VAL/ALA	0,4406		0,0,2203	94	86	89		629	4.4	0.2	1	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC45A1	NM_001080397.1	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	210/749	8386016	2,13004	2203	4300	6503	SO:0001583	missense	0			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.629C>T	1.37:g.8386016C>T	ENSP00000418096:p.Ala210Val		Q5VY46|Q5VY49	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.A244V	ENST00000471889.1	37	c.731	CCDS30577.1	1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566651	0.28003	0.0	2.33E-4	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.92911	-3.13;-3.13;-3.13	5.32	4.39	0.52855	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90971	0.7161	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86632	0.1886	10	0.02654	T	1	-23.2589	14.3838	0.66929	0.149:0.851:0.0:0.0	.	210	Q9Y2W3	S45A1_HUMAN	V	210;244;210	ENSP00000418096:A210V;ENSP00000366699:A244V;ENSP00000289877:A210V	ENSP00000289877:A210V	A	+	2	0	SLC45A1	8308603	1.000000	0.71417	0.151000	0.22473	0.082000	0.17680	5.971000	0.70440	1.213000	0.43380	-0.181000	0.13052	GCG	0	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.652	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	protein_coding	OTTHUMT00000001245.5	47	86	0	0.00	0	0	C		rs150539474	C->T		8386016	1	no_errors	ENST00000377479	ensembl	human	known	74_37	missense	37	69	27.45	32.35	14	33	SNP	0.973	T	T	8386016	C	T	8386016	3	4	97	1	0	0	0	0	1	0	0	0	14640	768	27	1	639	1	SLC45A1	1	8386016	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	88	8386016	240864605	6	1205											
SLC2A7	155184	genome.wustl.edu	37	chr1	9085042	9085042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttgtgcccaccttgtgcGgcgtgttgaccacagagagg	7	9	13	12	2	0	2	0	1	0	1	0	3	0	2	4	2	2	1	4	2	0	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:9085042G>A	ENST00000400906.1	-	2	142	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	48					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)		caccttgtgcGGCGTGTTGAC	0.657																																							0											0													52	52	52					1																	9085042		2203	4300	6503	SO:0001583	missense	0			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.143C>T	1.37:g.9085042G>A	ENSP00000383698:p.Pro48Leu		A2A333	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.P48L	ENST00000400906.1	37	c.143	CCDS98.2	1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931568	0.52866	.	.	ENSG00000197241	ENST00000400906	T	0.74002	-0.8	4.33	2.45	0.29901	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.215597	0.39210	N	0.001430	D	0.88797	0.6534	H	0.96604	3.85	0.41585	D	0.988768	D	0.89917	1.0	D	0.91635	0.999	D	0.87858	0.2662	10	0.87932	D	0	.	7.9757	0.30153	0.1833:0.0:0.8167:0.0	.	48	Q6PXP3	GTR7_HUMAN	L	48	ENSP00000383698:P48L	ENSP00000383698:P48L	P	-	2	0	SLC2A7	9007629	1.000000	0.71417	0.049000	0.19019	0.569000	0.35902	5.202000	0.65169	0.466000	0.27193	0.462000	0.41574	CCG	0	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.657	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A7	protein_coding	OTTHUMT00000127768.3	79	71	1.25	0.00	1	0	G	NM_207420	0	0		9085042	-1	no_errors	ENST00000400906	ensembl	human	known	74_37	missense	56	67	22.22	36.19	16	38	SNP	0.588	A	A	9085042	G	A	9085042	3	1	97	1	0	0	0	0	1	0	0	0	14550	1116	39	2	1439	2	SLC2A7	1	9085042	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	699026	9085042	240165579	7	1206											
PGD	5226	genome.wustl.edu	37	chr1	10477498	10477498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctaaggcaggcagccacCgagtttggctggactctcaa	9	8	12	12	1	1	0	1	0	1	0	2	2	1	1	2	4	2	5	2	4	2	2	rs530138934		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:10477498C>T	ENST00000270776.8	+	10	1079	c.1041C>T	c.(1039-1041)acC>acT	p.T347T	PGD_ENST00000538557.1_Silent_p.T334T|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Silent_p.T325T	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	347					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	AGGCAGCCACCGAGTTTGGCT	0.537													C|||	1	0.000199681	8e-04	0	5008	,	,		21778	0		0	False		,,,				2504	0						0.9998,0.0001997											0													142	137	139					1																	10477498		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1041C>T	1.37:g.10477498C>T			A8K2Y9|B4DQJ8|Q9BWD8	Silent	SNP	pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox	p.T347	ENST00000270776.8	37	c.1041	CCDS113.1	1																																																																																			0	pfam_6PGDH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox		0.537	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGD	protein_coding	OTTHUMT00000005398.1	33	50	0	0.00	0	0	C	NM_002631	rs530138934	C->T		10477498	1	no_errors	ENST00000270776	ensembl	human	known	74_37	silent	20	68	39.39	26.88	13	25	SNP	0.27	T	T	10477498	C	T	10477498	2	4	97	1	0	0	0	0	0	0	0	1	11787	639	23	2		2	PGD	1	10477498	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1392456	10477498	238773123	8	1207											
C1orf127	148345	genome.wustl.edu	37	chr1	11007833	11007833	+	Frame_Shift_Del	DEL	C	C	-																															cagctcctgctggagtgaggCcccccggccagcctggaagg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:11007833delC	ENST00000377008.4	-	11	2304	c.1858delG	c.(1858-1860)gccfs	p.A620fs	C1orf127_ENST00000377004.4_Frame_Shift_Del_p.A787fs			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	620										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)		TGGAGTGAGGCCCCCCGGCCA	0.627																																							0											0													24	24	24					1																	11007833		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1858delG	1.37:g.11007833delC	ENSP00000366207:p.Ala620fs		A0AVG8|A6NKM7|Q5VXJ2	Frame_Shift_Del	DEL	superfamily_DNA-bd_dom_put	p.A787fs	ENST00000377008.4	37	c.2359		1																																																																																			0	superfamily_DNA-bd_dom_put		0.627	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	protein_coding		20	70	0	0.00	0	0	C	NM_173507	0	0		11007833	-1	no_errors	ENST00000377004	ensembl	human	known	74_37	frame_shift_del	6	37	53.85	32.73	7	18	DEL	0	0	-	11007833	C	-	11007833	7	5	97	1	0	1	0	1	0	0	0	0	1994	739	26	0	116	0	C1orf127	1	11007833	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	530335	11007833	238242788	9	1208											
MTOR	2475	genome.wustl.edu	37	chr1	11169741	11169741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctggcactgtggtccccGttttcttatgggctggctct	3	16	11	11	1	3	0	0	0	3	0	4	0	4	0	2	4	0	4	2	4	1	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:11169741G>A	ENST00000361445.4	-	55	7488	c.7412C>T	c.(7411-7413)aCg>aTg	p.T2471M	MTOR_ENST00000376838.1_Missense_Mutation_p.T676M	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2471	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)	TGTGGTCCCCGTTTTCTTATG	0.418																																							0											0													124	121	122					1																	11169741		2203	4300	6503	SO:0001583	missense	0			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.7412C>T	1.37:g.11169741G>A	ENSP00000354558:p.Thr2471Met		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	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.T2471M	ENST00000361445.4	37	c.7412	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057108	0.55325	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.23348	3.13;2.88;1.91	5.84	4.93	0.64822	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.152541	0.64402	D	0.000014	T	0.15565	0.0375	N	0.12746	0.255	0.36505	D	0.869212	B	0.15141	0.012	B	0.10450	0.005	T	0.09143	-1.0688	10	0.40728	T	0.16	-12.8915	12.3036	0.54889	0.0775:0.0:0.9225:0.0	.	2471	P42345	MTOR_HUMAN	M	2471;676;127	ENSP00000354558:T2471M;ENSP00000366034:T676M;ENSP00000398745:T127M	ENSP00000354558:T2471M	T	-	2	0	MTOR	11092328	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	9.182000	0.94881	1.483000	0.48342	0.655000	0.94253	ACG	0	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.418	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	protein_coding	OTTHUMT00000005558.1	86	206	0	0.00	0	0	G	NM_004958	0	0		11169741	-1	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	29	199	34.09	29.18	15	82	SNP	0.997	A	A	11169741	G	A	11169741	3	1	97	1	0	0	0	0	1	0	0	0	9954	1145	40	1	253	1	MTOR	1	11169741	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	161908	11169741	238080880	10	1209											
SPEN	23013	genome.wustl.edu	37	chr1	16256949	16256950	+	Frame_Shift_Ins	INS	-	-	T																															tatgaaagttctcgattgtcINSttttttattgagggacagag																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:16256949_16256950insT	ENST00000375759.3	+	11	4418_4419	c.4214_4215insT	c.(4213-4218)tcttttfs	p.SF1405fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1405					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)		TCTCGATTGTCTTTTTTATTGA	0.416																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4220dupT	1.37:g.16256955_16256955dupT	ENSP00000364912:p.Ser1405fs		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.L1407fs	ENST00000375759.3	37	c.4214_4215	CCDS164.1	1																																																																																			0	NULL		0.416	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	31	210	0	0.00	0	0	0	NM_015001	0	0		16256950	1	no_errors	ENST00000375759	ensembl	human	known	74_37	frame_shift_ins	20	178	23.08	25.21	6	60	INS	1.000:1.000	T	T	16256950	-	T	16256949	7	5	97	1	0	1	1	0	0	0	0	0	15037	913	32	0	4256	0	SPEN	1	16256949	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	5087208	16256949	232993672	11	1210											
CLCNKA	1187	genome.wustl.edu	37	chr1	16355778	16355778	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttgggacccttgcctTcttcctggttatgaaggtgg	5	15	11	10	0	2	1	0	1	2	0	3	2	3	2	3	4	1	1	3	4	2	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:16355778T>G	ENST00000331433.4	+	12	1230	c.1211T>G	c.(1210-1212)tTc>tGc	p.F404C	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.F404C|CLCNKA_ENST00000439316.2_Missense_Mutation_p.F361C|CLCNKA_ENST00000375692.1_Missense_Mutation_p.F404C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	404					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)	ACCCTTGCCTTCTTCCTGGTT	0.662																																							0											0													72	75	74					1																	16355778		2203	4300	6503	SO:0001583	missense	0				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.1211T>G	1.37:g.16355778T>G	ENSP00000332771:p.Phe404Cys		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	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.F404C	ENST00000331433.4	37	c.1211	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.340602	0.41498	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	3.2	3.2	0.36748	Chloride channel, core (2);	0.159995	0.56097	D	0.000035	D	0.92283	0.7552	M	0.63428	1.95	0.51767	D	0.999934	P;P;P	0.36733	0.567;0.567;0.567	B;B;B	0.38500	0.275;0.275;0.275	D	0.91478	0.5202	10	0.56958	D	0.05	.	9.6261	0.39752	0.0:0.0:0.0:1.0	.	361;404;404	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	C	404;404;361;404	ENSP00000364844:F404C;ENSP00000410353:F404C;ENSP00000414445:F361C;ENSP00000332771:F404C	ENSP00000332771:F404C	F	+	2	0	CLCNKA	16228365	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.634000	0.54302	1.458000	0.47871	0.260000	0.18958	TTC	0	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core		0.662	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	protein_coding	OTTHUMT00000026326.1	57	199	0	0.00	0	0	T		0	0		16355778	1	no_errors	ENST00000331433	ensembl	human	known	74_37	missense	39	161	17.02	4.71	8	8	SNP	1	G	G	16355778	T	G	16355778	3	3	97	1	0	0	0	0	1	0	0	0	3469	1783	62	5	1253	5	CLCNKA	1	16355778	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	98829	16355778	232894843	12	1211											
SDHB	6390	genome.wustl.edu	37	chr1	17354321	17354321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccttcttcttcaaataagGctcaatggatttgtactgtg	10	16	7	8	0	4	0	2	0	2	0	5	1	5	1	1	2	1	2	1	2	4	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:17354321G>A	ENST00000375499.3	-	5	613	c.463C>T	c.(463-465)Cct>Tct	p.P155S		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	155					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		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;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	TTCAAATAAGGCTCAATGGAT	0.403			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														0	yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"		O	0													130	120	123					1																	17354321		2203	4300	6503	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;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"Mitochondrial respiratory chain complex / Complex II"	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.463C>T	1.37:g.17354321G>A	ENSP00000364649:p.Pro155Ser		B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S	p.P155S	ENST00000375499.3	37	c.463	CCDS176.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296562	0.81025	.	.	ENSG00000117118	ENST00000375499	D	0.97480	-4.4	5.89	5.89	0.94794	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98991	1.0808	10	0.87932	D	0	-14.8617	18.8118	0.92061	0.0:0.0:1.0:0.0	.	155	P21912	DHSB_HUMAN	S	155	ENSP00000364649:P155S	ENSP00000364649:P155S	P	-	1	0	SDHB	17226908	1.000000	0.71417	0.997000	0.53966	0.382000	0.30200	7.371000	0.79600	2.790000	0.95986	0.655000	0.94253	CCT	0	superfamily_Helical_ferredxn,tigrfam_Succ_DH/fum_Rdtase_Fe-S		0.403	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHB	protein_coding	OTTHUMT00000006603.1	44	169	0	0.58	0	1	G	NM_003000	0	0		17354321	-1	no_errors	ENST00000375499	ensembl	human	known	74_37	missense	33	138	23.26	33.49	10	70	SNP	1	A	A	17354321	G	A	17354321	3	1	97	1	0	0	0	0	1	0	0	0	13965	1203	42	3	395	3	SDHB	1	17354321	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	998543	17354321	231896300	13	1212											
MUL1	79594	genome.wustl.edu	37	chr1	20827665	20827665	+	Frame_Shift_Del	DEL	C	C	-																															gccaacccctgtgagggtggCccccaccttcagcatctcct																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:20827665delC	ENST00000264198.3	-	4	713	c.577delG	c.(577-579)gccfs	p.A193fs		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	193					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|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)		GTGAGGGTGGCCCCCACCTTC	0.592																																							0											0													91	90	90					1																	20827665		2203	4300	6503	SO:0001589	frameshift_variant	0			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.577delG	1.37:g.20827665delC	ENSP00000264198:p.Ala193fs		B5M497|Q7Z431|Q9H9B5	Frame_Shift_Del	DEL	pfam_MULAN,pfscan_Znf_RING	p.A193fs	ENST00000264198.3	37	c.577	CCDS208.1	1																																																																																			0	pfam_MULAN		0.592	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUL1	protein_coding	OTTHUMT00000007951.1	32	215	0	0.00	0	0	C	NM_024544	0	0		20827665	-1	no_errors	ENST00000264198	ensembl	human	known	74_37	frame_shift_del	18	162	33.33	22.49	9	47	DEL	1	0	-	20827665	C	-	20827665	7	5	97	1	0	1	0	1	0	0	0	0	9984	739	26	0	485	0	MUL1	1	20827665	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	3473344	20827665	228422956	14	1213											
HP1BP3	50809	genome.wustl.edu	37	chr1	21106338	21106338	+	Frame_Shift_Del	DEL	T	T	-																															ctccccttcagcaagcttgcTtttgggaggagtttcccggg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:21106338delT	ENST00000312239.5	-	3	302	c.163delA	c.(163-165)agcfs	p.S55fs	HP1BP3_ENST00000487117.1_5'UTR|HP1BP3_ENST00000375000.1_Frame_Shift_Del_p.S55fs	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	55					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)		GCAAGCTTGCTTTTGGGAGGA	0.418																																							0											0													81	78	79					1																	21106338		2203	4300	6503	SO:0001589	frameshift_variant	0			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.163delA	1.37:g.21106338delT	ENSP00000312625:p.Ser55fs		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Frame_Shift_Del	DEL	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	p.S55fs	ENST00000312239.5	37	c.163	CCDS30621.1	1																																																																																			0	NULL		0.418	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HP1BP3	protein_coding	OTTHUMT00000007457.2	117	286	0	0.00	0	0	T	NM_016287	0	0		21106338	-1	no_errors	ENST00000312239	ensembl	human	known	74_37	frame_shift_del	96	285	27.27	29.28	36	118	DEL	1	0	-	21106338	T	-	21106338	7	5	97	1	0	1	0	1	0	0	0	0	7328	1609	56	0	1542	0	HP1BP3	1	21106338	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	278673	21106338	228144283	15	1214											
EIF4G3	8672	genome.wustl.edu	37	chr1	21306905	21306905	+	Frame_Shift_Del	DEL	G	G	-																															tggttgaactggatattgttGggggggcccaacataaggag																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:21306905delG	ENST00000264211.8	-	4	441	c.247delC	c.(247-249)caafs	p.Q84fs	EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.Q84fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.Q91fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.Q84fs|EIF4G3_ENST00000356916.3_Frame_Shift_Del_p.Q95fs|EIF4G3_ENST00000602326.1_Frame_Shift_Del_p.Q91fs|EIF4G3_ENST00000374927.4_Frame_Shift_Del_p.Q84fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	84					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)		GGATATTGTTGGGGGGGCCCA	0.443																																							0											0													23	27	26					1																	21306905		2203	4300	6503	SO:0001589	frameshift_variant	0			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.247delC	1.37:g.21306905delG	ENSP00000264211:p.Gln84fs		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.Q90fs	ENST00000264211.8	37	c.268	CCDS214.1	1																																																																																			0	NULL		0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	protein_coding	OTTHUMT00000007467.3	160	201	0	0.00	0	0	G	NM_003760	0	0		21306905	-1	no_errors	ENST00000374937	ensembl	human	known	74_37	frame_shift_del	99	164	23.26	22.27	30	47	DEL	1	0	-	21306905	G	-	21306905	7	5	97	1	0	1	0	1	0	0	0	0	5038	1357	47	0	4622	0	EIF4G3	1	21306905	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	200567	21306905	227943716	16	1215											
ALPL	249	genome.wustl.edu	37	chr1	21904120	21904120	+	Frame_Shift_Del	DEL	C	C	-																															ctgctcgcgctggccctctaCcccctgagcgtcctgttctg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:21904120delC	ENST00000374840.3	+	12	1804	c.1554delC	c.(1552-1554)tacfs	p.Y518fs	ALPL_ENST00000540617.1_Frame_Shift_Del_p.Y463fs|ALPL_ENST00000374829.1_Frame_Shift_Del_p.Y164fs|ALPL_ENST00000425315.2_Frame_Shift_Del_p.Y518fs|ALPL_ENST00000374830.1_Frame_Shift_Del_p.Y164fs|ALPL_ENST00000374832.1_Frame_Shift_Del_p.Y518fs|ALPL_ENST00000539907.1_Frame_Shift_Del_p.Y441fs	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	518					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)	TGGCCCTCTACCCCCTGAGCG	0.706																																							0											0													15	14	14					1																	21904120		2194	4275	6469	SO:0001589	frameshift_variant	0			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.1554delC	1.37:g.21904120delC	ENSP00000363973:p.Tyr518fs		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Frame_Shift_Del	DEL	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.L520fs	ENST00000374840.3	37	c.1554	CCDS217.1	1																																																																																			0	NULL		0.706	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	protein_coding	OTTHUMT00000008202.1	38	36	0	0.00	0	0	C	NM_000478	0	0		21904120	1	no_errors	ENST00000374832	ensembl	human	known	74_37	frame_shift_del	18	28	30.77	26.32	8	10	DEL	0	0	-	21904120	C	-	21904120	7	5	97	1	0	1	0	1	0	0	0	0	547	518	18	0	1596	0	ALPL	1	21904120	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	597215	21904120	227346501	17	1216											
C1QC	714	genome.wustl.edu	37	chr1	22973773	22973773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggcagaagggagaacccGgcttacccggccatcctggg	10	4	15	12	2	0	2	0	0	0	2	1	3	1	2	4	5	2	2	4	5	4	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:22973773G>A	ENST00000374639.3	+	3	353	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	C1QC_ENST00000374640.4_Missense_Mutation_p.G79S|C1QC_ENST00000374637.1_Missense_Mutation_p.G79S	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	79	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		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;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	GGGAGAACCCGGCTTACCCGG	0.647																																					Ovarian(26;671 750 8290 29071 43278)		0											0													30	35	33					1																	22973773		2203	4300	6503	SO:0001583	missense	0			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.235G>A	1.37:g.22973773G>A	ENSP00000363770:p.Gly79Ser		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G79S	ENST00000374639.3	37	c.235	CCDS227.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446076	0.84101	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	D;D;D	0.99329	-5.75;-5.75;-5.75	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	H	0.97540	4.025	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97411	1.0002	10	0.87932	D	0	.	16.7212	0.85410	0.0:0.0:1.0:0.0	.	79	P02747	C1QC_HUMAN	S	79	ENSP00000363771:G79S;ENSP00000363770:G79S;ENSP00000363768:G79S	ENSP00000363768:G79S	G	+	1	0	C1QC	22846360	1.000000	0.71417	0.397000	0.26308	0.589000	0.36550	6.778000	0.75043	2.280000	0.76307	0.561000	0.74099	GGC	0	pfam_Collagen		0.647	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	protein_coding	OTTHUMT00000008083.1	46	121	0	0.00	0	0	G	NM_172369	0	0		22973773	1	no_errors	ENST00000374637	ensembl	human	known	74_37	missense	15	105	48.28	28.57	14	42	SNP	0.978	A	A	22973773	G	A	22973773	3	1	97	1	0	0	0	0	1	0	0	0	1957	1116	39	2	241	2	C1QC	1	22973773	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1069653	22973773	226276848	18	1217											
LUZP1	7798	genome.wustl.edu	37	chr1	23420409	23420409	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctctaattcagccattcGtttctgaagccgctcaatct	8	15	5	13	2	5	1	2	1	3	0	7	1	5	1	2	0	2	2	2	0	3	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:23420409G>A	ENST00000302291.4	-	4	1147	c.346C>T	c.(346-348)Cga>Tga	p.R116*	LUZP1_ENST00000418342.1_Nonsense_Mutation_p.R116*|LUZP1_ENST00000314174.5_Nonsense_Mutation_p.R116*|LUZP1_ENST00000374623.3_Nonsense_Mutation_p.R116*			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	116					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)		TCAGCCATTCGTTTCTGAAGC	0.473																																							0											0													77	86	83					1																	23420409		2203	4300	6503	SO:0001587	stop_gained	0			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.346C>T	1.37:g.23420409G>A	ENSP00000303758:p.Arg116*		Q5TH93|Q8N4X3|Q8TEH1	Nonsense_Mutation	SNP	NULL	p.R116*	ENST00000302291.4	37	c.346	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860587	0.91433	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849	.	.	.	6.17	5.25	0.73442	.	0.000000	0.40302	N	0.001134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1352	0.59405	0.0:0.0:0.5978:0.4022	.	.	.	.	X	116	.	ENSP00000303758:R116X	R	-	1	2	LUZP1	23292996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.861000	0.39438	1.584000	0.49913	0.655000	0.94253	CGA	0	NULL		0.473	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	protein_coding	OTTHUMT00000008900.3	55	221	0	0.00	0	0	G	NM_033631	0	0		23420409	-1	no_errors	ENST00000302291	ensembl	human	known	74_37	nonsense	39	197	27.78	28.10	15	77	SNP	1	A	A	23420409	G	A	23420409	4	1	97	1	0	0	0	0	0	1	0	0	9086	1153	40	1	2892	1	LUZP1	1	23420409	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	446636	23420409	225830212	19	1218											
SRRM1	10250	genome.wustl.edu	37	chr1	24979467	24979467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcgaagaagaactccGccaagaagaatgcctcctcc	12	7	7	15	2	1	4	0	0	1	4	6	5	4	4	6	0	2	0	6	0	6	0	rs142035407		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:24979467G>A	ENST00000323848.9	+	8	1299	c.984G>A	c.(982-984)ccG>ccA	p.P328P	SRRM1_ENST00000537199.1_Silent_p.P197P|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Silent_p.P323P|SRRM1_ENST00000447431.2_Silent_p.P328P	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	328	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)		GAAGAACTCCGCCAAGAAGAA	0.453													G|||	0	0	0	0	5008	,	,		17017	0		0	False		,,,				2504	0				Ovarian(68;897 1494 3282 17478)		1,0											0								G		0,4406		0,0,2203	58	55	56		984	-5	0.9	1	dbSNP_134	56	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SRRM1	NM_005839.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		328/905	24979467	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.984G>A	1.37:g.24979467G>A			O60585|Q5VVN4	Silent	SNP	pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom	p.P328	ENST00000323848.9	37	c.984	CCDS255.1	1																																																																																			0	NULL		0.453	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	protein_coding	OTTHUMT00000009292.2	123	39	0.81	0.00	1	0	G	NM_005839	rs142035407	G->A		24979467	1	no_errors	ENST00000447431	ensembl	human	known	74_37	silent	80	29	25.23	36.96	27	17	SNP	0.702	A	A	24979467	G	A	24979467	2	1	97	1	0	0	0	0	0	0	0	1	15167	1074	38	1		1	SRRM1	1	24979467	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1559058	24979467	224271154	20	1219											
CLIC4	25932	genome.wustl.edu	37	chr1	25140616	25140616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagaacttggctcccGggacccacccaccatttata	10	8	7	16	1	0	1	0	0	0	1	1	2	1	2	5	2	2	2	5	2	3	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:25140616G>A	ENST00000374379.4	+	3	411	c.214G>A	c.(214-216)Ggg>Agg	p.G72R	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	72	Required for insertion into the membrane. {ECO:0000305}.				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)		CTTGGCTCCCGGGACCCACCC	0.388																																							0											0													76	81	80					1																	25140616		2203	4300	6503	SO:0001583	missense	0			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.214G>A	1.37:g.25140616G>A	ENSP00000363500:p.Gly72Arg		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.G72R	ENST00000374379.4	37	c.214	CCDS256.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397626	0.83120	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.23147	1.92	5.85	5.85	0.93711	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	L	0.55213	1.73	0.52099	D	0.999945	D;P	0.89917	1.0;0.686	D;B	0.87578	0.998;0.138	T	0.38045	-0.9679	10	0.62326	D	0.03	-15.3439	18.9445	0.92616	0.0:0.0:1.0:0.0	.	52;72	B3KTR3;Q9Y696	.;CLIC4_HUMAN	R	72	ENSP00000363500:G72R	ENSP00000363500:G72R	G	+	1	0	CLIC4	25013203	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	9.343000	0.97047	2.768000	0.95171	0.655000	0.94253	GGG	0	superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel		0.388	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC4	protein_coding	OTTHUMT00000009332.1	90	271	1.09	0.00	1	0	G	NM_013943	0	0		25140616	1	no_errors	ENST00000374379	ensembl	human	known	74_37	missense	41	226	32.79	29.28	20	94	SNP	1	A	A	25140616	G	A	25140616	3	1	97	1	0	0	0	0	1	0	0	0	3528	1116	39	2	224	2	CLIC4	1	25140616	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	161149	25140616	224110005	21	1220											
C1orf63	57035	genome.wustl.edu	37	chr1	25573068	25573068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgcgcgatcgcgtacgcCcttccgcagtacgaccttcc	5	7	9	20	8	0	0	0	0	0	0	3	2	2	0	6	0	2	3	6	0	2	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:25573068C>A	ENST00000243189.7	-	2	663	c.387G>T	c.(385-387)agG>agT	p.R129S	C1orf63_ENST00000417642.2_Missense_Mutation_p.R122S|C1orf63_ENST00000431849.2_Missense_Mutation_p.R129S|RP3-465N24.6_ENST00000607698.1_lincRNA	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		129	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		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;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGCGTACGCCCTTCCGCAGT	0.657																																							0											0													75	67	69					1																	25573068		2203	4300	6503	SO:0001583	missense	0																														ENST00000243189.7:c.387G>T	1.37:g.25573068C>A	ENSP00000243189:p.Arg129Ser		A8K917|Q49AA4|Q5TH71|Q9GZP6	Missense_Mutation	SNP	NULL	p.R122S	ENST00000243189.7	37	c.366	CCDS260.1	1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845874	0.51164	.	.	ENSG00000117616	ENST00000243189;ENST00000417642;ENST00000431849	T;T;T	0.55234	1.24;1.24;0.53	4.21	-1.13	0.09775	.	0.493562	0.16741	N	0.201453	T	0.27278	0.0669	N	0.22421	0.69	0.09310	N	1	B	0.22909	0.077	B	0.19391	0.025	T	0.08576	-1.0715	10	0.20519	T	0.43	-0.1826	1.6621	0.02794	0.1285:0.3741:0.252:0.2453	.	129	Q9BUV0	CA063_HUMAN	S	129;122;129	ENSP00000243189:R129S;ENSP00000411631:R122S;ENSP00000391510:R129S	ENSP00000243189:R129S	R	-	3	2	C1orf63	25445655	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.084000	0.11268	-0.076000	0.12775	-0.304000	0.09214	AGG	0	NULL		0.657	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf63	protein_coding	OTTHUMT00000101966.2	47	115	0	0.00	0	0	C		0	0		25573068	-1	no_errors	ENST00000417642	ensembl	human	known	74_37	missense	25	99	23.53	29.79	8	42	SNP	0	A	A	25573068	C	A	25573068	3	1	97	1	0	0	0	0	1	0	0	0	2053	622	22	5	501	5	C1orf63	1	25573068	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	432452	25573068	223677553	22	1221											
DHDDS	79947	genome.wustl.edu	37	chr1	26769265	26769265	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcctagaggtgacagTctacgcattcagcattgaga	11	9	12	9	1	2	3	1	2	1	2	3	4	3	3	1	2	2	3	1	2	2	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:26769265T>A	ENST00000236342.7	+	4	317	c.224T>A	c.(223-225)gTc>gAc	p.V75D	DHDDS_ENST00000374185.3_Missense_Mutation_p.V75D|DHDDS_ENST00000360009.2_Missense_Mutation_p.V75D|DHDDS_ENST00000525682.2_Missense_Mutation_p.V75D|DHDDS_ENST00000526219.1_Missense_Mutation_p.V75D|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000427245.2_Missense_Mutation_p.V75D			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	75					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)		GAGGTGACAGTCTACGCATTC	0.517																																							0											0													172	164	167					1																	26769265		2203	4300	6503	SO:0001583	missense	0			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.224T>A	1.37:g.26769265T>A	ENSP00000236342:p.Val75Asp		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.V75D	ENST00000236342.7	37	c.224	CCDS282.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.136026	0.94517	.	.	ENSG00000117682	ENST00000374190;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525546;ENST00000436153;ENST00000430232	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	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	H	0.98754	4.32	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;1.0;0.997;0.994	D	0.92577	0.6071	10	0.87932	D	0	-12.6427	15.5442	0.76081	0.0:0.0:0.0:1.0	.	75;75;75;75	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	D	43;75;75;75;75;75;75;75;75;75;75;75;75	ENSP00000399177:V75D;ENSP00000434984:V75D;ENSP00000236342:V75D;ENSP00000434219:V75D;ENSP00000363300:V75D;ENSP00000353104:V75D;ENSP00000436119:V75D;ENSP00000436764:V75D;ENSP00000434185:V75D;ENSP00000433976:V75D;ENSP00000397584:V75D	ENSP00000236342:V75D	V	+	2	0	DHDDS	26641852	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.956000	0.87863	2.266000	0.75297	0.533000	0.62120	GTC	0	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like		0.517	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHDDS	protein_coding	OTTHUMT00000392504.1	51	215	0	0.00	0	0	T	NM_024887	0	0		26769265	1	no_errors	ENST00000360009	ensembl	human	known	74_37	missense	36	173	21.74	30.24	10	75	SNP	1	A	A	26769265	T	A	26769265	3	1	97	1	0	0	0	0	1	0	0	0	4478	1667	58	5	234	5	DHDDS	1	26769265	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	1196197	26769265	222481356	23	1222											
PTPRU	10076	genome.wustl.edu	37	chr1	29585175	29585175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaccctgggcgtctacgtgCgcgttaatgggggccccctg	4	8	15	14	4	1	0	0	0	1	0	1	0	1	0	3	3	2	2	3	3	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:29585175C>T	ENST00000345512.3	+	3	493	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	PTPRU_ENST00000323874.8_Missense_Mutation_p.R122C|PTPRU_ENST00000428026.2_Missense_Mutation_p.R122C|PTPRU_ENST00000373779.3_Missense_Mutation_p.R122C|PTPRU_ENST00000356870.3_Missense_Mutation_p.R122C|PTPRU_ENST00000460170.2_Missense_Mutation_p.R122C	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	122	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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.R122C(3)		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)		CGTCTACGTGCGCGTTAATGG	0.627																																							0											3	Substitution - Missense(3)	endometrium(3)											90	100	97					1																	29585175		2203	4300	6503	SO:0001583	missense	0			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.364C>T	1.37:g.29585175C>T	ENSP00000334941:p.Arg122Cys		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.R122C	ENST00000345512.3	37	c.364	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992332	0.93167	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.02631	4.22;4.22;4.22;4.22;4.22;4.22	5.72	5.72	0.89469	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.64402	D	0.000001	T	0.16300	0.0392	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	0.68192	0.927;0.927;0.927;0.956;0.956	T	0.00036	-1.2256	9	.	.	.	.	14.0961	0.65023	0.0:0.926:0.0:0.074	.	122;122;122;122;122	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	C	122	ENSP00000334941:R122C;ENSP00000362884:R122C;ENSP00000349333:R122C;ENSP00000314987:R122C;ENSP00000392332:R122C;ENSP00000432906:R122C	.	R	+	1	0	PTPRU	29457762	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	2.619000	0.46401	2.699000	0.92147	0.591000	0.81541	CGC	0	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	21	95	0	0.00	0	0	C		0	0		29585175	1	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	17	68	34.62	20.93	9	18	SNP	1	T	T	29585175	C	T	29585175	3	4	97	1	0	0	0	0	1	0	0	0	12813	768	27	1	374	1	PTPRU	1	29585175	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2815910	29585175	219665446	24	1223											
MAP7D1	55700	genome.wustl.edu	37	chr1	36642311	36642313	+	In_Frame_Del	DEL	AGA	AGA	-																															ctgccaggtgcagaaaaaggAgaagaaggacaaggagcggg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AGA	AGA	AGA	-	AGA	AGA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:36642311_36642313delAGA	ENST00000373151.2	+	8	1463_1465	c.1247_1249delAGA	c.(1246-1251)gagaag>gag	p.K418del	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000373150.4_In_Frame_Del_p.K386del|MAP7D1_ENST00000316156.4_In_Frame_Del_p.K381del	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	418					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)				Cagaaaaaggagaagaaggacaa	0.645																																							0											0																																										SO:0001651	inframe_deletion	0			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.1247_1249delAGA	1.37:g.36642314_36642316delAGA	ENSP00000362244:p.Lys418del		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	In_Frame_Del	DEL	pfam_MAP7	p.K418in_frame_del	ENST00000373151.2	37	c.1247_1249	CCDS30673.1	1																																																																																			0	NULL		0.645	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	protein_coding	OTTHUMT00000382095.1	52	123	0	0.00	0	0	AGA	NM_018067	0	0		36642313	1	no_errors	ENST00000373151	ensembl	human	known	74_37	in_frame_del	37	84	15.91	21.50	7	23	DEL	1.000:0.996:1.000	0	-	36642313	AGA	-	36642311	7	5	97	1	0	1	0	1	0	0	0	0	9267	304	11	0	1277	0	MAP7D1	1	36642311	In_Frame_Del	DEL	AGA	TCGA-ZB-A966-01A-11D-A428-09	7057136	36642311	212608310	25	1224											
SLC2A1	6513	genome.wustl.edu	37	chr1	43394959	43394959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgcacccccgccttctcGaagatgctcgtggagtaata	8	10	10	13	3	1	1	0	0	1	1	3	3	1	2	3	1	3	4	3	1	3	3	rs140825318		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:43394959G>A	ENST00000426263.3	-	7	1072	c.894C>T	c.(892-894)ttC>ttT	p.F298F	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	298					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCGCCTTCTCGAAGATGCTCG	0.567													G|||	1	0.000199681	8e-04	0	5008	,	,		16383	0		0	False		,,,				2504	0						0.9998,0.0001997											0								G		11,4395	16.8+/-37.8	0,11,2192	45	42	43		894	-0.6	1	1	dbSNP_134	43	0,8600		0,0,4300	no	coding-synonymous	SLC2A1	NM_006516.2		0,11,6492	AA,AG,GG		0.0,0.2497,0.0846		298/493	43394959	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	0			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.894C>T	1.37:g.43394959G>A			A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt	p.F298	ENST00000426263.3	37	c.894	CCDS477.1	1																																																																																			0	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.567	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	protein_coding	OTTHUMT00000020358.2	38	128	0	0.77	0	1	G	NM_006516	rs140825318	G->A		43394959	-1	no_errors	ENST00000426263	ensembl	human	known	74_37	silent	23	74	28.12	40.80	9	51	SNP	0.996	A	A	43394959	G	A	43394959	2	1	97	1	0	0	0	0	0	0	0	1	14538	1049	37	2		2	SLC2A1	1	43394959	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	6752648	43394959	205855662	26	1225											
FAM183A	440585	genome.wustl.edu	37	chr1	43621891	43621891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctagatcaacccagaacgCcatgaccgcaggctgaatca	13	7	8	13	2	3	4	2	2	1	2	3	4	3	4	3	1	2	2	3	1	4	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:43621891C>T	ENST00000335282.4	+	4	312	c.312C>T	c.(310-312)cgC>cgT	p.R104R	FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000410048.1_Silent_p.R76R	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	104										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						ACCCAGAACGCCATGACCGCA	0.507																																							0											0													135	132	133					1																	43621891		1994	4184	6178	SO:0001819	synonymous_variant	0			AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.312C>T	1.37:g.43621891C>T			B7ZBL8	Silent	SNP	NULL	p.R76	ENST00000335282.4	37	c.228	CCDS44126.1	1																																																																																			0	NULL		0.507	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM183A	protein_coding	OTTHUMT00000019024.3	42	153	0	0.00	0	0	C	NM_001101376	0	0		43621891	1	no_errors	ENST00000410048	ensembl	human	putative	74_37	silent	24	96	20	31.43	6	44	SNP	0	T	T	43621891	C	T	43621891	2	4	97	1	0	0	0	0	0	0	0	1	5510	726	26	3		3	FAM183A	1	43621891	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	226932	43621891	205628730	27	1226											
ZFYVE9	9372	genome.wustl.edu	37	chr1	52761600	52761600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actattcagtgtcagatttcGgaagccattgtttggagaga	11	13	11	6	1	2	2	2	0	0	2	3	5	2	4	1	2	1	1	1	2	2	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:52761600G>A	ENST00000371591.1	+	11	3415	c.3284G>A	c.(3283-3285)cGg>cAg	p.R1095Q	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R1036Q|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.R1095Q|ZFYVE9_ENST00000469134.1_3'UTR	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1095					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						GTCAGATTTCGGAAGCCATTG	0.368																																							0											0													170	156	161					1																	52761600		2203	4300	6503	SO:0001583	missense	0			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.3284G>A	1.37:g.52761600G>A	ENSP00000360647:p.Arg1095Gln		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.R1095Q	ENST00000371591.1	37	c.3284	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.455383	0.96223	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.68181	-0.17;-0.31;-0.31	4.69	4.69	0.59074	Domain of unknown function DUF3480 (1);	0.000000	0.64402	D	0.000002	D	0.83912	0.5357	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.86757	0.1964	10	0.87932	D	0	.	18.2263	0.89918	0.0:0.0:1.0:0.0	.	1036;1095	O95405-2;O95405	.;ZFYV9_HUMAN	Q	1036;1095;1095	ENSP00000349737:R1036Q;ENSP00000287727:R1095Q;ENSP00000360647:R1095Q	ENSP00000287727:R1095Q	R	+	2	0	ZFYVE9	52534188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.607000	0.88179	0.585000	0.79938	CGG	0	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.368	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	protein_coding	OTTHUMT00000022083.1	125	165	0.79	0.00	1	0	G	NM_007324	0	0		52761600	1	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	81	122	26.36	34.05	29	63	SNP	1	A	A	52761600	G	A	52761600	3	1	97	1	0	0	0	0	1	0	0	0	17668	1116	39	2	3333	2	ZFYVE9	1	52761600	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	9139709	52761600	196489021	28	1227											
CC2D1B	200014	genome.wustl.edu	37	chr1	52830227	52830227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggctaagttccatacctgCttggcagcggccaccccttg	8	9	10	14	1	0	0	0	0	0	0	1	0	1	0	5	3	3	4	5	3	3	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:52830227C>A	ENST00000371586.2	-	2	204	c.66G>T	c.(64-66)aaG>aaT	p.K22N	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.K22N	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	22						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)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TCCATACCTGCTTGGCAGCGG	0.557																																							0											0													44	38	40					1																	52830227		2203	4300	6503	SO:0001583	missense	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.66G>T	1.37:g.52830227C>A	ENSP00000360642:p.Lys22Asn		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.K22N	ENST00000371586.2	37	c.66	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139049	0.56936	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371575	T;T	0.24723	1.84;1.84	4.9	2.99	0.34606	.	0.116963	0.56097	D	0.000030	T	0.30135	0.0755	M	0.63843	1.955	0.80722	D	1	P	0.52577	0.954	P	0.46452	0.517	T	0.12967	-1.0527	10	0.72032	D	0.01	-22.7813	9.8132	0.40835	0.0:0.7771:0.0:0.2229	.	22	Q5T0F9	C2D1B_HUMAN	N	22	ENSP00000360642:K22N;ENSP00000284376:K22N	ENSP00000284376:K22N	K	-	3	2	CC2D1B	52602815	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.372000	0.20467	1.297000	0.44761	0.591000	0.81541	AAG	0	NULL		0.557	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	protein_coding	OTTHUMT00000022189.1	55	146	0	0.00	0	0	C	NM_032449	0	0		52830227	-1	no_errors	ENST00000371586	ensembl	human	known	74_37	missense	47	112	14.55	36.00	8	63	SNP	1	A	A	52830227	C	A	52830227	3	1	97	1	0	0	0	0	1	0	0	0	2727	796	28	5	2602	5	CC2D1B	1	52830227	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	68627	52830227	196420394	29	1228											
ECHDC2	55268	genome.wustl.edu	37	chr1	53373561	53373561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcattcatcaggccccGgagtcgctggacaaacaccc	10	7	10	14	2	3	0	3	0	0	0	4	3	3	2	3	3	1	1	3	3	1	1	rs200827816		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:53373561G>A	ENST00000371522.4	-	4	436	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	ECHDC2_ENST00000536120.1_Missense_Mutation_p.R69W|ECHDC2_ENST00000541281.1_Missense_Mutation_p.R69W|ECHDC2_ENST00000358358.5_Missense_Mutation_p.R115W	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	115					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						ATCAGGCCCCGGAGTCGCTGG	0.617																																							0											0													105	97	99					1																	53373561		2203	4300	6503	SO:0001583	missense	0			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.343C>T	1.37:g.53373561G>A	ENSP00000360577:p.Arg115Trp		D3DQ36|Q9NV38	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.R115W	ENST00000371522.4	37	c.343	CCDS55600.1	1	.	.	.	.	.	.	.	.	.	.	g	15.96	2.986722	0.53934	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988;ENST00000541281	T;T;T;T;T	0.77358	-0.31;-1.09;-0.31;-1.09;-0.31	5.19	5.19	0.71726	Crotonase, core (1);	0.129710	0.52532	D	0.000080	D	0.89107	0.6621	M	0.90814	3.15	0.48571	D	0.999671	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.97110	1.0;0.998;0.885	D	0.90348	0.4364	10	0.66056	D	0.02	.	11.6158	0.51090	0.0:0.0:0.7157:0.2842	.	69;115;115	B4DSN9;Q86YB7;Q86YB7-2	.;ECHD2_HUMAN;.	W	115;115;69;115;69	ENSP00000360577:R115W;ENSP00000351125:R115W;ENSP00000439264:R69W;ENSP00000441962:R115W;ENSP00000445358:R69W	ENSP00000351125:R115W	R	-	1	2	ECHDC2	53146149	0.997000	0.39634	1.000000	0.80357	0.434000	0.31775	1.388000	0.34442	2.582000	0.87167	0.550000	0.68814	CGG	0	pfam_Crotonase_core_superfam		0.617	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	protein_coding	OTTHUMT00000024712.3	104	160	0.94	0.00	1	0	G	NM_018281	rs200827816	G->A		53373561	-1	no_errors	ENST00000371522	ensembl	human	known	74_37	missense	63	144	35.05	28.37	34	59	SNP	0.999	A	A	53373561	G	A	53373561	3	1	97	1	0	0	0	0	1	0	0	0	4894	1115	39	2	466	2	ECHDC2	1	53373561	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	543334	53373561	195877060	30	1229											
DNAJC6	9829	genome.wustl.edu	37	chr1	65860702	65860702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaacaagaagtccttcGcccacagtacatggtaagga	14	6	9	12	1	0	1	0	0	0	1	2	2	1	2	3	2	3	2	3	2	5	3	rs185245369	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:65860702G>A	ENST00000395325.3	+	13	2011	c.1854G>A	c.(1852-1854)tcG>tcA	p.S618S	DNAJC6_ENST00000263441.7_Silent_p.S605S|DNAJC6_ENST00000371069.4_Silent_p.S675S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	618	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						GAAGTCCTTCGCCCACAGTAC	0.433													G|||	2	0.000399361	0	0	5008	,	,		19321	0.002		0	False		,,,				2504	0						0.9996,0.0003994											0								G		0,4406		0,0,2203	144	151	149		1854	-3.4	1	1		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAJC6	NM_014787.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		618/914	65860702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1854G>A	1.37:g.65860702G>A			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.S675	ENST00000395325.3	37	c.2025	CCDS30739.1	1																																																																																			0	NULL		0.433	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	protein_coding	OTTHUMT00000025134.1	44	202	0	0.00	0	0	G		rs185245369	G->A		65860702	1	no_errors	ENST00000371069	ensembl	human	known	74_37	silent	22	164	31.25	33.06	10	81	SNP	0.994	A	A	65860702	G	A	65860702	2	1	97	1	0	0	0	0	0	0	0	1	4653	1074	38	1		1	DNAJC6	1	65860702	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	12487141	65860702	183389919	31	1230											
LPHN2	23266	genome.wustl.edu	37	chr1	82456236	82456236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgcttttgagaaaatgAtcatttcagaattagtgcac	14	14	7	6	0	2	3	2	2	0	2	2	4	2	3	0	0	3	2	0	0	5	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:82456236A>G	ENST00000370728.1	+	25	4432	c.3787A>G	c.(3787-3789)Atc>Gtc	p.I1263V	LPHN2_ENST00000370721.1_Missense_Mutation_p.I1188V|LPHN2_ENST00000271029.4_Missense_Mutation_p.I1235V|LPHN2_ENST00000335786.5_Missense_Mutation_p.I1220V|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.I1278V|LPHN2_ENST00000370727.1_Missense_Mutation_p.I1235V|LPHN2_ENST00000394879.1_Missense_Mutation_p.I1265V|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.I1265V|LPHN2_ENST00000370730.1_Missense_Mutation_p.I1220V|LPHN2_ENST00000319517.6_Missense_Mutation_p.I1207V|LPHN2_ENST00000370717.2_Missense_Mutation_p.I1278V|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.I1207V			O95490	LPHN2_HUMAN	latrophilin 2	1263					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)		TGAGAAAATGATCATTTCAGA	0.458																																							0											0													120	109	113					1																	82456236		2203	4300	6503	SO:0001583	missense	0			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.3787A>G	1.37:g.82456236A>G	ENSP00000359763:p.Ile1263Val		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.I1278V	ENST00000370728.1	37	c.3832		1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	13.79|13.79|13.79	2.341272|2.341272|2.341272	0.41498|0.41498|0.41498	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	.|T;T;D;D;T;T;D;D;T;T;D;D|.	.|0.84516|.	.|-1.41;-1.42;-1.86;-1.81;-1.35;-1.29;-1.76;-1.76;-1.35;-1.29;-1.81;-1.86|.	5.78|5.78|5.78	5.78|5.78|5.78	0.91487|0.91487|0.91487	.|.|.	.|0.058498|.	.|0.64402|.	.|D|.	.|0.000003|.	T|T|.	0.70219|0.70219|.	0.3199|0.3199|.	M|M|M	0.77313|0.77313|0.77313	2.365|2.365|2.365	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|D;B|.	.|0.71674|.	.|0.998;0.232|.	.|D;B|.	.|0.87578|.	.|0.998;0.084|.	T|T|.	0.72207|0.72207|.	-0.4360|-0.4360|.	5|10|.	.|0.42905|.	.|T|.	.|0.14|.	.|.|.	16.1146|16.1146|16.1146	0.81295|0.81295|0.81295	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|1207;187|.	.|O95490-2;B3KVU1|.	.|.;.|.	G|V|W	274|1188;1263;1220;1235;1278;1265;1207;1207;1278;1265;1235;1220|1154	.|ENSP00000359756:I1188V;ENSP00000359763:I1263V;ENSP00000359765:I1220V;ENSP00000359762:I1235V;ENSP00000359760:I1278V;ENSP00000359758:I1265V;ENSP00000353006:I1207V;ENSP00000322270:I1207V;ENSP00000359752:I1278V;ENSP00000378344:I1265V;ENSP00000271029:I1235V;ENSP00000337306:I1220V|.	.|ENSP00000271029:I1235V|.	D|I|X	+|+|+	2|1|3	0|0|0	LPHN2|LPHN2|LPHN2	82228824|82228824|82228824	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.394000|0.394000|0.394000	0.30568|0.30568|0.30568	8.962000|8.962000|8.962000	0.93254|0.93254|0.93254	2.200000|2.200000|2.200000	0.70718|0.70718|0.70718	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	GAT|ATC|TGA	0	pfam_GPCR_2_latrophilin_rcpt_C		0.458	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	protein_coding	OTTHUMT00000027188.1	42	138	0	0.00	0	0	A	NM_012302	0	0		82456236	1	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	27	93	28.95	30.08	11	40	SNP	1	G	G	82456236	A	G	82456236	3	3	97	1	0	0	0	0	1	0	0	0	8916	333	12	3	3693	3	LPHN2	1	82456236	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	16595534	82456236	166794385	32	1231											
GTF2B	2959	genome.wustl.edu	37	chr1	89318925	89318925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagtttgtccactggggTgtcaaatttgaagtctgtag	8	15	13	5	0	2	1	1	1	1	0	3	1	3	1	1	3	0	3	1	3	4	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:89318925T>C	ENST00000370500.5	-	7	1040	c.922A>G	c.(922-924)Acc>Gcc	p.T308A		NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	308					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)		TCCACTGGGGTGTCAAATTTG	0.413																																							0											0													169	171	170					1																	89318925		2203	4300	6503	SO:0001583	missense	0			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.922A>G	1.37:g.89318925T>C	ENSP00000359531:p.Thr308Ala		A8K1A7|Q5JS30	Missense_Mutation	SNP	pfam_TFIIB_cyclin,pfam_Znf_TFIIB,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB	p.T308A	ENST00000370500.5	37	c.922	CCDS715.1	1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207404	0.58343	.	.	ENSG00000137947	ENST00000370500	T	0.41758	0.99	5.99	5.99	0.97316	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.41710	1.295	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.10965	-1.0607	10	0.10111	T	0.7	-22.7199	16.4943	0.84223	0.0:0.0:0.0:1.0	.	308	Q00403	TF2B_HUMAN	A	308	ENSP00000359531:T308A	ENSP00000359531:T308A	T	-	1	0	GTF2B	89091513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.291000	0.77112	0.533000	0.62120	ACC	0	superfamily_Cyclin-like		0.413	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2B	protein_coding	OTTHUMT00000029279.1	89	276	0	0.00	0	0	T	NM_001514	0	0		89318925	-1	no_errors	ENST00000370500	ensembl	human	known	74_37	missense	60	228	31.03	29.75	27	97	SNP	1	C	C	89318925	T	C	89318925	3	2	97	1	0	0	0	0	1	0	0	0	6855	1696	59	3	32	3	GTF2B	1	89318925	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	6862689	89318925	159931696	33	1232											
CEPT1	10390	genome.wustl.edu	37	chr1	111703836	111703836	+	Frame_Shift_Del	DEL	T	T	-																															ggacaaaccctgattggatgTttttttgttgttttgcgggg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:111703836delT	ENST00000545121.1	+	4	755	c.547delT	c.(547-549)tttfs	p.F184fs	CEPT1_ENST00000357172.4_Frame_Shift_Del_p.F184fs	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	184					CDP-choline pathway (GO:0006657)|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)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.C185fs*26(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TGATTGGATGTTTTTTTGTTG	0.383																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											234	234	234					1																	111703836		2203	4300	6503	SO:0001589	frameshift_variant	0			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.547delT	1.37:g.111703836delT	ENSP00000441980:p.Phe184fs		Q69YJ9|Q9P0Y8	Frame_Shift_Del	DEL	pfam_CDP-OH_P_trans,pirsf_CHOPT	p.C185fs	ENST00000545121.1	37	c.547	CCDS830.1	1																																																																																			0	pfam_CDP-OH_P_trans,pirsf_CHOPT		0.383	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	protein_coding	OTTHUMT00000034462.2	88	191	0	0.00	0	0	T	NM_006090	0	0		111703836	1	no_errors	ENST00000357172	ensembl	human	known	74_37	frame_shift_del	48	172	30.43	27.12	21	64	DEL	1	0	-	111703836	T	-	111703836	7	5	97	1	0	1	0	1	0	0	0	0	3264	1725	60	0	557	0	CEPT1	1	111703836	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	22384911	111703836	137546785	34	1233											
SLC16A1	6566	genome.wustl.edu	37	chr1	113471876	113471876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaattaccactgcccagcCccagcctccatctggggggg	7	7	10	17	0	1	0	0	0	1	0	3	0	3	0	7	3	4	0	7	3	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:113471876C>A	ENST00000538576.1	-	2	886	c.55G>T	c.(55-57)Ggc>Tgc	p.G19C	SLC16A1_ENST00000433570.4_Missense_Mutation_p.G19C|SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Missense_Mutation_p.G19C	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	19					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	ACTGCCCAGCCCCAGCCTCCA	0.433																																							0											0													45	46	45					1																	113471876		2203	4300	6503	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.55G>T	1.37:g.113471876C>A	ENSP00000441065:p.Gly19Cys		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.G19C	ENST00000538576.1	37	c.55	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.208811	0.95069	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	5.97	5.97	0.96955	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83834	0.5340	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	0.88206	0.2887	10	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	19;19	Q49A45;P53985	.;MOT1_HUMAN	C	19	ENSP00000358640:G19C;ENSP00000441065:G19C;ENSP00000416167:G19C;ENSP00000445061:G19C;ENSP00000399104:G19C;ENSP00000397106:G19C	ENSP00000358640:G19C	G	-	1	0	SLC16A1	113273399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.835000	0.97688	0.591000	0.81541	GGC	0	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.433	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	protein_coding	OTTHUMT00000033539.1	58	225	0	0.44	0	1	C	NM_003051	0	0		113471876	-1	no_errors	ENST00000369626	ensembl	human	known	74_37	missense	24	173	47.83	25.96	22	61	SNP	1	A	A	113471876	C	A	113471876	3	1	97	1	0	0	0	0	1	0	0	0	14402	623	22	5	1463	5	SLC16A1	1	113471876	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1768040	113471876	135778745	35	1234											
WDR3	10885	genome.wustl.edu	37	chr1	118483747	118483747	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttgcttcttctgtagCgaatcctttcatgcagaaaa	9	15	7	10	1	4	1	1	0	3	1	5	2	5	1	1	0	4	4	1	0	4	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:118483747C>T	ENST00000349139.5	+	8	837	c.790C>T	c.(790-792)Cga>Tga	p.R264*	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)		TCTTCTGTAGCGAATCCTTTC	0.408																																							0											0													94	89	91					1																	118483747		2203	4300	6503	SO:0001630	splice_region_variant	0			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.790-1C>T	1.37:g.118483747C>T				Nonsense_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.R264*	ENST00000349139.5	37	c.790	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.110961	0.94292	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.4492	16.1254	0.81392	0.0:0.8665:0.1335:0.0	.	.	.	.	X	264	.	.	R	+	1	2	WDR3	118285270	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.007000	0.49536	2.673000	0.90976	0.655000	0.94253	CGA	0	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.408	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	protein_coding	OTTHUMT00000033720.2	51	185	0	0.00	0	0	C	NM_006784	0	0	Nonsense_Mutation	118483747	1	no_errors	ENST00000349139	ensembl	human	known	74_37	nonsense	30	137	23.08	33.17	9	68	SNP	1	T	T	118483747	C	T	118483747	5	4	97	1	0	0	0	0	0	0	1	0	17282	782	27	1	816	1	WDR3	1	118483747	Splice_Site	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	5011871	118483747	130766874	36	1235											
PHGDH	26227	genome.wustl.edu	37	chr1	120263834	120263834	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctctgccaccaaggtgacCgctgatgtcatcaacgcagc	9	7	10	15	3	3	2	2	2	1	0	3	2	3	2	3	1	3	3	3	1	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:120263834C>T	ENST00000369409.4	+	2	316	c.180C>T	c.(178-180)acC>acT	p.T60T	PHGDH_ENST00000369407.3_Silent_p.T26T	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	60					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)	p.T60T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CCAAGGTGACCGCTGATGTCA	0.532																																							0											1	Substitution - coding silent(1)	lung(1)											159	142	147					1																	120263834		2203	4300	6503	SO:0001819	synonymous_variant	0			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.180C>T	1.37:g.120263834C>T			B2RD08|Q5SZU3|Q9BQ01	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH	p.T60	ENST00000369409.4	37	c.180	CCDS904.1	1																																																																																			0	pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH		0.532	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHGDH	protein_coding	OTTHUMT00000033464.1	30	150	0	0.00	0	0	C	NM_006623	0	0		120263834	1	no_errors	ENST00000369409	ensembl	human	known	74_37	silent	21	106	21.43	24.82	6	35	SNP	0.038	T	T	120263834	C	T	120263834	2	4	97	1	0	0	0	0	0	0	0	1	11841	639	23	2		2	PHGDH	1	120263834	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1780087	120263834	128986787	37	1236											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144874778	144874778	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcatcagacaggaaagaGgtgctgctgggagagcggtg	11	7	17	6	1	2	3	2	0	0	3	2	5	2	4	0	4	3	3	0	4	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:144874778G>T	ENST00000369354.3	-	30	5019	c.4830C>A	c.(4828-4830)acC>acA	p.T1610T	PDE4DIP_ENST00000530740.1_Silent_p.T1746T|RP4-791M13.5_ENST00000531288.1_RNA|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.T1610T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.T1566T|PDE4DIP_ENST00000369359.4_Silent_p.T1746T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1610	NBPF. {ECO:0000255|PROSITE- ProRule:PRU00647}.			T -> P (in Ref. 4; CAH18128). {ECO:0000305}.	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)		ACAGGAAAGAGGTGCTGCTGG	0.537			T	PDGFRB	MPD																																		0		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													266	252	257					1																	144874778		2203	4296	6499	SO:0001819	synonymous_variant	0			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.4830C>A	1.37:g.144874778G>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.T1610	ENST00000369354.3	37	c.4830	CCDS30824.1	1																																																																																			0	NULL		0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	protein_coding	OTTHUMT00000038858.2	93	90	0	0.00	0	0	G	NM_022359	0	0		144874778	-1	no_errors	ENST00000369356	ensembl	human	known	74_37	silent	62	131	12.68	12.08	9	18	SNP	0.989	T	T	144874778	G	T	144874778	2	4	97	1	0	0	0	0	0	0	0	1	11643	987	35	5		5	PDE4DIP	1	144874778	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	24610944	144874778	104375843	38	1237											
ANKRD34A	284615	genome.wustl.edu	37	chr1	145473413	145473413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcttctggagggaggcGcctacgtgaatgagggtgat	7	11	17	6	2	1	3	0	3	1	0	1	5	1	5	1	4	2	2	1	4	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:145473413G>A	ENST00000323397.4	+	4	1378	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	29						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)					GGAGGGAGGCGCCTACGTGAA	0.647																																							0											0													64	66	66					1																	145473413		2203	4300	6503	SO:0001583	missense	0			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.85G>A	1.37:g.145473413G>A	ENSP00000314103:p.Ala29Thr		B3KSU3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A29T	ENST00000323397.4	37	c.85	CCDS30829.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.066071	0.93898	.	.	ENSG00000181039	ENST00000323397	T	0.41065	1.01	5.03	5.03	0.67393	Ankyrin repeat-containing domain (3);	0.057327	0.64402	N	0.000001	T	0.61009	0.2313	M	0.81682	2.555	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.66114	-0.6004	10	0.87932	D	0	-12.1063	15.8842	0.79232	0.0:0.0:1.0:0.0	.	29	Q69YU3	AN34A_HUMAN	T	29	ENSP00000314103:A29T	ENSP00000314103:A29T	A	+	1	0	ANKRD34A	144184770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.257000	0.95545	2.601000	0.87937	0.491000	0.48974	GCC	0	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.647	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	protein_coding	OTTHUMT00000038512.1	40	129	0	0.00	0	0	G		0	0		145473413	1	no_errors	ENST00000323397	ensembl	human	known	74_37	missense	37	134	21.28	18.18	10	30	SNP	1	A	A	145473413	G	A	145473413	3	1	97	1	0	0	0	0	1	0	0	0	662	1087	38	1	87	1	ANKRD34A	1	145473413	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	598635	145473413	103777208	39	1238											
RBM8A	9939	genome.wustl.edu	37	chr1	145509002	145509002	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatttgatgggacagccCatcagcgttgactggtgttt	8	12	13	8	1	1	2	1	2	0	0	1	4	1	4	1	3	2	2	1	3	0	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:145509002C>A	ENST00000330165.8	+	5	498	c.429C>A	c.(427-429)ccC>ccA	p.P143P	RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RBM8A_ENST00000369307.3_Silent_p.P142P|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	143	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|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)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGACAGCCCATCAGCGTTG	0.483																																							0											0													106	105	106					1																	145509002		2203	4300	6503	SO:0001819	synonymous_variant	0			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"RNA binding motif (RRM) containing"	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.429C>A	1.37:g.145509002C>A			B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Silent	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom,prints_RNA-bd_8	p.P143	ENST00000330165.8	37	c.429	CCDS916.1	1																																																																																			0	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_RNA-bd_8		0.483	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM8A	protein_coding	OTTHUMT00000038503.2	79	95	0	0.00	0	0	C	NM_005105	0	0		145509002	1	no_errors	ENST00000330165	ensembl	human	known	74_37	silent	74	111	16.85	20.71	15	29	SNP	0.42	A	A	145509002	C	A	145509002	2	1	97	1	0	0	0	0	0	0	0	1	13146	581	21	5		5	RBM8A	1	145509002	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	35589	145509002	103741619	40	1239											
PIAS3	10401	genome.wustl.edu	37	chr1	145581435	145581435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctgactgtcccttgtcGtgccctcacctgcgcccacc	3	9	9	20	3	1	1	1	1	0	0	3	1	2	1	6	0	2	0	6	0	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:145581435G>A	ENST00000393045.2	+	9	1106	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	PIAS3_ENST00000369298.1_Missense_Mutation_p.R304H	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	339					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCCTTGTCGTGCCCTCACC	0.517																																							0											0													120	108	112					1																	145581435		2203	4300	6503	SO:0001583	missense	0			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1016G>A	1.37:g.145581435G>A	ENSP00000376765:p.Arg339His		Q9UFI3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.R339H	ENST00000393045.2	37	c.1016	CCDS920.2	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021775	0.93462	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.69435	-0.4;-0.37	5.87	4.96	0.65561	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (2);	0.000000	0.64402	D	0.000014	T	0.71651	0.3365	H	0.98407	4.225	0.80722	D	1	B	0.26195	0.144	B	0.23419	0.046	T	0.78021	-0.2367	10	0.87932	D	0	-11.6666	12.7112	0.57089	0.0795:0.0:0.9205:0.0	.	339	Q9Y6X2	PIAS3_HUMAN	H	339;304	ENSP00000376765:R339H;ENSP00000358304:R304H	ENSP00000358304:R304H	R	+	2	0	PIAS3	144292792	1.000000	0.71417	0.920000	0.36463	0.999000	0.98932	9.860000	0.99555	1.489000	0.48450	0.655000	0.94253	CGT	0	pfam_Znf_MIZ,pfscan_Znf_MIZ		0.517	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	protein_coding	OTTHUMT00000038533.4	32	148	0	0.00	0	0	G	NM_006099	0	0		145581435	1	no_errors	ENST00000393045	ensembl	human	known	74_37	missense	41	147	18	20.54	9	38	SNP	0.997	A	A	145581435	G	A	145581435	3	1	97	1	0	0	0	0	1	0	0	0	11877	1145	40	1	1050	1	PIAS3	1	145581435	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	72433	145581435	103669186	41	1240											
NBPF14	25832	genome.wustl.edu	37	chr1	148004583	148004583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcccatctggaacaccaGgtggagacttgtcaccgtca	10	8	10	13	1	3	1	2	0	1	1	4	4	4	2	3	3	1	0	3	3	1	1	rs587730135		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:148004583G>T	ENST00000369219.1	-	22	2747	c.2731C>A	c.(2731-2733)Ctg>Atg	p.L911M				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	911	NBPF 10. {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)					TGGAACACCAGGTGGAGACTT	0.468																																							0											0													59	88	78					1																	148004583		2126	4259	6385	SO:0001583	missense	0			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.2731C>A	1.37:g.148004583G>T	ENSP00000358221:p.Leu911Met		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.L911M	ENST00000369219.1	37	c.2731		1	.	.	.	.	.	.	.	.	.	.	g	8.999	0.979688	0.18812	.	.	ENSG00000122497	ENST00000369219;ENST00000369368	T	0.07444	3.19	0.377	-0.753	0.11068	DUF1220 (1);	.	.	.	.	T	0.06280	0.0162	L	0.53249	1.67	0.09310	N	1	D;D;D	0.62365	0.982;0.991;0.99	P;P;P	0.57679	0.557;0.77;0.825	T	0.15235	-1.0444	8	0.72032	D	0.01	.	.	.	.	.	259;892;911	F8WEX8;B4DH59;Q5TI25	.;.;NBPFE_HUMAN	M	911;259	ENSP00000358221:L911M	ENSP00000358221:L911M	L	-	1	2	NBPF14	146471207	0.976000	0.34144	0.001000	0.08648	0.020000	0.10135	0.775000	0.26689	-0.560000	0.06102	0.271000	0.19318	CTG	0	NULL		0.468	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	protein_coding		317	0	0	0.00	0	0	G	NM_015383	0	0		148004583	-1	no_errors	ENST00000369219	ensembl	human	known	74_37	missense	268	0	7.9	0.00	23	0	SNP	0.001	T	T	148004583	G	T	148004583	3	4	97	1	0	0	0	0	1	0	0	0	10194	991	35	5	38	5	NBPF14	1	148004583	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2423148	148004583	101246038	42	1241											
ADAMTSL4	54507	genome.wustl.edu	37	chr1	150532263	150532263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctcctgccaagggggaacGcagacacgggaggtccagtg	9	4	16	12	3	0	1	0	0	0	1	2	3	2	3	3	4	2	2	3	4	2	0	rs368789447		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:150532263G>A	ENST00000369038.2	+	16	3171	c.2970G>A	c.(2968-2970)acG>acA	p.T990T	ADAMTSL4_ENST00000369039.5_Silent_p.T1013T|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.T990T			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	990	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			AAGGGGGAACGCAGACACGGG	0.637											OREG0013787	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	,	,		17067	0		0	False		,,,				2504	0						0.9998,0.0001997											0													94	102	99					1																	150532263		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2970G>A	1.37:g.150532263G>A		1733	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	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.T1013	ENST00000369038.2	37	c.3039	CCDS955.1	1																																																																																			0	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.637	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	protein_coding	OTTHUMT00000084395.4	56	86	0	0.00	0	0	G	NM_019032	rs368789447	G->A		150532263	1	no_errors	ENST00000369039	ensembl	human	known	74_37	silent	39	104	35	19.38	21	25	SNP	0.008	A	A	150532263	G	A	150532263	2	1	97	1	0	0	0	0	0	0	0	1	277	1074	38	1		1	ADAMTSL4	1	150532263	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2527680	150532263	98718358	43	1242											
ZNF687	57592	genome.wustl.edu	37	chr1	151261161	151261162	+	Frame_Shift_Del	DEL	TC	TC	-																															ccgggaggcctgtctgcacgTctctcgccgtgtaggataca																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TC	TC	TC	-	TC	TC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:151261161_151261162delTC	ENST00000368879.2	+	3	2371_2372	c.2273_2274delTC	c.(2272-2274)gtcfs	p.V758fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	758					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)			TGTCTGCACGTCTCTCGCCGTG	0.569																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2273_2274delTC	1.37:g.151261165_151261166delTC	ENSP00000357874:p.Val758fs		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R760fs	ENST00000368879.2	37	c.2273_2274		1																																																																																			0	NULL		0.569	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	protein_coding		62	139	0	0.00	0	0	TC	NM_020832	0	0		151261162	1	no_errors	ENST00000324048	ensembl	human	known	74_37	frame_shift_del	47	189	26.56	13.70	17	30	DEL	1.000:1.000	0	-	151261162	TC	-	151261161	7	5	97	1	0	1	0	1	0	0	0	0	18089	1667	58	0	2279	0	ZNF687	1	151261161	Frame_Shift_Del	DEL	TC	TCGA-ZB-A966-01A-11D-A428-09	728898	151261161	97989460	44	1243											
RFX5	5993	genome.wustl.edu	37	chr1	151315023	151315023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtctcccatggtaacCttgaggactgggcagattcc	8	10	10	13	0	1	2	0	1	1	1	3	3	2	3	4	3	1	2	4	3	1	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:151315023C>A	ENST00000290524.4	-	11	1668	c.1490G>T	c.(1489-1491)aGg>aTg	p.R497M	RFX5_ENST00000452513.2_Missense_Mutation_p.R457M|RFX5_ENST00000478564.1_5'Flank|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Missense_Mutation_p.R497M|RFX5_ENST00000368870.2_Missense_Mutation_p.R497M	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	497					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	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)			CCATGGTAACCTTGAGGACTG	0.582																																							0											0													126	137	133					1																	151315023		2203	4300	6503	SO:0001583	missense	0				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1490G>T	1.37:g.151315023C>A	ENSP00000290524:p.Arg497Met		B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.R497M	ENST00000290524.4	37	c.1490	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580898	0.28180	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.42	2.55	0.30701	.	0.789213	0.12391	N	0.472992	T	0.17365	0.0417	M	0.62723	1.935	0.09310	N	1	P;P	0.49447	0.61;0.924	B;B	0.43155	0.219;0.41	T	0.12708	-1.0537	10	0.56958	D	0.05	-0.8128	4.0661	0.09861	0.1552:0.4609:0.3009:0.083	.	457;497	B7Z848;P48382	.;RFX5_HUMAN	M	497;497;497;457;497	ENSP00000290524:R497M;ENSP00000357864:R497M;ENSP00000389130:R497M;ENSP00000398388:R457M;ENSP00000376502:R497M	ENSP00000290524:R497M	R	-	2	0	RFX5	149581647	0.000000	0.05858	0.009000	0.14445	0.493000	0.33554	0.065000	0.14466	0.414000	0.25790	0.491000	0.48974	AGG	0	NULL		0.582	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	protein_coding	OTTHUMT00000034892.6	36	159	0	0.00	0	0	C	NM_000449	0	0		151315023	-1	no_errors	ENST00000290524	ensembl	human	known	74_37	missense	22	189	15.38	16.37	4	37	SNP	0.001	A	A	151315023	C	A	151315023	3	1	97	1	0	0	0	0	1	0	0	0	13266	681	24	5	364	5	RFX5	1	151315023	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	53862	151315023	97935598	45	1244											
FLG	2312	genome.wustl.edu	37	chr1	152275306	152275306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgatctttaccaaacGcacttgctttacagatatca	12	14	6	9	1	2	2	1	1	1	1	2	3	2	3	1	1	4	2	1	1	4	7	rs372573825		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:152275306G>A	ENST00000368799.1	-	3	12091	c.12056C>T	c.(12055-12057)gCg>gTg	p.A4019V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	4019					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)			TTTACCAAACGCACTTGCTTT	0.383									Ichthyosis				G|||	1	0.000199681	0	0.0014	5008	,	,		20890	0		0	False		,,,				2504	0						0.9998,0.0001997											0								G	VAL/ALA	1,4405	4.2+/-10.8	0,1,2202	142	135	138		12056	-3.1	0	1		138	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	4019/4062	152275306	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.12056C>T	1.37:g.152275306G>A	ENSP00000357789:p.Ala4019Val		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.A4019V	ENST00000368799.1	37	c.12056	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	6.127	0.391593	0.11581	2.27E-4	0.0	ENSG00000143631	ENST00000368799	T	0.00864	5.6	3.23	-3.11	0.05299	.	.	.	.	.	T	0.00178	0.0005	N	0.22421	0.69	0.09310	N	1	P	0.43633	0.813	B	0.22152	0.038	T	0.45323	-0.9269	9	0.27082	T	0.32	.	5.199	0.15254	0.0:0.2239:0.1849:0.5912	.	4019	P20930	FILA_HUMAN	V	4019	ENSP00000357789:A4019V	ENSP00000357789:A4019V	A	-	2	0	FLG	150541930	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.819000	0.00750	-0.624000	0.05611	-0.171000	0.13296	GCG	0	NULL		0.383	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	66	244	0	0.00	0	0	G	NM_002016	rs372573825	G->A		152275306	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	33	288	17.5	28.71	7	116	SNP	0	A	A	152275306	G	A	152275306	3	1	97	1	0	0	0	0	1	0	0	0	5922	1087	38	1	133	1	FLG	1	152275306	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	960283	152275306	96975315	46	1245											
FLG	2312	genome.wustl.edu	37	chr1	152285917	152285917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtcccggtccgtccaTgggcagagtcaggctgttca	5	10	14	12	2	2	1	2	0	0	1	5	1	5	1	3	4	1	4	3	4	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:152285917T>C	ENST00000368799.1	-	3	1480	c.1445A>G	c.(1444-1446)cAt>cGt	p.H482R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	482	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)			GGTCCGTCCATGGGCAGAGTC	0.617									Ichthyosis																														0											0													226	216	219					1																	152285917		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1445A>G	1.37:g.152285917T>C	ENSP00000357789:p.His482Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.H482R	ENST00000368799.1	37	c.1445	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	10.34	1.322848	0.23994	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03951	3.75	3.82	1.13	0.20643	.	.	.	.	.	T	0.07548	0.0190	M	0.82923	2.615	0.09310	N	1	D	0.61697	0.99	D	0.79108	0.992	T	0.26224	-1.0109	9	0.14656	T	0.56	.	7.5015	0.27520	0.0:0.0:0.4432:0.5568	.	482	P20930	FILA_HUMAN	R	482;14	ENSP00000357789:H482R	ENSP00000357789:H482R	H	-	2	0	FLG	150552541	0.023000	0.18921	0.010000	0.14722	0.023000	0.10783	0.537000	0.23144	0.611000	0.30052	0.414000	0.27820	CAT	0	NULL		0.617	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	96	61	0	0.00	0	0	T	NM_002016	0	0		152285917	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	70	66	25.53	9.59	24	7	SNP	0.002	C	C	152285917	T	C	152285917	3	2	97	1	0	0	0	0	1	0	0	0	5922	1464	51	3	10744	3	FLG	1	152285917	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	10611	152285917	96964704	47	1246											
LCE3B	353143	genome.wustl.edu	37	chr1	152586488	152586488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcccaccgatgccggCgccagagctccaactcctgt	7	6	11	17	3	0	1	0	0	0	1	3	2	3	1	6	2	3	2	6	2	1	0	rs201393572	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:152586488C>T	ENST00000335633.1	+	1	202	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	68	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CCGATGCCGGCGCCAGAGCTC	0.637													C|||	2	0.000399361	0	0	5008	,	,		7192	0		0.002	False		,,,				2504	0						0.9996,0.0003994											0													59	55	57					1																	152586488		1821	2707	4528	SO:0001583	missense	0				CCDS1016.1	1q21.3	2008-02-05			ENSG00000187238	ENSG00000187238		"Late cornified envelopes"	29462	protein-coding gene	gene with protein product		612614				11698679	Standard	NM_178433		Approved	LEP14	uc010pds.2	Q5TA77	OTTHUMG00000012395	ENST00000335633.1:c.202C>T	1.37:g.152586488C>T	ENSP00000335358:p.Arg68Cys			Missense_Mutation	SNP	NULL	p.R68C	ENST00000335633.1	37	c.202	CCDS1016.1	1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	C	5.142	0.211891	0.09757	.	.	ENSG00000187238	ENST00000335633	T	0.04083	3.71	3.29	3.29	0.37713	.	.	.	.	.	T	0.05090	0.0136	.	.	.	0.19575	N	0.999961	D	0.71674	0.998	P	0.53954	0.738	T	0.23868	-1.0176	8	0.72032	D	0.01	.	9.9152	0.41430	0.0:1.0:0.0:0.0	.	68	Q5TA77	LCE3B_HUMAN	C	68	ENSP00000335358:R68C	ENSP00000335358:R68C	R	+	1	0	LCE3B	150853112	0.001000	0.12720	0.461000	0.27105	0.432000	0.31715	1.111000	0.31159	1.647000	0.50633	0.462000	0.41574	CGC	0	NULL		0.637	LCE3B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LCE3B	protein_coding	OTTHUMT00000034515.2	33	11	0	0.00	0	0	C	NM_178433	rs201393572	C->T		152586488	1	no_errors	ENST00000335633	ensembl	human	novel	74_37	missense	7	2	72	75.00	18	6	SNP	0.115	T	T	152586488	C	T	152586488	3	4	97	1	0	0	0	0	1	0	0	0	8670	768	27	1	204	1	LCE3B	1	152586488	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	300571	152586488	96664133	48	1247											
KPRP	448834	genome.wustl.edu	37	chr1	152732859	152732859	+	Frame_Shift_Del	DEL	C	C	-																															cctcggcggctgcagcttttCccccgcagctgttccccacc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:152732859delC	ENST00000606109.1	+	1	823	c.795delC	c.(793-795)ttcfs	p.F265fs	KPRP_ENST00000368773.1_Frame_Shift_Del_p.F265fs			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	265	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)			TGCAGCTTTTCCCCCGCAGCT	0.617																																							0											0													35	42	39					1																	152732859		2203	4300	6503	SO:0001589	frameshift_variant	0			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.795delC	1.37:g.152732859delC	ENSP00000475216:p.Phe265fs			Frame_Shift_Del	DEL	NULL	p.R267fs	ENST00000606109.1	37	c.795	CCDS30862.1	1																																																																																			0	NULL		0.617	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	protein_coding	OTTHUMT00000034522.2	49	106	0	0.00	0	0	C	NM_001025231	0	0		152732859	1	no_errors	ENST00000368773	ensembl	human	known	74_37	frame_shift_del	64	137	23.81	12.18	20	19	DEL	0	0	-	152732859	C	-	152732859	7	5	97	1	0	1	0	1	0	0	0	0	8436	854	30	0	797	0	KPRP	1	152732859	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	146371	152732859	96517762	49	1248											
THBS3	7059	genome.wustl.edu	37	chr1	155177643	155177643	+	Frame_Shift_Del	DEL	C	C	-																															aaggaggagaagagccagggCcccccgaagttcctgcgtct																								rs202082439		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:155177643delC	ENST00000368378.3	-	1	45	c.25delG	c.(25-27)gccfs	p.A9fs	THBS3_ENST00000486260.1_Intron|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_5'UTR|MTX1_ENST00000368376.3_5'Flank|THBS3_ENST00000457183.2_Frame_Shift_Del_p.A9fs|RP11-263K19.4_ENST00000422665.1_RNA|MTX1_ENST00000609421.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|MTX1_ENST00000316721.4_5'Flank	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	9					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)			AGAGCCAGGGCCCCCCGAAGT	0.607																																							0											0													85	84	84					1																	155177643		2203	4300	6503	SO:0001589	frameshift_variant	0			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.25delG	1.37:g.155177643delC	ENSP00000357362:p.Ala9fs		B1AVR8|B4DQ20|Q8WV34	Frame_Shift_Del	DEL	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.A9fs	ENST00000368378.3	37	c.25	CCDS1099.1	1																																																																																			0	NULL		0.607	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	protein_coding	OTTHUMT00000086856.1	56	106	0	0.00	0	0	C	NM_007112	0	0		155177643	-1	no_errors	ENST00000368378	ensembl	human	known	74_37	frame_shift_del	30	107	14.29	19.55	5	26	DEL	1	0	-	155177643	C	-	155177643	7	5	97	1	0	1	0	1	0	0	0	0	15852	739	26	0	2937	0	THBS3	1	155177643	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	2444784	155177643	94072978	50	1249											
ASH1L	55870	genome.wustl.edu	37	chr1	155451108	155451108	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaggctgcttttcatgcTttgaggtttcataagatccc	8	14	10	9	0	2	2	2	1	0	1	3	3	3	3	1	3	2	4	1	3	1	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:155451108T>C	ENST00000368346.3	-	3	2192	c.1553A>G	c.(1552-1554)aAg>aGg	p.K518R	ASH1L_ENST00000392403.3_Missense_Mutation_p.K518R			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	518					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)			CTTTTCATGCTTTGAGGTTTC	0.393																																							0											0													100	102	101					1																	155451108		2203	4300	6503	SO:0001583	missense	0			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.1553A>G	1.37:g.155451108T>C	ENSP00000357330:p.Lys518Arg		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.K518R	ENST00000368346.3	37	c.1553		1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703887	0.68501	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90788	-2.73;-2.72	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000009	D	0.83303	0.5225	N	0.14661	0.345	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.54889	0.584;0.763	D	0.86254	0.1651	10	0.52906	T	0.07	.	10.2556	0.43394	0.1477:0.0:0.0:0.8523	.	518;518	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	R	518	ENSP00000357330:K518R;ENSP00000376204:K518R	ENSP00000357330:K518R	K	-	2	0	ASH1L	153717732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.574000	0.53863	2.261000	0.74972	0.533000	0.62120	AAG	0	NULL		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	protein_coding	OTTHUMT00000039400.1	67	238	1.47	0.83	1	2	T	NM_018489	0	0		155451108	-1	no_errors	ENST00000368346	ensembl	human	known	74_37	missense	62	293	21.52	22.07	17	83	SNP	1	C	C	155451108	T	C	155451108	3	2	97	1	0	0	0	0	1	0	0	0	1041	1609	56	4	7445	4	ASH1L	1	155451108	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	273465	155451108	93799513	51	1250											
SEMA4A	64218	genome.wustl.edu	37	chr1	156142758	156142758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggagacagcccagggcCttgatgggcacagccatctt	9	7	13	12	0	1	2	0	1	1	1	1	3	1	2	3	3	2	1	3	3	0	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:156142758C>A	ENST00000368285.3	+	11	1543	c.1276C>A	c.(1276-1278)Ctt>Att	p.L426I	SEMA4A_ENST00000368284.1_Missense_Mutation_p.L294I|SEMA4A_ENST00000355014.2_Missense_Mutation_p.L426I|SEMA4A_ENST00000368286.2_Missense_Mutation_p.L294I|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.L426I	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	426	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGCCCAGGGCCTTGATGGGCA	0.572																																							0											0													77	66	69					1																	156142758		2203	4300	6503	SO:0001583	missense	0			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1276C>A	1.37:g.156142758C>A	ENSP00000357268:p.Leu426Ile		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	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.L426I	ENST00000368285.3	37	c.1276	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927171	0.34002	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	5.23	-5.0	0.03001	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.642672	0.14506	N	0.315411	T	0.02888	0.0086	L	0.35723	1.085	0.09310	N	1	B;B	0.18863	0.031;0.031	B;B	0.30316	0.078;0.114	T	0.47302	-0.9128	10	0.49607	T	0.09	.	9.7556	0.40502	0.2496:0.3688:0.3817:0.0	.	294;426	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	I	426;426;294;388;388;294;426	ENSP00000347117:L426I;ENSP00000357268:L426I;ENSP00000357267:L294I;ENSP00000357269:L294I;ENSP00000357265:L426I	ENSP00000347117:L426I	L	+	1	0	SEMA4A	154409382	0.000000	0.05858	0.008000	0.14137	0.780000	0.44128	-1.519000	0.02243	-0.482000	0.06782	0.561000	0.74099	CTT	0	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.572	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	protein_coding	OTTHUMT00000039484.2	45	165	0	0.00	0	0	C	NM_022367	0	0		156142758	1	no_errors	ENST00000355014	ensembl	human	known	74_37	missense	46	166	9.8	26.22	5	59	SNP	0	A	A	156142758	C	A	156142758	3	1	97	1	0	0	0	0	1	0	0	0	14031	681	24	5	1314	5	SEMA4A	1	156142758	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	691650	156142758	93107863	52	1251											
VHLL	391104	genome.wustl.edu	37	chr1	156268898	156268898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcggcgcccaactctTcctggcagtactcttctggg	4	11	9	17	2	3	0	0	0	3	0	6	0	5	0	4	3	2	2	4	3	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:156268898T>C	ENST00000339922.3	-	1	530	c.83A>G	c.(82-84)gAa>gGa	p.E28G		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	28										endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					GCCCAACTCTTCCTGGCAGTA	0.632																																							0											0													47	50	49					1																	156268898		2203	4300	6503	SO:0001583	missense	0					1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"VHL pseudogene"	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.83A>G	1.37:g.156268898T>C	ENSP00000464258:p.Glu28Gly		A1L4M4	Missense_Mutation	SNP	pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom	p.E28G	ENST00000339922.3	37	c.83		1																																																																																			0	NULL		0.632	VHLL-001	KNOWN	basic|appris_principal	protein_coding	VHLL	protein_coding	OTTHUMT00000060590.3	62	87	1.59	0.00	1	0	T	NM_001004319	0	0		156268898	-1	no_errors	ENST00000339922	ensembl	human	known	74_37	missense	61	69	19.74	30.30	15	30	SNP	0.001	C	C	156268898	T	C	156268898	3	2	97	1	0	0	0	0	1	0	0	0	17160	1783	62	3	340	3	VHLL	1	156268898	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	126140	156268898	92981723	53	1252											
RHBG	57127	genome.wustl.edu	37	chr1	156351150	156351150	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctagggaccatcttccTgtggatcttctggcctagct	6	13	9	13	0	4	0	0	0	4	0	5	2	5	2	4	3	1	1	4	3	2	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:156351150T>C	ENST00000368249.1	+	5	724	c.686T>C	c.(685-687)cTg>cCg	p.L229P	RHBG_ENST00000537040.1_Missense_Mutation_p.L67P|RHBG_ENST00000400992.2_Missense_Mutation_p.L197P|RHBG_ENST00000368246.2_Missense_Mutation_p.L229P|RHBG_ENST00000255013.3_Missense_Mutation_p.L160P|RHBG_ENST00000451864.2_Missense_Mutation_p.L197P	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	229					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)					ACCATCTTCCTGTGGATCTTC	0.557																																							0											0													53	55	54					1																	156351150		2085	4217	6302	SO:0001583	missense	0			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.686T>C	1.37:g.156351150T>C	ENSP00000357232:p.Leu229Pro		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.L229P	ENST00000368249.1	37	c.686		1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483197	0.84747	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000537040;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.2	5.2	0.72013	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.97110	0.977;1.0;0.961;0.999	T	0.80437	-0.1383	10	0.87932	D	0	-18.0245	14.04	0.64669	0.0:0.0:0.0:1.0	.	229;67;197;266	Q9H310;F5GWZ4;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.;.	P	229;229;67;197;160;197	ENSP00000357232:L229P;ENSP00000357229:L229P;ENSP00000441197:L67P;ENSP00000383777:L197P;ENSP00000255013:L160P;ENSP00000389836:L197P	ENSP00000255013:L160P	L	+	2	0	RHBG	154617774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.966000	0.70395	2.187000	0.69744	0.533000	0.62120	CTG	0	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD		0.557	RHBG-001	NOVEL	basic	protein_coding	RHBG	protein_coding	OTTHUMT00000060589.2	34	147	0	0.00	0	0	T	NM_001256395	0	0		156351150	1	no_errors	ENST00000368246	ensembl	human	known	74_37	missense	34	209	14.63	16.40	6	41	SNP	1	C	C	156351150	T	C	156351150	3	2	97	1	0	0	0	0	1	0	0	0	13324	1580	55	4	704	4	RHBG	1	156351150	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	82252	156351150	92899471	54	1253											
ATP1A2	477	genome.wustl.edu	37	chr1	160093111	160093111	+	Frame_Shift_Del	DEL	G	G	-																															agttctgccgtcagcttttcGgggggttctccatcctgctg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:160093111delG	ENST00000361216.3	+	4	375	c.286delG	c.(286-288)gggfs	p.G97fs	ATP1A2_ENST00000392233.3_Frame_Shift_Del_p.G97fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	97					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)			TCAGCTTTTCGGGGGGTTCTC	0.602																																							0											0													197	201	199					1																	160093111		2203	4300	6503	SO:0001589	frameshift_variant	0			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.286delG	1.37:g.160093111delG	ENSP00000354490:p.Gly97fs		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Frame_Shift_Del	DEL	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.F98fs	ENST00000361216.3	37	c.286	CCDS1196.1	1																																																																																			0	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	protein_coding	OTTHUMT00000060642.2	64	136	0	0.00	0	0	G	NM_000702	0	0		160093111	1	no_errors	ENST00000361216	ensembl	human	known	74_37	frame_shift_del	56	158	25.33	26.85	19	58	DEL	1	0	-	160093111	G	-	160093111	7	5	97	1	0	1	0	1	0	0	0	0	1129	1116	39	0	300	0	ATP1A2	1	160093111	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	3741961	160093111	89157510	55	1254											
DEDD	9191	genome.wustl.edu	37	chr1	161094036	161094036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcacagcggccctggcGctccagtgccaataagaagt	10	8	10	13	2	2	1	2	0	0	1	3	1	3	1	3	2	2	1	3	2	3	2	rs151010008		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:161094036G>A	ENST00000368006.3	-	3	431	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	DEDD_ENST00000368005.1_Missense_Mutation_p.R73C|DEDD_ENST00000490843.2_Missense_Mutation_p.R73C|DEDD_ENST00000545495.1_Missense_Mutation_p.R73C|DEDD_ENST00000392188.1_Missense_Mutation_p.R73C|DEDD_ENST00000489249.1_Intron|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000458050.2_Missense_Mutation_p.R73C	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	73	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)			CGGCCCTGGCGCTCCAGTGCC	0.552																																							0											0								G	CYS/ARG,CYS/ARG,,CYS/ARG	0,4406		0,0,2203	85	75	78		217,217,,217	5.7	1	1	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3,missense	NIT1,DEDD	NM_001039711.1,NM_001039712.1,NM_001185092.1,NM_032998.2	180,180,,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging	73/319,73/319,,73/319	161094036	1,13005	2203	4300	6503	SO:0001583	missense	0			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.217C>T	1.37:g.161094036G>A	ENSP00000356985:p.Arg73Cys		D3DVF5|O60737	Missense_Mutation	SNP	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	p.R73C	ENST00000368006.3	37	c.217	CCDS1219.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296459	0.81025	0.0	1.16E-4	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005	.	.	.	5.66	5.66	0.87406	DEATH-like (2);Death effector (3);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67231	0.95;0.895	T	0.65092	-0.6252	9	0.87932	D	0	.	12.219	0.54423	0.0:0.0:0.8299:0.1701	.	73;73	B1AQP5;O75618	.;DEDD_HUMAN	C	73	.	ENSP00000356984:R73C	R	-	1	0	DEDD	159360660	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.675000	0.68123	2.669000	0.90835	0.655000	0.94253	CGC	0	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED		0.552	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	protein_coding	OTTHUMT00000080582.1	45	141	0	0.00	0	0	G	NM_004216	rs151010008	G->A		161094036	-1	no_errors	ENST00000368005	ensembl	human	known	74_37	missense	27	144	10	21.74	3	40	SNP	1	A	A	161094036	G	A	161094036	3	1	97	1	0	0	0	0	1	0	0	0	4384	1087	38	1	755	1	DEDD	1	161094036	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1000925	161094036	88156585	56	1255											
NUF2	83540	genome.wustl.edu	37	chr1	163313649	163313649	+	Frame_Shift_Del	DEL	A	A	-																															aagatacggtccagaagcttAaaaatgccagagtgagtttt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:163313649delA	ENST00000271452.3	+	10	1075	c.796delA	c.(796-798)aaafs	p.K266fs	NUF2_ENST00000367900.3_Frame_Shift_Del_p.K266fs|NUF2_ENST00000524800.1_Frame_Shift_Del_p.K266fs	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	266	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)					CCAGAAGCTTAAAAATGCCAG	0.249																																							0											0													26	30	28					1																	163313649		2141	4259	6400	SO:0001589	frameshift_variant	0			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.796delA	1.37:g.163313649delA	ENSP00000271452:p.Lys266fs		Q8WU69|Q96HJ4|Q96Q78	Frame_Shift_Del	DEL	pfam_Kinetochore_Nuf2	p.N267fs	ENST00000271452.3	37	c.796	CCDS1245.1	1																																																																																			0	NULL		0.249	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	protein_coding	OTTHUMT00000082812.1	332	169	0	0.00	0	0	A	NM_145697	0	0		163313649	1	no_errors	ENST00000271452	ensembl	human	known	74_37	frame_shift_del	279	234	20.74	19.59	73	57	DEL	0.906	0	-	163313649	A	-	163313649	7	5	97	1	0	1	0	1	0	0	0	0	10747	363	13	0	830	0	NUF2	1	163313649	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	2219613	163313649	85936972	57	1256											
LRRC52	440699	genome.wustl.edu	37	chr1	165514119	165514119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctctttcctggacttcGccatcttcttaatagtgttc	6	17	6	12	1	3	0	0	0	3	0	6	1	4	1	2	1	1	2	2	1	2	6	rs149365089		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:165514119G>A	ENST00000294818.1	+	1	876	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	196	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCTGGACTTCGCCATCTTCTT	0.517																																							0											0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	119	121	121		586	2	1	1	dbSNP_134	121	0,8600		0,0,4300	no	missense	LRRC52	NM_001005214.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	196/314	165514119	1,13005	2203	4300	6503	SO:0001583	missense	0			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.586G>A	1.37:g.165514119G>A	ENSP00000294818:p.Ala196Thr		A2RUN7|Q5T9K5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.A196T	ENST00000294818.1	37	c.586	CCDS30930.1	1	.	.	.	.	.	.	.	.	.	.	G	4.672	0.124953	0.08931	2.27E-4	0.0	ENSG00000162763	ENST00000294818	T	0.02446	4.29	5.39	2.01	0.26516	.	0.522829	0.22968	N	0.053475	T	0.00241	0.0007	N	0.00162	-1.95	0.23594	N	0.997334	B	0.10296	0.003	B	0.06405	0.002	T	0.32877	-0.9890	9	0.19147	T	0.46	.	5.5138	0.16896	0.6881:0.1762:0.1357:0.0	.	196	Q8N7C0	LRC52_HUMAN	T	196	ENSP00000294818:A196T	ENSP00000294818:A196T	A	+	1	0	LRRC52	163780743	0.461000	0.25783	1.000000	0.80357	0.998000	0.95712	0.009000	0.13219	0.119000	0.18210	0.563000	0.77884	GCC	0	NULL		0.517	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC52	protein_coding	OTTHUMT00000083793.1	33	180	0	0.00	0	0	G	NM_001005214	rs149365089	G->A		165514119	1	no_errors	ENST00000294818	ensembl	human	known	74_37	missense	45	200	23.73	22.39	14	58	SNP	1	A	A	165514119	G	A	165514119	3	1	97	1	0	0	0	0	1	0	0	0	9010	1087	38	1	588	1	LRRC52	1	165514119	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2200470	165514119	83736502	58	1257											
GPR161	23432	genome.wustl.edu	37	chr1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-																															ctcggcggcccccgaagccgCcccccgggacagtccgtgct																								rs147976800		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:168054869delC	ENST00000367838.1	-	8	1803	c.1490delG	c.(1489-1491)ggcfs	p.G498fs	GPR161_ENST00000539777.1_Frame_Shift_Del_p.G420fs|GPR161_ENST00000537209.1_Frame_Shift_Del_p.G518fs|GPR161_ENST00000367836.1_Frame_Shift_Del_p.G366fs|GPR161_ENST00000361697.2_Frame_Shift_Del_p.G498fs|GPR161_ENST00000367835.1_Frame_Shift_Del_p.G498fs|GPR161_ENST00000271357.5_Frame_Shift_Del_p.G498fs|GPR161_ENST00000546300.1_Frame_Shift_Del_p.G384fs	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	498					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.G497fs*13(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCGAAGCCGCCCCCCGGGAC	0.582																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											64	78	74					1																	168054869		2203	4300	6503	SO:0001589	frameshift_variant	0			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"GPCR / Class A : Orphans"	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1490delG	1.37:g.168054869delC	ENSP00000356812:p.Gly498fs		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G517fs	ENST00000367838.1	37	c.1550	CCDS1268.1	1																																																																																			0	NULL		0.582	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	protein_coding	OTTHUMT00000083829.1	44	66	0	0.00	0	0	C	NM_007369	0	0		168054869	-1	no_errors	ENST00000537209	ensembl	human	known	74_37	frame_shift_del	38	112	19.15	22.76	9	33	DEL	0	0	-	168054869	C	-	168054869	7	5	97	1	0	1	0	1	0	0	0	0	6665	739	26	0	103	0	GPR161	1	168054869	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	2540750	168054869	81195752	59	1258											
CENPL	91687	genome.wustl.edu	37	chr1	173776460	173776461	+	Frame_Shift_Ins	INS	-	-	A																															tttcattcctaggagagtagINSaaaaaatcactttgatgttg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:173776460_173776461insA	ENST00000345664.6	-	3	577_578	c.364_365insT	c.(364-366)tctfs	p.S122fs	CENPL_ENST00000367710.3_Frame_Shift_Ins_p.S122fs|CENPL_ENST00000356198.2_Frame_Shift_Ins_p.S122fs|Y_RNA_ENST00000516548.1_RNA	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	122					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						TAGGAGAGTAGAAAAAATCACT	0.381																																							0											0																																										SO:0001589	frameshift_variant	0			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"chromosome 1 open reading frame 155"	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.365dupT	1.37:g.173776466_173776466dupA	ENSP00000323543:p.Ser122fs		Q5TEL5|Q96ND4	Frame_Shift_Ins	INS	NULL	p.S122fs	ENST00000345664.6	37	c.365_364	CCDS30938.1	1																																																																																			0	NULL		0.381	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPL	protein_coding	OTTHUMT00000084213.1	178	307	0	0.00	0	0	0	NM_033319	0	0		173776461	-1	no_errors	ENST00000356198	ensembl	human	known	74_37	frame_shift_ins	154	409	28.7	15.67	62	76	INS	1.000:1.000	A	A	173776461	-	A	173776460	7	5	97	1	0	1	1	0	0	0	0	0	3236	942	33	0	823	0	CENPL	1	173776460	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	5721591	173776460	75474161	60	1259											
STX6	10228	genome.wustl.edu	37	chr1	180971836	180971836	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggatttgcttcaactatgCgtaggtcaaaaagtcaaggt	13	12	10	6	1	3	0	3	0	0	0	3	1	3	1	0	3	3	2	0	3	7	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:180971836C>T	ENST00000258301.5	-	3	443	c.206G>A	c.(205-207)aGc>aAc	p.S69N	STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	69					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)	p.S69N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TTCAACTATGCGTAGGTCAAA	0.368																																							0											1	Substitution - Missense(1)	large_intestine(1)											128	122	124					1																	180971836		2201	4299	6500	SO:0001630	splice_region_variant	0			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.206-1G>A	1.37:g.180971836C>T			B2R652|B4DR17|Q5VY08|Q6FH83	Missense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.S69N	ENST00000258301.5	37	c.206	CCDS1341.1	1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606871	0.28623	.	.	ENSG00000135823	ENST00000258301	.	.	.	5.58	4.67	0.58626	.	0.378650	0.34067	N	0.004282	T	0.54111	0.1838	L	0.34521	1.04	0.24451	N	0.99449	.	.	.	.	.	.	T	0.57207	-0.7851	6	0.19590	T	0.45	.	15.5677	0.76306	0.139:0.861:0.0:0.0	.	.	.	.	N	69	.	ENSP00000258301:S69N	S	-	2	0	STX6	179238459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.966000	0.76073	1.329000	0.45376	0.655000	0.94253	AGC	0	pfam_Syntaxin-6_N,superfamily_t-SNARE		0.368	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX6	protein_coding	OTTHUMT00000085143.1	81	308	0	0.00	0	0	C	NM_005819	0	0	Missense_Mutation	180971836	-1	no_errors	ENST00000258301	ensembl	human	known	74_37	missense	72	378	28	24.05	28	120	SNP	1	T	T	180971836	C	T	180971836	5	4	97	1	0	0	0	0	0	0	1	0	15348	782	27	1	585	1	STX6	1	180971836	Splice_Site	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7195376	180971836	68278785	61	1260											
ZNF648	127665	genome.wustl.edu	37	chr1	182026601	182026601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagagttccctgcggacGtgtctacacttttgtgcgca	8	11	12	10	3	1	2	0	0	1	2	2	4	2	3	1	1	3	2	1	1	2	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:182026601G>A	ENST00000339948.3	-	2	752	c.545C>T	c.(544-546)aCg>aTg	p.T182M		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	182					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						CCCTGCGGACGTGTCTACACT	0.582																																					NSCLC(71;908 1374 5429 20458 35642)		0											0													62	66	64					1																	182026601		2203	4300	6503	SO:0001583	missense	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.545C>T	1.37:g.182026601G>A	ENSP00000344129:p.Thr182Met		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T182M	ENST00000339948.3	37	c.545	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	8.345	0.829588	0.16749	.	.	ENSG00000179930	ENST00000339948	T	0.07327	3.2	2.71	-0.495	0.12030	.	.	.	.	.	T	0.04679	0.0127	N	0.24115	0.695	0.09310	N	1	B	0.27117	0.168	B	0.17722	0.019	T	0.39057	-0.9632	9	0.87932	D	0	.	2.4938	0.04616	0.1165:0.1713:0.5043:0.2079	.	182	Q5T619	ZN648_HUMAN	M	182	ENSP00000344129:T182M	ENSP00000344129:T182M	T	-	2	0	ZNF648	180293224	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.060000	0.11712	-0.096000	0.12329	-0.140000	0.14226	ACG	0	NULL		0.582	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	protein_coding	OTTHUMT00000090794.1	79	167	0	0.00	0	0	G	XM_060597	0	0		182026601	-1	no_errors	ENST00000339948	ensembl	human	novel	74_37	missense	56	152	30	32.74	24	74	SNP	0	A	A	182026601	G	A	182026601	3	1	97	1	0	0	0	0	1	0	0	0	18060	1145	40	1	1165	1	ZNF648	1	182026601	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1054765	182026601	67224020	62	1261											
SMG7	9887	genome.wustl.edu	37	chr1	183511427	183511427	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacaggagagaagccagtGgttaccttcaaagaaaacat	17	6	10	8	0	1	2	1	0	0	2	1	5	1	3	2	2	3	1	2	2	5	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:183511427G>T	ENST00000347615.2	+	14	1751	c.1632G>T	c.(1630-1632)gtG>gtT	p.V544V	SMG7_ENST00000508461.1_Silent_p.V502V|SMG7_ENST00000456731.2_Silent_p.V502V|SMG7_ENST00000367537.3_Silent_p.V573V|SMG7_ENST00000515829.2_Silent_p.V544V|SMG7_ENST00000507469.1_Silent_p.V544V	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	544					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						AGAAGCCAGTGGTTACCTTCA	0.448																																							0											0													128	128	128					1																	183511427		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1632G>T	1.37:g.183511427G>T			B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	pfam_EST1	p.V544	ENST00000347615.2	37	c.1632	CCDS1355.1	1																																																																																			0	NULL		0.448	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	protein_coding	OTTHUMT00000085432.1	33	247	0	0.00	0	0	G	NM_014837	0	0		183511427	1	no_errors	ENST00000507469	ensembl	human	known	74_37	silent	35	310	22.22	17.99	10	68	SNP	1	T	T	183511427	G	T	183511427	2	4	97	1	0	0	0	0	0	0	0	1	14798	1335	47	5		5	SMG7	1	183511427	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1484826	183511427	65739194	63	1262											
RGL1	23179	genome.wustl.edu	37	chr1	183854067	183854067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagaagtggatcaacatcGctcatgtaattgtcttttat	11	16	8	6	1	3	1	2	1	1	1	4	3	3	2	0	1	1	2	0	1	4	5	rs78436705		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:183854067G>A	ENST00000360851.3	+	7	1124	c.946G>A	c.(946-948)Gct>Act	p.A316T	RGL1_ENST00000536277.1_Missense_Mutation_p.A314T|RGL1_ENST00000304685.4_Missense_Mutation_p.A351T|RGL1_ENST00000539189.1_Missense_Mutation_p.A316T			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	316	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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						GATCAACATCGCTCATGTAAT	0.398													G|||	1	0.000199681	0	0	5008	,	,		19327	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0													79	73	75					1																	183854067		2203	4300	6503	SO:0001583	missense	0			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.946G>A	1.37:g.183854067G>A	ENSP00000354097:p.Ala316Thr		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	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.A351T	ENST00000360851.3	37	c.1051		1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	34	5.377008	0.95945	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	4.96	4.96	0.65561	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	H	0.95745	3.715	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;0.999;0.998;0.999;0.999	D	0.88826	0.3302	10	0.72032	D	0.01	.	18.6014	0.91249	0.0:0.0:1.0:0.0	.	316;314;121;316;351	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	T	351;351;314;121;316;316	ENSP00000303192:A351T;ENSP00000356501:A351T;ENSP00000438662:A314T;ENSP00000354097:A316T;ENSP00000437355:A316T	ENSP00000303192:A351T	A	+	1	0	RGL1	182120690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.185000	0.94900	2.467000	0.83353	0.650000	0.86243	GCT	0	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.398	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	protein_coding	OTTHUMT00000085742.1	40	258	0	0.00	0	0	G	NM_015149	rs78436705	G->A		183854067	1	no_errors	ENST00000304685	ensembl	human	known	74_37	missense	33	292	23.26	18.44	10	66	SNP	1	A	A	183854067	G	A	183854067	3	1	97	1	0	0	0	0	1	0	0	0	13276	1087	38	1	1077	1	RGL1	1	183854067	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	342640	183854067	65396554	64	1263											
RGL1	23179	genome.wustl.edu	37	chr1	183857685	183857685	+	Frame_Shift_Del	DEL	A	A	-																															tctaattccatctatcggttAaaaaagacttgggctgccgt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:183857685delA	ENST00000360851.3	+	8	1207	c.1029delA	c.(1027-1029)ttafs	p.L343fs	RGL1_ENST00000536277.1_Frame_Shift_Del_p.L341fs|RGL1_ENST00000304685.4_Frame_Shift_Del_p.L378fs|RGL1_ENST00000539189.1_Frame_Shift_Del_p.L343fs			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	343	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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						TCTATCGGTTAAAAAAGACTT	0.458																																							0											0													117	122	121					1																	183857685		2203	4299	6502	SO:0001589	frameshift_variant	0			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1029delA	1.37:g.183857685delA	ENSP00000354097:p.Leu343fs		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Frame_Shift_Del	DEL	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.K380fs	ENST00000360851.3	37	c.1134		1																																																																																			0	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.458	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	protein_coding	OTTHUMT00000085742.1	113	240	0	0.00	0	0	A	NM_015149	0	0		183857685	1	no_errors	ENST00000304685	ensembl	human	known	74_37	frame_shift_del	69	321	14.81	18.32	12	72	DEL	0.998	0	-	183857685	A	-	183857685	7	5	97	1	0	1	0	1	0	0	0	0	13276	359	13	0	1164	0	RGL1	1	183857685	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	3618	183857685	65392936	65	1264											
HMCN1	83872	genome.wustl.edu	37	chr1	186106785	186106785	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaatgcgaaactgtcaaAataagccttgtccaggtaca	15	9	9	8	1	1	0	1	0	0	0	2	2	2	1	2	2	4	1	2	2	6	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:186106785A>G	ENST00000271588.4	+	88	13967	c.13738A>G	c.(13738-13740)Aat>Gat	p.N4580D	HMCN1_ENST00000367492.2_Missense_Mutation_p.N4580D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4580	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						AAACTGTCAAAATAAGCCTTG	0.453																																							0											0													80	82	81					1																	186106785		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13738A>G	1.37:g.186106785A>G	ENSP00000271588:p.Asn4580Asp		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.N4580D	ENST00000271588.4	37	c.13738	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	8.715	0.912867	0.17907	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.52295	0.67;0.67	5.78	4.71	0.59529	.	0.282354	0.44902	D	0.000414	T	0.33614	0.0869	L	0.31157	0.91	0.09310	N	1	B	0.27316	0.175	B	0.27608	0.081	T	0.16600	-1.0397	10	0.11182	T	0.66	.	12.5795	0.56383	0.6565:0.3435:0.0:0.0	.	4580	Q96RW7	HMCN1_HUMAN	D	4580	ENSP00000271588:N4580D;ENSP00000356462:N4580D	ENSP00000271588:N4580D	N	+	1	0	HMCN1	184373408	0.926000	0.31397	0.003000	0.11579	0.552000	0.35366	4.575000	0.60908	1.140000	0.42260	0.528000	0.53228	AAT	0	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	37	300	2.63	0.00	1	0	A	NM_031935	0	0		186106785	1	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	30	278	28.57	23.20	12	84	SNP	0.04	G	G	186106785	A	G	186106785	3	3	97	1	0	0	0	0	1	0	0	0	7220	14	1	3	14088	3	HMCN1	1	186106785	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	2249100	186106785	63143836	66	1265											
PRG4	10216	genome.wustl.edu	37	chr1	186276066	186276066	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccaccaaggagcctgcAcccaccactcccaaggagcc	12	2	7	20	0	0	0	0	0	0	0	1	2	1	2	8	2	3	1	8	2	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:186276066A>G	ENST00000445192.2	+	7	1260	c.1215A>G	c.(1213-1215)gcA>gcG	p.A405A	PRG4_ENST00000367486.3_Silent_p.A362A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.A312A|PRG4_ENST00000367483.4_Silent_p.A364A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	405	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						AGGAGCCTGCACCCACCACTC	0.657																																							0											0													92	86	88					1																	186276066		2203	4297	6500	SO:0001819	synonymous_variant	0			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.1215A>G	1.37:g.186276066A>G			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.A405	ENST00000445192.2	37	c.1215	CCDS1369.1	1																																																																																			0	NULL		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	117	61	0	0.00	0	0	A	NM_005807	0	0		186276066	1	no_errors	ENST00000445192	ensembl	human	known	74_37	silent	100	88	19.38	18.25	25	23	SNP	0	G	G	186276066	A	G	186276066	2	3	97	1	0	0	0	0	0	0	0	1	12481	146	6	3		3	PRG4	1	186276066	Silent	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	169281	186276066	62974555	67	1266											
PRG4	10216	genome.wustl.edu	37	chr1	186276985	186276985	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaactacccctaaagggActgctccaactaccctcaag	12	7	5	17	0	1	0	1	0	0	0	3	1	3	1	5	1	5	1	5	1	7	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:186276985A>T	ENST00000445192.2	+	7	2179	c.2134A>T	c.(2134-2136)Act>Tct	p.T712S	PRG4_ENST00000367486.3_Missense_Mutation_p.T669S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T619S|PRG4_ENST00000367483.4_Missense_Mutation_p.T671S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	712	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						CCCTAAAGGGACTGCTCCAAC	0.592																																							0											0													165	178	174					1																	186276985		2203	4300	6503	SO:0001583	missense	0			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.2134A>T	1.37:g.186276985A>T	ENSP00000399679:p.Thr712Ser		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.T712S	ENST00000445192.2	37	c.2134	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	-	5.164	0.215784	0.09810	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04156	3.69;3.8;3.74;3.8	1.73	-1.81	0.07882	.	0.171881	0.27654	U	0.018413	T	0.03178	0.0093	L	0.36672	1.1	0.09310	N	0.999994	B;B;B;B	0.26445	0.149;0.149;0.092;0.149	B;B;B;B	0.21360	0.034;0.034;0.015;0.034	T	0.42849	-0.9427	9	.	.	.	.	6.2481	0.20830	0.6636:0.3364:0.0:0.0	.	578;619;712;671	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	669;578;671;619;712	ENSP00000356456:T669S;ENSP00000356453:T671S;ENSP00000356455:T619S;ENSP00000399679:T712S	.	T	+	1	0	PRG4	184543608	0.000000	0.05858	0.001000	0.08648	0.124000	0.20399	-4.679000	0.00199	0.002000	0.14630	0.055000	0.15244	ACT	0	NULL		0.592	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	92	162	1.08	0.00	1	0	A	NM_005807	0	0		186276985	1	no_errors	ENST00000445192	ensembl	human	known	74_37	missense	80	175	31.62	19.56	37	44	SNP	0.006	T	T	186276985	A	T	186276985	3	4	97	1	0	0	0	0	1	0	0	0	12481	275	10	5	2156	5	PRG4	1	186276985	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	919	186276985	62973636	68	1267											
TPR	7175	genome.wustl.edu	37	chr1	186313621	186313621	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccatttttgaaacctgCtccttcgcagcttgtagagc	8	13	9	11	1	0	2	0	1	0	1	2	3	1	2	3	0	5	4	3	0	2	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:186313621C>T	ENST00000367478.4	-	25	3599	c.3303G>A	c.(3301-3303)gaG>gaA	p.E1101E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1101					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)		TTGAAACCTGCTCCTTCGCAG	0.423			T	NTRK1	papillary thyroid																																		0		Dom	yes		1	1q25	7175	translocated promoter region		E	0													222	200	207					1																	186313621		1944	4166	6110	SO:0001819	synonymous_variant	0			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.3303G>A	1.37:g.186313621C>T			Q15655|Q5SWY0|Q99968	Silent	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E1101	ENST00000367478.4	37	c.3303	CCDS41446.1	1																																																																																			0	pfam_TPR_MLP1_2		0.423	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	protein_coding	OTTHUMT00000086353.2	46	159	0	0.00	0	0	C	NM_003292	0	0		186313621	-1	no_errors	ENST00000367478	ensembl	human	known	74_37	silent	47	194	22.95	30.96	14	87	SNP	0.99	T	T	186313621	C	T	186313621	2	4	97	1	0	0	0	0	0	0	0	1	16413	796	28	3		3	TPR	1	186313621	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	36636	186313621	62937000	69	1268											
GLRX2	51022	genome.wustl.edu	37	chr1	193066784	193066784	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaagcaggtccagttccAccactttatagttaacattc	12	13	5	11	0	1	0	1	0	0	0	4	0	3	0	3	1	2	3	3	1	4	7			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:193066784A>G	ENST00000367439.3	-	3	338	c.290T>C	c.(289-291)gTg>gCg	p.V97A	GLRX2_ENST00000472197.1_5'UTR|GLRX2_ENST00000367440.3_Missense_Mutation_p.V98A	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	97	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	GTCCAGTTCCACCACTTTATA	0.378																																							0											0													146	138	140					1																	193066784		2203	4300	6503	SO:0001583	missense	0			AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677	ENST00000367439.3:c.290T>C	1.37:g.193066784A>G	ENSP00000356409:p.Val97Ala		Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir	p.V98A	ENST00000367439.3	37	c.293	CCDS1381.1	1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.906195	0.92107	.	.	ENSG00000023572	ENST00000367439;ENST00000367440	T;T	0.36340	1.26;1.26	6.03	6.03	0.97812	Glutaredoxin (2);Glutaredoxin, eukaryotic/virial (1);Thioredoxin-like fold (2);	0.167023	0.52532	D	0.000075	T	0.71375	0.3332	H	0.95470	3.675	0.58432	D	0.999998	D;D	0.67145	0.987;0.996	D;D	0.71656	0.932;0.974	T	0.80703	-0.1264	10	0.72032	D	0.01	-34.8052	16.2196	0.82251	1.0:0.0:0.0:0.0	.	98;97	Q9NS18-2;Q9NS18	.;GLRX2_HUMAN	A	97;98	ENSP00000356409:V97A;ENSP00000356410:V98A	ENSP00000356409:V97A	V	-	2	0	GLRX2	191333407	0.996000	0.38824	0.996000	0.52242	0.980000	0.70556	7.048000	0.76606	2.308000	0.77769	0.533000	0.62120	GTG	0	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,tigrfam_Glutaredoxin_euk/vir		0.378	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLRX2	protein_coding	OTTHUMT00000086699.1	85	249	0	0.00	0	0	A	NM_016066	0	0		193066784	-1	no_errors	ENST00000367440	ensembl	human	known	74_37	missense	95	290	23.39	25.95	29	102	SNP	0.996	G	G	193066784	A	G	193066784	3	3	97	1	0	0	0	0	1	0	0	0	6460	159	6	3	212	3	GLRX2	1	193066784	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	6753163	193066784	56183837	70	1269											
CACNA1S	779	genome.wustl.edu	37	chr1	201016708	201016708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctggttctcttccagatCttcttgatgatggccctcag	6	15	9	11	0	4	3	1	2	3	1	6	3	5	3	2	2	1	2	2	2	0	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:201016708C>A	ENST00000362061.3	-	37	4714	c.4488G>T	c.(4486-4488)aaG>aaT	p.K1496N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.K1477N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1496					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)	TCTTCCAGATCTTCTTGATGA	0.517																																							0											0													123	102	109					1																	201016708		2203	4300	6503	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4488G>T	1.37:g.201016708C>A	ENSP00000355192:p.Lys1496Asn		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.K1496N	ENST00000362061.3	37	c.4488	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	19.54	3.846136	0.71603	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.09255	3.0;3.0	4.94	4.94	0.65067	.	0.264229	0.41938	D	0.000781	T	0.22820	0.0551	M	0.74389	2.26	0.50632	D	0.999883	D	0.62365	0.991	P	0.53593	0.73	T	0.00438	-1.1739	10	0.51188	T	0.08	.	10.2695	0.43475	0.0:0.8701:0.0:0.1299	.	1496	Q13698	CAC1S_HUMAN	N	1496;1477	ENSP00000355192:K1496N;ENSP00000356307:K1477N	ENSP00000355192:K1496N	K	-	3	2	CACNA1S	199283331	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.644000	0.24766	2.459000	0.83118	0.561000	0.74099	AAG	0	NULL		0.517	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	23	184	0	0.00	0	0	C	NM_000069	0	0		201016708	-1	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	22	172	29.03	17.22	9	36	SNP	1	A	A	201016708	C	A	201016708	3	1	97	1	0	0	0	0	1	0	0	0	2547	912	32	5	1165	5	CACNA1S	1	201016708	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7949924	201016708	48233913	71	1270											
KLHL12	59349	genome.wustl.edu	37	chr1	202861669	202861669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccaacaatggtcacttctCgcggagaacacaaacaccag	14	6	7	14	2	2	1	1	0	1	1	4	2	3	1	2	2	3	0	2	2	4	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:202861669C>T	ENST00000367261.3	-	12	1917	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	KLHL12_ENST00000367259.1_3'UTR|KLHL12_ENST00000435533.3_Missense_Mutation_p.E605K	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	567	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTCACTTCTCGCGGAGAACA	0.488																																							0											0													114	93	100					1																	202861669		2203	4300	6503	SO:0001583	missense	0			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1699G>A	1.37:g.202861669C>T	ENSP00000356230:p.Glu567Lys		A6NEN8|B7Z7B8|Q9HBX5	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.E605K	ENST00000367261.3	37	c.1813	CCDS1429.1	1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416090	0.62511	.	.	ENSG00000117153	ENST00000367261;ENST00000435533	T;T	0.68479	-0.3;-0.33	5.27	5.27	0.74061	.	.	.	.	.	T	0.59101	0.2169	N	0.12831	0.26	0.80722	D	1	D;B	0.55605	0.972;0.006	P;B	0.54759	0.76;0.001	T	0.54899	-0.8224	9	0.02654	T	1	.	19.2678	0.93997	0.0:1.0:0.0:0.0	.	605;567	B7Z7B8;Q53G59	.;KLH12_HUMAN	K	567;605	ENSP00000356230:E567K;ENSP00000416886:E605K	ENSP00000356230:E567K	E	-	1	0	KLHL12	201128292	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.776000	0.85560	2.599000	0.87857	0.650000	0.86243	GAG	0	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.488	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL12	protein_coding	OTTHUMT00000099151.1	55	61	0	0.00	0	0	C	NM_021633	0	0		202861669	-1	no_errors	ENST00000435533	ensembl	human	known	74_37	missense	47	66	12.96	15.38	7	12	SNP	1	T	T	202861669	C	T	202861669	3	4	97	1	0	0	0	0	1	0	0	0	8368	893	31	2	11	2	KLHL12	1	202861669	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1844961	202861669	46388952	72	1271											
ATP2B4	493	genome.wustl.edu	37	chr1	203682357	203682357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgcgatcttctcccaCtgacaagcacaccctggtga	8	8	9	16	2	2	2	0	2	2	0	3	3	2	2	3	2	1	1	3	2	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:203682357C>A	ENST00000357681.5	+	14	3399	c.2276C>A	c.(2275-2277)aCt>aAt	p.T759N	ATP2B4_ENST00000367219.3_Missense_Mutation_p.T747N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.T759N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.T759N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.T759N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	759					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)			TCTTCTCCCACTGACAAGCAC	0.552																																							0											0													175	162	166					1																	203682357		2203	4300	6503	SO:0001583	missense	0			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.2276C>A	1.37:g.203682357C>A	ENSP00000350310:p.Thr759Asn		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.T759N	ENST00000357681.5	37	c.2276	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032237	0.93575	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72	5.2	5.2	0.72013	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.135636	0.34178	N	0.004187	D	0.96670	0.8913	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	1.0;0.973;0.997	D;P;D	0.83275	0.983;0.874;0.996	D	0.97412	1.0003	10	0.72032	D	0.01	-20.5918	18.3579	0.90364	0.0:1.0:0.0:0.0	.	759;759;759	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	N	759;759;747;759;759	ENSP00000350310:T759N;ENSP00000356187:T759N;ENSP00000356188:T747N;ENSP00000375816:T759N;ENSP00000340930:T759N	ENSP00000340930:T759N	T	+	2	0	ATP2B4	201948980	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.792000	0.85828	2.429000	0.82318	0.650000	0.86243	ACT	0	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase		0.552	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	protein_coding	OTTHUMT00000087462.1	48	138	0	0.00	0	0	C	NM_001001396	0	0		203682357	1	no_errors	ENST00000357681	ensembl	human	known	74_37	missense	37	187	19.15	23.05	9	56	SNP	1	A	A	203682357	C	A	203682357	3	1	97	1	0	0	0	0	1	0	0	0	1142	565	20	5	2326	5	ATP2B4	1	203682357	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	820688	203682357	45568264	73	1272											
KISS1	3814	genome.wustl.edu	37	chr1	204159762	204159762	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggggatctggcggctgtgGggggcggacaggcccggctg	3	5	23	10	4	1	0	0	0	1	0	1	2	1	2	1	10	0	2	1	10	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:204159762G>T	ENST00000367194.4	-	3	415	c.267C>A	c.(265-267)ccC>ccA	p.P89P		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	89					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		GGCGGCTGTGGGGGGCGGACA	0.726																																							0											0													4	5	4					1																	204159762		1433	3340	4773	SO:0001819	synonymous_variant	0			U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"Endogenous ligands"	6341	protein-coding gene	gene with protein product	"prepro-kisspeptin", "kisspeptin"	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.267C>A	1.37:g.204159762G>T			A8K6N0|Q9HBP1	Silent	SNP	NULL	p.P89	ENST00000367194.4	37	c.267	CCDS41454.1	1																																																																																			0	NULL		0.726	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KISS1	protein_coding	OTTHUMT00000087892.1	12	15	0	0.00	0	0	G	NM_002256	0	0		204159762	-1	no_errors	ENST00000367194	ensembl	human	known	74_37	silent	10	10	33.33	16.67	5	2	SNP	0	T	T	204159762	G	T	204159762	2	4	97	1	0	0	0	0	0	0	0	1	8327	1219	43	5		5	KISS1	1	204159762	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	477405	204159762	45090859	74	1273											
LRRN2	10446	genome.wustl.edu	37	chr1	204588191	204588191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtccagcttggtcagctcGgggaggttcaccagggcaaa	9	8	14	10	1	2	0	2	0	0	0	4	1	3	1	2	5	2	4	2	5	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:204588191G>A	ENST00000367175.1	-	1	3142	c.930C>T	c.(928-930)ccC>ccT	p.P310P	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367176.3_Silent_p.P310P|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Silent_p.P310P			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	310					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)			TGGTCAGCTCGGGGAGGTTCA	0.592																																							0											0													107	77	87					1																	204588191		2203	4300	6503	SO:0001819	synonymous_variant	0			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.930C>T	1.37:g.204588191G>A			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.P310	ENST00000367175.1	37	c.930	CCDS1448.1	1																																																																																			0	smart_Leu-rich_rpt_typical-subtyp		0.592	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	protein_coding	OTTHUMT00000089894.1	26	194	0	0.00	0	0	G	NM_006338	0	0		204588191	-1	no_errors	ENST00000367175	ensembl	human	known	74_37	silent	27	206	17.65	23.70	6	64	SNP	0.319	A	A	204588191	G	A	204588191	2	1	97	1	0	0	0	0	0	0	0	1	9035	1103	39	2		2	LRRN2	1	204588191	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	428429	204588191	44662430	75	1274											
TMCC2	9911	genome.wustl.edu	37	chr1	205238455	205238455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgcggcagcccaaggaCgtgctgcgggacatgcagca	8	4	14	15	4	0	0	0	0	0	0	1	2	0	2	2	3	5	4	2	3	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:205238455C>T	ENST00000358024.3	+	3	1514	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	TMCC2_ENST00000329800.7_Silent_p.D135D|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.D150D|TMCC2_ENST00000545499.1_Silent_p.D297D	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	375						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)			AGCCCAAGGACGTGCTGCGGG	0.682																																							0											0													24	24	24					1																	205238455		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1125C>T	1.37:g.205238455C>T			A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.D375	ENST00000358024.3	37	c.1125	CCDS30984.1	1																																																																																			0	pfam_Predicted_TM_coiled-coil_2		0.682	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	protein_coding	OTTHUMT00000090383.1	18	57	0	0.00	0	0	C	NM_014858	0	0		205238455	1	no_errors	ENST00000358024	ensembl	human	known	74_37	silent	35	50	18.6	26.47	8	18	SNP	0.903	T	T	205238455	C	T	205238455	2	4	97	1	0	0	0	0	0	0	0	1	15990	535	19	1		1	TMCC2	1	205238455	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	650264	205238455	44012166	76	1275											
AVPR1B	553	genome.wustl.edu	37	chr1	206225276	206225276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacgggccaagatccgaaCagtgaagatgacctttgtca	12	8	10	11	2	2	4	2	2	0	2	3	5	3	4	3	1	1	0	3	1	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:206225276C>T	ENST00000367126.4	+	1	1301	c.836C>T	c.(835-837)aCa>aTa	p.T279I	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	279					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAGATCCGAACAGTGAAGATG	0.577																																							0											0													82	77	79					1																	206225276		2203	4300	6503	SO:0001583	missense	0			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"GPCR / Class A : Vasopressin and oxytocin receptors"	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.836C>T	1.37:g.206225276C>T	ENSP00000356094:p.Thr279Ile		B0M0J6|Q5TZ00	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	p.T279I	ENST00000367126.4	37	c.836	CCDS30994.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283292	0.80803	.	.	ENSG00000198049	ENST00000367126	T	0.37915	1.17	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69409	-0.5153	10	0.87932	D	0	-26.502	18.6497	0.91427	0.0:1.0:0.0:0.0	.	279	P47901	V1BR_HUMAN	I	279	ENSP00000356094:T279I	ENSP00000356094:T279I	T	+	2	0	AVPR1B	204391899	1.000000	0.71417	0.927000	0.36925	0.858000	0.48976	7.818000	0.86416	2.499000	0.84300	0.462000	0.41574	ACA	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn		0.577	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1B	protein_coding	OTTHUMT00000087996.1	20	109	0	0.00	0	0	C	NM_000707	0	0		206225276	1	no_errors	ENST00000367126	ensembl	human	known	74_37	missense	12	120	25	23.57	4	37	SNP	1	T	T	206225276	C	T	206225276	3	4	97	1	0	0	0	0	1	0	0	0	1232	478	17	3	838	3	AVPR1B	1	206225276	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	986821	206225276	43025345	77	1276											
PLXNA2	5362	genome.wustl.edu	37	chr1	208216462	208216462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggaacaggactcgcatagCgtaggtacgatagtccaggt	11	7	14	9	4	0	0	0	0	0	0	2	3	1	2	1	4	3	3	1	4	5	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:208216462C>T	ENST00000367033.3	-	21	4718	c.3961G>A	c.(3961-3963)Gct>Act	p.A1321T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1321					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)		ACTCGCATAGCGTAGGTACGA	0.587																																							0											0													91	85	87					1																	208216462		2203	4300	6503	SO:0001583	missense	0			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.3961G>A	1.37:g.208216462C>T	ENSP00000356000:p.Ala1321Thr		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.A1321T	ENST00000367033.3	37	c.3961	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.215025	0.95104	.	.	ENSG00000076356	ENST00000367033	T	0.13538	2.58	5.42	5.42	0.78866	Plexin, cytoplasmic RasGAP domain (1);	0.047904	0.85682	D	0.000000	T	0.14013	0.0339	N	0.25060	0.705	0.80722	D	1	P	0.52577	0.954	P	0.45506	0.483	T	0.05007	-1.0912	10	0.29301	T	0.29	.	19.2386	0.93873	0.0:1.0:0.0:0.0	.	1321	O75051	PLXA2_HUMAN	T	1321	ENSP00000356000:A1321T	ENSP00000356000:A1321T	A	-	1	0	PLXNA2	206283085	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	5.727000	0.68523	2.543000	0.85770	0.650000	0.86243	GCT	0	pfam_Plexin_cytoplasmic_RasGAP_dom		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	protein_coding	OTTHUMT00000088932.6	77	173	0	0.00	0	0	C	NM_025179	0	0		208216462	-1	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	39	189	33.9	25.30	20	64	SNP	1	T	T	208216462	C	T	208216462	3	4	97	1	0	0	0	0	1	0	0	0	12120	768	27	1	1771	1	PLXNA2	1	208216462	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1991186	208216462	41034159	78	1277											
PLXNA2	5362	genome.wustl.edu	37	chr1	208219374	208219374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatccaaactcatctgggCgttccacagtgtccaggcca	11	8	8	14	1	2	0	1	0	1	0	5	0	5	0	4	2	1	1	4	2	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:208219374C>T	ENST00000367033.3	-	18	4101	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1115	IPT/TIG 3.				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)		CTCATCTGGGCGTTCCACAGT	0.493																																							0											0													145	138	141					1																	208219374		2203	4300	6503	SO:0001583	missense	0			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.3344G>A	1.37:g.208219374C>T	ENSP00000356000:p.Arg1115His		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.R1115H	ENST00000367033.3	37	c.3344	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968560	0.34754	.	.	ENSG00000076356	ENST00000367033	T	0.58797	0.31	4.34	4.34	0.51931	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.053822	0.64402	D	0.000001	T	0.41719	0.1171	N	0.17278	0.47	0.54753	D	0.999985	B	0.16802	0.019	B	0.10450	0.005	T	0.25082	-1.0142	10	0.17832	T	0.49	.	17.2333	0.86991	0.0:1.0:0.0:0.0	.	1115	O75051	PLXA2_HUMAN	H	1115	ENSP00000356000:R1115H	ENSP00000356000:R1115H	R	-	2	0	PLXNA2	206285997	1.000000	0.71417	0.998000	0.56505	0.646000	0.38490	5.651000	0.67951	2.138000	0.66242	0.563000	0.77884	CGC	0	superfamily_Ig_E-set,smart_IPT		0.493	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	protein_coding	OTTHUMT00000088932.6	48	200	0	0.00	0	0	C	NM_025179	0	0		208219374	-1	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	30	222	18.92	15.41	7	41	SNP	0.998	T	T	208219374	C	T	208219374	3	4	97	1	0	0	0	0	1	0	0	0	12120	768	27	1	2400	1	PLXNA2	1	208219374	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2912	208219374	41031247	79	1278											
C1orf107	27042	genome.wustl.edu	37	chr1	210024584	210024584	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaggaacctgattttctAtgaactgccgacatatccac	12	11	6	12	1	2	2	1	2	1	0	3	4	3	3	3	1	3	0	3	1	4	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:210024584A>G	ENST00000491415.2	+	12	2120	c.2063A>G	c.(2062-2064)tAt>tGt	p.Y688C		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	688					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						CTGATTTTCTATGAACTGCCG	0.418																																							0											0													67	64	65					1																	210024584		2203	4300	6503	SO:0001583	missense	0			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.2063A>G	1.37:g.210024584A>G	ENSP00000419005:p.Tyr688Cys		O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase	p.Y688C	ENST00000491415.2	37	c.2063	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447112	0.84101	.	.	ENSG00000117597	ENST00000491415	T	0.68025	-0.3	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.85509	0.5713	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88476	0.3065	10	0.62326	D	0.03	-3.4363	16.0303	0.80572	1.0:0.0:0.0:0.0	.	688	Q68CQ4	DIEXF_HUMAN	C	688	ENSP00000419005:Y688C	ENSP00000419005:Y688C	Y	+	2	0	DIEXF	208091207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.069000	0.93967	2.190000	0.69967	0.533000	0.62120	TAT	0	pfam_Digest_organ_expansion_fac-prd		0.418	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	protein_coding	OTTHUMT00000089127.2	68	187	0	0.00	0	0	A	NM_014388	0	0		210024584	1	no_errors	ENST00000491415	ensembl	human	known	74_37	missense	32	207	28.89	24.18	13	66	SNP	1	G	G	210024584	A	G	210024584	3	3	97	1	0	0	0	0	1	0	0	0	1981	449	16	3	2109	3	C1orf107	1	210024584	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	1805210	210024584	39226037	80	1279											
DTL	51514	genome.wustl.edu	37	chr1	212273860	212273860	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggtgacccgaacacctTcctcatcaccacccatcact	10	8	5	18	1	3	1	3	1	0	0	4	2	4	1	5	1	1	0	5	1	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:212273860T>C	ENST00000366991.4	+	14	1842	c.1528T>C	c.(1528-1530)Tcc>Ccc	p.S510P	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.S468P|RN7SKP98_ENST00000517070.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	510					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)		CCGAACACCTTCCTCATCACC	0.532																																							0											0													79	80	80					1																	212273860		2203	4300	6503	SO:0001583	missense	0			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.1528T>C	1.37:g.212273860T>C	ENSP00000355958:p.Ser510Pro		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.S510P	ENST00000366991.4	37	c.1528	CCDS1502.1	1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.164639	0.57476	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.72835	-0.62;-0.69	5.63	5.63	0.86233	.	0.558548	0.21240	N	0.077824	T	0.68595	0.3018	L	0.44542	1.39	0.28928	N	0.891745	D;D;D	0.57571	0.975;0.98;0.958	P;P;B	0.50314	0.637;0.543;0.434	T	0.66276	-0.5964	10	0.40728	T	0.16	-50.1301	9.8069	0.40799	0.2648:0.0:0.0:0.7352	.	468;510;468	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	P	510;468;189	ENSP00000355958:S510P;ENSP00000443870:S468P	ENSP00000355958:S510P	S	+	1	0	DTL	210340483	0.346000	0.24844	1.000000	0.80357	0.912000	0.54170	2.198000	0.42705	2.145000	0.66743	0.533000	0.62120	TCC	0	NULL		0.532	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	protein_coding	OTTHUMT00000090182.1	14	232	0	0.00	0	0	T	NM_016448	0	0		212273860	1	no_errors	ENST00000366991	ensembl	human	known	74_37	missense	18	267	14.29	21.47	3	73	SNP	0.833	C	C	212273860	T	C	212273860	3	2	97	1	0	0	0	0	1	0	0	0	4787	1783	62	3	1582	3	DTL	1	212273860	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	2249276	212273860	36976761	81	1280											
C1orf65	164127	genome.wustl.edu	37	chr1	223568377	223568377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgacaggccaggagtcaCgtgcacaagaccactaggga	13	4	12	12	2	1	1	1	0	0	1	2	4	2	3	3	3	1	1	3	3	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:223568377C>T	ENST00000366875.3	+	1	1663	c.1560C>T	c.(1558-1560)caC>caT	p.H520H		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		520								p.H520H(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCAGGAGTCACGTGCACAAGA	0.577																																							0											1	Substitution - coding silent(1)	kidney(1)											101	112	108					1																	223568377		2202	4300	6502	SO:0001819	synonymous_variant	0																														ENST00000366875.3:c.1560C>T	1.37:g.223568377C>T			Q8N746|Q8NA93	Silent	SNP	NULL	p.H520	ENST00000366875.3	37	c.1560	CCDS1537.1	1																																																																																			0	NULL		0.577	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	protein_coding	OTTHUMT00000092718.1	27	85	0	0.00	0	0	C		0	0		223568377	1	no_errors	ENST00000366875	ensembl	human	known	74_37	silent	19	119	36.67	24.68	11	39	SNP	0	T	T	223568377	C	T	223568377	2	4	97	1	0	0	0	0	0	0	0	1	2055	535	19	1		1	C1orf65	1	223568377	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	11294517	223568377	25682244	82	1281											
ACBD3	64746	genome.wustl.edu	37	chr1	226352529	226352529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttctctattttgtgggacGcaacatatgttgaaaagaga	12	13	9	7	1	1	2	0	1	1	1	2	4	1	3	1	1	1	2	1	1	5	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:226352529G>A	ENST00000366812.5	-	3	584	c.530C>T	c.(529-531)gCg>gTg	p.A177V		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	177					steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TTTGTGGGACGCAACATATGT	0.433																																							0											0													162	133	143					1																	226352529		2203	4300	6503	SO:0001583	missense	0			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.530C>T	1.37:g.226352529G>A	ENSP00000355777:p.Ala177Val		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD	p.A177V	ENST00000366812.5	37	c.530	CCDS1551.1	1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358703	0.41801	.	.	ENSG00000182827	ENST00000366812	T	0.27890	1.64	5.9	4.99	0.66335	.	0.298254	0.41396	D	0.000889	T	0.28830	0.0715	L	0.44542	1.39	0.33286	D	0.562924	B	0.12013	0.005	B	0.04013	0.001	T	0.29852	-0.9998	10	0.42905	T	0.14	-3.2929	15.3192	0.74109	0.0668:0.0:0.9332:0.0	.	177	Q9H3P7	GCP60_HUMAN	V	177	ENSP00000355777:A177V	ENSP00000355777:A177V	A	-	2	0	ACBD3	224419152	0.997000	0.39634	0.013000	0.15412	0.409000	0.31022	6.143000	0.71756	1.517000	0.48917	-0.186000	0.12905	GCG	0	NULL		0.433	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD3	protein_coding	OTTHUMT00000091528.1	74	319	0	0.00	0	0	G	NM_022735	0	0		226352529	-1	no_errors	ENST00000366812	ensembl	human	known	74_37	missense	55	341	18.84	24.05	13	108	SNP	0.581	A	A	226352529	G	A	226352529	3	1	97	1	0	0	0	0	1	0	0	0	123	1087	38	1	1080	1	ACBD3	1	226352529	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2784152	226352529	22898092	83	1282											
URB2	9816	genome.wustl.edu	37	chr1	229771119	229771119	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgagctactgtcatcCtacaaggaggggctcttgga	9	9	12	11	0	2	1	1	1	1	0	3	3	3	3	2	4	4	2	2	4	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:229771119C>A	ENST00000258243.2	+	4	895	c.759C>A	c.(757-759)tcC>tcA	p.S253S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	253						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						TACTGTCATCCTACAAGGAGG	0.582																																							0											0													59	61	61					1																	229771119		2203	4300	6503	SO:0001819	synonymous_variant	0			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.759C>A	1.37:g.229771119C>A			Q5VYC9	Silent	SNP	pfam_Urb2/Npa2_C	p.S253	ENST00000258243.2	37	c.759	CCDS31052.1	1																																																																																			0	NULL		0.582	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	protein_coding	OTTHUMT00000095232.1	39	186	0	0.53	0	1	C	NM_014777	0	0		229771119	1	no_errors	ENST00000258243	ensembl	human	known	74_37	silent	22	208	15.38	22.10	4	59	SNP	0.977	A	A	229771119	C	A	229771119	2	1	97	1	0	0	0	0	0	0	0	1	17022	668	24	5		5	URB2	1	229771119	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3418590	229771119	19479502	84	1283											
PCNXL2	80003	genome.wustl.edu	37	chr1	233296104	233296104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccagggatgatgcttgcGgagctgagggagcacgtaat	10	8	15	8	2	0	2	0	2	0	0	1	5	1	5	1	3	4	4	1	3	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:233296104G>A	ENST00000258229.9	-	19	3676	c.3442C>T	c.(3442-3444)Cgc>Tgc	p.R1148C	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.R281C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1148						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)				TGATGCTTGCGGAGCTGAGGG	0.463																																							0											0													81	79	80					1																	233296104		1932	4147	6079	SO:0001583	missense	0			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.3442C>T	1.37:g.233296104G>A	ENSP00000258229:p.Arg1148Cys		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.R1148C	ENST00000258229.9	37	c.3442	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023994	0.75390	.	.	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.20598	2.06	4.81	3.87	0.44632	.	.	.	.	.	T	0.51210	0.1661	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61700	-0.7009	9	0.87932	D	0	.	14.3424	0.66636	0.0:0.0:0.8509:0.1491	.	1148	A6NKB5	PCX2_HUMAN	C	1148;281	ENSP00000258229:R1148C	ENSP00000258229:R1148C	R	-	1	0	PCNXL2	231362727	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.080000	0.50112	1.172000	0.42781	0.650000	0.86243	CGC	0	NULL		0.463	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	protein_coding	OTTHUMT00000092480.3	44	135	0	0.00	0	0	G	NM_014801	0	0		233296104	-1	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	44	184	26.67	14.75	16	32	SNP	1	A	A	233296104	G	A	233296104	3	1	97	1	0	0	0	0	1	0	0	0	11592	1116	39	2	3035	2	PCNXL2	1	233296104	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3524985	233296104	15954517	85	1284											
KIAA1804	84451	genome.wustl.edu	37	chr1	233497906	233497906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagagcgcgagatcgaCgtgctggagcgggaacttaa	10	6	16	9	5	0	2	0	0	0	2	1	6	0	4	0	3	4	2	0	3	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:233497906C>T	ENST00000366624.3	+	5	1680	c.1419C>T	c.(1417-1419)gaC>gaT	p.D473D	MLK4_ENST00000366623.3_Silent_p.D473D	NM_032435.2	NP_115811.2																					GCGAGATCGACGTGCTGGAGC	0.547																																							0											0													57	56	57					1																	233497906		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000366624.3:c.1419C>T	1.37:g.233497906C>T				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.D473	ENST00000366624.3	37	c.1419	CCDS1598.1	1																																																																																			0	pirsf_MAPKKK9/10/11		0.547	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	protein_coding	OTTHUMT00000092495.1	47	151	0	0.00	0	0	C		0	0		233497906	1	no_errors	ENST00000366624	ensembl	human	known	74_37	silent	42	171	22.22	24.00	12	54	SNP	1	T	T	233497906	C	T	233497906	2	4	97	1	0	0	0	0	0	0	0	1	8259	535	19	1		1	KIAA1804	1	233497906	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	201802	233497906	15752715	86	1285											
TARBP1	6894	genome.wustl.edu	37	chr1	234561467	234561467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaataaacaacttgtgggaCatattggagccatctaataa	16	11	7	7	0	2	0	1	0	1	0	2	2	2	2	1	2	3	0	1	2	7	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:234561467C>T	ENST00000040877.1	-	20	3395	c.3396G>A	c.(3394-3396)atG>atA	p.M1132I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1132					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)			ACTTGTGGGACATATTGGAGC	0.294																																							0											0													67	72	71					1																	234561467		2201	4296	6497	SO:0001583	missense	0				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.3396G>A	1.37:g.234561467C>T	ENSP00000040877:p.Met1132Ile		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.M1132I	ENST00000040877.1	37	c.3396	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	C	9.958	1.222120	0.22457	.	.	ENSG00000059588	ENST00000040877	T	0.05139	3.49	5.02	-3.41	0.04839	Armadillo-type fold (1);	1.144440	0.06067	N	0.659501	T	0.01661	0.0053	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.45026	-0.9289	10	0.18710	T	0.47	-8.3523	1.4555	0.02384	0.1976:0.3441:0.1066:0.3518	.	1132	Q13395	TARB1_HUMAN	I	1132	ENSP00000040877:M1132I	ENSP00000040877:M1132I	M	-	3	0	TARBP1	232628090	0.000000	0.05858	0.101000	0.21167	0.963000	0.63663	-1.722000	0.01868	-0.375000	0.07955	0.591000	0.81541	ATG	0	superfamily_ARM-type_fold		0.294	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	protein_coding	OTTHUMT00000092616.1	109	295	0	0.00	0	0	C	NM_005646	0	0		234561467	-1	no_errors	ENST00000040877	ensembl	human	novel	74_37	missense	109	307	24.83	20.05	36	77	SNP	0.179	T	T	234561467	C	T	234561467	3	4	97	1	0	0	0	0	1	0	0	0	15552	478	17	3	1513	3	TARBP1	1	234561467	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1063561	234561467	14689154	87	1286											
HEATR1	55127	genome.wustl.edu	37	chr1	236744567	236744569	+	In_Frame_Del	DEL	GAG	GAG	-																															gtgtttacactgtgtcttctGagaagaaagcattgcacagc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	GAG	GAG	GAG	-	GAG	GAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:236744567_236744569delGAG	ENST00000366582.3	-	20	2822_2824	c.2708_2710delCTC	c.(2707-2712)tctcag>tag	p.903_904SQ>*	HEATR1_ENST00000366581.2_In_Frame_Del_p.903_904SQ>*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	903					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)			TGTGTCTTCTGAGAAGAAAGCAT	0.409																																							0											0																																										SO:0001651	inframe_deletion	0			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.2708_2710delCTC	1.37:g.236744567_236744569delGAG	ENSP00000355541:p.Ser903_Gln904delins*		Q5T3Q8|Q6P197|Q9NW23	In_Frame_Del	DEL	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.SQKTQ903in_frame_del*	ENST00000366582.3	37	c.2710_2708	CCDS31066.1	1																																																																																			0	superfamily_ARM-type_fold		0.409	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	protein_coding	OTTHUMT00000096635.1	46	146	0	0.00	0	0	GAG	XM_375853	0	0		236744569	-1	no_errors	ENST00000366582	ensembl	human	known	74_37	in_frame_del	45	213	15.09	17.76	8	46	DEL	0.998:0.920:0.863	0	-	236744569	GAG	-	236744567	7	5	97	1	0	1	0	1	0	0	0	0	7027	1299	45	0	3828	0	HEATR1	1	236744567	In_Frame_Del	DEL	GAG	TCGA-ZB-A966-01A-11D-A428-09	2183100	236744567	12506054	88	1287											
ZP4	57829	genome.wustl.edu	37	chr1	238053867	238053867	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaataatctggtgcctcAggcttatgctggccactcac	8	11	10	12	0	3	0	2	0	1	0	3	1	3	1	2	4	2	2	2	4	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:238053867A>G	ENST00000366570.4	-	1	227	c.69T>C	c.(67-69)ccT>ccC	p.P23P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	23					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)			CTGGTGCCTCAGGCTTATGCT	0.532																																					NSCLC(166;160 2029 11600 18754 19936)		0											0													58	55	56					1																	238053867		2203	4300	6503	SO:0001819	synonymous_variant	0			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.69T>C	1.37:g.238053867A>G			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.P23	ENST00000366570.4	37	c.69	CCDS1615.1	1																																																																																			0	NULL		0.532	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	protein_coding	OTTHUMT00000095476.1	24	100	0	0.00	0	0	A		0	0		238053867	-1	no_errors	ENST00000366570	ensembl	human	known	74_37	silent	19	102	20.83	19.38	5	25	SNP	0	G	G	238053867	A	G	238053867	2	3	97	1	0	0	0	0	0	0	0	1	18215	175	7	4		4	ZP4	1	238053867	Silent	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	1309300	238053867	11196754	89	1288											
KIF26B	55083	genome.wustl.edu	37	chr1	245849693	245849694	+	Frame_Shift_Ins	INS	-	-	A																															gaatgagcccccaggttttgINSaaaaaatccatgtctgctgg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:245849693_245849694insA	ENST00000407071.2	+	12	3848_3849	c.3408_3409insA	c.(3409-3411)aaafs	p.K1137fs	KIF26B_ENST00000366518.4_Frame_Shift_Ins_p.K756fs	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1137					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)			CCCAGGTTTTGAAAAAATCCAT	0.589																																							0											0																																										SO:0001589	frameshift_variant	0			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.3414dupA	1.37:g.245849699_245849699dupA	ENSP00000385545:p.Lys1137fs		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1138fs	ENST00000407071.2	37	c.3408_3409	CCDS44342.1	1																																																																																			0	NULL		0.589	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	protein_coding	OTTHUMT00000381037.1	50	156	0	0.00	0	0	0	XM_371354	0	0		245849694	1	no_errors	ENST00000407071	ensembl	human	known	74_37	frame_shift_ins	43	164	24.56	20.39	14	42	INS	0.910:1.000	A	A	245849694	-	A	245849693	7	5	97	1	0	1	1	0	0	0	0	0	8295	1281	45	0	3454	0	KIF26B	1	245849693	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	7795826	245849693	3400928	90	1289											
SH3BP5L	80851	genome.wustl.edu	37	chr1	249106496	249106496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgatctgctccaggttaCgaagggccacggagtagcgc	8	7	14	12	4	1	1	0	1	1	0	2	3	2	2	2	3	3	4	2	3	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:249106496C>T	ENST00000366472.5	-	7	2014	c.785G>A	c.(784-786)cGt>cAt	p.R262H	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R230H|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	262										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	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)			CTCCAGGTTACGAAGGGCCAC	0.687																																							0											0													59	59	59					1																	249106496		2203	4300	6503	SO:0001583	missense	0			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.785G>A	1.37:g.249106496C>T	ENSP00000355428:p.Arg262His		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	pfam_SH3-bd_5	p.R262H	ENST00000366472.5	37	c.785	CCDS31126.1	1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691429	0.68271	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	D	0.81579	-1.51	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.61036	1.89	0.80722	D	1	D;D;B;D	0.89917	1.0;1.0;0.138;1.0	D;D;B;D	0.87578	0.998;0.998;0.062;0.998	D	0.87832	0.2645	10	0.52906	T	0.07	-27.6462	14.9144	0.70785	0.0:1.0:0.0:0.0	.	230;155;262;120	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	H	262;230	ENSP00000412203:R230H	ENSP00000355428:R262H	R	-	2	0	SH3BP5L	247073119	0.969000	0.33509	1.000000	0.80357	0.944000	0.59088	5.031000	0.64134	2.456000	0.83038	0.467000	0.42956	CGT	0	pfam_SH3-bd_5		0.687	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5L	protein_coding	OTTHUMT00000097140.1	33	99	0	0.00	0	0	C	NM_030645	0	0		249106496	-1	no_errors	ENST00000366472	ensembl	human	known	74_37	missense	19	117	9.52	18.18	2	26	SNP	1	T	T	249106496	C	T	249106496	3	4	97	1	0	0	0	0	1	0	0	0	14248	536	19	1	400	1	SH3BP5L	1	249106496	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3256803	249106496	144125	91	1290											
TPO	7173	genome.wustl.edu	37	chr2	1437290	1437290	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagccaacaagcggagtgaTtgcccgagcagcagagataa	14	5	13	9	2	0	3	0	2	0	1	0	6	0	4	2	1	6	2	2	1	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:1437290T>A	ENST00000345913.4	+	4	351	c.260T>A	c.(259-261)aTt>aAt	p.I87N	TPO_ENST00000329066.4_Missense_Mutation_p.I87N|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.I87N|TPO_ENST00000539820.1_Missense_Mutation_p.I87N|TPO_ENST00000337415.3_Missense_Mutation_p.I87N|TPO_ENST00000349624.3_Missense_Mutation_p.I87N|TPO_ENST00000382198.1_Missense_Mutation_p.I87N|TPO_ENST00000382269.3_Missense_Mutation_p.I87N|TPO_ENST00000382201.3_Missense_Mutation_p.I87N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	87					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)	AGCGGAGTGATTGCCCGAGCA	0.428																																							0											0													118	109	112					2																	1437290		2203	4300	6503	SO:0001583	missense	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.260T>A	2.37:g.1437290T>A	ENSP00000318820:p.Ile87Asn		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.I87N	ENST00000345913.4	37	c.260	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	T	9.859	1.195716	0.22037	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;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;0.35;0.35	4.26	3.09	0.35607	.	0.740911	0.13149	N	0.410057	T	0.57403	0.2051	L	0.47716	1.5	0.09310	N	1	D;P;D;D;P	0.67145	0.973;0.899;0.996;0.973;0.954	P;P;P;P;P	0.58391	0.807;0.667;0.838;0.807;0.646	T	0.43589	-0.9382	10	0.52906	T	0.07	-5.971	7.0759	0.25203	0.0:0.1134:0.0:0.8866	.	87;87;87;87;87	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	N	87;87;87;87;87;87;87;87;87;87;16	ENSP00000371704:I87N;ENSP00000337263:I87N;ENSP00000318820:I87N;ENSP00000263886:I87N;ENSP00000332044:I87N;ENSP00000444840:I87N;ENSP00000329869:I87N;ENSP00000371636:I87N;ENSP00000390994:I87N;ENSP00000371633:I87N;ENSP00000405788:I16N	ENSP00000329869:I87N	I	+	2	0	TPO	1416297	0.887000	0.30362	0.003000	0.11579	0.002000	0.02628	2.566000	0.45948	0.603000	0.29913	0.460000	0.39030	ATT	0	NULL		0.428	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	protein_coding	OTTHUMT00000206594.2	55	211	0	0.00	0	0	T	NM_000547	0	0		1437290	1	no_errors	ENST00000329066	ensembl	human	known	74_37	missense	46	158	26.98	30.70	17	70	SNP	0.136	A	A	1437290	T	A	1437290	3	1	97	1	0	0	0	0	1	0	0	0	16407	1493	52	5	270	5	TPO	2	1437290	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09		1437290	241762083	92	1291											
MYT1L	23040	genome.wustl.edu	37	chr2	1914112	1914112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagcgatcgggcatcCggagaggctgcaatcacaga	10	6	14	11	3	1	2	1	0	0	2	3	4	2	2	1	3	4	5	1	3	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:1914112C>T	ENST00000399161.2	-	13	2464	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R	MYT1L_ENST00000428368.2_Missense_Mutation_p.G571R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	573					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)		ATCGGGCATCCGGAGAGGCTG	0.592																																							0											0													51	58	56					2																	1914112		2040	4185	6225	SO:0001583	missense	0			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.1717G>A	2.37:g.1914112C>T	ENSP00000382114:p.Gly573Arg		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.G573R	ENST00000399161.2	37	c.1717		2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933430	0.92458	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.70045	-0.43;-0.45	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.86268	0.5892	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	0.88819	0.3297	10	0.72032	D	0.01	-26.4979	19.1056	0.93293	0.0:1.0:0.0:0.0	.	573;571	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	R	573;519;571	ENSP00000382114:G573R;ENSP00000396103:G571R	ENSP00000295067:G519R	G	-	1	0	MYT1L	1893119	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.511000	0.81718	2.600000	0.87896	0.655000	0.94253	GGA	0	pfam_Znf_C2HC		0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	protein_coding	OTTHUMT00000322493.1	54	112	0	0.00	0	0	C	NM_015025	0	0		1914112	-1	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	22	87	42.11	30.95	16	39	SNP	1	T	T	1914112	C	T	1914112	3	4	97	1	0	0	0	0	1	0	0	0	10107	661	23	2	1895	2	MYT1L	2	1914112	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	476822	1914112	241285261	93	1292											
NT5C1B	93034	genome.wustl.edu	37	chr2	18765849	18765849	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcccagtaggcagcctcGtagtcgtcctcgtcctcccg	5	9	11	16	4	0	0	0	0	0	0	6	1	3	0	5	1	2	3	5	1	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:18765849G>A	ENST00000359846.2	-	5	911	c.834C>T	c.(832-834)taC>taT	p.Y278Y	NT5C1B-RDH14_ENST00000532967.1_Silent_p.Y278Y|NT5C1B_ENST00000304081.4_Silent_p.Y218Y|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Silent_p.Y278Y	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	278					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)	p.Y278Y(1)		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)				AGGCAGCCTCGTAGTCGTCCT	0.697																																							0											1	Substitution - coding silent(1)	large_intestine(1)											17	19	18					2																	18765849		2201	4300	6501	SO:0001819	synonymous_variant	0			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.834C>T	2.37:g.18765849G>A			B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	NULL	p.T196M	ENST00000359846.2	37	c.587	CCDS33150.1	2																																																																																			0	NULL		0.697	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	protein_coding	OTTHUMT00000323822.1	22	45	0	0.00	0	0	G		0	0		18765849	-1	no_errors	ENST00000406971	ensembl	human	known	74_37	missense	21	23	25	39.47	7	15	SNP	0	A	A	18765849	G	A	18765849	2	1	97	1	0	0	0	0	0	0	0	1	10686	1140	40	1		1	NT5C1B	2	18765849	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	16851737	18765849	224433524	94	1293											
NT5C1B	93034	genome.wustl.edu	37	chr2	18766070	18766070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgcattttggtgctgcGccgggagccaggatcgggct	4	11	15	11	3	1	0	0	0	1	0	2	2	1	2	2	4	4	3	2	4	0	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:18766070G>A	ENST00000359846.2	-	5	690	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R205C|NT5C1B_ENST00000304081.4_Missense_Mutation_p.R145C|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R205C	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	205					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)				TTGGTGCTGCGCCGGGAGCCA	0.711																																							0											0													17	20	19					2																	18766070		2196	4287	6483	SO:0001583	missense	0			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.613C>T	2.37:g.18766070G>A	ENSP00000352904:p.Arg205Cys		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	pfam_5-nucleotidase	p.R205C	ENST00000359846.2	37	c.613	CCDS33150.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944643	0.73672	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.91180	-2.8	4.21	2.35	0.29111	.	1.199420	0.06297	N	0.700229	D	0.90645	0.7066	L	0.29908	0.895	0.28971	N	0.889228	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P;P	0.62014	0.855;0.855;0.792;0.855;0.684;0.897;0.792;0.897	T	0.81470	-0.0918	10	0.87932	D	0	-9.5118	6.2754	0.20977	0.1015:0.0:0.7116:0.1869	.	188;222;145;188;147;145;205;205	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	C	205;147;145;205	ENSP00000412639:R147C	ENSP00000305979:R145C	R	-	1	0	NT5C1B-RDH14;NT5C1B	18629551	0.195000	0.23338	0.828000	0.32881	0.058000	0.15608	1.502000	0.35704	1.043000	0.40175	0.462000	0.41574	CGC	0	NULL		0.711	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	protein_coding	OTTHUMT00000323822.1	69	75	0	0.00	0	0	G		0	0		18766070	-1	no_errors	ENST00000359846	ensembl	human	known	74_37	missense	34	60	38.18	32.58	21	29	SNP	0.695	A	A	18766070	G	A	18766070	3	1	97	1	0	0	0	0	1	0	0	0	10686	1087	38	1	1243	1	NT5C1B	2	18766070	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	221	18766070	224433303	95	1294											
OTOF	9381	genome.wustl.edu	37	chr2	26700330	26700330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccggtcaagcctggtgCgggatgagtggccctggtcc	4	8	16	13	2	1	1	1	1	0	0	3	2	3	2	4	5	2	1	4	5	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:26700330C>T	ENST00000272371.2	-	20	2486	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H	OTOF_ENST00000403946.3_Missense_Mutation_p.R787H|OTOF_ENST00000339598.3_Missense_Mutation_p.R40H|OTOF_ENST00000338581.6_Missense_Mutation_p.R40H|OTOF_ENST00000402415.3_Missense_Mutation_p.R97H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	787					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)					AAGCCTGGTGCGGGATGAGTG	0.667																																					GBM(102;732 1451 20652 24062 31372)		0											0													35	34	34					2																	26700330		2171	4288	6459	SO:0001583	missense	0			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.2360G>A	2.37:g.26700330C>T	ENSP00000272371:p.Arg787His		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.R787H	ENST00000272371.2	37	c.2360	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272207	0.59649	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80824	-1.17;-1.17;-1.13;-1.42;-1.42	4.65	3.76	0.43208	.	0.122200	0.53938	D	0.000060	T	0.81479	0.4831	M	0.62723	1.935	0.45183	D	0.998198	P;P;D;P	0.69078	0.798;0.75;0.997;0.638	B;P;P;B	0.56042	0.138;0.482;0.79;0.299	T	0.77227	-0.2665	10	0.14656	T	0.56	-12.6998	9.2512	0.37555	0.0:0.8291:0.0:0.1709	.	787;40;97;40	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	H	40;40;97;787;787	ENSP00000345137:R40H;ENSP00000344521:R40H;ENSP00000383906:R97H;ENSP00000272371:R787H;ENSP00000385255:R787H	ENSP00000272371:R787H	R	-	2	0	OTOF	26553834	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.781000	0.55394	2.132000	0.65825	0.511000	0.50034	CGC	0	NULL		0.667	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	protein_coding	OTTHUMT00000214047.3	40	87	0	0.00	0	0	C		0	0		26700330	-1	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	15	62	40	26.74	10	23	SNP	0.944	T	T	26700330	C	T	26700330	3	4	97	1	0	0	0	0	1	0	0	0	11303	768	27	1	3926	1	OTOF	2	26700330	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7934260	26700330	216499043	96	1295											
KCNK3	3777	genome.wustl.edu	37	chr2	26950774	26950774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcacgctgtgcatcggcGccgccgccttctcccactac	5	8	9	19	5	2	0	1	0	1	0	4	0	2	0	4	1	3	3	4	1	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:26950774G>A	ENST00000302909.3	+	2	648	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	175					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GTGCATCGGCGCCGCCGCCTT	0.637																																					GBM(80;1457 1631 27100 45946)		0											0													60	54	56					2																	26950774		2203	4300	6503	SO:0001583	missense	0			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.523G>A	2.37:g.26950774G>A	ENSP00000306275:p.Ala175Thr		Q53SU2	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl	p.A175T	ENST00000302909.3	37	c.523	CCDS1727.1	2	.	.	.	.	.	.	.	.	.	.	g	26.7	4.763450	0.89932	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.33438	1.41	5.26	5.26	0.73747	Ion transport 2 (1);	0.055970	0.64402	D	0.000001	T	0.55257	0.1909	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.56086	-0.8037	10	0.56958	D	0.05	.	16.7244	0.85417	0.0:0.0:1.0:0.0	.	175	O14649	KCNK3_HUMAN	T	52;175	ENSP00000306275:A175T	ENSP00000306275:A175T	A	+	1	0	KCNK3	26804278	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.787000	0.99055	2.616000	0.88540	0.556000	0.70494	GCC	0	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK		0.637	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK3	protein_coding	OTTHUMT00000246861.2	15	15	0	0.00	0	0	G	NM_002246	0	0		26950774	1	no_errors	ENST00000302909	ensembl	human	known	74_37	missense	15	13	25	35.00	5	7	SNP	1	A	A	26950774	G	A	26950774	3	1	97	1	0	0	0	0	1	0	0	0	8067	1087	38	1	529	1	KCNK3	2	26950774	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	250444	26950774	216248599	97	1296											
AGBL5	60509	genome.wustl.edu	37	chr2	27281449	27281449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacaagaagaggggccttcGaactccacccaaaagtcaca	16	4	8	13	1	1	2	1	0	0	2	3	3	2	2	3	2	2	0	3	2	6	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:27281449G>A	ENST00000360131.4	+	10	2012	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	AGBL5-IT1_ENST00000411862.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.R618Q	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	618					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)					AGGGGCCTTCGAACTCCACCC	0.512																																							0											0													58	55	56					2																	27281449		2203	4300	6503	SO:0001583	missense	0			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.1853G>A	2.37:g.27281449G>A	ENSP00000353249:p.Arg618Gln		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.R618Q	ENST00000360131.4	37	c.1853	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752770	0.69648	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.15256	2.46;2.44	5.79	5.79	0.91817	.	0.188888	0.46145	D	0.000301	T	0.23926	0.0579	L	0.47716	1.5	0.09310	N	0.999997	D;D	0.56746	0.977;0.973	P;P	0.48189	0.57;0.544	T	0.09271	-1.0682	10	0.31617	T	0.26	-19.7323	17.813	0.88622	0.0:0.0:1.0:0.0	.	618;618	Q8NDL9;Q8NDL9-3	CBPC5_HUMAN;.	Q	618	ENSP00000323681:R618Q;ENSP00000353249:R618Q	ENSP00000323681:R618Q	R	+	2	0	AGBL5	27134953	0.765000	0.28485	0.598000	0.28837	0.608000	0.37181	2.462000	0.45049	2.733000	0.93635	0.655000	0.94253	CGA	0	NULL		0.512	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	protein_coding	OTTHUMT00000309033.1	31	222	0	0.00	0	0	G	NM_021831	0	0		27281449	1	no_errors	ENST00000360131	ensembl	human	known	74_37	missense	7	164	41.67	32.51	5	79	SNP	0.215	A	A	27281449	G	A	27281449	3	1	97	1	0	0	0	0	1	0	0	0	378	1058	37	2	1887	2	AGBL5	2	27281449	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	330675	27281449	215917924	98	1297											
EMILIN1	11117	genome.wustl.edu	37	chr2	27306067	27306067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggttgtgggccggctccAggatcgtgtggatgcccagg	6	8	18	9	2	0	1	0	0	0	1	2	3	1	3	3	6	1	2	3	6	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:27306067A>G	ENST00000380320.4	+	4	2127	c.1628A>G	c.(1627-1629)cAg>cGg	p.Q543R		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	543					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGGCTCCAGGATCGTGTG	0.672																																							0											0													34	34	34					2																	27306067		2203	4300	6503	SO:0001583	missense	0			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1628A>G	2.37:g.27306067A>G	ENSP00000369677:p.Gln543Arg		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.Q543R	ENST00000380320.4	37	c.1628	CCDS1733.1	2	.	.	.	.	.	.	.	.	.	.	A	0.044	-1.272839	0.01421	.	.	ENSG00000138080	ENST00000380320	T	0.61859	0.07	4.48	1.98	0.26296	.	0.710393	0.13057	N	0.417203	T	0.27866	0.0686	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17048	-1.0382	10	0.20046	T	0.44	-7.4525	5.2843	0.15692	0.7502:0.0:0.2498:0.0	.	543	Q9Y6C2	EMIL1_HUMAN	R	543	ENSP00000369677:Q543R	ENSP00000369677:Q543R	Q	+	2	0	EMILIN1	27159571	0.981000	0.34729	0.996000	0.52242	0.453000	0.32348	1.420000	0.34804	0.723000	0.32274	0.459000	0.35465	CAG	0	NULL		0.672	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN1	protein_coding	OTTHUMT00000214185.1	89	76	0	0.00	0	0	A	NM_007046	0	0		27306067	1	no_errors	ENST00000380320	ensembl	human	known	74_37	missense	58	71	23.68	24.47	18	23	SNP	0.266	G	G	27306067	A	G	27306067	3	3	97	1	0	0	0	0	1	0	0	0	5093	188	7	4	1642	4	EMILIN1	2	27306067	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	24618	27306067	215893306	99	1298											
SUPT7L	9913	genome.wustl.edu	37	chr2	27878452	27878453	+	Frame_Shift_Del	DEL	AG	AG	-																															acaatcctttcatattcttcAgagagttgcttactaatctg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:27878452_27878453delAG	ENST00000337768.5	-	5	1330_1331	c.761_762delCT	c.(760-762)tctfs	p.S254fs	SUPT7L_ENST00000405491.1_Frame_Shift_Del_p.S252fs|SUPT7L_ENST00000464789.2_Frame_Shift_Del_p.S252fs|SUPT7L_ENST00000406540.1_Frame_Shift_Del_p.S252fs|SUPT7L_ENST00000404798.2_Frame_Shift_Del_p.S119fs	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	254					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)					CATATTCTTCAGAGAGTTGCTT	0.436																																							0											0																																										SO:0001589	frameshift_variant	0			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.761_762delCT	2.37:g.27878456_27878457delAG	ENSP00000336750:p.Ser254fs		B4E3W3|Q6IB21|Q9H2T6	Frame_Shift_Del	DEL	pfam_BTP,smart_BTP	p.S254fs	ENST00000337768.5	37	c.762_761	CCDS42667.1	2																																																																																			0	NULL		0.436	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	protein_coding	OTTHUMT00000324568.1	29	247	0	0.00	0	0	AG	NM_014860	0	0		27878453	-1	no_errors	ENST00000337768	ensembl	human	known	74_37	frame_shift_del	19	167	32.14	29.83	9	71	DEL	0.940:1.000	0	-	27878453	AG	-	27878452	7	5	97	1	0	1	0	1	0	0	0	0	15398	175	7	0	490	0	SUPT7L	2	27878452	Frame_Shift_Del	DEL	AG	TCGA-ZB-A966-01A-11D-A428-09	572385	27878452	215320921	100	1299											
RASGRP3	25780	genome.wustl.edu	37	chr2	33749514	33749514	+	Frame_Shift_Del	DEL	A	A	-																															tgcagaagctccttcagctcAaaaattttaacaccctgatg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:33749514delA	ENST00000403687.3	+	9	1446	c.706delA	c.(706-708)aaafs	p.K236fs	RASGRP3_ENST00000407811.1_Frame_Shift_Del_p.K236fs|RASGRP3_ENST00000402538.3_Frame_Shift_Del_p.K236fs	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	236	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CCTTCAGCTCAAAAATTTTAA	0.353																																							0											0													51	49	49					2																	33749514		1820	4083	5903	SO:0001589	frameshift_variant	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.706delA	2.37:g.33749514delA	ENSP00000384192:p.Lys236fs		D6W583|O94931|Q53SD7	Frame_Shift_Del	DEL	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.N237fs	ENST00000403687.3	37	c.706	CCDS46256.1	2																																																																																			0	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.353	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	protein_coding	OTTHUMT00000325462.2	69	217	0	0.00	0	0	A	NM_015376	0	0		33749514	1	no_errors	ENST00000402538	ensembl	human	known	74_37	frame_shift_del	41	183	30.51	27.09	18	68	DEL	1	0	-	33749514	A	-	33749514	7	5	97	1	0	1	0	1	0	0	0	0	13076	131	5	0	732	0	RASGRP3	2	33749514	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	5871062	33749514	209449859	101	1300											
FAM98A	25940	genome.wustl.edu	37	chr2	33810307	33810307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaccatggtcatagcCaccacgtccacctctcccgc	7	7	7	20	3	2	0	1	0	1	0	5	0	3	0	7	2	1	0	7	2	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:33810307C>A	ENST00000238823.8	-	8	1233	c.1093G>T	c.(1093-1095)Ggc>Tgc	p.G365C	FAM98A_ENST00000441530.2_Missense_Mutation_p.G170C|FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	366	Gly-rich.						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)					TGGTCATAGCCACCACGTCCA	0.587																																							0											0													186	151	163					2																	33810307		2203	4300	6503	SO:0001583	missense	0				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.1093G>T	2.37:g.33810307C>A	ENSP00000238823:p.Gly365Cys		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.G365C	ENST00000238823.8	37	c.1093	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363952	0.24684	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;D	0.93366	0.6;-3.21	5.4	-0.6	0.11642	.	0.112095	0.64402	D	0.000012	T	0.80869	0.4706	N	0.08118	0	0.43448	D	0.995636	B;B;B;B	0.09022	0.0;0.0;0.002;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.001	T	0.66093	-0.6009	10	0.66056	D	0.02	-1.279	3.295	0.06963	0.1102:0.4763:0.2162:0.1973	.	366;196;365;203	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	C	365;366;170	ENSP00000238823:G365C;ENSP00000408716:G170C	ENSP00000238823:G365C	G	-	1	0	FAM98A	33663811	0.012000	0.17670	0.995000	0.50966	0.843000	0.47879	0.359000	0.20233	-0.032000	0.13758	0.313000	0.20887	GGC	0	NULL		0.587	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	protein_coding	OTTHUMT00000325457.2	40	134	0	0.00	0	0	C	NM_015475	0	0		33810307	-1	no_errors	ENST00000238823	ensembl	human	known	74_37	missense	24	130	17.24	31.94	5	61	SNP	0.979	A	A	33810307	C	A	33810307	3	1	97	1	0	0	0	0	1	0	0	0	5656	594	21	5	467	5	FAM98A	2	33810307	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	60793	33810307	209389066	102	1301											
HEATR5B	54497	genome.wustl.edu	37	chr2	37276898	37276898	+	Frame_Shift_Del	DEL	T	T	-																															ctgcacaacgtaagatggggTttgggttgtccagaggaccc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:37276898delT	ENST00000233099.5	-	18	2689	c.2594delA	c.(2593-2595)aacfs	p.N865fs	HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.N865fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	865						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)				TAAGATGGGGTTTGGGTTGTC	0.458																																							0											0													91	82	85					2																	37276898		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2594delA	2.37:g.37276898delT	ENSP00000233099:p.Asn865fs		B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.N865fs	ENST00000233099.5	37	c.2594	CCDS33181.1	2																																																																																			0	superfamily_ARM-type_fold		0.458	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	protein_coding	OTTHUMT00000325492.1	65	173	0	0.00	0	0	T	NM_019024	0	0		37276898	-1	no_errors	ENST00000233099	ensembl	human	known	74_37	frame_shift_del	47	178	29.85	28.51	20	71	DEL	1	0	-	37276898	T	-	37276898	7	5	97	1	0	1	0	1	0	0	0	0	7032	1725	60	0	3697	0	HEATR5B	2	37276898	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	3466591	37276898	205922475	103	1302											
PPM1B	5495	genome.wustl.edu	37	chr2	44428376	44428377	+	Frame_Shift_Del	DEL	AT	AT	-																															taaacccaaaactgaaaaacAtaatgctcatggtgctggga																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AT	AT	AT	-	AT	AT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:44428376_44428377delAT	ENST00000282412.4	+	2	450_451	c.38_39delAT	c.(37-39)catfs	p.H13fs	PPM1B_ENST00000409895.4_Frame_Shift_Del_p.H13fs|PPM1B_ENST00000378551.2_Frame_Shift_Del_p.H13fs|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_Frame_Shift_Del_p.H13fs|PPM1B_ENST00000345249.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	13					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)				ACTGAAAAACATAATGCTCATG	0.376																																							0											0																																										SO:0001589	frameshift_variant	0			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.38_39delAT	2.37:g.44428376_44428377delAT	ENSP00000282412:p.His13fs		Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Frame_Shift_Del	DEL	pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom	p.H13fs	ENST00000282412.4	37	c.38_39	CCDS1817.1	2																																																																																			0	superfamily_PP2C-like_dom,smart_PP2C-like_dom		0.376	PPM1B-001	KNOWN	basic|CCDS	protein_coding	PPM1B	protein_coding	OTTHUMT00000250672.1	112	277	0	0.00	0	0	AT	NM_002706	0	0		44428377	1	no_errors	ENST00000282412	ensembl	human	known	74_37	frame_shift_del	53	246	27.4	22.64	20	72	DEL	1.000:1.000	0	-	44428377	AT	-	44428376	7	5	97	1	0	1	0	1	0	0	0	0	12336	217	8	0	40	0	PPM1B	2	44428376	Frame_Shift_Del	DEL	AT	TCGA-ZB-A966-01A-11D-A428-09	7151478	44428376	198770997	104	1303											
PSME4	23198	genome.wustl.edu	37	chr2	54163925	54163925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccattgtgggagattttgCactgaaacccaaaggccaat	12	10	9	10	0	0	2	0	1	0	1	1	3	1	2	3	2	2	1	3	2	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:54163925C>T	ENST00000404125.1	-	6	790	c.735G>A	c.(733-735)gtG>gtA	p.V245V	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	245					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)			GGAGATTTTGCACTGAAACCC	0.363																																							0											0													112	120	117					2																	54163925		2203	4300	6503	SO:0001819	synonymous_variant	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.735G>A	2.37:g.54163925C>T			Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.V245	ENST00000404125.1	37	c.735	CCDS33197.2	2																																																																																			0	NULL		0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	protein_coding	OTTHUMT00000324163.1	308	273	0	0.00	0	0	C	XM_040158	0	0		54163925	-1	no_errors	ENST00000404125	ensembl	human	known	74_37	silent	190	220	29.37	31.79	79	103	SNP	0.998	T	T	54163925	C	T	54163925	2	4	97	1	0	0	0	0	0	0	0	1	12709	697	25	3		3	PSME4	2	54163925	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	9735549	54163925	189035448	105	1304											
C2orf73	129852	genome.wustl.edu	37	chr2	54587451	54587451	+	Frame_Shift_Del	DEL	A	A	-																															cacgttcatcagaacagtccAaaaaaacagagaaaggaaac																								rs185297941	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:54587451delA	ENST00000398634.2	+	5	658	c.616delA	c.(616-618)aaafs	p.K207fs	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	207										breast(2)	2						AGAACAGTCCAAAAAAACAGA	0.438																																							0											0													44	42	43					2																	54587451		1893	4112	6005	SO:0001589	frameshift_variant	0			BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.616delA	2.37:g.54587451delA	ENSP00000381631:p.Lys207fs		A0AV79|A0AV81|Q8N7V4	Frame_Shift_Del	DEL	NULL	p.T208fs	ENST00000398634.2	37	c.616	CCDS46285.1	2																																																																																			0	NULL		0.438	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf73	protein_coding	OTTHUMT00000324075.2	53	182	0	0.00	0	0	A	NM_001100396	0	0		54587451	1	no_errors	ENST00000398634	ensembl	human	known	74_37	frame_shift_del	34	202	34.62	17.55	18	43	DEL	0.824	0	-	54587451	A	-	54587451	7	5	97	1	0	1	0	1	0	0	0	0	2192	131	5	0	634	0	C2orf73	2	54587451	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	423526	54587451	188611922	106	1305											
DYSF	8291	genome.wustl.edu	37	chr2	71825779	71825779	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccccacctgggaccagacGctcatcttctacgagatcga	11	7	8	15	3	3	2	1	0	2	2	4	5	3	3	4	1	2	1	4	1	2	2	rs139897804		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:71825779G>A	ENST00000258104.3	+	33	3883	c.3606G>A	c.(3604-3606)acG>acA	p.T1202T	DYSF_ENST00000394120.2_Silent_p.T1203T|DYSF_ENST00000409762.1_Silent_p.T1219T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.T1202T|DYSF_ENST00000410020.3_Silent_p.T1220T|DYSF_ENST00000409366.1_Silent_p.T1203T|DYSF_ENST00000410041.1_Silent_p.T1220T|DYSF_ENST00000409744.1_Silent_p.T1189T|DYSF_ENST00000409582.3_Silent_p.T1219T|DYSF_ENST00000409651.1_Silent_p.T1234T|DYSF_ENST00000413539.2_Silent_p.T1233T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1202	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						GGGACCAGACGCTCATCTTCT	0.572																																							0											0								G	,,,,,,,,,,,,,	0,4406		0,0,2203	99	92	94		3609,3564,3564,3606,3699,3657,3657,3702,3609,3567,3660,3567,3660,3606	-11.3	0.2	2	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	,,,,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,,	1203/2082,1188/2067,1188/2088,1202/2102,1233/2112,1219/2098,1219/2119,1234/2113,1203/2103,1189/2089,1220/2099,1189/2068,1220/2120,1202/2081	71825779	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3606G>A	2.37:g.71825779G>A			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.T1233	ENST00000258104.3	37	c.3699	CCDS1918.1	2																																																																																			0	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	29	163	0	0.00	0	0	G	NM_003494	rs139897804	G->A		71825779	1	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	19	155	32.14	30.67	9	69	SNP	0.065	A	A	71825779	G	A	71825779	2	1	97	1	0	0	0	0	0	0	0	1	4859	1074	38	1		1	DYSF	2	71825779	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	17238328	71825779	171373594	107	1306											
TET3	200424	genome.wustl.edu	37	chr2	74274650	74274650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcacctccaccacaagCgcagcctcttcctagaacag	12	5	7	17	1	1	1	0	0	1	1	3	1	3	1	5	0	5	3	5	0	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:74274650C>T	ENST00000409262.3	+	1	1201	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	401					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						CCACCACAAGCGCAGCCTCTT	0.647																																							0											0													58	75	69					2																	74274650		2153	4264	6417	SO:0001583	missense	0				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.1201C>T	2.37:g.74274650C>T	ENSP00000386869:p.Arg401Cys		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.R401C	ENST00000409262.3	37	c.1201	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072808	0.55646	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.50813	0.73;1.82	5.29	5.29	0.74685	.	.	.	.	.	T	0.59211	0.2177	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.61297	-0.7091	9	0.59425	D	0.04	.	18.0716	0.89408	0.0:1.0:0.0:0.0	.	401	O43151	TET3_HUMAN	C	443;401;401	ENSP00000307803:R443C;ENSP00000386869:R401C	ENSP00000233310:R401C	R	+	1	0	TET3	74128158	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	3.498000	0.53302	2.635000	0.89317	0.561000	0.74099	CGC	0	NULL		0.647	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	33	111	0	0.00	0	0	C		0	0		74274650	1	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	20	72	33.33	24.21	10	23	SNP	1	T	T	74274650	C	T	74274650	3	4	97	1	0	0	0	0	1	0	0	0	15768	768	27	1	1203	1	TET3	2	74274650	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2448871	74274650	168924723	108	1307											
TET3	200424	genome.wustl.edu	37	chr2	74329152	74329152	+	Frame_Shift_Del	DEL	G	G	-																															ctacgggaagaagcgcaagtGggggggcactgtggttgctg																								rs190925009	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:74329152delG	ENST00000409262.3	+	9	4832	c.4832delG	c.(4831-4833)tggfs	p.W1611fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1611					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						AAGCGCAAGTGGGGGGGCACT	0.687																																							0											0													11	15	13					2																	74329152		2045	4166	6211	SO:0001589	frameshift_variant	0				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.4832delG	2.37:g.74329152delG	ENSP00000386869:p.Trp1611fs		A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Del	DEL	NULL	p.G1613fs	ENST00000409262.3	37	c.4832	CCDS46339.1	2																																																																																			0	NULL		0.687	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	16	20	0	0.00	0	0	G		0	0		74329152	1	no_errors	ENST00000409262	ensembl	human	known	74_37	frame_shift_del	6	18	45.45	28.00	5	7	DEL	1	0	-	74329152	G	-	74329152	7	5	97	1	0	1	0	1	0	0	0	0	15768	1357	47	0	4866	0	TET3	2	74329152	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	54502	74329152	168870221	109	1308											
SLC4A5	57835	genome.wustl.edu	37	chr2	74474314	74474314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtggagaagccctcctcGgtgaagcgggtgatatattt	9	10	15	7	2	0	3	0	2	0	1	2	4	1	3	2	4	2	0	2	4	4	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:74474314G>A	ENST00000377634.4	-	19	2307	c.1908C>T	c.(1906-1908)acC>acT	p.T636T	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Silent_p.T572T|SLC4A5_ENST00000423644.1_Silent_p.T636T|SLC4A5_ENST00000377632.1_Silent_p.T636T|SLC4A5_ENST00000394019.2_Silent_p.T636T|SLC4A5_ENST00000346834.4_Silent_p.T636T|SLC4A5_ENST00000358683.4_Silent_p.T572T|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Silent_p.T636T					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						AGCCCTCCTCGGTGAAGCGGG	0.488																																							0											0													195	194	194					2																	74474314		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1908C>T	2.37:g.74474314G>A				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.T636	ENST00000377634.4	37	c.1908	CCDS1936.1	2																																																																																			0	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk		0.488	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	protein_coding	OTTHUMT00000206583.3	39	140	0	0.00	0	0	G		0	0		74474314	-1	no_errors	ENST00000357822	ensembl	human	known	74_37	silent	33	101	19.51	23.88	8	32	SNP	0.026	A	A	74474314	G	A	74474314	2	1	97	1	0	0	0	0	0	0	0	1	14657	1103	39	2		2	SLC4A5	2	74474314	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	145162	74474314	168725059	110	1309											
SLC4A5	57835	genome.wustl.edu	37	chr2	74512935	74512935	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccatctggtctccgtcAtgctgcagagtatccatctc	7	12	7	15	1	4	1	1	0	3	1	8	1	6	1	3	1	2	3	3	1	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:74512935A>G	ENST00000377634.4	-	8	765	c.366T>C	c.(364-366)caT>caC	p.H122H	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Silent_p.H58H|SLC4A5_ENST00000423644.1_Silent_p.H122H|SLC4A5_ENST00000377632.1_Silent_p.H122H|SLC4A5_ENST00000394019.2_Silent_p.H122H|SLC4A5_ENST00000346834.4_Silent_p.H122H|SLC4A5_ENST00000358683.4_Silent_p.H58H|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Silent_p.H122H					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						GGTCTCCGTCATGCTGCAGAG	0.622																																							0											0													58	46	50					2																	74512935		2203	4300	6503	SO:0001819	synonymous_variant	0			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.366T>C	2.37:g.74512935A>G				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.H122	ENST00000377634.4	37	c.366	CCDS1936.1	2																																																																																			0	superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk		0.622	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	protein_coding	OTTHUMT00000206583.3	35	75	0	0.00	0	0	A		0	0		74512935	-1	no_errors	ENST00000357822	ensembl	human	known	74_37	silent	12	66	33.33	34.00	6	34	SNP	0.455	G	G	74512935	A	G	74512935	2	3	97	1	0	0	0	0	0	0	0	1	14657	214	8	3		3	SLC4A5	2	74512935	Silent	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	38621	74512935	168686438	111	1310											
TCF7L1	83439	genome.wustl.edu	37	chr2	85532524	85532524	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctgagccctgcagtgagCgtgtaagtaagcggcagcct	9	7	14	11	2	0	2	0	2	0	0	0	2	0	2	3	1	6	4	3	1	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:85532524C>T	ENST00000282111.3	+	8	1262	c.987C>T	c.(985-987)agC>agT	p.S329S		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	329					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						CTGCAGTGAGCGTGTAAGTAA	0.637																																							0											0													34	34	34					2																	85532524		2203	4300	6503	SO:0001819	synonymous_variant	0			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.987C>T	2.37:g.85532524C>T			Q53R97|Q6PD70|Q9NP00	Silent	SNP	pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S329	ENST00000282111.3	37	c.987	CCDS1971.1	2																																																																																			0	superfamily_HMG_box_dom		0.637	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	protein_coding	OTTHUMT00000252301.2	37	90	0	0.00	0	0	C	NM_031283	0	0		85532524	1	no_errors	ENST00000282111	ensembl	human	known	74_37	silent	16	45	46.67	27.42	14	17	SNP	1	T	T	85532524	C	T	85532524	2	4	97	1	0	0	0	0	0	0	0	1	15694	767	27	1		1	TCF7L1	2	85532524	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	11019589	85532524	157666849	112	1311											
TGOLN2	10618	genome.wustl.edu	37	chr2	85553754	85553756	+	In_Frame_Del	DEL	CTT	CTT	-																															ccgttcggataaaggtcatcCttctcgctacccgtggaatc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	CTT	CTT	CTT	-	CTT	CTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:85553754_85553756delCTT	ENST00000409232.3	-	2	1160_1162	c.1099_1101delAAG	c.(1099-1101)aagdel	p.K367del	TGOLN2_ENST00000282120.2_In_Frame_Del_p.K211del|TGOLN2_ENST00000398263.2_In_Frame_Del_p.K309del|TGOLN2_ENST00000377386.3_In_Frame_Del_p.K367del|TGOLN2_ENST00000444342.2_In_Frame_Del_p.K367del|TGOLN2_ENST00000409015.1_In_Frame_Del_p.K367del			O43493	TGON2_HUMAN	trans-golgi network protein 2	367						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											AAAGGTCATCCTTCTCGCTACCC	0.532																																							0											0																																										SO:0001651	inframe_deletion	0			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1099_1101delAAG	2.37:g.85553754_85553756delCTT	ENSP00000386443:p.Lys367del		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	In_Frame_Del	DEL	NULL	p.K367in_frame_del	ENST00000409232.3	37	c.1101_1099	CCDS56126.1	2																																																																																			0	NULL		0.532	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	protein_coding	OTTHUMT00000329045.2	44	233	0	0.00	0	0	CTT	NM_006464	0	0		85553756	-1	no_errors	ENST00000377386	ensembl	human	known	74_37	in_frame_del	23	148	30.3	26.00	10	52	DEL	0.005:0.004:0.001	0	-	85553756	CTT	-	85553754	7	5	97	1	0	1	0	1	0	0	0	0	15833	680	24	0	224	0	TGOLN2	2	85553754	In_Frame_Del	DEL	CTT	TCGA-ZB-A966-01A-11D-A428-09	21230	85553754	157645619	113	1312											
POLR1A	25885	genome.wustl.edu	37	chr2	86325826	86325826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagaggtgaatcacggcccGgggacaagtcagcatgtggc	11	6	15	9	2	2	2	2	1	0	1	2	3	2	3	1	5	1	1	1	5	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:86325826G>A	ENST00000263857.6	-	3	718	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	POLR1A_ENST00000409681.1_Missense_Mutation_p.R114W			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	114					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						ATCACGGCCCGGGGACAAGTC	0.507																																							0											0													102	106	105					2																	86325826		1949	4142	6091	SO:0001583	missense	0			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.340C>T	2.37:g.86325826G>A	ENSP00000263857:p.Arg114Trp		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_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.R114W	ENST00000263857.6	37	c.340	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947618	0.73787	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.23147	1.92;1.92	5.39	5.39	0.77823	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.70595	2.14	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.55503	-0.8131	10	0.72032	D	0.01	-29.7282	19.1526	0.93495	0.0:0.0:1.0:0.0	.	114;114	B9ZVN9;O95602	.;RPA1_HUMAN	W	114	ENSP00000263857:R114W;ENSP00000386300:R114W	ENSP00000263857:R114W	R	-	1	2	POLR1A	86179337	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.552000	0.60747	2.524000	0.85096	0.650000	0.86243	CGG	0	pfam_RNA_pol_Rpb1_1		0.507	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	protein_coding	OTTHUMT00000329830.2	42	156	0	0.00	0	0	G	NM_015425	0	0		86325826	-1	no_errors	ENST00000263857	ensembl	human	known	74_37	missense	45	154	28.57	26.76	18	57	SNP	0.998	A	A	86325826	G	A	86325826	3	1	97	1	0	0	0	0	1	0	0	0	12209	1115	39	2	4950	2	POLR1A	2	86325826	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	772072	86325826	156873547	114	1313											
UNC50	25972	genome.wustl.edu	37	chr2	99232795	99232795	+	Frame_Shift_Del	DEL	T	T	-																															cattttgcattttatccagcTttttttcatcaaccgtaagt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:99232795delT	ENST00000357765.2	+	4	679	c.527delT	c.(526-528)cttfs	p.L176fs	UNC50_ENST00000409975.1_Frame_Shift_Del_p.L193fs|UNC50_ENST00000409347.1_Frame_Shift_Del_p.L193fs	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	176					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTTATCCAGCTTTTTTTCATC	0.408																																							0											0													218	201	207					2																	99232795		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.527delT	2.37:g.99232795delT	ENSP00000350409:p.Leu176fs		D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Frame_Shift_Del	DEL	pfam_UNC-50	p.F195fs	ENST00000357765.2	37	c.578	CCDS2035.1	2																																																																																			0	pfam_UNC-50		0.408	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC50	protein_coding	OTTHUMT00000252987.1	104	247	0	0.00	0	0	T	NM_014044	0	0		99232795	1	no_errors	ENST00000409347	ensembl	human	known	74_37	frame_shift_del	59	226	24.36	28.03	19	88	DEL	0.997	0	-	99232795	T	-	99232795	7	5	97	1	0	1	0	1	0	0	0	0	16987	1609	56	0	537	0	UNC50	2	99232795	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	12906969	99232795	143966578	115	1314											
EIF5B	9669	genome.wustl.edu	37	chr2	100009524	100009524	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggctggtttacccctccTtgtggcttataaagaagatg	9	14	10	8	0	0	2	0	0	0	2	1	2	1	2	3	3	1	3	3	3	5	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:100009524T>G	ENST00000289371.6	+	18	3045	c.2843T>G	c.(2842-2844)cTt>cGt	p.L948R		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	948					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						TTACCCCTCCTTGTGGCTTAT	0.373																																					Colon(162;2388 2567 2705 3444)		0											0													84	89	87					2																	100009524		1800	4075	5875	SO:0001583	missense	0			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.2843T>G	2.37:g.100009524T>G	ENSP00000289371:p.Leu948Arg		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	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.L948R	ENST00000289371.6	37	c.2843	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	T	27.5	4.838314	0.91117	.	.	ENSG00000158417	ENST00000289371	T	0.51071	0.72	5.84	5.84	0.93424	.	.	.	.	.	T	0.53916	0.1826	N	0.25647	0.755	0.80722	D	1	D	0.59767	0.986	D	0.63877	0.919	T	0.50767	-0.8789	8	.	.	.	-10.6857	16.2167	0.82231	0.0:0.0:0.0:1.0	.	948	O60841	IF2P_HUMAN	R	948	ENSP00000289371:L948R	.	L	+	2	0	EIF5B	99375956	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	7.963000	0.87922	2.231000	0.72958	0.533000	0.62120	CTT	0	NULL		0.373	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	protein_coding	OTTHUMT00000330364.2	296	291	0	0.00	0	0	T	NM_015904	0	0		100009524	1	no_errors	ENST00000289371	ensembl	human	known	74_37	missense	148	224	26.6	28.21	54	88	SNP	1	G	G	100009524	T	G	100009524	3	3	97	1	0	0	0	0	1	0	0	0	5044	1609	56	5	2913	5	EIF5B	2	100009524	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	776729	100009524	143189849	116	1315											
RGPD4	285190	genome.wustl.edu	37	chr2	108443524	108443524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctccgtgcagggctccGccccgtcgcctcgaaaggtg	4	7	13	17	6	0	0	0	0	0	0	5	1	2	0	6	2	1	2	6	2	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:108443524G>A	ENST00000408999.3	+	1	132	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	AC096655.2_ENST00000457647.2_lincRNA|RGPD4_ENST00000354986.4_Missense_Mutation_p.A19T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	19					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAGGGCTCCGCCCCGTCGCC	0.711																																							0											0													41	61	55					2																	108443524		692	1590	2282	SO:0001583	missense	0			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.55G>A	2.37:g.108443524G>A	ENSP00000386810:p.Ala19Thr		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.A19T	ENST00000408999.3	37	c.55	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	2.675	-0.276682	0.05679	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.39406	1.08;1.08	2.33	1.42	0.22433	.	.	.	.	.	T	0.21307	0.0513	N	0.14661	0.345	0.09310	N	0.999993	B	0.26120	0.142	B	0.10450	0.005	T	0.18023	-1.0350	9	0.25106	T	0.35	0.0	6.4478	0.21885	0.1575:0.0:0.8425:0.0	.	19	Q7Z3J3	RGPD4_HUMAN	T	19	ENSP00000347081:A19T;ENSP00000386810:A19T	ENSP00000347081:A19T	A	+	1	0	RGPD4	107809956	0.043000	0.20138	0.078000	0.20375	0.008000	0.06430	1.422000	0.34826	0.098000	0.17522	-1.139000	0.01908	GCC	0	NULL		0.711	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	122	12	0	0.00	0	0	G	XM_496581	0	0		108443524	1	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	63	14	35.71	17.65	35	3	SNP	0.521	A	A	108443524	G	A	108443524	3	1	97	1	0	0	0	0	1	0	0	0	13288	1087	38	1	57	1	RGPD4	2	108443524	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	8434000	108443524	134755849	117	1316											
MERTK	10461	genome.wustl.edu	37	chr2	112751863	112751863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagttggccagaatggcagCcgagctcggatctctgttca	9	9	13	10	2	2	1	1	0	1	1	4	4	2	2	2	3	2	4	2	3	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:112751863C>T	ENST00000295408.4	+	9	1589	c.1332C>T	c.(1330-1332)agC>agT	p.S444S	MERTK_ENST00000409780.1_Silent_p.S268S|MERTK_ENST00000421804.2_Silent_p.S444S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	444	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						AGAATGGCAGCCGAGCTCGGA	0.527																																							0											0													121	119	120					2																	112751863		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1332C>T	2.37:g.112751863C>T			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.S444	ENST00000295408.4	37	c.1332	CCDS2094.1	2																																																																																			0	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	protein_coding	OTTHUMT00000254046.2	41	142	0	0.70	0	1	C		0	0		112751863	1	no_errors	ENST00000295408	ensembl	human	known	74_37	silent	23	110	25.81	32.52	8	53	SNP	0.944	T	T	112751863	C	T	112751863	2	4	97	1	0	0	0	0	0	0	0	1	9479	738	26	3		3	MERTK	2	112751863	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	4308339	112751863	130447510	118	1317											
MERTK	10461	genome.wustl.edu	37	chr2	112786161	112786161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctataattgcctcctgcaCtccccgcgctgccatcagtg	6	11	7	17	2	2	0	1	0	1	0	4	0	4	0	5	0	3	2	5	0	2	3	rs202205484		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:112786161C>T	ENST00000295408.4	+	19	2977	c.2720C>T	c.(2719-2721)aCt>aTt	p.T907I	MERTK_ENST00000409780.1_Missense_Mutation_p.T731I|MERTK_ENST00000421804.2_Missense_Mutation_p.T907I			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	907					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						GCCTCCTGCACTCCCCGCGCT	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		18656	0		0	False		,,,				2504	0						0.9998,0.0001997											0													134	132	132					2																	112786161		2203	4300	6503	SO:0001583	missense	0			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.2720C>T	2.37:g.112786161C>T	ENSP00000295408:p.Thr907Ile		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.T907I	ENST00000295408.4	37	c.2720	CCDS2094.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.274	0.050006	0.08243	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780;ENST00000449344	T;T;T;D	0.83837	-0.9;-0.9;-0.89;-1.77	5.62	0.605	0.17553	.	1.284160	0.06058	U	0.657807	T	0.76147	0.3947	L	0.36672	1.1	0.09310	N	1	B	0.22346	0.068	B	0.16722	0.016	T	0.60021	-0.7344	10	0.56958	D	0.05	-0.0532	9.1302	0.36841	0.0987:0.4507:0.3903:0.0603	.	907	Q12866	MERTK_HUMAN	I	907;907;731;231	ENSP00000295408:T907I;ENSP00000389152:T907I;ENSP00000387277:T731I;ENSP00000412660:T231I	ENSP00000295408:T907I	T	+	2	0	MERTK	112502632	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.106000	0.15354	-0.440000	0.07211	-0.795000	0.03280	ACT	0	superfamily_Rhodanese-like_dom		0.552	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	protein_coding	OTTHUMT00000254046.2	37	103	0	0.00	0	0	C		rs202205484	C->T		112786161	1	no_errors	ENST00000295408	ensembl	human	known	74_37	missense	23	111	17.86	17.78	5	24	SNP	0	T	T	112786161	C	T	112786161	3	4	97	1	0	0	0	0	1	0	0	0	9479	565	20	3	2794	3	MERTK	2	112786161	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	34298	112786161	130413212	119	1318											
WDR33	55339	genome.wustl.edu	37	chr2	128467396	128467396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctctggggggagcacGgccctcatgcctcggcgggg	3	7	16	15	3	2	0	1	0	1	0	4	1	3	1	4	7	2	1	4	7	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:128467396G>A	ENST00000322313.4	-	19	3501	c.3343C>T	c.(3343-3345)Cgt>Tgt	p.R1115C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1115					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGGAGCACGGCCCTCATGC	0.522																																							0											0													95	110	105					2																	128467396		2203	4300	6503	SO:0001583	missense	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3343C>T	2.37:g.128467396G>A	ENSP00000325377:p.Arg1115Cys		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1115C	ENST00000322313.4	37	c.3343	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432481	0.83776	.	.	ENSG00000136709	ENST00000322313	D	0.95171	-3.63	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.94379	0.7603	10	0.38643	T	0.18	-10.1911	18.9833	0.92762	0.0:0.0:1.0:0.0	.	1115	Q9C0J8	WDR33_HUMAN	C	1115	ENSP00000325377:R1115C	ENSP00000325377:R1115C	R	-	1	0	WDR33	128183866	1.000000	0.71417	0.994000	0.49952	0.829000	0.46940	7.585000	0.82584	2.493000	0.84123	0.561000	0.74099	CGT	0	NULL		0.522	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	protein_coding	OTTHUMT00000331141.2	29	160	0	0.00	0	0	G	NM_018383	0	0		128467396	-1	no_errors	ENST00000322313	ensembl	human	known	74_37	missense	14	128	44	27.27	11	48	SNP	1	A	A	128467396	G	A	128467396	3	1	97	1	0	0	0	0	1	0	0	0	17284	1116	39	2	683	2	WDR33	2	128467396	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	15681235	128467396	114731977	120	1319											
YSK4	80122	genome.wustl.edu	37	chr2	135744355	135744355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgacatttattggtgataCgtctgcctgatggagccgaa	10	12	11	8	3	1	2	0	2	1	0	2	5	1	3	2	2	3	0	2	2	3	4	rs368406495		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:135744355C>T	ENST00000375845.3	-	7	2117	c.2087G>A	c.(2086-2088)cGt>cAt	p.R696H	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R713H|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R583H|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	696							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ATTGGTGATACGTCTGCCTGA	0.408																																							0											0								C	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	184	172	176		,2087	3.9	0	2		176	0,8600		0,0,4300	no	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign	,696/1329	135744355	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2087G>A	2.37:g.135744355C>T	ENSP00000365005:p.Arg696His		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.R696H	ENST00000375845.3	37	c.2087	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	8.942	0.966170	0.18659	2.27E-4	0.0	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.73469	-0.58;-0.58;1.81;-0.75	5.67	3.87	0.44632	.	0.630733	0.15002	N	0.286058	T	0.52191	0.1719	N	0.08118	0	0.54753	D	0.999982	P;P;P	0.39181	0.663;0.663;0.533	B;B;B	0.32289	0.091;0.143;0.042	T	0.54070	-0.8348	10	0.66056	D	0.02	.	10.9869	0.47526	0.0:0.789:0.1406:0.0704	.	583;713;696	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	H	696;583;713;86	ENSP00000365005:R696H;ENSP00000351140:R583H;ENSP00000376647:R713H;ENSP00000392827:R86H	ENSP00000351140:R583H	R	-	2	0	YSK4	135460825	0.002000	0.14202	0.015000	0.15790	0.057000	0.15508	1.066000	0.30604	0.728000	0.32382	0.561000	0.74099	CGT	0	NULL		0.408	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	protein_coding	OTTHUMT00000158244.1	60	208	0	0.00	0	0	C	NM_025052	rs368406495	C->T		135744355	-1	no_errors	ENST00000375845	ensembl	human	known	74_37	missense	34	179	41.38	23.50	24	55	SNP	0.032	T	T	135744355	C	T	135744355	3	4	97	1	0	0	0	0	1	0	0	0	17492	536	19	1	1915	1	YSK4	2	135744355	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7276959	135744355	107455018	121	1320											
CCDC148	130940	genome.wustl.edu	37	chr2	159077217	159077217	+	Frame_Shift_Del	DEL	T	T	-																															tgttttttcttggcccagtaTttttttatctattgtataaa																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:159077217delT	ENST00000283233.5	-	11	1573	c.1260delA	c.(1258-1260)aaafs	p.K420fs	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Frame_Shift_Del_p.K429fs	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	420	Glu/Lys-rich.							p.K420fs*15(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGCCCAGTATTTTTTTATCT	0.318																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											75	69	71					2																	159077217		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1260delA	2.37:g.159077217delT	ENSP00000283233:p.Lys420fs		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Frame_Shift_Del	DEL	NULL	p.K420fs	ENST00000283233.5	37	c.1260	CCDS33304.1	2																																																																																			0	NULL		0.318	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	protein_coding	OTTHUMT00000333270.1	146	287	0	0.00	0	0	T	NM_138803	0	0		159077217	-1	no_errors	ENST00000283233	ensembl	human	known	74_37	frame_shift_del	57	217	33.72	30.00	29	93	DEL	1	0	-	159077217	T	-	159077217	7	5	97	1	0	1	0	1	0	0	0	0	2782	1490	52	0	531	0	CCDC148	2	159077217	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	23332862	159077217	84122156	122	1321											
SCN3A	6328	genome.wustl.edu	37	chr2	165947440	165947440	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccaacagatgggttcccAcagtctcccttaactgagct	10	10	7	14	0	1	2	0	1	1	1	4	2	3	2	3	1	3	2	3	1	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:165947440A>G	ENST00000360093.3	-	28	5714	c.5223T>C	c.(5221-5223)tgT>tgC	p.C1741C	SCN3A_ENST00000283254.7_Silent_p.C1741C|SCN3A_ENST00000540861.1_Silent_p.C224C|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Silent_p.C1692C|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1741				CGN -> RGD (in Ref. 2; AAK00219). {ECO:0000305}.	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)	ATGGGTTCCCACAGTCTCCCT	0.483																																							0											0													154	152	152					2																	165947440		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5223T>C	2.37:g.165947440A>G			Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	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.C1741	ENST00000360093.3	37	c.5223		2																																																																																			0	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.483	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	protein_coding		93	129	0	0.00	0	0	A	NM_006922	0	0		165947440	-1	no_errors	ENST00000283254	ensembl	human	known	74_37	silent	58	95	13.43	33.33	9	48	SNP	0.999	G	G	165947440	A	G	165947440	2	3	97	1	0	0	0	0	0	0	0	1	13918	157	6	3		3	SCN3A	2	165947440	Silent	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	6870223	165947440	77251933	123	1322											
XIRP2	129446	genome.wustl.edu	37	chr2	168099958	168099958	+	Frame_Shift_Del	DEL	G	G	-																															ctatcagtaaggacataactGggggggatgtcaagactgtg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:168099958delG	ENST00000409195.1	+	9	2145	c.2056delG	c.(2056-2058)gggfs	p.G687fs	XIRP2_ENST00000295237.9_Frame_Shift_Del_p.G687fs|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.G465fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	512					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						GGACATAACTGGGGGGGATGT	0.418																																							0											0													82	79	80					2																	168099958		1931	4141	6072	SO:0001589	frameshift_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2056delG	2.37:g.168099958delG	ENSP00000386840:p.Gly687fs		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Del	DEL	pfam_Actin-binding_Xin_repeat	p.D688fs	ENST00000409195.1	37	c.2056	CCDS42769.1	2																																																																																			0	NULL		0.418	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	45	181	0	0.55	0	1	G	NM_152381	0	0		168099958	1	no_errors	ENST00000295237	ensembl	human	known	74_37	frame_shift_del	21	185	38.24	28.29	13	73	DEL	0.997	0	-	168099958	G	-	168099958	7	5	97	1	0	1	0	1	0	0	0	0	17427	1348	47	0	2086	0	XIRP2	2	168099958	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	2152518	168099958	75099415	124	1323											
EVX2	344191	genome.wustl.edu	37	chr2	176947101	176947101	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgccgctgcctccgctGcctccatgcaggcttccgag	3	8	10	20	4	0	0	0	0	0	0	4	1	4	0	7	1	3	4	7	1	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:176947101G>A	ENST00000308618.4	-	2	640	c.504C>T	c.(502-504)ggC>ggT	p.G168G		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	168					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)		TGCCTCCGCTGCCTCCATGCA	0.716																																							0											0													13	15	14					2																	176947101		2052	4081	6133	SO:0001819	synonymous_variant	0				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.504C>T	2.37:g.176947101G>A				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa	p.G168	ENST00000308618.4	37	c.504	CCDS33333.1	2																																																																																			0	NULL		0.716	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	protein_coding	OTTHUMT00000359252.1	14	13	0	0.00	0	0	G		0	0		176947101	-1	no_errors	ENST00000308618	ensembl	human	known	74_37	silent	6	16	33.33	11.11	3	2	SNP	1	A	A	176947101	G	A	176947101	2	1	97	1	0	0	0	0	0	0	0	1	5295	1306	46	3		3	EVX2	2	176947101	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	8847143	176947101	66252272	125	1324											
PRKRA	8575	genome.wustl.edu	37	chr2	179300872	179300872	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaaaaaaaatcatacCtatatccaaatatgttatat	22	11	2	6	0	1	1	1	0	0	1	2	1	2	1	2	0	1	1	2	0	12	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:179300872C>A	ENST00000325748.4	-	7	984	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	PRKRA_ENST00000432031.2_Splice_Site_p.D251Y|AC009948.5_ENST00000454488.1_RNA|PRKRA_ENST00000438687.3_Splice_Site_p.D149Y|AC009948.5_ENST00000436616.2_RNA|AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000487082.1_Splice_Site_p.D237Y	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	262	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.|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)			AAAATCATACCTATATCCAAA	0.294																																					Melanoma(200;68 3001 23825 48764)		0											0													70	83	79					2																	179300872		2203	4299	6502	SO:0001630	splice_region_variant	0			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.784+1G>T	2.37:g.179300872C>A			A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.D262Y	ENST00000325748.4	37	c.784	CCDS2279.1	2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530245	0.85706	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.93	5.93	0.95920	Double-stranded RNA-binding (2);	0.127409	0.51477	D	0.000090	D	0.87569	0.6210	L	0.55481	1.735	0.58432	D	0.99999	D;P	0.58970	0.984;0.911	P;B	0.58873	0.847;0.264	D	0.86008	0.1499	9	.	.	.	.	17.2707	0.87101	0.0:1.0:0.0:0.0	.	262;251	O75569;O75569-2	PRKRA_HUMAN;.	Y	262;149;237;251	ENSP00000318176:D262Y;ENSP00000398980:D149Y;ENSP00000430604:D237Y;ENSP00000393883:D251Y	.	D	-	1	0	PRKRA	179009118	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.411000	0.73298	2.826000	0.97356	0.655000	0.94253	GAT	0	smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom		0.294	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRA	protein_coding	OTTHUMT00000255782.2	99	277	0	0.00	0	0	C	NM_003690	0	0	Missense_Mutation	179300872	-1	no_errors	ENST00000325748	ensembl	human	known	74_37	missense	41	232	37.88	23.10	25	70	SNP	1	A	A	179300872	C	A	179300872	5	1	97	1	0	0	0	0	0	0	1	0	12524	695	24	5	165	5	PRKRA	2	179300872	Splice_Site	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2353771	179300872	63898501	126	1325											
FSIP2	401024	genome.wustl.edu	37	chr2	186665038	186665039	+	Frame_Shift_Ins	INS	-	-	A																															acaaattggtcaactttttcINSaaaaaaataagttaagttat																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:186665038_186665039insA	ENST00000424728.1	+	17	11005_11006	c.11005_11006insA	c.(11005-11007)caafs	p.Q3669fs	FSIP2_ENST00000343098.5_Frame_Shift_Ins_p.Q3758fs|AC008174.3_ENST00000429929.1_RNA|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3669										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCAACTTTTTCAAAAAAATAAG	0.322																																							0											0																																										SO:0001589	frameshift_variant	0			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.11012dupA	2.37:g.186665045_186665045dupA	ENSP00000401306:p.Gln3669fs		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Ins	INS	NULL	p.N3760fs	ENST00000424728.1	37	c.11272_11273		2																																																																																			0	NULL		0.322	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	163	245	0	0.00	0	0	0	NM_173651	0	0		186665039	1	no_errors	ENST00000343098	ensembl	human	known	74_37	frame_shift_ins	95	223	22.13	28.98	27	91	INS	0.256:0.278	A	A	186665039	-	A	186665038	7	5	97	1	0	1	1	0	0	0	0	0	6075	827	29	0	11338	0	FSIP2	2	186665038	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	7364166	186665038	56534335	127	1326											
CCDC150	284992	genome.wustl.edu	37	chr2	197565893	197565893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaactggcctatgaaaacGgaaaactccaggtatgagat	17	8	9	7	1	0	2	0	2	0	1	1	4	1	3	2	3	3	1	2	3	8	3	rs200176761		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:197565893G>A	ENST00000389175.4	+	15	1819	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	CCDC150_ENST00000272831.7_Missense_Mutation_p.G230R	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	562										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTATGAAAACGGAAAACTCCA	0.323																																							0											0								G	ARG/GLY	1,3593		0,1,1796	58	50	53		1684	5.1	1	2		53	0,8124		0,0,4062	yes	missense	CCDC150	NM_001080539.1	125	0,1,5858	AA,AG,GG		0.0,0.0278,0.0085	probably-damaging	562/1102	197565893	1,11717	1797	4062	5859	SO:0001583	missense	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1684G>A	2.37:g.197565893G>A	ENSP00000373827:p.Gly562Arg		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.G562R	ENST00000389175.4	37	c.1684	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846774	0.71603	2.78E-4	0.0	ENSG00000144395	ENST00000272831;ENST00000389175	T	0.79352	-1.26	5.08	5.08	0.68730	.	0.138202	0.46758	N	0.000278	D	0.84520	0.5490	M	0.64997	1.995	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	0.79888	-0.1613	10	0.18710	T	0.47	-18.9211	14.1695	0.65500	0.0:0.0:1.0:0.0	.	36;230;562	B4DWS7;B4DZ03;Q8NCX0	.;.;CC150_HUMAN	R	230;562	ENSP00000373827:G562R	ENSP00000272831:G230R	G	+	1	0	CCDC150	197274138	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	4.491000	0.60326	2.802000	0.96397	0.655000	0.94253	GGA	0	NULL		0.323	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	protein_coding	OTTHUMT00000335377.2	161	303	0.62	0.00	1	0	G	NM_001080539	rs200176761	G->A		197565893	1	no_errors	ENST00000389175	ensembl	human	known	74_37	missense	87	261	21.62	30.13	24	113	SNP	0.997	A	A	197565893	G	A	197565893	3	1	97	1	0	0	0	0	1	0	0	0	2785	1117	39	2	1742	2	CCDC150	2	197565893	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	10900855	197565893	45633480	128	1327											
PTH2R	5746	genome.wustl.edu	37	chr2	209315497	209315497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcagcatttgttgcaGcatgggctgtggcacgagca	8	10	13	10	1	0	0	0	0	0	0	1	1	1	0	1	2	5	8	1	2	0	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:209315497G>A	ENST00000272847.2	+	8	1090	c.877G>A	c.(877-879)Gca>Aca	p.A293T	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	293					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)	ATTTGTTGCAGCATGGGCTGT	0.438																																							0											0													100	112	108					2																	209315497		2203	4300	6503	SO:0001583	missense	0			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.877G>A	2.37:g.209315497G>A	ENSP00000272847:p.Ala293Thr		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.A293T	ENST00000272847.2	37	c.877	CCDS2383.1	2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619742	0.46736	.	.	ENSG00000144407	ENST00000272847	T	0.37058	1.22	5.86	5.86	0.93980	GPCR, family 2-like (1);	0.304707	0.22651	N	0.057338	T	0.28830	0.0715	L	0.28192	0.835	0.43279	D	0.995249	B;B	0.14805	0.011;0.005	B;B	0.19946	0.015;0.027	T	0.04065	-1.0980	10	0.27082	T	0.32	.	15.6987	0.77521	0.0:0.0:1.0:0.0	.	182;293	B4DFN8;P49190	.;PTH2R_HUMAN	T	293	ENSP00000272847:A293T	ENSP00000272847:A293T	A	+	1	0	PTH2R	209023742	0.759000	0.28416	0.988000	0.46212	0.870000	0.49936	2.797000	0.47877	2.781000	0.95711	0.650000	0.86243	GCA	0	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.438	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	protein_coding	OTTHUMT00000256519.2	91	161	0	0.00	0	0	G	NM_005048	0	0		209315497	1	no_errors	ENST00000272847	ensembl	human	known	74_37	missense	53	119	22.06	28.74	15	48	SNP	0.989	A	A	209315497	G	A	209315497	3	1	97	1	0	0	0	0	1	0	0	0	12760	971	34	3	907	3	PTH2R	2	209315497	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	11749604	209315497	33883876	129	1328											
SMARCAL1	50485	genome.wustl.edu	37	chr2	217300192	217300192	+	Frame_Shift_Del	DEL	A	A	-																															agcaagttggaaaaacagctAaaaaccccttttaaagttgt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:217300192delA	ENST00000357276.4	+	9	1947	c.1617delA	c.(1615-1617)ctafs	p.L539fs	SMARCAL1_ENST00000358207.5_Frame_Shift_Del_p.L539fs	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	539	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		AAAAACAGCTAAAAACCCCTT	0.408									Schimke Immuno-Osseous Dysplasia																														0											0													97	99	98					2																	217300192		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	SIOD	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.1617delA	2.37:g.217300192delA	ENSP00000349823:p.Leu539fs		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Frame_Shift_Del	DEL	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.T541fs	ENST00000357276.4	37	c.1617	CCDS2403.1	2																																																																																			0	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.408	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	protein_coding	OTTHUMT00000256671.2	81	288	0	0.35	0	1	A		0	0		217300192	1	no_errors	ENST00000357276	ensembl	human	known	74_37	frame_shift_del	58	268	20.55	26.58	15	97	DEL	0	0	-	217300192	A	-	217300192	7	5	97	1	0	1	0	1	0	0	0	0	14773	349	13	0	1643	0	SMARCAL1	2	217300192	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	7984695	217300192	25899181	130	1329											
TMBIM1	64114	genome.wustl.edu	37	chr2	219143774	219143777	+	Frame_Shift_Del	DEL	AGAC	AGAC	-																															cactcactaggacacgtagtAgacagccacatttctcctca																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AGAC	AGAC	AGAC	-	AGAC	AGAC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:219143774_219143777delAGAC	ENST00000444881.1	-	6	1131_1134	c.406_409delGTCT	c.(406-411)gtctacfs	p.VY136fs	TMBIM1_ENST00000258412.3_Frame_Shift_Del_p.VY136fs|TMBIM1_ENST00000445635.1_5'UTR|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000396809.2_Frame_Shift_Del_p.VY136fs|PNKD_ENST00000472650.1_Intron			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	136					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)	p.V136I(1)		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)		GACACGTAGTAGACAGCCACATTT	0.598																																							0											1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			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.406_409delGTCT	2.37:g.219143774_219143777delAGAC	ENSP00000409738:p.Val136fs		B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Frame_Shift_Del	DEL	pfam_Bax_inhibitor_1-related	p.V136fs	ENST00000444881.1	37	c.409_406	CCDS2412.1	2																																																																																			0	pfam_Bax_inhibitor_1-related		0.598	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMBIM1	protein_coding	OTTHUMT00000338559.1	31	145	0	0.00	0	0	AGAC	NM_022152	0	0		219143777	-1	no_errors	ENST00000258412	ensembl	human	known	74_37	frame_shift_del	21	129	16	20.37	4	33	DEL	0.998:0.324:0.373:0.084	0	-	219143777	AGAC	-	219143774	7	5	97	1	0	1	0	1	0	0	0	0	15978	420	15	0	558	0	TMBIM1	2	219143774	Frame_Shift_Del	DEL	AGAC	TCGA-ZB-A966-01A-11D-A428-09	1843582	219143774	24055599	131	1330											
IRS1	3667	genome.wustl.edu	37	chr2	227661663	227661664	+	Frame_Shift_Ins	INS	-	-	CC																															gagctgtctgggcggtggtgINSccccccccgacgctccaagg																								rs552502879		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	CC	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:227661663_227661664insCC	ENST00000305123.5	-	1	2811_2812	c.1791_1792insGG	c.(1789-1794)gggcacfs	p.H598fs	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	598					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.H598fs*13(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)		GGGCGGTGGTGCCCCCCCCGAC	0.683											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											1	Insertion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0				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.1790_1791dupGG	2.37:g.227661670_227661671dupCC	ENSP00000304895:p.His598fs	2321		Frame_Shift_Ins	INS	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.H597fs	ENST00000305123.5	37	c.1792_1791	CCDS2463.1	2																																																																																			0	NULL		0.683	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	protein_coding	OTTHUMT00000256886.3	63	49	0	0.00	0	0	0	NM_005544	0	0		227661664	-1	no_errors	ENST00000305123	ensembl	human	known	74_37	frame_shift_ins	27	85	25	14.14	9	14	INS	1.000:0.995	CC	CC	227661664	-	CC	227661663	7	5	97	1	0	1	1	0	0	0	0	0	7840	1319	46	0	1940	0	IRS1	2	227661663	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	8517889	227661663	15537710	132	1331											
ITM2C	81618	genome.wustl.edu	37	chr2	231741651	231741651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccattgtgctgccccctcGcaacttctgggagctcctca	6	10	8	17	1	2	0	1	0	1	0	4	1	3	1	4	1	4	3	4	1	1	2	rs199999372	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:231741651G>A	ENST00000326427.6	+	4	656	c.530G>A	c.(529-531)cGc>cAc	p.R177H	ITM2C_ENST00000409704.2_Missense_Mutation_p.R115H|ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000335005.6_Missense_Mutation_p.R130H|ITM2C_ENST00000326407.6_Intron	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	177	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		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;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTGCCCCCTCGCAACTTCTGG	0.587													G|||	2	0.000399361	0	0	5008	,	,		19950	0.002		0	False		,,,				2504	0						0											0								G	HIS/ARG,,HIS/ARG	0,4406		0,0,2203	132	126	128		389,,530	5.8	0.8	2		128	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	ITM2C	NM_001012514.1,NM_001012516.1,NM_030926.4	29,,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	130/221,,177/268	231741651	1,13005	2203	4300	6503	SO:0001583	missense	0			AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"BRICHOS domain containing"	6175	protein-coding gene	gene with protein product	"BRICHOS domain containing 2C"	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.530G>A	2.37:g.231741651G>A	ENSP00000322730:p.Arg177His		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.R177H	ENST00000326427.6	37	c.530	CCDS2479.1	2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	32	5.137396	0.94517	0.0	1.16E-4	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.8	5.8	0.92144	BRICHOS (2);	0.000000	0.85682	D	0.000000	D	0.87305	0.6144	L	0.56199	1.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.966;0.999	D	0.87077	0.2163	10	0.54805	T	0.06	-12.482	15.5631	0.76266	0.0:0.0:1.0:0.0	.	130;177	Q9NQX7-2;Q9NQX7	.;ITM2C_HUMAN	H	177;115;177;130;115;115;115	ENSP00000390655:R177H;ENSP00000440295:R115H;ENSP00000322730:R177H;ENSP00000335121:R130H;ENSP00000444899:R115H;ENSP00000387242:R115H;ENSP00000403257:R115H	ENSP00000322730:R177H	R	+	2	0	ITM2C	231449895	0.998000	0.40836	0.808000	0.32385	0.994000	0.84299	5.392000	0.66272	2.735000	0.93741	0.655000	0.94253	CGC	0	pfam_BRICHOS_dom,pfscan_BRICHOS_dom		0.587	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITM2C	protein_coding	OTTHUMT00000256954.2	32	131	0	0.76	0	1	G	NM_030926	rs199999372	G->A		231741651	1	no_errors	ENST00000326427	ensembl	human	known	74_37	missense	19	140	24	20.90	6	37	SNP	0.915	A	A	231741651	G	A	231741651	3	1	97	1	0	0	0	0	1	0	0	0	7914	1087	38	1	544	1	ITM2C	2	231741651	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	4079988	231741651	11457722	133	1332											
ALPPL2	251	genome.wustl.edu	37	chr2	233274420	233274420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagaccttcatagcgcaCgtcatggccttcgccgcctg	7	8	11	15	4	2	1	2	0	0	1	3	2	2	1	4	1	2	2	4	1	1	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:233274420C>T	ENST00000295453.3	+	11	1489	c.1437C>T	c.(1435-1437)caC>caT	p.H479H		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	479					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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)	Amifostine(DB01143)	TCATAGCGCACGTCATGGCCT	0.746																																							0											0													15	19	17					2																	233274420		2185	4280	6465	SO:0001819	synonymous_variant	0			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1437C>T	2.37:g.233274420C>T			A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.H479	ENST00000295453.3	37	c.1437	CCDS2491.1	2																																																																																			0	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.746	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPPL2	protein_coding	OTTHUMT00000257034.2	32	29	0	0.00	0	0	C	NM_031313	0	0		233274420	1	no_errors	ENST00000295453	ensembl	human	known	74_37	silent	16	20	23.81	33.33	5	10	SNP	0.997	T	T	233274420	C	T	233274420	2	4	97	1	0	0	0	0	0	0	0	1	549	535	19	1		1	ALPPL2	2	233274420	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1532769	233274420	9924953	134	1333											
AGAP1	116987	genome.wustl.edu	37	chr2	236653408	236653408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaataagtttccagaccGtttaccactactacagtcga	14	11	6	10	2	0	2	0	1	0	1	2	3	1	2	3	0	3	2	3	0	5	6	rs200676786	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:236653408G>A	ENST00000304032.8	+	5	1043	c.463G>A	c.(463-465)Gtt>Att	p.V155I	AGAP1_ENST00000428334.2_5'UTR|AGAP1_ENST00000409538.1_Missense_Mutation_p.V420I|AGAP1_ENST00000409457.1_Missense_Mutation_p.V155I|AGAP1_ENST00000336665.5_Missense_Mutation_p.V155I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	155	Small GTPase-like.				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						TTTCCAGACCGTTTACCACTA	0.502													G|||	2	0.000399361	0.0015	0	5008	,	,		18806	0		0	False		,,,				2504	0						0											0								G	ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	143	128	133		463,463	5.4	0	2		133	0,8600		0,0,4300	no	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	155/858,155/805	236653408	2,13004	2203	4300	6503	SO:0001583	missense	0			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.463G>A	2.37:g.236653408G>A	ENSP00000307634:p.Val155Ile		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.V155I	ENST00000304032.8	37	c.463	CCDS33408.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.6	4.305165	0.81247	4.54E-4	0.0	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.36	5.36	0.76844	Mitochondrial Rho-like (1);	0.073044	0.53938	D	0.000050	T	0.65365	0.2684	L	0.27944	0.81	0.80722	D	1	P;P	0.39551	0.678;0.636	B;B	0.37943	0.261;0.151	T	0.65183	-0.6230	10	0.33141	T	0.24	.	19.0839	0.93194	0.0:0.0:1.0:0.0	.	155;155	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	I	155;155;155;102;420	ENSP00000387174:V155I;ENSP00000307634:V155I;ENSP00000338378:V155I;ENSP00000385492:V102I;ENSP00000386897:V420I	ENSP00000307634:V155I	V	+	1	0	AGAP1	236318147	1.000000	0.71417	0.027000	0.17364	0.902000	0.53008	9.751000	0.98889	2.513000	0.84729	0.650000	0.86243	GTT	0	pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.502	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	protein_coding	OTTHUMT00000257076.2	71	180	0	0.00	0	0	G	NM_014914	rs200676786	G->A		236653408	1	no_errors	ENST00000304032	ensembl	human	known	74_37	missense	45	141	32.84	24.60	22	46	SNP	0.994	A	A	236653408	G	A	236653408	3	1	97	1	0	0	0	0	1	0	0	0	366	1145	40	1	481	1	AGAP1	2	236653408	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3378988	236653408	6545965	135	1334											
ING5	84289	genome.wustl.edu	37	chr2	242648685	242648685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatctccacggtgaagaCgctgtctccagaccagcgcg	9	7	11	14	4	2	3	0	1	2	2	4	3	2	3	3	1	2	2	3	1	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:242648685C>T	ENST00000313552.6	+	3	190	c.164C>T	c.(163-165)aCg>aTg	p.T55M	ING5_ENST00000406941.1_Missense_Mutation_p.T55M|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	55					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		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;2.16e-33)|all cancers(36;4.99e-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;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		ACGGTGAAGACGCTGTCTCCA	0.537																																							0											0													141	140	140					2																	242648685		2203	4296	6499	SO:0001583	missense	0			AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"Zinc fingers, PHD-type"	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.164C>T	2.37:g.242648685C>T	ENSP00000322142:p.Thr55Met		A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T55M	ENST00000313552.6	37	c.164	CCDS33425.1	2	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255387	0.59321	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.54	3.55	0.40652	Inhibitor of growth protein, N-terminal (1);	0.281864	0.38111	N	0.001820	T	0.46541	0.1398	L	0.39898	1.24	0.25285	N	0.989403	P;D	0.65815	0.86;0.995	P;P	0.59595	0.713;0.86	T	0.23976	-1.0173	9	0.66056	D	0.02	-12.7656	8.6813	0.34209	0.3629:0.4561:0.181:0.0	.	55;55	Q8WYH8;B7Z6R2	ING5_HUMAN;.	M	55	.	ENSP00000322142:T55M	T	+	2	0	ING5	242297358	0.921000	0.31238	0.644000	0.29465	0.627000	0.37826	1.957000	0.40392	2.616000	0.88540	0.591000	0.81541	ACG	0	NULL		0.537	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING5	protein_coding	OTTHUMT00000322901.3	25	101	0	0.00	0	0	C	NM_032329	0	0		242648685	1	no_errors	ENST00000313552	ensembl	human	known	74_37	missense	12	61	29.41	31.46	5	28	SNP	0.725	T	T	242648685	C	T	242648685	3	4	97	1	0	0	0	0	1	0	0	0	7739	536	19	1	174	1	ING5	2	242648685	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	5995277	242648685	550688	136	1335											
C3orf19	51244	genome.wustl.edu	37	chr3	14711556	14711556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggaaggacaccaagccTggagtgccacacatccggga	13	3	14	11	1	0	1	0	0	0	1	1	6	1	5	4	4	2	0	4	4	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:14711556T>C	ENST00000383794.3	+	10	1141	c.1068T>C	c.(1066-1068)ccT>ccC	p.P356P	CCDC174_ENST00000303688.7_Silent_p.P280P|CCDC174_ENST00000476763.1_3'UTR	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	356						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACACCAAGCCTGGAGTGCCAC	0.552																																							0											0													67	57	60					3																	14711556		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 19"	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.1068T>C	3.37:g.14711556T>C			Q96CS5	Silent	SNP	NULL	p.P356	ENST00000383794.3	37	c.1068	CCDS2620.2	3																																																																																			0	NULL		0.552	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC174	protein_coding	OTTHUMT00000252077.2	30	165	0	0.00	0	0	T	NM_016474	0	0		14711556	1	no_errors	ENST00000383794	ensembl	human	known	74_37	silent	8	68	55.56	48.51	10	65	SNP	0.023	C	C	14711556	T	C	14711556	2	2	97	1	0	0	0	0	0	0	0	1	2212	1567	55	4		4	C3orf19	3	14711556	Silent	SNP	T	TCGA-ZB-A966-01A-11D-A428-09		14711556	183310874	137	1336											
EFHB	151651	genome.wustl.edu	37	chr3	19924092	19924092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcaaacactcctttccGggcaaaaatggtaggatata	13	12	7	9	1	2	0	1	0	1	0	4	1	4	1	2	3	1	2	2	3	6	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:19924092G>A	ENST00000295824.9	-	12	2439	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	EFHB_ENST00000344838.4_Missense_Mutation_p.R630W	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	760							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ACTCCTTTCCGGGCAAAAATG	0.383																																							0											0													58	52	54					3																	19924092		2203	4300	6503	SO:0001583	missense	0			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2278C>T	3.37:g.19924092G>A	ENSP00000295824:p.Arg760Trp		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R760W	ENST00000295824.9	37	c.2278	CCDS33715.2	3	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467261	0.43839	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.23754	3.15;1.89	5.55	3.6	0.41247	.	0.225560	0.39407	N	0.001372	T	0.20333	0.0489	N	0.24115	0.695	0.23082	N	0.998326	D;D	0.55385	0.969;0.971	P;B	0.46975	0.533;0.216	T	0.06552	-1.0820	9	.	.	.	-9.0611	11.3945	0.49834	0.0:0.1198:0.6334:0.2468	.	630;760	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	W	760;630	ENSP00000295824:R760W;ENSP00000342263:R630W	.	R	-	1	2	EFHB	19899096	0.986000	0.35501	0.912000	0.35992	0.066000	0.16364	1.450000	0.35134	1.417000	0.47077	0.655000	0.94253	CGG	0	NULL		0.383	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHB	protein_coding	OTTHUMT00000318673.2	97	248	0	0.00	0	0	G	NM_144715	0	0		19924092	-1	no_errors	ENST00000295824	ensembl	human	known	74_37	missense	20	124	53.49	43.38	23	95	SNP	0.964	A	A	19924092	G	A	19924092	3	1	97	1	0	0	0	0	1	0	0	0	4945	1115	39	2	231	2	EFHB	3	19924092	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	5212536	19924092	178098338	138	1337											
MLH1	4292	genome.wustl.edu	37	chr3	37035147	37035147	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctatcaaagagatgattGagaactggtacggagggagt	14	9	14	4	1	1	3	1	2	0	2	1	7	1	5	0	3	3	2	0	3	4	3	rs63751012		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:37035147G>T	ENST00000231790.2	+	1	325	c.109G>T	c.(109-111)Gag>Tag	p.E37*	EPM2AIP1_ENST00000322716.5_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	37			E -> ELNH (found in an endometrial cancer sample; somatic mutation).		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)			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						AGAGATGATTGAGAACTGGTA	0.607		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																														0	yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	0			GRCh37	CM055990	MLH1	M							54	56	55					3																	37035147		2203	4300	6503	SO:0001587	stop_gained	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	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.109G>T	3.37:g.37035147G>T	ENSP00000231790:p.Glu37*		B4DI13|B4DQ11|E9PCU2	Nonsense_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.E37*	ENST00000231790.2	37	c.109	CCDS2663.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.426190|6.426190	0.97559|0.97559	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937|ENST00000456676	.|.	.|.	.|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.117201|.	0.64402|.	D|.	0.000019|.	.|T	.|0.75488	.|0.3856	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72462	.|-0.4286	.|4	0.87932|.	D|.	0|.	-23.2581|-23.2581	19.2211|19.2211	0.93797|0.93797	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs63751012|rs63751012	.|.	.|.	.|.	X|F	37;3;3|28	.|.	ENSP00000231790:E37X|.	E|L	+|+	1|3	0|2	MLH1|MLH1	37010151|37010151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.788000|8.788000	0.91834|0.91834	2.838000|2.838000	0.97847|0.97847	0.563000|0.563000	0.77884|0.77884	GAG|TTG	0	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N		0.607	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	protein_coding	OTTHUMT00000253337.2	111	101	0	0.00	0	0	G	NM_000249	rs63751012	G->A,T		37035147	1	no_errors	ENST00000231790	ensembl	human	known	74_37	nonsense	32	59	34.69	40.40	17	40	SNP	1	T	T	37035147	G	T	37035147	4	4	97	1	0	0	0	0	0	1	0	0	9617	1291	45	5	111	5	MLH1	3	37035147	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	17111055	37035147	160987283	139	1338											
SLC22A13	9390	genome.wustl.edu	37	chr3	38307356	38307356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgactggcatacatggCtcagtttgtccaggtcctgg	7	12	13	9	0	1	1	1	1	0	0	3	1	3	1	2	4	1	4	2	4	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:38307356C>T	ENST00000311856.4	+	1	54	c.5C>T	c.(4-6)gCt>gTt	p.A2V	SLC22A13_ENST00000450935.2_5'Flank	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	2					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GCATACATGGCTCAGTTTGTC	0.527																																							0											0													154	128	137					3																	38307356		2203	4300	6503	SO:0001583	missense	0			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.5C>T	3.37:g.38307356C>T	ENSP00000310241:p.Ala2Val		B2RCV9|Q8IYG1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A2V	ENST00000311856.4	37	c.5	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	.	8.885	0.952549	0.18431	.	.	ENSG00000172940	ENST00000311856	T	0.64618	-0.11	4.71	2.9	0.33743	Major facilitator superfamily domain, general substrate transporter (1);	0.496053	0.21804	N	0.068865	T	0.44993	0.1320	L	0.41356	1.27	0.50632	D	0.999889	B;B	0.33103	0.176;0.397	B;B	0.34093	0.175;0.085	T	0.34054	-0.9844	10	0.02654	T	1	.	8.6063	0.33775	0.0:0.74:0.0:0.26	.	2;2	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	V	2	ENSP00000310241:A2V	ENSP00000310241:A2V	A	+	2	0	SLC22A13	38282360	0.110000	0.22057	0.186000	0.23195	0.271000	0.26615	0.781000	0.26774	0.528000	0.28580	0.563000	0.77884	GCT	0	superfamily_MFS_dom_general_subst_transpt		0.527	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	protein_coding	OTTHUMT00000253746.2	50	213	1.96	0.00	1	0	C	NM_004256	0	0		38307356	1	no_errors	ENST00000311856	ensembl	human	known	74_37	missense	17	91	32	40.91	8	63	SNP	0.695	T	T	38307356	C	T	38307356	3	4	97	1	0	0	0	0	1	0	0	0	14444	797	28	3	7	3	SLC22A13	3	38307356	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1272209	38307356	159715074	140	1339											
TGM4	7047	genome.wustl.edu	37	chr3	44935086	44935086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaggacatggttttcatgCctgatgaggacgagcgcaaa	12	8	13	8	2	1	3	1	2	0	1	1	6	1	5	1	3	2	2	1	3	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:44935086C>T	ENST00000296125.4	+	5	516	c.448C>T	c.(448-450)Cct>Tct	p.P150S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	150					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)	GGTTTTCATGCCTGATGAGGA	0.527																																							0											0													121	108	112					3																	44935086		2203	4300	6503	SO:0001583	missense	0			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.448C>T	3.37:g.44935086C>T	ENSP00000296125:p.Pro150Ser		Q16707|Q96QN4	Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.P150S	ENST00000296125.4	37	c.448	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851571	0.17034	.	.	ENSG00000163810	ENST00000296125	D	0.91996	-2.95	2.32	-4.1	0.03940	.	0.598230	0.13120	U	0.412319	T	0.79919	0.4529	N	0.21448	0.665	0.09310	N	0.99999	P	0.37824	0.609	B	0.30716	0.119	T	0.70788	-0.4777	10	0.39692	T	0.17	.	6.5202	0.22271	0.0:0.3705:0.4242:0.2053	.	150	P49221	TGM4_HUMAN	S	150	ENSP00000296125:P150S	ENSP00000296125:P150S	P	+	1	0	TGM4	44910090	0.025000	0.19082	0.013000	0.15412	0.523000	0.34469	-0.447000	0.06828	-0.644000	0.05465	0.467000	0.42956	CCT	0	NULL		0.527	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	protein_coding	OTTHUMT00000256755.2	29	119	0	0.00	0	0	C	NM_003241	0	0		44935086	1	no_errors	ENST00000296125	ensembl	human	known	74_37	missense	6	66	50	38.32	6	41	SNP	0.073	T	T	44935086	C	T	44935086	3	4	97	1	0	0	0	0	1	0	0	0	15829	739	26	3	466	3	TGM4	3	44935086	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	6627730	44935086	153087344	141	1340											
SETD2	29072	genome.wustl.edu	37	chr3	47142960	47142960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttacccatatctctggAactgatagtcaaacgttaac	14	12	5	10	1	2	1	1	1	1	0	3	2	2	2	1	1	5	1	1	1	7	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:47142960A>G	ENST00000409792.3	-	8	5045	c.5003T>C	c.(5002-5004)tTc>tCc	p.F1668S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1668					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)		ATATCTCTGGAACTGATAGTC	0.378			"N, F, S, Mis"		clear cell renal carcinoma																																		0		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													164	168	167					3																	47142960		2203	4300	6503	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5003T>C	3.37:g.47142960A>G	ENSP00000386759:p.Phe1668Ser		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.F1668S	ENST00000409792.3	37	c.5003	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	A	27.5	4.834659	0.91036	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.80393	-1.37	5.94	5.94	0.96194	SET domain (2);	0.000000	0.56097	D	0.000031	D	0.91257	0.7244	M	0.88181	2.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	D	0.92746	0.6212	10	0.87932	D	0	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	1668;1668	F2Z317;Q9BYW2	.;SETD2_HUMAN	S	1668	ENSP00000386759:F1668S	ENSP00000386759:F1668S	F	-	2	0	SETD2	47117964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.238000	0.95380	2.275000	0.75901	0.528000	0.53228	TTC	0	smart_SET_dom,pfscan_SET_dom		0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	protein_coding	OTTHUMT00000257479.2	359	294	0	0.00	0	0	A	NM_014159	0	0		47142960	-1	no_errors	ENST00000409792	ensembl	human	known	74_37	missense	126	167	39.42	39.93	82	111	SNP	1	G	G	47142960	A	G	47142960	3	3	97	1	0	0	0	0	1	0	0	0	14131	246	9	3	2747	3	SETD2	3	47142960	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	2207874	47142960	150879470	142	1341											
KIF9	64147	genome.wustl.edu	37	chr3	47315092	47315092	+	Frame_Shift_Del	DEL	C	C	-																															gtgcttgtaattctcagttgCccccatcatggtgtatgtct																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:47315092delC	ENST00000265529.3	-	5	996	c.316delG	c.(316-318)gcafs	p.A106fs	KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Frame_Shift_Del_p.A106fs|KIF9_ENST00000335044.2_Frame_Shift_Del_p.A106fs|KIF9_ENST00000444589.2_Frame_Shift_Del_p.A106fs|KIF9_ENST00000487440.1_5'UTR			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	106	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		TTCTCAGTTGCCCCCATCATG	0.557																																					Colon(44;962 1147 15977 24541)		0											0													173	163	166					3																	47315092		2203	4300	6503	SO:0001589	frameshift_variant	0			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.316delG	3.37:g.47315092delC	ENSP00000265529:p.Ala106fs		Q86Z28|Q9H8A4	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A106fs	ENST00000265529.3	37	c.316	CCDS2752.1	3																																																																																			0	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.557	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	protein_coding	OTTHUMT00000257475.2	42	189	0	0.53	0	1	C		0	0		47315092	-1	no_errors	ENST00000265529	ensembl	human	known	74_37	frame_shift_del	13	64	55.17	46.22	16	55	DEL	0.868	0	-	47315092	C	-	47315092	7	5	97	1	0	1	0	1	0	0	0	0	8310	739	26	0	2128	0	KIF9	3	47315092	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	172132	47315092	150707338	143	1342											
PLXNB1	5364	genome.wustl.edu	37	chr3	48465012	48465012	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgtagcaggcatctcGcgtgcgattagcaagccggt	7	8	15	11	5	1	0	0	0	1	0	2	1	1	0	2	3	4	4	2	3	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:48465012G>A	ENST00000358536.4	-	3	1278	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.R337*|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.R337*|PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.R337*	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	337	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)		CAGGCATCTCGCGTGCGATTA	0.637																																							0											0													58	58	58					3																	48465012		2203	4300	6503	SO:0001587	stop_gained	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1009C>T	3.37:g.48465012G>A	ENSP00000351338:p.Arg337*		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Nonsense_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.R337*	ENST00000358536.4	37	c.1009	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.123116	0.94429	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	.	.	.	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.2724	0.43491	0.0:0.0:0.6768:0.3232	.	.	.	.	X	337	.	ENSP00000296440:R337X	R	-	1	2	PLXNB1	48440016	0.970000	0.33590	0.257000	0.24404	0.951000	0.60555	1.619000	0.36965	2.002000	0.58637	0.478000	0.44815	CGA	0	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.637	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	49	86	0	0.00	0	0	G	NM_002673	0	0		48465012	-1	no_errors	ENST00000296440	ensembl	human	known	74_37	nonsense	14	30	46.15	28.57	12	12	SNP	0.956	A	A	48465012	G	A	48465012	4	1	97	1	0	0	0	0	0	1	0	0	12123	1095	38	1	5542	1	PLXNB1	3	48465012	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1149920	48465012	149557418	144	1343											
CACNA2D2	9254	genome.wustl.edu	37	chr3	50425016	50425016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagctcagcgtcagcctTggcgtcatagtacacgatgt	9	9	10	13	3	3	0	3	0	0	0	3	1	3	0	2	1	4	2	2	1	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:50425016T>C	ENST00000479441.1	-	5	492	c.493A>G	c.(493-495)Aag>Gag	p.K165E	CACNA2D2_ENST00000360963.3_Missense_Mutation_p.K96E|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.K165E|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.K165E|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.K165E|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.K165E|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.K165E|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.K165E			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	165					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCGTCAGCCTTGGCGTCATAG	0.607																																							0											0													171	124	140					3																	50425016		2203	4300	6503	SO:0001583	missense	0			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.493A>G	3.37:g.50425016T>C	ENSP00000418081:p.Lys165Glu		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.K165E	ENST00000479441.1	37	c.493	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711897	0.89112	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.08458	3.09;3.1;3.1;3.14;3.09;3.1;3.1;3.09	5.84	5.84	0.93424	VWA N-terminal (1);	0.110125	0.64402	D	0.000014	T	0.30854	0.0778	M	0.84219	2.685	0.42066	D	0.991186	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.05451	-1.0884	10	0.62326	D	0.03	-28.4808	12.0372	0.53431	0.0:0.0686:0.0:0.9314	.	165;165	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	E	165;165;165;96;165;165;165;165	ENSP00000407393:K165E;ENSP00000404631:K165E;ENSP00000266039:K165E;ENSP00000354228:K96E;ENSP00000390526:K165E;ENSP00000378519:K165E;ENSP00000390329:K165E;ENSP00000418081:K165E	ENSP00000266039:K165E	K	-	1	0	CACNA2D2	50400020	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.025000	0.49681	2.243000	0.73865	0.533000	0.62120	AAG	0	pfam_VWA_N		0.607	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	protein_coding	OTTHUMT00000346457.1	23	128	0	0.00	0	0	T	NM_006030	0	0		50425016	-1	no_errors	ENST00000435965	ensembl	human	known	74_37	missense	6	50	45.45	46.81	5	44	SNP	1	C	C	50425016	T	C	50425016	3	2	97	1	0	0	0	0	1	0	0	0	2549	1821	63	3	3105	3	CACNA2D2	3	50425016	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	1960004	50425016	147597414	145	1344											
DNAH1	25981	genome.wustl.edu	37	chr3	52420699	52420699	+	Frame_Shift_Del	DEL	C	C	-																															tacgtgccatgcagcggccaCccccgggtgtgaaactggtc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:52420699delC	ENST00000420323.2	+	56	9094	c.8833delC	c.(8833-8835)cccfs	p.P2946fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2946	Stalk. {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)		GCAGCGGCCACCCCCGGGTGT	0.597																																							0											0													18	23	22					3																	52420699		1961	4137	6098	SO:0001589	frameshift_variant	0			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.8833delC	3.37:g.52420699delC	ENSP00000401514:p.Pro2946fs		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.P2946fs	ENST00000420323.2	37	c.8833	CCDS46842.1	3																																																																																			0	NULL		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	protein_coding	OTTHUMT00000350816.1	46	63	0	0.00	0	0	C	NM_015512	0	0		52420699	1	no_errors	ENST00000420323	ensembl	human	known	74_37	frame_shift_del	20	44	44.44	32.31	16	21	DEL	0.993	0	-	52420699	C	-	52420699	7	5	97	1	0	1	0	1	0	0	0	0	4597	507	18	0	9051	0	DNAH1	3	52420699	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	1995683	52420699	145601731	146	1345											
PBRM1	55193	genome.wustl.edu	37	chr3	52637589	52637589	+	Frame_Shift_Del	DEL	T	T	-																															tcctctatttcttttggcaaTttttcctttctctctttctc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:52637589delT	ENST00000296302.7	-	17	2728	c.2727delA	c.(2725-2727)aaafs	p.K909fs	PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K924fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.K877fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K924fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K909fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K909fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K909fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K909fs			Q86U86	PB1_HUMAN	polybromo 1	909					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)		CTTTTGGCAATTTTTCCTTTC	0.338			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		0		Rec	yes		3	3p21	55193	polybromo 1		E	0													81	79	80					3																	52637589		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2727delA	3.37:g.52637589delT	ENSP00000296302:p.Lys909fs		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.K909fs	ENST00000296302.7	37	c.2727		3																																																																																			0	NULL		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	protein_coding	OTTHUMT00000327232.1	73	301	0	0.00	0	0	T	NM_018165	0	0		52637589	-1	no_errors	ENST00000296302	ensembl	human	known	74_37	frame_shift_del	34	175	38.18	41.86	21	126	DEL	1	0	-	52637589	T	-	52637589	7	5	97	1	0	1	0	1	0	0	0	0	11491	1490	52	0	2229	0	PBRM1	3	52637589	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	216890	52637589	145384841	147	1346											
ROBO1	6091	genome.wustl.edu	37	chr3	78710235	78710235	+	Frame_Shift_Del	DEL	A	A	-																															tctgctccttgaaattcattAaaaaaagggcgagccttaat																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:78710235delA	ENST00000464233.1	-	16	2378	c.2265delT	c.(2263-2265)tttfs	p.F755fs	ROBO1_ENST00000467549.1_Frame_Shift_Del_p.F719fs|ROBO1_ENST00000436010.2_Frame_Shift_Del_p.F716fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.F719fs	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	755	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GAAATTCATTAAAAAAAGGGC	0.398																																							0											0													88	82	84					3																	78710235		1812	4078	5890	SO:0001589	frameshift_variant	0			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.2265delT	3.37:g.78710235delA	ENSP00000420321:p.Phe755fs		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	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.F755fs	ENST00000464233.1	37	c.2265	CCDS54611.1	3																																																																																			0	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	protein_coding	OTTHUMT00000352610.1	91	291	0	0.00	0	0	A	NM_002941	0	0		78710235	-1	no_errors	ENST00000464233	ensembl	human	known	74_37	frame_shift_del	42	123	32.26	36.60	20	71	DEL	1	0	-	78710235	A	-	78710235	7	5	97	1	0	1	0	1	0	0	0	0	13513	359	13	0	2754	0	ROBO1	3	78710235	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	26072646	78710235	119312195	148	1347											
BOC	91653	genome.wustl.edu	37	chr3	112992057	112992057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcatctccagccagcGcctccggctctcccgcaggg	4	6	10	21	3	3	0	1	0	2	0	6	0	4	0	7	2	2	2	7	2	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:112992057G>A	ENST00000495514.1	+	8	1807	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	BOC_ENST00000273395.4_Missense_Mutation_p.R368H|BOC_ENST00000355385.3_Missense_Mutation_p.R368H			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	368	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TCCAGCCAGCGCCTCCGGCTC	0.682																																							0											0													35	35	35					3																	112992057		2203	4300	6503	SO:0001583	missense	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1103G>A	3.37:g.112992057G>A	ENSP00000418663:p.Arg368His		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	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.R368H	ENST00000495514.1	37	c.1103	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949754	0.73787	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	D;D;D	0.84800	-1.9;-1.9;-1.9	5.66	4.79	0.61399	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117674	0.56097	N	0.000022	D	0.86924	0.6050	M	0.70903	2.155	0.50039	D	0.99984	P;D	0.53619	0.952;0.961	P;P	0.50162	0.5;0.633	D	0.87554	0.2467	10	0.72032	D	0.01	.	10.5172	0.44896	0.1464:0.0:0.8536:0.0	.	368;368	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	H	368	ENSP00000418663:R368H;ENSP00000273395:R368H;ENSP00000347546:R368H	ENSP00000273395:R368H	R	+	2	0	BOC	114474747	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.138000	0.64795	1.395000	0.46643	0.655000	0.94253	CGC	0	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.682	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	protein_coding	OTTHUMT00000354485.3	20	53	0	0.00	0	0	G	NM_033254	0	0		112992057	1	no_errors	ENST00000273395	ensembl	human	known	74_37	missense	12	59	33.33	24.36	6	19	SNP	1	A	A	112992057	G	A	112992057	3	1	97	1	0	0	0	0	1	0	0	0	1481	1087	38	1	1125	1	BOC	3	112992057	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	34281822	112992057	85030373	149	1348											
CCDC52	152185	genome.wustl.edu	37	chr3	113187079	113187079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcagacccttgacctcGcgacctgtccaccgctcata	7	9	7	18	3	2	2	1	1	1	1	4	3	3	2	5	0	1	2	5	0	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:113187079G>A	ENST00000295872.4	-	10	1321	c.1062C>T	c.(1060-1062)cgC>cgT	p.R354R		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	354					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CCTTGACCTCGCGACCTGTCC	0.493																																							0											0													188	176	180					3																	113187079		2203	4300	6503	SO:0001819	synonymous_variant	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1062C>T	3.37:g.113187079G>A			D3DN72|Q8WUX6	Silent	SNP	NULL	p.R354	ENST00000295872.4	37	c.1062	CCDS2973.1	3																																																																																			0	NULL		0.493	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	protein_coding	OTTHUMT00000354177.2	26	224	0	0.00	0	0	G	NM_144718	0	0		113187079	-1	no_errors	ENST00000295872	ensembl	human	known	74_37	silent	20	229	19.23	18.15	5	51	SNP	0.028	A	A	113187079	G	A	113187079	2	1	97	1	0	0	0	0	0	0	0	1	2822	1074	38	1		1	CCDC52	3	113187079	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	195022	113187079	84835351	150	1349											
KIAA2018	205717	genome.wustl.edu	37	chr3	113376111	113376119	+	In_Frame_Del	DEL	TGCTGCTGC	TGCTGCTGC	-																															ctgcttgttgttgttgctgtTgctgctgctgctgctgctgc																								rs62265537|rs59601191|rs62265538|rs112313093|rs59990801|rs397990842|rs10606566		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TGCTGCTGC	TGCTGCTGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:113376111_113376119delTGCTGCTGC	ENST00000478658.1	-	5	4427_4435	c.4410_4418delGCAGCAGCA	c.(4408-4419)cagcagcagcaa>caa	p.1470_1473QQQQ>Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_In_Frame_Del_p.1470_1473QQQQ>Q			Q68DE3	K2018_HUMAN	KIAA2018	1470	Gln-rich.					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						ttgttgctgttgctgctgctgctgctgct	0.502																																							0											0																																										SO:0001651	inframe_deletion	0			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.4410_4418delGCAGCAGCA	3.37:g.113376120_113376128delTGCTGCTGC	ENSP00000420721:p.Gln1476_Gln1478del		Q7Z3L9|Q8IVF3|Q9H8T4	In_Frame_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.QQQ1474in_frame_del	ENST00000478658.1	37	c.4418_4410	CCDS43133.1	3																																																																																			0	NULL		0.502	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	protein_coding	OTTHUMT00000354591.1	17	2	5.56	0.00	1	0	TGCTGCTGC	NM_001009899	rs112313093	TTGCTGCTGC->T		113376119	-1	no_errors	ENST00000316407	ensembl	human	known	74_37	in_frame_del	17	3	29.17	0.00	7	0	DEL	0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	0	-	113376119	TGCTGCTGC	-	113376111	7	5	97	1	0	1	0	1	0	0	0	0	8268	1812	63	0	2323	0	KIAA2018	3	113376111	In_Frame_Del	DEL	TGCTGCTGC	TCGA-ZB-A966-01A-11D-A428-09	189032	113376111	84646319	151	1350											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119134183	119134183	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaatgcaggtctctgAgccaggagacccaaaggtca	12	6	12	11	0	2	2	1	1	1	1	3	4	2	3	3	4	2	1	3	4	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:119134183A>G	ENST00000264245.4	+	12	3939	c.3407A>G	c.(3406-3408)gAg>gGg	p.E1136G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1136					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						CAGGTCTCTGAGCCAGGAGAC	0.527																																					Pancreas(7;176 297 5394 51128 51241)		0											0													89	85	86					3																	119134183		1932	4148	6080	SO:0001583	missense	0				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.3407A>G	3.37:g.119134183A>G	ENSP00000264245:p.Glu1136Gly		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E1136G	ENST00000264245.4	37	c.3407	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436540	0.43224	.	.	ENSG00000031081	ENST00000264245	T	0.07327	3.2	5.53	5.53	0.82687	.	0.321128	0.26723	N	0.022833	T	0.10981	0.0268	M	0.63428	1.95	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.12889	-1.0530	10	0.72032	D	0.01	.	9.1622	0.37030	0.9128:0.0:0.0872:0.0	.	1136	Q2M1Z3	RHG31_HUMAN	G	1136	ENSP00000264245:E1136G	ENSP00000264245:E1136G	E	+	2	0	ARHGAP31	120616873	1.000000	0.71417	0.975000	0.42487	0.531000	0.34715	2.570000	0.45981	2.315000	0.78130	0.533000	0.62120	GAG	0	NULL		0.527	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	protein_coding	OTTHUMT00000354942.2	33	149	0	0.00	0	0	A		0	0		119134183	1	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	20	186	28.57	19.05	8	44	SNP	0.185	G	G	119134183	A	G	119134183	3	3	97	1	0	0	0	0	1	0	0	0	880	304	11	4	3453	4	ARHGAP31	3	119134183	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	5758072	119134183	78888247	152	1351											
POLQ	10721	genome.wustl.edu	37	chr3	121208594	121208594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaatggattctacacgCtccagagtctttcagggggc	9	12	11	9	1	3	1	1	0	2	1	4	2	4	2	1	3	1	2	1	3	3	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:121208594C>T	ENST00000264233.5	-	16	3312	c.3184G>A	c.(3184-3186)Gcg>Acg	p.A1062T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1062					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)		ATTCTACACGCTCCAGAGTCT	0.413								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)		0											0													61	69	66					3																	121208594		2202	4300	6502	SO:0001583	missense	0			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.3184G>A	3.37:g.121208594C>T	ENSP00000264233:p.Ala1062Thr		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.A1062T	ENST00000264233.5	37	c.3184	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.156816	0.01686	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.44881	0.91	4.87	-2.11	0.07187	.	1.647590	0.02759	N	0.118383	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.13407	0.001;0.009	T	0.05666	-1.0871	10	0.12766	T	0.61	.	0.3505	0.00348	0.2829:0.1659:0.1465:0.4047	.	1062;234	O75417;O75417-2	DPOLQ_HUMAN;.	T	685;1062;1198	ENSP00000264233:A1062T	ENSP00000264233:A1062T	A	-	1	0	POLQ	122691284	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.361000	0.07612	-0.539000	0.06273	-0.471000	0.05019	GCG	0	NULL		0.413	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	protein_coding	OTTHUMT00000355097.1	38	236	0	0.00	0	0	C	NM_199420	0	0		121208594	-1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	47	347	21.67	21.32	13	94	SNP	0	T	T	121208594	C	T	121208594	3	4	97	1	0	0	0	0	1	0	0	0	12208	797	28	3	4648	3	POLQ	3	121208594	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2074411	121208594	76813836	153	1352											
IQCB1	9657	genome.wustl.edu	37	chr3	121500719	121500719	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttcgctaggaatttaagCgcctggaagaaaaaaaattg	16	9	9	7	2	0	1	0	0	0	1	1	3	0	3	1	2	1	1	1	2	8	5	rs201319850		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:121500719C>T	ENST00000310864.6	-	13	1495	c.1281G>A	c.(1279-1281)gcG>gcA	p.A427A	IQCB1_ENST00000349820.6_Silent_p.A294A	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	427	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGAATTTAAGCGCCTGGAAGA	0.393																																							0											0								C	,	1,4405	2.1+/-5.4	0,1,2202	79	80	80		1281,882	-4.6	0.5	3		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IQCB1	NM_001023570.2,NM_001023571.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	427/599,294/466	121500719	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1281G>A	3.37:g.121500719C>T			Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Silent	SNP	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	p.A427	ENST00000310864.6	37	c.1281	CCDS33837.1	3																																																																																			0	superfamily_P-loop_NTPase		0.393	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	protein_coding	OTTHUMT00000250573.1	96	273	0	0.36	0	1	C	NM_014642	rs201319850	C->T		121500719	-1	no_errors	ENST00000310864	ensembl	human	known	74_37	silent	71	317	21.11	17.62	19	68	SNP	0.882	T	T	121500719	C	T	121500719	2	4	97	1	0	0	0	0	0	0	0	1	7803	755	27	1		1	IQCB1	3	121500719	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	292125	121500719	76521711	154	1353											
SEMA5B	54437	genome.wustl.edu	37	chr3	122634326	122634326	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggctggccccaggcagTcaaggcccccacagcggggt	7	4	16	14	1	1	0	1	0	0	0	1	1	1	1	4	7	1	2	4	7	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:122634326T>A	ENST00000357599.3	-	14	2335	c.1949A>T	c.(1948-1950)gAc>gTc	p.D650V	SEMA5B_ENST00000195173.4_Missense_Mutation_p.D650V|SEMA5B_ENST00000451055.2_Missense_Mutation_p.D704V	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	650					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)		CCCCAGGCAGTCAAGGCCCCC	0.597																																							0											0													65	63	64					3																	122634326		2203	4300	6503	SO:0001583	missense	0			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.1949A>T	3.37:g.122634326T>A	ENSP00000350215:p.Asp650Val		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.D704V	ENST00000357599.3	37	c.2111	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390507	0.25118	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	4.75	1.01	0.19927	.	0.628717	0.17699	N	0.164993	T	0.12220	0.0297	L	0.39514	1.22	0.32784	N	0.502131	B;B;B	0.18968	0.032;0.019;0.019	B;B;B	0.25614	0.062;0.028;0.028	T	0.12426	-1.0548	10	0.31617	T	0.26	.	5.0579	0.14542	0.0:0.2842:0.1651:0.5507	.	592;650;650	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	V	650;650;592;704;650	ENSP00000350215:D650V;ENSP00000195173:D650V;ENSP00000389588:D704V;ENSP00000377208:D650V	ENSP00000195173:D650V	D	-	2	0	SEMA5B	124117016	0.007000	0.16637	0.573000	0.28510	0.989000	0.77384	0.048000	0.14078	0.336000	0.23639	0.379000	0.24179	GAC	0	superfamily_Thrombospondin_1_rpt		0.597	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	protein_coding	OTTHUMT00000277165.1	27	108	0	0.00	0	0	T	NM_001031702	0	0		122634326	-1	no_errors	ENST00000451055	ensembl	human	known	74_37	missense	23	114	17.86	11.63	5	15	SNP	0.163	A	A	122634326	T	A	122634326	3	1	97	1	0	0	0	0	1	0	0	0	14038	1667	58	5	1546	5	SEMA5B	3	122634326	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	1133607	122634326	75388104	155	1354											
ADCY5	111	genome.wustl.edu	37	chr3	123008708	123008708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggtcttgcccaccttgtCgtaggtagagtcgttgaggc	5	12	15	9	2	1	2	0	1	1	1	3	2	1	2	2	3	1	3	2	3	2	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:123008708C>T	ENST00000462833.1	-	19	4633	c.3421G>A	c.(3421-3423)Gac>Aac	p.D1141N	ADCY5_ENST00000309879.5_Missense_Mutation_p.D791N|ADCY5_ENST00000491190.1_Missense_Mutation_p.D799N	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1141	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)		CCCACCTTGTCGTAGGTAGAG	0.542																																							0											0													146	124	131					3																	123008708		2203	4300	6503	SO:0001583	missense	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3421G>A	3.37:g.123008708C>T	ENSP00000419361:p.Asp1141Asn		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.D1141N	ENST00000462833.1	37	c.3421	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.425781	0.96131	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.29655	1.56;1.56;1.56	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	0.977;1.0	P;D	0.97110	0.581;1.0	T	0.34925	-0.9809	10	0.42905	T	0.14	.	18.7781	0.91920	0.0:1.0:0.0:0.0	.	1141;799	O95622;B3KWA8	ADCY5_HUMAN;.	N	1141;799;791	ENSP00000419361:D1141N;ENSP00000418537:D799N;ENSP00000308685:D791N	ENSP00000308685:D791N	D	-	1	0	ADCY5	124491398	1.000000	0.71417	0.974000	0.42286	0.953000	0.61014	7.315000	0.78998	2.662000	0.90505	0.555000	0.69702	GAC	0	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.542	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	protein_coding	OTTHUMT00000355889.4	37	139	0	0.00	0	0	C	XM_171048	0	0		123008708	-1	no_errors	ENST00000462833	ensembl	human	known	74_37	missense	26	122	25.71	23.75	9	38	SNP	1	T	T	123008708	C	T	123008708	3	4	97	1	0	0	0	0	1	0	0	0	297	884	31	2	376	2	ADCY5	3	123008708	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	374382	123008708	75013722	156	1355											
KLF15	28999	genome.wustl.edu	37	chr3	126071428	126071428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgctcccccttcacagggGccgctgcccttcgccagggc	5	7	11	18	2	1	0	1	0	0	0	3	0	2	0	5	3	2	2	5	3	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:126071428G>A	ENST00000296233.3	-	2	568	c.338C>T	c.(337-339)gCc>gTc	p.A113V	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	113					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)		CTTCACAGGGGCCGCTGCCCT	0.662																																							0											0													15	17	16					3																	126071428		2189	4287	6476	SO:0001583	missense	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.338C>T	3.37:g.126071428G>A	ENSP00000296233:p.Ala113Val			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A113V	ENST00000296233.3	37	c.338	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	G	6.295	0.422516	0.11928	.	.	ENSG00000163884	ENST00000296233	T	0.07444	3.19	4.3	2.04	0.26737	.	0.781125	0.12311	N	0.480204	T	0.05777	0.0151	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40757	-0.9546	10	0.31617	T	0.26	.	7.4025	0.26973	0.2822:0.0:0.7178:0.0	.	113	Q9UIH9	KLF15_HUMAN	V	113	ENSP00000296233:A113V	ENSP00000296233:A113V	A	-	2	0	KLF15	127554118	0.156000	0.22821	0.001000	0.08648	0.574000	0.36063	2.768000	0.47645	0.308000	0.22923	0.591000	0.81541	GCC	0	NULL		0.662	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	protein_coding	OTTHUMT00000370096.1	18	130	0	0.00	0	0	G	NM_014079	0	0		126071428	-1	no_errors	ENST00000296233	ensembl	human	known	74_37	missense	13	127	27.78	22.56	5	37	SNP	0.001	A	A	126071428	G	A	126071428	3	1	97	1	0	0	0	0	1	0	0	0	8343	1203	42	3	920	3	KLF15	3	126071428	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3062720	126071428	71951002	157	1356											
PLXNA1	5361	genome.wustl.edu	37	chr3	126708480	126708480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggccagaagaaccgCgtgaagccaccaaaggagtc	13	2	13	13	2	0	3	0	1	0	2	1	4	0	4	5	2	2	0	5	2	4	0	rs373912187		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:126708480C>T	ENST00000393409.2	+	1	1044	c.1044C>T	c.(1042-1044)cgC>cgT	p.R348R	PLXNA1_ENST00000251772.4_Silent_p.R325R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	348	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)		AGAAGAACCGCGTGAAGCCAC	0.637																																							0											0								T		0,4406		0,0,2203	75	71	72		1044	-7.4	0.7	3		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLXNA1	NM_032242.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		348/1897	126708480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1044C>T	3.37:g.126708480C>T				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.R348	ENST00000393409.2	37	c.1044	CCDS33847.2	3																																																																																			0	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.637	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	protein_coding	OTTHUMT00000356451.1	52	115	0	0.00	0	0	C	NM_032242	rs373912187	C->T		126708480	1	no_errors	ENST00000393409	ensembl	human	known	74_37	silent	43	106	18.87	29.33	10	44	SNP	0.017	T	T	126708480	C	T	126708480	2	4	97	1	0	0	0	0	0	0	0	1	12119	755	27	1		1	PLXNA1	3	126708480	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	637052	126708480	71313950	158	1357											
PLXNA1	5361	genome.wustl.edu	37	chr3	126751234	126751234	+	Frame_Shift_Del	DEL	C	C	-																															ggactctcgcctgcagcctgCccctgcgcttctgggtgaac																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:126751234delC	ENST00000393409.2	+	29	5236	c.5236delC	c.(5236-5238)cccfs	p.P1746fs	PLXNA1_ENST00000251772.4_Frame_Shift_Del_p.P1723fs|PLXNA1_ENST00000505278.1_3'UTR	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1746					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)		CTGCAGCCTGCCCCTGCGCTT	0.597																																							0											0													82	76	78					3																	126751234		2203	4300	6503	SO:0001589	frameshift_variant	0			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.5236delC	3.37:g.126751234delC	ENSP00000377061:p.Pro1746fs			Frame_Shift_Del	DEL	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.L1747fs	ENST00000393409.2	37	c.5236	CCDS33847.2	3																																																																																			0	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.597	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	protein_coding	OTTHUMT00000356451.1	20	74	0	0.00	0	0	C	NM_032242	0	0		126751234	1	no_errors	ENST00000393409	ensembl	human	known	74_37	frame_shift_del	13	71	43.48	22.83	10	21	DEL	1	0	-	126751234	C	-	126751234	7	5	97	1	0	1	0	1	0	0	0	0	12119	739	26	0	5350	0	PLXNA1	3	126751234	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	42754	126751234	71271196	159	1358											
RUVBL1	8607	genome.wustl.edu	37	chr3	127817784	127817784	+	Frame_Shift_Del	DEL	C	C	-																															tcatggacaggatatcttgtCccccctgcataagagaagac																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:127817784delC	ENST00000322623.5	-	7	857	c.758delG	c.(757-759)ggafs	p.G253fs	RUVBL1_ENST00000464873.1_Frame_Shift_Del_p.G193fs|RUVBL1_ENST00000417360.1_Frame_Shift_Del_p.G253fs	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	253					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)			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)		GATATCTTGTCCCCCCTGCAT	0.522																																							0											0													148	128	134					3																	127817784		2203	4300	6503	SO:0001589	frameshift_variant	0			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.758delG	3.37:g.127817784delC	ENSP00000318297:p.Gly253fs		B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Frame_Shift_Del	DEL	pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase	p.G253fs	ENST00000322623.5	37	c.758	CCDS3047.1	3																																																																																			0	pfam_TIP49_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.522	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	protein_coding	OTTHUMT00000356728.2	36	160	0	0.00	0	0	C		0	0		127817784	-1	no_errors	ENST00000322623	ensembl	human	known	74_37	frame_shift_del	22	210	24.14	16.33	7	41	DEL	0.997	0	-	127817784	C	-	127817784	7	5	97	1	0	1	0	1	0	0	0	0	13752	855	30	0	632	0	RUVBL1	3	127817784	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	1066550	127817784	70204646	160	1359											
C3orf27	23434	genome.wustl.edu	37	chr3	128292318	128292319	+	Frame_Shift_Ins	INS	-	-	TC																															atccctgcctgagctcgtcaINStctctctctctctctctcac																								rs147519916		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	TC	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:128292318_128292319insTC	ENST00000356020.2	-	3	1220_1221	c.254_255insGA	c.(253-255)gatfs	p.D85fs		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	85										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TGAGCTCGTCATCTCTCTCTCT	0.599																																							0											0																																										SO:0001589	frameshift_variant	0			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.253_254dupGA	3.37:g.128292327_128292328dupTC	ENSP00000348302:p.Asp85fs			Frame_Shift_Ins	INS	NULL	p.D85fs	ENST00000356020.2	37	c.255_254	CCDS3050.1	3																																																																																			0	NULL		0.599	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	protein_coding	OTTHUMT00000356924.1	25	66	0	0.00	0	0	0	NM_007354	0	0		128292319	-1	no_errors	ENST00000356020	ensembl	human	known	74_37	frame_shift_ins	29	106	21.62	15.87	8	20	INS	0.000:0.075	TC	TC	128292319	-	TC	128292318	7	5	97	1	0	1	1	0	0	0	0	0	2219	214	8	0	198	0	C3orf27	3	128292318	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	474534	128292318	69730112	161	1360											
RPN1	6184	genome.wustl.edu	37	chr3	128363786	128363786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccttaattttggtttcaCgtacttccaaattgttctct	8	19	4	10	1	2	0	1	0	1	0	4	0	3	0	2	1	2	3	2	1	4	9	rs199783080		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:128363786C>T	ENST00000296255.3	-	2	350	c.302G>A	c.(301-303)cGt>cAt	p.R101H	RPN1_ENST00000497289.1_De_novo_Start_OutOfFrame	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	101					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)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TTTGGTTTCACGTACTTCCAA	0.338			T	EVI1	AML								C|||	1	0.000199681	0	0.0014	5008	,	,		19640	0		0	False		,,,				2504	0						0.9998,0.0001997		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													269	228	242					3																	128363786		2203	4300	6503	SO:0001583	missense	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.302G>A	3.37:g.128363786C>T	ENSP00000296255:p.Arg101His		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.R101H	ENST00000296255.3	37	c.302	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150914	0.78001	.	.	ENSG00000163902	ENST00000296255;ENST00000545956	.	.	.	5.01	4.13	0.48395	.	0.197730	0.44097	D	0.000499	T	0.51193	0.1660	L	0.55990	1.75	0.80722	D	1	D	0.55605	0.972	P	0.49332	0.607	T	0.49744	-0.8907	9	0.40728	T	0.16	-13.4594	7.0718	0.25183	0.0:0.7239:0.0:0.2761	.	101	P04843	RPN1_HUMAN	H	101;75	.	ENSP00000296255:R101H	R	-	2	0	RPN1	129846476	0.991000	0.36638	0.929000	0.37066	0.979000	0.70002	1.050000	0.30404	1.238000	0.43771	0.591000	0.81541	CGT	0	pfam_Ribophorin_I		0.338	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	protein_coding	OTTHUMT00000356934.2	139	340	0	0.29	0	1	C	NM_002950	rs199783080	C->T		128363786	-1	no_errors	ENST00000296255	ensembl	human	known	74_37	missense	111	384	20.14	19.33	28	92	SNP	0.987	T	T	128363786	C	T	128363786	3	4	97	1	0	0	0	0	1	0	0	0	13607	536	19	1	1557	1	RPN1	3	128363786	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	71468	128363786	69658644	162	1361											
C3orf37	56941	genome.wustl.edu	37	chr3	129007805	129007805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttcaatactaccaactgtCgtagtgataccgtaatggag	13	11	9	8	2	1	1	1	1	0	0	2	2	1	2	2	1	4	3	2	1	7	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:129007805C>T	ENST00000383463.4	+	3	381	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	HMCES_ENST00000389735.3_Missense_Mutation_p.R98C|HMCES_ENST00000502878.2_Missense_Mutation_p.R98C|HMCES_ENST00000417226.2_Missense_Mutation_p.R98C	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	98							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										TACCAACTGTCGTAGTGATAC	0.473																																							0											0													127	109	116					3																	129007805		2203	4300	6503	SO:0001583	missense	0			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.292C>T	3.37:g.129007805C>T	ENSP00000372955:p.Arg98Cys		A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	pfam_DUF159,superfamily_DUF159	p.R98C	ENST00000383463.4	37	c.292	CCDS33852.1	3	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747341	0.89663	.	.	ENSG00000183624	ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735;ENST00000509551	.	.	.	5.12	5.12	0.69794	.	0.050960	0.85682	D	0.000000	D	0.90967	0.7160	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94669	0.7855	9	0.87932	D	0	-20.1364	16.0607	0.80836	0.0:1.0:0.0:0.0	.	98;98	E7EMP6;Q96FZ2	.;CC037_HUMAN	C	98	.	ENSP00000372955:R98C	R	+	1	0	C3orf37	130490495	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	5.165000	0.64959	2.392000	0.81423	0.591000	0.81541	CGT	0	pfam_DUF159,superfamily_DUF159		0.473	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCES	protein_coding	OTTHUMT00000355470.2	114	216	0.87	0.00	1	0	C	NM_020187	0	0		129007805	1	no_errors	ENST00000383463	ensembl	human	known	74_37	missense	70	263	28.57	22.42	28	76	SNP	1	T	T	129007805	C	T	129007805	3	4	97	1	0	0	0	0	1	0	0	0	2227	884	31	2	298	2	C3orf37	3	129007805	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	644019	129007805	69014625	163	1362											
COL6A5	256076	genome.wustl.edu	37	chr3	130187649	130187649	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgttgcaggacatgaaaaTtatggcagaaaagaagaacc	17	8	10	6	0	1	4	0	1	1	3	1	5	1	5	1	2	2	3	1	2	7	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:130187649T>A	ENST00000432398.2	+	38	7295	c.6801T>A	c.(6799-6801)aaT>aaA	p.N2267K	COL6A5_ENST00000265379.6_Missense_Mutation_p.N2267K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2267	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						GACATGAAAATTATGGCAGAA	0.378																																							0											0													29	27	28					3																	130187649		1844	4097	5941	SO:0001583	missense	0			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.6801T>A	3.37:g.130187649T>A	ENSP00000390895:p.Asn2267Lys		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.N2267K	ENST00000432398.2	37	c.6801		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.350|9.350	1.065241|1.065241	0.20067|0.20067	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	.|D;D;T;T	.|0.88741	.|-2.32;-2.42;-0.85;-0.7	5.08|5.08	-2.75|-2.75	0.05914|0.05914	.|.	.|0.337088	.|0.25178	.|N	.|0.032558	T|T	0.76176|0.76176	0.3951|0.3951	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|P;P	.|0.39862	.|0.454;0.692	.|B;B	.|0.29862	.|0.084;0.108	T|T	0.66941|0.66941	-0.5796|-0.5796	5|10	.|0.18710	.|T	.|0.47	.|.	1.5183|1.5183	0.02510|0.02510	0.144:0.3402:0.1457:0.3701|0.144:0.3402:0.1457:0.3701	.|.	.|2267;2267	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	I|K	519|2267;2267;210;102	.|ENSP00000390895:N2267K;ENSP00000265379:N2267K;ENSP00000362250:N210K;ENSP00000424968:N102K	.|ENSP00000265379:N2267K	L|N	+|+	1|3	2|2	COL6A5|COL6A5	131670339|131670339	0.000000|0.000000	0.05858|0.05858	0.394000|0.394000	0.26270|0.26270	0.868000|0.868000	0.49771|0.49771	-0.183000|-0.183000	0.09712|0.09712	-0.312000|-0.312000	0.08741|0.08741	0.528000|0.528000	0.53228|0.53228	TTA|AAT	0	NULL		0.378	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	protein_coding		51	213	0	0.00	0	0	T	NM_153264	0	0		130187649	1	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	50	293	12.28	25.82	7	102	SNP	0.034	A	A	130187649	T	A	130187649	3	1	97	1	0	0	0	0	1	0	0	0	3702	1490	52	5	6947	5	COL6A5	3	130187649	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	1179844	130187649	67834781	164	1363											
STAG1	10274	genome.wustl.edu	37	chr3	136221539	136221539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcattttatttctctcGgcttcatattgtctctgggt	6	19	6	10	1	4	0	2	0	2	0	7	0	4	0	1	2	0	1	1	2	3	6	rs113504457	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:136221539G>A	ENST00000383202.2	-	8	1015	c.759C>T	c.(757-759)gcC>gcT	p.A253A	STAG1_ENST00000236698.5_Silent_p.A253A|STAG1_ENST00000434713.2_Silent_p.A27A	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	253					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)	p.A253A(1)		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						TATTTCTCTCGGCTTCATATT	0.383																																							0											1	Substitution - coding silent(1)	lung(1)						G		1,4405	2.1+/-5.4	0,1,2202	143	135	138		759	-7.6	1	3	dbSNP_132	138	0,8600		0,0,4300	no	coding-synonymous	STAG1	NM_005862.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		253/1259	136221539	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.759C>T	3.37:g.136221539G>A			O00539|Q6P275	Silent	SNP	pfam_STAG,superfamily_ARM-type_fold	p.A253	ENST00000383202.2	37	c.759	CCDS3090.1	3																																																																																			0	pfam_STAG,superfamily_ARM-type_fold		0.383	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	protein_coding	OTTHUMT00000357366.1	86	242	0	0.00	0	0	G	NM_005862	rs113504457	G->A		136221539	-1	no_errors	ENST00000383202	ensembl	human	known	74_37	silent	60	290	23.08	23.76	18	91	SNP	0.169	A	A	136221539	G	A	136221539	2	1	97	1	0	0	0	0	0	0	0	1	15241	1103	39	2		2	STAG1	3	136221539	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	6033890	136221539	61800891	165	1364											
TXNDC6	347736	genome.wustl.edu	37	chr3	138023764	138023764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcacgggggcccatgaCggttcgccaggtagtgacca	7	6	17	11	3	1	2	1	2	0	0	2	2	1	2	3	6	0	2	3	6	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:138023764C>T	ENST00000333911.3	-	9	769	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	NME9_ENST00000536478.1_Missense_Mutation_p.V187I|NME9_ENST00000484930.1_Missense_Mutation_p.V185I|NME9_ENST00000383180.2_Missense_Mutation_p.V187I|NME9_ENST00000341790.5_Missense_Mutation_p.V185I|NME9_ENST00000317876.4_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																																							0											1	Substitution - Missense(1)	breast(1)											154	136	142					3																	138023764		2203	4300	6503	SO:0001583	missense	0			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"thioredoxin domain containing 6", "NME gene family member 9", "NME family member 9"	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.742G>A	3.37:g.138023764C>T	ENSP00000335444:p.Val248Ile		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	0	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	16	89	0	0.00	0	0	C	NM_178130	0	0		138023764	-1	no_errors	ENST00000333911	ensembl	human	known	74_37	missense	16	129	27.27	22.75	6	38	SNP	0.033	T	T	138023764	C	T	138023764	3	4	97	1	0	0	0	0	1	0	0	0	16797	536	19	1	244	1	TXNDC6	3	138023764	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1802225	138023764	59998666	166	1365											
ESYT3	83850	genome.wustl.edu	37	chr3	138183253	138183253	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaactttctggggctcCgaggcaagtcagatccctac	10	8	11	12	1	2	1	1	0	1	1	4	3	4	2	2	4	2	2	2	4	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:138183253C>T	ENST00000389567.4	+	9	1168	c.982C>T	c.(982-984)Cga>Tga	p.R328*		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	328	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						TCTGGGGCTCCGAGGCAAGTC	0.577																																							0											0													75	69	71					3																	138183253		2203	4300	6503	SO:0001587	stop_gained	0			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.982C>T	3.37:g.138183253C>T	ENSP00000374218:p.Arg328*		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Nonsense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.R328*	ENST00000389567.4	37	c.982	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	C	34	5.359926	0.95877	.	.	ENSG00000158220	ENST00000389567	.	.	.	4.78	1.67	0.24075	.	0.382752	0.24866	N	0.034965	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-20.1399	8.261	0.31786	0.1348:0.4854:0.3798:0.0	.	.	.	.	X	328	.	ENSP00000374218:R328X	R	+	1	2	ESYT3	139665943	0.029000	0.19370	0.294000	0.24946	0.896000	0.52359	1.607000	0.36836	0.606000	0.29965	0.455000	0.32223	CGA	0	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom		0.577	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	protein_coding	OTTHUMT00000303993.1	33	87	0	0.00	0	0	C	NM_031913	0	0		138183253	1	no_errors	ENST00000389567	ensembl	human	known	74_37	nonsense	34	98	8.11	30.50	3	43	SNP	0.016	T	T	138183253	C	T	138183253	4	4	97	1	0	0	0	0	0	1	0	0	5266	644	23	2	1016	2	ESYT3	3	138183253	Nonsense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	159489	138183253	59839177	167	1366											
CLSTN2	64084	genome.wustl.edu	37	chr3	140123400	140123400	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttctgtgtgtggtcccagGgccgtggtccatatacaggt	5	13	13	10	1	1	0	0	0	1	0	3	0	3	0	3	4	1	0	3	4	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:140123400G>T	ENST00000458420.3	+	4	619	c.429G>T	c.(427-429)aaG>aaT	p.K143N	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	143	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						GTGGTCCCAGGGCCGTGGTCC	0.542										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)		0											0													74	63	67					3																	140123400		2203	4300	6503	SO:0001630	splice_region_variant	0			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.429-1G>T	3.37:g.140123400G>T			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.K143N	ENST00000458420.3	37	c.429	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144690	0.57044	.	.	ENSG00000158258	ENST00000458420	T	0.48836	0.8	5.51	5.51	0.81932	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.55179	-0.8181	9	.	.	.	.	10.3753	0.44079	0.0887:0.0:0.9113:0.0	.	143	Q9H4D0	CSTN2_HUMAN	N	143	ENSP00000402460:K143N	.	K	+	3	2	CLSTN2	141606090	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.713000	0.74686	2.584000	0.87258	0.563000	0.77884	AAG	0	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	protein_coding	OTTHUMT00000359393.3	72	217	0	0.00	0	0	G	NM_022131	0	0	Missense_Mutation	140123400	1	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	51	260	26.09	23.84	18	82	SNP	1	T	T	140123400	G	T	140123400	5	4	97	1	0	0	0	0	0	0	1	0	3562	1246	43	5	443	5	CLSTN2	3	140123400	Splice_Site	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1940147	140123400	57899030	168	1367											
ACPL2	92370	genome.wustl.edu	37	chr3	141011863	141011863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagtgaacattccgtccGgattctttacaatggcgtcg	8	11	10	12	4	1	1	0	1	1	0	4	2	3	2	3	2	2	0	3	2	3	4	rs150898568		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:141011863G>A	ENST00000286353.4	+	6	1396	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	ACPL2_ENST00000504264.1_Missense_Mutation_p.R403Q|ACPL2_ENST00000502783.1_Missense_Mutation_p.R382Q|ACPL2_ENST00000393007.1_Missense_Mutation_p.R404Q|ACPL2_ENST00000393010.2_Missense_Mutation_p.R420Q|ACPL2_ENST00000508812.1_Missense_Mutation_p.R411Q|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		420						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CATTCCGTCCGGATTCTTTAC	0.517																																							0											0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	134	129	131		1259,1259	5.7	0.5	3	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACPL2	NM_001037172.1,NM_152282.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	420/481,420/481	141011863	1,13005	2203	4300	6503	SO:0001583	missense	0																														ENST00000286353.4:c.1259G>A	3.37:g.141011863G>A	ENSP00000286353:p.Arg420Gln		D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.R420Q	ENST00000286353.4	37	c.1259	CCDS3116.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.858604|4.858604	0.91433|0.91433	0.0|0.0	1.16E-4|1.16E-4	ENSG00000155893|ENSG00000155893	ENST00000332228|ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007	.|D;D;D;D;D;D	.|0.83992	.|-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91882|0.91882	0.7430|0.7430	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.985;0.998	D|D	0.91469|0.91469	0.5195|0.5195	6|10	0.48119|0.44086	T|T	0.1|0.13	.|.	17.3907|17.3907	0.87430|0.87430	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|403;420	.|B7Z3R9;Q8TE99	.|.;ACPL2_HUMAN	R|Q	216|420;382;420;403;411;404	.|ENSP00000286353:R420Q;ENSP00000422558:R382Q;ENSP00000376733:R420Q;ENSP00000426877:R403Q;ENSP00000422901:R411Q;ENSP00000376731:R404Q	ENSP00000327587:G216R|ENSP00000286353:R420Q	G|R	+|+	1|2	0|0	ACPL2|ACPL2	142494553|142494553	1.000000|1.000000	0.71417|0.71417	0.482000|0.482000	0.27366|0.27366	0.770000|0.770000	0.43624|0.43624	9.727000|9.727000	0.98787|0.98787	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GGA|CGG	0	pfam_His_Pase_superF_clade-2		0.517	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	protein_coding	OTTHUMT00000359533.2	27	235	0	0.00	0	0	G		rs150898568	G->A		141011863	1	no_errors	ENST00000286353	ensembl	human	known	74_37	missense	21	287	25	21.15	7	77	SNP	0.992	A	A	141011863	G	A	141011863	3	1	97	1	0	0	0	0	1	0	0	0	166	1116	39	2	1277	2	ACPL2	3	141011863	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	888463	141011863	57010567	169	1368											
ATR	545	genome.wustl.edu	37	chr3	142269028	142269028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgttggcaatttcagacaaCgtatttaaagccatttctct	12	14	6	9	2	2	1	1	0	1	1	3	1	2	1	1	1	2	3	1	1	5	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:142269028C>T	ENST00000350721.4	-	14	3043	c.2922G>A	c.(2920-2922)acG>acA	p.T974T	ATR_ENST00000383101.3_Silent_p.T910T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	974					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						TTTCAGACAACGTATTTAAAG	0.398								Other conserved DNA damage response genes																															0											0													147	133	138					3																	142269028		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2922G>A	3.37:g.142269028C>T			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	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.T974	ENST00000350721.4	37	c.2922	CCDS3124.1	3																																																																																			0	superfamily_ARM-type_fold		0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	protein_coding	OTTHUMT00000353995.2	53	165	0	0.00	0	0	C	NM_001184	0	0		142269028	-1	no_errors	ENST00000350721	ensembl	human	known	74_37	silent	62	232	19.48	27.27	15	87	SNP	0.998	T	T	142269028	C	T	142269028	2	4	97	1	0	0	0	0	0	0	0	1	1204	523	19	1		1	ATR	3	142269028	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1257165	142269028	55753402	170	1369											
CHST2	9435	genome.wustl.edu	37	chr3	142840518	142840518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaagtgcccgccacagcGcctggcgcgtttcgaggagg	8	5	15	13	5	0	1	0	0	0	1	1	3	0	2	3	3	2	1	3	3	2	1	rs142680851	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:142840518G>A	ENST00000309575.3	+	2	2244	c.860G>A	c.(859-861)cGc>cAc	p.R287H		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	287					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCGCCACAGCGCCTGGCGCGT	0.642																																							0											0													22	23	23					3																	142840518		2191	4297	6488	SO:0001583	missense	0			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.860G>A	3.37:g.142840518G>A	ENSP00000307911:p.Arg287His		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.R287H	ENST00000309575.3	37	c.860	CCDS3129.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123305	0.77436	.	.	ENSG00000175040	ENST00000309575	D	0.96168	-3.93	4.0	4.0	0.46444	Sulfotransferase domain (1);	0.068359	0.56097	U	0.000035	D	0.90923	0.7147	N	0.17082	0.46	0.36867	D	0.888723	D	0.54207	0.965	P	0.46389	0.515	D	0.92046	0.5644	10	0.45353	T	0.12	-13.2167	11.004	0.47622	0.0918:0.0:0.9082:0.0	.	287	Q9Y4C5	CHST2_HUMAN	H	287	ENSP00000307911:R287H	ENSP00000307911:R287H	R	+	2	0	CHST2	144323208	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.562000	0.67346	2.068000	0.61886	0.407000	0.27541	CGC	0	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase		0.642	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST2	protein_coding	OTTHUMT00000354850.1	35	66	0	0.00	0	0	G	NM_004267	0	0		142840518	1	no_errors	ENST00000309575	ensembl	human	known	74_37	missense	25	77	19.35	23.00	6	23	SNP	1	A	A	142840518	G	A	142840518	3	1	97	1	0	0	0	0	1	0	0	0	3404	1087	38	1	862	1	CHST2	3	142840518	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	571490	142840518	55181912	171	1370											
FAM194A	131831	genome.wustl.edu	37	chr3	150377915	150377915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccacttacgtatcggaGgattggaatctcctcagggt	9	12	10	10	2	3	0	1	0	2	0	6	3	3	3	2	4	1	1	2	4	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:150377915G>A	ENST00000295910.6	-	14	1808	c.1756C>T	c.(1756-1758)Ctc>Ttc	p.L586F	FAM194A_ENST00000491361.1_Missense_Mutation_p.L440F	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACGTATCGGAGGATTGGAATC	0.468																																							0											0													91	93	92					3																	150377915		2203	4300	6503	SO:0001583	missense	0																														ENST00000295910.6:c.1756C>T	3.37:g.150377915G>A	ENSP00000295910:p.Leu586Phe			Missense_Mutation	SNP	NULL	p.L586F	ENST00000295910.6	37	c.1756	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445855	0.25987	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.13778	2.56;2.56	5.22	1.4	0.22301	.	0.482216	0.19383	N	0.115609	T	0.11410	0.0278	L	0.51422	1.61	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.35549	-0.9784	10	0.16896	T	0.51	-5.387	8.0213	0.30410	0.337:0.0:0.663:0.0	.	586	Q7L0X2	F194A_HUMAN	F	586;440;544	ENSP00000295910:L586F;ENSP00000419366:L440F	ENSP00000295910:L586F	L	-	1	0	FAM194A	151860605	0.001000	0.12720	0.001000	0.08648	0.132000	0.20833	0.747000	0.26290	0.310000	0.22990	-0.156000	0.13503	CTC	0	NULL		0.468	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	protein_coding	OTTHUMT00000257666.1	51	177	0	0.00	0	0	G		0	0		150377915	-1	no_errors	ENST00000295910	ensembl	human	known	74_37	missense	33	242	17.5	18.79	7	56	SNP	0	A	A	150377915	G	A	150377915	3	1	97	1	0	0	0	0	1	0	0	0	5526	1000	35	3	239	3	FAM194A	3	150377915	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	7537397	150377915	47644515	172	1371											
AADACL2	344752	genome.wustl.edu	37	chr3	151461924	151461924	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatagatggacggcaaacacGcttgatgctgttgttgtagg	11	11	13	6	2	0	2	0	1	0	1	0	3	0	3	0	3	2	6	0	3	4	5	rs539885775		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:151461924G>A	ENST00000356517.3	+	3	514	c.405G>A	c.(403-405)acG>acA	p.T135T		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	135						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CGGCAAACACGCTTGATGCTG	0.363																																							0											0													168	158	161					3																	151461924		2203	4299	6502	SO:0001819	synonymous_variant	0			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.405G>A	3.37:g.151461924G>A			Q5HYJ4	Silent	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase	p.T135	ENST00000356517.3	37	c.405	CCDS3161.2	3																																																																																			0	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase		0.363	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL2	protein_coding	OTTHUMT00000342288.3	84	248	0	0.40	0	1	G	NM_207365	rs539885775	G->A		151461924	1	no_errors	ENST00000356517	ensembl	human	known	74_37	silent	72	297	27.27	29.05	27	122	SNP	0.046	A	A	151461924	G	A	151461924	2	1	97	1	0	0	0	0	0	0	0	1	11	1074	38	1		1	AADACL2	3	151461924	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1084009	151461924	46560506	173	1372											
SGEF	26084	genome.wustl.edu	37	chr3	153839950	153839950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcccggtggaggacggaGggacgctcctcgcagcgcag	7	6	16	12	5	0	0	0	0	0	0	3	4	2	4	2	5	1	3	2	5	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:153839950G>T	ENST00000356448.4	+	2	453	c.169G>T	c.(169-171)Ggg>Tgg	p.G57W	ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.G57W|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.G57W|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	57					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						GGAGGACGGAGGGACGCTCCT	0.672																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)		0											0													15	18	17					3																	153839950		1917	4131	6048	SO:0001583	missense	0			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.169G>T	3.37:g.153839950G>T	ENSP00000348828:p.Gly57Trp		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	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.G57W	ENST00000356448.4	37	c.169	CCDS46938.1	3	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200803	0.38905	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.57436	0.4;0.4;2.22	3.96	2.16	0.27623	.	0.898917	0.09494	N	0.794535	T	0.31765	0.0807	N	0.14661	0.345	0.09310	N	1	P;P	0.41643	0.758;0.758	B;B	0.36959	0.237;0.171	T	0.15867	-1.0422	10	0.72032	D	0.01	-2.7449	4.9182	0.13856	0.2011:0.1762:0.6227:0.0	.	57;57	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	W	57	ENSP00000348828:G57W;ENSP00000423418:G57W;ENSP00000423295:G57W	ENSP00000348828:G57W	G	+	1	0	ARHGEF26	155322640	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	0.733000	0.26087	0.332000	0.23536	0.561000	0.74099	GGG	0	NULL		0.672	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	protein_coding	OTTHUMT00000353287.3	85	132	0	0.75	0	1	G	NM_015595	0	0		153839950	1	no_errors	ENST00000356448	ensembl	human	known	74_37	missense	95	151	20.17	24.12	24	48	SNP	0.001	T	T	153839950	G	T	153839950	3	4	97	1	0	0	0	0	1	0	0	0	14205	1000	35	5	171	5	SGEF	3	153839950	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2378026	153839950	44182480	174	1373											
KCNAB1	7881	genome.wustl.edu	37	chr3	155838426	155838426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcccggacaggggcagCggggagtcagatctcagagg	9	3	19	10	2	2	2	2	0	1	2	3	4	2	4	1	7	2	2	1	7	0	0	rs370498904		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:155838426C>T	ENST00000490337.1	+	1	90	c.26C>T	c.(25-27)gCg>gTg	p.A9V	KCNAB1_ENST00000389636.5_Missense_Mutation_p.A9V	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	9					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACAGGGGCAGCGGGGAGTCAG	0.488																																							0											0								C	VAL/ALA	0,4406		0,0,2203	114	129	124		26	2.2	0	3		124	2,8598	2.2+/-6.3	0,2,4298	no	missense	KCNAB1	NM_172160.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	9/420	155838426	2,13004	2203	4300	6503	SO:0001583	missense	0			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.26C>T	3.37:g.155838426C>T	ENSP00000419952:p.Ala9Val		A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.A9V	ENST00000490337.1	37	c.26	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096801	0.36952	0.0	2.33E-4	ENSG00000169282	ENST00000490337;ENST00000389636	T;T	0.07908	3.45;3.15	5.33	2.17	0.27698	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46527	-0.9185	9	0.08179	T	0.78	.	6.6311	0.22857	0.0:0.5581:0.0:0.4419	.	9;9	B7Z8E5;Q14722	.;KCAB1_HUMAN	V	9	ENSP00000419952:A9V;ENSP00000374287:A9V	ENSP00000374287:A9V	A	+	2	0	KCNAB1	157321120	0.593000	0.26840	0.003000	0.11579	0.896000	0.52359	0.425000	0.21346	0.630000	0.30394	0.557000	0.71058	GCG	0	NULL		0.488	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	protein_coding	OTTHUMT00000351411.1	63	180	0	0.55	0	1	C	NM_003471	rs370498904	C->T		155838426	1	no_errors	ENST00000490337	ensembl	human	known	74_37	missense	36	229	30.77	22.37	16	66	SNP	0.008	T	T	155838426	C	T	155838426	3	4	97	1	0	0	0	0	1	0	0	0	8009	768	27	1	28	1	KCNAB1	3	155838426	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1998476	155838426	42184004	175	1374											
SLITRK3	22865	genome.wustl.edu	37	chr3	164907221	164907221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcagcttctctatatcGttgccattaaggaagaggct	9	13	11	8	1	2	1	1	0	1	1	4	2	2	2	1	3	2	3	1	3	4	5	rs140074591		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:164907221G>A	ENST00000475390.1	-	2	1841	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	SLITRK3_ENST00000241274.3_Silent_p.N466N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	466					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.N466N(1)		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						TCTCTATATCGTTGCCATTAA	0.473										HNSCC(40;0.11)			G|||	1	0.000199681	0	0	5008	,	,		17925	0.001		0	False		,,,				2504	0						0.9998,0.0001997											1	Substitution - coding silent(1)	large_intestine(1)											57	59	58					3																	164907221		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1398C>T	3.37:g.164907221G>A			Q1RMY6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N466	ENST00000475390.1	37	c.1398	CCDS3197.1	3																																																																																			0	smart_Leu-rich_rpt_typical-subtyp		0.473	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	protein_coding	OTTHUMT00000350126.1	55	209	0	0.00	0	0	G	NM_014926	rs140074591	G->A		164907221	-1	no_errors	ENST00000241274	ensembl	human	known	74_37	silent	55	178	31.25	25.83	25	62	SNP	0.128	A	A	164907221	G	A	164907221	2	1	97	1	0	0	0	0	0	0	0	1	14744	1136	40	1		1	SLITRK3	3	164907221	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	9068795	164907221	33115209	176	1375											
LRRC34	151827	genome.wustl.edu	37	chr3	169514051	169514051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttcactgagatagtttgCgcctgcattttctattctgt	7	18	8	8	1	3	1	1	1	2	1	3	2	3	1	1	0	2	3	1	0	2	7			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:169514051C>T	ENST00000316515.7	-	8	1156	c.880G>A	c.(880-882)Gca>Aca	p.A294T	LRRC34_ENST00000446859.1_Missense_Mutation_p.A339T|LRRC34_ENST00000522830.1_Missense_Mutation_p.A278T|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000522526.2_Missense_Mutation_p.A307T|LRRC34_ENST00000524327.1_5'UTR|RP11-362K14.7_ENST00000602913.1_RNA	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	294										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)			AGATAGTTTGCGCCTGCATTT	0.328																																							0											0													117	115	115					3																	169514051		2202	4300	6502	SO:0001583	missense	0			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.880G>A	3.37:g.169514051C>T	ENSP00000326150:p.Ala294Thr		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.A339T	ENST00000316515.7	37	c.1015		3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970456	0.74246	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.47	4.51	0.55191	.	0.048172	0.85682	D	0.000000	T	0.75287	0.3829	M	0.86864	2.845	0.50171	D	0.999852	D;D;D;D;D	0.89917	0.998;0.992;0.999;1.0;0.999	P;P;D;D;D	0.69142	0.874;0.727;0.962;0.958;0.939	T	0.80221	-0.1472	10	0.62326	D	0.03	-19.9946	16.9331	0.86196	0.1366:0.8634:0.0:0.0	.	326;278;278;339;294	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	T	339;294;278;307	ENSP00000414635:A339T;ENSP00000326150:A294T;ENSP00000429593:A278T;ENSP00000429278:A307T	ENSP00000326150:A294T	A	-	1	0	LRRC34	170996745	0.993000	0.37304	0.865000	0.33974	0.731000	0.41821	3.273000	0.51623	2.558000	0.86282	0.585000	0.79938	GCA	0	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.328	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	protein_coding		34	247	0	0.00	0	0	C	NM_153353	0	0		169514051	-1	no_errors	ENST00000446859	ensembl	human	known	74_37	missense	41	255	24.07	26.09	13	90	SNP	0.792	T	T	169514051	C	T	169514051	3	4	97	1	0	0	0	0	1	0	0	0	8989	768	27	1	413	1	LRRC34	3	169514051	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	4606830	169514051	28508379	177	1376											
USP13	8975	genome.wustl.edu	37	chr3	179470125	179470125	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtagtgcagataaagaagTtcacttttggtcttgactgg	10	14	12	5	0	2	3	1	1	1	2	2	3	2	3	0	3	1	3	0	3	4	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:179470125T>A	ENST00000263966.3	+	14	2233	c.1762T>A	c.(1762-1764)Ttc>Atc	p.F588I	USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Missense_Mutation_p.F523I	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	588	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)			GATAAAGAAGTTCACTTTTGG	0.378																																							0											0													223	209	214					3																	179470125		2203	4300	6503	SO:0001583	missense	0			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.1762T>A	3.37:g.179470125T>A	ENSP00000263966:p.Phe588Ile		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.F588I	ENST00000263966.3	37	c.1762	CCDS3235.1	3	.	.	.	.	.	.	.	.	.	.	T	34	5.301103	0.95601	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T;T	0.44482	0.92;0.92;0.92	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64241	-0.6454	10	0.42905	T	0.14	-16.2995	15.6362	0.76953	0.0:0.0:0.0:1.0	.	588	Q92995	UBP13_HUMAN	I	588;523;234	ENSP00000263966:F588I;ENSP00000417146:F523I;ENSP00000420057:F234I	ENSP00000263966:F588I	F	+	1	0	USP13	180952819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.090000	0.63153	0.460000	0.39030	TTC	0	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67		0.378	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	protein_coding	OTTHUMT00000349617.1	117	244	0	0.00	0	0	T		0	0		179470125	1	no_errors	ENST00000263966	ensembl	human	known	74_37	missense	107	365	15.75	19.78	20	90	SNP	1	A	A	179470125	T	A	179470125	3	1	97	1	0	0	0	0	1	0	0	0	17041	1725	60	5	1816	5	USP13	3	179470125	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	9956074	179470125	18552305	178	1377											
KLHL6	89857	genome.wustl.edu	37	chr3	183209837	183209837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgtcagtttctgggcctCggggtcccagcacagcaccg	5	9	12	15	2	3	0	1	0	2	0	5	0	4	0	3	3	2	3	3	3	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:183209837C>T	ENST00000341319.3	-	7	1779	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	582					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)			TTCTGGGCCTCGGGGTCCCAG	0.657																																							0											0													102	97	99					3																	183209837		2203	4300	6503	SO:0001583	missense	0			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.1744G>A	3.37:g.183209837C>T	ENSP00000341342:p.Glu582Lys		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.E582K	ENST00000341319.3	37	c.1744	CCDS3245.2	3	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203914	0.38905	.	.	ENSG00000172578	ENST00000341319	T	0.78126	-1.15	5.66	5.66	0.87406	Kelch-type beta propeller (1);	0.176476	0.51477	D	0.000099	T	0.71143	0.3305	L	0.41415	1.275	0.45183	D	0.998199	B	0.26935	0.164	B	0.22753	0.041	T	0.65606	-0.6127	10	0.19147	T	0.46	.	19.7288	0.96175	0.0:1.0:0.0:0.0	.	582	Q8WZ60	KLHL6_HUMAN	K	582	ENSP00000341342:E582K	ENSP00000341342:E582K	E	-	1	0	KLHL6	184692531	0.993000	0.37304	0.999000	0.59377	0.987000	0.75469	4.765000	0.62271	2.673000	0.90976	0.491000	0.48974	GAG	0	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.657	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	protein_coding	OTTHUMT00000309024.1	60	95	0	0.00	0	0	C	NM_130446	0	0		183209837	-1	no_errors	ENST00000341319	ensembl	human	known	74_37	missense	51	118	27.14	22.22	19	34	SNP	0.994	T	T	183209837	C	T	183209837	3	4	97	1	0	0	0	0	1	0	0	0	8393	893	31	2	125	2	KLHL6	3	183209837	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3739712	183209837	14812593	179	1378											
KLHL24	54800	genome.wustl.edu	37	chr3	183388867	183388867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaaacagacttagcagcGtagaatgttatgattccttt	13	12	9	7	1	0	3	0	1	0	2	1	3	1	3	1	1	3	4	1	1	6	5	rs141080869	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:183388867G>A	ENST00000454652.2	+	7	1656	c.1270G>A	c.(1270-1272)Gta>Ata	p.V424I	KLHL24_ENST00000242810.6_Missense_Mutation_p.V424I|KLHL24_ENST00000476808.1_Missense_Mutation_p.V424I	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	424						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)			ACTTAGCAGCGTAGAATGTTA	0.388																																							0											0								G	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	231	219	223		1270	5.4	1	3	dbSNP_134	223	0,8600		0,0,4300	yes	missense	KLHL24	NM_017644.3	29	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	probably-damaging	424/601	183388867	8,12998	2203	4300	6503	SO:0001583	missense	0				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.1270G>A	3.37:g.183388867G>A	ENSP00000395012:p.Val424Ile		A5PLN8|Q9H620|Q9NXT9	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.V424I	ENST00000454652.2	37	c.1270	CCDS3246.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.435660	0.96150	0.001816	0.0	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	D;D;D	0.85411	-1.98;-1.98;-1.98	5.36	5.36	0.76844	Galactose oxidase, beta-propeller (1);	0.059484	0.64402	D	0.000003	D	0.92047	0.7480	M	0.77406	2.37	0.80722	D	1	P;D	0.67145	0.856;0.996	B;D	0.63703	0.2;0.917	D	0.92745	0.6211	10	0.72032	D	0.01	.	19.1265	0.93386	0.0:0.0:1.0:0.0	.	424;424	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	I	424	ENSP00000242810:V424I;ENSP00000395012:V424I;ENSP00000419010:V424I	ENSP00000242810:V424I	V	+	1	0	KLHL24	184871561	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.869000	0.99810	2.523000	0.85059	0.655000	0.94253	GTA	0	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.388	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	protein_coding	OTTHUMT00000346586.2	73	195	0	0.00	0	0	G	NM_017644	rs141080869	G->A		183388867	1	no_errors	ENST00000242810	ensembl	human	known	74_37	missense	75	277	21.88	18.71	21	64	SNP	1	A	A	183388867	G	A	183388867	3	1	97	1	0	0	0	0	1	0	0	0	8379	1145	40	1	1284	1	KLHL24	3	183388867	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	179030	183388867	14633563	180	1379											
CAMK2N2	94032	genome.wustl.edu	37	chr3	183979057	183979057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatcttgtcttcgctgtagGgcaggatctcggacatggcg	6	11	13	11	3	3	0	0	0	3	0	5	2	3	2	1	4	0	3	1	4	1	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:183979057G>A	ENST00000296238.3	-	1	194	c.17C>T	c.(16-18)cCc>cTc	p.P6L	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	6						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			TTCGCTGTAGGGCAGGATCTC	0.741																																							0											0													16	17	17					3																	183979057		2201	4299	6500	SO:0001583	missense	0			AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.17C>T	3.37:g.183979057G>A	ENSP00000296238:p.Pro6Leu			Missense_Mutation	SNP	NULL	p.P6L	ENST00000296238.3	37	c.17	CCDS3257.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.072054	0.93950	.	.	ENSG00000163888	ENST00000296238	.	.	.	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.74839	0.3769	.	.	.	0.80722	D	1	D	0.55172	0.97	P	0.60173	0.87	T	0.79271	-0.1872	8	0.87932	D	0	-1.7948	13.4147	0.60961	0.0:0.0:1.0:0.0	.	6	Q96S95	CK2N2_HUMAN	L	6	.	ENSP00000296238:P6L	P	-	2	0	CAMK2N2	185461751	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.436000	0.73417	1.723000	0.51488	0.563000	0.77884	CCC	0	NULL		0.741	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2N2	protein_coding	OTTHUMT00000346010.1	15	55	0	0.00	0	0	G	NM_033259	0	0		183979057	-1	no_errors	ENST00000296238	ensembl	human	known	74_37	missense	14	61	48.28	19.74	14	15	SNP	1	A	A	183979057	G	A	183979057	3	1	97	1	0	0	0	0	1	0	0	0	2604	1232	43	3	230	3	CAMK2N2	3	183979057	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	590190	183979057	14043373	181	1380											
EPHB3	2049	genome.wustl.edu	37	chr3	184295133	184295133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctctgctcttcccagccCcgtctgaagtgcccacacta	6	9	7	19	1	3	1	0	1	3	0	4	1	4	1	5	0	3	1	5	0	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:184295133C>A	ENST00000330394.2	+	6	1809	c.1357C>A	c.(1357-1359)Ccg>Acg	p.P453T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	453	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTTCCCAGCCCCGTCTGAAGT	0.647																																							0											0													39	43	42					3																	184295133		2203	4300	6503	SO:0001583	missense	0			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1357C>A	3.37:g.184295133C>A	ENSP00000332118:p.Pro453Thr		Q7Z740	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.P453T	ENST00000330394.2	37	c.1357	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792800	0.90453	.	.	ENSG00000182580	ENST00000330394	T	0.63096	-0.02	5.6	5.6	0.85130	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	H	0.95365	3.66	0.80722	D	1	D	0.65815	0.995	P	0.57009	0.811	D	0.88395	0.3011	10	0.87932	D	0	.	18.6062	0.91266	0.0:1.0:0.0:0.0	.	453	P54753	EPHB3_HUMAN	T	453	ENSP00000332118:P453T	ENSP00000332118:P453T	P	+	1	0	EPHB3	185777827	1.000000	0.71417	0.992000	0.48379	0.855000	0.48748	7.771000	0.85420	2.649000	0.89929	0.448000	0.29417	CCG	0	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	protein_coding	OTTHUMT00000345413.1	30	91	0	1.09	0	1	C	NM_004443	0	0		184295133	1	no_errors	ENST00000330394	ensembl	human	known	74_37	missense	31	73	20.51	21.51	8	20	SNP	1	A	A	184295133	C	A	184295133	3	1	97	1	0	0	0	0	1	0	0	0	5176	623	22	5	1379	5	EPHB3	3	184295133	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	316076	184295133	13727297	182	1381											
MAP3K13	9175	genome.wustl.edu	37	chr3	185190885	185190885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatatcgaagcaaaccacGccaccgccgagggaatagca	14	3	10	14	5	0	0	0	0	0	0	1	4	0	1	5	1	3	2	5	1	5	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:185190885G>A	ENST00000265026.3	+	11	2100	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	MAP3K13_ENST00000424227.1_Missense_Mutation_p.R589H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R382H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R445H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R445H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											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)			AGCAAACCACGCCACCGCCGA	0.552																																							0											0													203	225	218					3																	185190885		2203	4300	6503	SO:0001583	missense	0			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.1766G>A	3.37:g.185190885G>A	ENSP00000265026:p.Arg589His			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.R589H	ENST00000265026.3	37	c.1766	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.236366	0.95240	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	5.47	5.47	0.80525	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.12268	-1.0554	10	0.56958	D	0.05	.	19.3275	0.94268	0.0:0.0:1.0:0.0	.	445;382;589	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	382;589;445;445;589	ENSP00000411483:R382H;ENSP00000399910:R589H;ENSP00000409325:R445H;ENSP00000439257:R445H;ENSP00000265026:R589H	ENSP00000265026:R589H	R	+	2	0	MAP3K13	186673579	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.559000	0.98135	2.552000	0.86080	0.561000	0.74099	CGC	0	pirsf_MAP3K12_MAP3K13,superfamily_Kinase-like_dom		0.552	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	protein_coding	OTTHUMT00000345268.1	82	199	0	0.00	0	0	G	NM_004721	0	0		185190885	1	no_errors	ENST00000265026	ensembl	human	known	74_37	missense	75	239	13.79	23.32	12	73	SNP	1	A	A	185190885	G	A	185190885	3	1	97	1	0	0	0	0	1	0	0	0	9247	1087	38	1	1804	1	MAP3K13	3	185190885	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	895752	185190885	12831545	183	1382											
LEPREL1	55214	genome.wustl.edu	37	chr3	189681863	189681863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgagaagctgatcatgcGcccacattttggttttatag	11	13	10	7	1	1	3	1	2	0	2	1	4	1	3	1	1	2	2	1	1	3	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:189681863G>A	ENST00000319332.5	-	14	2115	c.1918C>T	c.(1918-1920)Cgc>Tgc	p.R640C	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R459C	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	640	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)	CTGATCATGCGCCCACATTTT	0.463																																							0											0													79	78	78					3																	189681863		2203	4300	6503	SO:0001583	missense	0				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.1918C>T	3.37:g.189681863G>A	ENSP00000316881:p.Arg640Cys		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R640C	ENST00000319332.5	37	c.1918	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107911	0.77096	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.63417	-0.04;-0.04	5.91	5.91	0.95273	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81433	-0.0935	9	.	.	.	-14.1731	15.6677	0.77242	0.0:0.0:0.8627:0.1373	.	640	Q8IVL5	P3H2_HUMAN	C	640;459	ENSP00000316881:R640C;ENSP00000408947:R459C	.	R	-	1	0	LEPREL1	191164557	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	3.347000	0.52200	2.793000	0.96121	0.655000	0.94253	CGC	0	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph		0.463	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	protein_coding	OTTHUMT00000343855.1	38	137	0	0.00	0	0	G	NM_018192	0	0		189681863	-1	no_errors	ENST00000319332	ensembl	human	known	74_37	missense	41	239	21.15	18.43	11	54	SNP	0.989	A	A	189681863	G	A	189681863	3	1	97	1	0	0	0	0	1	0	0	0	8730	1087	38	1	216	1	LEPREL1	3	189681863	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	4490978	189681863	8340567	184	1383											
C3orf59	151963	genome.wustl.edu	37	chr3	192516279	192516280	+	Frame_Shift_Ins	INS	-	-	T																															tcagtcactagctgctgcagINStttttttgccaaacggtcat																								rs34835215		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:192516279_192516280insT	ENST00000392452.2	-	2	1691_1692	c.1371_1372insA	c.(1369-1374)aaactgfs	p.L458fs		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	458							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AGCTGCTGCAGTTTTTTTGCCA	0.51																																							0											0																																										SO:0001589	frameshift_variant	0			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.1372dupA	3.37:g.192516286_192516286dupT	ENSP00000376246:p.Leu458fs		Q86VD8	Frame_Shift_Ins	INS	pfam_Mab-21_dom	p.L457fs	ENST00000392452.2	37	c.1372_1371	CCDS3302.2	3																																																																																			0	NULL		0.51	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	protein_coding	OTTHUMT00000341543.1	28	205	0	0.00	0	0	0	NM_178496	rs34835215	G->GT		192516280	-1	no_errors	ENST00000392452	ensembl	human	known	74_37	frame_shift_ins	17	239	41.38	17.30	12	50	INS	1.000:1.000	T	T	192516280	-	T	192516279	7	5	97	1	0	1	1	0	0	0	0	0	2237	1020	36	0	107	0	C3orf59	3	192516279	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	2834416	192516279	5506151	185	1384											
MYL5	4636	genome.wustl.edu	37	chr4	673725	673725	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccaacgtcaaggacgaCgagctggacgccatgctcaa	14	4	11	12	4	2	1	2	0	0	1	2	5	2	3	2	2	3	2	2	2	4	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:673725C>T	ENST00000400159.2	+	4	315	c.210C>T	c.(208-210)gaC>gaT	p.D70D	MYL5_ENST00000505477.1_Silent_p.D29D|MYL5_ENST00000511290.1_Silent_p.D29D|MYL5_ENST00000506838.1_Silent_p.D29D	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	70					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						TCAAGGACGACGAGCTGGACG	0.612																																							0											0													88	102	97					4																	673725		2197	4299	6496	SO:0001819	synonymous_variant	0				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.210C>T	4.37:g.673725C>T			Q8IXL8	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D70	ENST00000400159.2	37	c.210	CCDS43197.1	4																																																																																			0	NULL		0.612	MYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL5	protein_coding	OTTHUMT00000358570.2	49	82	0	0.00	0	0	C	NM_002477	0	0		673725	1	no_errors	ENST00000400159	ensembl	human	known	74_37	silent	22	90	12	23.73	3	28	SNP	0.011	T	T	673725	C	T	673725	2	4	97	1	0	0	0	0	0	0	0	1	10050	535	19	1		1	MYL5	4	673725	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09		673725	190480551	186	1385											
TMEM175	84286	genome.wustl.edu	37	chr4	947094	947094	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcgtcctccaaggcccGgccctgtgctttgcagcggc	4	8	13	16	3	0	0	0	0	0	0	3	0	2	0	4	4	3	3	4	4	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:947094G>T	ENST00000264771.4	+	8	764	c.579G>T	c.(577-579)ccG>ccT	p.P193P	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Silent_p.P77P|TMEM175_ENST00000508204.1_Silent_p.P111P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	193						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCAAGGCCCGGCCCTGTGCT	0.652																																							0											0													132	114	120					4																	947094		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.579G>T	4.37:g.947094G>T			D3DVN4|Q8ND13	Silent	SNP	pfam_DUF1211_TMEM175	p.P193	ENST00000264771.4	37	c.579	CCDS3341.1	4																																																																																			0	NULL		0.652	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM175	protein_coding	OTTHUMT00000239193.2	14	76	0	0.00	0	0	G	NM_032326	0	0		947094	1	no_errors	ENST00000264771	ensembl	human	known	74_37	silent	6	80	45.45	19.19	5	19	SNP	0	T	T	947094	G	T	947094	2	4	97	1	0	0	0	0	0	0	0	1	16088	1103	39	5		5	TMEM175	4	947094	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	273369	947094	190207182	187	1386											
FGFR3	2261	genome.wustl.edu	37	chr4	1807583	1807583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcgacacctgcaagccGcccgaggagcagctcacctt	8	7	9	17	3	1	0	1	0	0	0	3	3	2	1	5	1	4	3	5	1	1	2	rs139020690		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:1807583G>A	ENST00000260795.2	+	12	1854	c.1752G>A	c.(1750-1752)ccG>ccA	p.P584P	FGFR3_ENST00000340107.4_Silent_p.P586P|FGFR3_ENST00000352904.1_Silent_p.P472P|FGFR3_ENST00000412135.2_Silent_p.P472P|FGFR3_ENST00000440486.2_Silent_p.P584P|FGFR3_ENST00000481110.2_Silent_p.P585P			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	584	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)	CCTGCAAGCCGCCCGAGGAGC	0.677		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																														0		Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	0								G	,,	0,4404		0,0,2202	45	55	52		1752,1758,1416	2.4	1	4	dbSNP_134	52	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	FGFR3	NM_000142.4,NM_001163213.1,NM_022965.3	,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,,	584/807,586/809,472/695	1807583	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	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.1752G>A	4.37:g.1807583G>A			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.P586	ENST00000260795.2	37	c.1758	CCDS3353.1	4																																																																																			0	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		0.677	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FGFR3	protein_coding	OTTHUMT00000241632.2	67	79	0	0.00	0	0	G	NM_000142	rs139020690	G->A		1807583	1	no_errors	ENST00000340107	ensembl	human	known	74_37	silent	39	101	22	27.34	11	38	SNP	0.999	A	A	1807583	G	A	1807583	2	1	97	1	0	0	0	0	0	0	0	1	5867	1074	38	1		1	FGFR3	4	1807583	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	860489	1807583	189346693	188	1387											
RGS12	6002	genome.wustl.edu	37	chr4	3319272	3319272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggcagcgcgtgggacGgtgtgggtgggaggggtgcc	4	5	24	8	4	0	0	0	0	0	0	0	3	0	3	2	8	2	1	2	8	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:3319272G>A	ENST00000344733.5	+	2	2279	c.1375G>A	c.(1375-1377)Ggt>Agt	p.G459S	RGS12_ENST00000336727.3_Missense_Mutation_p.G459S|RGS12_ENST00000543385.1_Missense_Mutation_p.G459S|RGS12_ENST00000382788.3_Missense_Mutation_p.G459S	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	459					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)		CGCGTGGGACGGTGTGGGTGG	0.682																																							0											0													35	43	40					4																	3319272		2203	4299	6502	SO:0001583	missense	0			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.1375G>A	4.37:g.3319272G>A	ENSP00000339381:p.Gly459Ser		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.G459S	ENST00000344733.5	37	c.1375	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	G	1.308	-0.602906	0.03744	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.25579	1.79;1.88;1.88;1.88	3.88	1.86	0.25419	.	0.610798	0.17634	N	0.167267	T	0.11580	0.0282	N	0.22421	0.69	0.18873	N	0.999989	B;B;B	0.20052	0.041;0.008;0.014	B;B;B	0.12837	0.003;0.003;0.008	T	0.34825	-0.9813	10	0.02654	T	1	-5.6464	5.8878	0.18892	0.3717:0.0:0.6283:0.0	.	459;459;459	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	S	459	ENSP00000440566:G459S;ENSP00000339381:G459S;ENSP00000338509:G459S;ENSP00000372238:G459S	ENSP00000338509:G459S	G	+	1	0	RGS12	3289070	0.445000	0.25657	0.012000	0.15200	0.153000	0.21895	2.518000	0.45537	0.817000	0.34445	0.491000	0.48974	GGT	0	NULL		0.682	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	protein_coding	OTTHUMT00000206602.1	44	99	0	0.00	0	0	G	NM_002926	0	0		3319272	1	no_errors	ENST00000344733	ensembl	human	known	74_37	missense	18	103	41.94	33.33	13	52	SNP	0.017	A	A	3319272	G	A	3319272	3	1	97	1	0	0	0	0	1	0	0	0	13295	1116	39	2	1377	2	RGS12	4	3319272	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1511689	3319272	187835004	189	1388											
SH3TC1	54436	genome.wustl.edu	37	chr4	8229977	8229977	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacatcctgcagtctgtccgGgatgcagtggtggccagcga	7	8	15	11	2	1	0	0	0	1	0	3	3	3	1	3	3	3	2	3	3	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:8229977G>A	ENST00000245105.3	+	12	2623	c.2556G>A	c.(2554-2556)cgG>cgA	p.R852R	SH3TC1_ENST00000539824.1_Silent_p.R776R	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	852										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGTCTGTCCGGGATGCAGTGG	0.677																																					NSCLC(145;2298 2623 35616 37297)		0											0													36	35	35					4																	8229977		2203	4299	6502	SO:0001819	synonymous_variant	0			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.2556G>A	4.37:g.8229977G>A			Q4W5G5	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.R852	ENST00000245105.3	37	c.2556	CCDS3399.1	4																																																																																			0	NULL		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	protein_coding	OTTHUMT00000206991.2	16	100	0	0.00	0	0	G	NM_018986	0	0		8229977	1	no_errors	ENST00000245105	ensembl	human	known	74_37	silent	7	70	22.22	23.08	2	21	SNP	0	A	A	8229977	G	A	8229977	2	1	97	1	0	0	0	0	0	0	0	1	14261	1219	43	3		3	SH3TC1	4	8229977	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	4910705	8229977	182924299	190	1389											
CPZ	8532	genome.wustl.edu	37	chr4	8609110	8609110	+	Frame_Shift_Del	DEL	C	C	-																															cccttcgacttctccaagcaCccccaggaggagaagatgtt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:8609110delC	ENST00000360986.4	+	7	1359	c.1185delC	c.(1183-1185)cacfs	p.H395fs	CPZ_ENST00000315782.6_Frame_Shift_Del_p.H384fs|CPZ_ENST00000382480.2_Frame_Shift_Del_p.H258fs|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	395					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						TCTCCAAGCACCCCCAGGAGG	0.602											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													115	97	103					4																	8609110		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1185delC	4.37:g.8609110delC	ENSP00000354255:p.His395fs	650	O00520|Q96MX2	Frame_Shift_Del	DEL	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.Q397fs	ENST00000360986.4	37	c.1185	CCDS33953.1	4																																																																																			0	pfam_Peptidase_M14,smart_Peptidase_M14		0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	protein_coding	OTTHUMT00000207001.4	55	154	0	0.00	0	0	C	NM_003652	0	0		8609110	1	no_errors	ENST00000360986	ensembl	human	known	74_37	frame_shift_del	22	129	29.03	28.73	9	52	DEL	0.997	0	-	8609110	C	-	8609110	7	5	97	1	0	1	0	1	0	0	0	0	3839	506	18	0	1211	0	CPZ	4	8609110	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	379133	8609110	182545166	191	1390											
WDR1	9948	genome.wustl.edu	37	chr4	10089931	10089931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactgcgtaaatcccacCgtcgtgggccttgcttccgc	6	10	9	16	4	1	0	1	0	0	0	4	0	3	0	4	1	2	2	4	1	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:10089931C>T	ENST00000499869.2	-	7	896	c.703G>A	c.(703-705)Ggt>Agt	p.G235S	WDR1_ENST00000382451.2_Missense_Mutation_p.G95S|WDR1_ENST00000382452.2_Missense_Mutation_p.G235S|WDR1_ENST00000502702.1_Missense_Mutation_p.G95S|WDR1_ENST00000515743.1_5'UTR			O75083	WDR1_HUMAN	WD repeat domain 1	235					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)		TAAATCCCACCGTCGTGGGCC	0.537																																							0											0													52	53	53					4																	10089931		2056	4143	6199	SO:0001583	missense	0			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.703G>A	4.37:g.10089931C>T	ENSP00000427687:p.Gly235Ser		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.G235S	ENST00000499869.2	37	c.703	CCDS54740.1	4	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658784	0.88154	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733;ENST00000508079	T;T;T;T;T	0.59502	1.37;1.37;0.26;0.26;0.58	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	T	0.67998	0.2953	L	0.35793	1.09	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	0.64976	-0.6280	10	0.33141	T	0.24	-13.1316	17.9415	0.89027	0.0:1.0:0.0:0.0	.	70;95;235	B4DY05;O75083-3;O75083	.;.;WDR1_HUMAN	S	235;235;95;95;70;239	ENSP00000427687:G235S;ENSP00000371890:G235S;ENSP00000371889:G95S;ENSP00000426725:G95S;ENSP00000425481:G239S	ENSP00000371889:G95S	G	-	1	0	WDR1	9699029	1.000000	0.71417	0.672000	0.29872	0.250000	0.25880	6.903000	0.75703	2.482000	0.83794	0.563000	0.77884	GGT	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.537	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR1	protein_coding	OTTHUMT00000359877.1	52	208	1.89	0.48	1	1	C		0	0		10089931	-1	no_errors	ENST00000382452	ensembl	human	known	74_37	missense	29	194	30.95	23.32	13	59	SNP	1	T	T	10089931	C	T	10089931	3	4	97	1	0	0	0	0	1	0	0	0	17269	652	23	2	1153	2	WDR1	4	10089931	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1480821	10089931	181064345	192	1391											
ZNF518B	85460	genome.wustl.edu	37	chr4	10446515	10446515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagaatgaccttttaaggCaacggaaggaaaagcagttc	16	8	11	6	1	0	2	0	1	0	1	1	5	0	4	1	3	2	3	1	3	7	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:10446515C>T	ENST00000326756.3	-	3	1876	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	480					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						CCTTTTAAGGCAACGGAAGGA	0.343																																							0											0													71	75	74					4																	10446515		2203	4300	6503	SO:0001583	missense	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1438G>A	4.37:g.10446515C>T	ENSP00000317614:p.Ala480Thr		Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A480T	ENST00000326756.3	37	c.1438	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919843	0.52653	.	.	ENSG00000178163	ENST00000326756	T	0.01947	4.54	5.43	-1.5	0.08691	.	1.010160	0.07960	N	0.982164	T	0.01870	0.0059	N	0.22421	0.69	0.09310	N	1	P	0.35745	0.518	B	0.30401	0.115	T	0.48822	-0.9001	10	0.48119	T	0.1	-6.3153	10.2323	0.43262	0.5754:0.3554:0.0:0.0692	.	480	Q9C0D4	Z518B_HUMAN	T	480	ENSP00000317614:A480T	ENSP00000317614:A480T	A	-	1	0	ZNF518B	10055613	0.034000	0.19679	0.001000	0.08648	0.348000	0.29142	0.066000	0.14489	-0.141000	0.11374	0.655000	0.94253	GCC	0	NULL		0.343	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	protein_coding	OTTHUMT00000359040.1	58	335	0	0.30	0	1	C	NM_053042	0	0		10446515	-1	no_errors	ENST00000326756	ensembl	human	known	74_37	missense	41	244	24.07	24.07	13	78	SNP	0	T	T	10446515	C	T	10446515	3	4	97	1	0	0	0	0	1	0	0	0	17960	710	25	3	1790	3	ZNF518B	4	10446515	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	356584	10446515	180707761	193	1392											
SLC34A2	10568	genome.wustl.edu	37	chr4	25674846	25674846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctcaaggggcaggtcGccactgtcatcaagaagacc	10	7	12	12	1	3	2	3	0	0	2	4	2	3	2	2	3	1	2	2	3	3	0	rs560657112		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:25674846G>A	ENST00000382051.3	+	10	1236	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A395T|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A395T	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	396					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)				GGGGCAGGTCGCCACTGTCAT	0.537			T	ROS1	NSCLC								G|||	1	0.000199681	0	0.0014	5008	,	,		18660	0		0	False		,,,				2504	0						0.9998,0.0001997		Dom	yes		4	4p15.2	10568	"solute carrier family 34 (sodium phosphate), member 2"		E	0													138	115	122					4																	25674846		2203	4300	6503	SO:0001583	missense	0			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.1186G>A	4.37:g.25674846G>A	ENSP00000371483:p.Ala396Thr		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt	p.A396T	ENST00000382051.3	37	c.1186	CCDS3435.1	4	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099774	0.56183	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.86164	-2.08;-2.08;-2.08	5.2	5.2	0.72013	.	0.050649	0.85682	D	0.000000	D	0.91788	0.7402	M	0.81112	2.525	0.80722	D	1	D;D	0.67145	0.994;0.996	P;P	0.57720	0.733;0.826	D	0.92031	0.5633	10	0.52906	T	0.07	-20.659	13.997	0.64409	0.0:0.0:0.8487:0.1513	.	395;396	O95436-2;O95436	.;NPT2B_HUMAN	T	395;396;395	ENSP00000425501:A395T;ENSP00000371483:A396T;ENSP00000423021:A395T	ENSP00000371483:A396T	A	+	1	0	SLC34A2	25283944	1.000000	0.71417	0.111000	0.21465	0.017000	0.09413	7.871000	0.87180	2.596000	0.87737	0.561000	0.74099	GCC	0	pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt		0.537	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	protein_coding	OTTHUMT00000214990.1	19	49	0	0.00	0	0	G	NM_006424	rs560657112	G->A		25674846	1	no_errors	ENST00000382051	ensembl	human	known	74_37	missense	15	45	25	29.69	5	19	SNP	0.997	A	A	25674846	G	A	25674846	3	1	97	1	0	0	0	0	1	0	0	0	14568	1087	38	1	1220	1	SLC34A2	4	25674846	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	15228331	25674846	165479430	194	1393											
PDS5A	23244	genome.wustl.edu	37	chr4	39875961	39875961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgaatatggcgtgtataCagtgcacagcctgttttgct	8	15	11	7	1	0	1	0	1	0	0	0	1	0	1	1	1	4	4	1	1	4	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:39875961C>T	ENST00000303538.8	-	20	2764	c.2225G>A	c.(2224-2226)tGt>tAt	p.C742Y		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						GGCGTGTATACAGTGCACAGC	0.328																																							0											0													124	114	117					4																	39875961		1826	4084	5910	SO:0001583	missense	0			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.2225G>A	4.37:g.39875961C>T	ENSP00000303427:p.Cys742Tyr			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C742Y	ENST00000303538.8	37	c.2225	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729373	0.89390	.	.	ENSG00000121892	ENST00000303538	T	0.67345	-0.26	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82719	0.5098	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.83017	-0.0169	9	.	.	.	-7.2481	19.1434	0.93455	0.0:1.0:0.0:0.0	.	742	Q29RF7	PDS5A_HUMAN	Y	742	ENSP00000303427:C742Y	.	C	-	2	0	PDS5A	39552356	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.729000	0.84864	2.527000	0.85204	0.655000	0.94253	TGT	0	superfamily_ARM-type_fold		0.328	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	protein_coding	OTTHUMT00000361287.1	168	282	0	0.00	0	0	C	NM_015200	0	0		39875961	-1	no_errors	ENST00000303538	ensembl	human	known	74_37	missense	90	234	23.73	28.79	28	95	SNP	1	T	T	39875961	C	T	39875961	3	4	97	1	0	0	0	0	1	0	0	0	11691	478	17	3	1844	3	PDS5A	4	39875961	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	14201115	39875961	151278315	195	1394											
SLC10A4	201780	genome.wustl.edu	37	chr4	48485994	48485994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgtcggcccgtgggcgCgctgctggcagcgctctgcc	1	7	16	17	7	1	0	0	0	1	0	3	0	2	0	3	3	3	4	3	3	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:48485994C>T	ENST00000273861.4	+	1	635	c.416C>T	c.(415-417)gCg>gTg	p.A139V		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCCGTGGGCGCGCTGCTGGCA	0.716																																							0											0													7	7	7					4																	48485994		2154	4180	6334	SO:0001583	missense	0			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.416C>T	4.37:g.48485994C>T	ENSP00000273861:p.Ala139Val		Q8WUZ2	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.A139V	ENST00000273861.4	37	c.416	CCDS3482.1	4	.	.	.	.	.	.	.	.	.	.	c	14.45	2.538886	0.45176	.	.	ENSG00000145248	ENST00000273861	T	0.07327	3.2	5.2	4.27	0.50696	.	0.175644	0.49916	D	0.000134	T	0.01489	0.0048	N	0.00315	-1.66	0.33850	D	0.632558	B	0.16802	0.019	B	0.13407	0.009	T	0.40701	-0.9549	10	0.02654	T	1	-13.8046	4.5553	0.12133	0.0:0.7205:0.0:0.2795	.	139	Q96EP9	NTCP4_HUMAN	V	139	ENSP00000273861:A139V	ENSP00000273861:A139V	A	+	2	0	SLC10A4	48180751	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.801000	0.69115	2.706000	0.92434	0.486000	0.48141	GCG	0	pfam_BilAc/Na_symport		0.716	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A4	protein_coding	OTTHUMT00000219926.3	25	12	0	0.00	0	0	C	NM_152679	0	0		48485994	1	no_errors	ENST00000273861	ensembl	human	known	74_37	missense	16	11	27.27	35.29	6	6	SNP	1	T	T	48485994	C	T	48485994	3	4	97	1	0	0	0	0	1	0	0	0	14376	768	27	1	418	1	SLC10A4	4	48485994	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	8610033	48485994	142668282	196	1395											
FIP1L1	81608	genome.wustl.edu	37	chr4	54319247	54319248	+	Frame_Shift_Ins	INS	-	-	AG																															acagagaaagagaacgcaccINSagagagagagagagggagcg																								rs143671659		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	AG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:54319247_54319248insAG	ENST00000337488.6	+	16	1640_1641	c.1446_1447insAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000306932.6_Frame_Shift_Ins_p.R409fs|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Ins_p.R477fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			gagaACGCACCAGAGAGAGAGA	0.465			T	PDGFRA	idiopathic hypereosinophilic syndrome																																		0		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	2	Deletion - Frameshift(2)	large_intestine(1)|kidney(1)																																								SO:0001589	frameshift_variant	0			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1459_1460dupAG	4.37:g.54319256_54319257dupAG	ENSP00000336752:p.Arg483fs		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Ins	INS	pfam_Fip1	p.E486fs	ENST00000337488.6	37	c.1446_1447	CCDS3491.1	4																																																																																			0	NULL		0.465	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	protein_coding	OTTHUMT00000250602.1	33	94	0	1.05	0	1	0	NM_030917	0	0		54319248	1	no_errors	ENST00000337488	ensembl	human	known	74_37	frame_shift_ins	16	122	27.27	19.21	6	29	INS	0.997:0.975	AG	AG	54319248	-	AG	54319247	7	5	97	1	0	1	1	0	0	0	0	0	5896	581	21	0	1539	0	FIP1L1	4	54319247	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	5833253	54319247	136835029	197	1396											
CENPC1	1060	genome.wustl.edu	37	chr4	68379808	68379808	+	Frame_Shift_Del	DEL	T	T	-																															ttacccacaggtggcatctgTtttttggaaacacaatcatt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:68379808delT	ENST00000273853.6	-	8	1678	c.1428delA	c.(1426-1428)aaafs	p.K476fs		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	476					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)										GTGGCATCTGTTTTTTGGAAA	0.323																																							0											0													72	64	66					4																	68379808		1832	4077	5909	SO:0001589	frameshift_variant	0			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.1428delA	4.37:g.68379808delT	ENSP00000273853:p.Lys476fs		Q8IW27|Q9P0M5	Frame_Shift_Del	DEL	pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin	p.K476fs	ENST00000273853.6	37	c.1428	CCDS47063.1	4																																																																																			0	NULL		0.323	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC	protein_coding	OTTHUMT00000362001.2	91	266	0	0.00	0	0	T		0	0		68379808	-1	no_errors	ENST00000273853	ensembl	human	known	74_37	frame_shift_del	48	185	25	25.40	16	63	DEL	0.061	0	-	68379808	T	-	68379808	7	5	97	1	0	1	0	1	0	0	0	0	3229	1722	60	0	1451	0	CENPC1	4	68379808	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	14060561	68379808	122774468	198	1397											
UGT2B10	7365	genome.wustl.edu	37	chr4	69688085	69688085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacagaagaaagggccaacGtaattgcaacagcccttgcc	14	6	10	11	1	0	3	0	1	0	2	0	3	0	3	3	1	5	2	3	1	5	3	rs369643682		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:69688085G>A	ENST00000265403.7	+	3	991	c.964G>A	c.(964-966)Gta>Ata	p.V322I	UGT2B10_ENST00000458688.2_Missense_Mutation_p.V238I	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	322					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAGGGCCAACGTAATTGCAAC	0.443																																					Melanoma(133;755 1763 25578 26334 46021)		0											0								G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	164	146	152		712,964	-3	0	4		152	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UGT2B10	NM_001144767.1,NM_001075.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	238/445,322/529	69688085	1,13005	2203	4300	6503	SO:0001583	missense	0			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.964G>A	4.37:g.69688085G>A	ENSP00000265403:p.Val322Ile		A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V322I	ENST00000265403.7	37	c.964		4	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.336431	0.01287	0.0	1.16E-4	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.61158	0.13;3.33	2.55	-2.97	0.05530	.	0.326119	0.28724	U	0.014349	T	0.32585	0.0834	L	0.31065	0.9	0.09310	N	1	B;B	0.21520	0.048;0.057	B;B	0.18263	0.021;0.005	T	0.15037	-1.0451	10	0.16420	T	0.52	.	4.4374	0.11557	0.5107:0.176:0.3133:0.0	.	238;322	B4DPP1;P36537	.;UDB10_HUMAN	I	322;238	ENSP00000265403:V322I;ENSP00000413420:V238I	ENSP00000265403:V322I	V	+	1	0	UGT2B10	69722674	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.898000	0.04105	-0.549000	0.06191	0.184000	0.17185	GTA	0	pfam_UDP_glucos_trans		0.443	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	UGT2B10	protein_coding	OTTHUMT00000365169.1	270	0	0.37	0.00	1	0	G	NM_001075	rs369643682	G->A		69688085	1	no_errors	ENST00000265403	ensembl	human	known	74_37	missense	144	0	27.27	0.00	54	0	SNP	0.013	A	A	69688085	G	A	69688085	3	1	97	1	0	0	0	0	1	0	0	0	16953	1145	40	1	974	1	UGT2B10	4	69688085	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1308277	69688085	121466191	199	1398											
UGT2A3	79799	genome.wustl.edu	37	chr4	69795582	69795583	+	Frame_Shift_Ins	INS	-	-	A																															taaatttttgacaggaaaatINSaaaaaacattttgtgaacaa																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:69795582_69795583insA	ENST00000251566.4	-	6	1562_1563	c.1532_1533insT	c.(1531-1533)ttafs	p.L511fs	UGT2A3_ENST00000420231.2_Frame_Shift_Ins_p.L222fs	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	511					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						GACAGGAAAATAAAAAACATTT	0.381																																							0											0										2,4264		0,2,2131						-0.2	0			39	0,8254		0,0,4127	no	frameshift	UGT2A3	NM_024743.3		0,2,6258	A1A1,A1R,RR		0.0,0.0469,0.016				2,12518				SO:0001589	frameshift_variant	0				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.1533dupT	4.37:g.69795588_69795588dupA	ENSP00000251566:p.Leu511fs		Q9H6S4	Frame_Shift_Ins	INS	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L511fs	ENST00000251566.4	37	c.1533_1532	CCDS3525.1	4																																																																																			0	pfam_UDP_glucos_trans		0.381	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	protein_coding	OTTHUMT00000251564.1	84	86	0	0.00	0	0	0	NM_024743	0	0		69795583	-1	no_errors	ENST00000251566	ensembl	human	known	74_37	frame_shift_ins	45	45	35.71	27.42	25	17	INS	0.027:0.056	A	A	69795583	-	A	69795582	7	5	97	1	0	1	1	0	0	0	0	0	16952	1403	49	0	54	0	UGT2A3	4	69795582	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	107497	69795582	121358694	200	1399											
COX18	285521	genome.wustl.edu	37	chr4	73930982	73930982	+	Frame_Shift_Del	DEL	C	C	-																															attaccttctgaatgtgctgCccccgtgcttaaattccgga																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:73930982delC	ENST00000295890.4	-	3	674	c.583delG	c.(583-585)gcafs	p.A196fs	COX18_ENST00000507544.2_Frame_Shift_Del_p.A196fs	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	196					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAATGTGCTGCCCCCGTGCTT	0.378																																							0											0													88	84	85					4																	73930982		2203	4300	6503	SO:0001589	frameshift_variant	0			AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"Mitochondrial respiratory chain complex assembly factors"	26801	protein-coding gene	gene with protein product		610428	"COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)", "cytochrome c oxidase assembly homolog 18 (yeast)"			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.583delG	4.37:g.73930982delC	ENSP00000295890:p.Ala196fs		Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Frame_Shift_Del	DEL	pfam_Membrane_insert_OXA1/ALB3/YidC	p.A195fs	ENST00000295890.4	37	c.583	CCDS3554.1	4																																																																																			0	pfam_Membrane_insert_OXA1/ALB3/YidC		0.378	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COX18	protein_coding	OTTHUMT00000252169.2	79	107	0	0.00	0	0	C	NM_173827	0	0		73930982	-1	no_errors	ENST00000295890	ensembl	human	known	74_37	frame_shift_del	65	74	22.62	28.16	19	29	DEL	0.018	0	-	73930982	C	-	73930982	7	5	97	1	0	1	0	1	0	0	0	0	3767	739	26	0	434	0	COX18	4	73930982	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	4135400	73930982	117223294	201	1400											
ATOH1	474	genome.wustl.edu	37	chr4	94750382	94750382	+	Frame_Shift_Del	DEL	G	G	-																															ccgggacgaggtggacggccGgggggagctggtaaggagga																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:94750382delG	ENST00000306011.3	+	1	341	c.305delG	c.(304-306)cggfs	p.R102fs		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	102					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)		GTGGACGGCCGGGGGGAGCTG	0.692																																							0											0													11	16	14					4																	94750382		2173	4259	6432	SO:0001589	frameshift_variant	0			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.305delG	4.37:g.94750382delG	ENSP00000302216:p.Arg102fs		Q14CT9	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.E104fs	ENST00000306011.3	37	c.305	CCDS3638.1	4																																																																																			0	NULL		0.692	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH1	protein_coding	OTTHUMT00000253585.1	25	30	0	0.00	0	0	G	NM_005172	0	0		94750382	1	no_errors	ENST00000306011	ensembl	human	known	74_37	frame_shift_del	13	19	35	13.64	7	3	DEL	0.113	0	-	94750382	G	-	94750382	7	5	97	1	0	1	0	1	0	0	0	0	1112	1116	39	0	307	0	ATOH1	4	94750382	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	20819400	94750382	96403894	202	1401											
TACR3	6870	genome.wustl.edu	37	chr4	104510988	104510988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacctggtggtgtctgcatCgttggggtcaaacacgactg	7	10	15	9	2	2	0	1	0	1	0	3	2	2	1	1	5	2	2	1	5	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:104510988C>T	ENST00000304883.2	-	5	1389	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	417					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.D417N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GTGTCTGCATCGTTGGGGTCA	0.527																																							0											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											261	240	247					4																	104510988		2203	4300	6503	SO:0001583	missense	0			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1249G>A	4.37:g.104510988C>T	ENSP00000303325:p.Asp417Asn		Q0P510	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.D417N	ENST00000304883.2	37	c.1249	CCDS3664.1	4	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170378	0.21621	.	.	ENSG00000169836	ENST00000304883	T	0.63580	-0.05	5.54	3.83	0.44106	.	0.432525	0.25497	N	0.030266	T	0.60715	0.2290	M	0.77103	2.36	0.20403	N	0.9999	B	0.12630	0.006	B	0.06405	0.002	T	0.51156	-0.8741	10	0.27785	T	0.31	.	11.6752	0.51425	0.0:0.8568:0.0:0.1432	.	417	P29371	NK3R_HUMAN	N	417	ENSP00000303325:D417N	ENSP00000303325:D417N	D	-	1	0	TACR3	104730437	0.947000	0.32204	0.005000	0.12908	0.001000	0.01503	2.766000	0.47629	0.717000	0.32145	-0.216000	0.12614	GAT	0	NULL		0.527	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	protein_coding	OTTHUMT00000253804.1	50	166	0	0.00	0	0	C	NM_001059	0	0		104510988	-1	no_errors	ENST00000304883	ensembl	human	known	74_37	missense	30	177	41.18	29.76	21	75	SNP	0.322	T	T	104510988	C	T	104510988	3	4	97	1	0	0	0	0	1	0	0	0	15504	884	31	2	152	2	TACR3	4	104510988	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	9760606	104510988	86643288	203	1402											
UGT8	7368	genome.wustl.edu	37	chr4	115544174	115544174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctagcctcagccttgcaCgagagaggccaccatacagt	11	6	10	14	2	1	1	1	0	0	1	1	3	1	1	4	1	4	2	4	1	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:115544174C>T	ENST00000310836.6	+	2	660	c.138C>T	c.(136-138)caC>caT	p.H46H	UGT8_ENST00000394511.3_Silent_p.H46H	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	46					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)		CAGCCTTGCACGAGAGAGGCC	0.498																																							0											0													92	84	87					4																	115544174		2203	4300	6503	SO:0001819	synonymous_variant	0			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.138C>T	4.37:g.115544174C>T			B3KXU7|O00196	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H46	ENST00000310836.6	37	c.138	CCDS3705.1	4																																																																																			0	pfam_UDP_glucos_trans		0.498	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	protein_coding	OTTHUMT00000256426.2	58	108	0	0.00	0	0	C	NM_003360	0	0		115544174	1	no_errors	ENST00000310836	ensembl	human	known	74_37	silent	40	140	9.09	6.67	4	10	SNP	0.547	T	T	115544174	C	T	115544174	2	4	97	1	0	0	0	0	0	0	0	1	16962	535	19	1		1	UGT8	4	115544174	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	11033186	115544174	75610102	204	1403											
SPATA5	166378	genome.wustl.edu	37	chr4	123949431	123949431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacatccagagtctttcAttcgaatgggtattcagcca	13	12	7	9	1	3	1	2	0	1	1	5	2	4	1	2	1	2	1	2	1	4	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:123949431A>G	ENST00000274008.4	+	11	2029	c.1960A>G	c.(1960-1962)Att>Gtt	p.I654V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	654					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						AGAGTCTTTCATTCGAATGGG	0.443																																							0											0													139	136	137					4																	123949431		2203	4300	6503	SO:0001583	missense	0			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.1960A>G	4.37:g.123949431A>G	ENSP00000274008:p.Ile654Val		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.I654V	ENST00000274008.4	37	c.1960	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	A	9.984	1.229038	0.22542	.	.	ENSG00000145375	ENST00000274008	D	0.94687	-3.49	5.79	-1.05	0.10036	.	1.035350	0.07603	N	0.924037	D	0.84986	0.5594	N	0.10707	0.03	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.72769	-0.4193	10	0.31617	T	0.26	-31.6529	5.9501	0.19242	0.5156:0.2362:0.2482:0.0	.	654;654	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	V	654	ENSP00000274008:I654V	ENSP00000274008:I654V	I	+	1	0	SPATA5	124168881	0.070000	0.21116	0.011000	0.14972	0.938000	0.57974	1.240000	0.32731	-0.146000	0.11274	0.477000	0.44152	ATT	0	superfamily_P-loop_NTPase		0.443	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	protein_coding	OTTHUMT00000256714.2	97	215	0	0.00	0	0	A	NM_145207	0	0		123949431	1	no_errors	ENST00000274008	ensembl	human	known	74_37	missense	50	218	13.79	25.34	8	75	SNP	0.068	G	G	123949431	A	G	123949431	3	3	97	1	0	0	0	0	1	0	0	0	15010	217	8	3	2002	3	SPATA5	4	123949431	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	8405257	123949431	67204845	205	1404											
FAT4	79633	genome.wustl.edu	37	chr4	126371577	126371578	+	Frame_Shift_Ins	INS	-	-	T																															ttcaggaaatgaagaaggcaINStttttgcaatcaattcttct																								rs149392444		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:126371577_126371578insT	ENST00000394329.3	+	9	9419_9420	c.9406_9407insT	c.(9406-9408)attfs	p.I3136fs	FAT4_ENST00000335110.5_Frame_Shift_Ins_p.I1434fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3136	Cadherin 30. {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						TGAAGAAGGCATTTTTGCAATC	0.386																																							0											0																																										SO:0001589	frameshift_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9411dupT	4.37:g.126371582_126371582dupT	ENSP00000377862:p.Ile3136fs		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Ins	INS	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.A3138fs	ENST00000394329.3	37	c.9406_9407	CCDS3732.3	4																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.386	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	50	184	0	0.00	0	0	0	NM_024582	0	0		126371578	1	no_errors	ENST00000394329	ensembl	human	known	74_37	frame_shift_ins	32	160	31.91	34.69	15	85	INS	0.984:0.992	T	T	126371578	-	T	126371577	7	5	97	1	0	1	1	0	0	0	0	0	5692	217	8	0	9440	0	FAT4	4	126371577	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	2422146	126371577	64782699	206	1405											
UCP1	7350	genome.wustl.edu	37	chr4	141484596	141484596	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgactttcacgacctcTgtgggttgcccaatgaatac	9	12	9	11	1	3	2	1	2	2	0	3	3	3	2	2	1	2	1	2	1	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:141484596T>C	ENST00000262999.3	-	3	477	c.402A>G	c.(400-402)acA>acG	p.T134T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	134					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)					TCACGACCTCTGTGGGTTGCC	0.453																																							0											0													129	112	118					4																	141484596		2203	4300	6503	SO:0001819	synonymous_variant	0			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.402A>G	4.37:g.141484596T>C			Q13218|Q4KMZ3|Q68G66	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.T134	ENST00000262999.3	37	c.402	CCDS3753.1	4																																																																																			0	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.453	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP1	protein_coding	OTTHUMT00000257273.1	80	186	0	0.00	0	0	T		0	0		141484596	-1	no_errors	ENST00000262999	ensembl	human	known	74_37	silent	40	153	34.43	30.94	21	69	SNP	0.949	C	C	141484596	T	C	141484596	2	2	97	1	0	0	0	0	0	0	0	1	16927	1567	55	4		4	UCP1	4	141484596	Silent	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	15113019	141484596	49669680	207	1406											
USP38	84640	genome.wustl.edu	37	chr4	144106796	144106796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtggggcaccaggtgCtggaggcctacgcacgatac	8	5	17	11	2	0	0	0	0	0	0	0	2	0	1	2	7	3	4	2	7	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:144106796C>T	ENST00000307017.4	+	1	699	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	RP11-284M14.1_ENST00000507826.1_RNA|USP38_ENST00000510377.1_Silent_p.L65L|RP11-284M14.1_ENST00000507486.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	65					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)					GCACCAGGTGCTGGAGGCCTA	0.622																																							0											0													73	58	63					4																	144106796		2203	4300	6503	SO:0001819	synonymous_variant	0			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.193C>T	4.37:g.144106796C>T			B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.L65	ENST00000307017.4	37	c.193	CCDS3758.1	4																																																																																			0	NULL		0.622	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	protein_coding	OTTHUMT00000364869.1	9	101	0	0.00	0	0	C	NM_032557	0	0		144106796	1	no_errors	ENST00000307017	ensembl	human	known	74_37	silent	16	130	30.43	26.14	7	46	SNP	1	T	T	144106796	C	T	144106796	2	4	97	1	0	0	0	0	0	0	0	1	17066	796	28	3		3	USP38	4	144106796	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2622200	144106796	47047480	208	1407											
TKTL2	84076	genome.wustl.edu	37	chr4	164393092	164393092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattcactagttttcccacGttgaggcactcctgacactg	9	12	7	13	1	1	2	1	2	0	0	3	2	3	2	2	1	0	3	2	1	2	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:164393092G>A	ENST00000280605.3	-	1	1955	c.1795C>T	c.(1795-1797)Cgt>Tgt	p.R599C		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	599						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)				GTTTTCCCACGTTGAGGCACT	0.448																																							0											0													94	87	89					4																	164393092		2203	4300	6503	SO:0001583	missense	0			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.1795C>T	4.37:g.164393092G>A	ENSP00000280605:p.Arg599Cys		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.R599C	ENST00000280605.3	37	c.1795	CCDS3805.1	4	.	.	.	.	.	.	.	.	.	.	G	8.003	0.755756	0.15846	.	.	ENSG00000151005	ENST00000280605	D	0.91068	-2.78	5.16	2.67	0.31697	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.198833	0.51477	D	0.000086	T	0.80549	0.4644	N	0.11427	0.14	0.29120	N	0.880311	B	0.09022	0.002	B	0.13407	0.009	T	0.73544	-0.3949	10	0.72032	D	0.01	-2.6917	10.881	0.46937	0.0:0.0:0.3063:0.6937	.	599	Q9H0I9	TKTL2_HUMAN	C	599	ENSP00000280605:R599C	ENSP00000280605:R599C	R	-	1	0	TKTL2	164612542	0.995000	0.38212	0.007000	0.13788	0.217000	0.24651	2.646000	0.46630	0.504000	0.28082	-0.275000	0.10095	CGT	0	pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred		0.448	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	protein_coding	OTTHUMT00000365207.1	50	227	0	0.00	0	0	G	NM_032136	0	0		164393092	-1	no_errors	ENST00000280605	ensembl	human	known	74_37	missense	25	158	21.21	34.30	7	83	SNP	0.806	A	A	164393092	G	A	164393092	3	1	97	1	0	0	0	0	1	0	0	0	15933	1145	40	1	89	1	TKTL2	4	164393092	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	20286296	164393092	26761184	209	1408											
TKTL2	84076	genome.wustl.edu	37	chr4	164393772	164393772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagtgccacacttaccatgTtttgttcagcaataatacac	12	13	5	11	0	1	0	1	0	0	0	1	0	1	0	2	0	4	3	2	0	5	7			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:164393772T>C	ENST00000280605.3	-	1	1275	c.1115A>G	c.(1114-1116)aAc>aGc	p.N372S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	372						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)				ACTTACCATGTTTTGTTCAGC	0.443																																							0											0													101	100	100					4																	164393772		2203	4300	6503	SO:0001583	missense	0			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.1115A>G	4.37:g.164393772T>C	ENSP00000280605:p.Asn372Ser		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.N372S	ENST00000280605.3	37	c.1115	CCDS3805.1	4	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471767	0.63737	.	.	ENSG00000151005	ENST00000280605	T	0.44881	0.91	4.15	4.15	0.48705	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.71027	-0.4711	10	0.72032	D	0.01	-25.223	11.7822	0.52021	0.0:0.0:0.0:1.0	.	372	Q9H0I9	TKTL2_HUMAN	S	372	ENSP00000280605:N372S	ENSP00000280605:N372S	N	-	2	0	TKTL2	164613222	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.882000	0.69714	2.093000	0.63338	0.533000	0.62120	AAC	0	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd		0.443	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	protein_coding	OTTHUMT00000365207.1	59	181	0	0.00	0	0	T	NM_032136	0	0		164393772	-1	no_errors	ENST00000280605	ensembl	human	known	74_37	missense	33	164	23.26	29.91	10	70	SNP	1	C	C	164393772	T	C	164393772	3	2	97	1	0	0	0	0	1	0	0	0	15933	1725	60	3	769	3	TKTL2	4	164393772	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	680	164393772	26760504	210	1409											
SORBS2	8470	genome.wustl.edu	37	chr4	186515044	186515044	+	Frame_Shift_Del	DEL	C	C	-																															taagaagaatacttacggttCccccccaccttgaatatttt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:186515044delC	ENST00000284776.7	-	19	3639	c.3130delG	c.(3130-3132)gaafs	p.E1044fs	SORBS2_ENST00000355634.5_Frame_Shift_Del_p.E1144fs|SORBS2_ENST00000418609.1_Frame_Shift_Del_p.E948fs|SORBS2_ENST00000437304.2_Frame_Shift_Del_p.E768fs|SORBS2_ENST00000393528.3_Frame_Shift_Del_p.E610fs|SORBS2_ENST00000449407.2_Frame_Shift_Del_p.E588fs|SORBS2_ENST00000448662.2_Frame_Shift_Del_p.E605fs|SORBS2_ENST00000431808.1_Frame_Shift_Del_p.E1044fs|SORBS2_ENST00000319471.9_Frame_Shift_Del_p.E675fs|RP11-301L8.2_ENST00000411847.1_RNA	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	p.E1044fs*8(2)|p.E605fs*8(2)		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)		ACTTACGGTTCCCCCCCACCT	0.358																																					Esophageal Squamous(153;41 2433 9491 36028)		0											4	Insertion - Frameshift(4)	haematopoietic_and_lymphoid_tissue(4)											112	109	110					4																	186515044		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3130delG	4.37:g.186515044delC	ENSP00000284776:p.Glu1044fs		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_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.E1044fs	ENST00000284776.7	37	c.3130	CCDS3845.1	4																																																																																			0	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.358	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	protein_coding	OTTHUMT00000347944.3	102	258	0	0.39	0	1	C	NM_003603	0	0		186515044	-1	no_errors	ENST00000284776	ensembl	human	known	74_37	frame_shift_del	60	264	35.48	27.07	33	98	DEL	1	0	-	186515044	C	-	186515044	7	5	97	1	0	1	0	1	0	0	0	0	14928	864	30	0	184	0	SORBS2	4	186515044	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	22121272	186515044	4639232	211	1410											
TLR3	7098	genome.wustl.edu	37	chr4	187000162	187000162	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctttaaaaaaattagagTtgtcatcgaatcaaattaaa	19	13	4	5	1	3	1	2	0	1	1	4	2	3	1	0	0	0	1	0	0	9	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:187000162T>C	ENST00000296795.3	+	3	714	c.610T>C	c.(610-612)Ttg>Ctg	p.L204L	TLR3_ENST00000504367.1_5'Flank	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	204					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)		AAAATTAGAGTTGTCATCGAA	0.323																																							0											0													27	30	29					4																	187000162		2197	4293	6490	SO:0001819	synonymous_variant	0			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.610T>C	4.37:g.187000162T>C			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.L204	ENST00000296795.3	37	c.610	CCDS3846.1	4																																																																																			0	smart_Leu-rich_rpt_typical-subtyp		0.323	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	protein_coding	OTTHUMT00000360313.4	131	279	0	0.00	0	0	T		0	0		187000162	1	no_errors	ENST00000296795	ensembl	human	known	74_37	silent	74	274	30.19	25.14	32	92	SNP	0.887	C	C	187000162	T	C	187000162	2	2	97	1	0	0	0	0	0	0	0	1	15949	1722	60	3		3	TLR3	4	187000162	Silent	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	485118	187000162	4154114	212	1411											
TLR3	7098	genome.wustl.edu	37	chr4	187005965	187005965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggccagttcagaaagaaCggataggtgcctttcgtcat	11	10	11	9	2	2	2	2	0	0	2	3	3	2	3	2	3	2	1	2	3	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:187005965C>T	ENST00000296795.3	+	5	2757	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	TLR3_ENST00000504367.1_Missense_Mutation_p.R608W	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	885	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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)		TCAGAAAGAACGGATAGGTGC	0.368																																							0											0													83	87	86					4																	187005965		2203	4300	6503	SO:0001583	missense	0			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.2653C>T	4.37:g.187005965C>T	ENSP00000296795:p.Arg885Trp		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.R885W	ENST00000296795.3	37	c.2653	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265662	0.59431	.	.	ENSG00000164342	ENST00000296795;ENST00000504367	T;T	0.08634	3.07;3.07	5.84	4.98	0.66077	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.047036	0.85682	D	0.000000	T	0.33673	0.0871	M	0.86573	2.825	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.26916	-1.0089	10	0.72032	D	0.01	.	13.869	0.63605	0.393:0.607:0.0:0.0	.	885	O15455	TLR3_HUMAN	W	885;608	ENSP00000296795:R885W;ENSP00000423684:R608W	ENSP00000296795:R885W	R	+	1	2	TLR3	187242959	1.000000	0.71417	0.992000	0.48379	0.627000	0.37826	2.119000	0.41958	1.419000	0.47118	0.650000	0.86243	CGG	0	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom		0.368	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	protein_coding	OTTHUMT00000360313.4	158	205	0	0.00	0	0	C		0	0		187005965	1	no_errors	ENST00000296795	ensembl	human	known	74_37	missense	97	195	30.71	33.90	43	100	SNP	0.999	T	T	187005965	C	T	187005965	3	4	97	1	0	0	0	0	1	0	0	0	15949	527	19	1	2667	1	TLR3	4	187005965	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	5803	187005965	4148311	213	1412											
PLEKHG4B	153478	genome.wustl.edu	37	chr5	163580	163580	+	Frame_Shift_Del	DEL	C	C	-																															ctgtggcagcatgccaggagCcccccggtcactcagagccg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:163580delC	ENST00000283426.6	+	11	2375	c.2325delC	c.(2323-2325)agcfs	p.S775fs		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	775							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)		ATGCCAGGAGCCCCCCGGTCA	0.652																																							0											0													25	28	27					5																	163580		2200	4300	6500	SO:0001589	frameshift_variant	0			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.2325delC	5.37:g.163580delC	ENSP00000283426:p.Ser775fs			Frame_Shift_Del	DEL	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P777fs	ENST00000283426.6	37	c.2325	CCDS34124.1	5																																																																																			0	NULL		0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	protein_coding	OTTHUMT00000365359.1	45	45	0	0.00	0	0	C	NM_052909	0	0		163580	1	no_errors	ENST00000283426	ensembl	human	known	74_37	frame_shift_del	39	41	22	26.79	11	15	DEL	0.999	0	-	163580	C	-	163580	7	5	97	1	0	1	0	1	0	0	0	0	12072	738	26	0	2367	0	PLEKHG4B	5	163580	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09		163580	180751680	214	1413											
TPPP	11076	genome.wustl.edu	37	chr5	665302	665302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgtccaccagatccacgCggccagccttgcccttgccc	6	7	8	20	3	0	1	0	0	0	1	3	1	2	1	7	1	3	0	7	1	0	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:665302C>T	ENST00000360578.5	-	4	696	c.575G>A	c.(574-576)cGc>cAc	p.R192H	AC026740.1_ENST00000594226.1_5'Flank|CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	192					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)		CAGATCCACGCGGCCAGCCTT	0.647																																							0											0													80	70	74					5																	665302		2203	4300	6503	SO:0001583	missense	0			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.575G>A	5.37:g.665302C>T	ENSP00000353785:p.Arg192His			Missense_Mutation	SNP	pfam_P25-alpha	p.R192H	ENST00000360578.5	37	c.575	CCDS3856.1	5	.	.	.	.	.	.	.	.	.	.	c	27.0	4.794389	0.90453	.	.	ENSG00000171368	ENST00000360578	T	0.53206	0.63	5.12	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76258	-0.3025	10	0.87932	D	0	-24.5041	13.5105	0.61508	0.0:0.9233:0.0:0.0767	.	192	O94811	TPPP_HUMAN	H	192	ENSP00000353785:R192H	ENSP00000353785:R192H	R	-	2	0	TPPP	718302	1.000000	0.71417	0.955000	0.39395	0.911000	0.54048	5.428000	0.66489	1.160000	0.42584	0.561000	0.74099	CGC	0	pfam_P25-alpha		0.647	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPPP	protein_coding	OTTHUMT00000253645.3	44	68	0	0.00	0	0	C	NM_007030	0	0		665302	-1	no_errors	ENST00000360578	ensembl	human	known	74_37	missense	16	73	23.81	26.26	5	26	SNP	0.998	T	T	665302	C	T	665302	3	4	97	1	0	0	0	0	1	0	0	0	16410	768	27	1	88	1	TPPP	5	665302	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	501722	665302	180249958	215	1414											
LPCAT1	79888	genome.wustl.edu	37	chr5	1477535	1477535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactcggccatgactcgccGcacgttgctggcatacagcg	7	9	11	14	5	0	1	0	1	0	0	2	1	0	1	2	2	4	4	2	2	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:1477535G>A	ENST00000283415.3	-	9	1015	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	295					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)		ATGACTCGCCGCACGTTGCTG	0.547																																							0											0													100	88	92					5																	1477535		2203	4300	6503	SO:0001583	missense	0			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.883C>T	5.37:g.1477535G>A	ENSP00000283415:p.Arg295Trp		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R295W	ENST00000283415.3	37	c.883	CCDS3864.1	5	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771446	0.69992	.	.	ENSG00000153395	ENST00000283415	D	0.93906	-3.31	4.93	-2.1	0.07210	.	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.93420	3.415	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.96903	0.9661	10	0.87932	D	0	-30.545	15.7009	0.77541	0.0:0.0:0.1827:0.8173	.	295	Q8NF37	PCAT1_HUMAN	W	295	ENSP00000283415:R295W	ENSP00000283415:R295W	R	-	1	2	LPCAT1	1530535	0.995000	0.38212	0.985000	0.45067	0.973000	0.67179	0.431000	0.21444	-0.266000	0.09339	0.561000	0.74099	CGG	0	NULL		0.547	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	protein_coding	OTTHUMT00000304032.1	47	135	0	0.00	0	0	G	NM_024830	0	0		1477535	-1	no_errors	ENST00000283415	ensembl	human	known	74_37	missense	20	87	16.67	27.50	4	33	SNP	0.998	A	A	1477535	G	A	1477535	3	1	97	1	0	0	0	0	1	0	0	0	8910	1086	38	1	745	1	LPCAT1	5	1477535	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	812233	1477535	179437725	216	1415											
CCT5	22948	genome.wustl.edu	37	chr5	10260992	10260992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagaacaacttgcctgCggttcgctgggtaggaggac	8	10	13	10	2	2	1	1	0	1	1	3	3	2	3	1	4	4	3	1	4	3	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:10260992C>T	ENST00000280326.4	+	7	1382	c.962C>T	c.(961-963)gCg>gTg	p.A321V	CCT5_ENST00000503026.1_Missense_Mutation_p.A300V|CCT5_ENST00000506600.1_Missense_Mutation_p.A228V|CCT5_ENST00000515390.1_Missense_Mutation_p.A266V|CCT5_ENST00000515676.1_Missense_Mutation_p.A283V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	321					'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						AACTTGCCTGCGGTTCGCTGG	0.443																																							0											0													254	264	261					5																	10260992		2203	4300	6503	SO:0001583	missense	0			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.962C>T	5.37:g.10260992C>T	ENSP00000280326:p.Ala321Val		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.A321V	ENST00000280326.4	37	c.962	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.902972	0.97087	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.99;0.999;1.0;1.0;1.0	D;P;D;D;D;D	0.97110	0.916;0.826;0.968;1.0;1.0;1.0	D	0.84763	0.0763	10	0.72032	D	0.01	-24.9023	19.0925	0.93233	0.0:1.0:0.0:0.0	.	228;266;170;319;321;321	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	V	321;300;266;294;283;228	ENSP00000280326:A321V;ENSP00000423318:A300V;ENSP00000426923:A266V;ENSP00000427297:A283V;ENSP00000423052:A228V	ENSP00000280326:A321V	A	+	2	0	CCT5	10313992	1.000000	0.71417	0.930000	0.37139	0.984000	0.73092	7.319000	0.79040	2.746000	0.94184	0.586000	0.80456	GCG	0	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_epsi		0.443	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	protein_coding	OTTHUMT00000253688.2	76	180	0	0.00	0	0	C		0	0		10260992	1	no_errors	ENST00000280326	ensembl	human	known	74_37	missense	42	126	26.32	32.98	15	62	SNP	1	T	T	10260992	C	T	10260992	3	4	97	1	0	0	0	0	1	0	0	0	2956	768	27	1	988	1	CCT5	5	10260992	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	8783457	10260992	170654268	217	1416											
MYO10	4651	genome.wustl.edu	37	chr5	16668465	16668465	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgccccaaaagagaggAtgtgttcatactggaagact	12	8	14	7	0	1	2	1	0	0	2	1	5	1	4	2	4	2	1	2	4	4	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:16668465A>T	ENST00000513610.1	-	40	6450	c.5996T>A	c.(5995-5997)aTc>aAc	p.I1999N	MYO10_ENST00000274203.9_Missense_Mutation_p.I1356N|MYO10_ENST00000505695.1_Missense_Mutation_p.I1338N|MYO10_ENST00000427430.2_Missense_Mutation_p.I1356N|MYO10_ENST00000515803.1_Missense_Mutation_p.I1338N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1999	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						AAAAGAGAGGATGTGTTCATA	0.542																																							0											0													126	130	128					5																	16668465		2054	4203	6257	SO:0001583	missense	0			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.5996T>A	5.37:g.16668465A>T	ENSP00000421280:p.Ile1999Asn		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.I1999N	ENST00000513610.1	37	c.5996	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	A	27.7	4.852762	0.91355	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.93488	-3.02;-3.23;-3.15;-3.23;-3.15	5.14	5.14	0.70334	FERM domain (1);	.	.	.	.	D	0.96815	0.8960	M	0.84511	2.7	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.997	D	0.97546	1.0089	9	0.87932	D	0	.	14.9757	0.71269	1.0:0.0:0.0:0.0	.	878;1639;1999	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	N	1999;1338;1356;1338;1356	ENSP00000421280:I1999N;ENSP00000425051:I1338N;ENSP00000274203:I1356N;ENSP00000421170:I1338N;ENSP00000391106:I1356N	ENSP00000274203:I1356N	I	-	2	0	MYO10	16721465	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.284000	0.95882	1.937000	0.56155	0.482000	0.46254	ATC	0	pfscan_FERM_domain		0.542	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	protein_coding	OTTHUMT00000366167.1	48	154	0	0.00	0	0	A	NM_012334	0	0		16668465	-1	no_errors	ENST00000513610	ensembl	human	known	74_37	missense	21	106	25	31.61	7	49	SNP	1	T	T	16668465	A	T	16668465	3	4	97	1	0	0	0	0	1	0	0	0	10062	333	12	5	188	5	MYO10	5	16668465	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	6407473	16668465	164246795	218	1417											
LMBRD2	92255	genome.wustl.edu	37	chr5	36122474	36122474	+	Frame_Shift_Del	DEL	T	T	-																															gatgagtagcactagtttcaTtttttgctacatcttctaga																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:36122474delT	ENST00000296603.4	-	9	1490	c.1028delA	c.(1027-1029)aatfs	p.N343fs		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	343						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)			ACTAGTTTCATTTTTTGCTAC	0.343																																							0											0													95	95	95					5																	36122474		2203	4300	6503	SO:0001589	frameshift_variant	0				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.1028delA	5.37:g.36122474delT	ENSP00000296603:p.Asn343fs		B3KRB6|Q9NTC7	Frame_Shift_Del	DEL	pfam_LMBR1-like_membr_prot	p.N343fs	ENST00000296603.4	37	c.1028	CCDS34145.1	5																																																																																			0	pfam_LMBR1-like_membr_prot		0.343	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD2	protein_coding	OTTHUMT00000367552.1	152	222	0	0.00	0	0	T	NM_001007527	0	0		36122474	-1	no_errors	ENST00000296603	ensembl	human	known	74_37	frame_shift_del	73	226	24.74	27.10	24	84	DEL	1	0	-	36122474	T	-	36122474	7	5	97	1	0	1	0	1	0	0	0	0	8843	1493	52	0	1099	0	LMBRD2	5	36122474	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	19454009	36122474	144792786	219	1418											
NIPBL	25836	genome.wustl.edu	37	chr5	36984789	36984789	+	Frame_Shift_Del	DEL	A	A	-																															aaatttcagataagcctttgAaaaaaagaaaacaagattct																								rs34314728		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:36984789delA	ENST00000282516.8	+	10	2006	c.1507delA	c.(1507-1509)aaafs	p.K504fs	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K504fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	504					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAAGCCTTTGAAAAAAAGAAA	0.368																																							0											0													61	68	66					5																	36984789		2203	4298	6501	SO:0001589	frameshift_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1507delA	5.37:g.36984789delA	ENSP00000282516:p.Lys504fs		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.R505fs	ENST00000282516.8	37	c.1507	CCDS3920.1	5																																																																																			0	NULL		0.368	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	protein_coding	OTTHUMT00000207582.1	77	126	0	0.00	0	0	A	NM_015384	rs34314728	GA->G		36984789	1	no_errors	ENST00000282516	ensembl	human	known	74_37	frame_shift_del	59	117	25.32	23.53	20	36	DEL	1	0	-	36984789	A	-	36984789	7	5	97	1	0	1	0	1	0	0	0	0	10428	247	9	0	1541	0	NIPBL	5	36984789	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	862315	36984789	143930471	220	1419											
NIPBL	25836	genome.wustl.edu	37	chr5	36985729	36985729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctgagtcactaagacGtgaccatgataataaacaaa	16	11	7	7	1	2	4	1	3	1	1	2	4	2	4	1	0	1	1	1	0	5	4	rs80358359	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:36985729G>A	ENST00000282516.8	+	10	2946	c.2447G>A	c.(2446-2448)cGt>cAt	p.R816H	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.R816H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	816					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCACTAAGACGTGACCATGAT	0.438													G|||	2	0.000399361	0	0	5008	,	,		19796	0		0.001	False		,,,				2504	0.001						0.9996,0.0003994											0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	65	65	65	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2447,2447	6	1	5	dbSNP_132	65	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	NIPBL	NM_015384.4,NM_133433.3	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	816/2698,816/2805	36985729	2,13004	2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2447G>A	5.37:g.36985729G>A	ENSP00000282516:p.Arg816His		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R816H	ENST00000282516.8	37	c.2447	CCDS3920.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.10	3.549563	0.65311	0.0	2.33E-4	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93604	-3.25;-3.25	5.99	5.99	0.97316	.	0.145970	0.48767	D	0.000178	D	0.92522	0.7625	N	0.24115	0.695	0.45097	D	0.998114	D;D	0.63880	0.988;0.993	B;P	0.52823	0.379;0.71	D	0.92520	0.6024	10	0.51188	T	0.08	-8.948	20.4777	0.99188	0.0:0.0:1.0:0.0	.	816;816	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	816	ENSP00000282516:R816H;ENSP00000406266:R816H	ENSP00000282516:R816H	R	+	2	0	NIPBL	37021486	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.706000	0.61845	2.840000	0.97914	0.655000	0.94253	CGT	0	NULL		0.438	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	protein_coding	OTTHUMT00000207582.1	29	193	0	0.00	0	0	G	NM_015384	rs80358359	G->A		36985729	1	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	22	149	37.84	27.67	14	57	SNP	1	A	A	36985729	G	A	36985729	3	1	97	1	0	0	0	0	1	0	0	0	10428	1145	40	1	2481	1	NIPBL	5	36985729	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	940	36985729	143929531	221	1420											
EGFLAM	133584	genome.wustl.edu	37	chr5	38352386	38352386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcttggaaacctggagcGagtgaaggaagcgcccctat	10	8	13	10	2	1	1	0	1	1	0	1	5	1	4	3	3	3	0	3	3	4	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:38352386G>A	ENST00000354891.3	+	5	844	c.498G>A	c.(496-498)gcG>gcA	p.A166A	EGFLAM_ENST00000322350.5_Silent_p.A166A	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	166	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.A166A(2)		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)					AACCTGGAGCGAGTGAAGGAA	0.532																																					Colon(62;485 1295 3347 17454)		0											2	Substitution - coding silent(2)	lung(2)											133	130	131					5																	38352386		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.498G>A	5.37:g.38352386G>A			A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	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.A166	ENST00000354891.3	37	c.498	CCDS56363.1	5																																																																																			0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.532	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	protein_coding	OTTHUMT00000367323.1	45	141	0	0.00	0	0	G	NM_152403	0	0		38352386	1	no_errors	ENST00000354891	ensembl	human	known	74_37	silent	28	177	15.15	5.35	5	10	SNP	0.994	A	A	38352386	G	A	38352386	2	1	97	1	0	0	0	0	0	0	0	1	4966	1045	37	2		2	EGFLAM	5	38352386	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1366657	38352386	142562874	222	1421											
HTR1A	3350	genome.wustl.edu	37	chr5	63257266	63257266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagcacctgatacagcGcggccatgggcagcaccaac	10	6	12	13	2	0	2	0	2	0	0	0	2	0	2	3	2	5	4	3	2	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:63257266G>A	ENST00000323865.3	-	1	514	c.281C>T	c.(280-282)gCg>gTg	p.A94V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	94					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)	CTGATACAGCGCGGCCATGGG	0.587																																							0											0													52	53	52					5																	63257266		2203	4300	6503	SO:0001583	missense	0			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.281C>T	5.37:g.63257266G>A	ENSP00000316244:p.Ala94Val		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.A94V	ENST00000323865.3	37	c.281	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198806	0.79015	.	.	ENSG00000178394	ENST00000323865	T	0.36878	1.23	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.42378	-0.9455	10	0.02654	T	1	.	16.6418	0.85128	0.0:0.0:1.0:0.0	.	94	P08908	5HT1A_HUMAN	V	94	ENSP00000316244:A94V	ENSP00000316244:A94V	A	-	2	0	HTR1A	63293022	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.881000	0.87252	2.170000	0.68504	0.561000	0.74099	GCG	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt		0.587	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	protein_coding	OTTHUMT00000368397.1	36	65	0	0.00	0	0	G	NM_000524	0	0		63257266	-1	no_errors	ENST00000323865	ensembl	human	known	74_37	missense	10	63	44.44	30.77	8	28	SNP	1	A	A	63257266	G	A	63257266	3	1	97	1	0	0	0	0	1	0	0	0	7436	1087	38	1	990	1	HTR1A	5	63257266	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	24904880	63257266	117657994	223	1422											
BDP1	55814	genome.wustl.edu	37	chr5	70805889	70805889	+	Frame_Shift_Del	DEL	A	A	-																															ttggaagaaactggaagaagAaaaatatccccaagggaaaa																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:70805889delA	ENST00000358731.4	+	17	3233	c.2970delA	c.(2968-2970)agafs	p.R990fs	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	990	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				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)		CTGGAAGAAGAAAAATATCCC	0.453																																							0											0													68	69	69					5																	70805889		1820	4077	5897	SO:0001589	frameshift_variant	0			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.2970delA	5.37:g.70805889delA	ENSP00000351575:p.Arg990fs		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_SANT/Myb	p.I992fs	ENST00000358731.4	37	c.2970	CCDS43328.1	5																																																																																			0	NULL		0.453	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	protein_coding	OTTHUMT00000374681.2	63	97	0	0.00	0	0	A	NM_018429	0	0		70805889	1	no_errors	ENST00000358731	ensembl	human	known	74_37	frame_shift_del	27	80	37.21	26.61	16	29	DEL	0	0	-	70805889	A	-	70805889	7	5	97	1	0	1	0	1	0	0	0	0	1395	243	9	0	3036	0	BDP1	5	70805889	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	7548623	70805889	110109371	224	1423											
WDR41	55255	genome.wustl.edu	37	chr5	76745632	76745632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctggtgatcaaggaggCgcttaacttcaagaatatcc	12	11	9	9	1	2	2	2	1	0	1	4	3	4	3	2	3	1	1	2	3	6	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:76745632C>T	ENST00000296679.4	-	8	1025	c.650G>A	c.(649-651)cGc>cAc	p.R217H	WDR41_ENST00000414719.2_Intron|WDR41_ENST00000507029.1_Missense_Mutation_p.R162H	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	217						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)		ATCAAGGAGGCGCTTAACTTC	0.338																																							0											0													121	119	119					5																	76745632		2203	4300	6503	SO:0001583	missense	0			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.650G>A	5.37:g.76745632C>T	ENSP00000296679:p.Arg217His		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.R217H	ENST00000296679.4	37	c.650	CCDS4038.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.065243|3.065243	0.55432|0.55432	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000511630|ENST00000296679;ENST00000507029	.|T;T	.|0.66460	.|-0.21;-0.21	6.01|6.01	4.23|4.23	0.50019|0.50019	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.234157	.|0.53938	.|N	.|0.000060	T|T	0.66046|0.66046	0.2750|0.2750	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	.|D;B	.|0.69078	.|0.997;0.217	.|P;B	.|0.49332	.|0.607;0.044	T|T	0.64952|0.64952	-0.6286|-0.6286	5|10	.|0.46703	.|T	.|0.11	-5.7018|-5.7018	16.0003|16.0003	0.80288|0.80288	0.0:0.8783:0.0:0.1217|0.0:0.8783:0.0:0.1217	.|.	.|162;217	.|B4DT55;Q9HAD4	.|.;WDR41_HUMAN	T|H	43|217;162	.|ENSP00000296679:R217H;ENSP00000424287:R162H	.|ENSP00000296679:R217H	A|R	-|-	1|2	0|0	WDR41|WDR41	76781388|76781388	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	2.904000|2.904000	0.48719|0.48719	0.453000|0.453000	0.26858|0.26858	-0.813000|-0.813000	0.03139|0.03139	GCC|CGC	0	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.338	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR41	protein_coding	OTTHUMT00000220014.2	100	234	0	0.00	0	0	C	NM_018268	0	0		76745632	-1	no_errors	ENST00000296679	ensembl	human	known	74_37	missense	53	215	25.35	23.76	18	67	SNP	1	T	T	76745632	C	T	76745632	3	4	97	1	0	0	0	0	1	0	0	0	17291	768	27	1	753	1	WDR41	5	76745632	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	5939743	76745632	104169628	225	1424											
MSH3	4437	genome.wustl.edu	37	chr5	80150076	80150076	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaactaggaagagggAcgagcactcatgatggaatt	14	8	14	5	1	1	3	1	2	0	1	1	8	1	7	0	4	2	1	0	4	4	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:80150076A>G	ENST00000265081.6	+	21	3021	c.2941A>G	c.(2941-2943)Acg>Gcg	p.T981A		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	981					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)		AGGAAGAGGGACGAGCACTCA	0.378								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)		0											0													142	130	134					5																	80150076		2203	4300	6503	SO:0001583	missense	0			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.2941A>G	5.37:g.80150076A>G	ENSP00000265081:p.Thr981Ala		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	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.T981A	ENST00000265081.6	37	c.2941	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506638	0.64410	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.89270	-2.49	5.25	5.25	0.73442	DNA mismatch repair protein MutS, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96664	0.8911	H	0.98155	4.16	0.48087	D	0.999584	D	0.89917	1.0	D	0.91635	0.999	D	0.98208	1.0471	9	.	.	.	-17.9904	15.1477	0.72671	1.0:0.0:0.0:0.0	.	981	P20585	MSH3_HUMAN	A	981;972	ENSP00000265081:T981A	.	T	+	1	0	MSH3	80185832	1.000000	0.71417	0.978000	0.43139	0.272000	0.26649	9.339000	0.96797	1.986000	0.57962	0.533000	0.62120	ACG	0	pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C		0.378	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	41	203	0	0.00	0	0	A	NM_002439	0	0		80150076	1	no_errors	ENST00000265081	ensembl	human	known	74_37	missense	28	161	37.78	21.84	17	45	SNP	1	G	G	80150076	A	G	80150076	3	3	97	1	0	0	0	0	1	0	0	0	9871	275	10	3	3023	3	MSH3	5	80150076	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	3404444	80150076	100765184	226	1425											
GPR98	84059	genome.wustl.edu	37	chr5	89949478	89949478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattctcagcttgggtaatgCccaatgccaatacgaatgga	12	10	9	10	1	1	0	1	0	1	0	2	2	1	1	2	2	4	2	2	2	5	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:89949478C>T	ENST00000405460.2	+	20	4183	c.4087C>T	c.(4087-4089)Ccc>Tcc	p.P1363S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1363					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)		TTGGGTAATGCCCAATGCCAA	0.418																																							0											0													106	97	100					5																	89949478		1920	4133	6053	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4087C>T	5.37:g.89949478C>T	ENSP00000384582:p.Pro1363Ser		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.P1363S	ENST00000405460.2	37	c.4087	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.885362|4.885362	0.91814|0.91814	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.76709	.|-1.04	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88437|0.88437	0.6436|0.6436	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.89024|0.89024	0.3437|0.3437	5|10	.|0.72032	.|D	.|0.01	.|.	19.4938|19.4938	0.95064|0.95064	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1363	.|Q8WXG9	.|GPR98_HUMAN	V|S	951|1363	.|ENSP00000384582:P1363S	.|ENSP00000296619:P1363S	A|P	+|+	2|1	0|0	GPR98|GPR98	89985234|89985234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.508000|7.508000	0.81686|0.81686	2.691000|2.691000	0.91804|0.91804	0.650000|0.650000	0.86243|0.86243	GCC|CCC	0	superfamily_ConA-like_lec_gl_sf		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	29	287	0	0.35	0	1	C	NM_032119	0	0		89949478	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	25	336	29.73	28.36	11	133	SNP	1	T	T	89949478	C	T	89949478	3	4	97	1	0	0	0	0	1	0	0	0	6721	739	26	3	4165	3	GPR98	5	89949478	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	9799402	89949478	90965782	227	1426											
GPR98	84059	genome.wustl.edu	37	chr5	90050860	90050860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggactacttggggatattgCcattcacttgagagctcaac	11	11	10	9	0	2	1	2	1	0	1	2	4	2	3	1	3	4	1	1	3	3	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:90050860C>T	ENST00000405460.2	+	55	11534	c.11438C>T	c.(11437-11439)gCc>gTc	p.A3813V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3813	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)		GGGGATATTGCCATTCACTTG	0.358																																							0											0													144	142	143					5																	90050860		1888	4098	5986	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11438C>T	5.37:g.90050860C>T	ENSP00000384582:p.Ala3813Val		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.A3813V	ENST00000405460.2	37	c.11438	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.22|10.22	1.290824|1.290824	0.23564|0.23564	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.34472|.	1.36|.	5.73|5.73	3.94|3.94	0.45596|0.45596	.|.	0.621206|.	0.18547|.	N|.	0.138004|.	T|T	0.42653|0.42653	0.1212|0.1212	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	B;B|.	0.12630|.	0.006;0.005|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.23013|0.23013	-1.0200|-1.0200	10|5	0.42905|.	T|.	0.14|.	.|.	6.7581|6.7581	0.23526|0.23526	0.0:0.6985:0.1469:0.1546|0.0:0.6985:0.1469:0.1546	.|.	3813;3813|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	V|S	3813|1379	ENSP00000384582:A3813V|.	ENSP00000296619:A3813V|.	A|P	+|+	2|1	0|0	GPR98|GPR98	90086616|90086616	0.163000|0.163000	0.22920|0.22920	1.000000|1.000000	0.80357|0.80357	0.195000|0.195000	0.23768|0.23768	0.574000|0.574000	0.23714|0.23714	1.431000|1.431000	0.47355|0.47355	0.655000|0.655000	0.94253|0.94253	GCC|CCA	0	NULL		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	55	263	0	0.38	0	1	C	NM_032119	0	0		90050860	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	26	226	40.91	32.64	18	110	SNP	0.974	T	T	90050860	C	T	90050860	3	4	97	1	0	0	0	0	1	0	0	0	6721	739	26	3	11656	3	GPR98	5	90050860	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	101382	90050860	90864400	228	1427											
C5orf36	285600	genome.wustl.edu	37	chr5	93820572	93820572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggattttatgagctgcgatAagaattcgactttgtctaaa	13	14	9	5	2	1	2	0	1	1	1	2	5	1	3	0	1	2	1	0	1	5	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:93820572A>G	ENST00000513200.3	-	5	1106	c.1034T>C	c.(1033-1035)tTa>tCa	p.L345S	KIAA0825_ENST00000312498.7_Missense_Mutation_p.L345S|KIAA0825_ENST00000427991.2_Missense_Mutation_p.L345S	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	345										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						GAGCTGCGATAAGAATTCGAC	0.348																																							0											0													89	76	80					5																	93820572		692	1588	2280	SO:0001583	missense	0			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.1034T>C	5.37:g.93820572A>G	ENSP00000424618:p.Leu345Ser		O94914|Q6ZNN2	Missense_Mutation	SNP	NULL	p.L345S	ENST00000513200.3	37	c.1034		5	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146672	0.37923	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.66638	-0.2;-0.2;-0.22	5.07	3.88	0.44766	.	.	.	.	.	T	0.77287	0.4108	M	0.62723	1.935	0.28916	N	0.892391	D	0.76494	0.999	D	0.70016	0.967	T	0.70353	-0.4895	9	0.87932	D	0	.	10.1492	0.42782	0.851:0.0:0.0:0.149	.	345	Q8IV33	K0825_HUMAN	S	345	ENSP00000424618:L345S;ENSP00000400288:L345S;ENSP00000312205:L345S	ENSP00000312205:L345S	L	-	2	0	KIAA0825	93846328	1.000000	0.71417	0.488000	0.27440	0.175000	0.22909	5.564000	0.67359	0.844000	0.35094	0.383000	0.25322	TTA	0	NULL		0.348	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	protein_coding	OTTHUMT00000254102.5	112	273	0.88	0.00	1	0	A	NM_173665	0	0		93820572	-1	no_errors	ENST00000427991	ensembl	human	known	74_37	missense	78	236	27.78	24.36	30	76	SNP	0.983	G	G	93820572	A	G	93820572	3	3	97	1	0	0	0	0	1	0	0	0	2295	372	13	3	2857	3	C5orf36	5	93820572	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	3769712	93820572	87094688	229	1428											
ANKRD32	84250	genome.wustl.edu	37	chr5	93990395	93990395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcaaaagccatggctattAagacagatgtggatgttgtt	14	12	10	5	0	1	2	1	0	0	2	1	3	1	3	1	2	1	3	1	2	5	4	rs190144448	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:93990395A>G	ENST00000265140.5	+	9	1512	c.1093A>G	c.(1093-1095)Aag>Gag	p.K365E		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	365						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)		CATGGCTATTAAGACAGATGT	0.299																																							0											0													99	90	93					5																	93990395		692	1586	2278	SO:0001583	missense	0			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.1093A>G	5.37:g.93990395A>G	ENSP00000265140:p.Lys365Glu		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.K365E	ENST00000265140.5	37	c.1093	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	A	8.083	0.772892	0.16051	.	.	ENSG00000133302	ENST00000265140	T	0.49720	0.77	5.34	0.121	0.14695	.	0.608745	0.14672	N	0.305275	T	0.30696	0.0773	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14839	-1.0458	10	0.33940	T	0.23	.	4.277	0.10813	0.4971:0.2225:0.2804:0.0	.	365	Q9BQI6	ANR32_HUMAN	E	365	ENSP00000265140:K365E	ENSP00000265140:K365E	K	+	1	0	ANKRD32	94016151	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	0.152000	0.16302	0.059000	0.16252	-0.256000	0.11100	AAG	0	NULL		0.299	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	protein_coding	OTTHUMT00000241610.1	137	224	0	0.00	0	0	A	NM_032290	0	0		93990395	1	no_errors	ENST00000265140	ensembl	human	known	74_37	missense	85	176	25.44	26.97	29	65	SNP	0	G	G	93990395	A	G	93990395	3	3	97	1	0	0	0	0	1	0	0	0	660	363	13	3	1123	3	ANKRD32	5	93990395	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	169823	93990395	86924865	230	1429											
REEP5	7905	genome.wustl.edu	37	chr5	112257874	112257874	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggtcgaacctctccctcAtggccgcagacatggcgggg	7	6	13	15	4	2	1	1	0	1	1	4	2	2	1	4	5	1	1	4	5	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:112257874A>G	ENST00000379638.4	-	1	362	c.14T>C	c.(13-15)aTg>aCg	p.M5T	REEP5_ENST00000513339.1_Missense_Mutation_p.M5T|REEP5_ENST00000474542.2_5'Flank|REEP5_ENST00000545426.1_Missense_Mutation_p.M5T|REEP5_ENST00000504247.1_Missense_Mutation_p.M5T	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	5						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)		CCTCTCCCTCATGGCCGCAGA	0.652																																							0											0													50	45	47					5																	112257874		2202	4300	6502	SO:0001583	missense	0			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.14T>C	5.37:g.112257874A>G	ENSP00000368959:p.Met5Thr		B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.M5T	ENST00000379638.4	37	c.14	CCDS4109.2	5	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198270	0.38806	.	.	ENSG00000129625	ENST00000379638;ENST00000513339;ENST00000545426;ENST00000504247	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.17	1.7	0.24286	.	0.288739	0.34507	N	0.003917	T	0.30885	0.0779	L	0.28274	0.84	0.32607	N	0.525084	B;B	0.14438	0.01;0.0	B;B	0.15052	0.012;0.002	T	0.20940	-1.0260	10	0.42905	T	0.14	-30.5748	8.0683	0.30674	0.8253:0.0:0.1747:0.0	.	5;5	B7Z510;Q00765	.;REEP5_HUMAN	T	5	ENSP00000368959:M5T;ENSP00000425901:M5T;ENSP00000442940:M5T;ENSP00000421881:M5T	ENSP00000368959:M5T	M	-	2	0	REEP5	112285773	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	4.698000	0.61789	0.059000	0.16252	-0.371000	0.07208	ATG	0	NULL		0.652	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP5	protein_coding	OTTHUMT00000250739.2	49	111	0	0.00	0	0	A	NM_005669	0	0		112257874	-1	no_errors	ENST00000379638	ensembl	human	known	74_37	missense	46	65	22.03	35.64	13	36	SNP	1	G	G	112257874	A	G	112257874	3	3	97	1	0	0	0	0	1	0	0	0	13208	217	8	3	575	3	REEP5	5	112257874	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	18267479	112257874	68657386	231	1430											
DMXL1	1657	genome.wustl.edu	37	chr5	118506653	118506653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatagatggtggaaaattgcGttaccaactataccactggc	14	10	9	8	1	0	1	0	0	0	1	0	2	0	2	2	3	4	1	2	3	8	5	rs373434175		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:118506653G>A	ENST00000311085.8	+	24	6247	c.6167G>A	c.(6166-6168)cGt>cAt	p.R2056H	DMXL1_ENST00000539542.1_Missense_Mutation_p.R2056H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2056										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)		GGAAAATTGCGTTACCAACTA	0.378																																							0											0								G	HIS/ARG	0,4404		0,0,2202	81	82	81		6167	5.5	1	5		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	DMXL1	NM_005509.4	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2056/3028	118506653	1,13003	2202	4300	6502	SO:0001583	missense	0			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.6167G>A	5.37:g.118506653G>A	ENSP00000309690:p.Arg2056His			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2056H	ENST00000311085.8	37	c.6167	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538942	0.85917	0.0	1.16E-4	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.79845	-1.31;-1.31	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.91449	0.7301	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.92519	0.6023	10	0.87932	D	0	-15.3131	19.3932	0.94594	0.0:0.0:1.0:0.0	.	2056;2056	F5H269;Q9Y485	.;DMXL1_HUMAN	H	2056	ENSP00000309690:R2056H;ENSP00000439479:R2056H	ENSP00000309690:R2056H	R	+	2	0	DMXL1	118534552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.577000	0.86979	0.557000	0.71058	CGT	0	NULL		0.378	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	protein_coding	OTTHUMT00000250862.1	101	250	0	0.00	0	0	G	NM_005509	rs373434175	G->A		118506653	1	no_errors	ENST00000539542	ensembl	human	known	74_37	missense	48	222	31.43	27.21	22	83	SNP	1	A	A	118506653	G	A	118506653	3	1	97	1	0	0	0	0	1	0	0	0	4594	1145	40	1	6261	1	DMXL1	5	118506653	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	6248779	118506653	62408607	232	1431											
TRPC7	57113	genome.wustl.edu	37	chr5	135692352	135692352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttgctgagctccagggCggtgaggacagggtcttcgc	5	9	16	11	3	1	2	0	2	1	0	4	3	2	3	1	4	2	3	1	4	0	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:135692352C>T	ENST00000513104.1	-	2	1006	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	TRPC7_ENST00000355180.3_Missense_Mutation_p.A242T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A242T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	242					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)			AGCTCCAGGGCGGTGAGGACA	0.572																																							0											0													45	49	48					5																	135692352		2114	4241	6355	SO:0001583	missense	0			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.724G>A	5.37:g.135692352C>T	ENSP00000426070:p.Ala242Thr		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.A242T	ENST00000513104.1	37	c.724	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.052196|5.052196	0.93793|0.93793	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.88277|.	-2.36;-2.36;-2.36|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Transient receptor potential II (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76343|0.76343	0.3974|0.3974	M|M	0.73319|0.73319	2.225|2.225	0.47245|0.47245	D|D	0.999363|0.999363	D;D;D;D|.	0.89917|.	0.999;1.0;0.998;0.999|.	D;D;D;D|.	0.80764|.	0.994;0.916;0.95;0.966|.	T|T	0.74708|0.74708	-0.3574|-0.3574	10|5	0.87932|.	D|.	0|.	-15.3855|-15.3855	19.3333|19.3333	0.94303|0.94303	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	242;242;242;242|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	T|H	242|241	ENSP00000347312:A242T;ENSP00000441628:A242T;ENSP00000426070:A242T|.	ENSP00000265193:A242T|.	A|R	-|-	1|2	0|0	TRPC7|TRPC7	135720251|135720251	1.000000|1.000000	0.71417|0.71417	0.865000|0.865000	0.33974|0.33974	0.988000|0.988000	0.76386|0.76386	7.651000|7.651000	0.83577|0.83577	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CGC	0	pfam_TRP_dom,tigrfam_TRP_channel		0.572	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	protein_coding	OTTHUMT00000366975.1	20	159	0	0.00	0	0	C	NM_020389	0	0		135692352	-1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	10	108	37.5	25.52	6	37	SNP	1	T	T	135692352	C	T	135692352	3	4	97	1	0	0	0	0	1	0	0	0	16581	768	27	1	1908	1	TRPC7	5	135692352	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	17185699	135692352	45222908	233	1432											
HARS2	23438	genome.wustl.edu	37	chr5	140075194	140075194	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccaaccatagtccaaggCcgttatagggagttctgcca	11	8	10	12	1	1	0	0	0	1	0	2	1	2	1	5	2	3	2	5	2	5	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140075194C>T	ENST00000230771.3	+	5	724	c.501C>T	c.(499-501)ggC>ggT	p.G167G	HARS2_ENST00000432671.2_Intron|HARS2_ENST00000435019.2_Silent_p.G127G|HARS2_ENST00000508522.1_Silent_p.G142G|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000437649.2_Intron	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	167					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)			TAGTCCAAGGCCGTTATAGGG	0.488																																							0											0													142	138	139					5																	140075194		2203	4300	6503	SO:0001819	synonymous_variant	0			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.501C>T	5.37:g.140075194C>T			B4DDY8	Silent	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.G167	ENST00000230771.3	37	c.501	CCDS4238.1	5																																																																																			0	pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase		0.488	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS2	protein_coding	OTTHUMT00000251670.2	105	237	0	0.00	0	0	C	NM_012208	0	0		140075194	1	no_errors	ENST00000230771	ensembl	human	known	74_37	silent	59	191	26.25	27.44	21	73	SNP	0.959	T	T	140075194	C	T	140075194	2	4	97	1	0	0	0	0	0	0	0	1	6960	726	26	3		3	HARS2	5	140075194	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	4382842	140075194	40840066	234	1433											
PCDHA7	56141	genome.wustl.edu	37	chr5	140215417	140215417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcggcgggggacgcggaCgcgcagaagaacgcgctggt	7	4	20	10	8	0	2	0	0	0	2	1	4	0	4	0	5	1	2	0	5	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140215417C>T	ENST00000525929.1	+	1	1449	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.D483D	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	483	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)|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)			GGGACGCGGACGCGCAGAAGA	0.677																																					NSCLC(160;258 2013 5070 22440 28951)		0											0													45	49	47					5																	140215417		2202	4300	6502	SO:0001819	synonymous_variant	0			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.1449C>T	5.37:g.140215417C>T			O75282	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D483	ENST00000525929.1	37	c.1449	CCDS54918.1	5																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	protein_coding	OTTHUMT00000372887.2	104	9	0	0.00	0	0	C	NM_018910	0	0		140215417	1	no_errors	ENST00000525929	ensembl	human	known	74_37	silent	69	5	21.35	0.00	19	0	SNP	0.123	T	T	140215417	C	T	140215417	2	4	97	1	0	0	0	0	0	0	0	1	11529	535	19	1		1	PCDHA7	5	140215417	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	140223	140215417	40699843	235	1434											
PCDHA12	56137	genome.wustl.edu	37	chr5	140256944	140256944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtggggctgtacactggCgagatcagcacgacacgcat	10	6	13	12	4	1	1	1	0	0	1	1	3	1	1	0	3	2	4	0	3	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140256944C>T	ENST00000398631.2	+	1	1887	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	629	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)			TGTACACTGGCGAGATCAGCA	0.677																																					Pancreas(113;759 1672 13322 24104 50104)		0											0													241	214	223					5																	140256944		2203	4299	6502	SO:0001819	synonymous_variant	0			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.1887C>T	5.37:g.140256944C>T			O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G629	ENST00000398631.2	37	c.1887	CCDS47285.1	5																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	protein_coding	OTTHUMT00000372882.2	110	48	0	0.00	0	0	C	NM_018903	0	0		140256944	1	no_errors	ENST00000398631	ensembl	human	known	74_37	silent	88	53	25.42	19.70	30	13	SNP	0.986	T	T	140256944	C	T	140256944	2	4	97	1	0	0	0	0	0	0	0	1	11522	755	27	1		1	PCDHA12	5	140256944	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	41527	140256944	40658316	236	1435											
PCDHB6	56130	genome.wustl.edu	37	chr5	140531055	140531055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctggtaacagaaggcgCgctggacagagagagcagag	13	3	15	10	2	0	4	0	0	0	4	0	6	0	5	1	3	2	3	1	3	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140531055C>T	ENST00000231136.1	+	1	1217	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A270V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			ACAGAAGGCGCGCTGGACAGA	0.483																																							0											0													112	114	114					5																	140531055		2203	4300	6503	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1217C>T	5.37:g.140531055C>T	ENSP00000231136:p.Ala406Val		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A406V	ENST00000231136.1	37	c.1217	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	8.566	0.878808	0.17395	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.02656	4.21;4.21	4.59	3.69	0.42338	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.04588	0.0125	L	0.51422	1.61	0.09310	N	1	P	0.44946	0.846	B	0.43658	0.426	T	0.35992	-0.9766	9	0.62326	D	0.03	.	7.6785	0.28499	0.1741:0.7427:0.0:0.0832	.	406	Q9Y5E3	PCDB6_HUMAN	V	270;406;191	ENSP00000438466:A270V;ENSP00000231136:A406V	ENSP00000231136:A406V	A	+	2	0	PCDHB6	140511239	0.000000	0.05858	0.013000	0.15412	0.017000	0.09413	-0.234000	0.09028	0.992000	0.38840	0.561000	0.74099	GCG	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.483	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	88	91	0	0.00	0	0	C	NM_018939	0	0		140531055	1	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	55	86	35.29	35.82	30	48	SNP	0.024	T	T	140531055	C	T	140531055	3	4	97	1	0	0	0	0	1	0	0	0	11546	768	27	1	1219	1	PCDHB6	5	140531055	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	274111	140531055	40384205	237	1436											
PCDHGA1	56114	genome.wustl.edu	37	chr5	140712134	140712134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacgggcgaggtgcgcaCggcgcgagccctgctggaca	7	3	17	14	6	0	0	0	0	0	0	0	3	0	1	1	4	3	3	1	4	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140712134C>T	ENST00000517417.1	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T628M	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	628	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)|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)			GAGGTGCGCACGGCGCGAGCC	0.697																																							0											0													25	30	28					5																	140712134		2186	4269	6455	SO:0001583	missense	0			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.1883C>T	5.37:g.140712134C>T	ENSP00000431083:p.Thr628Met		Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T628M	ENST00000517417.1	37	c.1883	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317290	0.81469	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.56941	0.43;0.43	3.92	3.92	0.45320	Cadherin (4);Cadherin-like (1);	0.000000	0.50627	D	0.000106	T	0.79275	0.4418	H	0.95504	3.68	0.38162	D	0.93906	D;D	0.89917	1.0;0.998	D;D	0.68353	0.928;0.957	D	0.87625	0.2512	10	0.72032	D	0.01	.	15.2915	0.73870	0.0:1.0:0.0:0.0	.	628;628	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	M	628	ENSP00000431083:T628M;ENSP00000367345:T628M	ENSP00000367345:T628M	T	+	2	0	PCDHGA1	140692318	0.960000	0.32886	0.930000	0.37139	0.971000	0.66376	2.886000	0.48578	2.204000	0.70986	0.580000	0.79431	ACG	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	protein_coding	OTTHUMT00000374737.1	29	4	0	0.00	0	0	C	NM_018912	0	0		140712134	1	no_errors	ENST00000517417	ensembl	human	known	74_37	missense	31	1	26.19	66.67	11	2	SNP	0.999	T	T	140712134	C	T	140712134	3	4	97	1	0	0	0	0	1	0	0	0	11550	536	19	1	1885	1	PCDHGA1	5	140712134	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	181079	140712134	40203126	238	1437											
PCDHGA8	9708	genome.wustl.edu	37	chr5	140774369	140774369	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcacgctcaccgtagcCgtggctgacagcatccccga	8	7	10	16	4	2	1	2	1	0	0	3	2	3	1	4	1	2	4	4	1	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140774369C>T	ENST00000398604.2	+	1	1989	c.1989C>T	c.(1987-1989)gcC>gcT	p.A663A	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	663	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)			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)			TCACCGTAGCCGTGGCTGACA	0.632																																							0											0													41	48	46					5																	140774369		2202	4300	6502	SO:0001819	synonymous_variant	0			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.1989C>T	5.37:g.140774369C>T			A7MCZ4|O15039	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A663	ENST00000398604.2	37	c.1989	CCDS47291.1	5																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.632	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	protein_coding	OTTHUMT00000376972.1	49	52	0	0.00	0	0	C	NM_032088	0	0		140774369	1	no_errors	ENST00000398604	ensembl	human	known	74_37	silent	35	43	26.53	20.37	13	11	SNP	0.007	T	T	140774369	C	T	140774369	2	4	97	1	0	0	0	0	0	0	0	1	11560	639	23	2		2	PCDHGA8	5	140774369	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	62235	140774369	40140891	239	1438											
ABLIM3	22885	genome.wustl.edu	37	chr5	148627364	148627364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccaaagtggaattggccGgctgattctgaaggaagaaa	13	8	13	7	1	1	3	0	2	1	1	2	5	2	5	2	4	0	2	2	4	5	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:148627364G>A	ENST00000506113.1	+	17	2053	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q	ABLIM3_ENST00000504238.1_Missense_Mutation_p.R413Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R429Q|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R10Q|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R524Q|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R413Q|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R491Q|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	524					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.R524L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAATTGGCCGGCTGATTCTG	0.572																																							0											1	Substitution - Missense(1)	lung(1)											44	47	46					5																	148627364		2203	4300	6503	SO:0001583	missense	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1571G>A	5.37:g.148627364G>A	ENSP00000425394:p.Arg524Gln		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	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.R524Q	ENST00000506113.1	37	c.1571	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492042	0.64074	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	N	0.16266	0.395	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.83275	0.996;0.984;0.982;0.913	T	0.11348	-1.0591	10	0.06625	T	0.88	.	19.6415	0.95760	0.0:0.0:1.0:0.0	.	10;429;413;524	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	Q	429;413;524;524;413;491;10;9	ENSP00000315841:R429Q;ENSP00000348938:R413Q;ENSP00000310309:R524Q;ENSP00000425394:R524Q;ENSP00000421183:R413Q;ENSP00000420855:R491Q;ENSP00000430150:R10Q	ENSP00000310309:R524Q	R	+	2	0	ABLIM3	148607557	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.758000	0.91663	2.651000	0.90000	0.561000	0.74099	CGG	0	NULL		0.572	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	protein_coding	OTTHUMT00000373435.1	44	248	2.22	0.00	1	0	G	NM_014945	0	0		148627364	1	no_errors	ENST00000309868	ensembl	human	known	74_37	missense	21	166	25	22.43	7	48	SNP	1	A	A	148627364	G	A	148627364	3	1	97	1	0	0	0	0	1	0	0	0	96	1116	39	2	1637	2	ABLIM3	5	148627364	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	7852995	148627364	32287896	240	1439											
ABLIM3	22885	genome.wustl.edu	37	chr5	148627430	148627430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatccctggacccctccccGgagctccaccagcagccggg	7	4	11	19	2	0	1	0	0	0	1	3	3	3	3	8	3	3	2	8	3	0	0	rs138587496		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:148627430G>A	ENST00000506113.1	+	17	2119	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q	ABLIM3_ENST00000504238.1_Missense_Mutation_p.R435Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R451Q|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R32Q|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R546Q|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R435Q|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R513Q|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	546					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCCTCCCCGGAGCTCCACC	0.612																																							0.9998,.,0.0001997											0								G	GLN/ARG	0,4406		0,0,2203	30	33	32		1637	5.6	1	5	dbSNP_134	32	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ABLIM3	NM_014945.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	546/684	148627430	2,13004	2203	4300	6503	SO:0001583	missense	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1637G>A	5.37:g.148627430G>A	ENSP00000425394:p.Arg546Gln		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	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.R546Q	ENST00000506113.1	37	c.1637	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903044	0.72754	0.0	2.33E-4	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	L	0.43923	1.385	0.47698	D	0.999492	D;D;D;D	0.76494	0.997;0.999;0.999;0.998	P;D;D;P	0.74023	0.726;0.982;0.975;0.621	T	0.55661	-0.8106	10	0.46703	T	0.11	.	19.6415	0.95760	0.0:0.0:1.0:0.0	.	32;451;435;546	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	Q	451;435;546;546;435;513;32;31	ENSP00000315841:R451Q;ENSP00000348938:R435Q;ENSP00000310309:R546Q;ENSP00000425394:R546Q;ENSP00000421183:R435Q;ENSP00000420855:R513Q;ENSP00000430150:R32Q	ENSP00000310309:R546Q	R	+	2	0	ABLIM3	148607623	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.758000	0.91663	2.651000	0.90000	0.561000	0.74099	CGG	0	NULL		0.612	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	protein_coding	OTTHUMT00000373435.1	36	175	0	0.57	0	1	G	NM_014945	rs138587496	G->A,C		148627430	1	no_errors	ENST00000309868	ensembl	human	known	74_37	missense	24	134	13.79	25.56	4	46	SNP	1	A	A	148627430	G	A	148627430	3	1	97	1	0	0	0	0	1	0	0	0	96	1116	39	2	1703	2	ABLIM3	5	148627430	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	66	148627430	32287830	241	1440											
TCOF1	6949	genome.wustl.edu	37	chr5	149756011	149756011	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtggggaaaggcctccAggtgaaagcagcctcagtgc	9	7	15	10	0	2	1	1	1	1	0	3	2	3	2	3	4	3	1	3	4	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:149756011A>G	ENST00000504761.2	+	14	2168	c.2168A>G	c.(2167-2169)cAg>cGg	p.Q723R	TCOF1_ENST00000323668.7_Missense_Mutation_p.Q646R|TCOF1_ENST00000439160.2_Missense_Mutation_p.Q723R|TCOF1_ENST00000394269.3_Missense_Mutation_p.Q723R|TCOF1_ENST00000445265.2_Missense_Mutation_p.Q646R|TCOF1_ENST00000513346.1_Missense_Mutation_p.Q723R|TCOF1_ENST00000377797.3_Missense_Mutation_p.Q723R|TCOF1_ENST00000451292.1_Missense_Mutation_p.Q723R			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	723					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)			AAAGGCCTCCAGGTGAAAGCA	0.622																																							0											0													48	51	50					5																	149756011		2203	4300	6503	SO:0001583	missense	0				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.2168A>G	5.37:g.149756011A>G	ENSP00000421655:p.Gln723Arg		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.Q723R	ENST00000504761.2	37	c.2168	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854525	0.32791	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.37	0.699	0.18093	Treacher Collins syndrome, treacle (1);	0.415534	0.17778	N	0.162321	T	0.55577	0.1929	M	0.63843	1.955	0.09310	N	1	B;B;B;B;B;B;B	0.26258	0.124;0.102;0.102;0.102;0.145;0.102;0.102	B;B;B;B;B;B;B	0.30105	0.037;0.022;0.033;0.022;0.111;0.033;0.022	T	0.54925	-0.8220	10	0.72032	D	0.01	-1.8217	7.0402	0.25015	0.5649:0.3297:0.1054:0.0	.	232;723;646;723;723;646;723	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	R	723;723;646;646;723;723;723;723;723	ENSP00000400939:Q723R;ENSP00000367028:Q723R;ENSP00000409944:Q646R;ENSP00000325223:Q646R;ENSP00000406888:Q723R;ENSP00000377811:Q723R;ENSP00000390717:Q723R;ENSP00000421655:Q723R;ENSP00000427484:Q723R	ENSP00000325223:Q646R	Q	+	2	0	TCOF1	149736204	0.000000	0.05858	0.008000	0.14137	0.466000	0.32739	-0.021000	0.12504	0.559000	0.29153	0.459000	0.35465	CAG	0	pfam_TCS_treacle		0.622	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	protein_coding	OTTHUMT00000380552.1	42	117	2.33	0.00	1	0	A	NM_001008656	0	0		149756011	1	no_errors	ENST00000451292	ensembl	human	known	74_37	missense	30	119	14.29	25.16	5	40	SNP	0.005	G	G	149756011	A	G	149756011	3	3	97	1	0	0	0	0	1	0	0	0	15705	188	7	4	2222	4	TCOF1	5	149756011	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	1128581	149756011	31159249	242	1441											
ODZ2	57451	genome.wustl.edu	37	chr5	167551991	167551991	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcagtgggcatggcacGtacctgcctgacacgggcct	7	7	14	13	2	0	1	0	1	0	0	0	1	0	1	3	3	3	4	3	3	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:167551991G>A	ENST00000518659.1	+	11	2184	c.2145G>A	c.(2143-2145)acG>acA	p.T715T	TENM2_ENST00000520394.1_Silent_p.T483T|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Silent_p.T548T|TENM2_ENST00000519204.1_Silent_p.T594T|TENM2_ENST00000545108.1_Silent_p.T715T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	715	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)										GGCATGGCACGTACCTGCCTG	0.597																																							0											0													48	53	51					5																	167551991		2124	4224	6348	SO:0001819	synonymous_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2145G>A	5.37:g.167551991G>A			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.T715	ENST00000518659.1	37	c.2145		5																																																																																			0	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom		0.597	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	30	87	0	0.00	0	0	G	NM_001122679	0	0		167551991	1	no_errors	ENST00000518659	ensembl	human	known	74_37	silent	25	47	19.35	33.80	6	24	SNP	0.001	A	A	167551991	G	A	167551991	2	1	97	1	0	0	0	0	0	0	0	1	10835	1132	40	1		1	ODZ2	5	167551991	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	17795980	167551991	13363269	243	1442											
DOCK2	1794	genome.wustl.edu	37	chr5	169188602	169188602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtctatgaatgagataGtccagagcaacctctttaaa	15	11	7	8	0	2	3	0	2	2	2	3	4	3	3	2	0	3	1	2	0	7	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:169188602G>A	ENST00000256935.8	+	25	2607	c.2527G>A	c.(2527-2529)Gtc>Atc	p.V843I	DOCK2_ENST00000520908.1_Missense_Mutation_p.V335I|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	843					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.V843F(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAATGAGATAGTCCAGAGCAA	0.488																																							0											1	Substitution - Missense(1)	lung(1)											148	144	146					5																	169188602		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2527G>A	5.37:g.169188602G>A	ENSP00000256935:p.Val843Ile		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.V843I	ENST00000256935.8	37	c.2527	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	30	5.056920	0.93846	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.69806	-0.43;-0.43;-0.43	5.51	5.51	0.81932	.	0.056845	0.64402	D	0.000001	T	0.68632	0.3022	M	0.62154	1.92	0.80722	D	1	P;P	0.48089	0.47;0.905	B;B	0.43680	0.095;0.427	T	0.70447	-0.4869	10	0.44086	T	0.13	.	18.5542	0.91077	0.0:0.0:1.0:0.0	.	335;843	E7ERW7;Q92608	.;DOCK2_HUMAN	I	843;224;335;47	ENSP00000256935:V843I;ENSP00000429283:V335I;ENSP00000428841:V47I	ENSP00000256935:V843I	V	+	1	0	DOCK2	169121180	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.836000	0.92105	2.755000	0.94549	0.650000	0.86243	GTC	0	superfamily_ARM-type_fold		0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	28	163	0	0.00	0	0	G	NM_004946	0	0		169188602	1	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	22	110	31.25	25.00	10	37	SNP	1	A	A	169188602	G	A	169188602	3	1	97	1	0	0	0	0	1	0	0	0	4687	1029	36	3	2625	3	DOCK2	5	169188602	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1636611	169188602	11726658	244	1443											
FLT4	2324	genome.wustl.edu	37	chr5	180055995	180055995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcgacgctgatgaagggAttttctgccggacaggagaa	11	8	13	9	3	1	3	0	2	1	1	2	7	1	5	1	3	1	1	1	3	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:180055995A>T	ENST00000261937.6	-	8	1068	c.990T>A	c.(988-990)aaT>aaA	p.N330K	FLT4_ENST00000502649.1_Missense_Mutation_p.N330K|FLT4_ENST00000393347.3_Missense_Mutation_p.N330K|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	330					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)	TGATGAAGGGATTTTCTGCCG	0.652																																					Colon(97;1075 1466 27033 27547 35871)		0											0													46	46	46					5																	180055995		2202	4295	6497	SO:0001583	missense	0			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.990T>A	5.37:g.180055995A>T	ENSP00000261937:p.Asn330Lys		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.N330K	ENST00000261937.6	37	c.990	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	A	1.880	-0.458198	0.04508	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.24908	1.83;1.83;1.83	4.82	0.694	0.18062	Immunoglobulin-like fold (1);	.	.	.	.	T	0.03263	0.0095	N	0.00043	-2.47	0.23984	N	0.996269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41088	-0.9528	9	0.02654	T	1	.	5.1316	0.14913	0.1341:0.5462:0.0:0.3197	.	330;330;330	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	K	330;330;330;140	ENSP00000261937:N330K;ENSP00000377016:N330K;ENSP00000426057:N330K	ENSP00000261937:N330K	N	-	3	2	FLT4	179988601	0.999000	0.42202	1.000000	0.80357	0.809000	0.45718	0.690000	0.25451	0.137000	0.18759	-0.233000	0.12211	AAT	0	NULL		0.652	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	protein_coding	OTTHUMT00000253527.4	95	129	0	0.00	0	0	A		0	0		180055995	-1	no_errors	ENST00000261937	ensembl	human	known	74_37	missense	47	87	25.4	23.01	16	26	SNP	1	T	T	180055995	A	T	180055995	3	4	97	1	0	0	0	0	1	0	0	0	5944	330	12	5	3201	5	FLT4	5	180055995	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	10867393	180055995	859265	245	1444											
EXOC2	55770	genome.wustl.edu	37	chr6	564069	564069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacgtggccattacgcaacGtactcggagatccaagatga	13	7	10	11	4	0	3	0	1	0	2	2	4	1	3	2	2	4	2	2	2	5	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:564069G>A	ENST00000230449.4	-	16	1888	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C	EXOC2_ENST00000448181.3_Missense_Mutation_p.R180C	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	585					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.R585C(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)		ATTACGCAACGTACTCGGAGA	0.463																																							0											1	Substitution - Missense(1)	endometrium(1)											142	119	127					6																	564069		2203	4300	6503	SO:0001583	missense	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1753C>T	6.37:g.564069G>A	ENSP00000230449:p.Arg585Cys		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.R585C	ENST00000230449.4	37	c.1753	CCDS34327.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.123235	0.94429	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.24908	1.83;1.83	5.73	5.73	0.89815	.	0.095824	0.64402	D	0.000001	T	0.26231	0.0640	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	P	0.46144	0.505	T	0.04128	-1.0975	10	0.66056	D	0.02	-7.2372	19.8916	0.96931	0.0:0.0:1.0:0.0	.	585	Q96KP1	EXOC2_HUMAN	C	585;180	ENSP00000230449:R585C;ENSP00000398113:R180C	ENSP00000230449:R585C	R	-	1	0	EXOC2	509069	1.000000	0.71417	0.818000	0.32626	0.948000	0.59901	9.185000	0.94900	2.717000	0.92951	0.585000	0.79938	CGT	0	NULL		0.463	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	protein_coding	OTTHUMT00000039627.1	68	179	0	0.00	0	0	G	NM_018303	0	0		564069	-1	no_errors	ENST00000230449	ensembl	human	known	74_37	missense	31	152	21.43	32.60	9	74	SNP	1	A	A	564069	G	A	564069	3	1	97	1	0	0	0	0	1	0	0	0	5302	1145	40	1	1073	1	EXOC2	6	564069	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09		564069	170550998	246	1445											
HIVEP1	3096	genome.wustl.edu	37	chr6	12122183	12122183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttgtcaccacgtcaacaCcctctgctttgcccacaggg	7	10	7	17	1	4	0	2	0	2	0	4	0	4	0	3	1	3	1	3	1	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:12122183C>T	ENST00000379388.2	+	4	2487	c.2155C>T	c.(2155-2157)Ccc>Tcc	p.P719S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	719					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)				CACGTCAACACCCTCTGCTTT	0.522																																							0											0													63	63	63					6																	12122183		2082	4199	6281	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2155C>T	6.37:g.12122183C>T	ENSP00000368698:p.Pro719Ser		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P719S	ENST00000379388.2	37	c.2155	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279306	0.23307	.	.	ENSG00000095951	ENST00000379388	T	0.10573	2.86	5.92	2.17	0.27698	.	0.227066	0.22834	N	0.055072	T	0.02533	0.0077	L	0.50333	1.59	0.23739	N	0.996979	B	0.24721	0.11	B	0.16722	0.016	T	0.43196	-0.9406	9	.	.	.	-7.662	3.5094	0.07703	0.2058:0.4599:0.2122:0.122	.	719	P15822	ZEP1_HUMAN	S	719	ENSP00000368698:P719S	.	P	+	1	0	HIVEP1	12230169	0.006000	0.16342	0.156000	0.22583	0.013000	0.08279	0.367000	0.20382	0.425000	0.26087	0.655000	0.94253	CCC	0	NULL		0.522	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	protein_coding	OTTHUMT00000039870.2	42	161	0	0.00	0	0	C	NM_002114	0	0		12122183	1	no_errors	ENST00000379388	ensembl	human	known	74_37	missense	22	146	26.67	29.81	8	62	SNP	0.109	T	T	12122183	C	T	12122183	3	4	97	1	0	0	0	0	1	0	0	0	7186	507	18	3	2165	3	HIVEP1	6	12122183	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	11558114	12122183	158992884	247	1446											
ALDH5A1	7915	genome.wustl.edu	37	chr6	24503567	24503567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttctctgaggaagcccGccgtgtttacggagacatta	8	11	13	9	3	1	2	0	1	1	1	2	4	1	3	2	3	2	2	2	3	3	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:24503567G>A	ENST00000357578.3	+	3	660	c.515G>A	c.(514-516)cGc>cAc	p.R172H	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R144H|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R172H|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R84H	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	172					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)	GAGGAAGCCCGCCGTGTTTAC	0.537																																							0											0													44	44	44					6																	24503567		2203	4300	6503	SO:0001583	missense	0			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.515G>A	6.37:g.24503567G>A	ENSP00000350191:p.Arg172His		B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	p.R172H	ENST00000357578.3	37	c.515	CCDS4555.1	6	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965949	0.92855	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.22	5.22	0.72569	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.86130	0.5859	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.984	D	0.86952	0.2086	10	0.87932	D	0	.	18.9912	0.92793	0.0:0.0:1.0:0.0	.	172;172	P51649;G5E949	SSDH_HUMAN;.	H	172;84;144;172	ENSP00000350191:R172H;ENSP00000438193:R84H;ENSP00000417687:R144H;ENSP00000314649:R172H	ENSP00000314649:R172H	R	+	2	0	ALDH5A1	24611546	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.360000	0.97119	2.708000	0.92522	0.650000	0.86243	CGC	0	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH		0.537	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH5A1	protein_coding	OTTHUMT00000040007.2	19	201	0	0.00	0	0	G		0	0		24503567	1	no_errors	ENST00000348925	ensembl	human	known	74_37	missense	12	151	20	28.44	3	60	SNP	1	A	A	24503567	G	A	24503567	3	1	97	1	0	0	0	0	1	0	0	0	502	1087	38	1	525	1	ALDH5A1	6	24503567	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	12381384	24503567	146611500	248	1447											
ZKSCAN4	387032	genome.wustl.edu	37	chr6	28212908	28212908	+	Frame_Shift_Del	DEL	T	T	-																															catgggtcactgtgaaagagTttttttccctacatggcttc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:28212908delT	ENST00000377294.2	-	5	1867	c.1624delA	c.(1624-1626)actfs	p.T542fs	ZKSCAN4_ENST00000423974.2_Frame_Shift_Del_p.T387fs	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	542					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(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGTGAAAGAGTTTTTTTCCCT	0.443																																							0											0													155	141	146					6																	28212908		2203	4300	6503	SO:0001589	frameshift_variant	0			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1624delA	6.37:g.28212908delT	ENSP00000366509:p.Thr542fs		B2RE32|Q5U7L4	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.T542fs	ENST00000377294.2	37	c.1624	CCDS4647.1	6																																																																																			0	pfscan_Znf_C2H2		0.443	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN4	protein_coding	OTTHUMT00000040179.1	50	234	0	0.00	0	0	T	NM_019110	0	0		28212908	-1	no_errors	ENST00000377294	ensembl	human	known	74_37	frame_shift_del	25	196	30.56	25.76	11	68	DEL	0.001	0	-	28212908	T	-	28212908	7	5	97	1	0	1	0	1	0	0	0	0	17686	1725	60	0	17	0	ZKSCAN4	6	28212908	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	3709341	28212908	142902159	249	1448											
OR11A1	26531	genome.wustl.edu	37	chr6	29394998	29394998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaccagccccatgtaccGtctgggccccatcaggagtg	8	6	11	16	1	2	0	1	0	1	0	2	2	2	1	7	2	2	1	7	2	1	1	rs138146725		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:29394998G>A	ENST00000377149.1	-	5	893	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	OR11A1_ENST00000377148.1_Missense_Mutation_p.R141W|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.R141W			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	141						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						CCCATGTACCGTCTGGGCCCC	0.577																																							0											0								G	TRP/ARG	0,3010		0,0,1505	73	81	78		421	-2.2	0	6	dbSNP_134	78	1,5413		0,1,2706	no	missense	OR11A1	NM_013937.2	101	0,1,4211	AA,AG,GG		0.0185,0.0,0.0119	benign	141/316	29394998	1,8423	1505	2707	4212	SO:0001583	missense	0				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.421C>T	6.37:g.29394998G>A	ENSP00000366354:p.Arg141Trp		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.R141W	ENST00000377149.1	37	c.421	CCDS34363.1	6	.	.	.	.	.	.	.	.	.	.	G	1.142	-0.649330	0.03506	0.0	1.85E-4	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.41065	1.01;1.01;1.01	3.78	-2.18	0.07037	GPCR, rhodopsin-like superfamily (1);	3.472800	0.01655	N	0.024795	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.23013	-1.0200	10	0.52906	T	0.07	0.6654	4.6244	0.12470	0.2909:0.3594:0.3497:0.0	.	141	Q9GZK7	O11A1_HUMAN	W	141	ENSP00000366353:R141W;ENSP00000366354:R141W;ENSP00000366352:R141W	ENSP00000366352:R141W	R	-	1	2	OR11A1	29502977	0.000000	0.05858	0.045000	0.18777	0.014000	0.08584	-1.119000	0.03276	-0.202000	0.10268	-0.700000	0.03674	CGG	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.577	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR11A1	protein_coding	OTTHUMT00000193778.1	18	178	0	0.00	0	0	G		rs138146725	G->A		29394998	-1	no_errors	ENST00000377147	ensembl	human	known	74_37	missense	11	118	52.17	30.18	12	51	SNP	0	A	A	29394998	G	A	29394998	3	1	97	1	0	0	0	0	1	0	0	0	10924	1144	40	1	530	1	OR11A1	6	29394998	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1182090	29394998	141720069	250	1449											
PPP1R10	5514	genome.wustl.edu	37	chr6	30570148	30570148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccactgctgttgcccatgcCcccaccagggccttcgtgag	5	9	10	17	1	0	1	0	1	0	0	2	1	1	1	6	1	3	2	6	1	0	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:30570148C>A	ENST00000376511.2	-	19	2830	c.2278G>T	c.(2278-2280)Ggc>Tgc	p.G760C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	760	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						TTGCCCATGCCCCCACCAGGG	0.672																																							0											0													128	139	135					6																	30570148		1509	2707	4216	SO:0001583	missense	0			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.2278G>T	6.37:g.30570148C>A	ENSP00000365694:p.Gly760Cys		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.G760C	ENST00000376511.2	37	c.2278	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	1.777	-0.482900	0.04383	.	.	ENSG00000204569	ENST00000376511	T	0.45276	0.9	4.18	1.34	0.21922	.	0.418054	0.22275	N	0.062218	T	0.11623	0.0283	N	0.08118	0	0.36769	D	0.88372	D	0.53619	0.961	B	0.44278	0.445	T	0.06197	-1.0840	10	0.59425	D	0.04	-3.7353	8.4784	0.33027	0.0:0.7333:0.0:0.2667	.	760	Q96QC0	PP1RA_HUMAN	C	760	ENSP00000365694:G760C	ENSP00000365694:G760C	G	-	1	0	PPP1R10	30678127	0.944000	0.32072	0.693000	0.30195	0.003000	0.03518	1.670000	0.37502	0.164000	0.19529	-0.300000	0.09419	GGC	0	NULL		0.672	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	protein_coding	OTTHUMT00000076556.2	79	75	0	0.00	0	0	C	NM_002714	0	0		30570148	-1	no_errors	ENST00000376511	ensembl	human	known	74_37	missense	38	62	35.59	39.22	21	40	SNP	0.974	A	A	30570148	C	A	30570148	3	1	97	1	0	0	0	0	1	0	0	0	12352	623	22	5	552	5	PPP1R10	6	30570148	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1175150	30570148	140544919	251	1450											
PPP1R10	5514	genome.wustl.edu	37	chr6	30572490	30572490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcttggttctgtgctcGttttcccttcaaaggggctt	3	17	11	10	1	2	0	1	0	1	0	4	0	3	0	1	3	2	5	1	3	1	6	rs569378424		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:30572490G>A	ENST00000376511.2	-	12	1529	c.977C>T	c.(976-978)aCg>aTg	p.T326M		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	326	Interaction with TOX4. {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						TTCTGTGCTCGTTTTCCCTTC	0.537													G|||	1	0.000199681	8e-04	0	5008	,	,		19435	0		0	False		,,,				2504	0						0.9998,0.0001997											0													293	286	288					6																	30572490		1511	2709	4220	SO:0001583	missense	0			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.977C>T	6.37:g.30572490G>A	ENSP00000365694:p.Thr326Met		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.T326M	ENST00000376511.2	37	c.977	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834898	0.32421	.	.	ENSG00000204569	ENST00000376511	T	0.46819	0.86	5.46	4.5	0.54988	.	0.721560	0.13861	N	0.357676	T	0.15869	0.0382	N	0.08118	0	0.33640	D	0.607187	P	0.37708	0.606	B	0.32289	0.143	T	0.12243	-1.0555	10	0.48119	T	0.1	-1.824	15.9423	0.79768	0.0:0.0:0.8559:0.144	.	326	Q96QC0	PP1RA_HUMAN	M	326	ENSP00000365694:T326M	ENSP00000365694:T326M	T	-	2	0	PPP1R10	30680469	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	6.425000	0.73370	2.561000	0.86390	0.655000	0.94253	ACG	0	NULL		0.537	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	protein_coding	OTTHUMT00000076556.2	49	271	0	0.00	0	0	G	NM_002714	rs569378424	G->A		30572490	-1	no_errors	ENST00000376511	ensembl	human	known	74_37	missense	25	227	24.24	30.79	8	101	SNP	0.947	A	A	30572490	G	A	30572490	3	1	97	1	0	0	0	0	1	0	0	0	12352	1145	40	1	1881	1	PPP1R10	6	30572490	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2342	30572490	140542577	252	1451											
BAT3	7917	genome.wustl.edu	37	chr6	31609347	31609347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatactcttctagccccGtgatcaatgtgtgggttgcc	7	12	10	12	1	3	1	1	1	2	0	3	1	3	1	3	1	3	2	3	1	3	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:31609347G>A	ENST00000375964.6	-	17	2751	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	BAG6_ENST00000404765.2_Missense_Mutation_p.T843M|BAG6_ENST00000362049.6_Missense_Mutation_p.T807M|BAG6_ENST00000439687.2_Missense_Mutation_p.T681M|BAG6_ENST00000375976.4_Missense_Mutation_p.T807M|BAG6_ENST00000211379.5_Missense_Mutation_p.T807M|BAG6_ENST00000470875.1_5'Flank	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	813					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						TTCTAGCCCCGTGATCAATGT	0.532																																							0											0													121	126	125					6																	31609347		2203	4300	6503	SO:0001583	missense	0			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.2438C>T	6.37:g.31609347G>A	ENSP00000365131:p.Thr813Met		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.T843M	ENST00000375964.6	37	c.2528	CCDS47403.1	6	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436041	0.43224	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.02	3.18	0.36537	.	0.290318	0.36555	N	0.002534	T	0.20292	0.0488	N	0.22421	0.69	0.26800	N	0.969217	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	P;D;P;D	0.70716	0.853;0.97;0.891;0.931	T	0.04664	-1.0935	10	0.66056	D	0.02	.	6.7878	0.23683	0.0831:0.0:0.4937:0.4233	.	681;807;813;807	E7EMZ4;F8VXY4;P46379;P46379-2	.;.;BAG6_HUMAN;.	M	807;813;807;843;681;807	ENSP00000365143:T807M;ENSP00000365131:T813M;ENSP00000211379:T807M;ENSP00000384494:T843M;ENSP00000402856:T681M;ENSP00000354875:T807M	ENSP00000211379:T807M	T	-	2	0	BAG6	31717326	0.994000	0.37717	0.504000	0.27639	0.767000	0.43475	2.389000	0.44407	0.600000	0.29862	0.650000	0.86243	ACG	0	NULL		0.532	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	protein_coding		56	245	0	0.00	0	0	G	NM_080703	0	0		31609347	-1	no_errors	ENST00000404765	ensembl	human	known	74_37	missense	18	272	14.29	7.48	3	22	SNP	0.839	A	A	31609347	G	A	31609347	3	1	97	1	0	0	0	0	1	0	0	0	1322	1145	40	1	996	1	BAT3	6	31609347	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1036857	31609347	139505720	253	1452											
ZBTB9	221504	genome.wustl.edu	37	chr6	33424133	33424133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcatctgcaacaagcGcttcaagctgaagcaccatc	11	8	9	13	1	2	1	1	1	1	0	3	1	2	1	1	1	5	5	1	1	4	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:33424133G>A	ENST00000395064.2	+	2	1524	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGCAACAAGCGCTTCAAGCTG	0.582																																							0											0													77	66	70					6																	33424133		2203	4300	6503	SO:0001583	missense	0			AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.1256G>A	6.37:g.33424133G>A	ENSP00000378503:p.Arg419His		A2AB19	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.R419H	ENST00000395064.2	37	c.1256	CCDS4780.1	6	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494498	0.64186	.	.	ENSG00000213588	ENST00000395064	T	0.43688	0.94	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.285329	0.21589	U	0.072132	T	0.47284	0.1437	M	0.70275	2.135	0.33210	D	0.553289	D	0.76494	0.999	P	0.62184	0.899	T	0.53129	-0.8482	10	0.51188	T	0.08	.	9.4302	0.38606	0.0935:0.0:0.9065:0.0	.	419	Q96C00	ZBTB9_HUMAN	H	419	ENSP00000378503:R419H	ENSP00000378503:R419H	R	+	2	0	ZBTB9	33532111	0.796000	0.28864	1.000000	0.80357	0.999000	0.98932	1.192000	0.32150	2.654000	0.90174	0.655000	0.94253	CGC	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.582	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB9	protein_coding	OTTHUMT00000276533.1	30	65	0	0.00	0	0	G	NM_152735	0	0		33424133	1	no_errors	ENST00000395064	ensembl	human	known	74_37	missense	7	52	68.18	30.67	15	23	SNP	1	A	A	33424133	G	A	33424133	3	1	97	1	0	0	0	0	1	0	0	0	17555	1087	38	1	1258	1	ZBTB9	6	33424133	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1814786	33424133	137690934	254	1453											
CPNE5	57699	genome.wustl.edu	37	chr6	36711478	36711478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcacctggacgatgtcGcgttcagccagcttcccccg	5	9	11	16	4	2	0	2	0	0	0	4	2	3	1	4	2	2	3	4	2	0	3	rs140027543		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:36711478G>A	ENST00000244751.2	-	20	2175	c.1551C>T	c.(1549-1551)cgC>cgT	p.R517R	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.R225R	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	517	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGACGATGTCGCGTTCAGCCA	0.642													G|||	1	0.000199681	0	0	5008	,	,		19625	0		0.001	False		,,,				2504	0						0.9998,0.0001997											0								G		1,4405	2.1+/-5.4	0,1,2202	101	99	100		1551	-6.8	0.6	6	dbSNP_134	100	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CPNE5	NM_020939.1		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		517/594	36711478	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1551C>T	6.37:g.36711478G>A			Q7Z6C8	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.R517	ENST00000244751.2	37	c.1551	CCDS4825.1	6																																																																																			0	smart_VWF_A,pfscan_VWF_A		0.642	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	protein_coding	OTTHUMT00000040351.1	47	80	0	0.00	0	0	G	NM_020939	rs140027543	G->A		36711478	-1	no_errors	ENST00000244751	ensembl	human	known	74_37	silent	36	59	29.41	23.38	15	18	SNP	0.791	A	A	36711478	G	A	36711478	2	1	97	1	0	0	0	0	0	0	0	1	3815	1074	38	1		1	CPNE5	6	36711478	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3287345	36711478	134403589	255	1454											
GLP1R	2740	genome.wustl.edu	37	chr6	39033981	39033981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgccacagagctccccGgaggagcagctcctgttcct	6	8	12	15	2	0	1	0	0	0	1	3	3	3	3	5	2	4	4	5	2	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:39033981G>A	ENST00000373256.4	+	5	454	c.411G>A	c.(409-411)ccG>ccA	p.P137P		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	137				P -> R (in Ref. 4; no nucleotide entry). {ECO:0000305}.|SP -> WG (in Ref. 1; AAA03614). {ECO:0000305}.	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)	AGAGCTCCCCGGAGGAGCAGC	0.597																																							0											0													126	93	104					6																	39033981		2203	4300	6503	SO:0001819	synonymous_variant	0				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.411G>A	6.37:g.39033981G>A			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.P137	ENST00000373256.4	37	c.411	CCDS4839.1	6																																																																																			0	prints_GPCR_2_GLP1_rcpt		0.597	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	protein_coding	OTTHUMT00000040443.1	30	120	0	0.00	0	0	G		0	0		39033981	1	no_errors	ENST00000373256	ensembl	human	known	74_37	silent	19	92	26.92	36.99	7	54	SNP	0.283	A	A	39033981	G	A	39033981	2	1	97	1	0	0	0	0	0	0	0	1	6452	1103	39	2		2	GLP1R	6	39033981	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2322503	39033981	132081086	256	1455											
LRFN2	57497	genome.wustl.edu	37	chr6	40360357	40360357	+	Frame_Shift_Del	DEL	G	G	-																															acggccgctgccatcttgctGggggcctcgtggttgcagac																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:40360357delG	ENST00000338305.6	-	3	2237	c.1695delC	c.(1693-1695)cccfs	p.P565fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	565						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)					CCATCTTGCTGGGGGCCTCGT	0.667																																							0											0													52	45	47					6																	40360357		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1695delC	6.37:g.40360357delG	ENSP00000345985:p.Pro565fs		A5PKU3|Q5SYP9	Frame_Shift_Del	DEL	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.S566fs	ENST00000338305.6	37	c.1695	CCDS34443.1	6																																																																																			0	NULL		0.667	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	protein_coding	OTTHUMT00000040488.1	9	52	0	0.00	0	0	G	XM_166372	0	0		40360357	-1	no_errors	ENST00000338305	ensembl	human	known	74_37	frame_shift_del	5	51	44.44	22.73	4	15	DEL	0	0	-	40360357	G	-	40360357	7	5	97	1	0	1	0	1	0	0	0	0	8938	1335	47	0	678	0	LRFN2	6	40360357	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	1326376	40360357	130754710	257	1456											
PGC	5225	genome.wustl.edu	37	chr6	41712478	41712478	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatacttgtgggtcctcAggaactcccccagcaagccc	9	8	9	15	0	2	0	2	0	0	0	4	2	4	1	4	2	4	1	4	2	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:41712478A>G	ENST00000373025.3	-	2	190	c.128T>C	c.(127-129)cTg>cCg	p.L43P	PGC_ENST00000425343.2_Missense_Mutation_p.L43P	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	43					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)			GTGGGTCCTCAGGAACTCCCC	0.527																																							0											0													84	71	76					6																	41712478		2203	4300	6503	SO:0001583	missense	0				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.128T>C	6.37:g.41712478A>G	ENSP00000362116:p.Leu43Pro		B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.L43P	ENST00000373025.3	37	c.128	CCDS4859.1	6	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350848	0.24512	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000394278;ENST00000356667;ENST00000425343;ENST00000415707	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.42	4.25	0.50352	Peptidase aspartic (1);Propeptide, peptidase A1 (1);	0.659034	0.14371	N	0.323797	T	0.75332	0.3835	M	0.91612	3.225	0.22819	N	0.998691	D	0.89917	1.0	D	0.78314	0.991	T	0.67829	-0.5569	10	0.46703	T	0.11	.	6.6301	0.22851	0.597:0.1377:0.0:0.2653	.	43	P20142	PEPC_HUMAN	P	43;43;43;43;43;47	ENSP00000362116:L43P;ENSP00000349094:L43P;ENSP00000405094:L43P;ENSP00000399429:L47P	ENSP00000349094:L43P	L	-	2	0	PGC	41820456	1.000000	0.71417	0.367000	0.25926	0.001000	0.01503	2.703000	0.47110	0.902000	0.36520	-0.335000	0.08231	CTG	0	pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom		0.527	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	protein_coding	OTTHUMT00000040521.2	81	228	0	0.00	0	0	A		0	0		41712478	-1	no_errors	ENST00000373025	ensembl	human	known	74_37	missense	31	188	20.51	26.74	8	69	SNP	0.017	G	G	41712478	A	G	41712478	3	3	97	1	0	0	0	0	1	0	0	0	11785	188	7	4	1379	4	PGC	6	41712478	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	1352121	41712478	129402589	258	1457											
FRS3	10817	genome.wustl.edu	37	chr6	41739096	41739096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatgtgccgccgagcagggGtcgggcccaacacaaacttc	9	5	12	15	3	0	0	0	0	0	0	2	1	0	0	4	3	4	1	4	3	2	1	rs202151715		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:41739096G>A	ENST00000373018.3	-	7	991	c.740C>T	c.(739-741)aCc>aTc	p.T247I	FRS3_ENST00000259748.2_Missense_Mutation_p.T247I	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	247					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGAGCAGGGGTCGGGCCCAA	0.632																																							0											0													52	54	53					6																	41739096		2203	4300	6503	SO:0001583	missense	0			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.740C>T	6.37:g.41739096G>A	ENSP00000362109:p.Thr247Ile		Q5T3D5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.T247I	ENST00000373018.3	37	c.740	CCDS4860.1	6	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208089	0.39003	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.32753	1.44;1.44	5.37	4.46	0.54185	.	0.261718	0.44688	D	0.000430	T	0.17577	0.0422	L	0.54323	1.7	0.20403	N	0.99991	P	0.38250	0.624	B	0.32864	0.154	T	0.11518	-1.0584	10	0.87932	D	0	-18.659	17.3513	0.87324	0.0:0.1356:0.8643:0.0	.	247	O43559	FRS3_HUMAN	I	247	ENSP00000362109:T247I;ENSP00000259748:T247I	ENSP00000259748:T247I	T	-	2	0	FRS3	41847074	0.980000	0.34600	0.678000	0.29963	0.995000	0.86356	4.362000	0.59467	2.531000	0.85337	0.655000	0.94253	ACC	0	NULL		0.632	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS3	protein_coding	OTTHUMT00000040532.2	54	194	0	0.51	0	1	G	NM_006653	0	0		41739096	-1	no_errors	ENST00000259748	ensembl	human	known	74_37	missense	35	113	30	32.14	15	54	SNP	0.195	A	A	41739096	G	A	41739096	3	1	97	1	0	0	0	0	1	0	0	0	6062	1261	44	3	742	3	FRS3	6	41739096	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	26618	41739096	129375971	259	1458											
PRICKLE4	29964	genome.wustl.edu	37	chr6	41752671	41752671	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaggactgtttctgcAggagcgctactgcctggccc	6	11	13	11	1	1	1	0	0	1	1	1	3	1	3	2	3	4	4	2	3	2	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:41752671A>T	ENST00000394260.1	+	2	120		c.e2-1		PRICKLE4_ENST00000394263.1_Splice_Site|PRICKLE4_ENST00000463606.1_3'UTR|PRICKLE4_ENST00000359201.5_Splice_Site|PRICKLE4_ENST00000458694.1_Splice_Site|PRICKLE4_ENST00000394259.1_Splice_Site|TOMM6_ENST00000398884.3_5'Flank|TOMM6_ENST00000398881.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)							nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGTTTCTGCAGGAGCGCTAC	0.597																																							0											0													59	66	64					6																	41752671		2203	4300	6503	SO:0001630	splice_region_variant	0			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"chromosome 6 open reading frame 49"	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.121-1A>T	6.37:g.41752671A>T			A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Splice_Site	SNP	0	e3-2	ENST00000394260.1	37	c.241-2		6	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012613	0.54468	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2682	0.37654	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRICKLE4	41860649	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.904000	0.87408	1.692000	0.51112	0.379000	0.24179	.	0	0		0.597	PRICKLE4-007	KNOWN	basic	protein_coding	PRICKLE4	protein_coding	OTTHUMT00000303948.1	42	95	0	0.00	0	0	A	NM_013397	0	0	Intron	41752671	1	no_errors	ENST00000335515	ensembl	human	known	74_37	splice_site	21	66	22.22	35.29	6	36	SNP	1	T	T	41752671	A	T	41752671	5	4	97	1	0	0	0	0	0	0	1	0	12489	202	7	5	249	5	PRICKLE4	6	41752671	Splice_Site	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	13575	41752671	129362396	260	1459											
POLH	5429	genome.wustl.edu	37	chr6	43572406	43572406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgatccagttaaacccagGcaactacccaaaaccattgg	15	7	6	13	0	0	1	0	1	0	0	1	1	1	1	4	2	4	2	4	2	6	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:43572406G>A	ENST00000372236.4	+	8	1234	c.939G>A	c.(937-939)agG>agA	p.R313R	POLH_ENST00000535400.1_Silent_p.R251R|POLH_ENST00000372226.1_Silent_p.R313R	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0					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)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TTAAACCCAGGCAACTACCCA	0.423								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																														0											0													115	106	109					6																	43572406		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.939G>A	6.37:g.43572406G>A			O95160|Q6VMB5	Silent	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N	p.R313	ENST00000372236.4	37	c.939	CCDS4902.1	6																																																																																			0	pfam_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta		0.423	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLH	protein_coding	OTTHUMT00000040666.1	92	310	0	0.00	0	0	G	NM_006502	0	0		43572406	1	no_errors	ENST00000372236	ensembl	human	known	74_37	silent	64	235	27.27	29.55	24	99	SNP	1	A	A	43572406	G	A	43572406	2	1	97	1	0	0	0	0	0	0	0	1	12202	1194	42	3		3	POLH	6	43572406	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1819735	43572406	127542661	261	1460											
SLC29A1	2030	genome.wustl.edu	37	chr6	44197488	44197488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgtgccatgctgcccCtgctgttattcacctacctc	5	13	6	17	0	1	0	1	0	0	0	2	0	1	0	6	0	5	3	6	0	3	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:44197488C>A	ENST00000393841.1	+	5	765	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	SLC29A1_ENST00000371740.5_Missense_Mutation_p.L92M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.L92M|SLC29A1_ENST00000371708.1_Missense_Mutation_p.L92M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371731.1_Missense_Mutation_p.L92M|SLC29A1_ENST00000371755.3_Missense_Mutation_p.L92M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.L171M|SLC29A1_ENST00000371724.1_Missense_Mutation_p.L92M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.L92M|SLC29A1_ENST00000427851.2_Missense_Mutation_p.L92M	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	92					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	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)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CATGCTGCCCCTGCTGTTATT	0.617																																							0											0													151	142	145					6																	44197488		2203	4300	6503	SO:0001583	missense	0			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.274C>A	6.37:g.44197488C>A	ENSP00000377424:p.Leu92Met		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.L171M	ENST00000393841.1	37	c.511	CCDS4908.1	6	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630321	0.67015	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.1	2.32	0.28847	.	0.000000	0.64402	D	0.000001	T	0.42131	0.1189	M	0.91038	3.17	0.46678	D	0.999154	D;D;P;D	0.89917	1.0;0.999;0.956;0.998	D;D;P;P	0.79108	0.992;0.983;0.85;0.873	T	0.41893	-0.9483	10	0.46703	T	0.11	-0.0579	8.3218	0.32134	0.0:0.7509:0.0:0.2491	.	92;111;171;92	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	M	111;92;171;92;92;92;92;92;92;92;92	ENSP00000377427:L92M;ENSP00000319152:L171M;ENSP00000392668:L92M;ENSP00000360820:L92M;ENSP00000360805:L92M;ENSP00000360796:L92M;ENSP00000377424:L92M;ENSP00000360789:L92M;ENSP00000360778:L92M;ENSP00000360773:L92M	ENSP00000319152:L171M	L	+	1	2	SLC29A1	44305466	0.870000	0.30015	0.900000	0.35374	0.943000	0.58893	1.698000	0.37794	0.304000	0.22809	0.563000	0.77884	CTG	0	superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt		0.617	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	protein_coding	OTTHUMT00000040721.1	12	99	0	0.00	0	0	C		0	0		44197488	1	no_errors	ENST00000313248	ensembl	human	known	74_37	missense	8	64	38.46	34.69	5	34	SNP	0.935	A	A	44197488	C	A	44197488	3	1	97	1	0	0	0	0	1	0	0	0	14534	680	24	5	284	5	SLC29A1	6	44197488	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	625082	44197488	126917579	262	1461											
TDRD6	221400	genome.wustl.edu	37	chr6	46656324	46656324	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagcactggcccgccgaCgccgtggacttccttagcaa	7	6	11	17	5	0	0	0	0	0	0	1	2	1	1	5	2	2	3	5	2	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:46656324C>T	ENST00000316081.6	+	1	459	c.459C>T	c.(457-459)gaC>gaT	p.D153D	TDRD6_ENST00000544460.1_Silent_p.D153D|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	153					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)			GGCCCGCCGACGCCGTGGACT	0.692																																							0											0													14	15	14					6																	46656324		2186	4270	6456	SO:0001819	synonymous_variant	0			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.459C>T	6.37:g.46656324C>T			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.D153	ENST00000316081.6	37	c.459	CCDS34470.1	6																																																																																			0	NULL		0.692	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	protein_coding	OTTHUMT00000040800.1	21	61	0	0.00	0	0	C	XM_166443	0	0		46656324	1	no_errors	ENST00000316081	ensembl	human	known	74_37	silent	14	43	22.22	33.85	4	22	SNP	0	T	T	46656324	C	T	46656324	2	4	97	1	0	0	0	0	0	0	0	1	15731	535	19	1		1	TDRD6	6	46656324	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2458836	46656324	124458743	263	1462											
TDRD6	221400	genome.wustl.edu	37	chr6	46660150	46660150	+	Frame_Shift_Del	DEL	A	A	-																															gatttgaggttcctgacaatAaaaattctaagaaaatgatg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:46660150delA	ENST00000316081.6	+	1	4285	c.4285delA	c.(4285-4287)aaafs	p.K1429fs	TDRD6_ENST00000544460.1_Frame_Shift_Del_p.K1429fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1429					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)			TCCTGACAATAAAAATTCTAA	0.388																																							0											0													145	152	149					6																	46660150		2203	4300	6503	SO:0001589	frameshift_variant	0			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.4285delA	6.37:g.46660150delA	ENSP00000346065:p.Lys1429fs		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Del	DEL	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.N1430fs	ENST00000316081.6	37	c.4285	CCDS34470.1	6																																																																																			0	NULL		0.388	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	protein_coding	OTTHUMT00000040800.1	44	255	0	0.00	0	0	A	XM_166443	0	0		46660150	1	no_errors	ENST00000316081	ensembl	human	known	74_37	frame_shift_del	29	154	21.62	30.63	8	68	DEL	0	0	-	46660150	A	-	46660150	7	5	97	1	0	1	0	1	0	0	0	0	15731	363	13	0	4287	0	TDRD6	6	46660150	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	3826	46660150	124454917	264	1463											
GPR115	221393	genome.wustl.edu	37	chr6	47681763	47681763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcctcaatttctccatgaGcatgaacaataccacagaag	16	8	6	11	0	2	3	1	2	1	1	3	3	2	3	3	0	4	1	3	0	6	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:47681763G>A	ENST00000283303.2	+	6	1040	c.782G>A	c.(781-783)aGc>aAc	p.S261N	GPR115_ENST00000371220.1_Missense_Mutation_p.S318N|GPR115_ENST00000327753.3_Missense_Mutation_p.S261N|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	261					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						TTCTCCATGAGCATGAACAAT	0.408																																					GBM(22;431 510 9010 26644 32828)		0											0													71	70	70					6																	47681763		2203	4300	6503	SO:0001583	missense	0			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.782G>A	6.37:g.47681763G>A	ENSP00000283303:p.Ser261Asn		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.S318N	ENST00000283303.2	37	c.953	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	G	1.404	-0.577235	0.03854	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.35421	1.55;1.31;1.31	5.19	-1.57	0.08506	.	0.797373	0.12188	N	0.491441	T	0.07324	0.0185	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42396	-0.9454	10	0.10902	T	0.67	-0.9246	7.0203	0.24910	0.4874:0.1201:0.3925:0.0	.	261	Q8IZF3	GP115_HUMAN	N	318;261;261	ENSP00000360264:S318N;ENSP00000328319:S261N;ENSP00000283303:S261N	ENSP00000283303:S261N	S	+	2	0	GPR115	47789722	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.254000	0.08781	-0.597000	0.05813	0.655000	0.94253	AGC	0	NULL		0.408	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	protein_coding	OTTHUMT00000040819.2	61	164	0	0.00	0	0	G	NM_153838	0	0		47681763	1	no_errors	ENST00000371220	ensembl	human	known	74_37	missense	21	137	22.22	25.41	6	47	SNP	0	A	A	47681763	G	A	47681763	3	1	97	1	0	0	0	0	1	0	0	0	6632	971	34	3	800	3	GPR115	6	47681763	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1021613	47681763	123433304	265	1464											
PAQR8	85315	genome.wustl.edu	37	chr6	52268691	52268691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcctagacatcagccCtgtggcacaccgtgtggcgc	7	11	10	13	2	1	1	1	0	0	1	2	1	2	1	3	2	1	1	3	2	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:52268691C>A	ENST00000442253.2	+	2	854	c.680C>A	c.(679-681)cCt>cAt	p.P227H	PAQR8_ENST00000360726.3_Missense_Mutation_p.P227H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	227					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GACATCAGCCCTGTGGCACAC	0.547																																							0											0													82	81	81					6																	52268691		2203	4300	6503	SO:0001583	missense	0			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.680C>A	6.37:g.52268691C>A	ENSP00000406197:p.Pro227His		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	pfam_HlyIII-related,superfamily_C-type_lectin_fold	p.P227H	ENST00000442253.2	37	c.680	CCDS4941.1	6	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322369	0.81580	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.35605	1.3;1.3	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70193	-0.4939	9	.	.	.	-17.9512	18.4725	0.90779	0.0:1.0:0.0:0.0	.	227	Q8TEZ7	MPRB_HUMAN	H	227	ENSP00000406197:P227H;ENSP00000353953:P227H	.	P	+	2	0	PAQR8	52376650	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.487000	0.81328	2.610000	0.88304	0.655000	0.94253	CCT	0	pfam_HlyIII-related		0.547	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR8	protein_coding	OTTHUMT00000040903.2	18	160	0	0.62	0	1	C	NM_133367	0	0		52268691	1	no_errors	ENST00000360726	ensembl	human	known	74_37	missense	8	147	46.67	24.23	7	47	SNP	1	A	A	52268691	C	A	52268691	3	1	97	1	0	0	0	0	1	0	0	0	11441	681	24	5	682	5	PAQR8	6	52268691	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	4586928	52268691	118846376	266	1465											
ICK	22858	genome.wustl.edu	37	chr6	52870048	52870048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgcttctaggctgggTgtggaagaatggtcgcccag	8	9	17	7	1	1	1	0	0	1	1	2	3	1	3	1	5	1	2	1	5	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:52870048T>C	ENST00000350082.5	-	14	2144	c.1798A>G	c.(1798-1800)Acc>Gcc	p.T600A	ICK_ENST00000356971.3_Missense_Mutation_p.T600A	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	600					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CTAGGCTGGGTGTGGAAGAAT	0.572																																							0											0													83	86	85					6																	52870048		2203	4300	6503	SO:0001583	missense	0			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1798A>G	6.37:g.52870048T>C	ENSP00000263043:p.Thr600Ala		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	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.T600A	ENST00000350082.5	37	c.1798	CCDS4949.1	6	.	.	.	.	.	.	.	.	.	.	T	10.47	1.357909	0.24598	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.71698	-0.59;-0.59	6.11	6.11	0.99139	.	0.256125	0.39210	N	0.001421	T	0.28466	0.0704	N	0.11427	0.14	0.29793	N	0.83303	B	0.06786	0.001	B	0.06405	0.002	T	0.04454	-1.0950	10	0.12103	T	0.63	-11.2672	10.984	0.47513	0.1391:0.0:0.0:0.8609	.	600	Q9UPZ9	ICK_HUMAN	A	600	ENSP00000263043:T600A;ENSP00000349458:T600A	ENSP00000263043:T600A	T	-	1	0	ICK	52978007	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	2.524000	0.45589	2.343000	0.79666	0.533000	0.62120	ACC	0	NULL		0.572	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	protein_coding	OTTHUMT00000040952.1	20	115	0	0.00	0	0	T	NM_016513	0	0		52870048	-1	no_errors	ENST00000350082	ensembl	human	known	74_37	missense	17	104	29.17	26.06	7	37	SNP	1	C	C	52870048	T	C	52870048	3	2	97	1	0	0	0	0	1	0	0	0	7484	1696	59	3	104	3	ICK	6	52870048	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	601357	52870048	118245019	267	1466											
PHF3	23469	genome.wustl.edu	37	chr6	64395254	64395254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaaaattttcataggcCagtcaaagtcagaaaaaaac	19	8	6	8	0	4	1	4	0	0	1	4	1	4	1	1	1	2	1	1	1	7	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:64395254C>T	ENST00000262043.3	+	4	1971	c.1631C>T	c.(1630-1632)cCa>cTa	p.P544L	PHF3_ENST00000393387.1_Missense_Mutation_p.P544L|PHF3_ENST00000509330.1_Missense_Mutation_p.P544L			Q92576	PHF3_HUMAN	PHD finger protein 3	544					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)			TTTCATAGGCCAGTCAAAGTC	0.343																																					GBM(135;136 1820 29512 34071 46235)		0											0													53	56	55					6																	64395254		2203	4298	6501	SO:0001583	missense	0			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.1631C>T	6.37:g.64395254C>T	ENSP00000262043:p.Pro544Leu		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.P544L	ENST00000262043.3	37	c.1631	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162357	0.38217	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.56444	1.62;1.28;1.83;1.37;0.46;1.83	5.82	5.82	0.92795	.	0.218999	0.23510	N	0.047416	T	0.62245	0.2412	M	0.64997	1.995	0.51012	D	0.999903	D;D	0.63046	0.974;0.992	P;D	0.64410	0.66;0.925	T	0.64918	-0.6294	10	0.87932	D	0	-6.6805	14.8823	0.70542	0.1434:0.8566:0.0:0.0	.	544;544	Q92576;D6R9X2	PHF3_HUMAN;.	L	358;456;544;497;544;544	ENSP00000424694:P358L;ENSP00000425227:P456L;ENSP00000262043:P544L;ENSP00000424078:P497L;ENSP00000422841:P544L;ENSP00000377048:P544L	ENSP00000262043:P544L	P	+	2	0	PHF3	64453213	0.996000	0.38824	1.000000	0.80357	0.958000	0.62258	2.790000	0.47821	2.753000	0.94483	0.467000	0.42956	CCA	0	NULL		0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	protein_coding	OTTHUMT00000041086.2	85	268	0	0.00	0	0	C		0	0		64395254	1	no_errors	ENST00000262043	ensembl	human	known	74_37	missense	40	225	39.39	27.18	26	84	SNP	1	T	T	64395254	C	T	64395254	3	4	97	1	0	0	0	0	1	0	0	0	11836	594	21	3	1641	3	PHF3	6	64395254	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	11525206	64395254	106719813	268	1467											
COL9A1	1297	genome.wustl.edu	37	chr6	70961829	70961829	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaggaatactcacaggaagCccctggggtcctcggggtcc	9	6	13	13	1	1	0	1	0	0	0	4	2	3	2	4	6	2	0	4	6	4	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:70961829C>A	ENST00000357250.6	-	28	2024	c.1866G>T	c.(1864-1866)ggG>ggT	p.G622G	COL9A1_ENST00000370499.4_Silent_p.G379G|COL9A1_ENST00000320755.7_Silent_p.G379G|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	622	Collagen-like 6.|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						TCACAGGAAGCCCCTGGGGTC	0.488																																							0											0													108	121	116					6																	70961829		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1866G>T	6.37:g.70961829C>A			Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G622	ENST00000357250.6	37	c.1866	CCDS4971.1	6																																																																																			0	pfam_Collagen		0.488	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	protein_coding	OTTHUMT00000041131.2	55	164	0	0.00	0	0	C		0	0		70961829	-1	no_errors	ENST00000357250	ensembl	human	known	74_37	silent	38	144	24	27.64	12	55	SNP	0.007	A	A	70961829	C	A	70961829	2	1	97	1	0	0	0	0	0	0	0	1	3707	726	26	5		5	COL9A1	6	70961829	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	6566575	70961829	100153238	269	1468											
KHDC1	80759	genome.wustl.edu	37	chr6	73951945	73951946	+	Frame_Shift_Del	DEL	TA	TA	-																															gcacctcaatgcagcgaaggTatgtgtcaccatgccctgtg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TA	TA	TA	-	TA	TA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:73951945_73951946delTA	ENST00000370384.3	-	4	846_847	c.346_347delTA	c.(346-348)tacfs	p.Y116fs	KHDC1_ENST00000257765.5_Frame_Shift_Del_p.Y43fs|RP11-257K9.8_ENST00000423730.3_Frame_Shift_Del_p.Y43fs	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	116	KH; atypical.					integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						GCAGCGAAGGTATGTGTCACCA	0.545																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"chromosome 6 open reading frame 148"	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.346_347delTA	6.37:g.73951945_73951946delTA	ENSP00000359411:p.Tyr116fs		Q5JSQ7|Q8WTV2|Q96NQ5	Frame_Shift_Del	DEL	NULL	p.Y43fs	ENST00000370384.3	37	c.128_127	CCDS59027.1	6																																																																																			0	NULL		0.545	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000243501	protein_coding	OTTHUMT00000148103.2	31	71	0	0.00	0	0	TA	NM_030568	0	0		73951946	-1	no_errors	ENST00000423730	ensembl	human	known	74_37	frame_shift_del	21	53	22.22	29.33	6	22	DEL	0.020:0.004	0	-	73951946	TA	-	73951945	7	5	97	1	0	1	0	1	0	0	0	0	8144	1638	57	0	374	0	KHDC1	6	73951945	Frame_Shift_Del	DEL	TA	TCGA-ZB-A966-01A-11D-A428-09	2990116	73951945	97163122	270	1469											
EEF1A1	1915	genome.wustl.edu	37	chr6	74227621	74227621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttgatgacacccaccGcaactgtctgtctcatatca	9	12	6	14	1	3	2	2	2	2	0	4	2	3	2	2	0	2	2	2	0	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:74227621G>A	ENST00000316292.9	-	7	2292	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	EEF1A1_ENST00000309268.6_Missense_Mutation_p.A434V|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A434V|EEF1A1_ENST00000491404.1_Intron	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						GACACCCACCGCAACTGTCTG	0.413											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											0											0													37	39	39					6																	74227621		2203	4300	6503	SO:0001583	missense	0			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.1301C>T	6.37:g.74227621G>A	ENSP00000339063:p.Ala434Val	1151	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.A434V	ENST00000316292.9	37	c.1301	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988280	0.53934	.	.	ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.55588	0.51;0.51;0.51	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	0.62048	0.2396	H	0.97240	3.965	0.80722	D	1	B;B;B	0.25312	0.123;0.123;0.123	B;B;B	0.21917	0.037;0.037;0.037	T	0.72811	-0.4180	10	0.72032	D	0.01	.	18.3119	0.90203	0.0:0.0:1.0:0.0	.	434;434;434	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	V	434;434;434;413	ENSP00000339063:A434V;ENSP00000339053:A434V;ENSP00000330054:A434V	ENSP00000339053:A434V	A	-	2	0	EEF1A1	74284342	1.000000	0.71417	0.999000	0.59377	0.611000	0.37282	9.328000	0.96403	2.381000	0.81170	0.556000	0.70494	GCG	0	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	77	91	0	0.00	0	0	G	NM_001402	0	0		74227621	-1	no_errors	ENST00000309268	ensembl	human	known	74_37	missense	49	71	24.24	38.98	16	46	SNP	1	A	A	74227621	G	A	74227621	3	1	97	1	0	0	0	0	1	0	0	0	4923	1087	38	1	91	1	EEF1A1	6	74227621	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	275676	74227621	96887446	271	1470											
EEF1A1	1915	genome.wustl.edu	37	chr6	74228114	74228114	+	Frame_Shift_Del	DEL	T	T	-																															ctgcttccattggtgggtcaTttttgctgtcaccagcaacg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:74228114delT	ENST00000316292.9	-	5	1983	c.992delA	c.(991-993)aatfs	p.N331fs	EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.N331fs|EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.N331fs|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	331					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						TGGTGGGTCATTTTTGCTGTC	0.443											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											0											0													67	66	67					6																	74228114		2187	4285	6472	SO:0001589	frameshift_variant	0			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.992delA	6.37:g.74228114delT	ENSP00000339063:p.Asn331fs	1151	P04719|P04720|Q6IQ15	Frame_Shift_Del	DEL	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.N331fs	ENST00000316292.9	37	c.992	CCDS4980.1	6																																																																																			0	superfamily_Transl_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc		0.443	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	protein_coding	OTTHUMT00000041210.2	80	40	0	0.00	0	0	T	NM_001402	0	0		74228114	-1	no_errors	ENST00000309268	ensembl	human	known	74_37	frame_shift_del	42	33	30	15.38	18	6	DEL	1	0	-	74228114	T	-	74228114	7	5	97	1	0	1	0	1	0	0	0	0	4923	1493	52	0	408	0	EEF1A1	6	74228114	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	493	74228114	96886953	272	1471											
MYO6	4646	genome.wustl.edu	37	chr6	76599858	76599858	+	Frame_Shift_Del	DEL	A	A	-																															aactcctcagtgcattacagAaaaaaaaacagcaggaagag																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:76599858delA	ENST00000369977.3	+	26	2882	c.2743delA	c.(2743-2745)aaafs	p.K917fs	MYO6_ENST00000369985.4_Frame_Shift_Del_p.K917fs|MYO6_ENST00000369981.3_Frame_Shift_Del_p.K917fs|MYO6_ENST00000369975.1_Frame_Shift_Del_p.K917fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	917					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)	p.K917fs*10(1)		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)		TGCATTACAGAAAAAAAAACA	0.383																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											82	88	86					6																	76599858		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2743delA	6.37:g.76599858delA	ENSP00000358994:p.Lys917fs		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.K917fs	ENST00000369977.3	37	c.2743	CCDS34487.1	6																																																																																			0	NULL		0.383	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	protein_coding	OTTHUMT00000041279.2	63	172	0	0.00	0	0	A	NM_004999	0	0		76599858	1	no_errors	ENST00000369981	ensembl	human	known	74_37	frame_shift_del	42	135	26.32	21.05	15	36	DEL	1	0	-	76599858	A	-	76599858	7	5	97	1	0	1	0	1	0	0	0	0	10081	247	9	0	2841	0	MYO6	6	76599858	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	2371744	76599858	94515209	273	1472											
PHIP	55023	genome.wustl.edu	37	chr6	79770441	79770441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaataaagtttgtactccaGgaacactttgaggaatttct	13	14	7	7	0	1	1	0	1	1	0	2	3	2	3	1	2	2	2	1	2	6	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:79770441G>T	ENST00000275034.4	-	5	451	c.284C>A	c.(283-285)cCt>cAt	p.P95H		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	95					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)		TTGTACTCCAGGAACACTTTG	0.353																																							0											0													77	81	79					6																	79770441		2203	4300	6503	SO:0001583	missense	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.284C>A	6.37:g.79770441G>T	ENSP00000275034:p.Pro95His		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.P95H	ENST00000275034.4	37	c.284	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520142	0.85495	.	.	ENSG00000146247	ENST00000275034	T	0.56941	0.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64042	0.921;0.921	T	0.59606	-0.7423	9	.	.	.	-9.2643	18.8868	0.92381	0.0:0.0:1.0:0.0	.	95;95	A7J992;Q8WWQ0	.;PHIP_HUMAN	H	95	ENSP00000275034:P95H	.	P	-	2	0	PHIP	79827160	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.230000	0.95299	2.715000	0.92844	0.491000	0.48974	CCT	0	NULL		0.353	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	protein_coding	OTTHUMT00000041297.2	86	315	0	0.00	0	0	G		0	0		79770441	-1	no_errors	ENST00000275034	ensembl	human	known	74_37	missense	37	250	28.85	30.94	15	112	SNP	1	T	T	79770441	G	T	79770441	3	4	97	1	0	0	0	0	1	0	0	0	11842	1000	35	5	5325	5	PHIP	6	79770441	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3170583	79770441	91344626	274	1473											
ZNF292	23036	genome.wustl.edu	37	chr6	87967203	87967204	+	Frame_Shift_Ins	INS	-	-	T																															agatagtgggactaattctgINSttttttcccaactggaaaat																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:87967203_87967204insT	ENST00000369577.3	+	8	3899_3900	c.3856_3857insT	c.(3856-3858)gttfs	p.V1286fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.V1281fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1286						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)		GACTAATTCTGTTTTTTCCCAA	0.386																																							0											0																																										SO:0001589	frameshift_variant	0			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.3862dupT	6.37:g.87967209_87967209dupT	ENSP00000358590:p.Val1286fs		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1288fs	ENST00000369577.3	37	c.3856_3857	CCDS47457.1	6																																																																																			0	NULL		0.386	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	protein_coding	OTTHUMT00000376192.2	61	279	0	0.00	0	0	0	NM_015021	0	0		87967204	1	no_errors	ENST00000369577	ensembl	human	known	74_37	frame_shift_ins	46	202	31.34	25.74	21	70	INS	1.000:1.000	T	T	87967204	-	T	87967203	7	5	97	1	0	1	1	0	0	0	0	0	17823	1377	48	0	3886	0	ZNF292	6	87967203	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	8196762	87967203	83147864	275	1474											
ORC3L	23595	genome.wustl.edu	37	chr6	88318838	88318838	+	Frame_Shift_Del	DEL	A	A	-																															cggacccaaaaatgctaagcAaaaaaaggactacttctagc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:88318838delA	ENST00000392844.3	+	7	652	c.604delA	c.(604-606)aaafs	p.K203fs	ORC3_ENST00000417380.2_Frame_Shift_Del_p.K150fs|ORC3_ENST00000257789.4_Frame_Shift_Del_p.K203fs|ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000546266.1_Frame_Shift_Del_p.K60fs	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	203					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AATGCTAAGCAAAAAAAGGAC	0.383																																							0											0													111	105	107					6																	88318838		2203	4300	6503	SO:0001589	frameshift_variant	0			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.604delA	6.37:g.88318838delA	ENSP00000376586:p.Lys203fs		A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Frame_Shift_Del	DEL	pfam_ORC3	p.R204fs	ENST00000392844.3	37	c.604	CCDS43486.1	6																																																																																			0	pfam_ORC3		0.383	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	protein_coding	OTTHUMT00000041452.2	136	274	0	0.36	0	1	A		0	0		88318838	1	no_errors	ENST00000257789	ensembl	human	known	74_37	frame_shift_del	94	242	28.79	25.99	38	85	DEL	1	0	-	88318838	A	-	88318838	7	5	97	1	0	1	0	1	0	0	0	0	11263	131	5	0	630	0	ORC3L	6	88318838	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	351635	88318838	82796229	276	1475											
GABRR1	2569	genome.wustl.edu	37	chr6	89890146	89890146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccttgatgtaggagacGcgcggcatggaggcattcac	9	7	15	10	4	1	2	1	1	0	1	1	4	1	3	1	5	0	3	1	5	1	3	rs185458142		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:89890146G>A	ENST00000454853.2	-	9	1121	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	GABRR1_ENST00000369451.3_Silent_p.R250R|GABRR1_ENST00000435811.1_Silent_p.R320R	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	337					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)	TGTAGGAGACGCGCGGCATGG	0.537													G|||	1	0.000199681	0	0	5008	,	,		22900	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0													157	126	136					6																	89890146		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1011C>T	6.37:g.89890146G>A			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.R337	ENST00000454853.2	37	c.1011	CCDS5019.2	6																																																																																			0	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.537	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	protein_coding	OTTHUMT00000041479.2	27	45	0	0.00	0	0	G		rs185458142	G->A		89890146	-1	no_errors	ENST00000454853	ensembl	human	known	74_37	silent	19	41	29.63	29.31	8	17	SNP	0.019	A	A	89890146	G	A	89890146	2	1	97	1	0	0	0	0	0	0	0	1	6176	1074	38	1		1	GABRR1	6	89890146	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1571308	89890146	81224921	277	1476											
MDN1	23195	genome.wustl.edu	37	chr6	90359895	90359895	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactttccgtatgtttagtcGtttcccagttcgatagtctc	6	17	8	10	3	1	0	0	0	1	0	6	2	3	0	2	0	0	4	2	0	3	7			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:90359895G>A	ENST00000369393.3	-	97	16169	c.16054C>T	c.(16054-16056)Cga>Tga	p.R5352*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.R5352*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5352					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)		ATGTTTAGTCGTTTCCCAGTT	0.363																																							0											0													104	88	93					6																	90359895		2203	4300	6503	SO:0001587	stop_gained	0			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.16054C>T	6.37:g.90359895G>A	ENSP00000358400:p.Arg5352*		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.R5352*	ENST00000369393.3	37	c.16054	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	56	26.166330	0.99968	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.86	4.06	0.47325	.	0.077413	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9778	0.41795	0.0:0.1111:0.4715:0.4175	.	.	.	.	X	5352	.	ENSP00000358400:R5352X	R	-	1	2	MDN1	90416616	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.892000	0.69790	0.796000	0.33947	-0.309000	0.09137	CGA	0	pirsf_Midasin		0.363	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	74	294	0	0.34	0	1	G		0	0		90359895	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	nonsense	42	223	25	29.21	14	92	SNP	0.999	A	A	90359895	G	A	90359895	4	1	97	1	0	0	0	0	0	1	0	0	9415	1153	40	1	760	1	MDN1	6	90359895	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	469749	90359895	80755172	278	1477											
SIM1	6492	genome.wustl.edu	37	chr6	100896539	100896539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggatcttcaagtagcCgctgcagtggatgacctgag	8	9	14	10	2	2	2	1	2	1	0	2	4	2	4	2	3	2	3	2	3	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:100896539C>T	ENST00000369208.3	-	7	1341	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	SIM1_ENST00000262901.4_Missense_Mutation_p.G187S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	187					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)		TTCAAGTAGCCGCTGCAGTGG	0.597																																							0											0													34	37	36					6																	100896539		2203	4300	6503	SO:0001583	missense	0			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.559G>A	6.37:g.100896539C>T	ENSP00000358210:p.Gly187Ser		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.G187S	ENST00000369208.3	37	c.559	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.678783	0.96764	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.74737	-0.87;-0.87	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.90099	0.6907	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92507	0.6013	10	0.87932	D	0	.	19.5581	0.95361	0.0:1.0:0.0:0.0	.	187	P81133	SIM1_HUMAN	S	187	ENSP00000358210:G187S;ENSP00000262901:G187S	ENSP00000262901:G187S	G	-	1	0	SIM1	101003260	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.802000	0.85969	2.614000	0.88457	0.655000	0.94253	GGC	0	superfamily_PAS		0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	protein_coding	OTTHUMT00000041628.3	54	76	0	0.00	0	0	C	NM_005068	0	0		100896539	-1	no_errors	ENST00000262901	ensembl	human	known	74_37	missense	25	88	24.24	22.81	8	26	SNP	1	T	T	100896539	C	T	100896539	3	4	97	1	0	0	0	0	1	0	0	0	14323	652	23	2	1765	2	SIM1	6	100896539	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	10536644	100896539	70218528	279	1478											
RNF146	81847	genome.wustl.edu	37	chr6	127608197	127608197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggctttctgtatgtcGctgatcttgaaaacatggtt	7	17	10	7	1	2	2	0	2	2	0	3	2	2	2	0	2	2	5	0	2	3	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:127608197G>A	ENST00000368314.1	+	3	863	c.439G>A	c.(439-441)Gct>Act	p.A147T	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.A147T|RNF146_ENST00000309649.3_Missense_Mutation_p.A146T|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000608991.1_Missense_Mutation_p.A146T	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	147	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		TCTGTATGTCGCTGATCTTGA	0.413																																							0											0													77	72	74					6																	127608197		2203	4300	6503	SO:0001583	missense	0			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.439G>A	6.37:g.127608197G>A	ENSP00000357297:p.Ala147Thr		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.A147T	ENST00000368314.1	37	c.439	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322932	0.81580	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.41758	0.99;0.99;0.99	5.8	5.8	0.92144	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.51490	-0.8699	10	0.56958	D	0.05	-17.2677	20.0734	0.97734	0.0:0.0:1.0:0.0	.	147	Q9NTX7	RN146_HUMAN	T	147;146;146	ENSP00000357297:A147T;ENSP00000349253:A146T;ENSP00000309365:A146T	ENSP00000309365:A146T	A	+	1	0	RNF146	127649890	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.550000	0.98110	2.748000	0.94277	0.655000	0.94253	GCT	0	pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom		0.413	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	protein_coding	OTTHUMT00000042112.1	42	202	0	0.00	0	0	G	NM_030963	0	0		127608197	1	no_errors	ENST00000368314	ensembl	human	known	74_37	missense	29	157	30.95	27.40	13	60	SNP	1	A	A	127608197	G	A	127608197	3	1	97	1	0	0	0	0	1	0	0	0	13448	1087	38	1	438	1	RNF146	6	127608197	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	26711658	127608197	43506870	280	1479											
L3MBTL3	84456	genome.wustl.edu	37	chr6	130425719	130425719	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcttcccctgaaatcAggtaatcaaagagctaatat	13	12	6	10	0	4	2	2	1	2	1	5	2	5	2	2	1	1	3	2	1	5	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:130425719A>G	ENST00000529410.1	+	21	2364	c.1885A>G	c.(1885-1887)Aga>Gga	p.R629G	L3MBTL3_ENST00000361794.2_Splice_Site_p.R629G|L3MBTL3_ENST00000368139.2_Splice_Site_p.R604G|L3MBTL3_ENST00000368136.2_Splice_Site_p.R629G|L3MBTL3_ENST00000533560.1_Splice_Site_p.R604G|L3MBTL3_ENST00000526019.1_Splice_Site_p.R604G			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	629					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)		CCCTGAAATCAGGTAATCAAA	0.343																																							0											0													79	82	81					6																	130425719		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1886+1A>G	6.37:g.130425719A>G			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.R629G	ENST00000529410.1	37	c.1885	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464834	0.26335	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47	6.17	5.01	0.66863	.	0.671122	0.16406	N	0.215837	T	0.07413	0.0187	L	0.43152	1.355	0.35802	D	0.823208	B;B	0.19200	0.034;0.001	B;B	0.21917	0.037;0.004	T	0.08046	-1.0741	10	0.36615	T	0.2	.	11.7291	0.51726	0.8524:0.1476:0.0:0.0	.	604;629	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	G	629;604;629;604;604;629	ENSP00000431962:R629G;ENSP00000437185:R604G;ENSP00000354526:R629G;ENSP00000357121:R604G;ENSP00000436706:R604G;ENSP00000357118:R629G	ENSP00000354526:R629G	R	+	1	2	L3MBTL3	130467412	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	3.118000	0.50414	1.153000	0.42468	-0.264000	0.10439	AGA	0	NULL		0.343	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	protein_coding	OTTHUMT00000042195.2	125	284	0	0.00	0	0	A	XM_027074	0	0	Missense_Mutation	130425719	1	no_errors	ENST00000361794	ensembl	human	known	74_37	missense	79	205	18.56	29.45	18	86	SNP	1	G	G	130425719	A	G	130425719	5	3	97	1	0	0	0	0	0	0	1	0	8593	202	7	4	1951	4	L3MBTL3	6	130425719	Splice_Site	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	2817522	130425719	40689348	281	1480											
PDE7B	27115	genome.wustl.edu	37	chr6	136475266	136475266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtatcacaatgctgttcacGcagccgacgtcacccaggcc	9	7	9	16	4	3	0	3	0	0	0	3	1	3	0	3	1	2	4	3	1	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:136475266G>A	ENST00000308191.6	+	7	835	c.532G>A	c.(532-534)Gca>Aca	p.A178T	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	178	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)	TGCTGTTCACGCAGCCGACGT	0.488																																							0											0													116	92	100					6																	136475266		2203	4300	6503	SO:0001583	missense	0			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.532G>A	6.37:g.136475266G>A	ENSP00000310661:p.Ala178Thr		Q5W154	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.A178T	ENST00000308191.6	37	c.532	CCDS5175.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.704570|4.704570	0.88924|0.88924	.|.	.|.	ENSG00000171408|ENSG00000171408	ENST00000308191;ENST00000367787|ENST00000446774	D|.	0.89050|.	-2.46|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86990|0.86990	0.6066|0.6066	H|H	0.95780|0.95780	3.72|3.72	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	0.89925|0.89925	0.4062|0.4062	10|5	0.87932|.	D|.	0|.	.|.	20.0706|20.0706	0.97721|0.97721	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	230;178|.	A1E5M1;Q9NP56|.	.;PDE7B_HUMAN|.	T|H	178;314|72	ENSP00000310661:A178T|.	ENSP00000310661:A178T|.	A|R	+|+	1|2	0|0	PDE7B|PDE7B	136516959|136516959	1.000000|1.000000	0.71417|0.71417	0.403000|0.403000	0.26384|0.26384	0.451000|0.451000	0.32288|0.32288	9.754000|9.754000	0.98908|0.98908	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	GCA|CGC	0	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.488	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7B	protein_coding	OTTHUMT00000042371.1	48	165	0	0.60	0	1	G		0	0		136475266	1	no_errors	ENST00000308191	ensembl	human	known	74_37	missense	28	127	28.21	30.22	11	55	SNP	1	A	A	136475266	G	A	136475266	3	1	97	1	0	0	0	0	1	0	0	0	11652	1087	38	1	558	1	PDE7B	6	136475266	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	6049547	136475266	34639801	282	1481											
MAP3K5	4217	genome.wustl.edu	37	chr6	136934282	136934282	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcccggtgaactatctgAttgtcatggagatattttaa	11	15	9	6	1	2	3	1	2	1	1	3	4	3	3	1	2	1	0	1	2	4	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:136934282A>G	ENST00000359015.4	-	17	2751	c.2391T>C	c.(2389-2391)aaT>aaC	p.N797N	MAP3K5_ENST00000355845.4_Silent_p.N44N	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	797	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)		GAACTATCTGATTGTCATGGA	0.363																																							0											0													162	151	155					6																	136934282		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2391T>C	6.37:g.136934282A>G			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.N797	ENST00000359015.4	37	c.2391	CCDS5179.1	6																																																																																			0	pfam_Prot_kinase_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		0.363	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	protein_coding	OTTHUMT00000042383.1	118	243	0	0.41	0	1	A		0	0		136934282	-1	no_errors	ENST00000359015	ensembl	human	known	74_37	silent	77	255	24.51	27.07	25	95	SNP	1	G	G	136934282	A	G	136934282	2	3	97	1	0	0	0	0	0	0	0	1	9253	330	12	3		3	MAP3K5	6	136934282	Silent	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	459016	136934282	34180785	283	1482											
HIVEP2	3097	genome.wustl.edu	37	chr6	143092794	143092794	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctgatgagcagcgtcGcatctctttctggtggtgat	5	14	12	10	2	3	3	0	3	3	0	5	3	3	3	0	2	3	3	0	2	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:143092794G>A	ENST00000367604.1	-	4	3721	c.3082C>T	c.(3082-3084)Cga>Tga	p.R1028*	HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.R1028*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.R1028*			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1028					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.R1028*(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)		GAGCAGCGTCGCATCTCTTTC	0.507																																					Esophageal Squamous(107;843 1510 13293 16805 42198)		0											1	Substitution - Nonsense(1)	central_nervous_system(1)											71	72	72					6																	143092794		2016	4190	6206	SO:0001587	stop_gained	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3082C>T	6.37:g.143092794G>A	ENSP00000356576:p.Arg1028*		Q02646|Q5THT5|Q9NS05	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1028*	ENST00000367604.1	37	c.3082	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	G	47	13.315653	0.99734	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	.	.	.	5.56	2.4	0.29515	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.65	14.061	0.64800	0.0:0.0:0.4564:0.5436	.	.	.	.	X	1028	.	ENSP00000012134:R1028X	R	-	1	2	HIVEP2	143134487	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	2.035000	0.41155	0.674000	0.31244	0.655000	0.94253	CGA	0	NULL		0.507	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	protein_coding	OTTHUMT00000042495.1	16	114	0	0.00	0	0	G		0	0		143092794	-1	no_errors	ENST00000012134	ensembl	human	known	74_37	nonsense	19	71	38.71	27.55	12	27	SNP	1	A	A	143092794	G	A	143092794	4	1	97	1	0	0	0	0	0	1	0	0	7187	1095	38	1	4282	1	HIVEP2	6	143092794	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	6158512	143092794	28022273	284	1483											
NUP43	348995	genome.wustl.edu	37	chr6	150063622	150063622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttgttgcacacaacacCtgtacatggtgcactgctat	9	12	10	10	0	0	0	0	0	0	0	0	0	0	0	1	2	5	6	1	2	3	4	rs147466189		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:150063622C>A	ENST00000340413.2	-	4	482	c.406G>T	c.(406-408)Ggt>Tgt	p.G136C	NUP43_ENST00000367403.3_Missense_Mutation_p.G197C|NUP43_ENST00000463048.3_5'Flank|NUP43_ENST00000367404.4_Missense_Mutation_p.G136C|NUP43_ENST00000460354.2_Missense_Mutation_p.G136C	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	136					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CACACAACACCTGTACATGGT	0.478																																							0											0													213	190	198					6																	150063622		2203	4300	6503	SO:0001583	missense	0			AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"WD repeat domain containing"	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.406G>T	6.37:g.150063622C>A	ENSP00000342262:p.Gly136Cys		B4E2F0|Q9H8S0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G136C	ENST00000340413.2	37	c.406	CCDS5218.1	6	.	.	.	.	.	.	.	.	.	.	C	17.81	3.479820	0.63849	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	T;T;T;T;T	0.69561	0.03;0.03;-0.41;-0.41;-0.41	5.27	3.45	0.39498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.206086	0.50627	D	0.000115	T	0.70509	0.3232	M	0.71581	2.175	0.49130	D	0.999759	D;B	0.71674	0.998;0.44	P;B	0.60789	0.879;0.08	T	0.71481	-0.4580	10	0.48119	T	0.1	-23.7619	12.1529	0.54059	0.0:0.8741:0.0:0.1259	.	136;136	B4E2F0;Q8NFH3	.;NUP43_HUMAN	C	136;136;197;136;143	ENSP00000342262:G136C;ENSP00000432401:G136C;ENSP00000356373:G197C;ENSP00000356374:G136C;ENSP00000438031:G143C	ENSP00000342262:G136C	G	-	1	0	NUP43	150105315	0.985000	0.35326	0.875000	0.34327	0.972000	0.66771	3.622000	0.54217	2.466000	0.83321	0.650000	0.86243	GGT	0	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.478	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP43	protein_coding	OTTHUMT00000396947.1	66	226	0	0.00	0	0	C	NM_198887	0	0		150063622	-1	no_errors	ENST00000340413	ensembl	human	known	74_37	missense	27	195	32.5	24.71	13	64	SNP	0.766	A	A	150063622	C	A	150063622	3	1	97	1	0	0	0	0	1	0	0	0	10765	681	24	5	756	5	NUP43	6	150063622	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	6970828	150063622	21051445	285	1484											
PHF10	55274	genome.wustl.edu	37	chr6	170117990	170117990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccttgtgagacaaatctCgtcgctctaaatctccaaaa	12	12	5	12	2	4	1	0	1	4	1	8	2	4	1	2	0	0	1	2	0	5	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:170117990C>T	ENST00000339209.4	-	4	461	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	PHF10_ENST00000366780.4_Missense_Mutation_p.R111Q|PHF10_ENST00000464779.1_5'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	113	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)		AGACAAATCTCGTCGCTCTAA	0.318																																							0											0													40	37	38					6																	170117990		2202	4298	6500	SO:0001583	missense	0			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.338G>A	6.37:g.170117990C>T	ENSP00000341805:p.Arg113Gln		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R113Q	ENST00000339209.4	37	c.338	CCDS5308.2	6	.	.	.	.	.	.	.	.	.	.	C	36	5.599208	0.96614	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.29917	1.55;1.55	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.82716	2.605	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.77557	0.99;0.782	T	0.59348	-0.7471	10	0.87932	D	0	-15.2261	19.3504	0.94381	0.0:1.0:0.0:0.0	.	111;113	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	Q	111;113	ENSP00000355743:R111Q;ENSP00000341805:R113Q	ENSP00000341805:R113Q	R	-	2	0	PHF10	169859915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.177000	0.77650	2.885000	0.99019	0.655000	0.94253	CGA	0	NULL		0.318	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF10	protein_coding	OTTHUMT00000346732.1	66	280	0	0.00	0	0	C	NM_018288	0	0		170117990	-1	no_errors	ENST00000339209	ensembl	human	known	74_37	missense	49	206	32.88	29.21	24	85	SNP	1	T	T	170117990	C	T	170117990	3	4	97	1	0	0	0	0	1	0	0	0	11821	884	31	2	1194	2	PHF10	6	170117990	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	20054368	170117990	997077	286	1485											
C7orf50	84310	genome.wustl.edu	37	chr7	1166957	1166957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggcccctctgctgacGccttcttcagctttttgttc	3	15	9	14	1	3	1	1	1	2	0	4	1	3	1	3	1	2	4	3	1	0	5	rs190705576		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:1166957G>A	ENST00000397098.3	-	2	991	c.65C>T	c.(64-66)gCg>gTg	p.A22V	C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000397100.2_Missense_Mutation_p.A22V|C7orf50_ENST00000357429.6_Missense_Mutation_p.A22V			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	22							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CTCTGCTGACGCCTTCTTCAG	0.537																																							0											0													67	58	61					7																	1166957		2203	4300	6503	SO:0001583	missense	0			BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.65C>T	7.37:g.1166957G>A	ENSP00000380286:p.Ala22Val			Missense_Mutation	SNP	pfam_DUF2373	p.A22V	ENST00000397098.3	37	c.65	CCDS5320.1	7	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.017	-1.511422	0.00984	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000491163	.	.	.	3.47	-1.5	0.08691	.	0.961008	0.08583	N	0.924268	T	0.13500	0.0327	N	0.02539	-0.55	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.28618	-1.0038	9	0.24483	T	0.36	-3.1129	7.4348	0.27150	0.5475:0.0:0.4525:0.0	.	22	Q9BRJ6	CG050_HUMAN	V	22	.	ENSP00000350011:A22V	A	-	2	0	C7orf50	1133483	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.727000	0.04931	-0.357000	0.08175	-0.880000	0.02959	GCG	0	NULL		0.537	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf50	protein_coding	OTTHUMT00000322817.3	43	129	0	0.00	0	0	G	NM_032350	rs190705576	G->A		1166957	-1	no_errors	ENST00000357429	ensembl	human	known	74_37	missense	24	151	27.27	25.25	9	51	SNP	0.005	A	A	1166957	G	A	1166957	3	1	97	1	0	0	0	0	1	0	0	0	2399	1087	38	1	535	1	C7orf50	7	1166957	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09		1166957	157971706	287	1486											
FOXK1	221937	genome.wustl.edu	37	chr7	4799132	4799132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccacatctgccaactcGgccaacggatacatcctcac	11	7	6	17	2	3	0	2	0	1	0	5	1	4	1	4	2	4	0	4	2	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:4799132G>A	ENST00000328914.4	+	7	1602	c.1602G>A	c.(1600-1602)tcG>tcA	p.S534S	FOXK1_ENST00000446823.1_Silent_p.S371S	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)		CTGCCAACTCGGCCAACGGAT	0.687																																							0											0													32	26	28					7																	4799132		2187	4294	6481	SO:0001819	synonymous_variant	0			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.1602G>A	7.37:g.4799132G>A				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.S534	ENST00000328914.4	37	c.1602	CCDS34591.1	7																																																																																			0	NULL		0.687	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	protein_coding	OTTHUMT00000323729.2	39	54	2.5	0.00	1	0	G		0	0		4799132	1	no_errors	ENST00000328914	ensembl	human	known	74_37	silent	22	68	26.67	23.60	8	21	SNP	0.004	A	A	4799132	G	A	4799132	2	1	97	1	0	0	0	0	0	0	0	1	6014	1103	39	2		2	FOXK1	7	4799132	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3632175	4799132	154339531	288	1487											
RADIL	55698	genome.wustl.edu	37	chr7	4856928	4856928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccacctcctccagcaccGccatggcctcctcgctggcc	5	6	8	22	2	0	0	0	0	0	0	4	0	3	0	9	2	1	3	9	2	0	0	rs369367147		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:4856928G>A	ENST00000399583.3	-	7	1857	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	RADIL_ENST00000538469.1_Missense_Mutation_p.A317V|RADIL_ENST00000536091.1_Silent_p.G503G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	557	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)		CTCCAGCACCGCCATGGCCTC	0.642																																							0											0								G	VAL/ALA	1,4403	2.1+/-5.4	0,1,2201	57	63	61		1670	5.7	1	7		61	1,8597	1.2+/-3.3	0,1,4298	no	missense	RADIL	NM_018059.4	64	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign	557/1076	4856928	2,13000	2202	4299	6501	SO:0001583	missense	0			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.1670C>T	7.37:g.4856928G>A	ENSP00000382492:p.Ala557Val		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	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.A557V	ENST00000399583.3	37	c.1670	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	g	27.4	4.827239	0.90955	2.27E-4	1.16E-4	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.42131	0.98;0.98	5.7	5.7	0.88788	Dilute (1);	0.055638	0.64402	D	0.000001	T	0.40909	0.1136	M	0.63843	1.955	0.80722	D	1	D	0.54964	0.969	B	0.36464	0.225	T	0.46898	-0.9158	10	0.46703	T	0.11	-41.4479	18.4064	0.90538	0.0:0.0:1.0:0.0	.	557	Q96JH8	RADIL_HUMAN	V	557;528;291;317	ENSP00000382492:A557V;ENSP00000442966:A317V	ENSP00000320946:A528V	A	-	2	0	RADIL	4823454	1.000000	0.71417	0.984000	0.44739	0.758000	0.43043	6.357000	0.73051	2.696000	0.92011	0.457000	0.33378	GCG	0	pfscan_Dilute		0.642	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	protein_coding	OTTHUMT00000323769.2	38	51	0	0.00	0	0	G	NM_018059	rs369367147	G->A		4856928	-1	no_errors	ENST00000399583	ensembl	human	known	74_37	missense	20	36	38.24	36.84	13	21	SNP	0.998	A	A	4856928	G	A	4856928	3	1	97	1	0	0	0	0	1	0	0	0	12997	1087	38	1	1593	1	RADIL	7	4856928	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	57796	4856928	154281735	289	1488											
AIMP2	7965	genome.wustl.edu	37	chr7	6062967	6062967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaattcagcatccagaCgatgtgccccatcgaaggcg	12	7	11	11	3	1	2	1	1	0	1	3	5	2	2	3	1	2	1	3	1	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:6062967C>T	ENST00000223029.3	+	4	727	c.608C>T	c.(607-609)aCg>aTg	p.T203M	AIMP2_ENST00000395236.2_Missense_Mutation_p.T134M|AIMP2_ENST00000400479.2_Missense_Mutation_p.T125M|EIF2AK1_ENST00000199389.6_3'UTR	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	203	Interaction with TP53.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGCATCCAGACGATGTGCCCC	0.507																																							0											0													103	97	99					7																	6062967		2203	4300	6503	SO:0001583	missense	0			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.608C>T	7.37:g.6062967C>T	ENSP00000223029:p.Thr203Met		Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like	p.T203M	ENST00000223029.3	37	c.608	CCDS5344.1	7	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855728	0.71834	.	.	ENSG00000106305	ENST00000223029;ENST00000400479;ENST00000395236	T;T;T	0.31510	1.52;1.49;1.51	5.27	1.19	0.21007	.	0.219424	0.47455	D	0.000238	T	0.37785	0.1016	L	0.57536	1.79	0.80722	D	1	D	0.59357	0.985	P	0.56916	0.809	T	0.13229	-1.0517	10	0.72032	D	0.01	-12.0898	4.4496	0.11614	0.2491:0.4078:0.2733:0.0698	.	203	Q13155	AIMP2_HUMAN	M	203;125;134	ENSP00000223029:T203M;ENSP00000383327:T125M;ENSP00000378658:T134M	ENSP00000223029:T203M	T	+	2	0	AIMP2	6029493	0.965000	0.33210	0.932000	0.37286	0.978000	0.69477	2.276000	0.43408	-0.071000	0.12886	0.555000	0.69702	ACG	0	NULL		0.507	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	protein_coding	OTTHUMT00000242834.2	77	129	0	0.00	0	0	C	NM_006303	0	0		6062967	1	no_errors	ENST00000223029	ensembl	human	known	74_37	missense	49	81	29.58	30.17	21	35	SNP	0.972	T	T	6062967	C	T	6062967	3	4	97	1	0	0	0	0	1	0	0	0	434	536	19	1	622	1	AIMP2	7	6062967	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1206039	6062967	153075696	290	1489											
HOXA10	3206	genome.wustl.edu	37	chr7	27213495	27213495	+	Frame_Shift_Del	DEL	G	G	-																															ctggctggggtggttgcggcGggggcggcggctgctgctgg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:27213495delG	ENST00000283921.4	-	1	430	c.431delC	c.(430-432)ccgfs	p.P145fs	HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron|HOXA-AS4_ENST00000519935.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'Flank	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	145	Poly-Pro.				anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	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)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TGGTTgcggcgggggcggcgg	0.706																																							0											0													6	7	7					7																	27213495		2035	4112	6147	SO:0001589	frameshift_variant	0				CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"Homeoboxes / ANTP class : HOXL subclass"	5100	protein-coding gene	gene with protein product		142957	"homeo box A10"	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.431delC	7.37:g.27213495delG	ENSP00000283921:p.Pro145fs		O43370|O43605|Q15949|Q504T1	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P144fs	ENST00000283921.4	37	c.431	CCDS5410.2	7																																																																																			0	NULL		0.706	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOXA10	protein_coding	OTTHUMT00000358724.2	18	24	0	0.00	0	0	G		0	0		27213495	-1	no_errors	ENST00000283921	ensembl	human	known	74_37	frame_shift_del	19	21	26.92	25.00	7	7	DEL	0.999	0	-	27213495	G	-	27213495	7	5	97	1	0	1	0	1	0	0	0	0	7289	1116	39	0	809	0	HOXA10	7	27213495	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	21150528	27213495	131925168	291	1490											
NOD1	10392	genome.wustl.edu	37	chr7	30492633	30492633	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacggcccagatggtgtcGcagctgctgggtatacctgc	6	9	14	12	2	1	1	1	0	0	1	2	1	1	1	2	3	4	4	2	3	2	2	rs371807148		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:30492633G>A	ENST00000222823.4	-	6	925	c.400C>T	c.(400-402)Cga>Tga	p.R134*	NOD1_ENST00000423334.2_Nonsense_Mutation_p.R134*	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	134					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						AGATGGTGTCGCAGCTGCTGG	0.587																																							0											0								G	stop/ARG	0,4406		0,0,2203	54	49	50		400	5.3	1	7		50	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	NOD1	NM_006092.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		134/954	30492633	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			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.400C>T	7.37:g.30492633G>A	ENSP00000222823:p.Arg134*		B4DTU3|Q549U4|Q8IWF5	Nonsense_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.R134*	ENST00000222823.4	37	c.400	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.302813	0.97458	0.0	1.16E-4	ENSG00000106100	ENST00000222823;ENST00000423334	.	.	.	5.31	5.31	0.75309	.	0.159248	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7367	0.51769	0.0:0.0:0.8118:0.1882	.	.	.	.	X	134	.	ENSP00000222823:R134X	R	-	1	2	NOD1	30459158	1.000000	0.71417	0.977000	0.42913	0.877000	0.50540	2.735000	0.47377	2.490000	0.84030	0.650000	0.86243	CGA	0	NULL		0.587	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	protein_coding	OTTHUMT00000250443.2	20	37	0	0.00	0	0	G		rs371807148	G->A		30492633	-1	no_errors	ENST00000222823	ensembl	human	known	74_37	nonsense	4	29	66.67	29.27	8	12	SNP	0.99	A	A	30492633	G	A	30492633	4	1	97	1	0	0	0	0	0	1	0	0	10516	1095	38	1	2497	1	NOD1	7	30492633	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3279138	30492633	128646030	292	1491											
ELMO1	9844	genome.wustl.edu	37	chr7	36934507	36934507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcatcctctcggactggCggattttcaggatctcagtg	6	13	12	10	2	4	0	3	0	2	0	7	3	5	3	1	5	0	1	1	5	0	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:36934507C>T	ENST00000310758.4	-	17	2200	c.1553G>A	c.(1552-1554)cGc>cAc	p.R518H	ELMO1_ENST00000442504.1_Missense_Mutation_p.R518H|ELMO1_ENST00000396040.2_Missense_Mutation_p.R38H|ELMO1_ENST00000396045.3_Missense_Mutation_p.R38H|ELMO1_ENST00000448602.1_Missense_Mutation_p.R518H|ELMO1_ENST00000341056.3_Missense_Mutation_p.R220H	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	518					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						CTCGGACTGGCGGATTTTCAG	0.473																																							0											0													181	163	169					7																	36934507		2203	4300	6503	SO:0001583	missense	0			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.1553G>A	7.37:g.36934507C>T	ENSP00000312185:p.Arg518His		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.R518H	ENST00000310758.4	37	c.1553	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.691810	0.96793	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.70928	0.3280	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.71108	-0.4688	10	0.52906	T	0.07	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	518	Q92556	ELMO1_HUMAN	H	220;38;518;422;38;518;518	ENSP00000342142:R220H;ENSP00000379360:R38H;ENSP00000312185:R518H;ENSP00000379355:R38H;ENSP00000406952:R518H;ENSP00000394458:R518H	ENSP00000312185:R518H	R	-	2	0	ELMO1	36901032	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.805000	0.96524	0.655000	0.94253	CGC	0	NULL		0.473	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	protein_coding	OTTHUMT00000219830.4	87	273	0	0.00	0	0	C	NM_130442	0	0		36934507	-1	no_errors	ENST00000310758	ensembl	human	known	74_37	missense	56	191	25.97	29.78	20	81	SNP	1	T	T	36934507	C	T	36934507	3	4	97	1	0	0	0	0	1	0	0	0	5065	768	27	1	654	1	ELMO1	7	36934507	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	6441874	36934507	122204156	293	1492											
GLI3	2737	genome.wustl.edu	37	chr7	42004804	42004804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaattcagctggcccccGctcccttgcatgggggtgct	5	9	12	15	2	1	0	1	0	0	0	2	1	2	0	4	3	3	4	4	3	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:42004804G>A	ENST00000395925.3	-	15	3951	c.3867C>T	c.(3865-3867)agC>agT	p.S1289S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1289					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						GCTGGCCCCCGCTCCCTTGCA	0.622									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														0											0													40	41	41					7																	42004804		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	;		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.3867C>T	7.37:g.42004804G>A			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1289	ENST00000395925.3	37	c.3867	CCDS5465.1	7																																																																																			0	NULL		0.622	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	protein_coding	OTTHUMT00000250806.3	26	70	0	0.00	0	0	G	NM_000168	0	0		42004804	-1	no_errors	ENST00000395925	ensembl	human	known	74_37	silent	18	36	25	30.77	6	16	SNP	0.002	A	A	42004804	G	A	42004804	2	1	97	1	0	0	0	0	0	0	0	1	6439	1078	38	1		1	GLI3	7	42004804	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	5070297	42004804	117133859	294	1493											
HECW1	23072	genome.wustl.edu	37	chr7	43484345	43484345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagggcaggctgcagctgcGggcctcggtgaagagaaaaa	12	4	17	8	2	0	3	0	1	0	2	1	4	0	3	1	4	3	4	1	4	3	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:43484345G>A	ENST00000395891.2	+	11	2179	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R525Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	525					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						CTGCAGCTGCGGGCCTCGGTG	0.657																																							0											0													25	34	31					7																	43484345		2131	4231	6362	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1574G>A	7.37:g.43484345G>A	ENSP00000379228:p.Arg525Gln		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.R525Q	ENST00000395891.2	37	c.1574	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	7.977	0.750279	0.15778	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.34472	1.44;1.36	5.32	4.43	0.53597	.	7.416330	0.00166	N	0.000001	T	0.41419	0.1158	L	0.46157	1.445	0.09310	N	0.999995	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.46843	-0.9162	10	0.32370	T	0.25	.	15.9953	0.80234	0.0:0.135:0.865:0.0	.	525;525	B4DH42;Q76N89	.;HECW1_HUMAN	Q	525	ENSP00000379228:R525Q;ENSP00000407774:R525Q	ENSP00000265522:R525Q	R	+	2	0	HECW1	43450870	0.488000	0.25996	0.717000	0.30585	0.181000	0.23173	2.952000	0.49097	1.220000	0.43490	0.655000	0.94253	CGG	0	NULL		0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	protein_coding	OTTHUMT00000250893.2	34	54	0	0.00	0	0	G	NM_015052	0	0		43484345	1	no_errors	ENST00000395891	ensembl	human	known	74_37	missense	17	53	15	24.29	3	17	SNP	0.063	A	A	43484345	G	A	43484345	3	1	97	1	0	0	0	0	1	0	0	0	7042	1116	39	2	1608	2	HECW1	7	43484345	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1479541	43484345	115654318	295	1494											
NSUN5	55695	genome.wustl.edu	37	chr7	72718307	72718309	+	In_Frame_Del	DEL	TCC	TCC	-																															agggggagaccgccaggaagTcctcctcagccagttcacag																								rs369544582		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TCC	TCC	TCC	-	TCC	TCC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:72718307_72718309delTCC	ENST00000252594.6	-	7	867_869	c.852_854delGGA	c.(850-855)gaggac>gac	p.E284del	NSUN5_ENST00000428206.1_In_Frame_Del_p.E246del|NSUN5_ENST00000310326.8_In_Frame_Del_p.E284del|NSUN5_ENST00000438747.2_In_Frame_Del_p.E284del			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	284					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)				CGCCAGGAAGTCCTCCTCAGCCA	0.611																																							0											0																																										SO:0001651	inframe_deletion	0			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.852_854delGGA	7.37:g.72718310_72718312delTCC	ENSP00000252594:p.Glu284del		B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	In_Frame_Del	DEL	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.E284in_frame_del	ENST00000252594.6	37	c.854_852	CCDS5547.1	7																																																																																			0	pfam_Fmu/NOL1/Nop2p		0.611	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	protein_coding	OTTHUMT00000252113.1	51	60	0	0.00	0	0	TCC	NM_148956	0	0		72718309	-1	no_errors	ENST00000438747	ensembl	human	known	74_37	in_frame_del	39	44	11.36	29.03	5	18	DEL	1.000:1.000:0.852	0	-	72718309	TCC	-	72718307	7	5	97	1	0	1	0	1	0	0	0	0	10681	1667	58	0	583	0	NSUN5	7	72718307	In_Frame_Del	DEL	TCC	TCGA-ZB-A966-01A-11D-A428-09	29233962	72718307	86420356	296	1495											
FKBP6	8468	genome.wustl.edu	37	chr7	72742644	72742644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggggcgtgctgaaggacGtcatccgagaaggagctgga	10	5	17	9	4	1	2	1	1	0	1	2	6	2	5	2	5	2	2	2	5	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:72742644G>A	ENST00000252037.4	+	2	193	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000431982.2_Missense_Mutation_p.V37I|FKBP6_ENST00000413573.2_Missense_Mutation_p.V42I|TRIM50_ENST00000333149.2_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	42					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)				GCTGAAGGACGTCATCCGAGA	0.602																																							0											0													11	12	12					7																	72742644		2142	4226	6368	SO:0001583	missense	0			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.124G>A	7.37:g.72742644G>A	ENSP00000252037:p.Val42Ile		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.V42I	ENST00000252037.4	37	c.124	CCDS43595.1	7	.	.	.	.	.	.	.	.	.	.	G	8.381	0.837483	0.16891	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.56103	0.93;0.93;0.48;0.93	4.66	1.22	0.21188	.	0.200120	0.41712	N	0.000830	T	0.26159	0.0638	N	0.16656	0.425	0.38647	D	0.951741	B;B	0.17038	0.02;0.003	B;B	0.09377	0.004;0.002	T	0.26815	-1.0092	10	0.02654	T	1	-17.0788	7.1149	0.25411	0.3795:0.0:0.6205:0.0	.	37;42	O75344-2;O75344	.;FKBP6_HUMAN	I	37;37;42;42	ENSP00000416277:V37I;ENSP00000402360:V37I;ENSP00000394952:V42I;ENSP00000252037:V42I	ENSP00000252037:V42I	V	+	1	0	FKBP6	72380580	1.000000	0.71417	0.631000	0.29282	0.839000	0.47603	3.055000	0.49916	0.198000	0.20407	0.485000	0.47835	GTC	0	NULL		0.602	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FKBP6	protein_coding	OTTHUMT00000318723.1	30	42	0	0.00	0	0	G	NM_003602	0	0		72742644	1	no_errors	ENST00000252037	ensembl	human	known	74_37	missense	9	47	52.63	31.88	10	22	SNP	0.958	A	A	72742644	G	A	72742644	3	1	97	1	0	0	0	0	1	0	0	0	5912	1145	40	1	176	1	FKBP6	7	72742644	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	24337	72742644	86396019	297	1496											
CLIP2	7461	genome.wustl.edu	37	chr7	73787283	73787283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagacgcagctggagcacGcgcgcattggggagctggaa	9	4	16	12	4	0	1	0	0	0	1	0	4	0	4	1	4	3	5	1	4	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:73787283G>A	ENST00000395060.1	+	8	1402	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	CLIP2_ENST00000223398.6_Missense_Mutation_p.A468T|CLIP2_ENST00000361545.5_Intron			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	468						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						GCTGGAGCACGCGCGCATTGG	0.687																																							0											0													14	15	14					7																	73787283		2192	4286	6478	SO:0001583	missense	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1402G>A	7.37:g.73787283G>A	ENSP00000378500:p.Ala468Thr		O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.A468T	ENST00000395060.1	37	c.1402	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182248	0.57800	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000395060	T;T	0.61158	0.13;0.13	4.77	3.89	0.44902	.	0.253423	0.39020	N	0.001492	T	0.53883	0.1824	L	0.57536	1.79	0.38261	D	0.941886	D	0.58970	0.984	B	0.43155	0.41	T	0.62129	-0.6919	10	0.56958	D	0.05	-36.1475	11.6907	0.51514	0.0874:0.0:0.9126:0.0	.	468	Q9UDT6	CLIP2_HUMAN	T	468	ENSP00000223398:A468T;ENSP00000378500:A468T	ENSP00000223398:A468T	A	+	1	0	CLIP2	73425219	1.000000	0.71417	0.981000	0.43875	0.255000	0.26057	7.668000	0.83897	1.026000	0.39733	-0.147000	0.13772	GCG	0	NULL		0.687	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	protein_coding	OTTHUMT00000252556.1	26	18	0	0.00	0	0	G	NM_003388	0	0		73787283	1	no_errors	ENST00000223398	ensembl	human	known	74_37	missense	9	24	30.77	27.27	4	9	SNP	1	A	A	73787283	G	A	73787283	3	1	97	1	0	0	0	0	1	0	0	0	3533	1087	38	1	1432	1	CLIP2	7	73787283	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1044639	73787283	85351380	298	1497											
RHBDD2	57414	genome.wustl.edu	37	chr7	75511247	75511247	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaatttcgagagaacCgtgggcaccgtccgccactg	8	7	13	13	4	0	1	0	0	0	1	2	3	1	1	4	2	1	3	4	2	2	1	rs372131603		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:75511247C>T	ENST00000006777.6	+	2	414	c.279C>T	c.(277-279)acC>acT	p.T93T	RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_5'Flank	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	93						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TCGAGAGAACCGTGGGCACCG	0.527																																							0											0								C	,	0,4210		0,0,2105	123	134	130		279,	2.8	1	7		130	1,8467		0,1,4233	no	coding-synonymous,utr-5	RHBDD2	NM_001040456.1,NM_001040457.1	,	0,1,6338	TT,TC,CC		0.0118,0.0,0.0079	,	93/365,	75511247	1,12677	2105	4234	6339	SO:0001819	synonymous_variant	0			AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"rhomboid, veinlet-like 7 (Drosophila)"	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.279C>T	7.37:g.75511247C>T			Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	pfam_Peptidase_S54_rhomboid_dom	p.T93	ENST00000006777.6	37	c.279	CCDS43602.1	7																																																																																			0	pfam_Peptidase_S54_rhomboid_dom		0.527	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD2	protein_coding	OTTHUMT00000344176.1	30	119	0	0.00	0	0	C	NM_020684	rs372131603	C->T		75511247	1	no_errors	ENST00000006777	ensembl	human	known	74_37	silent	11	141	38.89	22.95	7	42	SNP	0.999	T	T	75511247	C	T	75511247	2	4	97	1	0	0	0	0	0	0	0	1	13317	639	23	2		2	RHBDD2	7	75511247	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1723964	75511247	83627416	299	1498											
PCLO	27445	genome.wustl.edu	37	chr7	82581891	82581891	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgacaaaggtcactgtcTcagtggccagagatacagga	13	8	12	8	0	2	2	2	1	1	1	3	4	2	3	1	3	1	0	1	3	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:82581891T>G	ENST00000333891.9	-	5	8715	c.8378A>C	c.(8377-8379)gAg>gCg	p.E2793A	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.E2793A	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						GGTCACTGTCTCAGTGGCCAG	0.433																																							0											0													201	174	183					7																	82581891		2008	4171	6179	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8378A>C	7.37:g.82581891T>G	ENSP00000334319:p.Glu2793Ala			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.E2793A	ENST00000333891.9	37	c.8378	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	2.109	-0.404260	0.04832	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.14893	2.47;2.5	5.39	4.23	0.50019	.	.	.	.	.	T	0.14141	0.0342	L	0.38531	1.155	0.58432	D	0.999995	B;B	0.31548	0.328;0.264	B;B	0.31101	0.124;0.085	T	0.04481	-1.0948	9	0.87932	D	0	.	9.3292	0.38012	0.0:0.1461:0.0:0.8539	.	2793;2793	Q9Y6V0-5;Q9Y6V0-6	.;.	A	2724;2793;2793	ENSP00000334319:E2793A;ENSP00000388393:E2793A	ENSP00000334319:E2793A	E	-	2	0	PCLO	82419827	1.000000	0.71417	0.005000	0.12908	0.275000	0.26752	4.793000	0.62474	0.976000	0.38417	0.533000	0.62120	GAG	0	NULL		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	48	110	2.04	0.00	1	0	T	NM_014510	0	0		82581891	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	24	73	31.43	35.40	11	40	SNP	0.371	G	G	82581891	T	G	82581891	3	3	97	1	0	0	0	0	1	0	0	0	11583	1551	54	5	7151	5	PCLO	7	82581891	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	7070644	82581891	76556772	300	1499											
ABCB4	5244	genome.wustl.edu	37	chr7	87053299	87053299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacatactgttcccacgaCaaagtagggccattctgttt	10	11	9	11	1	1	0	0	0	1	0	2	1	2	0	2	2	1	4	2	2	3	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:87053299C>T	ENST00000265723.4	-	17	2245	c.2134G>A	c.(2134-2136)Gtc>Atc	p.V712I	ABCB4_ENST00000545634.1_Missense_Mutation_p.V712I|ABCB4_ENST00000453593.1_Missense_Mutation_p.V712I|ABCB4_ENST00000359206.3_Missense_Mutation_p.V712I|ABCB4_ENST00000358400.3_Missense_Mutation_p.V712I	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	712	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)	GTTCCCACGACAAAGTAGGGC	0.448																																							0											0													173	168	170					7																	87053299		2203	4300	6503	SO:0001583	missense	0			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.2134G>A	7.37:g.87053299C>T	ENSP00000265723:p.Val712Ile		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.V712I	ENST00000265723.4	37	c.2134	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784645	0.70222	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	6.11	5.21	0.72293	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.131311	0.50627	D	0.000119	D	0.89037	0.6601	L	0.38953	1.18	0.39561	D	0.969128	B;P;P	0.49559	0.113;0.907;0.925	B;P;P	0.53518	0.113;0.607;0.728	D	0.89415	0.3706	10	0.44086	T	0.13	-15.4138	14.9887	0.71368	0.2598:0.7402:0.0:0.0	.	712;712;712	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	I	712	ENSP00000352135:V712I;ENSP00000351172:V712I;ENSP00000265723:V712I;ENSP00000392983:V712I;ENSP00000437465:V712I	ENSP00000265723:V712I	V	-	1	0	ABCB4	86891235	1.000000	0.71417	0.883000	0.34634	0.976000	0.68499	2.190000	0.42630	1.554000	0.49487	0.655000	0.94253	GTC	0	superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.448	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	protein_coding	OTTHUMT00000336083.1	39	192	0	0.00	0	0	C	NM_000443	0	0		87053299	-1	no_errors	ENST00000265723	ensembl	human	known	74_37	missense	16	177	30.43	26.25	7	63	SNP	0.8	T	T	87053299	C	T	87053299	3	4	97	1	0	0	0	0	1	0	0	0	43	478	17	3	1774	3	ABCB4	7	87053299	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	4471408	87053299	72085364	301	1500											
TRRAP	8295	genome.wustl.edu	37	chr7	98509802	98509802	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctggtctttggctctgtctCcctctttgcagctgaaaatg	5	15	10	11	0	4	1	0	1	4	0	5	1	4	1	1	2	2	4	1	2	2	2	rs147405090		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:98509802C>G	ENST00000359863.4	+	18	2374	c.2165C>G	c.(2164-2166)tCc>tGc	p.S722C	TRRAP_ENST00000355540.3_Missense_Mutation_p.S722C|TRRAP_ENST00000446306.3_Missense_Mutation_p.S721C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	722			S -> F (found in a cutaneous malignant melanoma sample; somatic mutation; induces cell transformation and confers resistance to apoptosis). {ECO:0000269|PubMed:21499247}.		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)	p.S722F(10)		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)			GGCTCTGTCTCCCTCTTTGCA	0.463																																							0											10	Substitution - Missense(10)	skin(10)											170	147	155					7																	98509802		2203	4300	6503	SO:0001583	missense	0			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.2165C>G	7.37:g.98509802C>G	ENSP00000352925:p.Ser722Cys		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	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.S722C	ENST00000359863.4	37	c.2165	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.795903|4.795903	0.90453|0.90453	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.03358	.|3.96;3.96	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22360|0.22360	0.0539|0.0539	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.75484	.|0.986;0.982;0.971	T|T	0.00460|0.00460	-1.1726|-1.1726	5|10	.|0.87932	.|D	.|0	.|.	19.423|19.423	0.94729|0.94729	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|722;436;722	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	A|C	437|722;722;720	.|ENSP00000352925:S722C;ENSP00000347733:S722C	.|ENSP00000347733:S722C	P|S	+|+	1|2	0|0	TRRAP|TRRAP	98347738|98347738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.594000|2.594000	0.87642|0.87642	0.655000|0.655000	0.94253|0.94253	CCC|TCC	0	superfamily_ARM-type_fold		0.463	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	protein_coding	OTTHUMT00000317978.1	50	243	0	0.00	0	0	C	NM_003496	0	0		98509802	1	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	35	167	31.37	27.71	16	64	SNP	1	G	G	98509802	C	G	98509802	3	3	97	1	0	0	0	0	1	0	0	0	16598	855	30	5	2231	5	TRRAP	7	98509802	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	11456503	98509802	60628861	302	1501											
ARPC1A	10552	genome.wustl.edu	37	chr7	98951683	98951683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctctgccagtgggagcCgcctggcctgggtcagccac	4	8	14	15	1	2	0	1	0	1	0	3	1	2	1	5	3	3	1	5	3	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:98951683C>T	ENST00000262942.5	+	6	776	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	ARPC1A_ENST00000432884.2_Missense_Mutation_p.R171C|ARPC1A_ENST00000471960.1_3'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	218					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTGGGAGCCGCCTGGCCTG	0.577																																							0											0													55	58	57					7																	98951683		2203	4300	6503	SO:0001583	missense	0			Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	703	protein-coding gene	gene with protein product	"actin binding protein (Schizosaccharomyces pombe sop2-like)", "SOP2-like protein"	604220	"actin related protein 2/3 complex, subunit 1A (41 kD)"			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.652C>T	7.37:g.98951683C>T	ENSP00000262942:p.Arg218Cys		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	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.R218C	ENST00000262942.5	37	c.652	CCDS5660.1	7	.	.	.	.	.	.	.	.	.	.	c	15.23	2.770471	0.49680	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.66815	-0.23;-0.23	5.05	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049279	0.85682	D	0.000000	T	0.62780	0.2456	L	0.60455	1.87	0.80722	D	1	B;B	0.25955	0.138;0.031	B;B	0.24006	0.05;0.005	T	0.62623	-0.6815	10	0.48119	T	0.1	.	13.6922	0.62553	0.1544:0.8456:0.0:0.0	.	213;218	Q53GB6;Q92747	.;ARC1A_HUMAN	C	171;218	ENSP00000408578:R171C;ENSP00000262942:R218C	ENSP00000262942:R218C	R	+	1	0	ARPC1A	98789619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.578000	0.53892	2.516000	0.84829	0.555000	0.69702	CGC	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1		0.577	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC1A	protein_coding	OTTHUMT00000335908.1	47	83	0	0.00	0	0	C	NM_006409	0	0		98951683	1	no_errors	ENST00000262942	ensembl	human	known	74_37	missense	20	70	31.03	32.69	9	34	SNP	1	T	T	98951683	C	T	98951683	3	4	97	1	0	0	0	0	1	0	0	0	969	652	23	2	670	2	ARPC1A	7	98951683	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	441881	98951683	60186980	303	1502											
ZNF394	84124	genome.wustl.edu	37	chr7	99091546	99091546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtgggtactttgatgaCgatttaggtgtgaattctgc	8	16	12	5	1	1	3	0	3	1	0	1	4	1	3	0	2	3	1	0	2	4	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:99091546C>T	ENST00000337673.6	-	3	1495	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	ZNF394_ENST00000394177.3_5'Flank|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	431					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACTTTGATGACGATTTAGGTG	0.463																																					Ovarian(24;589 697 9939 12704 40742)		0											0													109	110	110					7																	99091546		2203	4300	6503	SO:0001583	missense	0			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1292G>A	7.37:g.99091546C>T	ENSP00000337363:p.Arg431His		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	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.R431H	ENST00000337673.6	37	c.1292	CCDS5666.1	7	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669104	0.47677	.	.	ENSG00000160908	ENST00000337673	T	0.16743	2.32	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.168342	0.28927	N	0.013686	T	0.28732	0.0712	L	0.47016	1.485	0.36210	D	0.851297	D	0.89917	1.0	D	0.69479	0.964	T	0.10177	-1.0641	10	0.36615	T	0.2	.	9.2494	0.37547	0.0:0.7785:0.2214:0.0	.	431	Q53GI3	ZN394_HUMAN	H	431	ENSP00000337363:R431H	ENSP00000337363:R431H	R	-	2	0	ZNF394	98929482	0.000000	0.05858	0.991000	0.47740	0.966000	0.64601	-1.006000	0.03671	2.292000	0.77174	0.655000	0.94253	CGT	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	protein_coding	OTTHUMT00000336498.1	53	219	0	0.45	0	1	C	NM_032164	0	0		99091546	-1	no_errors	ENST00000337673	ensembl	human	known	74_37	missense	26	165	34.15	27.95	14	64	SNP	0.489	T	T	99091546	C	T	99091546	3	4	97	1	0	0	0	0	1	0	0	0	17877	536	19	1	397	1	ZNF394	7	99091546	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	139863	99091546	60047117	304	1503											
ZKSCAN1	7586	genome.wustl.edu	37	chr7	99621354	99621354	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccgagaggctctcagTcggctgaaggaactttgtca	8	8	14	11	2	2	2	2	1	1	1	4	4	2	3	2	4	1	2	2	4	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:99621354T>A	ENST00000324306.6	+	2	459	c.225T>A	c.(223-225)agT>agA	p.S75R	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S39R|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	75	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGCTCTCAGTCGGCTGAAGG	0.547																																							0											0													66	74	71					7																	99621354		2203	4300	6503	SO:0001583	missense	0			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.225T>A	7.37:g.99621354T>A	ENSP00000323148:p.Ser75Arg		A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	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.S75R	ENST00000324306.6	37	c.225	CCDS34698.1	7	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862728	0.32884	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000432317	T;T;T	0.04862	3.54;3.54;3.54	4.63	3.49	0.39957	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.205118	0.34932	N	0.003576	T	0.07999	0.0200	M	0.64170	1.965	0.80722	D	1	P;B	0.37101	0.582;0.324	B;B	0.37267	0.245;0.172	T	0.09907	-1.0653	10	0.72032	D	0.01	.	5.8304	0.18577	0.0:0.205:0.0:0.795	.	75;39	P17029;E9PC66	ZKSC1_HUMAN;.	R	75;39;75	ENSP00000323148:S75R;ENSP00000409172:S39R;ENSP00000394445:S75R	ENSP00000323148:S75R	S	+	3	2	ZKSCAN1	99459290	0.994000	0.37717	1.000000	0.80357	0.882000	0.50991	0.301000	0.19174	0.815000	0.34398	0.397000	0.26171	AGT	0	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.547	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	protein_coding	OTTHUMT00000344550.2	39	170	0	0.00	0	0	T	NM_003439	0	0		99621354	1	no_errors	ENST00000324306	ensembl	human	known	74_37	missense	18	139	30.77	23.20	8	42	SNP	1	A	A	99621354	T	A	99621354	3	1	97	1	0	0	0	0	1	0	0	0	17683	1664	58	5	227	5	ZKSCAN1	7	99621354	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	529808	99621354	59517309	305	1504											
SPDYE3	441272	genome.wustl.edu	37	chr7	99905529	99905529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacgagccatcaaccgcaGccccaggaagagcagagccc	13	2	11	15	2	1	3	1	1	0	2	1	5	1	4	5	1	5	2	5	1	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:99905529G>T	ENST00000332397.6	+	1	205	c.21G>T	c.(19-21)caG>caT	p.Q7H	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	7										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						ATCAACCGCAGCCCCAGGAAG	0.572																																							0											0													16	15	15					7																	99905529		874	1984	2858	SO:0001583	missense	0			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.21G>T	7.37:g.99905529G>T	ENSP00000329565:p.Gln7His		Q495Y9|Q6PHC4	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.Q7H	ENST00000332397.6	37	c.21	CCDS47658.2	7	.	.	.	.	.	.	.	.	.	.	G	0.001	-4.050910	0.00002	.	.	ENSG00000214300	ENST00000332397	.	.	.	0.128	-0.256	0.12984	.	.	.	.	.	T	0.08179	0.0204	N	0.02802	-0.49	0.09310	N	0.999999	.	.	.	.	.	.	T	0.25082	-1.0142	5	0.02654	T	1	.	.	.	.	.	.	.	.	H	7	.	ENSP00000329565:Q7H	Q	+	3	2	SPDYE3	99743465	0.251000	0.23961	0.004000	0.12327	0.004000	0.04260	-2.613000	0.00883	-2.508000	0.00506	-2.493000	0.00193	CAG	0	NULL		0.572	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	protein_coding	OTTHUMT00000340224.2	222	20	0	0.00	0	0	G	NM_001004351	0	0		99905529	1	no_errors	ENST00000332397	ensembl	human	known	74_37	missense	144	31	28.36	22.50	57	9	SNP	0.005	T	T	99905529	G	T	99905529	3	4	97	1	0	0	0	0	1	0	0	0	15029	962	34	5	23	5	SPDYE3	7	99905529	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	284175	99905529	59233134	306	1505											
LRCH4	4034	genome.wustl.edu	37	chr7	100176037	100176037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaccagggactgaaactcGggggccgagaaggggccagg	10	4	17	10	2	0	2	0	1	0	1	1	4	0	3	3	6	2	0	3	6	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:100176037G>A	ENST00000310300.6	-	6	885	c.833C>T	c.(832-834)cCg>cTg	p.P278L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	278					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTGAAACTCGGGGGCCGAGA	0.632																																							0											0													32	41	38					7																	100176037		2200	4295	6495	SO:0001583	missense	0			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.833C>T	7.37:g.100176037G>A	ENSP00000309689:p.Pro278Leu		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.P278L	ENST00000310300.6	37	c.833	CCDS34706.1	7	.	.	.	.	.	.	.	.	.	.	g	13.89	2.372859	0.42105	.	.	ENSG00000077454	ENST00000310300	T	0.29917	1.55	5.19	4.3	0.51218	.	0.134831	0.50627	D	0.000115	T	0.19485	0.0468	L	0.34521	1.04	0.80722	D	1	B	0.17667	0.023	B	0.10450	0.005	T	0.03969	-1.0988	10	0.07175	T	0.84	-16.2064	10.818	0.46587	0.0917:0.0:0.9083:0.0	.	278	O75427	LRCH4_HUMAN	L	278	ENSP00000309689:P278L	ENSP00000309689:P278L	P	-	2	0	LRCH4	100013973	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	3.640000	0.54350	2.439000	0.82584	0.538000	0.68166	CCG	0	NULL		0.632	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	protein_coding	OTTHUMT00000356110.1	70	134	0	0.00	0	0	G	NM_002319	0	0		100176037	-1	no_errors	ENST00000310300	ensembl	human	known	74_37	missense	39	84	27.78	32.80	15	41	SNP	0.901	A	A	100176037	G	A	100176037	3	1	97	1	0	0	0	0	1	0	0	0	8935	1116	39	2	1270	2	LRCH4	7	100176037	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	270508	100176037	58962626	307	1506											
PCOLCE	5118	genome.wustl.edu	37	chr7	100205404	100205404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagttttacgtgccttGcaagcagtgcccccccatga	8	10	9	14	1	0	2	0	2	0	0	0	2	0	2	5	0	5	3	5	0	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:100205404G>A	ENST00000223061.5	+	8	1437	c.1157G>A	c.(1156-1158)tGc>tAc	p.C386Y		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	386	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				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)					TACGTGCCTTGCAAGCAGTGC	0.517																																							0											0													119	114	115					7																	100205404		2203	4300	6503	SO:0001583	missense	0			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.1157G>A	7.37:g.100205404G>A	ENSP00000223061:p.Cys386Tyr		B2R9E1|O14550	Missense_Mutation	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.C386Y	ENST00000223061.5	37	c.1157	CCDS5700.1	7	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897121	0.72639	.	.	ENSG00000106333	ENST00000223061	T	0.32023	1.47	4.42	4.42	0.53409	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.109416	0.64402	D	0.000005	T	0.51449	0.1675	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46803	-0.9165	10	0.33141	T	0.24	-18.7182	12.374	0.55269	0.0:0.0:1.0:0.0	.	386	Q15113	PCOC1_HUMAN	Y	386	ENSP00000223061:C386Y	ENSP00000223061:C386Y	C	+	2	0	PCOLCE	100043340	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.173000	0.71937	2.285000	0.76669	0.462000	0.41574	TGC	0	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.517	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	protein_coding	OTTHUMT00000345285.1	63	200	0	0.00	0	0	G	NM_002593	0	0		100205404	1	no_errors	ENST00000223061	ensembl	human	known	74_37	missense	19	169	34.48	28.09	10	66	SNP	1	A	A	100205404	G	A	100205404	3	1	97	1	0	0	0	0	1	0	0	0	11594	1319	46	3	1187	3	PCOLCE	7	100205404	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	29367	100205404	58933259	308	1507											
GIGYF1	64599	genome.wustl.edu	37	chr7	100282727	100282727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctccgggtgggccagcaGaggagcccaccccgggactc	7	4	15	15	2	1	1	0	0	1	1	3	4	1	3	5	4	2	1	5	4	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:100282727G>A	ENST00000275732.5	-	11	2444	c.1235C>T	c.(1234-1236)tCt>tTt	p.S412F	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	412					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)					TGGGCCAGCAGAGGAGCCCAC	0.597																																							0											0													16	18	17					7																	100282727		2193	4287	6480	SO:0001583	missense	0			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.1235C>T	7.37:g.100282727G>A	ENSP00000275732:p.Ser412Phe		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.S412F	ENST00000275732.5	37	c.1235	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	13.10	2.135413	0.37728	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.82893	-1.66	4.87	4.87	0.63330	.	0.285942	0.33092	N	0.005297	T	0.64875	0.2638	N	0.08118	0	0.36836	D	0.887158	B	0.27732	0.187	B	0.26517	0.07	T	0.65183	-0.6230	10	0.09590	T	0.72	-6.9418	13.3781	0.60752	0.0:0.0:1.0:0.0	.	412	O75420	PERQ1_HUMAN	F	131;412	ENSP00000275732:S412F	ENSP00000275732:S412F	S	-	2	0	GIGYF1	100120663	1.000000	0.71417	0.616000	0.29078	0.202000	0.24057	5.421000	0.66447	2.539000	0.85634	0.462000	0.41574	TCT	0	NULL		0.597	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	protein_coding	OTTHUMT00000347205.2	62	55	0	0.00	0	0	G	NM_022574	0	0		100282727	-1	no_errors	ENST00000275732	ensembl	human	known	74_37	missense	23	37	33.33	21.28	12	10	SNP	1	A	A	100282727	G	A	100282727	3	1	97	1	0	0	0	0	1	0	0	0	6377	942	33	3	1928	3	GIGYF1	7	100282727	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	77323	100282727	58855936	309	1508											
SRRT	51593	genome.wustl.edu	37	chr7	100479358	100479358	+	Frame_Shift_Del	DEL	C	C	-																															ggtgggggcccaacttatggCccccctcagccctggggcca																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:100479358delC	ENST00000347433.4	+	4	488	c.330delC	c.(328-330)ggcfs	p.G110fs	SRRT_ENST00000457580.2_Frame_Shift_Del_p.G110fs|SRRT_ENST00000388793.4_Frame_Shift_Del_p.G110fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.G110fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	110					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						CAACTTATGGCCCCCCTCAGC	0.612																																							0											0													34	36	35					7																	100479358		2201	4296	6497	SO:0001589	frameshift_variant	0				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.330delC	7.37:g.100479358delC	ENSP00000314491:p.Gly110fs		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Del	DEL	pfam_Arsenite-R_2,pfam_DUF3546	p.P112fs	ENST00000347433.4	37	c.330	CCDS34709.1	7																																																																																			0	NULL		0.612	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	protein_coding	OTTHUMT00000347168.1	14	25	0	0.00	0	0	C	NM_015908	0	0		100479358	1	no_errors	ENST00000388793	ensembl	human	known	74_37	frame_shift_del	14	22	36.36	29.03	8	9	DEL	1	0	-	100479358	C	-	100479358	7	5	97	1	0	1	0	1	0	0	0	0	15171	726	26	0	340	0	SRRT	7	100479358	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	196631	100479358	58659305	310	1509											
TRIM56	81844	genome.wustl.edu	37	chr7	100731858	100731858	+	Frame_Shift_Del	DEL	A	A	-																															agcccagaccccaaaagaggAaaaagcccagacaacccgag																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:100731858delA	ENST00000306085.6	+	3	1562	c.1265delA	c.(1264-1266)gaafs	p.E422fs		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	422					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAAAAGAGGAAAAAGCCCAG	0.647																																					Ovarian(89;1092 1379 22756 38989 39611)		0											0																																										SO:0001589	frameshift_variant	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1265delA	7.37:g.100731858delA	ENSP00000305161:p.Glu422fs		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Frame_Shift_Del	DEL	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A424fs	ENST00000306085.6	37	c.1265	CCDS43625.1	7																																																																																			0	NULL		0.647	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	protein_coding	OTTHUMT00000347185.1	55	136	0	0.00	0	0	A	NM_030961	0	0		100731858	1	no_errors	ENST00000306085	ensembl	human	known	74_37	frame_shift_del	36	114	10	33.72	4	58	DEL	0.002	0	-	100731858	A	-	100731858	7	5	97	1	0	1	0	1	0	0	0	0	16527	246	9	0	1267	0	TRIM56	7	100731858	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	252500	100731858	58406805	311	1510											
POLR2J	5439	genome.wustl.edu	37	chr7	102116666	102116666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtgtggtcttctttgttGatggtgaataaacaggcatt	9	16	12	4	0	2	2	0	2	2	0	2	2	2	2	0	3	1	2	0	3	3	5	rs138574638		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:102116666G>C	ENST00000292614.5	-	2	151	c.105C>G	c.(103-105)atC>atG	p.I35M	POLR2J_ENST00000393794.3_Missense_Mutation_p.I35M	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	35					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)|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)|LRR domain binding (GO:0030275)			pancreas(2)	2						CTTCTTTGTTGATGGTGAATA	0.517																																							0											0													14	10	11					7																	102116666		1983	3760	5743	SO:0001583	missense	0			X98433	CCDS5724.1	7q11.2	2013-01-21	2002-08-29		ENSG00000005075	ENSG00000005075		"RNA polymerase subunits"	9197	protein-coding gene	gene with protein product		604150	"polymerase (RNA) II (DNA directed) polypeptide J (13.3kD)"				Standard	XM_005250452		Approved	RPB11, hRPB14, RPB11A, RPB11m, POLR2J1	uc003uzp.1	P52435	OTTHUMG00000150387	ENST00000292614.5:c.105C>G	7.37:g.102116666G>C	ENSP00000292614:p.Ile35Met		A5D6V8|O43375	Missense_Mutation	SNP	pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer	p.I35M	ENST00000292614.5	37	c.105	CCDS5724.1	7	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059227	0.55325	.	.	ENSG00000005075	ENST00000292614;ENST00000393794	D;D	0.94793	-3.52;-3.52	5.04	5.04	0.67666	DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);DNA-directed RNA polymerase Rpb11, 13-16kDa subunit, conserved site (1);	0.062759	0.64402	D	0.000005	D	0.94466	0.8219	M	0.72894	2.215	0.44834	D	0.997843	P	0.36483	0.555	B	0.40982	0.345	D	0.94683	0.7867	10	0.54805	T	0.06	-29.9027	17.0235	0.86440	0.0:0.0:1.0:0.0	.	35	P52435	RPB11_HUMAN	M	35	ENSP00000292614:I35M;ENSP00000377383:I35M	ENSP00000292614:I35M	I	-	3	3	POLR2J	101903671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.567000	0.45956	2.359000	0.80004	0.650000	0.86243	ATC	0	pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer		0.517	POLR2J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2J	protein_coding	OTTHUMT00000317913.1	13	10	0	0.00	0	0	G	NM_006234	rs138574638	G->C		102116666	-1	no_errors	ENST00000393794	ensembl	human	known	74_37	missense	6	4	33.33	42.86	3	3	SNP	1	C	C	102116666	G	C	102116666	3	2	97	1	0	0	0	0	1	0	0	0	12223	1280	45	5	260	5	POLR2J	7	102116666	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1384808	102116666	57021997	312	1511											
RELN	5649	genome.wustl.edu	37	chr7	103155797	103155797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacattgtcaatggcccagtCgttctgatccaggccgtcat	8	11	10	12	2	3	1	2	1	1	0	5	2	4	1	3	2	0	1	3	2	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:103155797C>T	ENST00000428762.1	-	50	8113	c.7954G>A	c.(7954-7956)Gac>Aac	p.D2652N	RELN_ENST00000424685.2_Missense_Mutation_p.D2652N|RELN_ENST00000343529.5_Missense_Mutation_p.D2652N|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2652					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)		ATGGCCCAGTCGTTCTGATCC	0.542																																					NSCLC(146;835 1944 15585 22231 52158)		0											0													54	48	50					7																	103155797		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7954G>A	7.37:g.103155797C>T	ENSP00000392423:p.Asp2652Asn		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.D2652N	ENST00000428762.1	37	c.7954	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.471659	0.96274	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.26810	1.71;1.71;1.71	5.12	5.12	0.69794	Neuraminidase (2);	0.098264	0.64402	D	0.000002	T	0.34135	0.0887	N	0.21373	0.66	0.58432	D	0.999999	D;P	0.61697	0.99;0.754	P;B	0.57502	0.822;0.283	T	0.10894	-1.0610	10	0.59425	D	0.04	.	18.75	0.91810	0.0:1.0:0.0:0.0	.	2652;2652	P78509-2;P78509	.;RELN_HUMAN	N	2652;2652;2652;169;2652	ENSP00000392423:D2652N;ENSP00000345694:D2652N;ENSP00000388446:D2652N	ENSP00000345694:D2652N	D	-	1	0	RELN	102943033	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.276000	0.78559	2.647000	0.89833	0.643000	0.83706	GAC	0	superfamily_Sialidases		0.542	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	37	124	0	0.00	0	0	C	NM_005045	0	0		103155797	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	10	82	44.44	32.52	8	40	SNP	1	T	T	103155797	C	T	103155797	3	4	97	1	0	0	0	0	1	0	0	0	13220	884	31	2	2492	2	RELN	7	103155797	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1039131	103155797	55982866	313	1512											
DOCK4	9732	genome.wustl.edu	37	chr7	111405191	111405192	+	Frame_Shift_Ins	INS	-	-	T																															actcttaagaaaaatggaaaINStttttttccataaaatccaa																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:111405191_111405192insT	ENST00000437633.1	-	38	4231_4232	c.3975_3976insA	c.(3973-3978)aaatttfs	p.F1326fs	DOCK4_ENST00000494651.2_Frame_Shift_Ins_p.F209fs|DOCK4_ENST00000428084.1_Frame_Shift_Ins_p.F1335fs	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1326	DHR-2.				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)				AAAAATGGAAATTTTTTTCCAT	0.322																																							0											0																																										SO:0001589	frameshift_variant	0				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.3976dupA	7.37:g.111405198_111405198dupT	ENSP00000404179:p.Phe1326fs		O14584|O94824|Q8NB45	Frame_Shift_Ins	INS	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.F1334fs	ENST00000437633.1	37	c.4003_4002	CCDS47688.1	7																																																																																			0	NULL		0.322	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	protein_coding	OTTHUMT00000338369.4	154	140	0	0.00	0	0	0	NM_014705	0	0		111405192	-1	no_errors	ENST00000428084	ensembl	human	known	74_37	frame_shift_ins	84	133	28.21	20.36	33	34	INS	1.000:0.955	T	T	111405192	-	T	111405191	7	5	97	1	0	1	1	0	0	0	0	0	4689	101	4	0	1984	0	DOCK4	7	111405191	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	8249394	111405191	47733472	314	1513											
KCND2	3751	genome.wustl.edu	37	chr7	120373118	120373118	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacaaacgaagggcacaaaAggtgcgtattcaactccgtg	15	6	11	9	3	1	1	1	0	0	1	2	2	2	1	1	2	3	2	1	2	6	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:120373118A>G	ENST00000331113.4	+	2	2242	c.1277A>G	c.(1276-1278)aAg>aGg	p.K426R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	426					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)	AGGGCACAAAAGGTGCGTATT	0.438																																							0											0													153	129	137					7																	120373118		2203	4300	6503	SO:0001630	splice_region_variant	0			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.1278+1A>G	7.37:g.120373118A>G			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.K426R	ENST00000331113.4	37	c.1277	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817128	0.32145	.	.	ENSG00000184408	ENST00000331113	D	0.96856	-4.15	5.57	5.57	0.84162	.	0.061993	0.64402	D	0.000005	D	0.93514	0.7930	L	0.43152	1.355	0.34558	D	0.712031	B	0.22851	0.076	B	0.23852	0.049	D	0.93426	0.6781	9	.	.	.	.	14.2755	0.66177	1.0:0.0:0.0:0.0	.	426	Q9NZV8	KCND2_HUMAN	R	426	ENSP00000333496:K426R	.	K	+	2	0	KCND2	120160354	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	4.526000	0.60566	2.248000	0.74166	0.533000	0.62120	AAG	0	prints_K_chnl_volt-dep_Kv4		0.438	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	protein_coding	OTTHUMT00000346996.1	38	208	0	0.00	0	0	A	NM_012281	0	0	Missense_Mutation	120373118	1	no_errors	ENST00000331113	ensembl	human	known	74_37	missense	34	176	22.73	24.46	10	57	SNP	1	G	G	120373118	A	G	120373118	5	3	97	1	0	0	0	0	0	0	1	0	8019	86	3	4	1283	4	KCND2	7	120373118	Splice_Site	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	8967927	120373118	38765545	315	1514											
C7orf58	79974	genome.wustl.edu	37	chr7	120740103	120740103	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcattcattcattcgacGggcacagtttggaatccacc	9	11	9	12	3	2	0	2	0	0	0	4	2	3	1	2	2	1	3	2	2	1	4	rs798937	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:120740103G>A	ENST00000310396.5	+	7	1340	c.873G>A	c.(871-873)acG>acA	p.T291T	CPED1_ENST00000423795.1_Silent_p.T71T|CPED1_ENST00000450913.2_Silent_p.T291T	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	291						endoplasmic reticulum (GO:0005783)											TTCATTCGACGGGCACAGTTT	0.418																																							0											0													147	127	134					7																	120740103		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.873G>A	7.37:g.120740103G>A			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	NULL	p.T291	ENST00000310396.5	37	c.873	CCDS34739.1	7																																																																																			0	NULL		0.418	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	protein_coding	OTTHUMT00000346959.1	97	229	0	0.00	0	0	G	NM_024913	0	0		120740103	1	no_errors	ENST00000310396	ensembl	human	known	74_37	silent	47	187	29.85	33.45	20	94	SNP	0.987	A	A	120740103	G	A	120740103	2	1	97	1	0	0	0	0	0	0	0	1	2405	1103	39	2		2	C7orf58	7	120740103	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	366985	120740103	38398560	316	1515											
WNT16	51384	genome.wustl.edu	37	chr7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-																															agcaagtgaaggctggcactGggggggctgctccgatgatg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:120971879delG	ENST00000222462.2	+	3	784	c.494delG	c.(493-495)tggfs	p.W165fs	WNT16_ENST00000361301.2_Frame_Shift_Del_p.W155fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	165					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.C168fs*4(2)|p.G167fs*17(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GGCTGGCACTGGGGGGGCTGC	0.532																																							0											3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|large_intestine(1)											57	58	58					7																	120971879		2203	4300	6503	SO:0001589	frameshift_variant	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"Wingless-type MMTV integration sites"	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.494delG	7.37:g.120971879delG	ENSP00000222462:p.Trp165fs		Q2M3G1|Q9Y5C0	Frame_Shift_Del	DEL	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.G167fs	ENST00000222462.2	37	c.494	CCDS5781.1	7																																																																																			0	pfam_Wnt,smart_Wnt,prints_Wnt		0.532	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	protein_coding	OTTHUMT00000346843.1	48	129	0	0.77	0	1	G	NM_057168	0	0		120971879	1	no_errors	ENST00000222462	ensembl	human	known	74_37	frame_shift_del	19	142	26.92	26.80	7	52	DEL	1	0	-	120971879	G	-	120971879	7	5	97	1	0	1	0	1	0	0	0	0	17382	1357	47	0	573	0	WNT16	7	120971879	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	231776	120971879	38166784	317	1516											
RNF133	168433	genome.wustl.edu	37	chr7	122338557	122338557	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgaaacatggggaacAcctggttgccagtacctgga	11	8	12	10	0	0	2	0	2	0	0	0	4	0	4	4	4	4	2	4	4	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:122338557A>C	ENST00000340112.2	-	1	653	c.416T>G	c.(415-417)gTg>gGg	p.V139G	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	139	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CATGGGGAACACCTGGTTGCC	0.433																																					Colon(198;1778 2057 7449 19869 45985)		0											0													114	107	109					7																	122338557		2203	4299	6502	SO:0001583	missense	0			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.416T>G	7.37:g.122338557A>C	ENSP00000344489:p.Val139Gly		A4D0W2|Q8N7G7	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V139G	ENST00000340112.2	37	c.416	CCDS5784.1	7	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061259	0.55432	.	.	ENSG00000188050	ENST00000340112	T	0.06142	3.34	5.62	5.62	0.85841	Protease-associated domain, PA (1);	0.294083	0.28589	N	0.014807	T	0.15176	0.0366	L	0.54965	1.715	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.17137	-1.0379	10	0.20046	T	0.44	.	6.1411	0.20261	0.7796:0.0:0.0763:0.1441	.	139	Q8WVZ7	RN133_HUMAN	G	139	ENSP00000344489:V139G	ENSP00000344489:V139G	V	-	2	0	RNF133	122125793	0.425000	0.25498	0.993000	0.49108	0.995000	0.86356	3.324000	0.52022	2.137000	0.66172	0.459000	0.35465	GTG	0	pfam_Protease-assoc_domain		0.433	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	protein_coding	OTTHUMT00000347413.1	56	232	0	0.00	0	0	A	NM_139175	0	0		122338557	-1	no_errors	ENST00000340112	ensembl	human	known	74_37	missense	25	185	35.9	33.69	14	94	SNP	0.988	C	C	122338557	A	C	122338557	3	2	97	1	0	0	0	0	1	0	0	0	13439	159	6	5	718	5	RNF133	7	122338557	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	1366678	122338557	36800106	318	1517											
SND1	27044	genome.wustl.edu	37	chr7	127727080	127727080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccacggagtatgccttcGccttcatccaggtgccccaa	9	8	9	15	2	1	0	1	0	0	0	3	1	2	1	6	2	3	1	6	2	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:127727080G>A	ENST00000354725.3	+	21	2589	c.2395G>A	c.(2395-2397)Gcc>Acc	p.A799T		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	799					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						GTATGCCTTCGCCTTCATCCA	0.597																																							0											0													111	85	94					7																	127727080		2203	4300	6503	SO:0001583	missense	0				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.2395G>A	7.37:g.127727080G>A	ENSP00000346762:p.Ala799Thr		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.A799T	ENST00000354725.3	37	c.2395	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.632062	0.96682	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.35048	1.33	5.96	5.96	0.96718	Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.105068	0.64402	D	0.000004	T	0.69700	0.3140	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.77146	-0.2695	10	0.87932	D	0	-20.3462	15.9221	0.79583	0.0:0.0:1.0:0.0	.	799	Q7KZF4	SND1_HUMAN	T	799;789	ENSP00000346762:A799T	ENSP00000346762:A799T	A	+	1	0	SND1	127514316	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.052000	0.93855	2.832000	0.97577	0.655000	0.94253	GCC	0	superfamily_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN		0.597	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	protein_coding	OTTHUMT00000349148.1	17	119	0	0.00	0	0	G	NM_014390	0	0		127727080	1	no_errors	ENST00000354725	ensembl	human	known	74_37	missense	10	79	29.41	27.52	5	30	SNP	1	A	A	127727080	G	A	127727080	3	1	97	1	0	0	0	0	1	0	0	0	14844	1087	38	1	2477	1	SND1	7	127727080	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	5388523	127727080	31411583	319	1518											
IRF5	3663	genome.wustl.edu	37	chr7	128588315	128588317	+	In_Frame_Del	DEL	TCT	TCT	-																															caccccaccacccttcgagaTcttcttctgctttggggaag																								rs576256045	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TCT	TCT	TCT	-	TCT	TCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:128588315_128588317delTCT	ENST00000402030.2	+	8	1256_1258	c.1184_1186delTCT	c.(1183-1188)atcttc>atc	p.F397del	IRF5_ENST00000473745.1_In_Frame_Del_p.F397del|IRF5_ENST00000477535.1_In_Frame_Del_p.F311del|IRF5_ENST00000249375.4_In_Frame_Del_p.F397del|IRF5_ENST00000357234.5_In_Frame_Del_p.F413del	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	397					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						CCCTTCGAGATCTTCTTCTGCTT	0.537																																							0											0																																										SO:0001651	inframe_deletion	0				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.1184_1186delTCT	7.37:g.128588321_128588323delTCT	ENSP00000385352:p.Phe397del		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	In_Frame_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.F413in_frame_del	ENST00000402030.2	37	c.1232_1234	CCDS5808.1	7																																																																																			0	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain		0.537	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	protein_coding	OTTHUMT00000350934.1	34	216	0	0.00	0	0	TCT	NM_001098627	0	0		128588317	1	no_errors	ENST00000357234	ensembl	human	known	74_37	in_frame_del	32	182	17.95	25.41	7	62	DEL	1.000:0.999:1.000	0	-	128588317	TCT	-	128588315	7	5	97	1	0	1	0	1	0	0	0	0	7833	1435	50	0	1258	0	IRF5	7	128588315	In_Frame_Del	DEL	TCT	TCGA-ZB-A966-01A-11D-A428-09	861235	128588315	30550348	320	1519											
PODXL	5420	genome.wustl.edu	37	chr7	131195725	131195725	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcgtcgaagtgggttgtcGggggctaagtggacttgtag	7	11	18	5	3	0	0	0	0	0	0	2	2	0	1	0	4	1	3	0	4	3	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:131195725G>A	ENST00000378555.3	-	2	815	c.568C>T	c.(568-570)Cga>Tga	p.R190*	PODXL_ENST00000537928.1_Nonsense_Mutation_p.R190*|PODXL_ENST00000541194.1_Nonsense_Mutation_p.R192*|PODXL_ENST00000322985.9_Nonsense_Mutation_p.R190*|PODXL_ENST00000465001.1_5'Flank			O00592	PODXL_HUMAN	podocalyxin-like	190	Thr-rich.				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)					GTGGGTTGTCGGGGGCTAAGT	0.537																																							0											0													232	202	212					7																	131195725		2203	4300	6503	SO:0001587	stop_gained	0				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.568C>T	7.37:g.131195725G>A	ENSP00000367817:p.Arg190*		A6NHX8|Q52LZ7|Q53ER6	Nonsense_Mutation	SNP	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.R192*	ENST00000378555.3	37	c.574	CCDS34755.1	7	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354423	0.41700	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	.	.	.	3.06	-6.12	0.02124	.	123.755000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	6.9926	1.3972	0.02263	0.1168:0.2138:0.2606:0.4087	.	.	.	.	X	192;190;180;190;190	.	ENSP00000319782:R190X	R	-	1	2	PODXL	130846265	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.721000	0.00384	-8.266000	0.00000	-3.623000	0.00027	CGA	0	pirsf_Podocalyxin-like_p1		0.537	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	protein_coding	OTTHUMT00000337627.2	66	152	0	0.00	0	0	G	NM_001018111	0	0		131195725	-1	no_errors	ENST00000541194	ensembl	human	known	74_37	nonsense	30	135	37.5	29.69	18	57	SNP	0	A	A	131195725	G	A	131195725	4	1	97	1	0	0	0	0	0	1	0	0	12180	1124	39	2	1140	2	PODXL	7	131195725	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2607410	131195725	27942938	321	1520											
PRSS1	5644	genome.wustl.edu	37	chr7	142459791	142459791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagtaatcaacgcccgcGtgtccaccatctctctgccc	7	9	8	17	3	3	0	1	0	2	0	5	0	4	0	4	0	3	2	4	0	2	1	rs144403091		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:142459791G>A	ENST00000311737.7	+	3	373	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	PRSS1_ENST00000486171.1_Missense_Mutation_p.V137M	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	123	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)	CAACGCCCGCGTGTCCACCAT	0.587																																							0											0			GRCh37	CM011004	PRSS1	M	rs144403091	G	MET/VAL	0,4406		0,0,2203	140	132	135		367	3.3	0.1	7	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRSS1	NM_002769.4	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	123/248	142459791	1,13005	2203	4300	6503	SO:0001583	missense	0			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.367G>A	7.37:g.142459791G>A	ENSP00000308720:p.Val123Met		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.V123M	ENST00000311737.7	37	c.367	CCDS5872.1	7	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895251	0.33442	0.0	1.16E-4	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.92048	-2.96;-2.96;-2.96	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.113083	0.64402	D	0.000016	D	0.96185	0.8756	M	0.92459	3.31	0.34727	D	0.729335	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.97760	1.0220	10	0.87932	D	0	.	9.1627	0.37032	0.1181:0.0:0.8819:0.0	.	137;123	E7EQ64;P07477	.;TRY1_HUMAN	M	137;123;113;73	ENSP00000417854:V137M;ENSP00000308720:V123M;ENSP00000419912:V73M	ENSP00000308720:V123M	V	+	1	0	PRSS1	142139365	1.000000	0.71417	0.061000	0.19648	0.003000	0.03518	4.787000	0.62432	1.789000	0.52484	0.398000	0.26397	GTG	0	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.587	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	protein_coding	OTTHUMT00000352538.2	45	149	0	0.00	0	0	G		rs144403091	G->A		142459791	1	no_errors	ENST00000311737	ensembl	human	known	74_37	missense	20	99	48.72	31.25	19	45	SNP	0.698	A	A	142459791	G	A	142459791	3	1	97	1	0	0	0	0	1	0	0	0	12614	1145	40	1	377	1	PRSS1	7	142459791	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	11264066	142459791	16678872	322	1521											
NOS3	4846	genome.wustl.edu	37	chr7	150698994	150698994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatggctccgagaccggcCgggcccagagctacgcacag	8	5	14	14	4	0	2	0	0	0	2	1	3	1	2	4	3	2	4	4	3	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:150698994C>T	ENST00000484524.1	+	12	1588	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	NOS3_ENST00000297494.3_Missense_Mutation_p.R530W|NOS3_ENST00000461406.1_Missense_Mutation_p.R324W|NOS3_ENST00000467517.1_Missense_Mutation_p.R530W	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)		CGAGACCGGCCGGGCCCAGAG	0.647																																							0											0													42	45	44					7																	150698994		2203	4300	6503	SO:0001583	missense	0				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.1588C>T	7.37:g.150698994C>T	ENSP00000420215:p.Arg530Trp		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.R530W	ENST00000484524.1	37	c.1588	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088506	0.76756	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.000000	0.49916	D	0.000138	T	0.82098	0.4963	L	0.58810	1.83	0.45307	D	0.998305	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.76071	0.983;0.987;0.987;0.985;0.978	D	0.83410	0.0027	10	0.87932	D	0	-35.7207	10.9263	0.47193	0.1872:0.8128:0.0:0.0	.	530;530;530;324;530	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	W	530;324;530;530	ENSP00000297494:R530W;ENSP00000417143:R324W;ENSP00000420215:R530W;ENSP00000420551:R530W	ENSP00000297494:R530W	R	+	1	2	NOS3	150329927	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.005000	0.57075	2.376000	0.81061	0.655000	0.94253	CGG	0	pfam_Flavodoxin/NO_synth,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin		0.647	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	protein_coding	OTTHUMT00000351550.1	34	92	0	0.00	0	0	C	NM_000603	0	0		150698994	1	no_errors	ENST00000297494	ensembl	human	known	74_37	missense	17	55	37.04	26.67	10	20	SNP	1	T	T	150698994	C	T	150698994	3	4	97	1	0	0	0	0	1	0	0	0	10544	643	23	2	1634	2	NOS3	7	150698994	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	8239203	150698994	8439669	323	1522											
HTR5A	3361	genome.wustl.edu	37	chr7	154863229	154863229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccgtgttctccaccgtagGcgccttctacctgccgctct	3	11	9	18	5	3	0	0	0	3	0	4	0	3	0	6	1	2	3	6	1	2	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:154863229G>A	ENST00000287907.2	+	1	1196	c.620G>A	c.(619-621)gGc>gAc	p.G207D	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	207					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)	TCCACCGTAGGCGCCTTCTAC	0.607																																							0											0													77	68	71					7																	154863229		2203	4300	6503	SO:0001583	missense	0				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.620G>A	7.37:g.154863229G>A	ENSP00000287907:p.Gly207Asp		Q2M2D2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt	p.G207D	ENST00000287907.2	37	c.620	CCDS5936.1	7	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879042	0.91740	.	.	ENSG00000157219	ENST00000287907	T	0.37915	1.17	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.048625	0.85682	D	0.000000	T	0.70011	0.3175	M	0.94021	3.485	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.79308	-0.1857	10	0.66056	D	0.02	.	18.0029	0.89202	0.0:0.0:1.0:0.0	.	207	P47898	5HT5A_HUMAN	D	207	ENSP00000287907:G207D	ENSP00000287907:G207D	G	+	2	0	HTR5A	154494162	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.309000	0.78937	2.489000	0.83994	0.655000	0.94253	GGC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt		0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR5A	protein_coding	OTTHUMT00000322240.1	34	102	0	0.00	0	0	G	NM_024012	0	0		154863229	1	no_errors	ENST00000287907	ensembl	human	known	74_37	missense	16	94	32	27.48	8	36	SNP	1	A	A	154863229	G	A	154863229	3	1	97	1	0	0	0	0	1	0	0	0	7450	1203	42	3	622	3	HTR5A	7	154863229	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	4164235	154863229	4275434	324	1523											
VIPR2	7434	genome.wustl.edu	37	chr7	158824739	158824739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcgggataagcaggaGcgtggacttggccagcctcc	10	5	15	11	2	0	0	0	0	0	0	1	4	1	3	3	4	5	1	3	4	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:158824739G>A	ENST00000262178.2	-	11	1176	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	VIPR2_ENST00000402066.1_Missense_Mutation_p.L472F|VIPR2_ENST00000377633.3_Missense_Mutation_p.L315F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	331					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ATAAGCAGGAGCGTGGACTTG	0.592																																					Pancreas(154;1876 1931 2329 17914 20079)		0											0													79	77	78					7																	158824739		2203	4300	6503	SO:0001583	missense	0			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.991C>T	7.37:g.158824739G>A	ENSP00000262178:p.Leu331Phe		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	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_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.L331F	ENST00000262178.2	37	c.991	CCDS5950.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966160	0.74131	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.53423	0.62;0.62;0.62	5.22	3.39	0.38822	GPCR, family 2-like (1);	0.000000	0.41500	D	0.000870	T	0.70439	0.3224	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74621	-0.3604	9	.	.	.	.	9.2584	0.37597	0.177:0.0:0.823:0.0	.	331	P41587	VIPR2_HUMAN	F	331;315;472	ENSP00000262178:L331F;ENSP00000366860:L315F;ENSP00000384497:L472F	.	L	-	1	0	VIPR2	158517500	1.000000	0.71417	0.860000	0.33809	0.679000	0.39708	3.679000	0.54634	1.342000	0.45619	0.491000	0.48974	CTC	0	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.592	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR2	protein_coding	OTTHUMT00000322675.1	17	97	0	0.00	0	0	G	NM_003382	0	0		158824739	-1	no_errors	ENST00000262178	ensembl	human	known	74_37	missense	19	75	24	25.00	6	25	SNP	0.992	A	A	158824739	G	A	158824739	3	1	97	1	0	0	0	0	1	0	0	0	17167	971	34	3	337	3	VIPR2	7	158824739	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3961510	158824739	313924	325	1524											
RP1L1	94137	genome.wustl.edu	37	chr8	10467550	10467552	+	In_Frame_Del	DEL	TCT	TCT	-																															caatttcctctaactgcgccTcttcttcttgctgtccttct																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TCT	TCT	TCT	-	TCT	TCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:10467550_10467552delTCT	ENST00000382483.3	-	4	4279_4281	c.4056_4058delAGA	c.(4054-4059)gaagag>gag	p.1352_1353EE>E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1382	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).		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)		taactgcgcctcttcttcttgct	0.483																																							0											0																																										SO:0001651	inframe_deletion	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4056_4058delAGA	8.37:g.10467556_10467558delTCT	ENSP00000371923:p.Glu1353del		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E1353in_frame_del	ENST00000382483.3	37	c.4058_4056	CCDS43708.1	8																																																																																			0	NULL		0.483	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	86	191	0	0.00	0	0	TCT		0	0		10467552	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	in_frame_del	55	216	16.67	18.49	11	49	DEL	0.000:0.000:0.000	0	-	10467552	TCT	-	10467550	7	5	97	1	0	1	0	1	0	0	0	0	13533	1551	54	0	3148	0	RP1L1	8	10467550	In_Frame_Del	DEL	TCT	TCGA-ZB-A966-01A-11D-A428-09		10467550	135896472	326	1525											
XKR6	286046	genome.wustl.edu	37	chr8	10756220	10756220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcaccagtgaaccaccaCgaagatcccaaaatagagct	15	4	9	13	2	0	3	0	1	0	2	1	4	1	3	4	1	2	2	4	1	5	1	rs377188885		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:10756220C>T	ENST00000416569.2	-	3	1194	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	XKR6_ENST00000304437.2_Missense_Mutation_p.V111M	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	390						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGAACCACCACGAAGATCCCA	0.532																																							0											0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	96	90	92		1168	3.3	1	8		92	0,8600		0,0,4300	no	missense	XKR6	NM_173683.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	390/642	10756220	1,13005	2203	4300	6503	SO:0001583	missense	0			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 7", "chromosome 8 open reading frame 21", "X Kell blood group precursor-related family, member 6", "chromosome 8 open reading frame 5"	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1168G>A	8.37:g.10756220C>T	ENSP00000416707:p.Val390Met		Q8TBA0	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.V390M	ENST00000416569.2	37	c.1168	CCDS5978.2	8	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040689	0.55003	2.27E-4	0.0	ENSG00000171044	ENST00000304437;ENST00000416569	T;T	0.64618	-0.11;-0.11	5.23	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	L	0.47716	1.5	0.47547	D	0.999456	D	0.55800	0.973	P	0.51945	0.685	T	0.65063	-0.6259	10	0.46703	T	0.11	-1.9492	12.9284	0.58272	0.2941:0.7059:0.0:0.0	.	390	Q5GH73	XKR6_HUMAN	M	111;390	ENSP00000307120:V111M;ENSP00000416707:V390M	ENSP00000307120:V111M	V	-	1	0	XKR6	10793630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.940000	0.56599	1.164000	0.42652	0.561000	0.74099	GTG	0	pfam_Transport_prot_XK		0.532	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR6	protein_coding	OTTHUMT00000383958.1	29	125	0	0.00	0	0	C	NM_173683	rs377188885	C->T		10756220	-1	no_errors	ENST00000416569	ensembl	human	known	74_37	missense	17	101	41.38	33.99	12	52	SNP	1	T	T	10756220	C	T	10756220	3	4	97	1	0	0	0	0	1	0	0	0	17432	536	19	1	761	1	XKR6	8	10756220	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	288670	10756220	135607802	327	1526											
SLC7A2	6542	genome.wustl.edu	37	chr8	17402081	17402081	+	Frame_Shift_Del	DEL	T	T	-																															ggtcttgcagaatatcccgaTttttttgctgtgtgccttat																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:17402081delT	ENST00000494857.1	+	4	716	c.498delT	c.(496-498)gatfs	p.D166fs	SLC7A2_ENST00000470360.1_Frame_Shift_Del_p.D206fs|SLC7A2_ENST00000398090.3_Frame_Shift_Del_p.D206fs|SLC7A2_ENST00000522656.1_Frame_Shift_Del_p.D166fs|SLC7A2_ENST00000004531.10_Frame_Shift_Del_p.D206fs	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	166					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)	AATATCCCGATTTTTTTGCTG	0.398																																							0											0													106	103	104					8																	17402081		2203	4300	6503	SO:0001589	frameshift_variant	0			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.498delT	8.37:g.17402081delT	ENSP00000419140:p.Asp166fs		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Frame_Shift_Del	DEL	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.F208fs	ENST00000494857.1	37	c.618	CCDS34852.1	8																																																																																			0	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease		0.398	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	protein_coding	OTTHUMT00000253367.3	105	211	0	0.00	0	0	T	NM_003046	0	0		17402081	1	no_errors	ENST00000004531	ensembl	human	known	74_37	frame_shift_del	76	188	18.28	23.27	17	57	DEL	0.996	0	-	17402081	T	-	17402081	7	5	97	1	0	1	0	1	0	0	0	0	14697	1490	52	0	628	0	SLC7A2	8	17402081	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	6645861	17402081	128961941	328	1527											
PSD3	23362	genome.wustl.edu	37	chr8	18413785	18413785	+	Frame_Shift_Del	DEL	G	G	-																															ttggctttgaccttcttgtcGgggggatatgagcggtgctc																								rs28651847	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:18413785delG	ENST00000327040.8	-	15	2964	c.2862delC	c.(2860-2862)cccfs	p.P954fs	PSD3_ENST00000523619.1_Frame_Shift_Del_p.P889fs|PSD3_ENST00000428502.2_Frame_Shift_Del_p.P283fs|PSD3_ENST00000286485.8_Frame_Shift_Del_p.P420fs|PSD3_ENST00000440756.2_Frame_Shift_Del_p.P956fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	955					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)		CCTTCTTGTCGGGGGGATATG	0.483																																							0											0													202	197	199					8																	18413785		2203	4300	6503	SO:0001589	frameshift_variant	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2862delC	8.37:g.18413785delG	ENSP00000324127:p.Pro954fs		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	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	p.D957fs	ENST00000327040.8	37	c.2868	CCDS43720.1	8																																																																																			0	NULL		0.483	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	protein_coding	OTTHUMT00000374867.1	65	186	0	0.00	0	0	G	NM_015310	0	0		18413785	-1	no_errors	ENST00000440756	ensembl	human	known	74_37	frame_shift_del	33	166	28.26	28.14	13	65	DEL	0	0	-	18413785	G	-	18413785	7	5	97	1	0	1	0	1	0	0	0	0	12648	1103	39	0	289	0	PSD3	8	18413785	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	1011704	18413785	127950237	329	1528											
CSGALNACT1	55790	genome.wustl.edu	37	chr8	19277874	19277874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgtattcagcctacacGtattgaggaattcagatgtg	10	13	11	7	1	2	2	2	1	0	1	2	3	2	3	1	1	2	3	1	1	4	6	rs34492215	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:19277874G>A	ENST00000454498.2	-	7	2122	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.T370M|CSGALNACT1_ENST00000518542.1_5'Flank|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.T370M|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.T370M|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.T370M	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	370					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)	p.T370M(1)		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)		CAGCCTACACGTATTGAGGAA	0.527													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		20721	0		0	False		,,,				2504	0						0.9996,0.0003994											1	Substitution - Missense(1)	endometrium(1)						G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	134	116	122		1109,1109	5.2	0.5	8	dbSNP_126	122	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CSGALNACT1	NM_001130518.1,NM_018371.4	81,81	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	370/533,370/533	19277874	3,13003	2203	4300	6503	SO:0001583	missense	0			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.1109C>T	8.37:g.19277874G>A	ENSP00000411816:p.Thr370Met		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.T370M	ENST00000454498.2	37	c.1109	CCDS6010.1	8	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299775	0.81136	4.54E-4	1.16E-4	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.16	5.16	0.70880	.	0.149109	0.64402	D	0.000012	T	0.39200	0.1069	M	0.65975	2.015	0.58432	D	0.999995	D	0.65815	0.995	P	0.62382	0.901	T	0.21586	-1.0241	10	0.87932	D	0	-27.4645	17.2057	0.86917	0.0:0.0:1.0:0.0	rs34492215	370	Q8TDX6	CGAT1_HUMAN	M	370	ENSP00000411816:T370M;ENSP00000330805:T370M;ENSP00000310891:T370M;ENSP00000429809:T370M;ENSP00000442155:T370M	ENSP00000310891:T370M	T	-	2	0	CSGALNACT1	19322154	1.000000	0.71417	0.521000	0.27850	0.821000	0.46438	7.633000	0.83260	2.414000	0.81942	0.561000	0.74099	ACG	0	pfam_Chond_GalNAc		0.527	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	protein_coding	OTTHUMT00000375204.1	55	122	0	0.00	0	0	G	NM_018371	rs34492215	G->A		19277874	-1	no_errors	ENST00000311540	ensembl	human	known	74_37	missense	37	123	27.45	20.65	14	32	SNP	0.97	A	A	19277874	G	A	19277874	3	1	97	1	0	0	0	0	1	0	0	0	3938	1145	40	1	505	1	CSGALNACT1	8	19277874	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	864089	19277874	127086148	330	1529											
DOCK5	80005	genome.wustl.edu	37	chr8	25257429	25257429	+	Frame_Shift_Del	DEL	T	T	-																															gcatatgcttttttttaggcTttttttacagaaaagtactt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:25257429delT	ENST00000276440.7	+	46	4751	c.4707delT	c.(4705-4707)gctfs	p.A1569fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1569	DHR-2.				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)		TTTTTTAGGCTTTTTTTACAG	0.433																																					Pancreas(145;34 1887 3271 10937 30165)		0											0													71	67	68					8																	25257429		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4707delT	8.37:g.25257429delT	ENSP00000276440:p.Ala1569fs		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.F1571fs	ENST00000276440.7	37	c.4707	CCDS6047.1	8																																																																																			0	pfam_DOCK_C		0.433	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	protein_coding	OTTHUMT00000254955.2	37	224	0	0.00	0	0	T	NM_024940	0	0		25257429	1	no_errors	ENST00000276440	ensembl	human	known	74_37	frame_shift_del	26	175	29.73	23.58	11	54	DEL	0.166	0	-	25257429	T	-	25257429	7	5	97	1	0	1	0	1	0	0	0	0	4690	1596	56	0	4889	0	DOCK5	8	25257429	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	5979555	25257429	121106593	331	1530											
PPP2R2A	5520	genome.wustl.edu	37	chr8	26227708	26227708	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgacagaaacacaaagCgagacataaccctagaagca	18	6	8	9	1	0	4	0	1	0	3	0	5	0	4	1	0	4	2	1	0	5	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:26227708C>T	ENST00000380737.3	+	10	1452	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	PPP2R2A_ENST00000315985.7_Nonsense_Mutation_p.R385*	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	375					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)		AAACACAAAGCGAGACATAAC	0.413																																							0											0													78	73	75					8																	26227708		2203	4300	6503	SO:0001587	stop_gained	0			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.1123C>T	8.37:g.26227708C>T	ENSP00000370113:p.Arg375*		B2RBU8|B4E1T7|P50409|Q00007	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.R375*	ENST00000380737.3	37	c.1123	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641997	0.87859	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	.	.	.	5.11	5.11	0.69529	.	0.173062	0.39475	U	0.001355	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.06	19.0939	0.93242	0.0:1.0:0.0:0.0	.	.	.	.	X	375;154;385	.	ENSP00000325074:R385X	R	+	1	2	PPP2R2A	26283625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.421000	0.66447	2.816000	0.96949	0.561000	0.74099	CGA	0	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.413	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	protein_coding	OTTHUMT00000375954.2	58	263	0	0.00	0	0	C	NM_002717	0	0		26227708	1	no_errors	ENST00000380737	ensembl	human	known	74_37	nonsense	54	219	19.4	28.90	13	89	SNP	1	T	T	26227708	C	T	26227708	4	4	97	1	0	0	0	0	0	1	0	0	12384	760	27	1	1202	1	PPP2R2A	8	26227708	Nonsense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	970279	26227708	120136314	332	1531											
PPP2R2A	5520	genome.wustl.edu	37	chr8	26227751	26227751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggaaaacaataagcctcGcacagttctgaagcctcgca	13	6	10	12	3	1	1	0	1	1	0	3	2	1	2	2	1	3	3	2	1	5	2	rs369862992		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:26227751G>A	ENST00000380737.3	+	10	1495	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.R399H	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	389					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)	p.R389H(1)		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)		AATAAGCCTCGCACAGTTCTG	0.413																																							0											1	Substitution - Missense(1)	large_intestine(1)						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78	75	76		1196,1166	4.4	1	8		76	0,8600		0,0,4300	no	missense,missense	PPP2R2A	NM_001177591.1,NM_002717.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	399/458,389/448	26227751	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1166G>A	8.37:g.26227751G>A	ENSP00000370113:p.Arg389His		B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.R389H	ENST00000380737.3	37	c.1166	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345085	0.24426	2.27E-4	0.0	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.46451	1.46;0.87;1.46	5.25	4.38	0.52667	WD40 repeat-like-containing domain (1);	0.267600	0.30392	U	0.009723	T	0.36468	0.0968	M	0.62154	1.92	0.40672	D	0.982222	B;B;P	0.43607	0.002;0.005;0.812	B;B;B	0.31812	0.001;0.005;0.136	T	0.42344	-0.9457	10	0.42905	T	0.14	-31.0147	14.2581	0.66065	0.0714:0.0:0.9285:0.0	.	399;389;390	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	H	389;168;399	ENSP00000370113:R389H;ENSP00000430320:R168H;ENSP00000325074:R399H	ENSP00000325074:R399H	R	+	2	0	PPP2R2A	26283668	0.996000	0.38824	1.000000	0.80357	0.865000	0.49528	4.218000	0.58554	1.587000	0.49959	-0.136000	0.14681	CGC	0	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.413	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	protein_coding	OTTHUMT00000375954.2	86	223	0	0.45	0	1	G	NM_002717	rs369862992	G->A		26227751	1	no_errors	ENST00000380737	ensembl	human	known	74_37	missense	60	171	25.93	34.48	21	90	SNP	0.999	A	A	26227751	G	A	26227751	3	1	97	1	0	0	0	0	1	0	0	0	12384	1087	38	1	1245	1	PPP2R2A	8	26227751	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	43	26227751	120136271	333	1532											
INTS9	55756	genome.wustl.edu	37	chr8	28645389	28645392	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															ctggaagatacaccttactcTgtttgttgtgacaaagccta																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TGTT	TGTT	TGTT	-	TGTT	TGTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:28645389_28645392delTGTT	ENST00000521022.1	-	11	1133_1136	c.1052_1055delAACA	c.(1051-1056)aaacagfs	p.KQ351fs	INTS9_ENST00000521777.1_Frame_Shift_Del_p.KQ327fs|INTS9_ENST00000416984.2_Frame_Shift_Del_p.KQ330fs|INTS9_ENST00000397363.4_Frame_Shift_Del_p.KQ245fs	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	351					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)		CACCTTACTCTGTTTGTTGTGACA	0.436																																							0											0																																										SO:0001589	frameshift_variant	0			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.1052_1055delAACA	8.37:g.28645393_28645396delTGTT	ENSP00000429065:p.Lys351fs		B7Z560|B7Z6M5|O00224|Q8TB16	Frame_Shift_Del	DEL	pfam_Beta_Casp	p.K351fs	ENST00000521022.1	37	c.1055_1052	CCDS34873.1	8																																																																																			0	pfam_Beta_Casp		0.436	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS9	protein_coding	OTTHUMT00000376846.1	45	210	0	0.00	0	0	TGTT	NM_018250	0	0		28645392	-1	no_errors	ENST00000521022	ensembl	human	known	74_37	frame_shift_del	35	200	14.63	22.48	6	58	DEL	1.000:1.000:0.993:1.000	0	-	28645392	TGTT	-	28645389	7	5	97	1	0	1	0	1	0	0	0	0	7785	1580	55	0	949	0	INTS9	8	28645389	Frame_Shift_Del	DEL	TGTT	TCGA-ZB-A966-01A-11D-A428-09	2417638	28645389	117718633	334	1533											
NRG1	3084	genome.wustl.edu	37	chr8	32621338	32621338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccaagctcccccaaatcGcccccttcggaaatgtctcc	9	7	6	19	3	1	0	0	0	1	0	5	1	2	1	6	1	1	1	6	1	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:32621338G>A	ENST00000405005.3	+	12	1341	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S	RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000338921.4_Silent_p.S455S|NRG1_ENST00000539990.1_Silent_p.S290S|NRG1_ENST00000356819.4_Silent_p.S452S|NRG1_ENST00000287845.5_Silent_p.S418S|NRG1_ENST00000519301.1_Silent_p.S397S|NRG1_ENST00000287842.3_Silent_p.S444S|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	447					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCCCCAAATCGCCCCCTTCGG	0.557																																							0											0													108	106	106					8																	32621338		2203	4300	6503	SO:0001819	synonymous_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1341G>A	8.37:g.32621338G>A			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.S455	ENST00000405005.3	37	c.1365	CCDS6085.1	8																																																																																			0	pfam_Neuregulin_1_C		0.557	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	protein_coding	OTTHUMT00000472504.1	36	189	0	0.00	0	0	G		0	0		32621338	1	no_errors	ENST00000338921	ensembl	human	known	74_37	silent	23	152	39.47	34.20	15	79	SNP	0.355	A	A	32621338	G	A	32621338	2	1	97	1	0	0	0	0	0	0	0	1	10647	1074	38	1		1	NRG1	8	32621338	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3975949	32621338	113742684	335	1534											
ERLIN2	11160	genome.wustl.edu	37	chr8	37611633	37611633	+	Stop_Codon_Del	DEL	A	A	-																															acggccactaaggagaattgAaaaaaacttgatatgactgc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:37611633delA	ENST00000276461.5	+	0	1087				ERLIN2_ENST00000519638.1_Stop_Codon_Del	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2						cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGAGAATTGAAAAAAACTTG	0.438																																							0											0													57	57	57					8																	37611633		2203	4300	6503	SO:0001567	stop_retained_variant	0			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"chromosome 8 open reading frame 2", "SPFH domain family, member 2"	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	Exception_encountered	8.37:g.37611633delA			A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Frame_Shift_Del	DEL	pfam_Band_7,smart_Band_7	p.*340fs	ENST00000276461.5	37	c.1020	CCDS6095.1	8																																																																																			0	NULL		0.438	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN2	protein_coding	OTTHUMT00000376712.2	51	196	0	0.00	0	0	A	NM_007175	0	0		37611633	1	no_errors	ENST00000276461	ensembl	human	known	74_37	frame_shift_del	28	193	30	24.90	12	64	DEL	0.656	0	-	37611633	A	-	37611633	7	5	97	1	0	1	0	1	0	0	0	0	5233	259	9	0	1101	0	ERLIN2	8	37611633	Stop_Codon_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	4990295	37611633	108752389	336	1535											
IDO2	169355	genome.wustl.edu	37	chr8	39847306	39847306	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctccaagccctgcagCgactgagactgtctattcag	8	9	9	15	1	2	1	1	1	1	1	3	3	3	1	3	0	4	2	3	0	2	2	rs199869245	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:39847306C>T	ENST00000389060.4	+	7	616	c.616C>T	c.(616-618)Cga>Tga	p.R206*	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Nonsense_Mutation_p.R219*			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	206					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						AGCCCTGCAGCGACTGAGACT	0.537											OREG0018729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0015	0	5008	,	,		20339	0		0	False		,,,				2504	0						0.9996,0.0003994											0								C	stop/ARG	4,4032		0,4,2014	70	70	70		655	4.8	0.9	8		70	2,8390		0,2,4194	yes	stop-gained	IDO2	NM_194294.2		0,6,6208	TT,TC,CC		0.0238,0.0991,0.0483		219/421	39847306	6,12422	2018	4196	6214	SO:0001587	stop_gained	0			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.616C>T	8.37:g.39847306C>T	ENSP00000426447:p.Arg206*	889	A4UD41	Nonsense_Mutation	SNP	pfam_Indolamine_dOase	p.R219*	ENST00000389060.4	37	c.655		8	.	.	.	.	.	.	.	.	.	.	C	35	5.548107	0.96488	9.91E-4	2.38E-4	ENSG00000188676	ENST00000502986;ENST00000389060	.	.	.	5.67	4.78	0.61160	.	1.816400	0.02650	N	0.106267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5321	0.56122	0.0:0.8323:0.1677:0.0	.	.	.	.	X	219;206	.	.	R	+	1	2	IDO2	39966463	0.323000	0.24643	0.871000	0.34182	0.665000	0.39181	0.507000	0.22675	1.356000	0.45884	0.467000	0.42956	CGA	0	pfam_Indolamine_dOase		0.537	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	protein_coding	OTTHUMT00000372742.1	27	110	0	0.00	0	0	C	NM_194294	rs199869245	C->T		39847306	1	no_errors	ENST00000502986	ensembl	human	known	74_37	nonsense	18	106	30.77	23.02	8	32	SNP	0.947	T	T	39847306	C	T	39847306	4	4	97	1	0	0	0	0	0	1	0	0	7502	760	27	1	685	1	IDO2	8	39847306	Nonsense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2235673	39847306	106516716	337	1536											
PRKDC	5591	genome.wustl.edu	37	chr8	48805844	48805844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgggctgggccaggatGcccgagggctggccacagcc	6	4	19	12	1	0	0	0	0	0	0	0	2	0	1	4	6	2	2	4	6	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:48805844G>A	ENST00000314191.2	-	31	3758	c.3702C>T	c.(3700-3702)ggC>ggT	p.G1234G	PRKDC_ENST00000338368.3_Silent_p.G1234G|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1234					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)	GGGCCAGGATGCCCGAGGGCT	0.582								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)		0											0													29	31	30					8																	48805844		1905	4110	6015	SO:0001819	synonymous_variant	0				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.3702C>T	8.37:g.48805844G>A			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.G1234	ENST00000314191.2	37	c.3702		8																																																																																			0	NULL		0.582	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		94	25	0	0.00	0	0	G	NM_001081640	0	0		48805844	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	40	40	28.57	24.53	16	13	SNP	0.997	A	A	48805844	G	A	48805844	2	1	97	1	0	0	0	0	0	0	0	1	12521	1306	46	3		3	PRKDC	8	48805844	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	8958538	48805844	97558178	338	1537											
PRKDC	5591	genome.wustl.edu	37	chr8	48811087	48811087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgcttcttttcaatgatgCggcataggtgatcaatggca	10	13	10	8	1	3	2	2	2	1	0	3	2	3	2	0	3	2	3	0	3	3	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:48811087C>T	ENST00000314191.2	-	29	3463	c.3407G>A	c.(3406-3408)cGc>cAc	p.R1136H	PRKDC_ENST00000338368.3_Missense_Mutation_p.R1136H|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1136			R -> H (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.R1136H(3)		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)	TTCAATGATGCGGCATAGGTG	0.378								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)		0											3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)											86	82	83					8																	48811087		1871	4109	5980	SO:0001583	missense	0				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.3407G>A	8.37:g.48811087C>T	ENSP00000313420:p.Arg1136His		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.R1136H	ENST00000314191.2	37	c.3407		8	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194656	0.58017	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.66815	-0.23;-0.23	5.46	1.67	0.24075	Armadillo-like helical (1);Armadillo-type fold (1);	0.186759	0.45606	N	0.000344	T	0.51193	0.1660	.	.	.	0.51012	D	0.999902	B;B	0.32160	0.239;0.358	B;B	0.25884	0.064;0.064	T	0.42899	-0.9424	9	0.66056	D	0.02	.	6.8369	0.23941	0.1251:0.6792:0.0:0.1957	.	1136;1136	E7EUY0;P78527	.;PRKDC_HUMAN	H	1136	ENSP00000313420:R1136H;ENSP00000345182:R1136H	ENSP00000313420:R1136H	R	-	2	0	PRKDC	48973640	1.000000	0.71417	0.702000	0.30337	0.973000	0.67179	2.096000	0.41738	0.028000	0.15324	0.557000	0.71058	CGC	0	superfamily_ARM-type_fold		0.378	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		50	201	0	0.00	0	0	C	NM_001081640	0	0		48811087	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	28	169	28.21	28.09	11	66	SNP	1	T	T	48811087	C	T	48811087	3	4	97	1	0	0	0	0	1	0	0	0	12521	768	27	1	9210	1	PRKDC	8	48811087	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	5243	48811087	97552935	339	1538											
C8orf46	254778	genome.wustl.edu	37	chr8	67422332	67422332	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgttcaacattgcagtGgggatttctgaacccaaaac	11	11	8	11	0	3	1	1	1	2	0	3	2	3	2	2	2	4	2	2	2	4	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:67422332G>T	ENST00000305454.3	+	4	723	c.282G>T	c.(280-282)gtG>gtT	p.V94V	C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000521495.1_Splice_Site_p.V94V|C8orf46_ENST00000480005.1_Splice_Site_p.V94V|C8orf46_ENST00000522977.1_Intron	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	94										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ACATTGCAGTGGGGATTTCTG	0.438																																							0											0													149	131	137					8																	67422332		2203	4300	6503	SO:0001630	splice_region_variant	0			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.281-1G>T	8.37:g.67422332G>T			B2RDC3|B4DFU4|C9J814|C9JCS3	Silent	SNP	NULL	p.V94	ENST00000305454.3	37	c.282	CCDS6191.2	8																																																																																			0	NULL		0.438	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf46	protein_coding	OTTHUMT00000347010.1	56	237	0	0.84	0	2	G	NM_152765	0	0	Silent	67422332	1	no_errors	ENST00000305454	ensembl	human	known	74_37	silent	54	196	26.03	33.56	19	99	SNP	0.992	T	T	67422332	G	T	67422332	5	4	97	1	0	0	0	0	0	0	1	0	2431	1362	47	5	296	5	C8orf46	8	67422332	Splice_Site	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	18611245	67422332	78941690	340	1539											
ZFHX4	79776	genome.wustl.edu	37	chr8	77775727	77775727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccagcttcctttataggCggacagttcttgccatactt	8	13	8	12	1	1	0	0	0	1	0	2	2	2	1	3	2	3	2	3	2	3	8			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:77775727C>T	ENST00000521891.2	+	11	10225	c.9777C>T	c.(9775-9777)ggC>ggT	p.G3259G	ZFHX4_ENST00000455469.2_Silent_p.G3214G|ZFHX4_ENST00000518282.1_Silent_p.G3233G|ZFHX4_ENST00000050961.6_Silent_p.G3210G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3210					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)			CCTTTATAGGCGGACAGTTCT	0.478										HNSCC(33;0.089)																													0											0													161	153	156					8																	77775727		1898	4119	6017	SO:0001819	synonymous_variant	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9777C>T	8.37:g.77775727C>T			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.G3259	ENST00000521891.2	37	c.9777	CCDS47878.2	8																																																																																			0	NULL		0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	36	245	0	0.00	0	0	C	NM_024721	0	0		77775727	1	no_errors	ENST00000521891	ensembl	human	known	74_37	silent	23	217	17.86	25.43	5	74	SNP	0.998	T	T	77775727	C	T	77775727	2	4	97	1	0	0	0	0	0	0	0	1	17632	755	27	1		1	ZFHX4	8	77775727	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	10353395	77775727	68588295	341	1540											
SLC26A7	115111	genome.wustl.edu	37	chr8	92352747	92352747	+	Frame_Shift_Del	DEL	A	A	-																															ctcttgctcaaggatctgccAaaaaattcaaatattcaatt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:92352747delA	ENST00000276609.3	+	8	1233	c.994delA	c.(994-996)aaafs	p.K333fs	SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.K333fs|SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.K333fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.K333fs*20(1)		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)			AGGATCTGCCAAAAAATTCAA	0.502																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											97	90	92					8																	92352747		2203	4300	6503	SO:0001589	frameshift_variant	0			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.994delA	8.37:g.92352747delA	ENSP00000276609:p.Lys333fs			Frame_Shift_Del	DEL	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.K333fs	ENST00000276609.3	37	c.994	CCDS6254.1	8																																																																																			0	pfam_Sulph_transpt		0.502	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	protein_coding	OTTHUMT00000377011.1	43	162	0	0.00	0	0	A		0	0		92352747	1	no_errors	ENST00000309536	ensembl	human	known	74_37	frame_shift_del	30	157	23.08	26.98	9	58	DEL	1	0	-	92352747	A	-	92352747	7	5	97	1	0	1	0	1	0	0	0	0	14522	131	5	0	1020	0	SLC26A7	8	92352747	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	14577020	92352747	54011275	342	1541											
RAD54B	25788	genome.wustl.edu	37	chr8	95390551	95390552	+	Frame_Shift_Ins	INS	-	-	C																															cttggtgaggtcgacaactgINSccccacaaagaccttgctta																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:95390551_95390552insC	ENST00000336148.5	-	14	2495_2496	c.2371_2372insG	c.(2371-2373)gcafs	p.A791fs		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	791	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)			GTCGACAACTGCCCCACAAAGA	0.337								Direct reversal of damage;Homologous recombination																															0											0																																										SO:0001589	frameshift_variant	0			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.2372dupG	8.37:g.95390555_95390555dupC	ENSP00000336606:p.Ala791fs		F6WBS8	Frame_Shift_Ins	INS	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.A791fs	ENST00000336148.5	37	c.2372_2371	CCDS6262.1	8																																																																																			0	pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C		0.337	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	protein_coding	OTTHUMT00000257806.3	35	249	0	0.00	0	0	0	NM_012415	0	0		95390552	-1	no_errors	ENST00000336148	ensembl	human	known	74_37	frame_shift_ins	39	187	18.75	32.00	9	88	INS	1.000:1.000	C	C	95390552	-	C	95390551	7	5	97	1	0	1	1	0	0	0	0	0	12992	1319	46	0	368	0	RAD54B	8	95390551	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	3037804	95390551	50973471	343	1542											
KCNS2	3788	genome.wustl.edu	37	chr8	99440317	99440317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcgcacacgctgctgcGcttccccgagacgcgcctgg	4	6	13	18	7	0	1	0	0	0	1	2	2	1	1	3	1	2	5	3	1	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:99440317G>A	ENST00000287042.4	+	2	460	c.110G>A	c.(109-111)cGc>cAc	p.R37H	KCNS2_ENST00000521839.1_Missense_Mutation_p.R37H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	37					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)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACGCTGCTGCGCTTCCCCGAG	0.657																																					Pancreas(138;844 2489 9202 24627)		0											0													45	41	42					8																	99440317		2203	4300	6503	SO:0001583	missense	0			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.110G>A	8.37:g.99440317G>A	ENSP00000287042:p.Arg37His		A8KAN1	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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2	p.R37H	ENST00000287042.4	37	c.110	CCDS6279.1	8	.	.	.	.	.	.	.	.	.	.	g	22.4	4.290954	0.80914	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.48522	0.81;0.81	5.4	5.4	0.78164	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.137776	0.49305	D	0.000157	T	0.73473	0.3591	M	0.87038	2.855	0.44142	D	0.996938	D	0.89917	1.0	D	0.68353	0.957	T	0.78755	-0.2080	10	0.87932	D	0	.	18.7928	0.91982	0.0:0.0:1.0:0.0	.	37	Q9ULS6	KCNS2_HUMAN	H	37	ENSP00000287042:R37H;ENSP00000430712:R37H	ENSP00000287042:R37H	R	+	2	0	KCNS2	99509493	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.755000	0.74914	2.523000	0.85059	0.558000	0.71614	CGC	0	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9		0.657	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS2	protein_coding	OTTHUMT00000103134.1	36	25	0	0.00	0	0	G	NM_020697	0	0		99440317	1	no_errors	ENST00000287042	ensembl	human	known	74_37	missense	17	22	34.62	21.43	9	6	SNP	1	A	A	99440317	G	A	99440317	3	1	97	1	0	0	0	0	1	0	0	0	8089	1087	38	1	112	1	KCNS2	8	99440317	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	4049766	99440317	46923705	344	1543											
FBXO43	286151	genome.wustl.edu	37	chr8	101154178	101154178	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtgctcatagagtaatgTtgggcctttttctttctttc	6	18	10	7	0	3	1	1	0	2	1	4	1	3	1	1	2	1	3	1	2	2	7			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:101154178T>G	ENST00000428847.2	-	2	620	c.304A>C	c.(304-306)Aca>Cca	p.T102P		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	102					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TAGAGTAATGTTGGGCCTTTT	0.353																																							0											0													84	78	80					8																	101154178		1811	4071	5882	SO:0001583	missense	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.304A>C	8.37:g.101154178T>G	ENSP00000403293:p.Thr102Pro			Missense_Mutation	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.T102P	ENST00000428847.2	37	c.304	CCDS47904.1	8	.	.	.	.	.	.	.	.	.	.	T	6.996	0.553959	0.13374	.	.	ENSG00000156509	ENST00000428847	T	0.30182	1.54	5.12	-10.2	0.00374	.	1.855210	0.01854	N	0.036163	T	0.21550	0.0519	L	0.51422	1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17379	-1.0371	10	0.52906	T	0.07	2.2534	2.9405	0.05829	0.1468:0.3888:0.2816:0.1827	.	68;102	C9J908;Q4G163	.;FBX43_HUMAN	P	102	ENSP00000403293:T102P	ENSP00000403293:T102P	T	-	1	0	FBXO43	101223354	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	-0.844000	0.04345	-1.892000	0.01108	-1.371000	0.01190	ACA	0	NULL		0.353	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	protein_coding	OTTHUMT00000380380.1	53	151	0	0.00	0	0	T	XM_209918	0	0		101154178	-1	no_errors	ENST00000428847	ensembl	human	known	74_37	missense	38	143	28.3	31.10	15	65	SNP	0	G	G	101154178	T	G	101154178	3	3	97	1	0	0	0	0	1	0	0	0	5752	1725	60	5	1838	5	FBXO43	8	101154178	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	1713861	101154178	45209844	345	1544											
SPAG1	6674	genome.wustl.edu	37	chr8	101232550	101232550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaaacctcttctgaggCgggcgatggcctatgaaact	10	10	11	10	2	2	3	0	3	2	0	2	4	2	3	2	3	2	0	2	3	4	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:101232550C>T	ENST00000388798.2	+	13	1770	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	SPAG1_ENST00000523302.1_Intron|SPAG1_ENST00000251809.3_Missense_Mutation_p.R527W	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	527					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCTTCTGAGGCGGGCGATGGC	0.398																																							0											0													130	122	125					8																	101232550		2203	4300	6503	SO:0001583	missense	0			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"Tetratricopeptide (TTC) repeat domain containing"	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1579C>T	8.37:g.101232550C>T	ENSP00000373450:p.Arg527Trp		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R527W	ENST00000388798.2	37	c.1579	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218878	0.79464	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	T;T	0.68025	-0.3;-0.3	5.45	4.55	0.56014	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88461	0.3055	10	0.72032	D	0.01	-10.9	14.9957	0.71431	0.1438:0.8562:0.0:0.0	.	527	Q07617	SPAG1_HUMAN	W	527	ENSP00000251809:R527W;ENSP00000373450:R527W	ENSP00000251809:R527W	R	+	1	2	SPAG1	101301726	0.957000	0.32711	0.971000	0.41717	0.768000	0.43524	2.159000	0.42339	1.248000	0.43934	0.655000	0.94253	CGG	0	smart_TPR_repeat,pfscan_TPR-contain_dom		0.398	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	protein_coding	OTTHUMT00000379853.2	99	271	0	0.36	0	1	C	NM_172218	0	0		101232550	1	no_errors	ENST00000251809	ensembl	human	known	74_37	missense	52	228	35	31.12	28	103	SNP	1	T	T	101232550	C	T	101232550	3	4	97	1	0	0	0	0	1	0	0	0	14975	759	27	1	1625	1	SPAG1	8	101232550	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	78372	101232550	45131472	346	1545											
DPYS	1807	genome.wustl.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-																															cctgtgaaacccaccacgccTttttcccatattacggacat																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																							0											0													179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	0			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs			Frame_Shift_Del	DEL	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.G363fs	ENST00000351513.2	37	c.1086	CCDS6302.1	8																																																																																			0	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	protein_coding	OTTHUMT00000380814.1	96	216	1.03	0.92	1	2	T	NM_001385	0	0		105440214	-1	no_errors	ENST00000351513	ensembl	human	known	74_37	frame_shift_del	53	202	28.38	29.37	21	84	DEL	1	0	-	105440214	T	-	105440214	7	5	97	1	0	1	0	1	0	0	0	0	4746	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	4207664	105440214	40923808	347	1546											
UTP23	84294	genome.wustl.edu	37	chr8	117782507	117782507	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcacaaaaatgccaagttCgaaattgtcctcatttcaag	14	12	6	9	1	2	0	2	0	0	0	4	1	3	0	2	0	2	2	2	0	5	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:117782507C>T	ENST00000309822.2	+	2	366	c.265C>T	c.(265-267)Cga>Tga	p.R89*	UTP23_ENST00000520733.1_5'UTR|UTP23_ENST00000357148.3_Nonsense_Mutation_p.R89*|UTP23_ENST00000517820.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	89					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						ATGCCAAGTTCGAAATTGTCC	0.378																																							0											0													120	110	114					8																	117782507		2203	4300	6503	SO:0001587	stop_gained	0				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.265C>T	8.37:g.117782507C>T	ENSP00000308332:p.Arg89*		B2RE25|Q96NJ8	Nonsense_Mutation	SNP	pfam_Fcf1/Utp23	p.R89*	ENST00000309822.2	37	c.265	CCDS6320.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.278129	0.97435	.	.	ENSG00000147679	ENST00000309822;ENST00000357148;ENST00000517814	.	.	.	5.9	5.02	0.67125	.	0.107041	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0095	14.1616	0.65450	0.2726:0.7274:0.0:0.0	.	.	.	.	X	89	.	ENSP00000308332:R89X	R	+	1	2	UTP23	117851688	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.669000	0.37492	1.478000	0.48253	0.650000	0.86243	CGA	0	pfam_Fcf1/Utp23		0.378	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP23	protein_coding	OTTHUMT00000381173.1	95	275	0	0.00	0	0	C	NM_032334	0	0		117782507	1	no_errors	ENST00000309822	ensembl	human	known	74_37	nonsense	54	208	22.86	27.34	16	79	SNP	1	T	T	117782507	C	T	117782507	4	4	97	1	0	0	0	0	0	1	0	0	17097	876	31	2	271	2	UTP23	8	117782507	Nonsense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	12342293	117782507	28581515	348	1547											
FAM83A	84985	genome.wustl.edu	37	chr8	124219588	124219588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatggccgccttagcagcaGcagtggctccgccagtgacc	8	6	12	15	2	0	1	0	1	0	0	1	1	1	1	5	2	3	4	5	2	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:124219588G>A	ENST00000518448.1	+	5	2979	c.965G>A	c.(964-966)aGc>aAc	p.S322N	FAM83A_ENST00000276699.6_Missense_Mutation_p.S322N|FAM83A_ENST00000318462.6_Missense_Mutation_p.S322N|FAM83A_ENST00000522648.1_Missense_Mutation_p.S266N|FAM83A_ENST00000546351.1_Missense_Mutation_p.S266N|FAM83A_ENST00000536633.1_Missense_Mutation_p.S322N			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	322	Ser-rich.									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)			CTTAGCAGCAGCAGTGGCTCC	0.716																																							0											0													14	16	15					8																	124219588		2196	4286	6482	SO:0001583	missense	0			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.965G>A	8.37:g.124219588G>A	ENSP00000428876:p.Ser322Asn		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	pfam_DUF1669	p.S322N	ENST00000518448.1	37	c.965	CCDS6340.1	8	.	.	.	.	.	.	.	.	.	.	G	9.269	1.045174	0.19748	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.10573	2.99;2.86;2.87;2.99;2.86;2.87	5.07	3.25	0.37280	.	1.462690	0.03737	N	0.254308	T	0.09598	0.0236	L	0.32530	0.975	0.22851	N	0.998653	B;B;B	0.21905	0.029;0.021;0.062	B;B;B	0.19391	0.025;0.017;0.021	T	0.40869	-0.9540	10	0.14252	T	0.57	-15.3688	6.3171	0.21196	0.2212:0.1341:0.6447:0.0	.	266;322;322	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	N	322;266;322;322;266;322	ENSP00000428876:S322N;ENSP00000440565:S266N;ENSP00000445218:S322N;ENSP00000323034:S322N;ENSP00000427979:S266N;ENSP00000276699:S322N	ENSP00000276699:S322N	S	+	2	0	FAM83A	124288769	0.852000	0.29690	0.257000	0.24404	0.095000	0.18619	1.095000	0.30964	0.527000	0.28560	0.436000	0.28706	AGC	0	NULL		0.716	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83A	protein_coding	OTTHUMT00000381737.1	18	44	0	0.00	0	0	G	NM_032899	0	0		124219588	1	no_errors	ENST00000318462	ensembl	human	known	74_37	missense	7	30	36.36	16.67	4	6	SNP	0.952	A	A	124219588	G	A	124219588	3	1	97	1	0	0	0	0	1	0	0	0	5633	971	34	3	979	3	FAM83A	8	124219588	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	6437081	124219588	22144434	349	1548											
ZFAT	57623	genome.wustl.edu	37	chr8	135649862	135649862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgggctgtcctcagtcGgactcacgatgttttctgcc	5	11	11	14	3	3	0	2	0	1	0	5	2	4	1	3	2	2	2	3	2	0	2	rs375401473		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:135649862G>A	ENST00000377838.3	-	3	464	c.290C>T	c.(289-291)cCg>cTg	p.P97L	ZFAT_ENST00000520214.1_Missense_Mutation_p.P85L|ZFAT_ENST00000523399.1_Missense_Mutation_p.P97L|ZFAT_ENST00000520356.1_Missense_Mutation_p.P85L|ZFAT_ENST00000520727.1_Missense_Mutation_p.P85L|ZFAT_ENST00000429442.2_Missense_Mutation_p.P85L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	97					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)			GTCCTCAGTCGGACTCACGAT	0.567													G|||	1	0.000199681	0	0	5008	,	,		19560	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0								G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4355		0,1,2177	102	107	105		254,254,290,254,290	4.3	0	8		105	0,8536		0,0,4268	no	missense,missense,missense,missense,missense	ZFAT	NM_001029939.3,NM_001167583.2,NM_001174157.1,NM_001174158.1,NM_020863.3	98,98,98,98,98	0,1,6445	AA,AG,GG		0.0,0.023,0.0078	benign,benign,benign,benign,benign	85/1232,85/1232,97/1182,85/1146,97/1244	135649862	1,12891	2178	4268	6446	SO:0001583	missense	0			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.290C>T	8.37:g.135649862G>A	ENSP00000367069:p.Pro97Leu		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P97L	ENST00000377838.3	37	c.290	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	G	2.917	-0.224061	0.06061	2.3E-4	0.0	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257;ENST00000518191	T;T;T;T;T;T;T;T	0.44482	3.01;2.95;2.95;2.95;2.95;2.94;0.92;1.53	5.15	4.28	0.50868	.	0.619727	0.15197	N	0.275216	T	0.25044	0.0608	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.18968	0.013;0.032;0.025;0.013	B;B;B;B	0.14578	0.003;0.003;0.011;0.003	T	0.16453	-1.0402	10	0.10902	T	0.67	-14.144	11.2199	0.48848	0.1544:0.0:0.8456:0.0	.	97;85;85;97	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	L	85;85;85;97;85;85;97;85;35;85	ENSP00000427879:P85L;ENSP00000427831:P85L;ENSP00000394501:P85L;ENSP00000367069:P97L;ENSP00000428483:P85L;ENSP00000429091:P97L;ENSP00000429983:P35L;ENSP00000428192:P85L	ENSP00000326997:P85L	P	-	2	0	ZFAT	135719044	0.433000	0.25562	0.007000	0.13788	0.055000	0.15305	1.845000	0.39279	1.183000	0.42943	-0.224000	0.12420	CCG	0	NULL		0.567	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	protein_coding	OTTHUMT00000378272.1	41	123	0	0.00	0	0	G	NM_001029939	rs375401473	G->A		135649862	-1	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	17	98	32	29.50	8	41	SNP	0.023	A	A	135649862	G	A	135649862	3	1	97	1	0	0	0	0	1	0	0	0	17629	1116	39	2	3497	2	ZFAT	8	135649862	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	11430274	135649862	10714160	350	1549											
COL22A1	169044	genome.wustl.edu	37	chr8	139601675	139601675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagcatagccaggttcccCgggttgacctggcccaagga	8	9	12	12	1	0	1	0	1	0	0	1	2	1	2	5	4	2	3	5	4	3	5	rs368533920		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:139601675C>T	ENST00000303045.6	-	65	5148	c.4702G>A	c.(4702-4704)Ggg>Agg	p.G1568R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1548R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1568	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)			CCAGGTTCCCCGGGTTGACCT	0.577										HNSCC(7;0.00092)																													0											0								C	ARG/GLY	0,4406		0,0,2203	37	33	34		4702	5.5	1	8		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL22A1	NM_152888.1	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1568/1627	139601675	1,13005	2203	4300	6503	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4702G>A	8.37:g.139601675C>T	ENSP00000303153:p.Gly1568Arg		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.G1568R	ENST00000303045.6	37	c.4702	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	18.66	3.670947	0.67814	0.0	1.16E-4	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99353	-5.77;-5.77	5.52	5.52	0.82312	.	0.000000	0.51477	D	0.000100	D	0.99760	0.9903	H	0.99368	4.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96949	0.9693	10	0.87932	D	0	.	18.7902	0.91971	0.0:1.0:0.0:0.0	.	1548;1568	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	1568;1548;1261	ENSP00000303153:G1568R;ENSP00000387655:G1548R	ENSP00000303153:G1568R	G	-	1	0	COL22A1	139670857	1.000000	0.71417	0.990000	0.47175	0.736000	0.42039	7.252000	0.78309	2.752000	0.94435	0.655000	0.94253	GGG	0	pfam_Collagen		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	14	185	0	0.00	0	0	C	XM_291257	rs368533920	C->T		139601675	-1	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	13	162	27.78	26.70	5	59	SNP	1	T	T	139601675	C	T	139601675	3	4	97	1	0	0	0	0	1	0	0	0	3681	652	23	2	182	2	COL22A1	8	139601675	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3951813	139601675	6762347	351	1550											
TSNARE1	203062	genome.wustl.edu	37	chr8	143399961	143399961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacggagctggcgctggctgCaatggtcttgttggtctcct	4	12	14	11	2	2	0	0	0	2	0	3	1	2	1	1	5	2	5	1	5	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:143399961C>T	ENST00000307180.3	-	7	1045	c.928G>A	c.(928-930)Gca>Aca	p.A310T	TSNARE1_ENST00000524325.1_Missense_Mutation_p.A310T|TSNARE1_ENST00000520166.1_Missense_Mutation_p.A310T|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000519651.1_Missense_Mutation_p.A91T	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	310					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)					GCGCTGGCTGCAATGGTCTTG	0.657																																							0											0													94	88	90					8																	143399961		2203	4300	6503	SO:0001583	missense	0					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.928G>A	8.37:g.143399961C>T	ENSP00000303437:p.Ala310Thr		B7ZLB0|Q14D03	Missense_Mutation	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A310T	ENST00000307180.3	37	c.928	CCDS6384.1	8	.	.	.	.	.	.	.	.	.	.	C	0.113	-1.135319	0.01742	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.0	-2.58	0.06228	t-SNARE (1);	0.539427	0.13518	U	0.381957	T	0.13628	0.0330	N	0.17312	0.475	0.09310	N	1	B;B;B;B	0.17465	0.022;0.004;0.022;0.022	B;B;B;B	0.12837	0.008;0.005;0.008;0.008	T	0.16012	-1.0417	10	0.35671	T	0.21	.	3.607	0.08046	0.3048:0.3648:0.0:0.3305	.	310;91;310;310	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	T	310;310;310;91	ENSP00000428763:A310T;ENSP00000303437:A310T;ENSP00000427770:A310T;ENSP00000429679:A91T	ENSP00000303437:A310T	A	-	1	0	TSNARE1	143397868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.209000	0.01228	-0.164000	0.10927	0.655000	0.94253	GCA	0	superfamily_t-SNARE,smart_Syntaxin_N		0.657	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSNARE1	protein_coding		22	44	0	0.00	0	0	C	NM_145003	0	0		143399961	-1	no_errors	ENST00000307180	ensembl	human	known	74_37	missense	13	35	31.58	27.08	6	13	SNP	0	T	T	143399961	C	T	143399961	3	4	97	1	0	0	0	0	1	0	0	0	16627	710	25	3	641	3	TSNARE1	8	143399961	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3798286	143399961	2964061	352	1551											
JRK	8629	genome.wustl.edu	37	chr8	143746582	143746582	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgagcccgggagctgTccagcaagagaacggctttg	8	6	17	10	3	0	2	0	1	0	1	1	4	1	3	2	3	4	3	2	3	2	1	rs587690059		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:143746582T>A	ENST00000507178.2	-	0	1228							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					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)	Acute lymphoblastic leukemia(644;2.31e-05)				ccgggagctgtccagcaagag	0.557																																							0											0													18	23	22					8																	143746582		1501	2929	4430			0			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746582T>A			O75565	RNA	SNP	0	NULL	ENST00000507178.2	37	NULL		8																																																																																			0	0		0.557	JRK-003	KNOWN	basic	processed_transcript	JRK	processed_transcript	OTTHUMT00000362914.1	44	75	0	0.00	0	0	T	NM_003724	0	0		143746582	-1	no_errors	ENST00000422119	ensembl	human	known	74_37	rna	28	45	31.71	34.78	13	24	SNP	0.84	A	A	143746582	T	A	143746582	1	1	97	0	1	0	0	0	0	0	0	0	7964	1667	58	5		5	JRK	8	143746582	RNA	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	346621	143746582	2617440	353	1552											
EEF1D	1936	genome.wustl.edu	37	chr8	144671269	144671269	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcggcagcgtggtggCggcactcggcgctgtcgtag	3	7	19	12	6	0	0	0	0	0	0	3	0	0	0	1	6	1	4	1	6	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:144671269C>T	ENST00000529272.1	-	2	397				EEF1D_ENST00000442189.2_Missense_Mutation_p.R328H|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.R378H|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.R328H|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000524624.1_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)			AGCGTGGTGGCGGCACTCGGC	0.687																																							0											0													20	21	20					8																	144671269		2197	4294	6491	SO:0001627	intron_variant	0			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.4-2250G>A	8.37:g.144671269C>T			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	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.R328H	ENST00000529272.1	37	c.983	CCDS6405.1	8	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864600	0.32977	.	.	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000356793;ENST00000337369	.	.	.	4.81	3.93	0.45458	.	0.215315	0.39909	N	0.001227	T	0.44329	0.1288	L	0.53249	1.67	0.80722	D	1	P;P;P	0.42409	0.671;0.671;0.779	B;B;B	0.33799	0.082;0.082;0.17	T	0.51325	-0.8720	9	0.87932	D	0	.	12.32	0.54979	0.0:0.9168:0.0:0.0832	.	328;378;328	D3DWK1;E9PRY8;P29692-2	.;.;.	H	378;328;328;280;328	.	ENSP00000338323:R328H	R	-	2	0	EEF1D	144742412	0.975000	0.34042	1.000000	0.80357	0.290000	0.27261	1.036000	0.30228	1.156000	0.42514	0.491000	0.48974	CGC	0	NULL		0.687	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EEF1D	protein_coding	OTTHUMT00000382592.2	29	39	0	0.00	0	0	C	NM_032378	0	0		144671269	-1	no_errors	ENST00000423316	ensembl	human	known	74_37	missense	21	37	36.36	32.73	12	18	SNP	1	T	T	144671269	C	T	144671269	1	4	97	0	1	0	0	0	0	0	0	0	4926	768	27	1		1	EEF1D	8	144671269	Intron	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	924687	144671269	1692753	354	1553											
BNC2	54796	genome.wustl.edu	37	chr9	16436639	16436639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacttgctatgacaggggtgGcagctcctgaggtggcccga	7	9	15	10	1	0	2	0	2	0	0	1	3	1	2	2	5	3	3	2	5	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:16436639G>A	ENST00000380672.4	-	6	1610	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	BNC2_ENST00000380666.2_Missense_Mutation_p.A518V|BNC2_ENST00000545497.1_Missense_Mutation_p.A423V|BNC2_ENST00000380667.2_Missense_Mutation_p.A451V	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)		GACAGGGGTGGCAGCTCCTGA	0.512																																							0											0													71	77	75					9																	16436639		2203	4300	6503	SO:0001583	missense	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1553C>T	9.37:g.16436639G>A	ENSP00000370047:p.Ala518Val			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A518V	ENST00000380672.4	37	c.1553	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731041	0.69074	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.33865	1.4;1.39;1.42;1.42;1.39	5.88	5.88	0.94601	.	0.048681	0.85682	D	0.000000	T	0.46983	0.1421	L	0.46157	1.445	0.80722	D	1	B;P;P;B;P;P;P;D;P	0.57571	0.42;0.849;0.906;0.097;0.906;0.849;0.849;0.98;0.849	B;B;P;B;P;B;B;P;B	0.51701	0.098;0.378;0.677;0.067;0.582;0.378;0.378;0.616;0.378	T	0.19943	-1.0290	10	0.41790	T	0.15	-18.0475	20.2422	0.98381	0.0:0.0:1.0:0.0	.	423;451;518;344;518;475;518;423;283	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	V	518;475;451;423;344;518;518	ENSP00000370047:A518V;ENSP00000408370:A475V;ENSP00000370042:A451V;ENSP00000444640:A423V;ENSP00000370041:A518V	ENSP00000370041:A518V	A	-	2	0	BNC2	16426639	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.210000	0.77924	2.782000	0.95742	0.655000	0.94253	GCC	0	NULL		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	protein_coding	OTTHUMT00000216901.5	82	199	0	1.00	0	2	G	NM_017637	0	0		16436639	-1	no_errors	ENST00000380672	ensembl	human	known	74_37	missense	41	191	31.67	28.46	19	76	SNP	1	A	A	16436639	G	A	16436639	3	1	97	1	0	0	0	0	1	0	0	0	1475	1203	42	3	1754	3	BNC2	9	16436639	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09		16436639	124776792	355	1554											
DCAF12	25853	genome.wustl.edu	37	chr9	34089566	34089566	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacagtgatgatgtgctcGtagaaactcactgaccggat	11	9	10	11	2	1	4	1	3	0	1	2	5	1	5	2	1	2	2	2	1	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:34089566G>A	ENST00000361264.4	-	8	1388	c.1047C>T	c.(1045-1047)taC>taT	p.Y349Y	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	349					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						TGATGTGCTCGTAGAAACTCA	0.493																																							0											0													63	58	60					9																	34089566		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1047C>T	9.37:g.34089566G>A			A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y349	ENST00000361264.4	37	c.1047	CCDS6549.1	9																																																																																			0	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.493	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12	protein_coding	OTTHUMT00000052133.2	41	179	0	0.00	0	0	G	NM_015397	0	0		34089566	-1	no_errors	ENST00000361264	ensembl	human	known	74_37	silent	41	117	12.77	25.95	6	41	SNP	0.536	A	A	34089566	G	A	34089566	2	1	97	1	0	0	0	0	0	0	0	1	4263	1140	40	1		1	DCAF12	9	34089566	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	17652927	34089566	107123865	356	1555											
TLN1	7094	genome.wustl.edu	37	chr9	35724310	35724310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctgctccctcagtgtcCgaccatggtccagccagttc	6	9	8	18	1	1	0	1	0	0	0	5	1	4	0	6	1	2	2	6	1	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:35724310C>T	ENST00000314888.9	-	6	886	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	TLN1_ENST00000540444.1_Missense_Mutation_p.R178Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	178	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)			CCTCAGTGTCCGACCATGGTC	0.562																																							0											0													74	67	69					9																	35724310		2203	4300	6503	SO:0001583	missense	0			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.533G>A	9.37:g.35724310C>T	ENSP00000316029:p.Arg178Gln		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.R178Q	ENST00000314888.9	37	c.533	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984461	0.93044	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.76448	-1.02;-1.02	5.39	5.39	0.77823	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	N	0.25647	0.755	0.80722	D	1	P;P	0.41978	0.767;0.462	B;B	0.29785	0.063;0.107	T	0.64149	-0.6475	10	0.08599	T	0.76	-19.0344	19.1711	0.93578	0.0:1.0:0.0:0.0	.	178;178	Q5TCU5;Q9Y490	.;TLN1_HUMAN	Q	178	ENSP00000316029:R178Q;ENSP00000442981:R178Q	ENSP00000316029:R178Q	R	-	2	0	TLN1	35714310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.525000	0.85131	0.655000	0.94253	CGG	0	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	protein_coding	OTTHUMT00000052353.2	38	130	0	0.00	0	0	C	NM_006289	0	0		35724310	-1	no_errors	ENST00000314888	ensembl	human	known	74_37	missense	17	96	19.05	34.69	4	51	SNP	1	T	T	35724310	C	T	35724310	3	4	97	1	0	0	0	0	1	0	0	0	15944	652	23	2	7300	2	TLN1	9	35724310	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1634744	35724310	105489121	357	1556											
ANKRD20A4	728747	genome.wustl.edu	37	chr9	69391189	69391189	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcaagacatgtgtggaCgagatgcagaagattatgct	12	10	12	7	2	1	4	1	0	0	4	2	6	1	5	0	1	2	3	0	1	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:69391189C>T	ENST00000357336.3	+	5	978	c.697C>T	c.(697-699)Cga>Tga	p.R233*	RNU6-1193P_ENST00000459461.1_RNA	NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	233										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						CATGTGTGGACGAGATGCAGA	0.348																																							0											0																																										SO:0001587	stop_gained	0				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.697C>T	9.37:g.69391189C>T	ENSP00000349891:p.Arg233*			Nonsense_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.R233*	ENST00000357336.3	37	c.697	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682638	0.68157	.	.	ENSG00000172014	ENST00000357336	.	.	.	1.58	-3.16	0.05217	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	6.0311	0.19681	0.0:0.373:0.0:0.627	.	.	.	.	X	233	.	ENSP00000349891:R233X	R	+	1	2	ANKRD20A4	68681009	0.997000	0.39634	0.005000	0.12908	0.005000	0.04900	0.445000	0.21677	-0.991000	0.03476	-1.206000	0.01644	CGA	0	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.348	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	protein_coding	OTTHUMT00000143287.3	85	0	0	0.00	0	0	C	NM_001098805	0	0		69391189	1	no_errors	ENST00000357336	ensembl	human	known	74_37	nonsense	56	0	16.42	0.00	11	0	SNP	0.009	T	T	69391189	C	T	69391189	4	4	97	1	0	0	0	0	0	1	0	0	650	528	19	1	715	1	ANKRD20A4	9	69391189	Nonsense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	33666879	69391189	71822242	358	1557											
CTSL1	1514	genome.wustl.edu	37	chr9	90343563	90343563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggacagatgttccggAaaactgggaggcttatctca	12	10	12	7	1	1	2	1	1	1	1	3	5	2	5	1	4	1	2	1	4	4	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:90343563A>G	ENST00000343150.5	+	5	1350	c.460A>G	c.(460-462)Aaa>Gaa	p.K154E	CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.K154E|CTSL_ENST00000342020.5_Missense_Mutation_p.K154E			P07711	CATL1_HUMAN	cathepsin L	154					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)										GATGTTCCGGAAAACTGGGAG	0.463																																							0											0													145	149	148					9																	90343563		2203	4300	6503	SO:0001583	missense	0			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.460A>G	9.37:g.90343563A>G	ENSP00000345344:p.Lys154Glu		Q6IAV1|Q96QJ0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.K154E	ENST00000343150.5	37	c.460	CCDS6675.1	9	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957415	0.73902	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	D;D;D	0.87571	-2.27;-2.27;-2.27	4.51	3.38	0.38709	Peptidase C1A, papain C-terminal (2);	0.093017	0.64402	D	0.000001	D	0.91975	0.7458	M	0.90650	3.135	0.80722	D	1	P	0.46621	0.881	P	0.53954	0.738	D	0.91681	0.5358	10	0.72032	D	0.01	.	9.7961	0.40735	0.9186:0.0:0.0814:0.0	.	154	P07711	CATL1_HUMAN	E	154	ENSP00000345344:K154E;ENSP00000365061:K154E;ENSP00000340470:K154E	ENSP00000365061:K154E	K	+	1	0	CTSL1	89533383	1.000000	0.71417	0.856000	0.33681	0.932000	0.56968	5.220000	0.65267	0.771000	0.33359	0.533000	0.62120	AAA	0	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.463	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL	protein_coding	OTTHUMT00000052936.1	75	149	0	0.00	0	0	A	NM_001912	0	0		90343563	1	no_errors	ENST00000340342	ensembl	human	known	74_37	missense	32	85	30.43	34.33	14	46	SNP	1	G	G	90343563	A	G	90343563	3	3	97	1	0	0	0	0	1	0	0	0	4038	247	9	3	474	3	CTSL1	9	90343563	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	20952374	90343563	50869868	359	1558											
SEMA4D	10507	genome.wustl.edu	37	chr9	91994251	91994251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacaaggtgggggccactaCgggctttggaaccaccttca	9	8	13	11	1	1	1	1	1	0	0	1	2	1	2	3	5	2	1	3	5	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:91994251C>T	ENST00000450295.1	-	16	2733	c.1957G>A	c.(1957-1959)Gta>Ata	p.V653I	SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.V653I|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.V653I|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.V653I			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	653					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						GGGGCCACTACGGGCTTTGGA	0.557																																							0											0													140	146	144					9																	91994251		2203	4300	6503	SO:0001583	missense	0			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.1957G>A	9.37:g.91994251C>T	ENSP00000416523:p.Val653Ile		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.V653I	ENST00000450295.1	37	c.1957	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	C	0.168	-1.073968	0.01918	.	.	ENSG00000187764	ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.13	-2.93	0.05598	.	2.733310	0.01004	N	0.003721	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.09377	0.004	T	0.15009	-1.0452	10	0.34782	T	0.22	.	1.1519	0.01787	0.2523:0.1067:0.1905:0.4505	.	653	Q92854	SEM4D_HUMAN	I	653	ENSP00000416523:V653I;ENSP00000405102:V653I;ENSP00000348822:V653I;ENSP00000388768:V653I	ENSP00000348822:V653I	V	-	1	0	SEMA4D	91184071	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.078000	0.14761	-0.345000	0.08325	-0.311000	0.09066	GTA	0	NULL		0.557	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	protein_coding	OTTHUMT00000342411.1	33	224	2.94	0.00	1	0	C	NM_006378	0	0		91994251	-1	no_errors	ENST00000356444	ensembl	human	known	74_37	missense	25	172	28.57	30.65	10	76	SNP	0	T	T	91994251	C	T	91994251	3	4	97	1	0	0	0	0	1	0	0	0	14034	536	19	1	1205	1	SEMA4D	9	91994251	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1650688	91994251	49219180	360	1559											
C9orf89	84270	genome.wustl.edu	37	chr9	95870091	95870091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccttaccaacaaggaggCggaaaaggtgctgaggaggt	13	6	15	7	1	0	1	0	1	0	0	1	5	1	4	2	6	3	1	2	6	5	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:95870091C>T	ENST00000375464.2	+	2	271	c.143C>T	c.(142-144)gCg>gTg	p.A48V		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	48	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						AACAAGGAGGCGGAAAAGGTG	0.577																																							0											0													82	64	70					9																	95870091		2203	4300	6503	SO:0001583	missense	0			AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"Bcl10-interacting protein with CARD"					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.143C>T	9.37:g.95870091C>T	ENSP00000364613:p.Ala48Val		Q5BJH8|Q9BSY2	Missense_Mutation	SNP	superfamily_DEATH-like_dom	p.A48V	ENST00000375464.2	37	c.143	CCDS6702.2	9	.	.	.	.	.	.	.	.	.	.	C	33	5.202584	0.94997	.	.	ENSG00000165233	ENST00000375464	T	0.15256	2.44	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	.	.	.	0.48975	D	0.999739	D	0.76494	0.999	P	0.62089	0.898	T	0.30149	-0.9988	9	0.87932	D	0	.	16.516	0.84300	0.0:1.0:0.0:0.0	.	48	Q96LW7-2	.	V	48	ENSP00000364613:A48V	ENSP00000364613:A48V	A	+	2	0	C9orf89	94909912	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	5.759000	0.68785	2.584000	0.87258	0.561000	0.74099	GCG	0	superfamily_DEATH-like_dom		0.577	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf89	protein_coding	OTTHUMT00000053128.1	73	239	0	0.00	0	0	C	NM_032310	0	0		95870091	1	no_errors	ENST00000466409	ensembl	human	known	74_37	missense	35	154	28	32.02	14	73	SNP	0.997	T	T	95870091	C	T	95870091	3	4	97	1	0	0	0	0	1	0	0	0	2503	768	27	1	149	1	C9orf89	9	95870091	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3875840	95870091	45343340	361	1560											
SLC35D2	11046	genome.wustl.edu	37	chr9	99122450	99122450	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctaccttaatttacttgtGcttgataatccacttatgtg	9	18	5	9	0	1	1	0	1	1	0	2	1	2	1	2	0	3	1	2	0	5	8			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:99122450G>A	ENST00000253270.7	-	4	395	c.333C>T	c.(331-333)agC>agT	p.S111S	SLC35D2_ENST00000375259.4_Silent_p.S111S|SLC35D2_ENST00000375257.1_Silent_p.S111S|SLC35D2_ENST00000482643.1_5'UTR	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	111					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ATTTACTTGTGCTTGATAATC	0.383																																							0											0													114	101	106					9																	99122450		2203	4300	6503	SO:0001819	synonymous_variant	0			AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"Solute carriers"	20799	protein-coding gene	gene with protein product		609182	"solute carrier family 35, member D2"			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.333C>T	9.37:g.99122450G>A			O95454|Q498C1|Q75W21|Q7Z5X5	Silent	SNP	pfam_Tpt_PEP_trans_dom,pfam_UAA	p.S111	ENST00000253270.7	37	c.333	CCDS6717.1	9																																																																																			0	pfam_UAA		0.383	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D2	protein_coding	OTTHUMT00000053261.1	53	261	0	0.00	0	0	G		0	0		99122450	-1	no_errors	ENST00000253270	ensembl	human	known	74_37	silent	26	220	27.78	23.26	10	67	SNP	1	A	A	99122450	G	A	99122450	2	1	97	1	0	0	0	0	0	0	0	1	14582	1310	46	3		3	SLC35D2	9	99122450	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3252359	99122450	42090981	362	1561											
GRIN3A	116443	genome.wustl.edu	37	chr9	104385644	104385644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgagaagtttgcagtcaGcatctattgacacttcataa	13	12	8	8	0	3	2	2	2	1	1	3	3	3	2	0	0	2	3	0	0	3	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:104385644G>A	ENST00000361820.3	-	5	3170	c.2570C>T	c.(2569-2571)gCt>gTt	p.A857V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	857					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)	TTTGCAGTCAGCATCTATTGA	0.418																																							0											0													165	149	154					9																	104385644		2203	4300	6503	SO:0001583	missense	0				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.2570C>T	9.37:g.104385644G>A	ENSP00000355155:p.Ala857Val		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.A857V	ENST00000361820.3	37	c.2570	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419518	0.83559	.	.	ENSG00000198785	ENST00000361820	T	0.28255	1.62	5.72	4.82	0.62117	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.64997	1.995	0.58432	D	0.999998	P	0.48089	0.905	P	0.46629	0.522	T	0.40232	-0.9574	10	0.62326	D	0.03	.	16.0797	0.80995	0.0:0.0:0.8649:0.1351	.	857	Q8TCU5	NMD3A_HUMAN	V	857	ENSP00000355155:A857V	ENSP00000355155:A857V	A	-	2	0	GRIN3A	103425465	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	1.415000	0.47037	-0.188000	0.12872	GCT	0	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.418	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	protein_coding	OTTHUMT00000053453.1	104	164	0	0.00	0	0	G		0	0		104385644	-1	no_errors	ENST00000361820	ensembl	human	known	74_37	missense	60	141	27.71	29.35	23	59	SNP	1	A	A	104385644	G	A	104385644	3	1	97	1	0	0	0	0	1	0	0	0	6783	971	34	3	797	3	GRIN3A	9	104385644	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	5263194	104385644	36827787	363	1562											
ABCA1	19	genome.wustl.edu	37	chr9	107646762	107646762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccccaggagtcgggtaaCggaaacaggggttgttggca	9	7	15	10	2	0	0	0	0	0	0	2	2	1	2	3	6	2	4	3	6	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:107646762C>T	ENST00000374736.3	-	4	642	c.248G>A	c.(247-249)cGt>cAt	p.R83H	ABCA1_ENST00000374733.1_Missense_Mutation_p.R23H|ABCA1_ENST00000423487.2_Missense_Mutation_p.R83H	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	83					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)	AGTCGGGTAACGGAAACAGGG	0.453																																							0											0													77	80	79					9																	107646762		2203	4300	6503	SO:0001583	missense	0			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.248G>A	9.37:g.107646762C>T	ENSP00000363868:p.Arg83His		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.R83H	ENST00000374736.3	37	c.248	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994908	0.93167	.	.	ENSG00000165029	ENST00000374736;ENST00000423487;ENST00000374733	D;D;D	0.98474	-4.95;-4.95;-4.95	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	L	0.54323	1.7	0.80722	D	1	D;B	0.89917	1.0;0.258	D;B	0.97110	1.0;0.035	D	0.99113	1.0847	10	0.44086	T	0.13	.	19.5543	0.95335	0.0:1.0:0.0:0.0	.	23;83	B1AMI1;O95477	.;ABCA1_HUMAN	H	83;83;23	ENSP00000363868:R83H;ENSP00000416623:R83H;ENSP00000363865:R23H	ENSP00000363865:R23H	R	-	2	0	ABCA1	106686583	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.766000	0.85320	2.634000	0.89283	0.563000	0.77884	CGT	0	NULL		0.453	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	protein_coding	OTTHUMT00000053491.1	123	228	0	0.00	0	0	C	NM_005502	0	0		107646762	-1	no_errors	ENST00000374736	ensembl	human	known	74_37	missense	72	248	25	26.63	24	90	SNP	1	T	T	107646762	C	T	107646762	3	4	97	1	0	0	0	0	1	0	0	0	28	536	19	1	6725	1	ABCA1	9	107646762	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3261118	107646762	33566669	364	1563											
OR2K2	26248	genome.wustl.edu	37	chr9	114089908	114089909	+	Frame_Shift_Ins	INS	-	-	T																															caacgagatgattttgtctaINSttttttgtgcatttgatgaa																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:114089908_114089909insT	ENST00000374428.1	-	1	891_892	c.892_893insA	c.(892-894)atafs	p.I298fs	OR2K2_ENST00000302681.1_Frame_Shift_Ins_p.I269fs			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	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)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GATTTTGTCTATTTTTTGTGCA	0.396																																							0											0																																										SO:0001589	frameshift_variant	0			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.893dupA	9.37:g.114089914_114089914dupT	ENSP00000363550:p.Ile298fs		Q2TA61|Q5VYK4|Q6IFI5	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I298fs	ENST00000374428.1	37	c.893_892		9																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.396	OR2K2-201	KNOWN	basic	protein_coding	OR2K2	protein_coding		91	213	0	0.00	0	0	0	NM_205859	0	0		114089909	-1	no_errors	ENST00000374428	ensembl	human	known	74_37	frame_shift_ins	62	233	32.61	22.33	30	67	INS	0.052:0.001	T	T	114089909	-	T	114089908	7	5	97	1	0	1	1	0	0	0	0	0	11005	449	16	0	147	0	OR2K2	9	114089908	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	6443146	114089908	27123523	365	1564											
SLC46A2	57864	genome.wustl.edu	37	chr9	115652022	115652022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcacttggttccaacCgagaggctccctcagcacaa	10	7	8	16	1	1	1	1	0	0	1	3	2	3	1	4	2	3	4	4	2	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:115652022C>T	ENST00000374228.4	-	1	1171	c.940G>A	c.(940-942)Ggt>Agt	p.G314S		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	314					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TGGTTCCAACCGAGAGGCTCC	0.557																																							0											0													102	94	97					9																	115652022		2203	4300	6503	SO:0001583	missense	0			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.940G>A	9.37:g.115652022C>T	ENSP00000363345:p.Gly314Ser		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.G314S	ENST00000374228.4	37	c.940	CCDS6786.1	9	.	.	.	.	.	.	.	.	.	.	C	3.162	-0.171848	0.06421	.	.	ENSG00000119457	ENST00000374228	D	0.86627	-2.15	5.66	3.27	0.37495	Major facilitator superfamily domain, general substrate transporter (1);	0.418165	0.33327	N	0.005029	T	0.56171	0.1967	N	0.00368	-1.59	0.22620	N	0.998927	B	0.02656	0.0	B	0.01281	0.0	T	0.53514	-0.8428	10	0.08599	T	0.76	0.569	8.0955	0.30826	0.0:0.0719:0.1405:0.7877	.	314	Q9BY10	TSCOT_HUMAN	S	314	ENSP00000363345:G314S	ENSP00000363345:G314S	G	-	1	0	SLC46A2	114691843	0.968000	0.33430	0.594000	0.28785	0.940000	0.58332	1.518000	0.35877	0.424000	0.26061	-0.357000	0.07601	GGT	0	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.557	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	protein_coding	OTTHUMT00000053702.1	53	173	0	0.00	0	0	C	NM_033051	0	0		115652022	-1	no_errors	ENST00000374228	ensembl	human	known	74_37	missense	15	113	46.43	35.59	13	63	SNP	0.977	T	T	115652022	C	T	115652022	3	4	97	1	0	0	0	0	1	0	0	0	14645	652	23	2	503	2	SLC46A2	9	115652022	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1562114	115652022	25561409	366	1565											
RGS3	5998	genome.wustl.edu	37	chr9	116268675	116268675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtccctgcagggggtccGgcggaacgggcagggctgca	5	7	18	11	3	0	0	0	0	0	0	2	1	2	1	2	6	3	4	2	6	1	1	rs565492325		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:116268675G>A	ENST00000374140.2	+	13	1196	c.987G>A	c.(985-987)ccG>ccA	p.P329P	RGS3_ENST00000343817.5_Silent_p.P48P|RGS3_ENST00000394646.3_Silent_p.P48P|RGS3_ENST00000317613.6_Silent_p.P217P|RGS3_ENST00000350696.5_Silent_p.P329P|RGS3_ENST00000374136.1_5'UTR	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	329	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						CAGGGGGTCCGGCGGAACGGG	0.607													G|||	1	0.000199681	0	0	5008	,	,		17977	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0													14	15	15					9																	116268675		2199	4297	6496	SO:0001819	synonymous_variant	0			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.987G>A	9.37:g.116268675G>A			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.P329	ENST00000374140.2	37	c.987	CCDS43869.1	9																																																																																			0	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.607	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	protein_coding	OTTHUMT00000055561.3	29	140	0	0.00	0	0	G	NM_017790	rs565492325	G->A		116268675	1	no_errors	ENST00000350696	ensembl	human	known	74_37	silent	16	96	27.27	33.79	6	49	SNP	0.01	A	A	116268675	G	A	116268675	2	1	97	1	0	0	0	0	0	0	0	1	13306	1103	39	2		2	RGS3	9	116268675	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	616653	116268675	24944756	367	1566											
ENG	2022	genome.wustl.edu	37	chr9	130587557	130587557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgagccaggacacgtaggGgggaccctgcaggatgagga	11	4	18	8	1	0	2	0	2	0	0	0	7	0	6	2	6	2	2	2	6	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:130587557G>T	ENST00000373203.4	-	6	1169	c.769C>A	c.(769-771)Ccc>Acc	p.P257T	ENG_ENST00000344849.3_Missense_Mutation_p.P257T|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_5'Flank	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	257	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GACACGTAGGGGGGACCCTGC	0.632									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																														0											0													77	60	66					9																	130587557		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.769C>A	9.37:g.130587557G>T	ENSP00000362299:p.Pro257Thr		Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	pfam_ZP_dom	p.P257T	ENST00000373203.4	37	c.769	CCDS48029.1	9	.	.	.	.	.	.	.	.	.	.	g	10.12	1.262319	0.23051	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.42513	0.97;1.55	4.58	2.72	0.32119	.	0.529435	0.17221	N	0.182337	T	0.44767	0.1309	M	0.65975	2.015	0.09310	N	1	D;D	0.55605	0.972;0.972	P;P	0.48304	0.573;0.573	T	0.33574	-0.9863	10	0.56958	D	0.05	-7.6282	7.22	0.25981	0.0931:0.3557:0.5511:0.0	.	257;257	Q5T9B9;P17813	.;EGLN_HUMAN	T	257;257;257;75	ENSP00000362299:P257T;ENSP00000341917:P257T	ENSP00000341917:P257T	P	-	1	0	ENG	129627378	0.076000	0.21285	0.009000	0.14445	0.003000	0.03518	0.758000	0.26447	0.555000	0.29079	-0.334000	0.08254	CCC	0	NULL		0.632	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENG	protein_coding	OTTHUMT00000054313.1	12	53	0	0.00	0	0	G		0	0		130587557	-1	no_errors	ENST00000373203	ensembl	human	known	74_37	missense	8	43	33.33	21.82	4	12	SNP	0.005	T	T	130587557	G	T	130587557	3	4	97	1	0	0	0	0	1	0	0	0	5117	1232	43	5	1273	5	ENG	9	130587557	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	14318882	130587557	10625874	368	1567											
BAT2L1	84726	genome.wustl.edu	37	chr9	134354747	134354747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgtgcctggcagcagcCtgggcactgagatctgggag	7	7	16	11	1	1	2	0	2	1	1	1	4	1	3	3	3	3	3	3	3	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:134354747C>A	ENST00000357304.4	+	18	4922	c.4867C>A	c.(4867-4869)Ctg>Atg	p.L1623M	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.L929M|PRRC2B_ENST00000405995.1_Missense_Mutation_p.L929M	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1623							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						TGGCAGCAGCCTGGGCACTGA	0.567																																							0											0													44	45	45					9																	134354747		2022	4192	6214	SO:0001583	missense	0			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.4867C>A	9.37:g.134354747C>A	ENSP00000349856:p.Leu1623Met		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.L1623M	ENST00000357304.4	37	c.4867	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.90|17.90	3.502415|3.502415	0.64298|0.64298	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550|ENST00000451855	T;T;T|.	0.03468|.	3.92;4.19;3.92|.	5.23|5.23	3.33|3.33	0.38152|0.38152	.|.	0.000000|.	0.32987|.	U|.	0.005420|.	T|T	0.62551|0.62551	0.2437|0.2437	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.997|.	T|T	0.58165|0.58165	-0.7684|-0.7684	10|5	0.42905|.	T|.	0.14|.	-31.324|-31.324	8.3748|8.3748	0.32436|0.32436	0.0:0.8131:0.0:0.1869|0.0:0.8131:0.0:0.1869	.|.	356;1623|.	Q5JSZ8;Q5JSZ5|.	.;PRC2B_HUMAN|.	M|H	929;1623;929|356	ENSP00000384606:L929M;ENSP00000349856:L1623M;ENSP00000398853:L929M|.	ENSP00000349856:L1623M|.	L|P	+|+	1|2	2|0	PRRC2B|PRRC2B	133344568|133344568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	2.730000|2.730000	0.47335|0.47335	0.544000|0.544000	0.28883|0.28883	0.455000|0.455000	0.32223|0.32223	CTG|CCT	0	NULL		0.567	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	protein_coding		41	73	0	0.00	0	0	C		0	0		134354747	1	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	16	79	15.79	15.96	3	15	SNP	1	A	A	134354747	C	A	134354747	3	1	97	1	0	0	0	0	1	0	0	0	1320	680	24	5	4937	5	BAT2L1	9	134354747	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3767190	134354747	6858684	369	1568											
NTNG2	84628	genome.wustl.edu	37	chr9	135102273	135102273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgccaacctgtgctccatgCgcgagggcagcctgcagtgc	7	6	13	15	3	0	0	0	0	0	0	1	1	1	0	4	1	6	3	4	1	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:135102273C>T	ENST00000393229.3	+	4	1671	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	NTNG2_ENST00000360670.3_Missense_Mutation_p.R299C|NTNG2_ENST00000393228.4_Missense_Mutation_p.R299C|NTNG2_ENST00000372179.3_Missense_Mutation_p.R299C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	299	Laminin EGF-like 1. {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)		GTGCTCCATGCGCGAGGGCAG	0.662																																							0											0													40	34	36					9																	135102273		2203	4300	6503	SO:0001583	missense	0			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.895C>T	9.37:g.135102273C>T	ENSP00000376921:p.Arg299Cys		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.R299C	ENST00000393229.3	37	c.895	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304483	0.40795	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.86	3.87	0.44632	EGF-like, laminin (3);	0.502367	0.17877	N	0.158965	T	0.55016	0.1894	L	0.48642	1.525	0.47153	D	0.999333	D	0.55385	0.971	B	0.42422	0.387	T	0.60949	-0.7161	10	0.56958	D	0.05	.	11.6461	0.51261	0.2504:0.7495:0.0:0.0	.	299	Q96CW9	NTNG2_HUMAN	C	299	ENSP00000376921:R299C;ENSP00000376920:R299C;ENSP00000353888:R299C;ENSP00000361252:R299C	ENSP00000353888:R299C	R	+	1	0	NTNG2	134092094	0.802000	0.28943	0.610000	0.28997	0.173000	0.22820	0.804000	0.27098	2.242000	0.73789	0.313000	0.20887	CGC	0	pfam_EGF_laminin,smart_EGF_laminin		0.662	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	protein_coding	OTTHUMT00000054779.1	41	13	0	0.00	0	0	C	NM_032536	0	0		135102273	1	no_errors	ENST00000360670	ensembl	human	known	74_37	missense	28	8	23.68	33.33	9	4	SNP	0.877	T	T	135102273	C	T	135102273	3	4	97	1	0	0	0	0	1	0	0	0	10705	768	27	1	905	1	NTNG2	9	135102273	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	747526	135102273	6111158	370	1569											
SURF6	6838	genome.wustl.edu	37	chr9	136199551	136199551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgttcctgctttctccGccgccttttctccaaggcgg	2	13	9	17	4	2	0	0	0	2	0	6	0	4	0	6	2	1	2	6	2	1	4	rs146687433	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:136199551G>A	ENST00000372022.4	-	4	704	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	147					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)		TGCTTTCTCCGCCGCCTTTTC	0.627																																							0											0													80	87	84					9																	136199551		2202	4300	6502	SO:0001583	missense	0			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.439C>T	9.37:g.136199551G>A	ENSP00000361092:p.Arg147Trp		Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	pfam_Surf6	p.R147W	ENST00000372022.4	37	c.439	CCDS6962.1	9	.	.	.	.	.	.	.	.	.	.	g	10.78	1.447086	0.25987	.	.	ENSG00000148296	ENST00000372022	T	0.16324	2.35	4.38	0.222	0.15288	.	0.273165	0.34580	N	0.003848	T	0.38852	0.1056	M	0.72118	2.19	0.27102	N	0.962596	D	0.89917	1.0	D	0.85130	0.997	T	0.37361	-0.9709	10	0.56958	D	0.05	-25.0593	15.418	0.74987	0.0:0.0:0.5904:0.4096	.	147	O75683	SURF6_HUMAN	W	147	ENSP00000361092:R147W	ENSP00000361092:R147W	R	-	1	2	SURF6	135189372	0.775000	0.28604	0.021000	0.16686	0.004000	0.04260	1.075000	0.30716	-0.417000	0.07461	-4.184000	0.00009	CGG	0	pfam_Surf6		0.627	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	protein_coding	OTTHUMT00000054905.1	30	101	0	0.00	0	0	G	NM_006753	0	0		136199551	-1	no_errors	ENST00000372022	ensembl	human	known	74_37	missense	19	78	34.48	37.01	10	47	SNP	0.172	A	A	136199551	G	A	136199551	3	1	97	1	0	0	0	0	1	0	0	0	15403	1086	38	1	654	1	SURF6	9	136199551	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1097278	136199551	5013880	371	1570											
ADAMTS13	11093	genome.wustl.edu	37	chr9	136291138	136291138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccatcaaccctgaggaCgacacggatcctggccatgc	11	5	10	15	2	1	2	1	1	0	1	2	5	2	4	4	3	2	0	4	3	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:136291138C>T	ENST00000371929.3	+	5	939	c.495C>T	c.(493-495)gaC>gaT	p.D165D	ADAMTS13_ENST00000356589.2_Silent_p.D165D|ADAMTS13_ENST00000355699.2_Silent_p.D165D|ADAMTS13_ENST00000371911.3_Silent_p.D165D|ADAMTS13_ENST00000536611.1_5'Flank|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_Silent_p.D165D	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	165	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCCTGAGGACGACACGGATC	0.607																																							0											0													125	99	108					9																	136291138		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.495C>T	9.37:g.136291138C>T			Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D165	ENST00000371929.3	37	c.495	CCDS6970.1	9																																																																																			0	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.607	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	protein_coding	OTTHUMT00000054920.1	25	112	0	0.00	0	0	C	NM_139025	0	0		136291138	1	no_errors	ENST00000371929	ensembl	human	known	74_37	silent	23	105	23.33	21.64	7	29	SNP	0.239	T	T	136291138	C	T	136291138	2	4	97	1	0	0	0	0	0	0	0	1	258	535	19	1		1	ADAMTS13	9	136291138	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	91587	136291138	4922293	372	1571											
OLFM1	10439	genome.wustl.edu	37	chr9	138011647	138011647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatcgacctcatggtggacGagagcgggctgtgggccgtg	7	7	17	10	4	1	1	1	0	0	1	2	4	1	2	2	4	1	1	2	4	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:138011647G>A	ENST00000371793.3	+	6	1332	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	OLFM1_ENST00000371796.3_Missense_Mutation_p.E334K|OLFM1_ENST00000252854.4_Missense_Mutation_p.E343K	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	361	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	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)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CATGGTGGACGAGAGCGGGCT	0.612																																							0											0													74	60	65					9																	138011647		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1081G>A	9.37:g.138011647G>A	ENSP00000360858:p.Glu361Lys		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.E361K	ENST00000371793.3	37	c.1081		9	.	.	.	.	.	.	.	.	.	.	G	34	5.321201	0.95682	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.93763	-3.28;-3.28;-3.28	5.07	5.07	0.68467	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.987	D	0.98982	1.0805	10	0.87932	D	0	.	18.4324	0.90630	0.0:0.0:1.0:0.0	.	361;343	Q99784;Q6IMJ8	NOE1_HUMAN;.	K	343;334;361	ENSP00000252854:E343K;ENSP00000360861:E334K;ENSP00000360858:E361K	ENSP00000252854:E343K	E	+	1	0	OLFM1	137151468	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.571000	0.98176	2.357000	0.79964	0.561000	0.74099	GAG	0	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like		0.612	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	protein_coding	OTTHUMT00000054974.1	15	121	0	0.00	0	0	G	NM_014279	0	0		138011647	1	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	13	100	31.58	30.34	6	44	SNP	1	A	A	138011647	G	A	138011647	3	1	97	1	0	0	0	0	1	0	0	0	10852	1059	37	2	1059	2	OLFM1	9	138011647	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1720509	138011647	3201784	373	1572											
SNAPC4	6621	genome.wustl.edu	37	chr9	139272182	139272182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggctgccaggaaccgcGcccgcaacaggaggtaggcc	10	3	15	13	3	0	1	0	1	0	0	0	3	0	3	4	5	3	3	4	5	4	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139272182G>A	ENST00000298532.2	-	21	4465	c.4097C>T	c.(4096-4098)gCg>gTg	p.A1366V		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)		CAGGAACCGCGCCCGCAACAG	0.721																																							0											0													21	24	23					9																	139272182		2193	4295	6488	SO:0001583	missense	0			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.4097C>T	9.37:g.139272182G>A	ENSP00000298532:p.Ala1366Val			Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A1366V	ENST00000298532.2	37	c.4097	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	g	12.60	1.986888	0.35036	.	.	ENSG00000165684	ENST00000298532	T	0.35236	1.32	4.06	3.15	0.36227	.	0.325286	0.26418	N	0.024486	T	0.24084	0.0583	L	0.52573	1.65	0.09310	N	1	P	0.41710	0.76	B	0.28305	0.088	T	0.26815	-1.0092	10	0.87932	D	0	-8.5538	6.4992	0.22160	0.0953:0.0:0.7281:0.1766	.	1366	Q5SXM2	SNPC4_HUMAN	V	1366	ENSP00000298532:A1366V	ENSP00000298532:A1366V	A	-	2	0	SNAPC4	138392003	1.000000	0.71417	0.017000	0.16124	0.007000	0.05969	3.685000	0.54678	0.680000	0.31366	0.556000	0.70494	GCG	0	NULL		0.721	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	protein_coding	OTTHUMT00000055071.1	13	55	0	0.00	0	0	G	NM_003086	0	0		139272182	-1	no_errors	ENST00000298532	ensembl	human	known	74_37	missense	8	34	27.27	22.73	3	10	SNP	0.325	A	A	139272182	G	A	139272182	3	1	97	1	0	0	0	0	1	0	0	0	14837	1087	38	1	320	1	SNAPC4	9	139272182	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1260535	139272182	1941249	374	1573											
SNAPC4	6621	genome.wustl.edu	37	chr9	139289753	139289753	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcggccactcaccacGcccgtgaccttgtccttgaa	6	8	10	17	3	1	2	1	2	0	0	3	2	2	2	6	2	0	0	6	2	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139289753G>A	ENST00000298532.2	-	4	836	c.468C>T	c.(466-468)ggC>ggT	p.G156G		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)		CACTCACCACGCCCGTGACCT	0.582																																							0											0													102	83	89					9																	139289753		2203	4299	6502	SO:0001819	synonymous_variant	0			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.468C>T	9.37:g.139289753G>A				Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.G156	ENST00000298532.2	37	c.468	CCDS6998.1	9																																																																																			0	NULL		0.582	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	protein_coding	OTTHUMT00000055071.1	28	180	0	0.00	0	0	G	NM_003086	0	0		139289753	-1	no_errors	ENST00000298532	ensembl	human	known	74_37	silent	19	119	29.63	26.54	8	43	SNP	0.997	A	A	139289753	G	A	139289753	2	1	97	1	0	0	0	0	0	0	0	1	14837	1074	38	1		1	SNAPC4	9	139289753	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	17571	139289753	1923678	375	1574											
NOTCH1	4851	genome.wustl.edu	37	chr9	139407932	139407934	+	In_Frame_Del	DEL	ATT	ATT	-																															caagggttggattcacactcAttgttgttgatgtcacagtt																								rs2229971|rs587778559|rs376424722	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	ATT	ATT	ATT	-	ATT	ATT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139407932_139407934delATT	ENST00000277541.6	-	14	2338_2340	c.2263_2265delAAT	c.(2263-2265)aatdel	p.N755del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	755	EGF-like 20. {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)		ATTCACACTCATTGTTGTTGATG	0.601			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																													0		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0																																										SO:0001651	inframe_deletion	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2263_2265delAAT	9.37:g.139407932_139407934delATT	ENSP00000277541:p.Asn755del		Q59ED8|Q5SXM3	In_Frame_Del	DEL	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.N755in_frame_del	ENST00000277541.6	37	c.2265_2263	CCDS43905.1	9																																																																																			0	smart_EGF-like_Ca-bd_dom,pirsf_Notch,pfscan_EG-like_dom		0.601	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	protein_coding	OTTHUMT00000055087.1	11	205	0	0.00	0	0	ATT	NM_017617	rs587778559	CATT->C		139407934	-1	no_errors	ENST00000277541	ensembl	human	known	74_37	in_frame_del	5	139	44.44	28.35	4	55	DEL	0.954:0.999:1.000	0	-	139407934	ATT	-	139407932	7	5	97	1	0	1	0	1	0	0	0	0	10547	214	8	0	5486	0	NOTCH1	9	139407932	In_Frame_Del	DEL	ATT	TCGA-ZB-A966-01A-11D-A428-09	118179	139407932	1805499	376	1575											
KIAA1984	84960	genome.wustl.edu	37	chr9	139699024	139699026	+	In_Frame_Del	DEL	AGA	AGA	-																															ggagaaccggctcaaccagcAgaagaagctgatcgacaaga																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AGA	AGA	AGA	-	AGA	AGA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139699024_139699026delAGA	ENST00000338005.6	+	7	772_774	c.737_739delAGA	c.(736-741)cagaag>cag	p.K248del	RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		248										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)		CTCAACCAGCAGAAGAAGCTGAT	0.635																																							0											0																																										SO:0001651	inframe_deletion	0																														ENST00000338005.6:c.737_739delAGA	9.37:g.139699027_139699029delAGA	ENSP00000338013:p.Lys248del		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	In_Frame_Del	DEL	NULL	p.K248in_frame_del	ENST00000338005.6	37	c.737_739	CCDS43906.1	9																																																																																			0	NULL		0.635	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	protein_coding	OTTHUMT00000354899.1	30	75	0	0.00	0	0	AGA		0	0		139699026	1	no_errors	ENST00000338005	ensembl	human	known	74_37	in_frame_del	15	60	34.78	25.93	8	21	DEL	1.000:1.000:1.000	0	-	139699026	AGA	-	139699024	7	5	97	1	0	1	0	1	0	0	0	0	8266	188	7	0	763	0	KIAA1984	9	139699024	In_Frame_Del	DEL	AGA	TCGA-ZB-A966-01A-11D-A428-09	291092	139699024	1514407	377	1576											
LCN12	286256	genome.wustl.edu	37	chr9	139848225	139848225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagttcactgtggaccacGgtgtgggtaagccagtcaca	9	8	14	10	1	2	0	2	0	0	0	2	1	2	1	2	4	1	3	2	4	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139848225G>A	ENST00000371633.3	+	3	325	c.325G>A	c.(325-327)Ggt>Agt	p.G109S	LCN12_ENST00000466277.1_3'UTR	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	109					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)		TGTGGACCACGGTGTGGGTAA	0.647																																							0											0													31	36	34					9																	139848225		2074	4181	6255	SO:0001583	missense	0			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.325G>A	9.37:g.139848225G>A	ENSP00000360696:p.Gly109Ser		A2AMJ7	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_N_gelatinase	p.G109S	ENST00000371633.3	37	c.325	CCDS7018.2	9	.	.	.	.	.	.	.	.	.	.	G	9.322	1.058189	0.19987	.	.	ENSG00000184925	ENST00000371633;ENST00000371632	T;D	0.82167	3.16;-1.58	1.72	-3.44	0.04796	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	2.174090	0.02757	N	0.118155	T	0.64670	0.2619	N	0.22421	0.69	0.09310	N	1	P;P	0.43519	0.455;0.809	B;B	0.29353	0.083;0.101	T	0.60657	-0.7220	10	0.41790	T	0.15	-0.1251	4.0071	0.09607	0.284:0.3889:0.3271:0.0	.	109;109	Q8IW14;Q6JVE5	.;LCN12_HUMAN	S	109;43	ENSP00000360696:G109S;ENSP00000360695:G43S	ENSP00000360695:G43S	G	+	1	0	LCN12	138968046	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.017000	0.03630	-1.722000	0.01377	0.313000	0.20887	GGT	0	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase		0.647	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN12	protein_coding	OTTHUMT00000257990.1	43	62	0	0.00	0	0	G	NM_178536	0	0		139848225	1	no_errors	ENST00000371633	ensembl	human	known	74_37	missense	31	47	20.51	18.97	8	11	SNP	0	A	A	139848225	G	A	139848225	3	1	97	1	0	0	0	0	1	0	0	0	8682	1116	39	2	335	2	LCN12	9	139848225	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	149201	139848225	1365206	378	1577											
ABCA2	20	genome.wustl.edu	37	chr9	139911670	139911670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcacttctcgaaggccGtgatcttatcatgcgccacc	8	10	9	14	4	3	1	1	1	2	0	4	3	3	1	3	1	2	1	3	1	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139911670G>A	ENST00000371605.3	-	17	2675	c.2528C>T	c.(2527-2529)aCg>aTg	p.T843M	ABCA2_ENST00000265662.5_Missense_Mutation_p.T844M|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.T844M			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	843					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)		CTCGAAGGCCGTGATCTTATC	0.652																																							0											0													55	63	60					9																	139911670		2167	4256	6423	SO:0001583	missense	0			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.2528C>T	9.37:g.139911670G>A	ENSP00000360666:p.Thr843Met		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T844M	ENST00000371605.3	37	c.2531		9	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719419	0.68844	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.84730	-1.89;-1.89;-1.89	4.61	4.61	0.57282	.	0.177563	0.48767	N	0.000162	D	0.91389	0.7283	M	0.68952	2.095	0.53688	D	0.999977	D;P	0.89917	1.0;0.845	D;B	0.80764	0.994;0.445	D	0.92436	0.5958	10	0.66056	D	0.02	.	17.4162	0.87500	0.0:0.0:1.0:0.0	.	843;874	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	M	844;843;874;844	ENSP00000265662:T844M;ENSP00000360666:T843M;ENSP00000344155:T844M	ENSP00000265662:T844M	T	-	2	0	ABCA2	139031491	1.000000	0.71417	0.988000	0.46212	0.827000	0.46813	9.708000	0.98727	2.116000	0.64780	0.313000	0.20887	ACG	0	NULL		0.652	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	protein_coding		23	63	0	0.00	0	0	G	NM_001606	0	0		139911670	-1	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	18	59	28	24.36	7	19	SNP	1	A	A	139911670	G	A	139911670	3	1	97	1	0	0	0	0	1	0	0	0	32	1145	40	1	4907	1	ABCA2	9	139911670	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	63445	139911670	1301761	379	1578											
ACBD5	91452	genome.wustl.edu	37	chr10	27524095	27524095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagttgcctgcttataGaagctataaaatttaagcat	13	14	6	8	0	1	1	1	0	0	1	1	1	1	1	2	0	4	4	2	0	7	8			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:27524095G>T	ENST00000375888.1	-	2	286	c.222C>A	c.(220-222)ttC>ttA	p.F74L	ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000476758.1_Intron|RNU7-12P_ENST00000516030.1_RNA|ACBD5_ENST00000375905.4_Missense_Mutation_p.F41L|AL160291.1_ENST00000578607.1_RNA|ACBD5_ENST00000396271.3_Missense_Mutation_p.F76L			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	74	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.|Acyl-CoA binding.				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						CCTGCTTATAGAAGCTATAAA	0.358																																							0											0													71	71	71					10																	27524095		2203	4299	6502	SO:0001583	missense	0			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.222C>A	10.37:g.27524095G>T	ENSP00000365049:p.Phe74Leu		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.F74L	ENST00000375888.1	37	c.222		10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984291	0.74474	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56	5.59	1.62	0.23740	.	0.046321	0.85682	D	0.000000	T	0.09247	0.0228	N	0.01242	-0.935	0.80722	D	1	D;D	0.76494	0.977;0.999	D;D	0.75020	0.935;0.985	T	0.40213	-0.9575	10	0.33940	T	0.23	-12.3514	5.4483	0.16548	0.3212:0.1452:0.5337:0.0	.	76;74	Q5T8D3-3;B7Z2R7	.;.	L	71;76;41;74;83;41	ENSP00000379568:F76L;ENSP00000365070:F41L;ENSP00000365049:F74L;ENSP00000401591:F83L;ENSP00000393398:F41L	ENSP00000365049:F74L	F	-	3	2	ACBD5	27564101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.351000	0.34022	0.396000	0.25283	0.585000	0.79938	TTC	0	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein		0.358	ACBD5-005	KNOWN	basic	protein_coding	ACBD5	protein_coding	OTTHUMT00000047314.1	109	294	0	0.00	0	0	G	NM_145698	0	0		27524095	-1	no_errors	ENST00000375888	ensembl	human	known	74_37	missense	45	265	35.71	27.20	25	99	SNP	1	T	T	27524095	G	T	27524095	3	4	97	1	0	0	0	0	1	0	0	0	125	933	33	5	1393	5	ACBD5	10	27524095	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09		27524095	108010652	380	1579											
RBP3	5949	genome.wustl.edu	37	chr10	48389493	48389493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcggctcccacacctggCgcaggacatatggggccaac	9	5	13	14	2	0	0	0	0	0	0	1	1	1	1	3	5	2	3	3	5	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:48389493C>T	ENST00000224600.4	-	1	1498	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	462	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)	CCACACCTGGCGCAGGACATA	0.627																																							0											0													50	46	47					10																	48389493		2203	4300	6503	SO:0001583	missense	0			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.1385G>A	10.37:g.48389493C>T	ENSP00000224600:p.Arg462His		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.R462H	ENST00000224600.4	37	c.1385	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603634	0.28534	.	.	ENSG00000107618	ENST00000224600	T	0.63580	-0.05	5.43	-0.103	0.13609	Interphotoreceptor retinol-binding (2);	0.584007	0.17545	N	0.170394	T	0.43831	0.1265	L	0.32530	0.975	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.25813	-1.0121	10	0.11794	T	0.64	-11.3249	10.3376	0.43858	0.0:0.4286:0.0:0.5714	.	462	P10745	RET3_HUMAN	H	462	ENSP00000224600:R462H	ENSP00000224600:R462H	R	-	2	0	RBP3	48009499	0.000000	0.05858	0.468000	0.27192	0.848000	0.48234	-1.056000	0.03489	-0.032000	0.13758	0.561000	0.74099	CGC	0	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	protein_coding	OTTHUMT00000047888.1	43	147	2.27	0.00	1	0	C	NM_002900	0	0		48389493	-1	no_errors	ENST00000224600	ensembl	human	known	74_37	missense	27	124	28.95	21.02	11	33	SNP	0	T	T	48389493	C	T	48389493	3	4	97	1	0	0	0	0	1	0	0	0	13157	768	27	1	2374	1	RBP3	10	48389493	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	20865398	48389493	87145254	381	1580											
FRMPD2	143162	genome.wustl.edu	37	chr10	49440315	49440315	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtccctgagagccaaataGgatttcccttttttggtctg	8	14	10	9	0	1	1	0	1	1	1	3	3	3	2	3	3	1	0	3	3	2	5	rs138922688		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:49440315G>T	ENST00000374201.3	-	10	1313	c.1011C>A	c.(1009-1011)tcC>tcA	p.S337S	FRMPD2_ENST00000407470.4_Silent_p.S306S|FRMPD2_ENST00000305531.3_Silent_p.S313S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	337					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)		GAGCCAAATAGGATTTCCCTT	0.433																																							0											0													70	66	68					10																	49440315		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1011C>A	10.37:g.49440315G>T			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.S337	ENST00000374201.3	37	c.1011	CCDS31195.1	10																																																																																			0	NULL		0.433	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	protein_coding	OTTHUMT00000047923.3	36	254	0	0.78	0	2	G	NM_152428	0	0		49440315	-1	no_errors	ENST00000374201	ensembl	human	known	74_37	silent	23	207	17.86	26.33	5	74	SNP	0.007	T	T	49440315	G	T	49440315	2	4	97	1	0	0	0	0	0	0	0	1	6058	987	35	5		5	FRMPD2	10	49440315	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1050822	49440315	86094432	382	1581											
C10orf71	118461	genome.wustl.edu	37	chr10	50532273	50532273	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctttctaaggagagaccCgctgatgaccccactgcatc	10	8	10	13	1	1	3	0	2	1	1	2	6	1	4	3	1	2	3	3	1	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:50532273C>T	ENST00000374144.3	+	3	1971	c.1683C>T	c.(1681-1683)ccC>ccT	p.P561P	C10orf71_ENST00000323868.4_Silent_p.P561P			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	561										endometrium(1)	1						AGGAGAGACCCGCTGATGACC	0.532																																							0											0													51	53	52					10																	50532273		1990	4154	6144	SO:0001819	synonymous_variant	0			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.1683C>T	10.37:g.50532273C>T			A0AVL8	Silent	SNP	NULL	p.P561	ENST00000374144.3	37	c.1683	CCDS44387.1	10																																																																																			0	NULL		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	protein_coding	OTTHUMT00000047984.2	20	176	0	0.00	0	0	C	NM_199459	0	0		50532273	1	no_errors	ENST00000374144	ensembl	human	known	74_37	silent	22	118	15.38	32.18	4	56	SNP	0	T	T	50532273	C	T	50532273	2	4	97	1	0	0	0	0	0	0	0	1	1614	639	23	2		2	C10orf71	10	50532273	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1091958	50532273	85002474	383	1582											
OGDHL	55753	genome.wustl.edu	37	chr10	50946024	50946024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcagcaggatctgccggCgcagcacgtggaagtagttg	9	6	17	9	3	1	0	0	0	1	0	1	2	1	2	1	4	3	6	1	4	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:50946024C>T	ENST00000374103.4	-	19	2571	c.2486G>A	c.(2485-2487)cGc>cAc	p.R829H	OGDHL_ENST00000419399.1_Missense_Mutation_p.R772H|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.R620H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	829					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						GATCTGCCGGCGCAGCACGTG	0.652																																							0											0													170	162	165					10																	50946024		2203	4300	6503	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2486G>A	10.37:g.50946024C>T	ENSP00000363216:p.Arg829His		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.R829H	ENST00000374103.4	37	c.2486	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.393228	0.96009	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.92495	-3.05;-3.05;-3.05	4.84	4.84	0.62591	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	H	0.97732	4.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.988;0.997	D	0.99585	1.0974	10	0.87932	D	0	.	17.9498	0.89048	0.0:1.0:0.0:0.0	.	772;620;829	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	829;772;620	ENSP00000363216:R829H;ENSP00000401356:R772H;ENSP00000390240:R620H	ENSP00000363216:R829H	R	-	2	0	OGDHL	50616030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.805000	0.86005	2.222000	0.72286	0.650000	0.86243	CGC	0	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.652	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	protein_coding	OTTHUMT00000048007.1	56	74	0	0.00	0	0	C	NM_018245	0	0		50946024	-1	no_errors	ENST00000374103	ensembl	human	known	74_37	missense	48	48	21.31	27.27	13	18	SNP	1	T	T	50946024	C	T	50946024	3	4	97	1	0	0	0	0	1	0	0	0	10840	768	27	1	566	1	OGDHL	10	50946024	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	413751	50946024	84588723	384	1583											
ANK3	288	genome.wustl.edu	37	chr10	61840358	61840358	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggatgcgaagctctgtcGtctatctgttttctcaatct	8	16	8	9	2	5	0	1	0	5	0	7	2	5	1	0	1	2	2	0	1	4	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:61840358G>A	ENST00000280772.2	-	36	4560	c.4369C>T	c.(4369-4371)Cga>Tga	p.R1457*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.R1449*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R1442*|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000355288.2_Nonsense_Mutation_p.R582*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1457					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						AAGCTCTGTCGTCTATCTGTT	0.388																																							0											0													88	80	83					10																	61840358		2203	4300	6503	SO:0001587	stop_gained	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4369C>T	10.37:g.61840358G>A	ENSP00000280772:p.Arg1457*		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.R1457*	ENST00000280772.2	37	c.4369	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.863390	0.99702	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304	.	.	.	5.36	5.36	0.76844	.	0.000000	0.34628	N	0.003814	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0941	0.93242	0.0:0.0:1.0:0.0	.	.	.	.	X	1457;1442;40;582;582;1449;1428;683;1083;1083	.	ENSP00000280772:R1457X	R	-	1	2	ANK3	61510364	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.767000	0.74975	2.508000	0.84585	0.563000	0.77884	CGA	0	NULL		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	58	88	0	0.00	0	0	G	NM_020987	0	0		61840358	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	nonsense	40	94	18.37	25.20	9	32	SNP	1	A	A	61840358	G	A	61840358	4	1	97	1	0	0	0	0	0	1	0	0	622	1153	40	1	9109	1	ANK3	10	61840358	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	10894334	61840358	73694389	385	1584											
ANK3	288	genome.wustl.edu	37	chr10	61843307	61843307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaagttaaaaacaagttgCtgtcctcctttggtaagtgg	13	13	9	6	0	0	0	0	0	0	0	2	0	2	0	2	2	2	4	2	2	7	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:61843307C>T	ENST00000280772.2	-	33	4334	c.4143G>A	c.(4141-4143)caG>caA	p.Q1381Q	ANK3_ENST00000503366.1_Silent_p.Q1382Q|ANK3_ENST00000373827.2_Silent_p.Q1375Q|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000355288.2_Silent_p.Q515Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1381	UPA domain. {ECO:0000250}.				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						AAACAAGTTGCTGTCCTCCTT	0.313																																							0											0													52	54	53					10																	61843307		2202	4293	6495	SO:0001819	synonymous_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4143G>A	10.37:g.61843307C>T			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.Q1381	ENST00000280772.2	37	c.4143	CCDS7258.1	10																																																																																			0	NULL		0.313	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	153	397	0	0.00	0	0	C	NM_020987	0	0		61843307	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	90	273	30.77	35.68	40	152	SNP	1	T	T	61843307	C	T	61843307	2	4	97	1	0	0	0	0	0	0	0	1	622	796	28	3		3	ANK3	10	61843307	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2949	61843307	73691440	386	1585											
DNA2	1763	genome.wustl.edu	37	chr10	70182065	70182065	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagaatagtcagcataaaAttccagttccagcttcacat	15	11	5	10	0	3	1	3	0	0	1	5	1	5	1	2	0	2	3	2	0	4	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:70182065A>T	ENST00000358410.3	-	17	2664	c.2614T>A	c.(2614-2616)Ttt>Att	p.F872I	DNA2_ENST00000399180.2_Missense_Mutation_p.F958I|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	872	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						TCAGCATAAAATTCCAGTTCC	0.388																																							0											0													86	83	84					10																	70182065		1886	4114	6000	SO:0001583	missense	0			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.2614T>A	10.37:g.70182065A>T	ENSP00000351185:p.Phe872Ile		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase	p.F958I	ENST00000358410.3	37	c.2872		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.12|11.12	1.545599|1.545599	0.27652|0.27652	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000399180;ENST00000358410|ENST00000440722	D;D|.	0.91740|.	-2.9;-2.87|.	4.93|4.93	-0.758|-0.758	0.11049|0.11049	.|.	1.020610|.	0.07797|.	N|.	0.955912|.	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.16368|0.16368	0.405|0.405	0.09310|0.09310	N|N	0.999992|0.999992	B|.	0.09022|.	0.002|.	B|.	0.12156|.	0.007|.	T|T	0.25257|0.25257	-1.0137|-1.0137	10|5	0.27785|.	T|.	0.31|.	.|.	2.9845|2.9845	0.05964|0.05964	0.5759:0.1605:0.1627:0.1009|0.5759:0.1605:0.1627:0.1009	.|.	872|.	P51530|.	DNA2L_HUMAN|.	I|N	958;872|193	ENSP00000382133:F958I;ENSP00000351185:F872I|.	ENSP00000351185:F872I|.	F|I	-|-	1|2	0|0	DNA2|DNA2	69852071|69852071	0.156000|0.156000	0.22821|0.22821	0.999000|0.999000	0.59377|0.59377	0.962000|0.962000	0.63368|0.63368	0.405000|0.405000	0.21015|0.21015	0.177000|0.177000	0.19895|0.19895	0.533000|0.533000	0.62120|0.62120	TTT|ATT	0	superfamily_P-loop_NTPase		0.388	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	protein_coding	OTTHUMT00000048334.2	65	333	0	0.30	0	1	A		0	0		70182065	-1	no_errors	ENST00000399180	ensembl	human	known	74_37	missense	48	236	21.31	29.55	13	99	SNP	0.118	T	T	70182065	A	T	70182065	3	4	97	1	0	0	0	0	1	0	0	0	4596	101	4	5	588	5	DNA2	10	70182065	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	8338758	70182065	65352682	387	1586											
TET1	80312	genome.wustl.edu	37	chr10	70404878	70404878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaattcctaaaagacactGcaaaccataaaaacgctatg	20	8	4	9	1	0	1	0	0	0	1	1	1	1	1	2	0	3	2	2	0	9	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:70404878G>A	ENST00000373644.4	+	4	2601	c.2392G>A	c.(2392-2394)Gca>Aca	p.A798T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	798					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						AAAAGACACTGCAAACCATAA	0.348																																							0											0													82	83	83					10																	70404878		2203	4300	6503	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2392G>A	10.37:g.70404878G>A	ENSP00000362748:p.Ala798Thr		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.A798T	ENST00000373644.4	37	c.2392	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045400	0.19748	.	.	ENSG00000138336	ENST00000373644	T	0.07114	3.22	5.92	1.42	0.22433	.	0.830589	0.10477	N	0.670044	T	0.03477	0.0100	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.47861	-0.9084	10	0.10377	T	0.69	.	2.9255	0.05783	0.3432:0.0:0.4527:0.2041	.	798	Q8NFU7	TET1_HUMAN	T	798	ENSP00000362748:A798T	ENSP00000362748:A798T	A	+	1	0	TET1	70074884	0.000000	0.05858	0.031000	0.17742	0.878000	0.50629	0.023000	0.13533	0.386000	0.24997	0.650000	0.86243	GCA	0	NULL		0.348	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	51	279	1.92	0.36	1	1	G	NM_030625	0	0		70404878	1	no_errors	ENST00000373644	ensembl	human	known	74_37	missense	33	250	25	25.15	11	84	SNP	0.001	A	A	70404878	G	A	70404878	3	1	97	1	0	0	0	0	1	0	0	0	15766	1319	46	3	2402	3	TET1	10	70404878	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	222813	70404878	65129869	388	1587											
TET1	80312	genome.wustl.edu	37	chr10	70406647	70406647	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacatcagaattttccacAgtggacagtgcacagaaaaa	17	7	9	8	0	1	2	1	0	0	2	2	4	2	4	1	2	2	1	1	2	4	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:70406647A>G	ENST00000373644.4	+	4	4370	c.4161A>G	c.(4159-4161)acA>acG	p.T1387T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1387					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						AATTTTCCACAGTGGACAGTG	0.368																																							0											0													87	89	88					10																	70406647		2203	4300	6503	SO:0001819	synonymous_variant	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4161A>G	10.37:g.70406647A>G			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.T1387	ENST00000373644.4	37	c.4161	CCDS7281.1	10																																																																																			0	NULL		0.368	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	97	299	0	0.00	0	0	A	NM_030625	0	0		70406647	1	no_errors	ENST00000373644	ensembl	human	known	74_37	silent	71	216	19.32	26.51	17	79	SNP	0.026	G	G	70406647	A	G	70406647	2	3	97	1	0	0	0	0	0	0	0	1	15766	175	7	4		4	TET1	10	70406647	Silent	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	1769	70406647	65128100	389	1588											
RGR	5995	genome.wustl.edu	37	chr10	86017732	86017732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatacgcagtcatcgcagaCgtgacttccatctcccccaa	10	9	6	16	3	2	2	1	1	1	1	5	2	3	2	3	0	1	2	3	0	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:86017732C>T	ENST00000359452.4	+	6	764	c.726C>T	c.(724-726)gaC>gaT	p.D242D	RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	238					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						TCATCGCAGACGTGACTTCCA	0.507																																					NSCLC(15;204 545 5889 6385 32445)		0											0													88	76	80					10																	86017732		2203	4300	6503	SO:0001819	synonymous_variant	0			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.726C>T	10.37:g.86017732C>T			A6NKK7|Q96FC5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR,prints_GPCR_Rhodpsn	p.D242	ENST00000359452.4	37	c.726	CCDS7374.1	10																																																																																			0	pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR		0.507	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	protein_coding	OTTHUMT00000049116.1	33	128	0	0.00	0	0	C	NM_002921	0	0		86017732	1	no_errors	ENST00000359452	ensembl	human	known	74_37	silent	21	107	43.24	33.12	16	53	SNP	0.043	T	T	86017732	C	T	86017732	2	4	97	1	0	0	0	0	0	0	0	1	13291	535	19	1		1	RGR	10	86017732	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	15611085	86017732	49517015	390	1589											
TNKS2	80351	genome.wustl.edu	37	chr10	93590871	93590871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctaagattcttgactcCtctgcacgtggcatctgaga	8	13	8	12	1	4	3	0	2	4	2	6	4	5	3	1	1	1	2	1	1	1	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:93590871C>A	ENST00000371627.4	+	11	1587	c.1208C>A	c.(1207-1209)cCt>cAt	p.P403H		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	403					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)				TTCTTGACTCCTCTGCACGTG	0.333																																							0											0													196	189	191					10																	93590871		2203	4300	6503	SO:0001583	missense	0			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.1208C>A	10.37:g.93590871C>A	ENSP00000360689:p.Pro403His		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.P403H	ENST00000371627.4	37	c.1208	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848431	0.91277	.	.	ENSG00000107854	ENST00000371627	T	0.71461	-0.57	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000011	D	0.90628	0.7061	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93299	0.6675	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	403	Q9H2K2	TNKS2_HUMAN	H	403	ENSP00000360689:P403H	ENSP00000360689:P403H	P	+	2	0	TNKS2	93580851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.718000	0.92993	0.655000	0.94253	CCT	0	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.333	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	protein_coding	OTTHUMT00000049374.1	57	223	0	0.00	0	0	C	NM_025235	0	0		93590871	1	no_errors	ENST00000371627	ensembl	human	known	74_37	missense	43	213	20.37	25.61	11	74	SNP	1	A	A	93590871	C	A	93590871	3	1	97	1	0	0	0	0	1	0	0	0	16318	681	24	5	1250	5	TNKS2	10	93590871	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7573139	93590871	41943876	391	1590											
EXOC6	54536	genome.wustl.edu	37	chr10	94608366	94608366	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagatcgagagcaccgacAccgcctgtgtggggcccacc	9	4	14	14	3	0	2	0	0	0	2	1	5	0	2	5	3	1	1	5	3	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:94608366A>T	ENST00000260762.6	+	1	90	c.76A>T	c.(76-78)Acc>Tcc	p.T26S	EXOC6_ENST00000371547.4_Intron|EXOC6_ENST00000443748.2_Missense_Mutation_p.T26S|EXOC6_ENST00000371552.4_Intron|EXOC6_ENST00000371543.1_Missense_Mutation_p.T26S	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	26					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)				GAGCACCGACACCGCCTGTGT	0.692																																							0											0													34	25	28					10																	94608366		2196	4292	6488	SO:0001583	missense	0			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.76A>T	10.37:g.94608366A>T	ENSP00000260762:p.Thr26Ser		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.T26S	ENST00000260762.6	37	c.76	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	A	10.29	1.308866	0.23821	.	.	ENSG00000138190	ENST00000371543;ENST00000443748;ENST00000260762	T;T	0.30182	1.54;1.94	3.94	3.94	0.45596	.	0.290655	0.30676	N	0.009108	T	0.33440	0.0863	N	0.26042	0.785	0.27186	N	0.960546	P;B	0.52842	0.956;0.003	P;B	0.62184	0.899;0.017	T	0.10428	-1.0630	10	0.09084	T	0.74	-3.8981	12.0605	0.53561	1.0:0.0:0.0:0.0	.	26;26	E7EW84;Q8TAG9	.;EXOC6_HUMAN	S	26	ENSP00000396206:T26S;ENSP00000260762:T26S	ENSP00000260762:T26S	T	+	1	0	EXOC6	94598346	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.123000	0.71614	1.549000	0.49425	0.260000	0.18958	ACC	0	pirsf_Sec15		0.692	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	protein_coding	OTTHUMT00000049410.2	41	96	0	0.00	0	0	A	NM_019053	0	0		94608366	1	no_errors	ENST00000260762	ensembl	human	known	74_37	missense	17	45	46.88	45.88	15	39	SNP	1	T	T	94608366	A	T	94608366	3	4	97	1	0	0	0	0	1	0	0	0	5308	159	6	5	168	5	EXOC6	10	94608366	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	1017495	94608366	40926381	392	1591											
CYP26A1	1592	genome.wustl.edu	37	chr10	94833787	94833787	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctctgggacctgtactgCgtgagcggccgcgaccgcag	7	6	15	13	5	1	1	0	1	1	0	1	3	1	2	3	2	4	3	3	2	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:94833787C>T	ENST00000224356.4	+	1	141	c.96C>T	c.(94-96)tgC>tgT	p.C32C	CYP26A1_ENST00000371531.1_Intron|CYP26A1_ENST00000394139.1_5'UTR	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	32					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)	ACCTGTACTGCGTGAGCGGCC	0.657																																							0											0													23	25	25					10																	94833787		2201	4299	6500	SO:0001819	synonymous_variant	0			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.96C>T	10.37:g.94833787C>T			B3KNI4|Q5VXH9|Q5VXI0	Silent	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.C32	ENST00000224356.4	37	c.96	CCDS7426.1	10																																																																																			0	NULL		0.657	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP26A1	protein_coding	OTTHUMT00000049408.3	93	71	0	0.00	0	0	C		0	0		94833787	1	no_errors	ENST00000224356	ensembl	human	known	74_37	silent	61	51	29.07	23.88	25	16	SNP	0.987	T	T	94833787	C	T	94833787	2	4	97	1	0	0	0	0	0	0	0	1	4155	776	27	1		1	CYP26A1	10	94833787	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	225421	94833787	40700960	393	1592											
ZDHHC16	84287	genome.wustl.edu	37	chr10	99215505	99215507	+	In_Frame_Del	DEL	AAG	AAG	-																															gcatcgaaaggcacatcaacAagaaggagagacgtcggcta																								rs146287872	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AAG	AAG	AAG	-	AAG	AAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:99215505_99215507delAAG	ENST00000370854.3	+	9	1102_1104	c.913_915delAAG	c.(913-915)aagdel	p.K306del	ZDHHC16_ENST00000370842.2_In_Frame_Del_p.K290del|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_In_Frame_Del_p.K225del|ZDHHC16_ENST00000352634.4_In_Frame_Del_p.K290del|ZDHHC16_ENST00000393760.1_In_Frame_Del_p.K306del|ZDHHC16_ENST00000353979.3_In_Frame_Del_p.K267del|ZDHHC16_ENST00000370846.4_In_Frame_Del_p.K236del	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	306					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)		GCACATCAACAAGAAGGAGAGAC	0.532																																							0											0									,,,,	1,4261		0,1,2130					,,,,	6.1	1			147	0,8254		0,0,4127	no	coding,coding,coding,coding,coding	ZDHHC16	NM_198046.1,NM_198045.1,NM_198044.1,NM_198043.1,NM_032327.2	,,,,	0,1,6257	A1A1,A1R,RR		0.0,0.0235,0.0080	,,,,	,,,,		1,12515				SO:0001651	inframe_deletion	0			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.913_915delAAG	10.37:g.99215508_99215510delAAG	ENSP00000359891:p.Lys306del		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	In_Frame_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.K306in_frame_del	ENST00000370854.3	37	c.913_915	CCDS7460.1	10																																																																																			0	NULL		0.532	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC16	protein_coding	OTTHUMT00000049658.2	45	119	0	0.00	0	0	AAG	NM_032327	0	0		99215507	1	no_errors	ENST00000370854	ensembl	human	known	74_37	in_frame_del	20	99	31.03	18.85	9	23	DEL	1.000:0.988:0.995	0	-	99215507	AAG	-	99215505	7	5	97	1	0	1	0	1	0	0	0	0	17603	131	5	0	943	0	ZDHHC16	10	99215505	In_Frame_Del	DEL	AAG	TCGA-ZB-A966-01A-11D-A428-09	4381718	99215505	36319242	394	1593											
ABCC2	1244	genome.wustl.edu	37	chr10	101604103	101604103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggtgactgataagaggCctccgccagattggcccagc	8	7	13	13	1	0	4	0	2	0	2	1	4	1	4	5	3	1	0	5	3	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:101604103C>T	ENST00000370449.4	+	28	3981	c.3868C>T	c.(3868-3870)Cct>Tct	p.P1290S		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1290					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)	TGATAAGAGGCCTCCGCCAGA	0.532																																							0											0													94	88	90					10																	101604103		2203	4300	6503	SO:0001583	missense	0			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.3868C>T	10.37:g.101604103C>T	ENSP00000359478:p.Pro1290Ser		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.P1290S	ENST00000370449.4	37	c.3868	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.088280	0.94100	.	.	ENSG00000023839	ENST00000370449	D	0.90261	-2.64	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95112	0.8239	10	0.87932	D	0	-3.2719	20.04	0.97581	0.0:1.0:0.0:0.0	.	1290	Q92887	MRP2_HUMAN	S	1290	ENSP00000359478:P1290S	ENSP00000359478:P1290S	P	+	1	0	ABCC2	101594093	1.000000	0.71417	0.995000	0.50966	0.804000	0.45430	7.523000	0.81856	2.733000	0.93635	0.655000	0.94253	CCT	0	superfamily_P-loop_NTPase,tigrfam_Multidrug-R_assoc		0.532	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	protein_coding	OTTHUMT00000049825.1	41	161	0	0.00	0	0	C	NM_000392	0	0		101604103	1	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	28	124	25.64	28.74	10	50	SNP	1	T	T	101604103	C	T	101604103	3	4	97	1	0	0	0	0	1	0	0	0	53	739	26	3	3978	3	ABCC2	10	101604103	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2388598	101604103	33930644	395	1594											
DNMBP	23268	genome.wustl.edu	37	chr10	101636972	101636972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttcccgttaacctcaGctaaccaccactctgtattt	8	14	3	16	1	3	0	1	0	2	0	4	0	4	0	5	0	3	3	5	0	3	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:101636972G>A	ENST00000324109.4	-	17	4761	c.4670C>T	c.(4669-4671)gCt>gTt	p.A1557V	DNMBP_ENST00000342239.3_Missense_Mutation_p.A1581V|DNMBP_ENST00000543621.1_Missense_Mutation_p.A803V|DNMBP_ENST00000540316.1_Missense_Mutation_p.A493V	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1557	SH3 6. {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)		GTTAACCTCAGCTAACCACCA	0.498																																							0											0													215	177	190					10																	101636972		2203	4300	6503	SO:0001583	missense	0			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.4670C>T	10.37:g.101636972G>A	ENSP00000315659:p.Ala1557Val		Q8IVY3|Q9Y2L3	Missense_Mutation	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.A1581V	ENST00000324109.4	37	c.4742	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428474	0.83667	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	4.99	4.99	0.66335	Src homology-3 domain (4);	0.000000	0.47093	D	0.000244	T	0.55162	0.1903	L	0.35542	1.07	0.47659	D	0.999487	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.993;0.979;0.941	T	0.55283	-0.8165	10	0.46703	T	0.11	-13.441	18.6352	0.91376	0.0:0.0:1.0:0.0	.	1557;803;1581	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	V	1581;1557;803;803;493	ENSP00000344914:A1581V;ENSP00000315659:A1557V;ENSP00000443657:A803V;ENSP00000443573:A493V	ENSP00000315659:A1557V	A	-	2	0	DNMBP	101626962	1.000000	0.71417	0.894000	0.35097	0.884000	0.51177	4.129000	0.57957	2.464000	0.83262	0.491000	0.48974	GCT	0	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3		0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	protein_coding	OTTHUMT00000049832.2	103	222	0	0.45	0	1	G	NM_015221	0	0		101636972	-1	no_errors	ENST00000342239	ensembl	human	known	74_37	missense	76	193	25.49	29.45	26	81	SNP	0.996	A	A	101636972	G	A	101636972	3	1	97	1	0	0	0	0	1	0	0	0	4674	971	34	3	67	3	DNMBP	10	101636972	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	32869	101636972	33897775	396	1595											
FAM178A	55719	genome.wustl.edu	37	chr10	102690753	102690753	+	Frame_Shift_Del	DEL	T	T	-																															atcgggaaaaacagatcagaTttttttgacaacacaaggtt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:102690753delT	ENST00000238961.4	+	9	2896	c.2354delT	c.(2353-2355)attfs	p.I785fs	FAM178A_ENST00000370269.3_Frame_Shift_Del_p.I785fs	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	785						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											ACAGATCAGATTTTTTTGACA	0.378																																							0											0													186	176	179					10																	102690753		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2354delT	10.37:g.102690753delT	ENSP00000238961:p.Ile785fs		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Frame_Shift_Del	DEL	NULL	p.L787fs	ENST00000238961.4	37	c.2354	CCDS7500.1	10																																																																																			0	NULL		0.378	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	protein_coding	OTTHUMT00000049897.3	93	286	0	0.00	0	0	T		0	0		102690753	1	no_errors	ENST00000370269	ensembl	human	known	74_37	frame_shift_del	57	232	26.92	31.76	21	108	DEL	1	0	-	102690753	T	-	102690753	7	5	97	1	0	1	0	1	0	0	0	0	5503	1493	52	0	2388	0	FAM178A	10	102690753	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	1053781	102690753	32843994	397	1596											
PDZD7	79955	genome.wustl.edu	37	chr10	102789810	102789811	+	Frame_Shift_Ins	INS	-	-	G																															cgatgaggctcggattccgcINSgggggggcccgttcagcagc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:102789810_102789811insG	ENST00000370215.3	-	2	391_392	c.166_167insC	c.(166-168)cgcfs	p.R56fs	SFXN3_ENST00000393459.1_5'Flank|SFXN3_ENST00000224807.5_5'Flank|PDZD7_ENST00000470414.1_Frame_Shift_Ins_p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TCGGATTCCGCGGGGGGGCCCG	0.663																																							0											1	Substitution - Missense(1)	breast(1)																																								SO:0001589	frameshift_variant	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.167dupC	10.37:g.102789817_102789817dupG	ENSP00000359234:p.Arg56fs		D5FJ77|Q8N321	Frame_Shift_Ins	INS	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R56fs	ENST00000370215.3	37	c.167_166	CCDS31269.1	10																																																																																			0	superfamily_PDZ		0.663	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	protein_coding	OTTHUMT00000049883.1	153	113	0	0.00	0	0	0	NM_024895	0	0		102789811	-1	no_errors	ENST00000370215	ensembl	human	known	74_37	frame_shift_ins	82	125	24.07	14.97	26	22	INS	0.996:0.998	G	G	102789811	-	G	102789810	7	5	97	1	0	1	1	0	0	0	0	0	11704	768	27	0	1422	0	PDZD7	10	102789810	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	99057	102789810	32744937	398	1597											
COL17A1	1308	genome.wustl.edu	37	chr10	105803591	105803591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgcctacccgaagtcAcgatcttgcctggagctcct	7	9	10	15	2	2	0	1	0	1	0	3	4	3	2	5	2	4	1	5	2	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:105803591A>G	ENST00000353479.5	-	34	2716	c.2426T>C	c.(2425-2427)gTg>gCg	p.V809A	COL17A1_ENST00000369733.3_Missense_Mutation_p.V809A	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	809	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)		ACCCGAAGTCACGATCTTGCC	0.517																																							0											0													131	121	124					10																	105803591		2203	4300	6503	SO:0001583	missense	0			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.2426T>C	10.37:g.105803591A>G	ENSP00000340937:p.Val809Ala		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.V809A	ENST00000353479.5	37	c.2426	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223587	0.58668	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.93906	-3.31;-3.31	5.31	4.19	0.49359	.	0.521154	0.15803	N	0.243864	D	0.83330	0.5231	N	0.04335	-0.225	0.23834	N	0.996712	B	0.23650	0.089	B	0.32211	0.142	T	0.70930	-0.4738	10	0.14252	T	0.57	0.0825	7.9807	0.30181	0.9071:0.0:0.0929:0.0	.	809	Q9UMD9	COHA1_HUMAN	A	809	ENSP00000340937:V809A;ENSP00000358748:V809A	ENSP00000340937:V809A	V	-	2	0	COL17A1	105793581	0.069000	0.21087	0.035000	0.18076	0.943000	0.58893	3.854000	0.55949	0.969000	0.38237	0.454000	0.30748	GTG	0	NULL		0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	protein_coding	OTTHUMT00000050181.1	38	178	0	0.00	0	0	A	NM_130778, NM_000494	0	0		105803591	-1	no_errors	ENST00000353479	ensembl	human	known	74_37	missense	33	151	25	28.44	11	60	SNP	0.153	G	G	105803591	A	G	105803591	3	3	97	1	0	0	0	0	1	0	0	0	3674	159	6	3	2159	3	COL17A1	10	105803591	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	3013781	105803591	29731156	399	1598											
XPNPEP1	7511	genome.wustl.edu	37	chr10	111630571	111630572	+	Frame_Shift_Ins	INS	-	-	A																															aaggaccctcatggacattcINSaaaaaagacccaacaccatg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:111630571_111630572insA	ENST00000502935.1	-	18	1732_1733	c.1613_1614insT	c.(1612-1614)ttgfs	p.L538fs	XPNPEP1_ENST00000369680.4_Frame_Shift_Ins_p.L495fs|XPNPEP1_ENST00000369683.1_Frame_Shift_Ins_p.L424fs|XPNPEP1_ENST00000322238.8_Frame_Shift_Ins_p.L514fs|U4_ENST00000607255.1_RNA					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)		CATGGACATTCAAAAAAGACCC	0.48																																							0											0																																										SO:0001589	frameshift_variant	0				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.1614dupT	10.37:g.111630577_111630577dupA	ENSP00000421566:p.Leu538fs			Frame_Shift_Ins	INS	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.L538fs	ENST00000502935.1	37	c.1614_1613	CCDS7560.2	10																																																																																			0	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.48	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	protein_coding	OTTHUMT00000050264.2	39	155	0	0.00	0	0	0		0	0		111630572	-1	no_errors	ENST00000502935	ensembl	human	known	74_37	frame_shift_ins	24	178	20	23.93	6	56	INS	1.000:1.000	A	A	111630572	-	A	111630571	7	5	97	1	0	1	1	0	0	0	0	0	17439	825	29	0	402	0	XPNPEP1	10	111630571	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	5826980	111630571	23904176	400	1599											
C10orf96	374355	genome.wustl.edu	37	chr10	118084848	118084848	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccagatgtcgtgaaaaaaTtaagaaagcaacggaggagc	19	5	11	6	2	0	3	0	1	0	2	1	5	0	5	1	2	4	1	1	2	7	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:118084848T>A	ENST00000333254.3	+	3	364	c.113T>A	c.(112-114)aTt>aAt	p.I38N	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	38																	CGTGAAAAAATTAAGAAAGCA	0.338																																							0											0													64	70	68					10																	118084848		2203	4300	6503	SO:0001583	missense	0			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 96"	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.113T>A	10.37:g.118084848T>A	ENSP00000329860:p.Ile38Asn			Missense_Mutation	SNP	NULL	p.I38N	ENST00000333254.3	37	c.113	CCDS31291.1	10	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591678	0.66219	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.49	5.49	0.81192	.	0.260691	0.37483	N	0.002077	T	0.67258	0.2874	M	0.72118	2.19	0.37430	D	0.913975	P	0.48503	0.911	P	0.52554	0.702	T	0.75739	-0.3212	9	0.87932	D	0	-11.8394	12.2707	0.54704	0.0:0.0:0.0:1.0	.	38	P0C7W6	CJ096_HUMAN	N	38	.	ENSP00000329860:I38N	I	+	2	0	C10orf96	118074838	0.970000	0.33590	0.539000	0.28077	0.757000	0.42996	2.550000	0.45811	2.207000	0.71202	0.533000	0.62120	ATT	0	NULL		0.338	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC172	protein_coding	OTTHUMT00000050516.2	106	195	0	0.00	0	0	T	NM_198515	0	0		118084848	1	no_errors	ENST00000333254	ensembl	human	known	74_37	missense	67	168	31.63	32.94	31	83	SNP	0.959	A	A	118084848	T	A	118084848	3	1	97	1	0	0	0	0	1	0	0	0	1627	1493	52	5	119	5	C10orf96	10	118084848	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	6454277	118084848	17449899	401	1600											
PDZD8	118987	genome.wustl.edu	37	chr10	119100598	119100598	+	Frame_Shift_Del	DEL	A	A	-																															ccttgcaaggtctggtatggAaaaaacggcttaaacctgac																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:119100598delA	ENST00000334464.5	-	2	1127	c.888delT	c.(886-888)tttfs	p.F296fs		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	296					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTGGTATGGAAAAAACGGCT	0.353																																							0											0													125	112	117					10																	119100598		2203	4300	6503	SO:0001589	frameshift_variant	0			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.888delT	10.37:g.119100598delA	ENSP00000334642:p.Phe296fs		Q86WE0|Q86WE5|Q9UFF1	Frame_Shift_Del	DEL	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.P297fs	ENST00000334464.5	37	c.888	CCDS7600.1	10																																																																																			0	NULL		0.353	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	protein_coding	OTTHUMT00000050565.1	170	265	0	0.00	0	0	A	NM_173791	0	0		119100598	-1	no_errors	ENST00000334464	ensembl	human	known	74_37	frame_shift_del	83	243	25.89	22.36	29	70	DEL	0.998	0	-	119100598	A	-	119100598	7	5	97	1	0	1	0	1	0	0	0	0	11705	243	9	0	2592	0	PDZD8	10	119100598	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	1015750	119100598	16434149	402	1601											
TACC2	10579	genome.wustl.edu	37	chr10	123842741	123842741	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgcagagtccaggcagggGgtggcttctgtgcaagtgac	7	8	16	10	0	1	2	0	1	1	1	2	2	2	2	2	4	2	4	2	4	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:123842741G>A	ENST00000369005.1	+	4	1066	c.726G>A	c.(724-726)ggG>ggA	p.G242G	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.G242G|TACC2_ENST00000334433.3_Silent_p.G242G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.G242G|TACC2_ENST00000515273.1_Silent_p.G242G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	242					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)				CCAGGCAGGGGGTGGCTTCTG	0.627																																							0											0													33	39	37					10																	123842741		2203	4300	6503	SO:0001819	synonymous_variant	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.726G>A	10.37:g.123842741G>A			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.G242	ENST00000369005.1	37	c.726	CCDS7626.1	10																																																																																			0	NULL		0.627	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	41	78	0	0.00	0	0	G		0	0		123842741	1	no_errors	ENST00000334433	ensembl	human	known	74_37	silent	22	54	33.33	26.03	11	19	SNP	0	A	A	123842741	G	A	123842741	2	1	97	1	0	0	0	0	0	0	0	1	15499	1219	43	3		3	TACC2	10	123842741	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	4742143	123842741	11692006	403	1602											
CARS	833	genome.wustl.edu	37	chr11	3039682	3039682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgactccatggtgttgcTggagtagtccagggtgtcct	5	12	14	10	1	0	1	0	1	0	0	3	2	3	2	3	3	1	4	3	3	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:3039682T>C	ENST00000397111.5	-	13	1581	c.1336A>G	c.(1336-1338)Agc>Ggc	p.S446G	CARS_ENST00000401769.3_Missense_Mutation_p.S459G|CARS_ENST00000397114.3_Missense_Mutation_p.S436G|CARS_ENST00000380525.4_Missense_Mutation_p.S529G|CARS_ENST00000278224.9_Missense_Mutation_p.S446G			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	446					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)	ATGGTGTTGCTGGAGTAGTCC	0.592			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)		0		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													70	59	63					11																	3039682		2202	4298	6500	SO:0001583	missense	0			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.1336A>G	11.37:g.3039682T>C	ENSP00000380300:p.Ser446Gly		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.S529G	ENST00000397111.5	37	c.1585	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850182	0.32699	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.44482	0.92;0.93;0.93;0.93;0.93	4.9	2.59	0.31030	.	0.261107	0.43260	D	0.000593	T	0.34454	0.0898	L	0.42581	1.335	0.37100	D	0.899854	B;B;B;B;B;B	0.28208	0.124;0.132;0.152;0.203;0.182;0.152	B;B;B;B;B;B	0.36766	0.068;0.158;0.232;0.149;0.132;0.232	T	0.31779	-0.9931	10	0.54805	T	0.06	-18.5093	4.3791	0.11284	0.1462:0.1688:0.0:0.685	.	459;529;446;446;529;436	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	G	529;446;446;436;459	ENSP00000369897:S529G;ENSP00000380300:S446G;ENSP00000278224:S446G;ENSP00000380303:S436G;ENSP00000384069:S459G	ENSP00000278224:S446G	S	-	1	0	CARS	2996258	0.381000	0.25140	0.653000	0.29593	0.750000	0.42670	0.598000	0.24074	0.730000	0.32425	0.533000	0.62120	AGC	0	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Cys-tRNA-ligase		0.592	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	protein_coding	OTTHUMT00000030117.4	32	102	0	0.00	0	0	T	NM_001751	0	0		3039682	-1	no_errors	ENST00000380525	ensembl	human	known	74_37	missense	25	77	21.88	23.53	7	24	SNP	0.442	C	C	3039682	T	C	3039682	3	2	97	1	0	0	0	0	1	0	0	0	2657	1580	55	4	958	4	CARS	11	3039682	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09		3039682	131966834	404	1603											
OR51E1	143503	genome.wustl.edu	37	chr11	4674217	4674217	+	Frame_Shift_Del	DEL	G	G	-																															tggtgtggctgctgtggtgcGgggggctgcactgatggcac																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:4674217delG	ENST00000396952.5	+	2	1111	c.461delG	c.(460-462)cggfs	p.R154fs	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A155fs*3(1)		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)		GCTGTGGTGCGGGGGGCTGCA	0.557																																							0											1	Deletion - Frameshift(1)	ovary(1)											118	100	106					11																	4674217		2201	4298	6499	SO:0001589	frameshift_variant	0			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	ENST00000396952.5:c.461delG	11.37:g.4674217delG	ENSP00000380155:p.Arg154fs		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A156fs	ENST00000396952.5	37	c.461	CCDS31358.2	11																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E1	protein_coding	OTTHUMT00000347136.2	26	103	0	0.00	0	0	G	NM_152430	0	0		4674217	1	no_errors	ENST00000396952	ensembl	human	known	74_37	frame_shift_del	15	103	25	26.95	5	38	DEL	0.966	0	-	4674217	G	-	4674217	7	5	97	1	0	1	0	1	0	0	0	0	11094	1116	39	0	463	0	OR51E1	11	4674217	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	1634535	4674217	130332299	405	1604											
OR52J3	119679	genome.wustl.edu	37	chr11	5068663	5068663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccaaacagattcgagaacGagtgctctatgtttttacta	13	12	8	8	2	1	2	0	0	1	2	2	5	1	2	1	0	4	2	1	0	5	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:5068663G>A	ENST00000380370.1	+	1	908	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	303						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(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCGAGAACGAGTGCTCTAT	0.383																																							0											0													54	51	52					11																	5068663		2201	4297	6498	SO:0001583	missense	0			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.908G>A	11.37:g.5068663G>A	ENSP00000369728:p.Arg303Gln		Q6IFE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R303Q	ENST00000380370.1	37	c.908	CCDS31370.1	11	.	.	.	.	.	.	.	.	.	.	G	7.402	0.632906	0.14322	.	.	ENSG00000205495	ENST00000380370	T	0.37752	1.18	4.19	-2.76	0.05896	.	1.063770	0.07513	N	0.909200	T	0.34978	0.0916	M	0.76433	2.335	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.28038	-1.0056	10	0.35671	T	0.21	.	7.3678	0.26783	0.4629:0.1136:0.4235:0.0	.	303	Q8NH60	O52J3_HUMAN	Q	303	ENSP00000369728:R303Q	ENSP00000369728:R303Q	R	+	2	0	OR52J3	5025239	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.686000	0.05161	-1.334000	0.02244	-1.731000	0.00696	CGA	0	NULL		0.383	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52J3	protein_coding	OTTHUMT00000142807.1	60	200	0	0.00	0	0	G	NM_001001916	0	0		5068663	1	no_errors	ENST00000380370	ensembl	human	known	74_37	missense	27	200	30.77	19.92	12	50	SNP	0	A	A	5068663	G	A	5068663	3	1	97	1	0	0	0	0	1	0	0	0	11122	1058	37	2	910	2	OR52J3	11	5068663	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	394446	5068663	129937853	406	1605											
OR52A5	390054	genome.wustl.edu	37	chr11	5153619	5153619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaaatgaaaccagaagatgCctaacattttgggaagaatg	17	8	10	6	0	0	4	0	1	0	3	0	5	0	5	2	1	3	1	2	1	6	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:5153619C>T	ENST00000307388.1	-	1	253	c.254G>A	c.(253-255)gGc>gAc	p.G85D		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	85					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)		CCAGAAGATGCCTAACATTTT	0.403																																							0											0													65	61	63					11																	5153619		2201	4298	6499	SO:0001583	missense	0			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.254G>A	11.37:g.5153619C>T	ENSP00000303469:p.Gly85Asp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G85D	ENST00000307388.1	37	c.254	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884184	0.33255	.	.	ENSG00000171944	ENST00000307388	T	0.00382	7.61	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000208	T	0.00300	0.0009	L	0.46819	1.47	0.09310	N	1	P	0.40553	0.721	B	0.40134	0.32	T	0.48843	-0.8999	10	0.72032	D	0.01	.	6.6224	0.22810	0.2625:0.6523:0.0:0.0852	.	85	Q9H2C5	O52A5_HUMAN	D	85	ENSP00000303469:G85D	ENSP00000303469:G85D	G	-	2	0	OR52A5	5110195	0.000000	0.05858	1.000000	0.80357	0.878000	0.50629	-1.819000	0.01716	1.426000	0.47256	0.655000	0.94253	GGC	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.403	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	protein_coding	OTTHUMT00000142823.1	59	182	0	0.00	0	0	C	NM_001005160	0	0		5153619	-1	no_errors	ENST00000307388	ensembl	human	known	74_37	missense	42	161	20.75	31.20	11	73	SNP	0	T	T	5153619	C	T	5153619	3	4	97	1	0	0	0	0	1	0	0	0	11110	739	26	3	699	3	OR52A5	11	5153619	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	84956	5153619	129852897	407	1606											
OR51V1	283111	genome.wustl.edu	37	chr11	5221246	5221246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggactgacttaagaatcaGgatgtaggagaaaaggatga	17	7	13	4	0	1	4	1	2	0	2	1	8	1	7	0	4	0	1	0	4	5	2	rs548436244		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:5221246G>T	ENST00000321255.1	-	1	684	c.685C>A	c.(685-687)Ctg>Atg	p.L229M		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	229					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)		TTAAGAATCAGGATGTAGGAG	0.433																																							0											0													82	79	80					11																	5221246		2201	4298	6499	SO:0001583	missense	0			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.685C>A	11.37:g.5221246G>T	ENSP00000321729:p.Leu229Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L229M	ENST00000321255.1	37	c.685	CCDS31375.1	11	.	.	.	.	.	.	.	.	.	.	G	4.982	0.182345	0.09495	.	.	ENSG00000176742	ENST00000321255	T	0.41400	1.0	5.27	-9.88	0.00467	GPCR, rhodopsin-like superfamily (1);	0.540032	0.15287	N	0.270364	T	0.27098	0.0664	L	0.45352	1.415	0.09310	N	1	B	0.32382	0.368	B	0.35278	0.199	T	0.16100	-1.0414	10	0.59425	D	0.04	.	8.3599	0.32353	0.1212:0.075:0.1129:0.6909	.	229	Q9H2C8	O51V1_HUMAN	M	229	ENSP00000321729:L229M	ENSP00000321729:L229M	L	-	1	2	OR51V1	5177822	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.340000	0.02650	-2.302000	0.00657	-0.182000	0.12963	CTG	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	protein_coding	OTTHUMT00000142965.1	47	146	0	0.00	0	0	G	NM_001004760	0	0		5221246	-1	no_errors	ENST00000321255	ensembl	human	known	74_37	missense	32	128	15.79	21.95	6	36	SNP	0	T	T	5221246	G	T	5221246	3	4	97	1	0	0	0	0	1	0	0	0	11107	991	35	5	283	5	OR51V1	11	5221246	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	67627	5221246	129785270	408	1607											
DNHD1	144132	genome.wustl.edu	37	chr11	6578413	6578413	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccgggtgtcaggcctgCgaggcacttgtctgaccgtt	4	10	15	12	4	2	1	1	1	1	0	2	2	2	1	3	3	2	2	3	3	0	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:6578413C>T	ENST00000527990.2	+	23	7888	c.7888C>T	c.(7888-7890)Cga>Tga	p.R2630*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.R2630*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2630					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)		GTCAGGCCTGCGAGGCACTTG	0.597																																							0											0													71	62	65					11																	6578413		692	1591	2283	SO:0001587	stop_gained	0			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.7888C>T	11.37:g.6578413C>T	ENSP00000436180:p.Arg2630*		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.R2630*	ENST00000527990.2	37	c.7888	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	47	13.163603	0.99724	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	.	.	.	5.28	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.084	0.48076	0.0:0.8477:0.0:0.1523	.	.	.	.	X	2630;2630;377	.	ENSP00000254579:R2630X	R	+	1	2	DNHD1	6534989	0.006000	0.16342	0.029000	0.17559	0.331000	0.28603	1.918000	0.40006	0.819000	0.34492	0.650000	0.86243	CGA	0	NULL		0.597	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	27	132	3.57	0.75	1	1	C	NM_144666	0	0		6578413	1	no_errors	ENST00000254579	ensembl	human	known	74_37	nonsense	16	104	23.81	27.27	5	39	SNP	0.009	T	T	6578413	C	T	6578413	4	4	97	1	0	0	0	0	0	1	0	0	4668	760	27	1	7987	1	DNHD1	11	6578413	Nonsense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1357167	6578413	128428103	409	1608											
DCHS1	8642	genome.wustl.edu	37	chr11	6654735	6654735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgtagttgctcaaatatgGgtggtgtgggggttccaggc	7	12	16	6	0	1	0	1	0	0	0	2	0	2	0	1	5	1	4	1	5	3	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:6654735G>T	ENST00000299441.3	-	5	2774	c.2363C>A	c.(2362-2364)cCc>cAc	p.P788H	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	788	Cadherin 7. {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)		CTCAAATATGGGTGGTGTGGG	0.567																																							0											0													55	45	48					11																	6654735		2201	4294	6495	SO:0001583	missense	0			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.2363C>A	11.37:g.6654735G>T	ENSP00000299441:p.Pro788His		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P788H	ENST00000299441.3	37	c.2363	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123199	0.77436	.	.	ENSG00000166341	ENST00000299441	D	0.81579	-1.51	4.84	4.84	0.62591	Cadherin (4);Cadherin-like (1);	0.000000	0.45126	D	0.000393	D	0.93252	0.7850	H	0.97265	3.97	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.95181	0.8299	10	0.87932	D	0	.	15.611	0.76716	0.0:0.0:1.0:0.0	.	788	Q96JQ0	PCD16_HUMAN	H	788	ENSP00000299441:P788H	ENSP00000299441:P788H	P	-	2	0	DCHS1	6611311	1.000000	0.71417	0.963000	0.40424	0.955000	0.61496	8.713000	0.91408	2.676000	0.91093	0.561000	0.74099	CCC	0	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	32	138	0	0.00	0	0	G	NM_003737	0	0		6654735	-1	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	18	115	30.77	21.77	8	32	SNP	0.999	T	T	6654735	G	T	6654735	3	4	97	1	0	0	0	0	1	0	0	0	4287	1232	43	5	7601	5	DCHS1	11	6654735	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	76322	6654735	128351781	410	1609											
CTR9	9646	genome.wustl.edu	37	chr11	10789707	10789707	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtatgctgccaatggcatAggtgattataagacttgagt	11	13	11	6	0	0	3	0	2	0	1	0	3	0	3	1	2	2	3	1	2	5	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:10789707A>G	ENST00000361367.2	+	15	2385	c.1959A>G	c.(1957-1959)atA>atG	p.I653M		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	653					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)		CCAATGGCATAGGTGATTATA	0.343																																							0											0													74	79	77					11																	10789707		2201	4294	6495	SO:0001630	splice_region_variant	0			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.1960+1A>G	11.37:g.10789707A>G			D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I653M	ENST00000361367.2	37	c.1959	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559102	0.45590	.	.	ENSG00000198730	ENST00000361367	T	0.74315	-0.83	5.72	1.78	0.24846	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.042244	0.85682	D	0.000000	T	0.80914	0.4715	M	0.87682	2.9	0.80722	D	1	P	0.40578	0.722	P	0.51101	0.659	T	0.78360	-0.2234	10	0.56958	D	0.05	-15.468	6.5803	0.22589	0.4898:0.2588:0.0:0.2514	.	653	Q6PD62	CTR9_HUMAN	M	653	ENSP00000355013:I653M	ENSP00000355013:I653M	I	+	3	3	CTR9	10746283	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.040000	0.30278	0.393000	0.25203	0.482000	0.46254	ATA	0	pfscan_TPR-contain_dom		0.343	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	protein_coding	OTTHUMT00000386215.1	53	250	0	0.00	0	0	A	NM_014633	0	0	Missense_Mutation	10789707	1	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	27	223	27.03	32.83	10	109	SNP	0.997	G	G	10789707	A	G	10789707	5	3	97	1	0	0	0	0	0	0	1	0	4024	434	15	4	2017	4	CTR9	11	10789707	Splice_Site	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	4134972	10789707	124216809	411	1610											
KCNC1	3746	genome.wustl.edu	37	chr11	17757798	17757798	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgcccagccgacgtgtgCgggccgctctacgaggagga	7	5	15	14	5	1	0	0	0	1	0	1	4	1	2	3	3	4	1	3	3	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:17757798C>T	ENST00000379472.3	+	1	279	c.249C>T	c.(247-249)tgC>tgT	p.C83C	KCNC1_ENST00000265969.6_Silent_p.C83C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	83					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)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CCGACGTGTGCGGGCCGCTCT	0.677																																							0											0													43	43	43					11																	17757798		2200	4292	6492	SO:0001819	synonymous_variant	0			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.249C>T	11.37:g.17757798C>T			K4DI87	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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.C83	ENST00000379472.3	37	c.249	CCDS7827.1	11																																																																																			0	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3		0.677	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	protein_coding	OTTHUMT00000389389.1	81	10	0	0.00	0	0	C	NM_004976	0	0		17757798	1	no_errors	ENST00000265969	ensembl	human	known	74_37	silent	42	17	28.81	34.62	17	9	SNP	1	T	T	17757798	C	T	17757798	2	4	97	1	0	0	0	0	0	0	0	1	8014	776	27	1		1	KCNC1	11	17757798	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	6968091	17757798	117248718	412	1611											
MRGPRX3	117195	genome.wustl.edu	37	chr11	18158926	18158926	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccgcatgcgcaggaaCgctgtctccatctacatcct	7	9	10	15	3	2	0	0	0	2	0	4	1	3	1	3	2	4	4	3	2	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:18158926C>T	ENST00000396275.2	+	3	538	c.177C>T	c.(175-177)aaC>aaT	p.N59N		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	59						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						TGCGCAGGAACGCTGTCTCCA	0.587																																							0											0													118	111	114					11																	18158926		2200	4293	6493	SO:0001819	synonymous_variant	0				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.177C>T	11.37:g.18158926C>T			B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.N59	ENST00000396275.2	37	c.177	CCDS7830.1	11																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.587	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	protein_coding	OTTHUMT00000389767.1	29	46	0	0.00	0	0	C	NM_054031	0	0		18158926	1	no_errors	ENST00000396275	ensembl	human	known	74_37	silent	17	44	26.09	38.03	6	27	SNP	0.304	T	T	18158926	C	T	18158926	2	4	97	1	0	0	0	0	0	0	0	1	9768	535	19	1		1	MRGPRX3	11	18158926	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	401128	18158926	116847590	413	1612											
MRGPRX3	117195	genome.wustl.edu	37	chr11	18159303	18159303	+	Frame_Shift_Del	DEL	T	T	-																															cattacaatcgcgtggctggTttttttatgtgtggttctct																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:18159303delT	ENST00000396275.2	+	3	915	c.554delT	c.(553-555)gttfs	p.V185fs		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	185						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						GCGTGGCTGGTTTTTTTATGT	0.507																																							0											0													151	139	143					11																	18159303		2200	4293	6493	SO:0001589	frameshift_variant	0				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.554delT	11.37:g.18159303delT	ENSP00000379571:p.Val185fs		B0M0L1|Q8TDE0|Q8TDE1	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L187fs	ENST00000396275.2	37	c.554	CCDS7830.1	11																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	protein_coding	OTTHUMT00000389767.1	86	96	0	0.00	0	0	T	NM_054031	0	0		18159303	1	no_errors	ENST00000396275	ensembl	human	known	74_37	frame_shift_del	45	69	27.42	30.30	17	30	DEL	0.006	0	-	18159303	T	-	18159303	7	5	97	1	0	1	0	1	0	0	0	0	9768	1725	60	0	556	0	MRGPRX3	11	18159303	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	377	18159303	116847213	414	1613											
SPTY2D1	144108	genome.wustl.edu	37	chr11	18636367	18636367	+	Frame_Shift_Del	DEL	G	G	-																															ggccactgacagaccgccccGgggggcccaagccactcact																								rs370983685		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:18636367delG	ENST00000336349.5	-	3	1689	c.1454delC	c.(1453-1455)ccgfs	p.P485fs	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	485	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						AGACCGCCCCGGGGGGCCCAA	0.597																																							0											0													26	29	28					11																	18636367		2198	4292	6490	SO:0001589	frameshift_variant	0			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.1454delC	11.37:g.18636367delG	ENSP00000337991:p.Pro485fs		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Frame_Shift_Del	DEL	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.P485fs	ENST00000336349.5	37	c.1454	CCDS31441.1	11																																																																																			0	NULL		0.597	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	protein_coding	OTTHUMT00000395941.1	62	101	0	0.00	0	0	G	NM_194285	0	0		18636367	-1	no_errors	ENST00000336349	ensembl	human	known	74_37	frame_shift_del	35	70	27.08	21.35	13	19	DEL	0	0	-	18636367	G	-	18636367	7	5	97	1	0	1	0	1	0	0	0	0	15125	1116	39	0	619	0	SPTY2D1	11	18636367	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	477064	18636367	116370149	415	1614											
ANO5	203859	genome.wustl.edu	37	chr11	22301099	22301099	+	Frame_Shift_Del	DEL	T	T	-																															atttcctctagcatgttgtgTttttagttaaatttttgctg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:22301099delT	ENST00000324559.8	+	22	2847	c.2530delT	c.(2530-2532)tttfs	p.F844fs		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	844					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						GCATGTTGTGTTTTTAGTTAA	0.348																																							0											0													104	103	104					11																	22301099		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2530delT	11.37:g.22301099delT	ENSP00000315371:p.Phe844fs			Frame_Shift_Del	DEL	pfam_Anoctamin	p.L845fs	ENST00000324559.8	37	c.2530	CCDS31444.1	11																																																																																			0	pfam_Anoctamin		0.348	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	protein_coding	OTTHUMT00000387615.1	38	276	0	0.00	0	0	T	NM_213599	0	0		22301099	1	no_errors	ENST00000324559	ensembl	human	known	74_37	frame_shift_del	27	215	40	33.23	18	107	DEL	0.998	0	-	22301099	T	-	22301099	7	5	97	1	0	1	0	1	0	0	0	0	700	1725	60	0	2616	0	ANO5	11	22301099	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	3664732	22301099	112705417	416	1615											
SLC1A2	6506	genome.wustl.edu	37	chr11	35333816	35333816	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggaaggcatccaggcTggacacttcatcattcttct	9	11	9	12	0	4	0	2	0	2	0	6	2	6	2	2	4	0	2	2	4	1	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:35333816T>C	ENST00000278379.3	-	4	772	c.490A>G	c.(490-492)Agc>Ggc	p.S164G	SLC1A2_ENST00000606205.1_Missense_Mutation_p.S164G|SLC1A2_ENST00000395753.1_Missense_Mutation_p.S155G|SLC1A2_ENST00000395750.1_Missense_Mutation_p.S155G	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	164					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			GCATCCAGGCTGGACACTTCA	0.507																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)		0											0													220	204	210					11																	35333816		2202	4298	6500	SO:0001583	missense	0			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.490A>G	11.37:g.35333816T>C	ENSP00000278379:p.Ser164Gly		B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.S164G	ENST00000278379.3	37	c.490	CCDS31459.1	11	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693560	0.88735	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	L	0.39147	1.195	0.80722	D	1	P;P	0.51147	0.942;0.891	P;P	0.54706	0.759;0.758	T	0.66791	-0.5834	10	0.72032	D	0.01	-23.1796	15.8865	0.79255	0.0:0.0:0.0:1.0	.	164;164	B4DQE9;P43004	.;EAA2_HUMAN	G	164;155;155;160	ENSP00000278379:S164G;ENSP00000379099:S155G;ENSP00000379102:S155G;ENSP00000406133:S160G	ENSP00000278379:S164G	S	-	1	0	SLC1A2	35290392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.003000	0.88520	2.165000	0.68154	0.379000	0.24179	AGC	0	pfam_Na-dicarboxylate_symporter		0.507	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	SLC1A2	protein_coding	OTTHUMT00000258181.1	52	162	0	0.00	0	0	T	NM_004171	0	0		35333816	-1	no_errors	ENST00000278379	ensembl	human	known	74_37	missense	32	141	17.95	32.38	7	68	SNP	1	C	C	35333816	T	C	35333816	3	2	97	1	0	0	0	0	1	0	0	0	14432	1580	55	4	1266	4	SLC1A2	11	35333816	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	13032717	35333816	99672700	417	1616											
OR8J3	81168	genome.wustl.edu	37	chr11	55904926	55904926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcatagaatgaggtagttTtcttctttactaaaaagttc	13	17	6	5	0	3	2	1	1	2	1	4	2	3	2	0	1	1	3	0	1	7	10			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:55904926T>C	ENST00000301529.1	-	1	268	c.269A>G	c.(268-270)aAa>aGa	p.K90R		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, 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)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGAGGTAGTTTTCTTCTTTAC	0.418																																							0											0													137	134	135					11																	55904926		2201	4296	6497	SO:0001583	missense	0				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.269A>G	11.37:g.55904926T>C	ENSP00000301529:p.Lys90Arg		Q6IFB6|Q96RC2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K90R	ENST00000301529.1	37	c.269	CCDS31520.1	11	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086338	0.36855	.	.	ENSG00000167822	ENST00000301529	T	0.37584	1.19	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.262350	0.33515	N	0.004823	T	0.30103	0.0754	L	0.28400	0.85	0.09310	N	1	P	0.47762	0.9	P	0.49451	0.611	T	0.07751	-1.0756	10	0.54805	T	0.06	.	4.8218	0.13394	0.0:0.1096:0.1913:0.6991	.	90	Q8NGG0	OR8J3_HUMAN	R	90	ENSP00000301529:K90R	ENSP00000301529:K90R	K	-	2	0	OR8J3	55661502	0.000000	0.05858	0.027000	0.17364	0.652000	0.38707	0.487000	0.22356	1.268000	0.44264	0.240000	0.17902	AAA	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J3	protein_coding	OTTHUMT00000391542.1	52	62	0	0.00	0	0	T	NM_001004064	0	0		55904926	-1	no_errors	ENST00000301529	ensembl	human	known	74_37	missense	26	50	33.33	30.56	13	22	SNP	0.054	C	C	55904926	T	C	55904926	3	2	97	1	0	0	0	0	1	0	0	0	11242	1841	64	3	680	3	OR8J3	11	55904926	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	20571110	55904926	79101590	418	1617											
BEST1	7439	genome.wustl.edu	37	chr11	61730428	61730429	+	Intron	DEL	CT	CT	-																															ccccaccccagcttcccttgCtctgagcctacccttcctcc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	CT	CT	CT	-	CT	CT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:61730428_61730429delCT	ENST00000378043.4	+	10	2382				BEST1_ENST00000378042.3_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_Frame_Shift_Del_p.A541fs|BEST1_ENST00000301774.9_Frame_Shift_Del_p.A229fs	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GCTTCCCTTGCTCTGAGCCTAC	0.559																																							0											0																																										SO:0001627	intron_variant	0			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	12703	protein-coding gene	gene with protein product	"Best disease"	607854	"vitelliform macular dystrophy 2"	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1739+63CT>-	11.37:g.61730430_61730431delCT			A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Frame_Shift_Del	DEL	pfam_Bestrophin/UPF0187	p.L542fs	ENST00000378043.4	37	c.1622_1623	CCDS31580.1	11																																																																																			0	NULL		0.559	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	protein_coding	OTTHUMT00000394715.1	46	154	0	0.00	0	0	CT	NM_004183	0	0		61730429	1	no_errors	ENST00000449131	ensembl	human	known	74_37	frame_shift_del	18	152	35.71	23.23	10	46	DEL	0.001:0.000	0	-	61730429	CT	-	61730428	6	5	97	0	1	1	0	1	0	0	0	0	1404	797	28	0		0	BEST1	11	61730428	Intron	DEL	CT	TCGA-ZB-A966-01A-11D-A428-09	5825502	61730428	73276088	419	1618											
INTS5	80789	genome.wustl.edu	37	chr11	62417152	62417152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcctttgggttggcccGgataaactcagacagcacct	9	8	11	13	1	1	1	1	0	0	1	1	2	1	2	4	4	2	2	4	4	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:62417152G>A	ENST00000330574.2	-	2	452	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	134					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						GGGTTGGCCCGGATAAACTCA	0.587																																							0											0													123	124	124					11																	62417152		2202	4299	6501	SO:0001583	missense	0			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.400C>T	11.37:g.62417152G>A	ENSP00000327889:p.Arg134Trp		Q8N6W5|Q9C0G5	Missense_Mutation	SNP	NULL	p.R134W	ENST00000330574.2	37	c.400	CCDS8027.1	11	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529689	0.44969	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.74	4.74	0.60224	.	0.146930	0.44097	D	0.000490	T	0.28566	0.0707	L	0.36672	1.1	0.32784	N	0.502025	P	0.45594	0.862	B	0.34180	0.177	T	0.51293	-0.8724	9	0.72032	D	0.01	.	10.3276	0.43803	0.0:0.0:0.8039:0.1961	.	134	Q6P9B9	INT5_HUMAN	W	134	.	ENSP00000327889:R134W	R	-	1	2	INTS5	62173728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.588000	0.46137	2.463000	0.83235	0.650000	0.86243	CGG	0	NULL		0.587	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	protein_coding	OTTHUMT00000395327.1	24	150	0	0.00	0	0	G	NM_030628	0	0		62417152	-1	no_errors	ENST00000330574	ensembl	human	known	74_37	missense	15	112	21.05	26.32	4	40	SNP	1	A	A	62417152	G	A	62417152	3	1	97	1	0	0	0	0	1	0	0	0	7781	1115	39	2	2663	2	INTS5	11	62417152	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	686724	62417152	72589364	420	1619											
NXF1	10482	genome.wustl.edu	37	chr11	62563546	62563546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagcttactgtctgggCgcttatgtctaccacgaagg	8	10	13	10	2	2	0	0	0	2	0	2	2	2	1	1	3	3	3	1	3	4	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:62563546C>T	ENST00000532297.1	-	17	2082	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.A485T|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	485	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				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						ACTGTCTGGGCGCTTATGTCT	0.552																																							0											0													90	84	86					11																	62563546		2201	4299	6500	SO:0001583	missense	0			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.1453G>A	11.37:g.62563546C>T	ENSP00000436679:p.Ala485Thr		B4E269|Q99799|Q9UQL2	Missense_Mutation	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.A485T	ENST00000532297.1	37	c.1453	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554607	0.27739	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.64260	-0.09;-0.09;-0.09	5.95	5.05	0.67936	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.051060	0.85682	D	0.000000	T	0.40719	0.1128	N	0.20401	0.57	0.80722	D	1	B;P	0.40302	0.279;0.712	B;B	0.29353	0.101;0.074	T	0.32508	-0.9904	10	0.23302	T	0.38	-21.0269	12.9227	0.58241	0.0:0.9219:0.0:0.0781	.	528;485	E9PIN3;Q9UBU9	.;NXF1_HUMAN	T	485;485;528	ENSP00000294172:A485T;ENSP00000436679:A485T;ENSP00000435742:A528T	ENSP00000294172:A485T	A	-	1	0	NXF1	62320122	1.000000	0.71417	0.996000	0.52242	0.376000	0.30014	5.333000	0.65917	1.535000	0.49220	-0.136000	0.14681	GCC	0	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.552	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	protein_coding	OTTHUMT00000395365.2	51	144	0	0.00	0	0	C	NM_006362	0	0		62563546	-1	no_errors	ENST00000294172	ensembl	human	known	74_37	missense	29	122	23.68	27.22	9	46	SNP	1	T	T	62563546	C	T	62563546	3	4	97	1	0	0	0	0	1	0	0	0	10782	768	27	1	430	1	NXF1	11	62563546	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	146394	62563546	72442970	421	1620											
RCOR2	283248	genome.wustl.edu	37	chr11	63682649	63682649	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggctgtgccccactcaCgcttggcatctgacacacag	8	7	10	16	1	2	1	1	1	1	0	2	1	2	1	3	2	1	3	3	2	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:63682649C>T	ENST00000301459.4	-	3	653		c.e3+1		RCOR2_ENST00000473926.2_5'Flank	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						GCCCCACTCACGCTTGGCATC	0.617																																							0											0													36	26	29					11																	63682649		2085	4079	6164	SO:0001630	splice_region_variant	0			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	ENST00000301459.4:c.265+1G>A	11.37:g.63682649C>T			Q96FP3	Splice_Site	SNP	0	e3+1	ENST00000301459.4	37	c.265+1	CCDS8052.1	11	.	.	.	.	.	.	.	.	.	.	c	17.31	3.356718	0.61293	.	.	ENSG00000167771	ENST00000301459	.	.	.	4.53	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2573	0.54631	0.0:0.8278:0.1722:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RCOR2	63439225	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.791000	0.69045	1.037000	0.40024	-0.358000	0.07595	.	0	0		0.617	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCOR2	protein_coding	OTTHUMT00000318233.1	9	85	0	0.00	0	0	C	NM_173587	0	0	Intron	63682649	-1	no_errors	ENST00000301459	ensembl	human	known	74_37	splice_site	5	70	50	31.37	5	32	SNP	1	T	T	63682649	C	T	63682649	5	4	97	1	0	0	0	0	0	0	1	0	13183	550	19	1	1345	1	RCOR2	11	63682649	Splice_Site	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1119103	63682649	71323867	422	1621											
CDC42BPG	55561	genome.wustl.edu	37	chr11	64601226	64601226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacccccatgcgcaggctgCgtcggccctccggcctcaga	5	6	11	19	4	2	1	2	0	0	1	4	1	3	1	5	3	2	2	5	3	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:64601226C>T	ENST00000342711.5	-	22	2548	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCGCAGGCTGCGTCGGCCCTC	0.682																																							0											0													38	42	40					11																	64601226		2201	4297	6498	SO:0001583	missense	0			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.2549G>A	11.37:g.64601226C>T	ENSP00000345133:p.Arg850His			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.R850H	ENST00000342711.5	37	c.2549	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552209	0.65311	.	.	ENSG00000171219	ENST00000342711	T	0.68479	-0.33	5.18	5.18	0.71444	.	0.000000	0.43260	D	0.000583	T	0.57814	0.2079	N	0.08118	0	0.35762	D	0.820246	D	0.67145	0.996	P	0.52710	0.707	T	0.69960	-0.5003	10	0.52906	T	0.07	.	14.5737	0.68229	0.0:1.0:0.0:0.0	.	850	Q6DT37	MRCKG_HUMAN	H	850	ENSP00000345133:R850H	ENSP00000345133:R850H	R	-	2	0	CDC42BPG	64357802	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	2.000000	0.40816	2.595000	0.87683	0.561000	0.74099	CGC	0	NULL		0.682	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	protein_coding	OTTHUMT00000105352.4	45	86	0	0.00	0	0	C	XM_290516	0	0		64601226	-1	no_errors	ENST00000342711	ensembl	human	known	74_37	missense	20	74	31.03	23.71	9	23	SNP	1	T	T	64601226	C	T	64601226	3	4	97	1	0	0	0	0	1	0	0	0	3074	768	27	1	2170	1	CDC42BPG	11	64601226	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	918577	64601226	70405290	423	1622											
MUS81	80198	genome.wustl.edu	37	chr11	65633355	65633355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaccattaagtgtgggCgtctacagaggtgagggcaa	11	8	15	7	1	1	3	0	2	1	1	1	3	1	3	1	3	2	2	1	3	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:65633355C>T	ENST00000308110.4	+	15	1928	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C	MUS81_ENST00000525006.1_3'UTR|EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.R452C	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	527					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)		TAAGTGTGGGCGTCTACAGAG	0.627								Homologous recombination																															0											0													91	93	93					11																	65633355		2201	4296	6497	SO:0001583	missense	0				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.1579C>T	11.37:g.65633355C>T	ENSP00000307853:p.Arg527Cys		Q9H7D9	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA_pol_b-like_N,smart_ERCC4_domain	p.R527C	ENST00000308110.4	37	c.1579	CCDS8115.1	11	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283335	0.59867	.	.	ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855;ENST00000529742	T;T;T	0.48201	2.44;2.66;0.82	5.23	5.23	0.72850	.	0.394874	0.26058	N	0.026600	T	0.46502	0.1396	L	0.50333	1.59	0.47407	D	0.99941	D	0.63880	0.993	P	0.46208	0.507	T	0.49360	-0.8948	10	0.59425	D	0.04	-0.9938	11.3943	0.49832	0.1809:0.8191:0.0:0.0	.	527	Q96NY9	MUS81_HUMAN	C	452;527;527;60	ENSP00000432287:R452C;ENSP00000307853:R527C;ENSP00000435277:R60C	ENSP00000307853:R527C	R	+	1	0	MUS81	65389931	0.115000	0.22152	0.642000	0.29436	0.886000	0.51366	2.606000	0.46291	2.451000	0.82905	0.561000	0.74099	CGT	0	NULL		0.627	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUS81	protein_coding	OTTHUMT00000390941.3	59	126	0	0.00	0	0	C	NM_025128	0	0		65633355	1	no_errors	ENST00000308110	ensembl	human	known	74_37	missense	23	85	28.12	24.78	9	28	SNP	0.867	T	T	65633355	C	T	65633355	3	4	97	1	0	0	0	0	1	0	0	0	9988	768	27	1	1637	1	MUS81	11	65633355	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1032129	65633355	69373161	424	1623											
RIN1	9610	genome.wustl.edu	37	chr11	66103856	66103856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagagcccgcgcctgaCtctccagggctttccatggc	6	7	12	16	2	1	2	0	1	1	1	3	3	2	2	5	3	1	1	5	3	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:66103856C>T	ENST00000311320.4	-	1	144	c.18G>A	c.(16-18)gaG>gaA	p.E6E	RIN1_ENST00000530056.1_Intron|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_5'UTR	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	6					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						CCGCGCCTGACTCTCCAGGGC	0.612																																							0											0													18	21	20					11																	66103856		2199	4295	6494	SO:0001819	synonymous_variant	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.18G>A	11.37:g.66103856C>T			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.E6	ENST00000311320.4	37	c.18	CCDS31614.1	11																																																																																			0	NULL		0.612	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	protein_coding	OTTHUMT00000392980.2	59	60	0	0.00	0	0	C	NM_004292	0	0		66103856	-1	no_errors	ENST00000311320	ensembl	human	known	74_37	silent	32	44	28.89	18.52	13	10	SNP	0.664	T	T	66103856	C	T	66103856	2	4	97	1	0	0	0	0	0	0	0	1	13371	564	20	3		3	RIN1	11	66103856	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	470501	66103856	68902660	425	1624											
SUV420H1	51111	genome.wustl.edu	37	chr11	67925890	67925890	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacccatcaaatctggtacCgcgtcgtcttttccaggaga	9	10	10	12	3	3	1	1	0	2	1	5	3	4	2	3	3	1	1	3	3	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:67925890C>T	ENST00000304363.4	-	11	2276	c.1923G>A	c.(1921-1923)gcG>gcA	p.A641A		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	641					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AATCTGGTACCGCGTCGTCTT	0.507																																							0											0													82	74	76					11																	67925890		2200	4294	6494	SO:0001819	synonymous_variant	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1923G>A	11.37:g.67925890C>T			B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.A641	ENST00000304363.4	37	c.1923	CCDS31623.1	11																																																																																			0	NULL		0.507	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	protein_coding	OTTHUMT00000318319.1	15	263	0	0.00	0	0	C	NM_017635	0	0		67925890	-1	no_errors	ENST00000304363	ensembl	human	known	74_37	silent	11	172	31.25	28.93	5	70	SNP	0	T	T	67925890	C	T	67925890	2	4	97	1	0	0	0	0	0	0	0	1	15411	639	23	2		2	SUV420H1	11	67925890	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1822034	67925890	67080626	426	1625											
MRGPRF	116535	genome.wustl.edu	37	chr11	68773305	68773305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacaccacggccgacaggCgcttgggccgccggcgccag	6	2	15	18	7	0	0	0	0	0	0	0	1	0	0	5	4	0	2	5	4	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:68773305C>T	ENST00000309099.6	-	3	855	c.473G>A	c.(472-474)cGc>cAc	p.R158H	RP11-554A11.5_ENST00000562506.1_RNA|MRGPRF_ENST00000441623.1_Missense_Mutation_p.R158H	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	158						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)			GGCCGACAGGCGCTTGGGCCG	0.716																																							0											0													7	10	9					11																	68773305		2101	4119	6220	SO:0001583	missense	0			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.473G>A	11.37:g.68773305C>T	ENSP00000309782:p.Arg158His		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R158H	ENST00000309099.6	37	c.473	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	C	3.472	-0.107742	0.06924	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.42513	0.97;0.97	4.86	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.152154	0.31177	N	0.008107	T	0.12347	0.0300	N	0.02368	-0.58	0.27807	N	0.942268	B	0.13594	0.008	B	0.10450	0.005	T	0.32798	-0.9893	10	0.02654	T	1	-37.8465	5.0704	0.14604	0.0:0.5543:0.0:0.4457	.	158	Q96AM1	MRGRF_HUMAN	H	158;158;130	ENSP00000403660:R158H;ENSP00000309782:R158H	ENSP00000309782:R158H	R	-	2	0	MRGPRF	68529881	0.001000	0.12720	1.000000	0.80357	0.988000	0.76386	-0.570000	0.05895	0.482000	0.27582	0.561000	0.74099	CGC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.716	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	protein_coding	OTTHUMT00000396875.1	34	47	0	0.00	0	0	C	NM_145015	0	0		68773305	-1	no_errors	ENST00000309099	ensembl	human	known	74_37	missense	31	24	24.39	38.46	10	15	SNP	0.99	T	T	68773305	C	T	68773305	3	4	97	1	0	0	0	0	1	0	0	0	9765	768	27	1	562	1	MRGPRF	11	68773305	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	847415	68773305	66233211	427	1626											
FGF3	2248	genome.wustl.edu	37	chr11	69625447	69625447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggatccgctccacaaactCgcactcggcgctgtagtgct	7	9	11	14	4	0	0	0	0	0	0	4	1	2	1	2	2	2	5	2	2	2	1	rs79472069		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:69625447C>T	ENST00000334134.2	-	3	436	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	116					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)			TCCACAAACTCGCACTCGGCG	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		17189	0		0	False		,,,				2504	0						0.9998,0.0001997											0													38	43	41					11																	69625447		2197	4282	6479	SO:0001583	missense	0				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.346G>A	11.37:g.69625447C>T	ENSP00000334122:p.Glu116Lys		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.E116K	ENST00000334134.2	37	c.346	CCDS8195.1	11	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.17	2.754654	0.49362	.	.	ENSG00000186895	ENST00000334134	T	0.65364	-0.15	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	N	0.10809	0.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63510	-0.6621	9	.	.	.	.	15.9315	0.79663	0.0:1.0:0.0:0.0	.	116	P11487	FGF3_HUMAN	K	116	ENSP00000334122:E116K	.	E	-	1	0	FGF3	69334628	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.111000	0.77077	1.714000	0.51371	0.462000	0.41574	GAG	0	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam		0.657	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	protein_coding	OTTHUMT00000396835.1	51	106	0	0.00	0	0	C	NM_005247	rs79472069	C->T		69625447	-1	no_errors	ENST00000334134	ensembl	human	known	74_37	missense	32	77	25.58	30.00	11	33	SNP	1	T	T	69625447	C	T	69625447	3	4	97	1	0	0	0	0	1	0	0	0	5853	893	31	2	377	2	FGF3	11	69625447	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	852142	69625447	65381069	428	1627											
ANO1	55107	genome.wustl.edu	37	chr11	70007369	70007369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtgcggtccaacatcCgggtcacagtcacagccacc	8	6	9	18	3	2	0	2	0	0	0	5	0	5	0	6	2	3	0	6	2	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:70007369C>T	ENST00000355303.5	+	17	1986	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	ANO1_ENST00000538023.1_Missense_Mutation_p.R561W|ANO1_ENST00000398543.2_Missense_Mutation_p.R415W|ANO1_ENST00000530676.1_Missense_Mutation_p.R415W|ANO1_ENST00000316296.5_Missense_Mutation_p.R503W|ANO1_ENST00000531349.1_Missense_Mutation_p.R270W	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	561					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GTCCAACATCCGGGTCACAGT	0.587																																							0											0													95	99	98					11																	70007369		2172	4258	6430	SO:0001583	missense	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1681C>T	11.37:g.70007369C>T	ENSP00000347454:p.Arg561Trp		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.R561W	ENST00000355303.5	37	c.1681	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883076	0.72410	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.29	2.05	0.26809	.	0.150776	0.44688	D	0.000436	T	0.78641	0.4315	M	0.83953	2.67	0.49299	D	0.999771	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.967;0.989;0.987	T	0.82305	-0.0523	9	.	.	.	.	14.7155	0.69265	0.4432:0.5568:0.0:0.0	.	270;503;561	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	W	561;561;415;319;503;415;270;112	ENSP00000347454:R561W;ENSP00000444689:R561W;ENSP00000381551:R415W;ENSP00000319477:R503W;ENSP00000435797:R415W;ENSP00000432843:R270W;ENSP00000435868:R112W	.	R	+	1	2	ANO1	69685017	0.988000	0.35896	1.000000	0.80357	0.962000	0.63368	1.753000	0.38359	1.207000	0.43291	-0.169000	0.13324	CGG	0	pfam_Anoctamin		0.587	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	protein_coding	OTTHUMT00000393685.1	27	131	0	0.00	0	0	C	NM_018043	0	0		70007369	1	no_errors	ENST00000355303	ensembl	human	known	74_37	missense	18	113	30.77	27.10	8	42	SNP	1	T	T	70007369	C	T	70007369	3	4	97	1	0	0	0	0	1	0	0	0	695	643	23	2	1747	2	ANO1	11	70007369	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	381922	70007369	64999147	429	1628											
P2RY2	5029	genome.wustl.edu	37	chr11	72945997	72945997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccattccacgtcaccCgcaccctctactactccttc	6	11	3	21	2	2	0	1	0	1	0	6	0	5	0	6	0	3	1	6	0	2	4	rs148618782		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:72945997C>T	ENST00000311131.2	+	3	1260	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	P2RY2_ENST00000393597.2_Missense_Mutation_p.R265C|P2RY2_ENST00000393596.2_Missense_Mutation_p.R265C	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	265					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)	CCACGTCACCCGCACCCTCTA	0.647																																							0											0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,4400		0,0,2200	116	104	108		793,793,793	4.3	1	11	dbSNP_134	108	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense	P2RY2	NM_002564.2,NM_176071.1,NM_176072.1	180,180,180	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	265/378,265/378,265/378	72945997	1,12985	2200	4293	6493	SO:0001583	missense	0			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.793C>T	11.37:g.72945997C>T	ENSP00000310305:p.Arg265Cys		B2R9W3|Q96EM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt	p.R265C	ENST00000311131.2	37	c.793	CCDS8219.1	11	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417509	0.83449	0.0	1.16E-4	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.38077	1.16;1.16;1.16	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81822	-0.0756	10	0.72032	D	0.01	.	16.0309	0.80577	0.0:1.0:0.0:0.0	.	265	P41231	P2RY2_HUMAN	C	265	ENSP00000377222:R265C;ENSP00000310305:R265C;ENSP00000377221:R265C	ENSP00000310305:R265C	R	+	1	0	P2RY2	72623645	0.998000	0.40836	1.000000	0.80357	0.936000	0.57629	3.833000	0.55790	2.092000	0.63282	0.561000	0.74099	CGC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY2	protein_coding	OTTHUMT00000397336.1	20	97	0	0.00	0	0	C	NM_176072	rs148618782	C->T		72945997	1	no_errors	ENST00000311131	ensembl	human	known	74_37	missense	15	96	20	16.38	4	19	SNP	1	T	T	72945997	C	T	72945997	3	4	97	1	0	0	0	0	1	0	0	0	11352	652	23	2	795	2	P2RY2	11	72945997	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2938628	72945997	62060519	430	1629											
ARHGEF17	9828	genome.wustl.edu	37	chr11	73021101	73021101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcgcctcagagaccctgaCgcttctcagtttcctgcgct	6	12	8	15	3	2	2	2	1	1	1	5	3	3	2	3	0	1	3	3	0	1	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:73021101C>T	ENST00000263674.3	+	1	1768	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	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						GAGACCCTGACGCTTCTCAGT	0.572																																							0											0													73	79	77					11																	73021101		2200	4293	6493	SO:0001583	missense	0			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.1418C>T	11.37:g.73021101C>T	ENSP00000263674:p.Thr473Met		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.T473M	ENST00000263674.3	37	c.1418	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498986	0.64298	.	.	ENSG00000110237	ENST00000263674	T	0.62788	0.0	5.01	4.04	0.47022	.	0.087529	0.42053	D	0.000780	T	0.62048	0.2396	N	0.24115	0.695	0.29704	N	0.839908	D	0.89917	1.0	D	0.64410	0.925	T	0.59799	-0.7386	10	0.87932	D	0	-9.499	9.0058	0.36111	0.165:0.6749:0.1601:0.0	.	473	Q96PE2	ARHGH_HUMAN	M	473	ENSP00000263674:T473M	ENSP00000263674:T473M	T	+	2	0	ARHGEF17	72698749	1.000000	0.71417	0.978000	0.43139	0.653000	0.38743	4.619000	0.61218	2.315000	0.78130	0.462000	0.41574	ACG	0	NULL		0.572	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	protein_coding	OTTHUMT00000397365.1	102	163	0	0.00	0	0	C	NM_014786	0	0		73021101	1	no_errors	ENST00000263674	ensembl	human	known	74_37	missense	64	133	32.63	28.88	31	54	SNP	0.987	T	T	73021101	C	T	73021101	3	4	97	1	0	0	0	0	1	0	0	0	900	536	19	1	1420	1	ARHGEF17	11	73021101	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	75104	73021101	61985415	431	1630											
NDUFC2	4718	genome.wustl.edu	37	chr11	77790746	77790746	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcaggctccgggcctcAtccggcagaaaccgtaaggg	8	4	17	12	3	1	1	1	0	0	1	3	1	3	1	4	6	1	4	4	6	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:77790746A>G	ENST00000281031.4	-	1	519	c.45T>C	c.(43-45)gaT>gaC	p.D15D	NDUFC2-KCTD14_ENST00000528251.1_Silent_p.D15D|NDUFC2-KCTD14_ENST00000530054.1_Silent_p.D15D|NDUFC2_ENST00000525085.1_Silent_p.D15D|NDUFC2_ENST00000527806.1_Silent_p.D15D|NDUFC2_ENST00000528164.1_Silent_p.D15D|NDUFC2_ENST00000534029.1_Silent_p.D15D	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1	O95298	NDUC2_HUMAN	NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		Carvedilol(DB01136)	TCCGGGCCTCATCCGGCAGAA	0.612																																							0											0													16	17	17					11																	77790746		2199	4291	6490	SO:0001819	synonymous_variant	0			AF087659	CCDS8257.1, CCDS55779.1, CCDS55781.1	11q14.1	2011-07-04	2002-08-29		ENSG00000151366	ENSG00000151366		"Mitochondrial respiratory chain complex / Complex I"	7706	protein-coding gene	gene with protein product	"human lung cancer oncogene 1", "complex I subunit B14.5b"	603845	"NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 (14.5kD, B14.5b)"			9878551	Standard	NM_001204055		Approved	B14.5b, HLC-1		O95298		ENST00000281031.4:c.45T>C	11.37:g.77790746A>G			E9PNU8|E9PRB2|Q549M5|Q6FIH8|Q9UBJ9	Silent	SNP	pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su	p.D15	ENST00000281031.4	37	c.45	CCDS8257.1	11																																																																																			0	pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su		0.612	NDUFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFC2	protein_coding	OTTHUMT00000390821.1	9	36	0	0.00	0	0	A	NM_004549	0	0		77790746	-1	no_errors	ENST00000281031	ensembl	human	known	74_37	silent	4	45	50	25.00	4	15	SNP	0.778	G	G	77790746	A	G	77790746	2	3	97	1	0	0	0	0	0	0	0	1	10290	214	8	3		3	NDUFC2	11	77790746	Silent	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	4769645	77790746	57215770	432	1631											
ODZ4	26011	genome.wustl.edu	37	chr11	78380640	78380640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccatcttgtattgcacGtcacccagccgagtgatgcg	8	11	9	13	3	3	1	2	1	1	0	4	2	4	1	3	0	3	2	3	0	1	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:78380640G>A	ENST00000278550.7	-	32	7212	c.6750C>T	c.(6748-6750)gaC>gaT	p.D2250D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2250					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)										TGTATTGCACGTCACCCAGCC	0.572																																							0											0													170	174	172					11																	78380640		2174	4266	6440	SO:0001819	synonymous_variant	0			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.6750C>T	11.37:g.78380640G>A			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.D2250	ENST00000278550.7	37	c.6750	CCDS44688.1	11																																																																																			0	NULL		0.572	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	27	77	0	0.00	0	0	G		0	0		78380640	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	silent	21	71	22.22	21.11	6	19	SNP	0.965	A	A	78380640	G	A	78380640	2	1	97	1	0	0	0	0	0	0	0	1	10837	1136	40	1		1	ODZ4	11	78380640	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	589894	78380640	56625876	433	1632											
ODZ4	26011	genome.wustl.edu	37	chr11	78383337	78383337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctgtgcgtgttacgCgatcaaagtccagagatagg	9	12	11	9	3	3	1	1	0	2	1	5	3	4	1	1	1	2	1	1	1	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:78383337C>T	ENST00000278550.7	-	31	5996	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1845					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)										GCGTGTTACGCGATCAAAGTC	0.517																																							0											0													91	90	90					11																	78383337		1945	4155	6100	SO:0001583	missense	0			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.5534G>A	11.37:g.78383337C>T	ENSP00000278550:p.Arg1845His		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.R1845H	ENST00000278550.7	37	c.5534	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553580	0.65425	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90324	-2.65;0.77	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94195	0.8137	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92704	0.6177	9	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1845	Q6N022	TEN4_HUMAN	H	1845;309	ENSP00000278550:R1845H;ENSP00000431711:R309H	.	R	-	2	0	ODZ4	78060985	1.000000	0.71417	0.977000	0.42913	0.032000	0.12392	5.928000	0.70088	2.941000	0.99782	0.655000	0.94253	CGC	0	NULL		0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	38	178	0	0.00	0	0	C		0	0		78383337	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	32	133	27.27	27.72	12	51	SNP	1	T	T	78383337	C	T	78383337	3	4	97	1	0	0	0	0	1	0	0	0	10837	768	27	1	2791	1	ODZ4	11	78383337	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2697	78383337	56623179	434	1633											
DLG2	1740	genome.wustl.edu	37	chr11	83984195	83984195	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaaaattttccttaccGgaataaatgcatgttgcata	17	12	6	6	1	0	1	0	0	0	1	1	2	1	2	2	1	3	3	2	1	9	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:83984195G>A	ENST00000418306.2	-	1	128	c.104C>T	c.(103-105)cCg>cTg	p.P35L	DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000330014.6_Splice_Site_p.P7L|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000531015.1_Splice_Site_p.P35L	NM_001142700.1	NP_001136172.1	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)				TTTCCTTACCGGAATAAATGC	0.338																																							0											0													37	36	36					11																	83984195		1566	3579	5145	SO:0001630	splice_region_variant	0			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	ENST00000418306.2:c.105+1C>T	11.37:g.83984195G>A			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_PDZ_assoc,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_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.P35L	ENST00000418306.2	37	c.104	CCDS44691.1	11	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590756	0.46214	.	.	ENSG00000150672	ENST00000418306;ENST00000330014;ENST00000531015	T;T;T	0.41065	2.36;2.61;1.01	5.78	5.78	0.91487	.	.	.	.	.	T	0.31918	0.0812	.	.	.	0.80722	D	1	B;B;B	0.18741	0.014;0.03;0.001	B;B;B	0.14578	0.003;0.011;0.001	T	0.07046	-1.0793	7	.	.	.	.	16.747	0.85475	0.0:0.0:1.0:0.0	.	35;7;35	E9PIW2;B7Z264;Q15700-3	.;.;.	L	35;7;35	ENSP00000402275:P35L;ENSP00000381353:P7L;ENSP00000433848:P35L	.	P	-	2	0	DLG2	83661843	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.887000	0.39698	2.717000	0.92951	0.650000	0.86243	CCG	0	superfamily_PDZ,pirsf_M-assoc_guanylate_kinase		0.338	DLG2-013	KNOWN	basic|CCDS	protein_coding	DLG2	protein_coding	OTTHUMT00000393436.1	141	189	0	0.00	0	0	G	NM_001364	0	0	Missense_Mutation	83984195	-1	no_errors	ENST00000418306	ensembl	human	known	74_37	missense	74	154	28.16	29.03	29	63	SNP	1	A	A	83984195	G	A	83984195	5	1	97	1	0	0	0	0	0	0	1	0	4555	1130	39	2	2547	2	DLG2	11	83984195	Splice_Site	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	5600858	83984195	51022321	435	1634											
GPR83	10888	genome.wustl.edu	37	chr11	94134311	94134311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcgaggcattgggcaCggccagggccgcctccgcgc	6	4	17	14	5	0	0	0	0	0	0	1	2	1	0	4	4	1	2	4	4	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:94134311C>T	ENST00000243673.2	-	1	274	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	GPR83_ENST00000539203.2_Missense_Mutation_p.V35M	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	35					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)				GCATTGGGCACGGCCAGGGCC	0.662																																							0											0													48	52	51					11																	94134311		2201	4298	6499	SO:0001583	missense	0			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.103G>A	11.37:g.94134311C>T	ENSP00000243673:p.Val35Met		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.V35M	ENST00000243673.2	37	c.103	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096828	0.37048	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.61274	0.12;0.21	4.4	-0.293	0.12835	.	1.434020	0.04684	N	0.412815	T	0.29458	0.0734	N	0.08118	0	0.09310	N	1	P	0.36027	0.533	B	0.22880	0.042	T	0.19353	-1.0308	10	0.35671	T	0.21	.	4.2926	0.10886	0.1547:0.4164:0.0:0.4288	.	35	Q9NYM4	GPR83_HUMAN	M	35	ENSP00000243673:V35M;ENSP00000441550:V35M	ENSP00000243673:V35M	V	-	1	0	GPR83	93773959	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	-0.455000	0.06762	0.336000	0.23639	-0.369000	0.07265	GTG	0	NULL		0.662	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	protein_coding	OTTHUMT00000396232.1	16	108	0	0.00	0	0	C	NM_016540	0	0		94134311	-1	no_errors	ENST00000243673	ensembl	human	known	74_37	missense	7	79	36.36	21.00	4	21	SNP	0	T	T	94134311	C	T	94134311	3	4	97	1	0	0	0	0	1	0	0	0	6713	536	19	1	1184	1	GPR83	11	94134311	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	10150116	94134311	40872205	436	1635											
CWF19L2	143884	genome.wustl.edu	37	chr11	107328471	107328471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccctggcattccgggtCtgttctttccgctcttcgat	2	15	10	14	4	3	0	0	0	3	0	7	1	5	0	3	3	0	3	3	3	0	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:107328471C>A	ENST00000282251.5	-	1	99	c.72G>T	c.(70-72)caG>caT	p.Q24H	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q24H	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	24							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CATTCCGGGTCTGTTCTTTCC	0.493																																							0											0													113	118	116					11																	107328471		692	1591	2283	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.72G>T	11.37:g.107328471C>A	ENSP00000282251:p.Gln24His		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.Q24H	ENST00000282251.5	37	c.72	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	C	6.186	0.402462	0.11696	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.23950	1.88;1.88	5.11	4.21	0.49690	.	.	.	.	.	T	0.32852	0.0843	M	0.77616	2.38	0.09310	N	1	P	0.49961	0.93	P	0.44732	0.459	T	0.33497	-0.9866	9	0.66056	D	0.02	.	7.1651	0.25685	0.0:0.7378:0.1719:0.0904	.	24	Q2TBE0	C19L2_HUMAN	H	24	ENSP00000282251:Q24H;ENSP00000387533:Q24H	ENSP00000282251:Q24H	Q	-	3	2	CWF19L2	106833681	0.223000	0.23663	0.057000	0.19452	0.104000	0.19210	0.210000	0.17455	1.389000	0.46526	0.591000	0.81541	CAG	0	NULL		0.493	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	protein_coding	OTTHUMT00000328825.2	72	192	0	0.00	0	0	C	NM_152434	0	0		107328471	-1	no_errors	ENST00000282251	ensembl	human	known	74_37	missense	37	143	28.85	35.00	15	77	SNP	0.016	A	A	107328471	C	A	107328471	3	1	97	1	0	0	0	0	1	0	0	0	4072	912	32	5	2684	5	CWF19L2	11	107328471	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	13194160	107328471	27678045	437	1636											
C11orf88	399949	genome.wustl.edu	37	chr11	111386791	111386791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacatctttgccgaagccCtaaagatacaggaatctgag	14	8	10	9	1	2	3	0	1	2	2	2	6	2	4	2	1	3	0	2	1	5	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:111386791C>A	ENST00000375618.4	+	3	295	c.295C>A	c.(295-297)Cta>Ata	p.L99I	C11orf88_ENST00000529167.1_Missense_Mutation_p.L99I|C11orf88_ENST00000332814.6_Missense_Mutation_p.L99I|MIR34C_ENST00000384831.1_RNA|RP11-794P6.6_ENST00000530283.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	99										endometrium(1)|large_intestine(3)|lung(2)	6						TGCCGAAGCCCTAAAGATACA	0.294																																							0											0													75	76	75					11																	111386791		1800	4058	5858	SO:0001583	missense	0			BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"hypothetical gene supported by BC039505"					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.295C>A	11.37:g.111386791C>A	ENSP00000364768:p.Leu99Ile		E9PAN0|Q6ZRL3	Missense_Mutation	SNP	NULL	p.L99I	ENST00000375618.4	37	c.295	CCDS41713.1	11	.	.	.	.	.	.	.	.	.	.	C	7.739	0.700899	0.15172	.	.	ENSG00000183644	ENST00000375618;ENST00000529167;ENST00000332814	.	.	.	4.46	-1.46	0.08800	.	1.337880	0.05164	N	0.498318	T	0.28200	0.0696	L	0.33485	1.01	0.09310	N	1	B;B	0.25719	0.132;0.037	B;B	0.19391	0.021;0.025	T	0.17471	-1.0368	9	0.17832	T	0.49	0.0184	6.6297	0.22849	0.6113:0.2958:0.0:0.0929	.	99;99	E9PAN0;Q6PI97	.;CK088_HUMAN	I	99	.	ENSP00000333845:L99I	L	+	1	2	C11orf88	110892001	0.013000	0.17824	0.004000	0.12327	0.016000	0.09150	0.121000	0.15667	-0.047000	0.13423	-0.169000	0.13324	CTA	0	NULL		0.294	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf88	protein_coding	OTTHUMT00000391181.1	337	230	0	0.00	0	0	C	NM_001100388	0	0		111386791	1	no_errors	ENST00000529167	ensembl	human	known	74_37	missense	201	166	25.28	32.52	68	80	SNP	0.001	A	A	111386791	C	A	111386791	3	1	97	1	0	0	0	0	1	0	0	0	1670	680	24	5	305	5	C11orf88	11	111386791	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	4058320	111386791	23619725	438	1637											
IL18	3606	genome.wustl.edu	37	chr11	112019397	112019397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcacagagatagttacagCcatacctctaggctggctat	11	11	8	11	0	2	1	1	0	1	1	2	2	2	1	2	2	3	3	2	2	5	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:112019397C>T	ENST00000280357.7	-	5	508	c.289G>A	c.(289-291)Gct>Act	p.A97T	IL18_ENST00000528832.1_Missense_Mutation_p.A97T|IL18_ENST00000533858.1_5'UTR|IL18_ENST00000524595.1_Missense_Mutation_p.A93T|SDHD_ENST00000532699.1_Intron	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18	97					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cellular response to organic cyclic compound (GO:0071407)|chemokine biosynthetic process (GO:0042033)|granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0042253)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma biosynthetic process (GO:0042095)|interleukin-13 biosynthetic process (GO:0042231)|interleukin-2 biosynthetic process (GO:0042094)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|natural killer cell activation (GO:0030101)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of gene expression (GO:0010628)|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-17 production (GO:0032740)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of tissue remodeling (GO:0034105)|regulation of cell adhesion (GO:0030155)|sleep (GO:0030431)|T-helper 1 type immune response (GO:0042088)|type 2 immune response (GO:0042092)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-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;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		ATAGTTACAGCCATACCTCTA	0.333																																							0											0													34	32	33					11																	112019397		1769	4005	5774	SO:0001583	missense	0			U90434	CCDS44731.1, CCDS58180.1	11q22.2-q22.3	2014-04-04	2014-04-04		ENSG00000150782	ENSG00000150782		"Interleukins and interleukin receptors"	5986	protein-coding gene	gene with protein product	"interferon-gamma-inducing factor"	600953	"interleukin 18 (interferon-gamma-inducing factor)"			7477296, 9693051	Standard	NM_001562		Approved	IGIF, IL1F4, IL-1g, IL-18	uc001pnb.2	Q14116	OTTHUMG00000167006	ENST00000280357.7:c.289G>A	11.37:g.112019397C>T	ENSP00000280357:p.Ala97Thr		O75599|Q6FGY3|Q6WWJ7	Missense_Mutation	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,pirsf_IL-18,prints_IL-18	p.A97T	ENST00000280357.7	37	c.289	CCDS44731.1	11	.	.	.	.	.	.	.	.	.	.	C	17.90	3.503065	0.64298	.	.	ENSG00000150782	ENST00000280357;ENST00000524595;ENST00000528832	T;T;T	0.18960	2.18;2.18;2.18	4.7	1.65	0.23941	.	0.360213	0.23740	N	0.045024	T	0.29288	0.0729	M	0.74881	2.28	0.18873	N	0.999988	B;P;P	0.39443	0.246;0.674;0.674	B;P;P	0.46850	0.206;0.529;0.529	T	0.10753	-1.0616	10	0.52906	T	0.07	-5.4912	6.4618	0.21960	0.0:0.5455:0.356:0.0985	.	93;97;97	Q6WWJ7;Q14116;Q96KJ8	.;IL18_HUMAN;.	T	97;93;97	ENSP00000280357:A97T;ENSP00000434561:A93T;ENSP00000434161:A97T	ENSP00000280357:A97T	A	-	1	0	IL18	111524607	0.085000	0.21516	0.790000	0.31976	0.360000	0.29518	0.603000	0.24149	0.160000	0.19432	0.655000	0.94253	GCT	0	pfam_IL-1,superfamily_Cytokine_IL1-like,pirsf_IL-18		0.333	IL18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL18	protein_coding	OTTHUMT00000392409.1	252	265	0	0.38	0	1	C	NM_001562	0	0		112019397	-1	no_errors	ENST00000280357	ensembl	human	known	74_37	missense	142	211	26.42	24.64	51	69	SNP	0.241	T	T	112019397	C	T	112019397	3	4	97	1	0	0	0	0	1	0	0	0	7645	739	26	3	300	3	IL18	11	112019397	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	632606	112019397	22987119	439	1638											
AMICA1	120425	genome.wustl.edu	37	chr11	118076603	118076603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccttgttacctttgcGcgccgtcctgaaaatatcca	7	14	6	14	3	0	1	0	1	0	0	4	1	4	1	6	0	2	1	6	0	4	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:118076603G>A	ENST00000356289.5	-	5	701	c.528C>T	c.(526-528)cgC>cgT	p.R176R	AMICA1_ENST00000533261.1_Intron|AMICA1_ENST00000292067.7_Silent_p.R166R|AMICA1_ENST00000526620.1_Silent_p.R137R	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	176	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)		TTACCTTTGCGCGCCGTCCTG	0.473																																							0											0													298	223	249					11																	118076603		2200	4296	6496	SO:0001819	synonymous_variant	0			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.528C>T	11.37:g.118076603G>A			B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.R176	ENST00000356289.5	37	c.528	CCDS41723.1	11																																																																																			0	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.473	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	protein_coding	OTTHUMT00000392105.2	55	225	0	0.00	0	0	G	NM_153206	0	0		118076603	-1	no_errors	ENST00000356289	ensembl	human	known	74_37	silent	37	152	27.45	30.14	14	66	SNP	0	A	A	118076603	G	A	118076603	2	1	97	1	0	0	0	0	0	0	0	1	574	1074	38	1		1	AMICA1	11	118076603	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	6057206	118076603	16929913	440	1639											
BCL9L	283149	genome.wustl.edu	37	chr11	118769235	118769236	+	Frame_Shift_Ins	INS	-	-	G																															ccatgaggttctgctggggcINSggggggcccatgagggagcc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:118769235_118769236insG	ENST00000334801.3	-	8	5352_5353	c.4388_4389insC	c.(4387-4389)ccgfs	p.P1463fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1463					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)		TCTGCTGGGGCGGGGGGCCCAT	0.683																																							0											0																																										SO:0001589	frameshift_variant	0			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.4389dupC	11.37:g.118769241_118769241dupG	ENSP00000335320:p.Pro1463fs		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	pfam_BCL9_beta-catenin-bd_dom	p.P1464fs	ENST00000334801.3	37	c.4389_4388	CCDS8403.1	11																																																																																			0	NULL		0.683	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	protein_coding	OTTHUMT00000389653.1	30	13	0	0.00	0	0	0	NM_182557	0	0		118769236	-1	no_errors	ENST00000334801	ensembl	human	known	74_37	frame_shift_ins	13	17	35	10.53	7	2	INS	0.036:0.989	G	G	118769236	-	G	118769235	7	5	97	1	0	1	1	0	0	0	0	0	1382	755	27	0	114	0	BCL9L	11	118769235	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	692632	118769235	16237281	441	1640											
HYOU1	10525	genome.wustl.edu	37	chr11	118917366	118917366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtccttaggccggggcCggggcttggtaaacttggcc	4	11	15	11	2	1	0	0	0	1	0	2	0	2	0	4	7	1	2	4	7	3	5	rs552980302	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:118917366C>A	ENST00000404233.3	-	23	2868	c.2744G>T	c.(2743-2745)cGg>cTg	p.R915L	HYOU1_ENST00000525859.1_Missense_Mutation_p.R853L|HYOU1_ENST00000529972.1_Missense_Mutation_p.R853L|RP11-110I1.6_ENST00000531886.1_RNA	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	915					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)		AGGCCGGGGCCGGGGCTTGGT	0.572																																							0											0													106	106	106					11																	118917366		2200	4295	6495	SO:0001583	missense	0			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.2744G>T	11.37:g.118917366C>A	ENSP00000384144:p.Arg915Leu		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R915L	ENST00000404233.3	37	c.2744	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885899	0.51908	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01397	4.96;4.94;4.94	6.04	6.04	0.98038	.	0.172443	0.49305	D	0.000147	T	0.01592	0.0051	L	0.43152	1.355	0.80722	D	1	P;P;P;P	0.50066	0.708;0.931;0.708;0.708	B;B;B;B	0.38458	0.235;0.274;0.235;0.235	T	0.61584	-0.7033	10	0.52906	T	0.07	-23.5372	7.9397	0.29950	0.0:0.8153:0.0:0.1847	.	906;897;915;915	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	L	915;906;853;764;853;896	ENSP00000384144:R915L;ENSP00000437313:R853L;ENSP00000433397:R853L	ENSP00000278752:R906L	R	-	2	0	HYOU1	118422576	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	3.580000	0.53907	2.873000	0.98535	0.561000	0.74099	CGG	0	NULL		0.572	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	protein_coding	OTTHUMT00000389353.1	40	208	0	0.00	0	0	C	NM_006389	0	0		118917366	-1	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	29	179	29.27	27.82	12	69	SNP	1	A	A	118917366	C	A	118917366	3	1	97	1	0	0	0	0	1	0	0	0	7470	652	23	5	271	5	HYOU1	11	118917366	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	148131	118917366	16089150	442	1641											
POU2F3	25833	genome.wustl.edu	37	chr11	120176431	120176431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacgatttgaggccctcAacctgagcttcaagaacatg	11	10	8	12	1	3	3	3	2	1	1	4	4	3	3	2	1	3	1	2	1	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:120176431A>G	ENST00000543440.2	+	8	856	c.706A>G	c.(706-708)Aac>Gac	p.N236D	POU2F3_ENST00000260264.4_Missense_Mutation_p.N238D	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	236	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|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 involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TGAGGCCCTCAACCTGAGCTT	0.587																																							0											0													148	125	133					11																	120176431		2203	4299	6502	SO:0001583	missense	0			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.706A>G	11.37:g.120176431A>G	ENSP00000441687:p.Asn236Asp		A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	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.N238D	ENST00000543440.2	37	c.712	CCDS8431.1	11	.	.	.	.	.	.	.	.	.	.	A	33	5.243910	0.95272	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620;ENST00000532638	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.71	5.71	0.89125	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.87625	0.6224	L	0.39566	1.225	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.79784	0.993;0.993	D	0.88694	0.3211	10	0.66056	D	0.02	.	15.9844	0.80138	1.0:0.0:0.0:0.0	.	190;236	E9PIN6;Q9UKI9	.;PO2F3_HUMAN	D	238;236;190;21	ENSP00000441687:N238D;ENSP00000260264:N236D;ENSP00000435738:N190D;ENSP00000436236:N21D	ENSP00000260264:N236D	N	+	1	0	POU2F3	119681641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.179000	0.69175	0.459000	0.35465	AAC	0	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU		0.587	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2F3	protein_coding	OTTHUMT00000388039.2	39	101	0	0.00	0	0	A		0	0		120176431	1	no_errors	ENST00000260264	ensembl	human	known	74_37	missense	21	88	25	22.81	7	26	SNP	1	G	G	120176431	A	G	120176431	3	3	97	1	0	0	0	0	1	0	0	0	12273	130	5	3	736	3	POU2F3	11	120176431	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	1259065	120176431	14830085	443	1642											
C11orf63	79864	genome.wustl.edu	37	chr11	122775018	122775018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttttcctgccgggatcaCgtggccctcggcgaaggaaa	8	8	14	11	4	1	0	1	0	0	0	3	3	2	2	3	5	1	1	3	5	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:122775018C>T	ENST00000531316.1	+	2	822	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	C11orf63_ENST00000307257.6_Missense_Mutation_p.R244C|C11orf63_ENST00000227349.2_Missense_Mutation_p.R244C			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	244					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)		GCCGGGATCACGTGGCCCTCG	0.493																																							0											0													127	117	120					11																	122775018		2202	4299	6501	SO:0001583	missense	0			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.730C>T	11.37:g.122775018C>T	ENSP00000431669:p.Arg244Cys		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.R244C	ENST00000531316.1	37	c.730	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715896	0.68844	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.52526	0.66;0.66	5.74	3.72	0.42706	.	0.323592	0.24445	N	0.038477	T	0.62478	0.2431	M	0.63428	1.95	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.917;0.963	T	0.54938	-0.8218	10	0.72032	D	0.01	-2.9392	11.8111	0.52183	0.4623:0.5377:0.0:0.0	.	244;244	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	C	244	ENSP00000227349:R244C;ENSP00000431669:R244C	ENSP00000227349:R244C	R	+	1	0	C11orf63	122280228	0.000000	0.05858	0.140000	0.22221	0.977000	0.68977	0.441000	0.21611	1.371000	0.46172	0.650000	0.86243	CGT	0	NULL		0.493	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	protein_coding	OTTHUMT00000387511.1	32	231	0	0.00	0	0	C	NM_024806	0	0		122775018	1	no_errors	ENST00000227349	ensembl	human	known	74_37	missense	20	222	31.03	27.92	9	86	SNP	0.044	T	T	122775018	C	T	122775018	3	4	97	1	0	0	0	0	1	0	0	0	1654	536	19	1	736	1	C11orf63	11	122775018	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2598587	122775018	12231498	444	1643											
OR10G8	219869	genome.wustl.edu	37	chr11	123900750	123900750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgactgggcgctcgtgtActcttctggccaccagcact	6	11	11	13	2	2	2	0	2	2	0	3	2	2	2	2	2	2	3	2	2	1	2	rs200971859		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:123900750A>G	ENST00000431524.1	+	1	454	c.421A>G	c.(421-423)Act>Gct	p.T141A		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	141						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)		GCGCTCGTGTACTCTTCTGGC	0.562													A|||	1	0.000199681	0	0	5008	,	,		20490	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0													162	148	153					11																	123900750		2201	4299	6500	SO:0001583	missense	0			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.421A>G	11.37:g.123900750A>G	ENSP00000389072:p.Thr141Ala		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T141A	ENST00000431524.1	37	c.421	CCDS31704.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	0.001	-3.146994	0.00029	.	.	ENSG00000234560	ENST00000431524	T	0.35973	1.28	3.04	-0.0545	0.13813	GPCR, rhodopsin-like superfamily (1);	0.856239	0.09892	N	0.742287	T	0.09905	0.0243	N	0.01751	-0.74	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31833	-0.9929	10	0.02654	T	1	.	2.9405	0.05829	0.3657:0.0:0.4386:0.1957	.	141	Q8NGN5	O10G8_HUMAN	A	141	ENSP00000389072:T141A	ENSP00000389072:T141A	T	+	1	0	OR10G8	123405960	0.000000	0.05858	0.209000	0.23619	0.006000	0.05464	-0.440000	0.06888	-0.129000	0.11620	-0.147000	0.13772	ACT	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.562	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	protein_coding	OTTHUMT00000387270.1	53	23	0	0.00	0	0	A	NM_001004464	rs200971859	A->G		123900750	1	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	27	24	22.86	17.24	8	5	SNP	0	G	G	123900750	A	G	123900750	3	3	97	1	0	0	0	0	1	0	0	0	10903	391	14	3	423	3	OR10G8	11	123900750	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	1125732	123900750	11105766	445	1644											
SIAE	54414	genome.wustl.edu	37	chr11	124509731	124509731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatctggggaaatccatcGtctgagctcttcttagacaa	10	11	10	10	2	4	2	0	1	4	1	6	4	5	4	1	3	1	1	1	3	3	2	rs371229601		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:124509731G>A	ENST00000263593.3	-	8	1171	c.999C>T	c.(997-999)gaC>gaT	p.D333D	SIAE_ENST00000545756.1_Silent_p.D298D			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	333					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)		GAAATCCATCGTCTGAGCTCT	0.438																																							0											0								G	,	0,4402		0,0,2201	164	147	152		894,999	-5.9	0	11		152	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SIAE	NM_001199922.1,NM_170601.4	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	298/489,333/524	124509731	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	0			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.999C>T	11.37:g.124509731G>A			B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	pfam_DUF303_acetylest	p.D333	ENST00000263593.3	37	c.999	CCDS8449.1	11																																																																																			0	NULL		0.438	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAE	protein_coding	OTTHUMT00000387070.1	60	184	0	0.54	0	1	G	NM_170601	rs371229601	G->A		124509731	-1	no_errors	ENST00000263593	ensembl	human	known	74_37	silent	26	153	49.02	28.17	25	60	SNP	0.004	A	A	124509731	G	A	124509731	2	1	97	1	0	0	0	0	0	0	0	1	14298	1136	40	1		1	SIAE	11	124509731	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	608981	124509731	10496785	446	1645											
CHEK1	1111	genome.wustl.edu	37	chr11	125497651	125497651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatgtagtaaaattctatgGtcacaggagagaaggcaata	18	9	10	4	0	2	1	1	0	1	1	2	3	2	2	0	3	0	3	0	3	8	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:125497651G>T	ENST00000534070.1	+	3	470	c.215G>T	c.(214-216)gGt>gTt	p.G72V	CHEK1_ENST00000544373.1_Missense_Mutation_p.G72V|CHEK1_ENST00000428830.2_Missense_Mutation_p.G72V|CHEK1_ENST00000524737.1_Missense_Mutation_p.G72V|CHEK1_ENST00000438015.1_Missense_Mutation_p.G72V|CHEK1_ENST00000278916.3_Missense_Mutation_p.G72V|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000532449.1_Intron	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	72	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	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;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AAATTCTATGGTCACAGGAGA	0.323								Other conserved DNA damage response genes																															0											0													89	94	93					11																	125497651		2201	4299	6500	SO:0001583	missense	0			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"CHK1 (checkpoint, S.pombe) homolog", "CHK1 checkpoint homolog (S. pombe)"			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.215G>T	11.37:g.125497651G>T	ENSP00000435371:p.Gly72Val		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	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.G72V	ENST00000534070.1	37	c.215	CCDS8459.1	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388690	0.82902	.	.	ENSG00000149554	ENST00000438015;ENST00000525396;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534685;ENST00000534070;ENST00000524737;ENST00000278916	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	5.5	4.58	0.56647	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	0.59595	0.2205	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.66582	-0.5887	10	0.56958	D	0.05	.	16.3569	0.83237	0.0:0.1324:0.8676:0.0	.	72;72;72	F5H7S4;B5BTY6;O14757	.;.;CHK1_HUMAN	V	72	ENSP00000388648:G72V;ENSP00000434141:G72V;ENSP00000412504:G72V;ENSP00000442317:G72V;ENSP00000431525:G72V;ENSP00000431815:G72V;ENSP00000432470:G72V;ENSP00000435371:G72V;ENSP00000432890:G72V;ENSP00000278916:G72V	ENSP00000278916:G72V	G	+	2	0	CHEK1	125002861	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.787000	0.91830	1.453000	0.47775	-0.182000	0.12963	GGT	0	pfam_Prot_kinase_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		0.323	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CHEK1	protein_coding	OTTHUMT00000386714.1	90	249	0	0.00	0	0	G	NM_001274	0	0		125497651	1	no_errors	ENST00000438015	ensembl	human	known	74_37	missense	40	198	37.5	25.56	24	68	SNP	1	T	T	125497651	G	T	125497651	3	4	97	1	0	0	0	0	1	0	0	0	3334	1261	44	5	221	5	CHEK1	11	125497651	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	987920	125497651	9508865	447	1646											
FLI1	2313	genome.wustl.edu	37	chr11	128628012	128628012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctggccctgcaggaGgctctgtcggtggtgagcga	4	11	15	11	2	3	1	0	1	3	0	5	3	3	2	1	5	2	2	1	5	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:128628012G>T	ENST00000527786.2	+	2	510	c.21G>T	c.(19-21)gaG>gaT	p.E7D	FLI1_ENST00000344954.6_5'UTR|FLI1_ENST00000534087.2_5'UTR|FLI1_ENST00000525560.1_5'UTR	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	7					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)		CCCTGCAGGAGGCTCTGTCGG	0.622			T	EWSR1	Ewing sarcoma																																		0		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													30	34	33					11																	128628012		2169	4274	6443	SO:0001583	missense	0			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.21G>T	11.37:g.128628012G>T	ENSP00000433488:p.Glu7Asp		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.E7D	ENST00000527786.2	37	c.21	CCDS44768.1	11	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860902	0.91433	.	.	ENSG00000151702	ENST00000429175	T	0.29397	1.57	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51148	-0.8742	10	0.87932	D	0	.	12.526	0.56087	0.0763:0.0:0.9237:0.0	.	7	Q01543	FLI1_HUMAN	D	7	ENSP00000399985:E7D	ENSP00000399985:E7D	E	+	3	2	FLI1	128133222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.657000	0.83745	2.520000	0.84964	0.561000	0.74099	GAG	0	NULL		0.622	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLI1	protein_coding	OTTHUMT00000386226.2	14	115	0	0.00	0	0	G	NM_002017	0	0		128628012	1	no_errors	ENST00000527786	ensembl	human	known	74_37	missense	13	94	23.53	16.07	4	18	SNP	1	T	T	128628012	G	T	128628012	3	4	97	1	0	0	0	0	1	0	0	0	5924	991	35	5	27	5	FLI1	11	128628012	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3130361	128628012	6378504	448	1647											
GLB1L2	89944	genome.wustl.edu	37	chr11	134237185	134237185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgatggagtactggaCggggtggtttgactcgtggg	6	11	20	4	2	0	2	0	2	0	0	1	5	0	4	0	7	1	2	0	7	1	2	rs147686340		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:134237185C>T	ENST00000535456.2	+	9	1027	c.839C>T	c.(838-840)aCg>aTg	p.T280M	GLB1L2_ENST00000389881.3_Missense_Mutation_p.T280M|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.T280M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	280					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)		GAGTACTGGACGGGGTGGTTT	0.502																																							0											0								C	MET/THR	1,4401	2.1+/-5.4	0,1,2200	171	144	154		839	5.5	1	11	dbSNP_134	154	0,8594		0,0,4297	no	missense	GLB1L2	NM_138342.3	81	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	280/637	134237185	1,12995	2201	4297	6498	SO:0001583	missense	0				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.839C>T	11.37:g.134237185C>T	ENSP00000444628:p.Thr280Met		A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.T280M	ENST00000535456.2	37	c.839	CCDS31724.1	11	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947863	0.92593	2.27E-4	0.0	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.98164	-4.76;-4.76;-4.76	5.51	5.51	0.81932	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.113852	0.64402	D	0.000009	D	0.99211	0.9726	M	0.93978	3.48	0.58432	D	0.999996	D	0.76494	0.999	D	0.69479	0.964	D	0.99257	1.0889	10	0.87932	D	0	-12.5211	18.1928	0.89812	0.0:1.0:0.0:0.0	.	280	Q8IW92	GLBL2_HUMAN	M	280	ENSP00000344659:T280M;ENSP00000444628:T280M;ENSP00000374531:T280M	ENSP00000344659:T280M	T	+	2	0	GLB1L2	133742395	1.000000	0.71417	0.960000	0.40013	0.997000	0.91878	6.799000	0.75160	2.589000	0.87451	0.655000	0.94253	ACG	0	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35		0.502	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	protein_coding	OTTHUMT00000393629.2	74	210	1.33	0.00	1	0	C	NM_138342	rs147686340	C->T		134237185	1	no_errors	ENST00000339772	ensembl	human	known	74_37	missense	56	164	28.21	30.96	22	74	SNP	0.999	T	T	134237185	C	T	134237185	3	4	97	1	0	0	0	0	1	0	0	0	6429	536	19	1	873	1	GLB1L2	11	134237185	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	5609173	134237185	769331	449	1648											
IQSEC3	440073	genome.wustl.edu	37	chr12	266277	266277	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatccgtgtgcagggggAggctcagaaggtggagcggc	9	5	18	9	2	1	1	1	0	0	1	2	3	2	3	1	6	2	2	1	6	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:266277A>G	ENST00000538872.1	+	6	2358	c.2240A>G	c.(2239-2241)gAg>gGg	p.E747G	IQSEC3_ENST00000326261.4_Missense_Mutation_p.E747G|IQSEC3_ENST00000382841.2_Missense_Mutation_p.E444G			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	747	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				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)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GTGCAGGGGGAGGCTCAGAAG	0.652																																							0											0													39	35	37					12																	266277		2199	4300	6499	SO:0001583	missense	0			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2240A>G	12.37:g.266277A>G	ENSP00000437554:p.Glu747Gly		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.E747G	ENST00000538872.1	37	c.2240	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990332	0.54041	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.73575	-0.76;-0.76;-0.76	3.7	3.7	0.42460	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.050671	0.85682	D	0.000000	D	0.90553	0.7039	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93198	0.6589	10	0.87932	D	0	.	12.6737	0.56882	1.0:0.0:0.0:0.0	.	747;444	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	G	747;747;444	ENSP00000437554:E747G;ENSP00000315662:E747G;ENSP00000372292:E444G	ENSP00000315662:E747G	E	+	2	0	IQSEC3	136538	1.000000	0.71417	0.940000	0.37924	0.058000	0.15608	9.157000	0.94714	1.472000	0.48140	0.260000	0.18958	GAG	0	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom		0.652	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	protein_coding	OTTHUMT00000397382.3	23	94	4	0.00	1	0	A	XM_495902	0	0		266277	1	no_errors	ENST00000326261	ensembl	human	known	74_37	missense	10	60	50	23.08	10	18	SNP	1	G	G	266277	A	G	266277	3	3	97	1	0	0	0	0	1	0	0	0	7819	304	11	4	2262	4	IQSEC3	12	266277	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09		266277	133585618	450	1649											
VWF	7450	genome.wustl.edu	37	chr12	6132810	6132810	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcacggcacaatgtggcCgtcctccaggtcaccacctt	8	9	8	16	2	2	0	2	0	0	0	4	0	4	0	5	3	1	1	5	3	2	2	rs373172467		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:6132810C>T	ENST00000261405.5	-	25	3620	c.3366G>A	c.(3364-3366)acG>acA	p.T1122T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1122					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)	ACAATGTGGCCGTCCTCCAGG	0.577																																							0											0								C		1,4405		0,1,2202	74	66	69		3366	-10.2	0	12		69	0,8600		0,0,4300	no	coding-synonymous	VWF	NM_000552.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1122/2814	6132810	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				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.3366G>A	12.37:g.6132810C>T			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.T1122	ENST00000261405.5	37	c.3366	CCDS8539.1	12																																																																																			0	pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	114	90	0	0.00	0	0	C	NM_000552	rs373172467	C->T		6132810	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	69	56	28.12	28.40	27	23	SNP	0	T	T	6132810	C	T	6132810	2	4	97	1	0	0	0	0	0	0	0	1	17243	639	23	2		2	VWF	12	6132810	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	5866533	6132810	127719085	451	1650											
SCNN1A	6337	genome.wustl.edu	37	chr12	6471270	6471270	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaagatgaagttgcccagCgtgtcctcctccagggatgg	8	8	14	11	2	0	2	0	1	0	1	3	4	3	3	4	2	2	1	4	2	2	1	rs372634287		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:6471270C>T	ENST00000228916.2	-	4	920	c.822G>A	c.(820-822)acG>acA	p.T274T	SCNN1A_ENST00000543768.1_Silent_p.T297T|SCNN1A_ENST00000360168.3_Silent_p.T333T|SCNN1A_ENST00000358945.3_Silent_p.T274T|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000396966.2_Silent_p.T274T	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	274					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)	AGTTGCCCAGCGTGTCCTCCT	0.617																																							0											0								C	,,	1,4405	2.1+/-5.4	0,1,2202	111	95	100		822,891,999	-5.7	0	12		100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SCNN1A	NM_001038.5,NM_001159575.1,NM_001159576.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	274/670,297/693,333/729	6471270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.822G>A	12.37:g.6471270C>T			A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.T274	ENST00000228916.2	37	c.822	CCDS8543.1	12																																																																																			0	pfam_Na+channel_ASC,tigrfam_EnaC		0.617	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	protein_coding	OTTHUMT00000399055.1	43	89	0	0.00	0	0	C		rs372634287	C->T		6471270	-1	no_errors	ENST00000358945	ensembl	human	known	74_37	silent	16	66	46.67	32.65	14	32	SNP	0	T	T	6471270	C	T	6471270	2	4	97	1	0	0	0	0	0	0	0	1	13927	755	27	1		1	SCNN1A	12	6471270	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	338460	6471270	127380625	452	1651											
NOP2	4839	genome.wustl.edu	37	chr12	6669943	6669943	+	Frame_Shift_Del	DEL	C	C	-																															ccagcagtactcggtcaaagCcccccaccacctggagaaaa																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:6669943delC	ENST00000322166.5	-	13	1479	c.1358delG	c.(1357-1359)ggcfs	p.G453fs	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Frame_Shift_Del_p.G486fs|NOP2_ENST00000537442.1_Frame_Shift_Del_p.G453fs|NOP2_ENST00000399466.2_Frame_Shift_Del_p.G449fs|NOP2_ENST00000541778.1_Frame_Shift_Del_p.G449fs|NOP2_ENST00000545200.1_Frame_Shift_Del_p.G449fs	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	453					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						TCGGTCAAAGCCCCCCACCAC	0.522																																							0											0													37	40	39					12																	6669943		1994	4170	6164	SO:0001589	frameshift_variant	0				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.1358delG	12.37:g.6669943delC	ENSP00000313272:p.Gly453fs		A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Frame_Shift_Del	DEL	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.G453fs	ENST00000322166.5	37	c.1358	CCDS58203.1	12																																																																																			0	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,tigrfam_Nop2p		0.522	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	protein_coding	OTTHUMT00000402614.1	27	200	0	0.00	0	0	C	NM_006170	0	0		6669943	-1	no_errors	ENST00000322166	ensembl	human	known	74_37	frame_shift_del	17	144	29.17	27.27	7	54	DEL	1	0	-	6669943	C	-	6669943	7	5	97	1	0	1	0	1	0	0	0	0	10538	739	26	0	1096	0	NOP2	12	6669943	Frame_Shift_Del	DEL	C	TCGA-ZB-A966-01A-11D-A428-09	198673	6669943	127181952	453	1652											
CD4	920	genome.wustl.edu	37	chr12	6927635	6927636	+	Frame_Shift_Ins	INS	-	-	G																															ccaatggccctgattgtgctINSggggggcgtcgccggcctcc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:6927635_6927636insG	ENST00000011653.4	+	8	1463_1464	c.1205_1206insG	c.(1204-1209)ctggggfs	p.LG402fs		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	402					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CTGATTGTGCTGGGGGGCGTCG	0.629																																							0											0																																										SO:0001589	frameshift_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	protein-coding gene	gene with protein product		186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1211dupG	12.37:g.6927641_6927641dupG	ENSP00000011653:p.Leu402fs		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4	p.V405fs	ENST00000011653.4	37	c.1205_1206	CCDS8562.1	12																																																																																			0	NULL		0.629	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	protein_coding	OTTHUMT00000399978.1	25	64	0	0.00	0	0	0	NM_000616	0	0		6927636	1	no_errors	ENST00000011653	ensembl	human	known	74_37	frame_shift_ins	19	54	26.92	26.03	7	19	INS	0.034:0.049	G	G	6927636	-	G	6927635	7	5	97	1	0	1	1	0	0	0	0	0	3014	1580	55	0	1231	0	CD4	12	6927635	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	257692	6927635	126924260	454	1653											
A2ML1	144568	genome.wustl.edu	37	chr12	9009835	9009835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtggcgagcagaacaTggtcttgtttgctcccatca	7	12	12	10	1	2	1	1	0	1	1	3	2	3	1	1	3	3	4	1	3	1	2	rs202179061		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:9009835T>C	ENST00000299698.7	+	24	3104	c.2924T>C	c.(2923-2925)aTg>aCg	p.M975T	A2ML1_ENST00000539547.1_Missense_Mutation_p.M484T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 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						GAGCAGAACATGGTCTTGTTT	0.547													T|||	1	0.000199681	0	0	5008	,	,		-128	0		0.001	False		,,,				2504	0						0.9998,0.0001997											0								T	THR/MET	0,4056		0,0,2028	164	169	168		2924	2.6	1	12		168	8,8388		0,8,4190	yes	missense	A2ML1	NM_144670.3	81	0,8,6218	CC,CT,TT		0.0953,0.0,0.0642	probably-damaging	975/1455	9009835	8,12444	2028	4198	6226	SO:0001583	missense	0			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.2924T>C	12.37:g.9009835T>C	ENSP00000299698:p.Met975Thr			Missense_Mutation	SNP	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.M975T	ENST00000299698.7	37	c.2924	CCDS8596.2	12	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	15.11	2.734737	0.48939	0.0	9.53E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.69040	-0.37;-0.37;-0.37	3.73	2.56	0.30785	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);Alpha-2-macroglobulin, conserved site (1);	0.083513	0.48286	N	0.000183	D	0.82852	0.5127	M	0.92970	3.365	0.41050	D	0.985294	D	0.89917	1.0	D	0.91635	0.999	T	0.83005	-0.0175	10	0.87932	D	0	.	8.0817	0.30748	0.0:0.1014:0.0:0.8986	.	975	A8K2U0	A2ML1_HUMAN	T	975;975;525;484	ENSP00000299698:M975T;ENSP00000443174:M525T;ENSP00000438292:M484T	ENSP00000299698:M975T	M	+	2	0	A2ML1	8901102	1.000000	0.71417	0.968000	0.41197	0.684000	0.39900	4.864000	0.62990	0.602000	0.29896	0.379000	0.24179	ATG	0	pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase		0.547	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	protein_coding	OTTHUMT00000250304.3	50	103	0	0.00	0	0	T	NM_144670	rs202179061	T->C		9009835	1	no_errors	ENST00000299698	ensembl	human	known	74_37	missense	33	78	19.51	30.36	8	34	SNP	1	C	C	9009835	T	C	9009835	3	2	97	1	0	0	0	0	1	0	0	0	5	1464	51	3	3018	3	A2ML1	12	9009835	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	2082200	9009835	124842060	455	1654											
TAS2R14	50840	genome.wustl.edu	37	chr12	11091565	11091566	+	Frame_Shift_Ins	INS	-	-	T																															attagtaagcattctgaacaINSttttttcagtggcaaataaa																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:11091565_11091566insT	ENST00000537503.1	-	1	296_297	c.241_242insA	c.(241-243)atgfs	p.M81fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CATTCTGAACATTTTTTCAGTG	0.391																																							0											0										0,4264		0,0,2132						-4.6	0			56	1,8253		0,1,4126	no	frameshift	TAS2R14	NM_023922.1		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	0			AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.242dupA	12.37:g.11091571_11091571dupT	ENSP00000441949:p.Met81fs		Q645X3	Frame_Shift_Ins	INS	pfam_TAS2_rcpt	p.M81fs	ENST00000537503.1	37	c.242_241	CCDS8637.1	12																																																																																			0	pfam_TAS2_rcpt		0.391	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TAS2R14	protein_coding	OTTHUMT00000370194.4	104	261	0	0.00	0	0	0	NM_023922	0	0		11091566	-1	no_errors	ENST00000537503	ensembl	human	known	74_37	frame_shift_ins	57	218	31.33	24.04	26	69	INS	0.000:0.000	T	T	11091566	-	T	11091565	7	5	97	1	0	1	1	0	0	0	0	0	15565	217	8	0	714	0	TAS2R14	12	11091565	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	2081730	11091565	122760330	456	1655											
GPRC5A	9052	genome.wustl.edu	37	chr12	13062048	13062048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtaaacctcaactcGtgaagaagagctatggtgtg	11	12	10	8	1	2	3	1	1	1	2	3	3	2	3	1	1	3	2	1	1	6	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:13062048G>A	ENST00000014914.5	+	2	1755	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	289					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)	ACCTCAACTCGTGAAGAAGAG	0.473																																							0											0													69	63	65					12																	13062048		2203	4300	6503	SO:0001583	missense	0			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.865G>A	12.37:g.13062048G>A	ENSP00000014914:p.Val289Met		B3KV45|O95357	Missense_Mutation	SNP	pfam_GPCR_3_C	p.V289M	ENST00000014914.5	37	c.865	CCDS8657.1	12	.	.	.	.	.	.	.	.	.	.	g	0.162	-1.080360	0.01888	.	.	ENSG00000013588	ENST00000014914;ENST00000540125	T	0.17213	2.29	5.86	4.69	0.59074	.	0.179946	0.51477	N	0.000090	T	0.04679	0.0127	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36212	-0.9757	10	0.22706	T	0.39	-0.7112	4.2806	0.10831	0.6807:0.1293:0.0663:0.1237	.	289;289	Q8NFJ5;A8K556	RAI3_HUMAN;.	M	289;16	ENSP00000014914:V289M	ENSP00000014914:V289M	V	+	1	0	GPRC5A	12953315	0.949000	0.32298	0.915000	0.36163	0.177000	0.22998	1.699000	0.37804	0.452000	0.26830	-0.269000	0.10298	GTG	0	NULL		0.473	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5A	protein_coding	OTTHUMT00000400682.1	59	265	0	0.00	0	0	G		0	0		13062048	1	no_errors	ENST00000014914	ensembl	human	known	74_37	missense	55	283	8.33	5.98	5	18	SNP	0.989	A	A	13062048	G	A	13062048	3	1	97	1	0	0	0	0	1	0	0	0	6724	1145	40	1	867	1	GPRC5A	12	13062048	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1970483	13062048	120789847	457	1656											
ABCC9	10060	genome.wustl.edu	37	chr12	21997479	21997480	+	Frame_Shift_Ins	INS	-	-	A																															agtcccaggggtgtggtatcINSaaaaaacctaggcaataaac																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:21997479_21997480insA	ENST00000261201.4	-	26	3251_3252	c.3252_3253insT	c.(3250-3255)tttgatfs	p.D1085fs	ABCC9_ENST00000261200.4_Frame_Shift_Ins_p.D1085fs|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Frame_Shift_Ins_p.D1049fs	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1085	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	GGTGTGGTATCAAAAAACCTAG	0.371																																							0											0																																										SO:0001589	frameshift_variant	0			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.3253dupT	12.37:g.21997485_21997485dupA	ENSP00000261201:p.Asp1085fs		O60707	Frame_Shift_Ins	INS	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.D1084fs	ENST00000261201.4	37	c.3253_3252	CCDS8694.1	12																																																																																			0	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.371	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	protein_coding	OTTHUMT00000402230.1	81	152	0	0.00	0	0	0	NM_005691	0	0		21997480	-1	no_errors	ENST00000261200	ensembl	human	known	74_37	frame_shift_ins	72	142	20	29.70	18	60	INS	1.000:1.000	A	A	21997480	-	A	21997479	7	5	97	1	0	1	1	0	0	0	0	0	59	826	29	0	1590	0	ABCC9	12	21997479	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	8935431	21997479	111854416	458	1657											
ARID2	196528	genome.wustl.edu	37	chr12	46243410	46243410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagtggaggattccagtaGcaatgggcaggcacatattc	12	8	14	7	0	0	1	0	0	0	1	2	4	1	3	1	4	1	4	1	4	3	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:46243410G>A	ENST00000334344.6	+	14	1935	c.1763G>A	c.(1762-1764)aGc>aAc	p.S588N	ARID2_ENST00000422737.1_Missense_Mutation_p.S439N|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.S198N|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	588					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)		GATTCCAGTAGCAATGGGCAG	0.403			"N, S, F"		hepatocellular carcinoma																																		0		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													245	218	227					12																	46243410		2203	4300	6503	SO:0001583	missense	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1763G>A	12.37:g.46243410G>A	ENSP00000335044:p.Ser588Asn		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.S588N	ENST00000334344.6	37	c.1763	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	A	2.819	-0.245310	0.05906	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	D;D;D	0.82893	-1.66;-1.66;-1.66	5.76	2.06	0.26882	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.454766	0.27227	N	0.020327	T	0.52725	0.1752	N	0.01576	-0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50065	-0.8871	10	0.02654	T	1	-0.7291	8.9863	0.35997	0.6832:0.0:0.3168:0.0	.	588;588	Q68CP9-3;Q68CP9	.;ARID2_HUMAN	N	588;439;198	ENSP00000335044:S588N;ENSP00000415650:S439N;ENSP00000397307:S198N	ENSP00000335044:S588N	S	+	2	0	ARID2	44529677	0.959000	0.32827	0.753000	0.31225	0.856000	0.48823	0.471000	0.22100	-0.110000	0.12022	-0.254000	0.11334	AGC	0	NULL		0.403	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	protein_coding	OTTHUMT00000318380.2	121	210	0	0.00	0	0	G	XM_350875	0	0		46243410	1	no_errors	ENST00000334344	ensembl	human	known	74_37	missense	63	169	25	24.00	21	54	SNP	0.996	A	A	46243410	G	A	46243410	3	1	97	1	0	0	0	0	1	0	0	0	915	971	34	3	1817	3	ARID2	12	46243410	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	24245931	46243410	87608485	459	1658											
PFKM	5213	genome.wustl.edu	37	chr12	48528050	48528050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttagaagtaatgggccGccactgtgggtaagatcctc	9	11	13	8	1	0	2	0	0	0	2	2	2	1	2	3	2	0	3	3	2	4	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:48528050G>A	ENST00000312352.7	+	7	668	c.629G>A	c.(628-630)cGc>cAc	p.R210H	PFKM_ENST00000547587.1_Missense_Mutation_p.R210H|PFKM_ENST00000551804.1_Missense_Mutation_p.R210H|PFKM_ENST00000340802.6_Missense_Mutation_p.R281H|PFKM_ENST00000359794.5_Missense_Mutation_p.R210H|PFKM_ENST00000395233.2_Missense_Mutation_p.R210H	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	210	N-terminal catalytic PFK domain 1.|Substrate binding. {ECO:0000255|HAMAP- Rule:MF_03184}.				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						GTAATGGGCCGCCACTGTGGG	0.507																																							0											0													176	157	164					12																	48528050		2203	4300	6503	SO:0001583	missense	0			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.629G>A	12.37:g.48528050G>A	ENSP00000309438:p.Arg210His		J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.R210H	ENST00000312352.7	37	c.629	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.267825	0.95399	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	4.54	4.54	0.55810	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	M	0.87547	2.89	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	D	0.94803	0.7972	10	0.87932	D	0	-14.0999	17.2641	0.87081	0.0:0.0:1.0:0.0	.	210;210;281	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	H	281;210;210;210;210;210	ENSP00000345771:R281H;ENSP00000352842:R210H;ENSP00000378656:R210H;ENSP00000448177:R210H;ENSP00000449426:R210H;ENSP00000309438:R210H	ENSP00000309438:R210H	R	+	2	0	PFKM	46814317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.797000	0.96272	0.655000	0.94253	CGC	0	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk		0.507	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	protein_coding	OTTHUMT00000406490.1	63	225	1.56	0.00	1	0	G	NM_000289	0	0		48528050	1	no_errors	ENST00000312352	ensembl	human	known	74_37	missense	27	183	20.59	31.97	7	86	SNP	1	A	A	48528050	G	A	48528050	3	1	97	1	0	0	0	0	1	0	0	0	11765	1087	38	1	872	1	PFKM	12	48528050	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2284640	48528050	85323845	460	1659											
RARG	5916	genome.wustl.edu	37	chr12	53608001	53608001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagatccagctgcacgcGgtggtctgcactggagttct	6	9	12	14	2	2	1	0	0	2	1	3	2	3	2	3	3	3	4	3	3	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:53608001G>T	ENST00000425354.2	-	7	1142	c.655C>A	c.(655-657)Cgc>Agc	p.R219S	RARG_ENST00000338561.5_Missense_Mutation_p.R208S|RARG_ENST00000327550.3_Missense_Mutation_p.R147S|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.R197S|RARG_ENST00000394426.1_Missense_Mutation_p.R219S	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	219	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|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)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|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)|zinc ion binding (GO:0008270)	p.R219C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGCTGCACGCGGTGGTCTGCA	0.567																																							0											1	Substitution - Missense(1)	large_intestine(1)											77	67	70					12																	53608001		2203	4300	6503	SO:0001583	missense	0			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.655C>A	12.37:g.53608001G>T	ENSP00000388510:p.Arg219Ser		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	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.R219S	ENST00000425354.2	37	c.655	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564055	0.45694	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.37	5.37	0.77165	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.83603	2.65	0.80722	D	1	B;D;D;B	0.76494	0.397;0.997;0.999;0.328	P;D;D;B	0.77557	0.635;0.96;0.99;0.091	T	0.51965	-0.8638	10	0.24483	T	0.36	.	11.8888	0.52618	0.0:0.0:0.7219:0.2781	.	256;197;219;208	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	S	219;219;147;208;197;256	ENSP00000388510:R219S;ENSP00000377947:R219S;ENSP00000332695:R147S;ENSP00000343698:R208S;ENSP00000444335:R197S	ENSP00000332695:R147S	R	-	1	0	RARG	51894268	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.445000	0.44899	2.688000	0.91661	0.563000	0.77884	CGC	0	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt		0.567	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	protein_coding	OTTHUMT00000109404.2	16	97	0	0.00	0	0	G	NM_000966	0	0		53608001	-1	no_errors	ENST00000394426	ensembl	human	known	74_37	missense	10	56	23.08	25.33	3	19	SNP	1	T	T	53608001	G	T	53608001	3	4	97	1	0	0	0	0	1	0	0	0	13054	1116	39	5	725	5	RARG	12	53608001	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	5079951	53608001	80243894	461	1660											
AMHR2	269	genome.wustl.edu	37	chr12	53819610	53819610	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgaacttccaggcctacaGcacgaccacattgtccgatt	11	9	7	14	3	0	0	0	0	0	0	2	3	2	0	4	1	4	1	4	1	3	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:53819610G>A	ENST00000257863.4	+	6	839	c.759G>A	c.(757-759)caG>caA	p.Q253Q	AMHR2_ENST00000379791.3_Silent_p.Q253Q|AMHR2_ENST00000550311.1_Silent_p.Q253Q	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	CAGGCCTACAGCACGACCACA	0.592																																							0											0													74	64	67					12																	53819610		2203	4300	6503	SO:0001819	synonymous_variant	0			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.759G>A	12.37:g.53819610G>A			A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	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.Q253	ENST00000257863.4	37	c.759	CCDS8858.1	12																																																																																			0	pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_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	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	protein_coding	OTTHUMT00000407048.1	37	112	0	0.00	0	0	G	NM_020547	0	0		53819610	1	no_errors	ENST00000257863	ensembl	human	known	74_37	silent	17	113	39.29	29.38	11	47	SNP	0.475	A	A	53819610	G	A	53819610	2	1	97	1	0	0	0	0	0	0	0	1	573	962	34	3		3	AMHR2	12	53819610	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	211609	53819610	80032285	462	1661											
PCBP2	5094	genome.wustl.edu	37	chr12	53865444	53865444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattggctgcataatcgggcGtcaaggcgccaaaatcaatg	12	8	12	9	3	2	0	2	0	0	0	3	1	2	0	1	3	1	2	1	3	5	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:53865444G>A	ENST00000439930.3	+	13	936	c.914G>A	c.(913-915)cGt>cAt	p.R305H	PCBP2_ENST00000552296.2_Missense_Mutation_p.R301H|PCBP2_ENST00000548933.1_Missense_Mutation_p.R275H|PCBP2_ENST00000455667.3_Missense_Mutation_p.R258H|PCBP2_ENST00000603815.1_Missense_Mutation_p.R305H|PCBP2_ENST00000447282.1_Missense_Mutation_p.R275H|PCBP2_ENST00000549863.1_Missense_Mutation_p.R261H|PCBP2_ENST00000359462.5_Missense_Mutation_p.R306H|PCBP2_ENST00000437231.1_Missense_Mutation_p.R258H|PCBP2_ENST00000359282.5_Missense_Mutation_p.R271H|PCBP2_ENST00000546463.1_Missense_Mutation_p.R302H|PCBP2_ENST00000552819.1_Missense_Mutation_p.R262H			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	305	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)	p.R306H(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATAATCGGGCGTCAAGGCGCC	0.498																																							0											1	Substitution - Missense(1)	central_nervous_system(1)											54	44	47					12																	53865444		2203	4300	6503	SO:0001583	missense	0			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.914G>A	12.37:g.53865444G>A	ENSP00000408949:p.Arg305His		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.R305H	ENST00000439930.3	37	c.914	CCDS44901.1	12	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536741	0.65085	.	.	ENSG00000197111	ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;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;1.22;1.22;1.22	5.12	4.24	0.50183	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	M	0.68593	2.085	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.32010	0.001;0.055;0.009;0.027;0.009;0.351;0.055;0.02;0.02;0.033	B;B;B;B;B;B;B;B;B;B	0.29176	0.004;0.063;0.047;0.019;0.064;0.099;0.038;0.034;0.064;0.047	T	0.37798	-0.9690	10	0.87932	D	0	.	12.6068	0.56527	0.0816:0.0:0.9184:0.0	.	262;263;305;248;275;258;301;271;306;302	B4DXP5;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	H	271;275;258;305;261;306;248;302;301;263;262;258;275;222;135	ENSP00000352228:R271H;ENSP00000394116:R275H;ENSP00000390304:R258H;ENSP00000408949:R305H;ENSP00000447670:R261H;ENSP00000352438:R306H;ENSP00000448762:R302H;ENSP00000448927:R301H;ENSP00000449070:R262H;ENSP00000388008:R258H;ENSP00000449062:R275H	ENSP00000352228:R271H	R	+	2	0	PCBP2	52151711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.564000	0.98151	1.396000	0.46663	0.650000	0.86243	CGT	0	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.498	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	PCBP2	protein_coding	OTTHUMT00000407545.2	45	168	0	0.00	0	0	G	NM_005016	0	0		53865444	1	no_errors	ENST00000603815	ensembl	human	known	74_37	missense	36	110	7.69	25.17	3	37	SNP	1	A	A	53865444	G	A	53865444	3	1	97	1	0	0	0	0	1	0	0	0	11501	1145	40	1	967	1	PCBP2	12	53865444	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	45834	53865444	79986451	463	1662											
OR6C1	390321	genome.wustl.edu	37	chr12	55715136	55715136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtctccatctcttatggCagctgcatttttatgtacat	7	18	7	9	0	2	0	0	0	2	0	4	0	2	0	1	1	3	5	1	1	3	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:55715136C>T	ENST00000379668.2	+	1	791	c.753C>T	c.(751-753)ggC>ggT	p.G251G		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	251						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						TCTCTTATGGCAGCTGCATTT	0.423																																							0											0													105	99	101					12																	55715136		2203	4300	6503	SO:0001819	synonymous_variant	0			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.753C>T	12.37:g.55715136C>T			B2RNM0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G251	ENST00000379668.2	37	c.753	CCDS31818.1	12																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.423	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	protein_coding	OTTHUMT00000398152.1	75	216	0	0.92	0	2	C	NM_001005182	0	0		55715136	1	no_errors	ENST00000379668	ensembl	human	known	74_37	silent	41	200	28.07	30.07	16	86	SNP	0.027	T	T	55715136	C	T	55715136	2	4	97	1	0	0	0	0	0	0	0	1	11190	697	25	3		3	OR6C1	12	55715136	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1849692	55715136	78136759	464	1663											
OR6C76	390326	genome.wustl.edu	37	chr12	55820800	55820800	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatggaagctgcatcttcAtgtatgtgaaaacatcagca	13	12	8	8	0	3	1	2	1	1	0	3	2	3	2	0	1	4	4	0	1	5	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:55820800A>G	ENST00000328314.3	+	1	763	c.763A>G	c.(763-765)Atg>Gtg	p.M255V		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	255						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						CTGCATCTTCATGTATGTGAA	0.403																																							0											0													110	98	102					12																	55820800		2203	4300	6503	SO:0001583	missense	0				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.763A>G	12.37:g.55820800A>G	ENSP00000328402:p.Met255Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M255V	ENST00000328314.3	37	c.763	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	a	9.642	1.139297	0.21205	.	.	ENSG00000185821	ENST00000328314	T	0.00137	8.68	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.222832	0.31020	U	0.008405	T	0.00144	0.0004	L	0.52266	1.64	0.24556	N	0.993997	B	0.20164	0.042	B	0.26094	0.066	T	0.37314	-0.9711	10	0.54805	T	0.06	.	3.4897	0.07633	0.5717:0.0:0.0999:0.3284	.	255	A6NM76	O6C76_HUMAN	V	255	ENSP00000328402:M255V	ENSP00000328402:M255V	M	+	1	0	OR6C76	54107067	0.000000	0.05858	0.992000	0.48379	0.942000	0.58702	-0.184000	0.09698	1.815000	0.52974	0.434000	0.28630	ATG	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	protein_coding	OTTHUMT00000406675.1	61	151	0	0.00	0	0	A	NM_001005183	0	0		55820800	1	no_errors	ENST00000328314	ensembl	human	known	74_37	missense	35	164	18.6	27.75	8	63	SNP	0.997	G	G	55820800	A	G	55820800	3	3	97	1	0	0	0	0	1	0	0	0	11200	217	8	3	765	3	OR6C76	12	55820800	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	105664	55820800	78031095	465	1664											
MMP19	4327	genome.wustl.edu	37	chr12	56230905	56230905	+	Frame_Shift_Del	DEL	G	G	-																															gagtggtattcccacctgatGgggtagtgtctatagtccgg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:56230905delG	ENST00000322569.4	-	9	1533	c.1442delC	c.(1441-1443)ccafs	p.P481fs	MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000394182.1_Frame_Shift_Del_p.P195fs|MMP19_ENST00000548629.1_Frame_Shift_Del_p.P458fs|TMEM198B_ENST00000478241.1_RNA	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	481					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)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CCCACCTGATGGGGTAGTGTC	0.517																																							0											0													250	248	249					12																	56230905		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1442delC	12.37:g.56230905delG	ENSP00000313437:p.Pro481fs		B4E030|O15278|O95606|Q99580	Frame_Shift_Del	DEL	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.P481fs	ENST00000322569.4	37	c.1442	CCDS8895.1	12																																																																																			0	NULL		0.517	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	protein_coding	OTTHUMT00000408023.1	40	239	0	0.00	0	0	G	NM_002429	0	0		56230905	-1	no_errors	ENST00000322569	ensembl	human	known	74_37	frame_shift_del	31	160	24.39	37.50	10	96	DEL	0	0	-	56230905	G	-	56230905	7	5	97	1	0	1	0	1	0	0	0	0	9657	1348	47	0	88	0	MMP19	12	56230905	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	410105	56230905	77620990	466	1665											
INHBC	3626	genome.wustl.edu	37	chr12	57828744	57828744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccagagctggcggtcaGtgtccagcatgtggggggcc	6	7	16	12	1	1	1	1	0	0	1	3	1	3	1	3	5	2	2	3	5	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:57828744G>A	ENST00000309668.2	+	1	202	c.75G>A	c.(73-75)caG>caA	p.Q25Q	RP11-756H6.1_ENST00000547552.1_lincRNA	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	25					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						CTGGCGGTCAGTGTCCAGCAT	0.597																																							0											0													40	39	40					12																	57828744		2203	4300	6503	SO:0001819	synonymous_variant	0				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.75G>A	12.37:g.57828744G>A			A1L3Y2	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC	p.Q25	ENST00000309668.2	37	c.75	CCDS8938.1	12																																																																																			0	prints_Inhibin_betaC		0.597	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBC	protein_coding	OTTHUMT00000406770.1	25	75	0	0.00	0	0	G	NM_005538	0	0		57828744	1	no_errors	ENST00000309668	ensembl	human	known	74_37	silent	16	87	30.43	19.44	7	21	SNP	0.902	A	A	57828744	G	A	57828744	2	1	97	1	0	0	0	0	0	0	0	1	7743	1020	36	3		3	INHBC	12	57828744	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1597839	57828744	76023151	467	1666											
GRIP1	23426	genome.wustl.edu	37	chr12	66786159	66786159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtccacactgggcaccGtggaggggtacatgtcggag	8	7	15	11	2	0	0	0	0	0	0	2	2	1	2	2	5	1	2	2	5	1	1	rs200363939		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:66786159G>A	ENST00000398016.3	-	18	2305	c.2237C>T	c.(2236-2238)aCg>aTg	p.T746M	GRIP1_ENST00000359742.4_Missense_Mutation_p.T798M|GRIP1_ENST00000286445.7_Missense_Mutation_p.T798M|GRIP1_ENST00000542021.1_5'Flank	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)		ACTGGGCACCGTGGAGGGGTA	0.537													G|||	1	0.000199681	0	0	5008	,	,		17886	0		0.001	False		,,,				2504	0						0.9998,0.0001997											0								G	MET/THR,MET/THR	0,4088		0,0,2044	133	136	135		2237,2237	4.8	0.2	12		135	4,8366		0,4,4181	yes	missense,missense	GRIP1	NM_001178074.1,NM_021150.3	81,81	0,4,6225	AA,AG,GG		0.0478,0.0,0.0321	probably-damaging,probably-damaging	746/1062,746/1077	66786159	4,12454	2044	4185	6229	SO:0001583	missense	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2237C>T	12.37:g.66786159G>A	ENSP00000381098:p.Thr746Met		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T798M	ENST00000398016.3	37	c.2393	CCDS41807.1	12	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	16.26|16.26	3.071815|3.071815	0.55646|0.55646	0.0|0.0	4.78E-4|4.78E-4	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.80393	.|-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.408618	.|0.30639	.|N	.|0.009181	D|D	0.88503|0.88503	0.6454|0.6454	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D;D;D	.|0.89917	.|1.0;0.981;0.989;0.999	.|D;P;P;D	.|0.66847	.|0.947;0.66;0.888;0.941	D|D	0.87882|0.87882	0.2678|0.2678	5|9	.|.	.|.	.|.	-1.1645|-1.1645	18.4992|18.4992	0.90875|0.90875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|746;798;746;798	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	W|M	613|746;798;798;746;690;638	.|ENSP00000381098:T746M;ENSP00000352780:T798M;ENSP00000286445:T798M;ENSP00000446047:T746M;ENSP00000446024:T690M;ENSP00000446011:T638M	.|.	R|T	-|-	1|2	2|0	GRIP1|GRIP1	65072426|65072426	1.000000|1.000000	0.71417|0.71417	0.237000|0.237000	0.24090|0.24090	0.191000|0.191000	0.23601|0.23601	9.633000|9.633000	0.98432|0.98432	2.691000|2.691000	0.91804|0.91804	0.561000|0.561000	0.74099|0.74099	CGG|ACG	0	NULL		0.537	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	protein_coding	OTTHUMT00000401975.2	29	139	0	0.00	0	0	G		rs200363939	G->A		66786159	-1	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	36	123	16.28	18.54	7	28	SNP	0.986	A	A	66786159	G	A	66786159	3	1	97	1	0	0	0	0	1	0	0	0	6787	1145	40	1	1021	1	GRIP1	12	66786159	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	8957415	66786159	67065736	468	1667											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85449668	85449668	+	Frame_Shift_Del	DEL	A	A	-																															gagagaaaaagaatatgaagAaaaaaagaatattgtgaaac																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:85449668delA	ENST00000393217.2	+	8	1158	c.1097delA	c.(1096-1098)gaafs	p.E366fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	366	Glu-rich.									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)		gaatatgaagaaaaaaagaAT	0.313																																							0											0													24	27	26					12																	85449668		2191	4274	6465	SO:0001589	frameshift_variant	0			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.1097delA	12.37:g.85449668delA	ENSP00000376910:p.Glu366fs		Q567P4|Q9BS17|Q9HA36	Frame_Shift_Del	DEL	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.K368fs	ENST00000393217.2	37	c.1097	CCDS41816.1	12																																																																																			0	NULL		0.313	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	protein_coding	OTTHUMT00000388249.2	131	107	0	0.00	0	0	A	NM_032165	0	0		85449668	1	no_errors	ENST00000393217	ensembl	human	known	74_37	frame_shift_del	66	95	34	25.78	34	33	DEL	0.92	0	-	85449668	A	-	85449668	7	5	97	1	0	1	0	1	0	0	0	0	9029	246	9	0	1123	0	LRRIQ1	12	85449668	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	18663509	85449668	48402227	469	1668											
DCN	1634	genome.wustl.edu	37	chr12	91550887	91550887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatattggtatcagcaatgCggatgtaggagagcttcttc	10	13	12	6	1	2	2	1	1	1	1	3	4	2	3	0	3	3	4	0	3	4	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:91550887C>T	ENST00000052754.5	-	5	1118	c.617G>A	c.(616-618)cGc>cAc	p.R206H	DCN_ENST00000552962.1_Missense_Mutation_p.R206H|DCN_ENST00000441303.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.R97H|DCN_ENST00000228329.5_Missense_Mutation_p.R97H|DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.R206H|DCN_ENST00000425043.1_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	206					aging (GO:0007568)|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)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATCAGCAATGCGGATGTAGGA	0.373																																							0											0													135	129	131					12																	91550887		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.617G>A	12.37:g.91550887C>T	ENSP00000052754:p.Arg206His		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	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.R206H	ENST00000052754.5	37	c.617	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932566	0.92458	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.57595	0.39;3.62;0.39;0.39;3.62	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.75057	0.3798	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.75728	-0.3216	10	0.54805	T	0.06	.	19.7971	0.96490	0.0:1.0:0.0:0.0	.	206;97	P07585;P07585-2	PGS2_HUMAN;.	H	206;97;206;206;97	ENSP00000052754:R206H;ENSP00000228329:R97H;ENSP00000376862:R206H;ENSP00000447654:R206H;ENSP00000413723:R97H	ENSP00000052754:R206H	R	-	2	0	DCN	90075018	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.484000	0.81180	2.666000	0.90696	0.585000	0.79938	CGC	0	pirsf_SLRP_I_decor/aspor/byglycan		0.373	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	protein_coding	OTTHUMT00000406799.3	49	196	2	0.00	1	0	C	NM_133507	0	0		91550887	-1	no_errors	ENST00000052754	ensembl	human	known	74_37	missense	24	158	36.84	28.38	14	63	SNP	1	T	T	91550887	C	T	91550887	3	4	97	1	0	0	0	0	1	0	0	0	4297	768	27	1	478	1	DCN	12	91550887	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	6101219	91550887	42301008	470	1669											
C12orf74	338809	genome.wustl.edu	37	chr12	93100478	93100478	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctcctcggccctcgcTgaggagcctgccaaagaacc	8	6	10	17	2	1	2	0	1	1	1	4	3	1	3	6	2	4	1	6	2	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:93100478T>G	ENST00000397833.3	+	2	522	c.71T>G	c.(70-72)cTg>cGg	p.L24R	C12orf74_ENST00000544406.2_Missense_Mutation_p.L24R	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	24										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CGGCCCTCGCTGAGGAGCCTG	0.567																																							0											0													32	35	34					12																	93100478		1909	4120	6029	SO:0001583	missense	0			BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.71T>G	12.37:g.93100478T>G	ENSP00000380933:p.Leu24Arg		F5H4P0	Missense_Mutation	SNP	NULL	p.L24R	ENST00000397833.3	37	c.71	CCDS41819.1	12	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702034	0.48307	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.87	-9.73	0.00512	.	.	.	.	.	T	0.15046	0.0363	N	0.24115	0.695	0.09310	N	1	B;B	0.28208	0.203;0.203	B;B	0.24006	0.05;0.05	T	0.09684	-1.0663	8	0.25751	T	0.34	.	3.0352	0.06119	0.1929:0.2866:0.3903:0.1303	.	24;24	F5H4P0;Q32Q52	.;CL074_HUMAN	R	24	.	ENSP00000380933:L24R	L	+	2	0	C12orf74	91624609	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.816000	0.00752	-2.053000	0.00901	-0.379000	0.06801	CTG	0	NULL		0.567	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C12orf74	protein_coding	OTTHUMT00000407285.1	48	99	0	0.00	0	0	T	NM_001037671	0	0		93100478	1	no_errors	ENST00000397833	ensembl	human	known	74_37	missense	46	105	13.21	25.00	7	35	SNP	0	G	G	93100478	T	G	93100478	3	3	97	1	0	0	0	0	1	0	0	0	1714	1580	55	5	73	5	C12orf74	12	93100478	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	1549591	93100478	40751417	471	1670											
LTA4H	4048	genome.wustl.edu	37	chr12	96394809	96394809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagcattgcagtcacGggatgcatgcttgctttgtg	7	11	11	12	1	1	0	1	0	0	0	1	1	1	1	2	1	5	5	2	1	0	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:96394809G>A	ENST00000228740.2	-	19	1935	c.1794C>T	c.(1792-1794)ccC>ccT	p.P598P	RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000413268.2_3'UTR|LTA4H_ENST00000552789.1_Silent_p.P574P	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	598					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P598P(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TTGCAGTCACGGGATGCATGC	0.393																																							0											1	Substitution - coding silent(1)	lung(1)											138	127	131					12																	96394809		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1794C>T	12.37:g.96394809G>A			B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Silent	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N,tigrfam_Leukotriene_A4_hydrolase	p.P598	ENST00000228740.2	37	c.1794	CCDS9059.1	12																																																																																			0	pfam_Peptidase_M1_C,superfamily_ARM-type_fold,tigrfam_Leukotriene_A4_hydrolase		0.393	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA4H	protein_coding	OTTHUMT00000408655.1	108	200	0	0.00	0	0	G	NM_000895	0	0		96394809	-1	no_errors	ENST00000228740	ensembl	human	known	74_37	silent	65	173	20.73	34.96	17	93	SNP	0.005	A	A	96394809	G	A	96394809	2	1	97	1	0	0	0	0	0	0	0	1	9069	1103	39	2		2	LTA4H	12	96394809	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3294331	96394809	37457086	472	1671											
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100441791	100441791	+	Frame_Shift_Del	DEL	A	A	-																															ttgcaacagtttcatcttccAaaaaatgttgaatattcata																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:100441791delA	ENST00000279907.7	-	18	4114	c.3902delT	c.(3901-3903)ttgfs	p.L1301fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Del_p.L951fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1301										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						TTCATCTTCCAAAAAATGTTG	0.284																																							0											0													28	29	29					12																	100441791		2202	4300	6502	SO:0001589	frameshift_variant	0				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.3902delT	12.37:g.100441791delA	ENSP00000279907:p.Leu1301fs		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Del	DEL	NULL	p.L1301fs	ENST00000279907.7	37	c.3902	CCDS31882.1	12																																																																																			0	NULL		0.284	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	protein_coding	OTTHUMT00000407875.1	96	226	0	0.00	0	0	A	NM_001006947	0	0		100441791	-1	no_errors	ENST00000279907	ensembl	human	known	74_37	frame_shift_del	70	169	21.35	27.78	19	65	DEL	1	0	-	100441791	A	-	100441791	7	5	97	1	0	1	0	1	0	0	0	0	16966	131	5	0	508	0	UHRF1BP1L	12	100441791	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	4046982	100441791	33410104	473	1672											
PRDM4	11108	genome.wustl.edu	37	chr12	108145770	108145770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccaaggccacctcatggCcatcactgggatgaagactt	10	9	10	12	0	2	2	2	1	0	1	3	3	3	3	4	3	0	0	4	3	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:108145770C>T	ENST00000228437.5	-	5	1007	c.548G>A	c.(547-549)gGc>gAc	p.G183D	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	183					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CACCTCATGGCCATCACTGGG	0.478																																							0											0													147	130	136					12																	108145770		2203	4300	6503	SO:0001583	missense	0			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.548G>A	12.37:g.108145770C>T	ENSP00000228437:p.Gly183Asp		Q9UFA6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2	p.G183D	ENST00000228437.5	37	c.548	CCDS9115.1	12	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559901	0.45590	.	.	ENSG00000110851	ENST00000228437	D	0.82526	-1.62	5.66	3.77	0.43336	.	0.481313	0.24620	N	0.036971	T	0.69886	0.3161	N	0.14661	0.345	0.40538	D	0.98099	B	0.02656	0.0	B	0.04013	0.001	T	0.68606	-0.5364	10	0.87932	D	0	.	11.5784	0.50877	0.0:0.8078:0.1246:0.0677	.	183	Q9UKN5	PRDM4_HUMAN	D	183	ENSP00000228437:G183D	ENSP00000228437:G183D	G	-	2	0	PRDM4	106669900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.308000	0.43690	1.387000	0.46486	0.655000	0.94253	GGC	0	pirsf_Znf_PRDM4		0.478	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM4	protein_coding	OTTHUMT00000406546.1	67	236	0	0.00	0	0	C	NM_012406	0	0		108145770	-1	no_errors	ENST00000228437	ensembl	human	known	74_37	missense	46	186	28.12	29.28	18	77	SNP	1	T	T	108145770	C	T	108145770	3	4	97	1	0	0	0	0	1	0	0	0	12459	739	26	3	1889	3	PRDM4	12	108145770	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7703979	108145770	25706125	474	1673											
TCHP	84260	genome.wustl.edu	37	chr12	110353318	110353318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctgcagcaggaggcGgagactatggctgagcaggg	8	5	18	10	1	0	2	0	1	0	1	0	4	0	3	1	5	4	5	1	5	1	1	rs368260508		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:110353318G>A	ENST00000312777.5	+	12	1645	c.1431G>A	c.(1429-1431)gcG>gcA	p.A477A	TCHP_ENST00000405876.4_Silent_p.A477A	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AGCAGGAGGCGGAGACTATGG	0.657																																							0											0								G	,	0,4406		0,0,2203	31	30	30		1431,1431	-11.7	0	12		30	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TCHP	NM_001143852.1,NM_032300.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	477/499,477/499	110353318	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"mitostatin"	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1431G>A	12.37:g.110353318G>A				Silent	SNP	NULL	p.A477	ENST00000312777.5	37	c.1431	CCDS9137.1	12																																																																																			0	NULL		0.657	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	protein_coding	OTTHUMT00000403289.1	61	40	0	0.00	0	0	G	NM_032300	rs368260508	G->A		110353318	1	no_errors	ENST00000312777	ensembl	human	known	74_37	silent	27	32	25	38.46	9	20	SNP	0	A	A	110353318	G	A	110353318	2	1	97	1	0	0	0	0	0	0	0	1	15699	1103	39	2		2	TCHP	12	110353318	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2207548	110353318	23498577	475	1674											
CCDC63	160762	genome.wustl.edu	37	chr12	111291293	111291293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggcggaggcagagctcCggaagctaaggcagcagttc	11	4	16	10	2	0	1	0	0	0	1	2	3	1	3	1	5	4	7	1	5	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:111291293C>T	ENST00000308208.5	+	3	336	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	CCDC63_ENST00000545036.1_5'UTR|CCDC63_ENST00000552694.1_Intron|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	32										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						GGCAGAGCTCCGGAAGCTAAG	0.527																																							0											0													68	69	69					12																	111291293		2203	4300	6503	SO:0001583	missense	0			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.94C>T	12.37:g.111291293C>T	ENSP00000312399:p.Arg32Trp		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.R32W	ENST00000308208.5	37	c.94	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092621	0.56075	.	.	ENSG00000173093	ENST00000308208	T	0.32272	1.46	5.33	2.24	0.28232	.	0.690014	0.14082	N	0.342643	T	0.47266	0.1436	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.19844	-1.0293	10	0.38643	T	0.18	.	5.5734	0.17210	0.3509:0.5564:0.0:0.0926	.	32	Q8NA47	CCD63_HUMAN	W	32	ENSP00000312399:R32W	ENSP00000312399:R32W	R	+	1	2	CCDC63	109775676	0.010000	0.17322	0.041000	0.18516	0.922000	0.55478	0.275000	0.18698	0.710000	0.31997	0.561000	0.74099	CGG	0	NULL		0.527	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	protein_coding	OTTHUMT00000404673.2	69	137	0	0.00	0	0	C	NM_152591	0	0		111291293	1	no_errors	ENST00000308208	ensembl	human	known	74_37	missense	38	116	42.42	28.40	28	46	SNP	0.008	T	T	111291293	C	T	111291293	3	4	97	1	0	0	0	0	1	0	0	0	2834	643	23	2	100	2	CCDC63	12	111291293	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	937975	111291293	22560602	476	1675											
NAA25	80018	genome.wustl.edu	37	chr12	112479884	112479884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttaaaactattttctattCgttcctgaatctccattgta	11	18	3	9	1	2	1	0	1	2	0	5	1	3	1	2	0	1	2	2	0	6	9			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:112479884C>T	ENST00000261745.4	-	20	2647	c.2399G>A	c.(2398-2400)cGa>cAa	p.R800Q		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	800						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						ATTTTCTATTCGTTCCTGAAT	0.299																																							0											0													74	69	71					12																	112479884		2192	4294	6486	SO:0001583	missense	0			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.2399G>A	12.37:g.112479884C>T	ENSP00000261745:p.Arg800Gln		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.R800Q	ENST00000261745.4	37	c.2399	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571399	0.45798	.	.	ENSG00000111300	ENST00000261745;ENST00000550701	T	0.22945	1.93	5.9	5.9	0.94986	.	0.120505	0.56097	D	0.000030	T	0.13798	0.0334	N	0.12746	0.255	0.30026	N	0.813897	B	0.18166	0.026	B	0.04013	0.001	T	0.12400	-1.0549	10	0.13108	T	0.6	-7.3169	12.5473	0.56208	0.0:0.9245:0.0:0.0755	.	800	Q14CX7	NAA25_HUMAN	Q	800;6	ENSP00000261745:R800Q	ENSP00000261745:R800Q	R	-	2	0	NAA25	110964267	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	3.092000	0.50207	2.791000	0.96007	0.655000	0.94253	CGA	0	NULL		0.299	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	protein_coding	OTTHUMT00000405205.1	67	289	0	0.00	0	0	C	NM_024953	0	0		112479884	-1	no_errors	ENST00000261745	ensembl	human	known	74_37	missense	30	249	31.82	26.76	14	91	SNP	0.999	T	T	112479884	C	T	112479884	3	4	97	1	0	0	0	0	1	0	0	0	10121	884	31	2	539	2	NAA25	12	112479884	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1188591	112479884	21372011	477	1676											
C12orf51	283450	genome.wustl.edu	37	chr12	112750858	112750858	+	5'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagtgttgctatccggCgcaggcaacatgtcttcata	9	10	11	11	2	2	0	1	0	1	0	3	1	3	0	2	2	3	4	2	2	3	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:112750858C>T	ENST00000430131.2	-	0	842				HECTD4_ENST00000550722.1_Silent_p.A149A|HECTD4_ENST00000377560.5_Silent_p.A149A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						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)										TGCTATCCGGCGCAGGCAACA	0.428																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			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.-304G>A	12.37:g.112750858C>T			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.A149	ENST00000430131.2	37	c.447		12																																																																																			0	NULL		0.428	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		40	146	0	0.00	0	0	C	NM_173813	0	0		112750858	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	21	129	27.59	25.00	8	43	SNP	0.032	T	T	112750858	C	T	112750858	1	4	97	0	1	0	0	0	0	0	0	0	1696	755	27	1		1	C12orf51	12	112750858	5'UTR	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	270974	112750858	21101037	478	1677											
WSB2	55884	genome.wustl.edu	37	chr12	118480647	118480647	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccttcacttcccataccGtgtttattcaggtcccagat	7	15	6	13	1	2	1	2	0	0	1	5	1	5	1	4	1	1	2	4	1	2	7			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:118480647G>A	ENST00000315436.3	-	4	699	c.558C>T	c.(556-558)caC>caT	p.H186H	WSB2_ENST00000441406.2_Splice_Site_p.H203H|WSB2_ENST00000542304.1_De_novo_Start_InFrame|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Splice_Site_p.H188H	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	186					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCCATACCGTGTTTATTCA	0.433																																							0											0													151	152	151					12																	118480647		2203	4300	6503	SO:0001630	splice_region_variant	0			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.559+1C>T	12.37:g.118480647G>A			B4DIE6|B4DPV6|Q9NRX9	Silent	SNP	pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H186	ENST00000315436.3	37	c.558	CCDS9186.1	12																																																																																			0	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.433	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSB2	protein_coding	OTTHUMT00000401515.1	59	260	0	0.38	0	1	G	NM_018639	0	0	Silent	118480647	-1	no_errors	ENST00000315436	ensembl	human	known	74_37	silent	39	205	40.91	28.97	27	84	SNP	0.952	A	A	118480647	G	A	118480647	5	1	97	1	0	0	0	0	0	0	1	0	17402	1159	40	1	680	1	WSB2	12	118480647	Splice_Site	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	5729789	118480647	15371248	479	1678											
RAB35	11021	genome.wustl.edu	37	chr12	120536641	120536641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttgacattctccttggCgctggtctcgaacaactgga	8	11	10	12	3	2	1	0	1	2	0	4	3	2	2	1	3	2	2	1	3	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:120536641C>T	ENST00000229340.5	-	5	639	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Intron|RAB35_ENST00000432953.2_Intron	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	151					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A151T(1)		endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		TTCTCCTTGGCGCTGGTCTCG	0.597																																							0											1	Substitution - Missense(1)	endometrium(1)											92	98	96					12																	120536641		2092	4217	6309	SO:0001583	missense	0			X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"RAB, member RAS oncogene"	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.451G>A	12.37:g.120536641C>T	ENSP00000229340:p.Ala151Thr		B2R6E0|B4E390	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.A151T	ENST00000229340.5	37	c.451	CCDS41846.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.303990	0.95601	.	.	ENSG00000111737	ENST00000229340;ENST00000538903	D;D	0.88741	-2.42;-2.42	5.3	4.39	0.52855	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.97286	0.9921	10	0.87932	D	0	.	15.8617	0.79026	0.0:0.8638:0.1362:0.0	.	151	Q15286	RAB35_HUMAN	T	151;135	ENSP00000229340:A151T;ENSP00000443994:A135T	ENSP00000229340:A151T	A	-	1	0	RAB35	119021024	1.000000	0.71417	0.985000	0.45067	0.947000	0.59692	7.544000	0.82117	1.188000	0.43014	0.655000	0.94253	GCC	0	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,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		0.597	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB35	protein_coding	OTTHUMT00000402599.2	23	111	0	0.00	0	0	C		0	0		120536641	-1	no_errors	ENST00000229340	ensembl	human	known	74_37	missense	14	87	30	28.10	6	34	SNP	1	T	T	120536641	C	T	120536641	3	4	97	1	0	0	0	0	1	0	0	0	12925	768	27	1	162	1	RAB35	12	120536641	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2055994	120536641	13315254	480	1679											
ORAI1	84876	genome.wustl.edu	37	chr12	122079267	122079267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaagcagccaggccaGccaaggcccaccagcaagcc	13	1	10	17	0	1	1	1	0	0	1	1	1	1	1	6	2	5	2	6	2	4	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:122079267G>A	ENST00000330079.7	+	2	823	c.630G>A	c.(628-630)caG>caA	p.Q210Q		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	208					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		AGCCAGGCCAGCCAAGGCCCA	0.672																																							0											0													32	43	39					12																	122079267		2200	4299	6499	SO:0001819	synonymous_variant	0			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"ORAI calcium release-activated calcium modulators"	25896	protein-coding gene	gene with protein product	"calcium release-activated calcium modulator 1"	610277	"transmembrane protein 142A"	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.630G>A	12.37:g.122079267G>A			Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Silent	SNP	pfam_CRAC_channel	p.Q210	ENST00000330079.7	37	c.630	CCDS41851.1	12																																																																																			0	pfam_CRAC_channel		0.672	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI1	protein_coding	OTTHUMT00000402151.1	57	68	0	0.00	0	0	G	NM_032790	0	0		122079267	1	no_errors	ENST00000330079	ensembl	human	known	74_37	silent	20	45	16.67	25.00	4	15	SNP	0.677	A	A	122079267	G	A	122079267	2	1	97	1	0	0	0	0	0	0	0	1	11257	962	34	3		3	ORAI1	12	122079267	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1542626	122079267	11772628	481	1680											
TCTN2	79867	genome.wustl.edu	37	chr12	124189166	124189166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctcacctgagcatccGcatcctcatctcggatgctg	6	11	8	16	2	3	1	2	1	1	0	7	2	6	2	4	1	3	4	4	1	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:124189166G>A	ENST00000303372.5	+	15	1828	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H	RP11-338K17.8_ENST00000538837.1_lincRNA|TCTN2_ENST00000426174.2_Missense_Mutation_p.R566H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	567					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)		CTGAGCATCCGCATCCTCATC	0.522																																							0											0													82	65	70					12																	124189166		2203	4300	6503	SO:0001583	missense	0			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.1700G>A	12.37:g.124189166G>A	ENSP00000304941:p.Arg567His		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	pfam_DUF1619	p.R567H	ENST00000303372.5	37	c.1700	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853248	0.32699	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.82984	-1.67;-1.67	5.7	4.81	0.61882	.	0.125468	0.56097	D	0.000035	T	0.75117	0.3806	M	0.63428	1.95	0.37849	D	0.929329	P;P	0.41366	0.747;0.747	B;B	0.27608	0.081;0.081	T	0.77998	-0.2376	10	0.41790	T	0.15	-21.5599	10.4535	0.44537	0.1491:0.0:0.8509:0.0	.	566;567	A8K7Y8;Q96GX1	.;TECT2_HUMAN	H	566;567	ENSP00000395171:R566H;ENSP00000304941:R567H	ENSP00000304941:R567H	R	+	2	0	TCTN2	122755119	0.997000	0.39634	1.000000	0.80357	0.376000	0.30014	0.877000	0.28106	1.556000	0.49512	0.650000	0.86243	CGC	0	NULL		0.522	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	protein_coding	OTTHUMT00000400652.1	49	54	0	0.00	0	0	G	NM_024809	0	0		124189166	1	no_errors	ENST00000303372	ensembl	human	known	74_37	missense	34	65	24.44	22.62	11	19	SNP	0.994	A	A	124189166	G	A	124189166	3	1	97	1	0	0	0	0	1	0	0	0	15720	1087	38	1	1758	1	TCTN2	12	124189166	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2109899	124189166	9662729	482	1681											
DHX37	57647	genome.wustl.edu	37	chr12	125465190	125465190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggcggcagaggtgccacgGtggtccccacaccagcctca	7	5	13	16	2	1	1	1	0	0	1	2	1	2	1	5	5	2	1	5	5	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:125465190G>A	ENST00000308736.2	-	4	682	c.584C>T	c.(583-585)aCc>aTc	p.T195I	DHX37_ENST00000544745.1_5'UTR	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	195							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)		AGGTGCCACGGTGGTCCCCAC	0.687																																							0											0													37	37	37					12																	125465190		2200	4297	6497	SO:0001583	missense	0			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.584C>T	12.37:g.125465190G>A	ENSP00000311135:p.Thr195Ile		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.T195I	ENST00000308736.2	37	c.584	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347160	0.41599	.	.	ENSG00000150990	ENST00000308736	T	0.09911	2.93	4.98	-6.06	0.02165	.	2.517180	0.01378	N	0.012818	T	0.05686	0.0149	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.30909	-0.9962	10	0.37606	T	0.19	-0.9937	0.7079	0.00919	0.2996:0.1037:0.2768:0.3199	.	195	Q8IY37	DHX37_HUMAN	I	195	ENSP00000311135:T195I	ENSP00000311135:T195I	T	-	2	0	DHX37	124031143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.112000	0.03299	-0.772000	0.04602	0.650000	0.86243	ACC	0	NULL		0.687	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	protein_coding		66	35	0	0.00	0	0	G	NM_032656	0	0		125465190	-1	no_errors	ENST00000308736	ensembl	human	known	74_37	missense	36	27	30.77	35.71	16	15	SNP	0	A	A	125465190	G	A	125465190	3	1	97	1	0	0	0	0	1	0	0	0	4510	1261	44	3	2985	3	DHX37	12	125465190	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1276024	125465190	8386705	483	1682											
EP400	57634	genome.wustl.edu	37	chr12	132445390	132445390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaacgtgaacatcaccCtgcagagcgtgggccctgtc	9	6	13	13	2	1	3	1	1	0	2	2	3	1	3	2	2	4	2	2	2	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:132445390C>A	ENST00000333577.4	+	2	335	c.226C>A	c.(226-228)Ctg>Atg	p.L76M	EP400_ENST00000389561.2_Missense_Mutation_p.L76M|EP400_ENST00000330386.6_Missense_Mutation_p.L76M|EP400_ENST00000389562.2_Missense_Mutation_p.L76M|EP400_ENST00000332482.4_Missense_Mutation_p.L76M			Q96L91	EP400_HUMAN	E1A binding protein p400	76					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)		GAACATCACCCTGCAGAGCGT	0.627																																							0											0													59	61	60					12																	132445390		2203	4300	6503	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.226C>A	12.37:g.132445390C>A	ENSP00000333602:p.Leu76Met		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.L76M	ENST00000333577.4	37	c.226		12	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525357	0.27299	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.96200	-3.69;-3.89;-3.9;-3.94;-3.88	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	D	0.97414	0.9154	M	0.78637	2.42	0.30748	N	0.745453	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	0.95805	0.8836	10	0.87932	D	0	.	14.0238	0.64573	0.0:0.9277:0.0:0.0722	.	76;76;76;76;76	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	M	76	ENSP00000333602:L76M;ENSP00000374212:L76M;ENSP00000374213:L76M;ENSP00000331737:L76M;ENSP00000330620:L76M	ENSP00000330620:L76M	L	+	1	2	EP400	131011343	0.994000	0.37717	1.000000	0.80357	0.977000	0.68977	2.945000	0.49043	2.692000	0.91855	0.563000	0.77884	CTG	0	NULL		0.627	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		99	77	0	0.00	0	0	C	NM_015409	0	0		132445390	1	no_errors	ENST00000333577	ensembl	human	known	74_37	missense	51	47	30.14	33.80	22	24	SNP	0.994	A	A	132445390	C	A	132445390	3	1	97	1	0	0	0	0	1	0	0	0	5149	680	24	5	228	5	EP400	12	132445390	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	6980200	132445390	1406505	484	1683											
DDX51	317781	genome.wustl.edu	37	chr12	132624232	132624232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtaccgaggaaccagcGgctgcagcagcttgctggag	8	6	14	13	3	0	0	0	0	0	0	1	3	0	2	3	3	7	6	3	3	2	2	rs201039066	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:132624232G>A	ENST00000397333.3	-	14	1960	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	641					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)		AGGAACCAGCGGCTGCAGCAG	0.612													G|||	2	0.000399361	8e-04	0	5008	,	,		17547	0		0	False		,,,				2504	0.001						0.9996,0.0003994											0								G	LEU/PRO	1,4005		0,1,2002	41	47	45		1922	3.7	1	12		45	0,8314		0,0,4157	yes	missense	DDX51	NM_175066.3	98	0,1,6159	AA,AG,GG		0.0,0.025,0.0081	benign	641/667	132624232	1,12319	2003	4157	6160	SO:0001583	missense	0			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.1922C>T	12.37:g.132624232G>A	ENSP00000380495:p.Pro641Leu		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.P641L	ENST00000397333.3	37	c.1922	CCDS41865.1	12	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.219	0.408573	0.11812	2.5E-4	0.0	ENSG00000185163	ENST00000397333	T	0.01981	4.52	4.59	3.7	0.42460	.	0.487933	0.22929	N	0.053931	T	0.03178	0.0093	M	0.69823	2.125	0.25224	N	0.989885	B	0.31893	0.345	B	0.28465	0.09	T	0.36432	-0.9748	10	0.37606	T	0.19	-24.2995	5.7866	0.18336	0.1006:0.0:0.7085:0.1909	.	641	Q8N8A6	DDX51_HUMAN	L	641	ENSP00000380495:P641L	ENSP00000380495:P641L	P	-	2	0	DDX51	131190185	0.999000	0.42202	0.956000	0.39512	0.015000	0.08874	3.208000	0.51114	0.918000	0.36919	0.563000	0.77884	CCG	0	NULL		0.612	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	protein_coding	OTTHUMT00000398978.1	23	57	0	0.00	0	0	G	NM_175066	rs201039066	G->A		132624232	-1	no_errors	ENST00000397333	ensembl	human	known	74_37	missense	8	49	55.56	33.78	10	25	SNP	0.213	A	A	132624232	G	A	132624232	3	1	97	1	0	0	0	0	1	0	0	0	4369	1116	39	2	86	2	DDX51	12	132624232	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	178842	132624232	1227663	485	1684											
MPHOSPH8	54737	genome.wustl.edu	37	chr13	20222608	20222608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaaaatatcagaaaaGgcatgattctgacaaggaag	21	6	9	5	0	2	4	1	2	1	2	2	5	2	5	0	2	0	1	0	2	8	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:20222608G>A	ENST00000361479.5	+	4	1333	c.1265G>A	c.(1264-1266)aGg>aAg	p.R422K	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R422K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	422					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)		TATCAGAAAAGGCATGATTCT	0.318																																							0											0													59	56	57					13																	20222608		2203	4299	6502	SO:0001583	missense	0			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.1265G>A	13.37:g.20222608G>A	ENSP00000355388:p.Arg422Lys		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.R422K	ENST00000361479.5	37	c.1265	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	0.293	-0.978584	0.02197	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.33654	1.4;1.42	4.78	0.934	0.19477	.	0.714844	0.13327	N	0.396260	T	0.19406	0.0466	N	0.26042	0.785	0.20638	N	0.999872	B;B;B	0.14012	0.009;0.001;0.009	B;B;B	0.14023	0.01;0.001;0.006	T	0.32079	-0.9920	10	0.06494	T	0.89	.	7.4304	0.27124	0.5796:0.0:0.4203:0.0	.	422;422;422	F5H8H9;Q99549;Q99549-2	.;MPP8_HUMAN;.	K	422	ENSP00000414663:R422K;ENSP00000355388:R422K	ENSP00000355388:R422K	R	+	2	0	MPHOSPH8	19120608	0.866000	0.29940	0.444000	0.26895	0.075000	0.17131	0.067000	0.14510	0.158000	0.19367	-0.145000	0.13849	AGG	0	NULL		0.318	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	protein_coding	OTTHUMT00000044028.2	43	225	0	0.44	0	1	G	NM_017520	0	0		20222608	1	no_errors	ENST00000414242	ensembl	human	known	74_37	missense	14	166	33.33	29.36	7	69	SNP	0.529	A	A	20222608	G	A	20222608	3	1	97	1	0	0	0	0	1	0	0	0	9727	1000	35	3	1279	3	MPHOSPH8	13	20222608	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09		20222608	94947270	486	1685											
PARP4	143	genome.wustl.edu	37	chr13	25008754	25008754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaggacatcgacttccttCgagactgcctactgattctt	9	12	8	12	2	1	2	0	1	1	1	4	6	2	3	2	1	2	0	2	1	1	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:25008754C>T	ENST00000381989.3	-	31	4630	c.4525G>A	c.(4525-4527)Gaa>Aaa	p.E1509K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1509					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)			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)		CGACTTCCTTCGAGACTGCCT	0.448																																							0											0													73	75	74					13																	25008754		2203	4300	6503	SO:0001583	missense	0			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.4525G>A	13.37:g.25008754C>T	ENSP00000371419:p.Glu1509Lys		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.E1509K	ENST00000381989.3	37	c.4525	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	c	0.058	-1.230354	0.01518	.	.	ENSG00000102699	ENST00000381989	T	0.01745	4.66	1.85	-3.7	0.04437	.	2.904290	0.01886	U	0.038224	T	0.01695	0.0054	L	0.36672	1.1	0.09310	N	1	B	0.28801	0.223	B	0.11329	0.006	T	0.42430	-0.9452	10	0.27082	T	0.32	.	5.0666	0.14585	0.2615:0.4603:0.2782:0.0	.	1509	Q9UKK3	PARP4_HUMAN	K	1509	ENSP00000371419:E1509K	ENSP00000371419:E1509K	E	-	1	0	PARP4	23906754	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.340000	0.19892	-1.685000	0.01441	-0.521000	0.04368	GAA	0	NULL		0.448	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	protein_coding	OTTHUMT00000044189.1	26	135	0	0.00	0	0	C	NM_006437	0	0		25008754	-1	no_errors	ENST00000381989	ensembl	human	known	74_37	missense	26	81	25.71	36.22	9	46	SNP	0	T	T	25008754	C	T	25008754	3	4	97	1	0	0	0	0	1	0	0	0	11463	893	31	2	665	2	PARP4	13	25008754	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	4786146	25008754	90161124	487	1686											
WASF3	10810	genome.wustl.edu	37	chr13	27255386	27255387	+	Frame_Shift_Ins	INS	-	-	C																															tcaacagacctcagcagccgINSccccccccgcctccccctca																								rs529756888|rs141429361	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:27255386_27255387insC	ENST00000335327.5	+	8	1090_1091	c.912_913insC	c.(913-915)cccfs	p.P305fs	WASF3_ENST00000361042.4_Frame_Shift_Ins_p.P302fs	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	305	Poly-Pro.				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)		CTCAGCAGCCGCCCCCCCCGCC	0.678																																							0											0										82,4062		3,76,1993						-6.7	0.1			31	128,8010		7,114,3948	no	frameshift	WASF3	NM_006646.5		10,190,5941	A1A1,A1R,RR		1.5729,1.9788,1.7098				210,12072				SO:0001589	frameshift_variant	0			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.920dupC	13.37:g.27255394_27255394dupC	ENSP00000335055:p.Pro305fs		O94974|Q86VQ2	Frame_Shift_Ins	INS	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P307fs	ENST00000335327.5	37	c.912_913	CCDS9318.1	13																																																																																			0	NULL		0.678	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	protein_coding	OTTHUMT00000044258.1	28	27	0	0.00	0	0	0		0	0		27255387	1	no_errors	ENST00000335327	ensembl	human	known	74_37	frame_shift_ins	11	25	59.26	37.50	16	15	INS	0.439:0.975	C	C	27255387	-	C	27255386	7	5	97	1	0	1	1	0	0	0	0	0	17251	1074	38	0	934	0	WASF3	13	27255386	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	2246632	27255386	87914492	488	1687											
BRCA2	675	genome.wustl.edu	37	chr13	32968921	32968921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggacattattaagcctcatAtgttaattgctgcaagcaac	14	12	7	8	0	1	0	1	0	0	0	1	1	1	1	1	1	5	4	1	1	6	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:32968921A>G	ENST00000380152.3	+	25	9585	c.9352A>G	c.(9352-9354)Atg>Gtg	p.M3118V	BRCA2_ENST00000544455.1_Missense_Mutation_p.M3118V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3118			M -> T (in BC). {ECO:0000269|PubMed:9609997}.		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)		TAAGCCTCATATGTTAATTGC	0.393			"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)		0	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													97	90	93					13																	32968921		2203	4300	6503	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)	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.9352A>G	13.37:g.32968921A>G	ENSP00000369497:p.Met3118Val		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.M3118V	ENST00000380152.3	37	c.9352	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	A	5.960	0.361035	0.11296	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.77489	-1.1;-1.1	5.89	-3.8	0.04307	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 3 (1);	0.882884	0.10249	N	0.697453	T	0.47154	0.1430	N	0.03324	-0.35	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.38045	-0.9679	10	0.13108	T	0.6	.	6.2395	0.20783	0.3439:0.0:0.4205:0.2356	.	3118	P51587	BRCA2_HUMAN	V	3118	ENSP00000369497:M3118V;ENSP00000439902:M3118V	ENSP00000369497:M3118V	M	+	1	0	BRCA2	31866921	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	-0.356000	0.07661	-0.654000	0.05394	-0.385000	0.06624	ATG	0	pfam_BRCA2_OB_3,superfamily_NA-bd_OB-fold,pirsf_BRCA2		0.393	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	protein_coding	OTTHUMT00000046000.2	148	271	0	0.00	0	0	A	NM_000059	0	0		32968921	1	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	69	232	28.87	29.18	28	96	SNP	0	G	G	32968921	A	G	32968921	3	3	97	1	0	0	0	0	1	0	0	0	1499	449	16	3	9446	3	BRCA2	13	32968921	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	5713535	32968921	82200957	489	1688											
NBEA	26960	genome.wustl.edu	37	chr13	35729943	35729943	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtatgtactcaggtcgtAcacaaaccacatccagagcc	14	7	7	13	1	1	1	1	0	0	1	3	1	2	1	3	1	4	3	3	1	5	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:35729943A>G	ENST00000400445.3	+	19	3012	c.2478A>G	c.(2476-2478)gtA>gtG	p.V826V	NBEA_ENST00000379939.2_Silent_p.V826V|NBEA_ENST00000310336.4_Silent_p.V826V|NBEA_ENST00000540320.1_Silent_p.V826V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	826					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)		CTCAGGTCGTACACAAACCAC	0.338																																							0											0													118	111	113					13																	35729943		1886	4116	6002	SO:0001819	synonymous_variant	0			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.2478A>G	13.37:g.35729943A>G			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.V826	ENST00000400445.3	37	c.2478	CCDS45026.1	13																																																																																			0	superfamily_ARM-type_fold		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		53	181	0	0.00	0	0	A	NM_015678	0	0		35729943	1	no_errors	ENST00000310336	ensembl	human	known	74_37	silent	26	159	28.95	30.57	11	70	SNP	0.901	G	G	35729943	A	G	35729943	2	3	97	1	0	0	0	0	0	0	0	1	10187	378	14	3		3	NBEA	13	35729943	Silent	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	2761022	35729943	79439935	490	1689											
FREM2	341640	genome.wustl.edu	37	chr13	39452457	39452457	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatatagatttaaaattgTggtaagtgctttgacccaaa	14	15	7	5	0	0	2	0	1	0	1	0	2	0	2	1	1	1	2	1	1	7	8			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:39452457T>C	ENST00000280481.7	+	22	9074	c.8858T>C	c.(8857-8859)gTg>gCg	p.V2953A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2953					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)		TTTAAAATTGTGGTAAGTGCT	0.403																																							0											0													57	55	55					13																	39452457		2203	4300	6503	SO:0001630	splice_region_variant	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8859+1T>C	13.37:g.39452457T>C			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.V2953A	ENST00000280481.7	37	c.8858	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010019	0.75046	.	.	ENSG00000150893	ENST00000280481	T	0.63744	-0.06	5.93	5.93	0.95920	.	0.063714	0.64402	D	0.000004	T	0.59838	0.2223	L	0.57536	1.79	0.49051	D	0.999745	P	0.36315	0.547	B	0.32928	0.155	T	0.64812	-0.6319	10	0.87932	D	0	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	2953	Q5SZK8	FREM2_HUMAN	A	2953	ENSP00000280481:V2953A	ENSP00000280481:V2953A	V	+	2	0	FREM2	38350457	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.998000	0.88491	2.270000	0.75569	0.482000	0.46254	GTG	0	NULL		0.403	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	59	189	0	0.00	0	0	T	NM_207361	0	0	Missense_Mutation	39452457	1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	25	213	30.56	19.92	11	53	SNP	1	C	C	39452457	T	C	39452457	5	2	97	1	0	0	0	0	0	0	1	0	6045	1710	59	3	8944	3	FREM2	13	39452457	Splice_Site	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	3722514	39452457	75717421	491	1690											
KIAA0564	23078	genome.wustl.edu	37	chr13	42481721	42481721	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctagagtgtgacagaacttgCctgatcaatgtaaaaggctg	13	10	11	7	0	1	4	1	2	0	2	1	4	1	4	1	1	2	2	1	1	5	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:42481721C>T	ENST00000379310.3	-	4	552		c.e4+1		RNU6-74P_ENST00000384235.1_RNA|VWA8_ENST00000281496.6_Splice_Site	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8							extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ACAGAACTTGCCTGATCAATG	0.443																																							0											0													181	140	154					13																	42481721		2203	4300	6503	SO:0001630	splice_region_variant	0			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.483+1G>A	13.37:g.42481721C>T			O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Splice_Site	SNP	0	e4+1	ENST00000379310.3	37	c.483+1	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557254	0.86231	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8058	0.92037	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0564	41379721	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.536000	0.82023	2.518000	0.84900	0.591000	0.81541	.	0	0		0.443	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	protein_coding	OTTHUMT00000354828.2	41	152	0	0.00	0	0	C	NM_015058	0	0	Intron	42481721	-1	no_errors	ENST00000379310	ensembl	human	known	74_37	splice_site	14	163	41.67	23.36	10	50	SNP	1	T	T	42481721	C	T	42481721	5	4	97	1	0	0	0	0	0	0	1	0	8185	753	26	3	5405	3	KIAA0564	13	42481721	Splice_Site	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3029264	42481721	72688157	492	1691											
SERP2	387923	genome.wustl.edu	37	chr13	44953801	44953801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaagaggagaaatatcctGtgggaccatggctgttggca	11	8	14	8	1	0	2	0	0	0	2	1	4	1	3	2	4	0	4	2	4	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:44953801G>A	ENST00000379179.3	+	2	293	c.109G>A	c.(109-111)Gtg>Atg	p.V37M		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	37					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		GAAATATCCTGTGGGACCATG	0.413																																							0											0													269	232	245					13																	44953801		2203	4300	6503	SO:0001583	missense	0			BC029067	CCDS31965.1	13q14.11	2008-02-05	2007-12-07	2007-12-07	ENSG00000151778	ENSG00000151778			20607	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 21"	C13orf21			Standard	NM_001010897		Approved	bA269C23.1	uc001uzj.3	Q8N6R1	OTTHUMG00000016833	ENST00000379179.3:c.109G>A	13.37:g.44953801G>A	ENSP00000368477:p.Val37Met			Missense_Mutation	SNP	pfam_ER_stress-assoc	p.V37M	ENST00000379179.3	37	c.109	CCDS31965.1	13	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465149	0.84425	.	.	ENSG00000151778	ENST00000379179	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	.	.	.	0.80722	D	1	D	0.61697	0.99	D	0.63957	0.92	T	0.78489	-0.2184	8	0.56958	D	0.05	.	16.7844	0.85570	0.0:0.0:1.0:0.0	.	37	Q8N6R1	SERP2_HUMAN	M	37	.	ENSP00000368477:V37M	V	+	1	0	SERP2	43851801	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.176000	0.89686	2.819000	0.97034	0.585000	0.79938	GTG	0	pfam_ER_stress-assoc		0.413	SERP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERP2	protein_coding	OTTHUMT00000044736.1	98	320	0	0.00	0	0	G	NM_001010897	0	0		44953801	1	no_errors	ENST00000493476	ensembl	human	known	74_37	missense	50	221	24.24	31.91	16	105	SNP	1	A	A	44953801	G	A	44953801	3	1	97	1	0	0	0	0	1	0	0	0	14085	1377	48	3	115	3	SERP2	13	44953801	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2472080	44953801	70216077	493	1692											
ZC3H13	23091	genome.wustl.edu	37	chr13	46553965	46553965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctctctctctgttgtcaCgacggtctcgctctccatgt	5	14	7	15	3	5	0	1	0	4	0	9	1	5	0	2	1	1	2	2	1	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:46553965C>T	ENST00000242848.4	-	11	2243	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R632H			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	632	Arg/Ser-rich.						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)		TCTGTTGTCACGACGGTCTCG	0.373																																					Esophageal Squamous(187;747 2077 11056 31291 44172)		0											0													153	144	147					13																	46553965		2203	4300	6503	SO:0001583	missense	0			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.1895G>A	13.37:g.46553965C>T	ENSP00000242848:p.Arg632His		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R632H	ENST00000242848.4	37	c.1895		13	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157907	0.57368	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.34859	2.36;1.34	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000004	T	0.53222	0.1783	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.29640	-1.0005	10	0.32370	T	0.25	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	632;632	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	H	632;632;448	ENSP00000242848:R632H;ENSP00000282007:R632H	ENSP00000242848:R632H	R	-	2	0	ZC3H13	45451966	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.104000	0.71498	2.937000	0.99478	0.650000	0.86243	CGT	0	NULL		0.373	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	protein_coding	OTTHUMT00000044789.1	74	229	0	0.00	0	0	C	NM_015070	0	0		46553965	-1	no_errors	ENST00000242848	ensembl	human	known	74_37	missense	60	230	21.05	29.01	16	94	SNP	1	T	T	46553965	C	T	46553965	3	4	97	1	0	0	0	0	1	0	0	0	17562	536	19	1	2827	1	ZC3H13	13	46553965	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1600164	46553965	68615913	494	1693											
CAB39L	81617	genome.wustl.edu	37	chr13	49906183	49906183	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctgatatactttgtcAtgatggcaaagttgtgacgg	9	14	12	6	1	1	3	1	3	0	0	1	3	1	3	0	2	2	4	0	2	3	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:49906183A>G	ENST00000355854.4	-	8	1231	c.734T>C	c.(733-735)aTg>aCg	p.M245T	CAB39L_ENST00000409308.1_Missense_Mutation_p.M245T|CAB39L_ENST00000410043.1_Missense_Mutation_p.M245T|CAB39L_ENST00000409130.1_Missense_Mutation_p.M101T|CAB39L_ENST00000347776.5_Missense_Mutation_p.M245T	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	245					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)		ATACTTTGTCATGATGGCAAA	0.433																																							0											0													163	149	154					13																	49906183		2203	4300	6503	SO:0001583	missense	0			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.734T>C	13.37:g.49906183A>G	ENSP00000348113:p.Met245Thr		Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	pfam_Mo25,superfamily_ARM-type_fold	p.M245T	ENST00000355854.4	37	c.734	CCDS9416.2	13	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132729	0.77662	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000409130;ENST00000425242;ENST00000410043	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	H	0.96301	3.8	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.81801	-0.0766	9	.	.	.	-32.5563	15.5755	0.76380	1.0:0.0:0.0:0.0	.	245	Q9H9S4	CB39L_HUMAN	T	245;245;222;245;101;188;245	ENSP00000348113:M245T;ENSP00000261669:M245T;ENSP00000386375:M245T;ENSP00000387245:M101T;ENSP00000416719:M188T;ENSP00000386328:M245T	.	M	-	2	0	CAB39L	48804184	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	ATG	0	pfam_Mo25,superfamily_ARM-type_fold		0.433	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39L	protein_coding	OTTHUMT00000044908.3	59	240	0	0.00	0	0	A	NM_030925	0	0		49906183	-1	no_errors	ENST00000347776	ensembl	human	known	74_37	missense	28	189	30.95	27.86	13	73	SNP	1	G	G	49906183	A	G	49906183	3	3	97	1	0	0	0	0	1	0	0	0	2526	217	8	3	287	3	CAB39L	13	49906183	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	3352218	49906183	65263695	495	1694											
SETDB2	83852	genome.wustl.edu	37	chr13	50056925	50056925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttatggtattgatgaaaaCgggagagatgagaatactat	15	12	11	3	1	1	4	0	3	1	2	1	7	1	5	0	2	2	1	0	2	7	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:50056925C>T	ENST00000317257.8	+	10	2070	c.1245C>T	c.(1243-1245)aaC>aaT	p.N415N	SETDB2_ENST00000258672.5_Silent_p.N403N|SETDB2_ENST00000354234.4_Silent_p.N403N	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	415	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TTGATGAAAACGGGAGAGATG	0.318																																							0											0													48	51	50					13																	50056925		2203	4298	6501	SO:0001819	synonymous_variant	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1245C>T	13.37:g.50056925C>T			Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,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	p.N415	ENST00000317257.8	37	c.1245	CCDS9417.1	13																																																																																			0	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.318	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	protein_coding	OTTHUMT00000044925.1	112	233	0	0.00	0	0	C	NM_031915	0	0		50056925	1	no_errors	ENST00000317257	ensembl	human	known	74_37	silent	50	190	15.25	26.36	9	68	SNP	0	T	T	50056925	C	T	50056925	2	4	97	1	0	0	0	0	0	0	0	1	14139	535	19	1		1	SETDB2	13	50056925	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	150742	50056925	65112953	496	1695											
INTS6	26512	genome.wustl.edu	37	chr13	51969467	51969468	+	Frame_Shift_Del	DEL	AG	AG	-																															tcacacattggtgtgattgcAgagtcatctaaaggcacacc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:51969467_51969468delAG	ENST00000311234.4	-	5	1053_1054	c.581_582delCT	c.(580-582)tctfs	p.S194fs	INTS6_ENST00000497989.1_Frame_Shift_Del_p.S16fs|INTS6_ENST00000420668.2_Intron|INTS6_ENST00000398119.2_Frame_Shift_Del_p.S181fs|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000463928.1_Frame_Shift_Del_p.S194fs	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	194	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTGTGATTGCAGAGTCATCTAA	0.416																																							0											0																																										SO:0001589	frameshift_variant	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.581_582delCT	13.37:g.51969469_51969470delAG	ENSP00000310260:p.Ser194fs		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Frame_Shift_Del	DEL	pfam_VWF_A,pfscan_VWF_A	p.S194fs	ENST00000311234.4	37	c.582_581	CCDS9428.1	13																																																																																			0	pfscan_VWF_A		0.416	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	protein_coding	OTTHUMT00000045023.1	91	76	0	0.00	0	0	AG	NM_012141	0	0		51969468	-1	no_errors	ENST00000311234	ensembl	human	known	74_37	frame_shift_del	49	74	26.87	26.00	18	26	DEL	1.000:1.000	0	-	51969468	AG	-	51969467	7	5	97	1	0	1	0	1	0	0	0	0	7782	175	7	0	2137	0	INTS6	13	51969467	Frame_Shift_Del	DEL	AG	TCGA-ZB-A966-01A-11D-A428-09	1912542	51969467	63200411	497	1696											
ATP7B	540	genome.wustl.edu	37	chr13	52520508	52520508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgacagccgtgggcGtggccagccccagggagcag	8	3	15	15	2	0	1	0	1	0	0	0	2	0	2	6	3	3	1	6	3	0	0	rs41292782		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:52520508G>A	ENST00000242839.4	-	13	3128	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M	ATP7B_ENST00000418097.2_Intron|ATP7B_ENST00000417240.2_Missense_Mutation_p.T263M|ATP7B_ENST00000400366.3_Missense_Mutation_p.T880M|ATP7B_ENST00000344297.5_Missense_Mutation_p.T784M|ATP7B_ENST00000448424.2_Missense_Mutation_p.T913M|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.T561M	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	991			T -> M (in WD; dbSNP:rs41292782). {ECO:0000269|PubMed:16088907}.		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)	AGCCGTGGGCGTGGCCAGCCC	0.632									Wilson disease				G|||	1	0.000199681	0	0	5008	,	,		17330	0		0.001	False		,,,				2504	0						0.9998,0.0001997											0			GRCh37	CM053119	ATP7B	M	rs41292782	G	MET/THR,MET/THR	3,3995		0,3,1996	49	53	52		2972,2351	5.2	1	13	dbSNP_127	52	20,8312		0,20,4146	no	missense,missense	ATP7B	NM_000053.3,NM_001005918.2	81,81	0,23,6142	AA,AG,GG		0.24,0.075,0.1865	probably-damaging,probably-damaging	991/1466,784/1259	52520508	23,12307	1999	4166	6165	SO:0001583	missense	0	Familial Cancer Database		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.2972C>T	13.37:g.52520508G>A	ENSP00000242839:p.Thr991Met		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.T991M	ENST00000242839.4	37	c.2972	CCDS41892.1	13	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	20.8	4.054460	0.75960	7.5E-4	0.0024	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.39	5.15	5.15	0.70609	ATPase, P-type, ATPase-associated domain (1);	0.088973	0.85682	D	0.000000	D	0.97068	0.9042	H	0.96175	3.78	0.80722	D	1	D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;0.786;0.961;1.0;1.0	D;D;D;B;B;D;D	0.97110	0.997;0.999;1.0;0.073;0.261;0.999;0.999	D	0.98057	1.0391	10	0.87932	D	0	-19.8496	18.8116	0.92059	0.0:0.0:1.0:0.0	rs41292782	913;943;263;561;880;784;991	E7ET55;B7ZLR4;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	M	991;880;784;263;913;561	ENSP00000242839:T991M;ENSP00000383217:T880M;ENSP00000342559:T784M;ENSP00000390360:T263M;ENSP00000416738:T913M;ENSP00000383221:T561M	ENSP00000242839:T991M	T	-	2	0	ATP7B	51418509	1.000000	0.71417	0.974000	0.42286	0.879000	0.50718	9.595000	0.98260	2.698000	0.92095	0.650000	0.86243	ACG	0	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P-typ_ATPase_IB		0.632	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	protein_coding	OTTHUMT00000045981.1	37	43	2.63	0.00	1	0	G	NM_000053	rs41292782	G->A		52520508	-1	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	40	36	16.67	20.00	8	9	SNP	1	A	A	52520508	G	A	52520508	3	1	97	1	0	0	0	0	1	0	0	0	1191	1145	40	1	1461	1	ATP7B	13	52520508	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	551041	52520508	62649370	498	1697											
SLITRK6	84189	genome.wustl.edu	37	chr13	86368997	86368997	+	Frame_Shift_Del	DEL	G	G	-																															tcctttttgtcgagatgcccGggggaagtgcagaggatgtc																								rs370271415		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:86368997delG	ENST00000400286.2	-	2	2245	c.1647delC	c.(1645-1647)cccfs	p.P549fs		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	549	LRRCT 2.				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)		CGAGATGCCCGGGGGAAGTGC	0.453																																							0											0													88	89	88					13																	86368997		1943	4139	6082	SO:0001589	frameshift_variant	0			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.1647delC	13.37:g.86368997delG	ENSP00000383143:p.Pro549fs		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H551fs	ENST00000400286.2	37	c.1647	CCDS41903.1	13																																																																																			0	smart_Cys-rich_flank_reg_C		0.453	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	protein_coding	OTTHUMT00000045404.2	32	195	0	0.00	0	0	G	NM_032229	0	0		86368997	-1	no_errors	ENST00000400286	ensembl	human	known	74_37	frame_shift_del	13	183	27.78	16.06	5	35	DEL	0.771	0	-	86368997	G	-	86368997	7	5	97	1	0	1	0	1	0	0	0	0	14747	1103	39	0	882	0	SLITRK6	13	86368997	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	33848489	86368997	28800881	499	1698											
GPC6	10082	genome.wustl.edu	37	chr13	94197638	94197638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagacaagccattttgtgCgcaccacttttgtgtccagg	10	11	10	10	1	0	1	0	0	0	1	1	2	1	1	3	1	2	1	3	1	2	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:94197638C>T	ENST00000377047.4	+	2	898	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	95					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)		p.R95C(1)|p.R95S(1)		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)				CCATTTTGTGCGCACCACTTT	0.398																																							0											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|lung(1)											154	147	149					13																	94197638		2203	4300	6503	SO:0001583	missense	0			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.283C>T	13.37:g.94197638C>T	ENSP00000366246:p.Arg95Cys		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.R95C	ENST00000377047.4	37	c.283	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729970	0.69074	.	.	ENSG00000183098	ENST00000377047	T	0.52983	0.64	5.05	3.11	0.35812	.	0.000000	0.64402	D	0.000002	T	0.61438	0.2347	L	0.60455	1.87	0.49798	D	0.999826	D;D	0.89917	1.0;0.999	D;D	0.65443	0.935;0.935	T	0.66006	-0.6030	10	0.72032	D	0.01	.	13.3944	0.60843	0.2943:0.7057:0.0:0.0	.	95;95	B4E2M1;Q9Y625	.;GPC6_HUMAN	C	95	ENSP00000366246:R95C	ENSP00000366246:R95C	R	+	1	0	GPC6	92995639	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	2.806000	0.47947	1.203000	0.43233	0.644000	0.83932	CGC	0	pfam_Glypican		0.398	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	protein_coding	OTTHUMT00000045460.4	117	239	0	0.42	0	1	C	NM_005708	0	0		94197638	1	no_errors	ENST00000377047	ensembl	human	known	74_37	missense	81	235	29.66	26.10	35	83	SNP	0.995	T	T	94197638	C	T	94197638	3	4	97	1	0	0	0	0	1	0	0	0	6602	768	27	1	289	1	GPC6	13	94197638	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7828641	94197638	20972240	500	1699											
CLDN10	9071	genome.wustl.edu	37	chr13	96205185	96205185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttaccgactccacgggcGtctccaactgcaaggacttc	8	8	10	15	4	1	0	0	0	1	0	4	2	2	1	3	2	3	2	3	2	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:96205185G>A	ENST00000299339.2	+	1	207	c.178G>A	c.(178-180)Gtc>Atc	p.V60I	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	60					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)			CTCCACGGGCGTCTCCAACTG	0.647																																							0											0													91	78	83					13																	96205185		2203	4300	6503	SO:0001583	missense	0			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.178G>A	13.37:g.96205185G>A	ENSP00000299339:p.Val60Ile		Q6IBF9|Q96N78	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin10,prints_Claudin	p.V60I	ENST00000299339.2	37	c.178	CCDS9476.1	13	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853517	0.91355	.	.	ENSG00000134873	ENST00000299339	D	0.89196	-2.48	4.18	4.18	0.49190	Claudin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89581	0.6756	L	0.50919	1.6	0.80722	D	1	D	0.54397	0.966	P	0.54026	0.74	D	0.86991	0.2110	10	0.17369	T	0.5	.	16.6955	0.85334	0.0:0.0:1.0:0.0	.	60	P78369	CLD10_HUMAN	I	60	ENSP00000299339:V60I	ENSP00000299339:V60I	V	+	1	0	CLDN10	95003186	1.000000	0.71417	0.969000	0.41365	0.867000	0.49689	7.347000	0.79356	2.146000	0.66826	0.305000	0.20034	GTC	0	pfam_PMP22/EMP/MP20/Claudin		0.647	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN10	protein_coding	OTTHUMT00000045484.1	69	124	0	0.00	0	0	G	NM_006984	0	0		96205185	1	no_errors	ENST00000299339	ensembl	human	known	74_37	missense	33	97	43.1	27.61	25	37	SNP	1	A	A	96205185	G	A	96205185	3	1	97	1	0	0	0	0	1	0	0	0	3472	1145	40	1	398	1	CLDN10	13	96205185	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2007547	96205185	18964693	501	1700											
ARGLU1	55082	genome.wustl.edu	37	chr13	107211856	107211856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaactgcttttccatgatgCgtttggcttcctccaccctt	5	15	7	14	1	0	1	0	1	0	0	3	1	3	1	4	1	3	4	4	1	1	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:107211856C>T	ENST00000400198.3	-	2	741	c.497G>A	c.(496-498)cGc>cAc	p.R166H	ARGLU1_ENST00000375926.1_Missense_Mutation_p.A16T|ARGLU1_ENST00000472226.1_5'Flank	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	166	Glu-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)					TTCCATGATGCGTTTGGCTTC	0.478																																							0											0													153	152	152					13																	107211856		1920	4134	6054	SO:0001583	missense	0			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.497G>A	13.37:g.107211856C>T	ENSP00000383059:p.Arg166His		B4E0Y3|Q5T257|Q6IQ34	Missense_Mutation	SNP	NULL	p.R166H	ENST00000400198.3	37	c.497	CCDS41906.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.770213|4.770213	0.90108|0.90108	.|.	.|.	ENSG00000134884|ENSG00000134884	ENST00000375926;ENST00000360629|ENST00000400198;ENST00000426600	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71074|0.71074	0.3297|0.3297	L|L	0.46157|0.46157	1.445|1.445	0.35632|0.35632	D|D	0.810307|0.810307	.|D	.|0.76494	.|0.999	.|D	.|0.74674	.|0.984	T|T	0.73799|0.73799	-0.3869|-0.3869	6|9	0.87932|0.38643	D|T	0|0.18	-4.5113|-4.5113	19.451|19.451	0.94867|0.94867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|166	.|Q9NWB6	.|ARGL1_HUMAN	T|H	16|166;116	.|.	ENSP00000353844:A16T|ENSP00000383059:R166H	A|R	-|-	1|2	0|0	ARGLU1|ARGLU1	106009857|106009857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.398000|7.398000	0.79919|0.79919	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	GCA|CGC	0	NULL		0.478	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	protein_coding	OTTHUMT00000045727.1	52	163	0	0.00	0	0	C	NM_018011	0	0		107211856	-1	no_errors	ENST00000400198	ensembl	human	known	74_37	missense	39	135	33.9	29.32	20	56	SNP	1	T	T	107211856	C	T	107211856	3	4	97	1	0	0	0	0	1	0	0	0	860	768	27	1	336	1	ARGLU1	13	107211856	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	11006671	107211856	7958022	502	1701											
IRS2	8660	genome.wustl.edu	37	chr13	110434873	110434873	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagagacattttccacGgaggccgagttgtggcgctt	8	10	14	9	3	0	2	0	1	0	2	1	6	1	3	2	3	0	2	2	3	0	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:110434873G>A	ENST00000375856.3	-	1	4042	c.3528C>T	c.(3526-3528)tcC>tcT	p.S1176S		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1176					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|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 metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|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 metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CATTTTCCACGGAGGCCGAGT	0.692																																					Melanoma(100;613 2409 40847)		0											0													3	3	3					13																	110434873		1740	3543	5283	SO:0001819	synonymous_variant	0			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3528C>T	13.37:g.110434873G>A			Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.S1176	ENST00000375856.3	37	c.3528	CCDS9510.1	13																																																																																			0	NULL		0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	protein_coding	OTTHUMT00000045755.1	24	80	0	0.00	0	0	G	NM_003749	0	0		110434873	-1	no_errors	ENST00000375856	ensembl	human	known	74_37	silent	16	62	38.46	31.87	10	29	SNP	0.016	A	A	110434873	G	A	110434873	2	1	97	1	0	0	0	0	0	0	0	1	7841	1103	39	2		2	IRS2	13	110434873	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3223017	110434873	4735005	503	1702											
TUBGCP3	10426	genome.wustl.edu	37	chr13	113140327	113140327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtgtgggagctgcgccGccccctggtacccagagaca	7	6	13	15	3	1	1	1	0	0	1	1	3	1	2	4	2	3	2	4	2	1	1	rs138098573		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:113140327G>A	ENST00000261965.3	-	22	2890	c.2704C>T	c.(2704-2706)Cgg>Tgg	p.R902W		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	902					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)					GAGCTGCGCCGCCCCCTGGTA	0.592																																							0											0								G	TRP/ARG	0,4400		0,0,2200	22	19	20		2704	4.6	1	13	dbSNP_134	20	1,8573		0,1,4286	no	missense	TUBGCP3	NM_006322.4	101	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	902/908	113140327	1,12973	2200	4287	6487	SO:0001583	missense	0			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.2704C>T	13.37:g.113140327G>A	ENSP00000261965:p.Arg902Trp		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	pfam_TUBGCP	p.R902W	ENST00000261965.3	37	c.2704	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702791	0.68501	0.0	1.17E-4	ENSG00000126216	ENST00000261965	T	0.27720	1.65	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.977	D;B	0.91635	0.999;0.359	T	0.51529	-0.8694	10	0.45353	T	0.12	-28.3278	13.8112	0.63264	0.0:0.0:0.8368:0.1632	.	892;902	B4DYP7;Q96CW5	.;GCP3_HUMAN	W	902	ENSP00000261965:R902W	ENSP00000261965:R902W	R	-	1	2	TUBGCP3	112188328	0.992000	0.36948	0.995000	0.50966	0.752000	0.42762	1.341000	0.33907	2.262000	0.75019	0.655000	0.94253	CGG	0	NULL		0.592	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	protein_coding	OTTHUMT00000045825.2	54	46	0	0.00	0	0	G	NM_006322	rs138098573	G->A		113140327	-1	no_errors	ENST00000261965	ensembl	human	known	74_37	missense	33	33	23.26	21.43	10	9	SNP	1	A	A	113140327	G	A	113140327	3	1	97	1	0	0	0	0	1	0	0	0	16764	1086	38	1	23	1	TUBGCP3	13	113140327	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2705454	113140327	2029551	504	1703											
CUL4A	8451	genome.wustl.edu	37	chr13	113887634	113887634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgttgcggagcctcctggGcatgctgtctgacctgcagg	4	10	14	13	1	1	1	0	1	1	0	2	2	2	2	4	3	4	4	4	3	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:113887634G>A	ENST00000375440.4	+	6	740	c.656G>A	c.(655-657)gGc>gAc	p.G219D	CUL4A_ENST00000451881.1_Missense_Mutation_p.G119D|CUL4A_ENST00000326335.4_Missense_Mutation_p.G119D|CUL4A_ENST00000375441.3_Missense_Mutation_p.G119D	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	219					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGCCTCCTGGGCATGCTGTCT	0.547																																							0											0													73	63	66					13																	113887634		2203	4300	6503	SO:0001583	missense	0			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.656G>A	13.37:g.113887634G>A	ENSP00000364589:p.Gly219Asp		A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	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.G219D	ENST00000375440.4	37	c.656	CCDS41908.1	13	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814758	0.70912	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.5	4.5	0.54988	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.205797	0.56097	D	0.000040	T	0.54695	0.1874	N	0.11673	0.155	0.52099	D	0.999949	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.53436	-0.8439	10	0.07482	T	0.82	-13.3105	17.5816	0.87970	0.0:0.0:1.0:0.0	.	219;219	Q13619;A8MSH7	CUL4A_HUMAN;.	D	119;119;119;219	ENSP00000364590:G119D;ENSP00000389118:G119D;ENSP00000322132:G119D;ENSP00000364589:G219D	ENSP00000322132:G119D	G	+	2	0	CUL4A	112935635	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.553000	0.98118	2.193000	0.70182	0.561000	0.74099	GGC	0	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.547	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	protein_coding	OTTHUMT00000045888.3	61	64	0	0.00	0	0	G	NM_003589	0	0		113887634	1	no_errors	ENST00000375440	ensembl	human	known	74_37	missense	29	46	27.5	18.97	11	11	SNP	1	A	A	113887634	G	A	113887634	3	1	97	1	0	0	0	0	1	0	0	0	4057	1203	42	3	678	3	CUL4A	13	113887634	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	747307	113887634	1282244	505	1704											
OR4N2	390429	genome.wustl.edu	37	chr14	20295852	20295852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtggctccccggatgtTggtggacttcctctctgcga	4	13	12	12	2	1	0	0	0	1	0	4	3	3	2	3	4	1	2	3	4	0	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:20295852T>C	ENST00000315947.1	+	1	245	c.245T>C	c.(244-246)tTg>tCg	p.L82S	OR4N2_ENST00000568211.1_Missense_Mutation_p.L82S	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, 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(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)		CCCCGGATGTTGGTGGACTTC	0.517																																							0											0													145	167	160					14																	20295852		2203	4300	6503	SO:0001583	missense	0				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.245T>C	14.37:g.20295852T>C	ENSP00000319601:p.Leu82Ser		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L82S	ENST00000315947.1	37	c.245	CCDS32022.1	14	.	.	.	.	.	.	.	.	.	.	.	18.82	3.704707	0.68615	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00428	7.44;7.44	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	N	0.001606	T	0.01592	0.0051	M	0.92367	3.3	0.30028	N	0.813731	D	0.89917	1.0	D	0.97110	1.0	T	0.01444	-1.1353	10	0.87932	D	0	-7.8708	11.7038	0.51585	0.0:0.0:0.0:1.0	.	82	Q8NGD1	OR4N2_HUMAN	S	82	ENSP00000452022:L82S;ENSP00000319601:L82S	ENSP00000319601:L82S	L	+	2	0	OR4N2	19365692	0.179000	0.23135	1.000000	0.80357	0.943000	0.58893	2.907000	0.48743	1.922000	0.55676	0.482000	0.46254	TTG	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	protein_coding	OTTHUMT00000409821.2	136	59	0.73	0.00	1	0	T		0	0		20295852	1	no_errors	ENST00000315947	ensembl	human	known	74_37	missense	104	36	16.8	16.28	21	7	SNP	0.977	C	C	20295852	T	C	20295852	3	2	97	1	0	0	0	0	1	0	0	0	11077	1821	63	3	247	3	OR4N2	14	20295852	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09		20295852	87053688	506	1705											
METT11D1	64745	genome.wustl.edu	37	chr14	21461287	21461287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcttcagatccgggctcGaaatccagcatttcagccac	10	11	7	13	2	3	1	2	0	1	1	6	2	5	1	3	1	2	2	3	1	1	3	rs188874835		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:21461287G>A	ENST00000339374.6	+	6	772	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	METTL17_ENST00000556670.2_Missense_Mutation_p.R180Q|METTL17_ENST00000382985.4_Missense_Mutation_p.R180Q|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	180					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						ATCCGGGCTCGAAATCCAGCA	0.413																																							0											0													179	165	170					14																	21461287		2203	4300	6503	SO:0001583	missense	0			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.539G>A	14.37:g.21461287G>A	ENSP00000343041:p.Arg180Gln		Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11	p.R180Q	ENST00000339374.6	37	c.539	CCDS9562.1	14	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.74	1.434797	0.25813	.	.	ENSG00000165792	ENST00000339374;ENST00000382985;ENST00000553564;ENST00000554751;ENST00000555670	T;T;T;T	0.33654	1.4;1.4;1.98;1.4	5.29	3.48	0.39840	.	0.070231	0.56097	N	0.000035	T	0.41026	0.1141	M	0.90705	3.14	0.32601	N	0.525949	P;B;B	0.43287	0.802;0.32;0.324	B;B;B	0.34138	0.147;0.176;0.146	T	0.60616	-0.7228	10	0.56958	D	0.05	.	9.9583	0.41680	0.167:0.0:0.833:0.0	.	180;180;180	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	Q	180;180;98;98;98	ENSP00000343041:R180Q;ENSP00000372445:R180Q;ENSP00000451478:R98Q;ENSP00000451049:R98Q	ENSP00000343041:R180Q	R	+	2	0	METTL17	20531127	0.980000	0.34600	0.355000	0.25773	0.329000	0.28539	2.153000	0.42282	0.621000	0.30232	-0.216000	0.12614	CGA	0	pfam_Ribosomal_Rsm22_bac-type		0.413	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL17	protein_coding	OTTHUMT00000073804.4	50	264	0	0.00	0	0	G	NM_022734	rs188874835	G->A		21461287	1	no_errors	ENST00000382985	ensembl	human	known	74_37	missense	31	195	24.39	36.27	10	111	SNP	0.449	A	A	21461287	G	A	21461287	3	1	97	1	0	0	0	0	1	0	0	0	9491	1058	37	2	561	2	METT11D1	14	21461287	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1165435	21461287	85888253	507	1706											
ZNF219	51222	genome.wustl.edu	37	chr14	21560534	21560534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccttgaagcagcggcCgcacaccggacacgcatgat	9	5	13	14	4	0	2	0	2	0	0	1	3	1	3	3	3	2	4	3	3	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:21560534C>T	ENST00000360947.3	-	3	1333	c.922G>A	c.(922-924)Ggc>Agc	p.G308S	ZNF219_ENST00000556101.1_5'Flank|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.G308S|ZNF219_ENST00000451119.2_Missense_Mutation_p.G308S	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	308					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|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)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AAGCAGCGGCCGCACACCGGA	0.632																																							0											0													18	16	17					14																	21560534		2189	4295	6484	SO:0001583	missense	0			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.922G>A	14.37:g.21560534C>T	ENSP00000354206:p.Gly308Ser		D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt	p.G308S	ENST00000360947.3	37	c.922	CCDS9568.1	14	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940039	0.92526	.	.	ENSG00000165804	ENST00000360947;ENST00000555274;ENST00000451119;ENST00000421093	T;T;T	0.58358	0.34;0.34;0.34	4.44	4.44	0.53790	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	0.63094	0.2482	L	0.39898	1.24	0.46260	D	0.998951	D	0.76494	0.999	D	0.70227	0.968	T	0.66563	-0.5892	10	0.72032	D	0.01	-13.2369	14.6196	0.68574	0.0:1.0:0.0:0.0	.	308	Q9P2Y4	ZN219_HUMAN	S	308;7;308;308	ENSP00000354206:G308S;ENSP00000388558:G308S;ENSP00000392401:G308S	ENSP00000354206:G308S	G	-	1	0	ZNF219	20630374	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.772000	0.68889	2.303000	0.77524	0.467000	0.42956	GGC	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.632	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF219	protein_coding	OTTHUMT00000073931.2	13	57	0	0.00	0	0	C		0	0		21560534	-1	no_errors	ENST00000360947	ensembl	human	known	74_37	missense	10	55	23.08	26.67	3	20	SNP	1	T	T	21560534	C	T	21560534	3	4	97	1	0	0	0	0	1	0	0	0	17770	652	23	2	1258	2	ZNF219	14	21560534	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	99247	21560534	85789006	508	1707											
PRMT5	10419	genome.wustl.edu	37	chr14	23395919	23395919	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagacataccacatccaCgttttctcctccccactgta	10	10	6	15	1	1	1	0	0	1	1	4	2	3	1	5	1	1	2	5	1	2	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:23395919C>T	ENST00000324366.8	-	5	778	c.555G>A	c.(553-555)acG>acA	p.T185T	RP11-298I3.1_ENST00000548819.1_RNA|PRMT5_ENST00000553897.1_Silent_p.T141T|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000590290.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000538452.1_Silent_p.T79T|PRMT5_ENST00000216350.8_Silent_p.T124T|PRMT5_ENST00000397441.2_Silent_p.T168T|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000587245.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	185	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ACCACATCCACGTTTTCTCCT	0.537																																							0											0													284	193	224					14																	23395919		2203	4300	6503	SO:0001819	synonymous_variant	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.555G>A	14.37:g.23395919C>T			A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Silent	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.T185	ENST00000324366.8	37	c.555	CCDS9579.1	14																																																																																			0	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5		0.537	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	protein_coding	OTTHUMT00000071674.3	49	246	0	0.00	0	0	C		0	0		23395919	-1	no_errors	ENST00000324366	ensembl	human	known	74_37	silent	28	211	28.21	26.64	11	77	SNP	0.716	T	T	23395919	C	T	23395919	2	4	97	1	0	0	0	0	0	0	0	1	12539	523	19	1		1	PRMT5	14	23395919	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1835385	23395919	83953621	509	1708											
CMTM5	116173	genome.wustl.edu	37	chr14	23847585	23847585	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcatcatcttcatctgcTtcacggcctccatctctgcc	5	13	4	19	1	7	0	4	0	3	0	9	0	8	0	4	1	2	1	4	1	0	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:23847585T>G	ENST00000339180.4	+	2	370	c.154T>G	c.(154-156)Ttc>Gtc	p.F52V	CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000359320.3_Missense_Mutation_p.F52V|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.F52V|CMTM5_ENST00000342473.4_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	52	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CTTCATCTGCTTCACGGCCTC	0.587																																							0											0													188	139	156					14																	23847585		2203	4300	6503	SO:0001583	missense	0			BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"chemokine-like factor super family 5", "chemokine-like factor superfamily 5"	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.154T>G	14.37:g.23847585T>G	ENSP00000344819:p.Phe52Val		E9PH91|Q5PY48	Missense_Mutation	SNP	NULL	p.F52V	ENST00000339180.4	37	c.154		14	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068253	0.76301	.	.	ENSG00000166091	ENST00000359320;ENST00000382809;ENST00000339180	T;T;T	0.63096	2.02;-0.02;2.02	5.94	5.94	0.96194	Marvel (1);	0.000000	0.64402	D	0.000007	T	0.77558	0.4148	M	0.70595	2.14	0.42155	D	0.991571	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.994;0.986;0.996	T	0.78066	-0.2349	10	0.44086	T	0.13	-24.1799	14.3472	0.66675	0.0:0.0:0.0:1.0	.	52;52;52	Q96DZ9;E9PH91;Q96DZ9-2	CKLF5_HUMAN;.;.	V	52	ENSP00000352270:F52V;ENSP00000372259:F52V;ENSP00000344819:F52V	ENSP00000344819:F52V	F	+	1	0	CMTM5	22917425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.005000	0.40864	2.272000	0.75746	0.460000	0.39030	TTC	0	NULL		0.587	CMTM5-003	KNOWN	basic	protein_coding	CMTM5	protein_coding	OTTHUMT00000133708.2	35	119	0	0.00	0	0	T		0	0		23847585	1	no_errors	ENST00000339180	ensembl	human	known	74_37	missense	16	82	15.79	32.79	3	40	SNP	1	G	G	23847585	T	G	23847585	3	3	97	1	0	0	0	0	1	0	0	0	3586	1609	56	5	160	5	CMTM5	14	23847585	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	451666	23847585	83501955	510	1709											
PCK2	5106	genome.wustl.edu	37	chr14	24572069	24572069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagggtgtccccattgacGccatcatctttggtggccgc	6	10	12	13	2	2	2	1	1	1	1	3	2	3	2	4	3	0	0	4	3	0	2	rs551184706		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:24572069G>A	ENST00000216780.4	+	8	1610	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.A314T|PCK2_ENST00000545054.2_Missense_Mutation_p.A314T|PCK2_ENST00000558096.1_Missense_Mutation_p.A314T|PCK2_ENST00000559250.1_Missense_Mutation_p.A460T	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	448					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CCCCATTGACGCCATCATCTT	0.577													G|||	1	0.000199681	0	0	5008	,	,		17777	0		0.001	False		,,,				2504	0						0.9998,0.0001997											0													92	95	94					14																	24572069		2203	4300	6503	SO:0001583	missense	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1342G>A	14.37:g.24572069G>A	ENSP00000216780:p.Ala448Thr		O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.A448T	ENST00000216780.4	37	c.1342	CCDS9609.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.065861	0.93898	.	.	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.08008	3.14;3.14	5.57	4.68	0.58851	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.977;0.997;0.997	T	0.60167	-0.7316	10	0.87932	D	0	-15.0813	11.9933	0.53188	0.0842:0.0:0.9158:0.0	.	314;448;448	B4DW73;Q16822;Q6IB91	.;PCKGM_HUMAN;.	T	448;314	ENSP00000216780:A448T;ENSP00000441826:A314T	ENSP00000216780:A448T	A	+	1	0	PCK2	23641909	1.000000	0.71417	0.964000	0.40570	0.912000	0.54170	9.299000	0.96137	1.363000	0.46019	0.655000	0.94253	GCC	0	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP		0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	protein_coding	OTTHUMT00000071900.3	35	100	0	0.00	0	0	G	NM_001018073	rs551184706	G->A		24572069	1	no_errors	ENST00000216780	ensembl	human	known	74_37	missense	25	106	21.88	23.02	7	32	SNP	1	A	A	24572069	G	A	24572069	3	1	97	1	0	0	0	0	1	0	0	0	11582	1087	38	1	1464	1	PCK2	14	24572069	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	724484	24572069	82777471	511	1710											
TGM1	7051	genome.wustl.edu	37	chr14	24729876	24729876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccactgggatgatcacgtgCgtgcccttgcccacctcggg	5	8	12	16	3	1	1	1	1	0	0	2	2	1	2	4	2	3	0	4	2	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:24729876C>T	ENST00000206765.6	-	4	660	c.537G>A	c.(535-537)acG>acA	p.T179T	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	179					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)	TGATCACGTGCGTGCCCTTGC	0.612																																							0											0													114	103	107					14																	24729876		2203	4300	6503	SO:0001819	synonymous_variant	0			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.537G>A	14.37:g.24729876C>T			B4DWR7|Q197M4	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.T179	ENST00000206765.6	37	c.537	CCDS9622.1	14																																																																																			0	pfam_Transglutaminase_N,superfamily_Ig_E-set		0.612	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	protein_coding	OTTHUMT00000073160.6	29	157	0	0.00	0	0	C	NM_000359	0	0		24729876	-1	no_errors	ENST00000206765	ensembl	human	known	74_37	silent	20	124	31.03	32.24	9	59	SNP	0.998	T	T	24729876	C	T	24729876	2	4	97	1	0	0	0	0	0	0	0	1	15826	755	27	1		1	TGM1	14	24729876	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	157807	24729876	82619664	512	1711											
ARHGAP5	394	genome.wustl.edu	37	chr14	32562695	32562696	+	Frame_Shift_Ins	INS	-	-	A																															tttttagtgatgttctagagINSaaaaaaaatatgatagaaaa																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:32562695_32562696insA	ENST00000345122.3	+	2	3135_3136	c.2820_2821insA	c.(2821-2823)aaafs	p.K941fs	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Ins_p.K941fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Ins_p.K941fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Ins_p.K941fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	941					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.N943fs*2(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGTTCTAGAGAAAAAAAATAT	0.342																																					NSCLC(9;77 350 3443 29227 41353)		0											1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2828dupA	14.37:g.32562703_32562703dupA	ENSP00000371897:p.Lys941fs		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Ins	INS	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.N942fs	ENST00000345122.3	37	c.2820_2821	CCDS32062.1	14																																																																																			0	NULL		0.342	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	protein_coding	OTTHUMT00000409735.1	106	81	0	0.00	0	0	0	NM_001030055	0	0		32562696	1	no_errors	ENST00000345122	ensembl	human	known	74_37	frame_shift_ins	55	89	31.25	19.82	25	22	INS	1.000:1.000	A	A	32562696	-	A	32562695	7	5	97	1	0	1	1	0	0	0	0	0	886	933	33	0	2822	0	ARHGAP5	14	32562695	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	7832819	32562695	74786845	513	1712											
AKAP6	9472	genome.wustl.edu	37	chr14	33291302	33291302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttccaaatagctctcagtCgtccatttcaccagtgggtt	8	13	8	12	1	2	0	2	0	1	0	6	0	4	0	3	1	1	3	3	1	2	4	rs537245618		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:33291302C>T	ENST00000280979.4	+	13	4453	c.4283C>T	c.(4282-4284)tCg>tTg	p.S1428L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1428					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)		AGCTCTCAGTCGTCCATTTCA	0.398													C|||	1	0.000199681	0	0	5008	,	,		20674	0		0	False		,,,				2504	0.001				Melanoma(49;821 1200 7288 13647 42351)		0.9998,0.0001997											0													53	53	53					14																	33291302		2203	4300	6503	SO:0001583	missense	0			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.4283C>T	14.37:g.33291302C>T	ENSP00000280979:p.Ser1428Leu		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.S1428L	ENST00000280979.4	37	c.4283	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857442	0.17106	.	.	ENSG00000151320	ENST00000280979	T	0.05855	3.38	5.6	4.7	0.59300	.	0.828401	0.10827	N	0.629804	T	0.03871	0.0109	N	0.11560	0.145	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.42515	-0.9447	10	0.24483	T	0.36	0.6226	7.3337	0.26596	0.0:0.7881:0.0:0.2119	.	1428	Q13023	AKAP6_HUMAN	L	1428	ENSP00000280979:S1428L	ENSP00000280979:S1428L	S	+	2	0	AKAP6	32361053	0.977000	0.34250	0.997000	0.53966	0.984000	0.73092	1.375000	0.34295	1.321000	0.45227	0.563000	0.77884	TCG	0	NULL		0.398	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	protein_coding	OTTHUMT00000276617.2	63	289	0	0.00	0	0	C	NM_004274	rs537245618	C->T		33291302	1	no_errors	ENST00000280979	ensembl	human	known	74_37	missense	45	272	26.23	24.86	16	90	SNP	0.991	T	T	33291302	C	T	33291302	3	4	97	1	0	0	0	0	1	0	0	0	455	893	31	2	4329	2	AKAP6	14	33291302	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	728607	33291302	74058238	514	1713											
MGAT2	4247	genome.wustl.edu	37	chr14	50088616	50088616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgctttgaaattggggtgCatcaatgctgagtatcccga	9	11	12	9	2	1	2	1	2	0	0	2	3	2	2	2	2	2	4	2	2	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:50088616C>T	ENST00000305386.2	+	1	1128	c.630C>T	c.(628-630)tgC>tgT	p.C210C	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	210					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					AATTGGGGTGCATCAATGCTG	0.488																																							0											0													109	106	107					14																	50088616		2203	4300	6503	SO:0001819	synonymous_variant	0			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.630C>T	14.37:g.50088616C>T			B3KPC5|B3KQM0	Silent	SNP	pfam_GlcNAc_II	p.C210	ENST00000305386.2	37	c.630	CCDS9690.1	14																																																																																			0	pfam_GlcNAc_II		0.488	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT2	protein_coding	OTTHUMT00000276807.1	51	201	0	0.00	0	0	C	NM_002408	0	0		50088616	1	no_errors	ENST00000305386	ensembl	human	known	74_37	silent	32	168	34.69	33.07	17	83	SNP	1	T	T	50088616	C	T	50088616	2	4	97	1	0	0	0	0	0	0	0	1	9543	718	25	3		3	MGAT2	14	50088616	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	16797314	50088616	57260924	515	1714											
SYNE2	23224	genome.wustl.edu	37	chr14	64468724	64468724	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacttcttctctgtggctcGgacctgcctctccataaaat	7	14	6	14	1	4	0	1	0	3	0	7	1	4	1	3	2	1	1	3	2	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:64468724G>A	ENST00000344113.4	+	29	3923	c.3711G>A	c.(3709-3711)tcG>tcA	p.S1237S	SYNE2_ENST00000358025.3_Silent_p.S1237S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.S1237S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1237					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)		TCTGTGGCTCGGACCTGCCTC	0.458																																							0											0													109	114	112					14																	64468724		1929	4128	6057	SO:0001819	synonymous_variant	0			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.3711G>A	14.37:g.64468724G>A			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.S1237	ENST00000344113.4	37	c.3711	CCDS41963.1	14																																																																																			0	NULL		0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	51	154	0	0.00	0	0	G	NM_182914	0	0		64468724	1	no_errors	ENST00000358025	ensembl	human	known	74_37	silent	26	149	25.71	25.50	9	51	SNP	0.001	A	A	64468724	G	A	64468724	2	1	97	1	0	0	0	0	0	0	0	1	15443	1103	39	2		2	SYNE2	14	64468724	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	14380108	64468724	42880816	516	1715											
GALNTL1	57452	genome.wustl.edu	37	chr14	69806306	69806306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatactactatgaggcccGgccctcggccatcgggaagg	9	6	13	13	3	0	1	0	1	0	0	2	2	0	2	3	5	2	1	3	5	5	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:69806306G>A	ENST00000337827.4	+	11	1484	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	GALNT16_ENST00000553669.1_Missense_Mutation_p.R386Q|GALNT16_ENST00000448469.3_Missense_Mutation_p.R386Q	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	386					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)										TATGAGGCCCGGCCCTCGGCC	0.537																																							0											0													77	77	77					14																	69806306		2203	4300	6503	SO:0001583	missense	0			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.1157G>A	14.37:g.69806306G>A	ENSP00000336729:p.Arg386Gln		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R386Q	ENST00000337827.4	37	c.1157	CCDS32107.1	14	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880900	0.72294	.	.	ENSG00000100626	ENST00000337827;ENST00000536652;ENST00000448469;ENST00000553669	T;T;T	0.64438	-0.1;-0.1;-0.1	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.66497	0.901;0.944	T	0.78486	-0.2185	10	0.29301	T	0.29	.	18.6071	0.91271	0.0:0.0:1.0:0.0	.	386;386	Q8N428;Q58A55	GLTL1_HUMAN;.	Q	386;12;386;386	ENSP00000336729:R386Q;ENSP00000402970:R386Q;ENSP00000451200:R386Q	ENSP00000336729:R386Q	R	+	2	0	GALNTL1	68876059	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.619000	0.83057	2.399000	0.81585	0.462000	0.41574	CGG	0	NULL		0.537	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT16	protein_coding	OTTHUMT00000412434.1	39	119	0	0.00	0	0	G	NM_001168368	0	0		69806306	1	no_errors	ENST00000337827	ensembl	human	known	74_37	missense	21	103	16	29.25	4	43	SNP	1	A	A	69806306	G	A	69806306	3	1	97	1	0	0	0	0	1	0	0	0	6221	1116	39	2	1199	2	GALNTL1	14	69806306	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	5337582	69806306	37543234	517	1716											
MLH3	27030	genome.wustl.edu	37	chr14	75483880	75483880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggcctgggccattttgcGaagtttagtgaggttgggtt	6	13	15	7	1	0	1	0	1	0	0	0	2	0	1	3	4	1	3	3	4	2	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:75483880G>A	ENST00000556740.1	-	12	4302	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C	MLH3_ENST00000355774.2_Missense_Mutation_p.R1423C|MLH3_ENST00000238662.7_Missense_Mutation_p.R1399C|MLH3_ENST00000380968.2_Missense_Mutation_p.R361C|MLH3_ENST00000556257.1_Missense_Mutation_p.R1245C			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1423					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GCCATTTTGCGAAGTTTAGTG	0.478								Mismatch excision repair (MMR)																															0											0													111	105	107					14																	75483880		2203	4300	6503	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.4267C>T	14.37:g.75483880G>A	ENSP00000452316:p.Arg1423Cys		P49751|Q56DK9|Q9P292|Q9UHC0	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,superfamily_WW_dom,smart_MutL_C	p.R1423C	ENST00000556740.1	37	c.4267	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150176	0.37923	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740	D;T;D;D;D	0.83250	-1.7;0.49;-1.52;-1.58;-1.7	5.66	3.82	0.43975	.	0.199848	0.50627	N	0.000106	T	0.72969	0.3527	L	0.41710	1.295	0.80722	D	1	B;B	0.21753	0.046;0.06	B;B	0.13407	0.009;0.007	T	0.69281	-0.5186	10	0.49607	T	0.09	-0.4582	6.678	0.23106	0.1523:0.0:0.7061:0.1416	.	1399;1423	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	C	1423;361;1399;1245;1423	ENSP00000348020:R1423C;ENSP00000370355:R361C;ENSP00000238662:R1399C;ENSP00000451540:R1245C;ENSP00000452316:R1423C	ENSP00000238662:R1399C	R	-	1	0	MLH3	74553633	0.982000	0.34865	0.987000	0.45799	0.628000	0.37860	0.381000	0.20619	1.390000	0.46547	0.655000	0.94253	CGC	0	NULL		0.478	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	protein_coding	OTTHUMT00000415006.1	60	245	0	0.41	0	1	G	NM_014381	0	0		75483880	-1	no_errors	ENST00000355774	ensembl	human	known	74_37	missense	38	209	40.62	28.18	26	82	SNP	0.989	A	A	75483880	G	A	75483880	3	1	97	1	0	0	0	0	1	0	0	0	9618	1058	37	2	98	2	MLH3	14	75483880	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	5677574	75483880	31865660	518	1717											
GALC	2581	genome.wustl.edu	37	chr14	88411976	88411976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctggttgagaacttggcGtagcgtgaagtgatgctcgc	7	12	14	8	3	1	3	0	3	1	1	3	4	1	3	0	2	3	3	0	2	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:88411976G>A	ENST00000261304.2	-	14	1697	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	GALC_ENST00000393569.2_Missense_Mutation_p.R505C|GALC_ENST00000544807.2_Missense_Mutation_p.R475C|GALC_ENST00000393568.4_Missense_Mutation_p.R508C	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity). {ECO:0000269|PubMed:10234611}.		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						AGAACTTGGCGTAGCGTGAAG	0.408																																							0											0			GRCh37	CM970566	GALC	M							123	119	120					14																	88411976		1884	4095	5979	SO:0001583	missense	0			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.1591C>T	14.37:g.88411976G>A	ENSP00000261304:p.Arg531Cys		B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59	p.R531C	ENST00000261304.2	37	c.1591	CCDS9878.2	14	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571353	0.45798	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	5.5	4.6	0.57074	.	0.048176	0.85682	D	0.000000	D	0.97779	0.9271	M	0.91140	3.18	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;1.0;1.0;1.0	D	0.98883	1.0770	10	0.87932	D	0	-13.106	16.56	0.84537	0.0:0.1308:0.8692:0.0	.	475;508;505;531	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	C	531;475;505;320;508	ENSP00000261304:R531C;ENSP00000437513:R475C;ENSP00000377199:R505C;ENSP00000377198:R508C	ENSP00000261304:R531C	R	-	1	0	GALC	87481729	1.000000	0.71417	0.762000	0.31397	0.009000	0.06853	6.409000	0.73289	1.441000	0.47550	-0.291000	0.09656	CGC	0	pfam_Glyco_hydro_59		0.408	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALC	protein_coding	OTTHUMT00000071559.2	110	200	0	0.00	0	0	G		0	0		88411976	-1	no_errors	ENST00000261304	ensembl	human	known	74_37	missense	53	146	37.65	35.11	32	79	SNP	0.997	A	A	88411976	G	A	88411976	3	1	97	1	0	0	0	0	1	0	0	0	6201	1145	40	1	482	1	GALC	14	88411976	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	12928096	88411976	18937564	519	1718											
C14orf68	283600	genome.wustl.edu	37	chr14	100795092	100795093	+	Frame_Shift_Ins	INS	-	-	A																															cgtcgcccactgaggtggccINSaaagtccgcttgcagacgca																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:100795092_100795093insA	ENST00000361529.3	+	5	435_436	c.357_358insA	c.(358-360)aaafs	p.K120fs	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	120					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						CTGAGGTGGCCAAAGTCCGCTT	0.673																																					GBM(11;1289 1351)		0											0																																										SO:0001589	frameshift_variant	0				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.360dupA	14.37:g.100795095_100795095dupA	ENSP00000354886:p.Lys120fs		B2RP39|Q68CL2|Q6PZD8|Q86U14	Frame_Shift_Ins	INS	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.V120fs	ENST00000361529.3	37	c.357_358	CCDS9959.1	14																																																																																			0	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.673	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A47	protein_coding	OTTHUMT00000414231.1	42	38	0	0.00	0	0	0		0	0		100795093	1	no_errors	ENST00000361529	ensembl	human	known	74_37	frame_shift_ins	18	27	28	40.00	7	18	INS	1.000:1.000	A	A	100795093	-	A	100795092	7	5	97	1	0	1	1	0	0	0	0	0	1778	581	21	0	375	0	C14orf68	14	100795092	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	12383116	100795092	6554448	520	1719											
WDR25	79446	genome.wustl.edu	37	chr14	100848025	100848025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacaccattcagtggtGtccagtcctttctaagagcc	9	12	8	12	0	3	1	2	0	1	1	5	1	5	1	4	1	2	0	4	1	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:100848025G>A	ENST00000335290.6	+	2	990	c.764G>A	c.(763-765)tGt>tAt	p.C255Y	WDR25_ENST00000554175.1_Missense_Mutation_p.C255Y|WDR25_ENST00000402312.3_Missense_Mutation_p.C255Y|WDR25_ENST00000554998.1_Missense_Mutation_p.C255Y|WDR25_ENST00000542471.2_5'Flank	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	255										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				ATTCAGTGGTGTCCAGTCCTT	0.448																																							0											0													54	52	53					14																	100848025		2203	4300	6503	SO:0001583	missense	0			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.764G>A	14.37:g.100848025G>A	ENSP00000334148:p.Cys255Tyr		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C255Y	ENST00000335290.6	37	c.764	CCDS32157.1	14	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970925	0.74246	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.60040	5.03;5.03;5.03;0.22	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.221359	0.38605	N	0.001621	T	0.68842	0.3045	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62859	-0.6765	10	0.26408	T	0.33	-22.834	16.8544	0.86002	0.0:0.0:1.0:0.0	.	255	Q64LD2	WDR25_HUMAN	Y	255	ENSP00000450661:C255Y;ENSP00000385540:C255Y;ENSP00000334148:C255Y;ENSP00000450727:C255Y	ENSP00000334148:C255Y	C	+	2	0	WDR25	99917778	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	7.275000	0.78548	2.711000	0.92665	0.655000	0.94253	TGT	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.448	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WDR25	protein_coding	OTTHUMT00000414312.1	63	195	0	0.00	0	0	G	NM_024515	0	0		100848025	1	no_errors	ENST00000335290	ensembl	human	known	74_37	missense	37	167	24.49	24.77	12	55	SNP	1	A	A	100848025	G	A	100848025	3	1	97	1	0	0	0	0	1	0	0	0	17279	1377	48	3	766	3	WDR25	14	100848025	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	52933	100848025	6501515	521	1720											
KIAA0284	283638	genome.wustl.edu	37	chr14	105353222	105353223	+	Frame_Shift_Ins	INS	-	-	C																															gtcccccagcgcccggcaagINScccccccacatctccagcca																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:105353222_105353223insC	ENST00000414716.3	+	12	2874_2875	c.2646_2647insC	c.(2647-2649)cccfs	p.P883fs	CEP170B_ENST00000418279.1_Frame_Shift_Ins_p.P813fs|CEP170B_ENST00000556508.1_Frame_Shift_Ins_p.P813fs|CEP170B_ENST00000453495.1_Frame_Shift_Ins_p.P884fs	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	883						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CGCCCGGCAAGCCCCCCCACAT	0.673																																							0											0																																										SO:0001589	frameshift_variant	0			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.2653dupC	14.37:g.105353229_105353229dupC	ENSP00000404151:p.Pro883fs		Q2KHR7|Q86TI7	Frame_Shift_Ins	INS	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.H885fs	ENST00000414716.3	37	c.2649_2650	CCDS45175.1	14																																																																																			0	NULL		0.673	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	protein_coding	OTTHUMT00000410289.2	52	113	0	0.00	0	0	0	NM_001112726	0	0		105353223	1	no_errors	ENST00000453495	ensembl	human	known	74_37	frame_shift_ins	37	83	33.93	26.55	19	30	INS	0.910:0.969	C	C	105353223	-	C	105353222	7	5	97	1	0	1	1	0	0	0	0	0	8166	962	34	0	2688	0	KIAA0284	14	105353222	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	4505197	105353222	1996318	522	1721											
AHNAK2	113146	genome.wustl.edu	37	chr14	105419322	105419322	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcagtcacctccttgtcGgccagggacaggtccccctc	5	9	11	16	1	1	0	1	0	0	0	5	1	3	1	5	4	0	1	5	4	0	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:105419322G>A	ENST00000333244.5	-	7	2585	c.2466C>T	c.(2464-2466)gcC>gcT	p.A822A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	822						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)			CCTCCTTGTCGGCCAGGGACA	0.607																																							0											0													207	229	222					14																	105419322		1938	4138	6076	SO:0001819	synonymous_variant	0			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.2466C>T	14.37:g.105419322G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A822	ENST00000333244.5	37	c.2466	CCDS45177.1	14																																																																																			0	NULL		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	94	2	0	0.00	0	0	G	NM_138420	0	0		105419322	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	silent	48	4	18.64	33.33	11	2	SNP	0	A	A	105419322	G	A	105419322	2	1	97	1	0	0	0	0	0	0	0	1	415	1103	39	2		2	AHNAK2	14	105419322	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	66100	105419322	1930218	523	1722											
HERC2	8924	genome.wustl.edu	37	chr15	28441399	28441399	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtatgcctggtattgTgttttttggtcttgaaacac	9	17	9	6	0	1	1	0	1	1	0	1	1	1	1	1	2	2	3	1	2	4	7			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:28441399T>A	ENST00000261609.7	-	52	8330	c.8222A>T	c.(8221-8223)cAc>cTc	p.H2741L		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)		CCTGGTATTGTGTTTTTTGGT	0.353																																							0											0													22	21	21					15																	28441399		2163	4250	6413	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8222A>T	15.37:g.28441399T>A	ENSP00000261609:p.His2741Leu			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.H2741L	ENST00000261609.7	37	c.8222	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959018	0.74016	.	.	ENSG00000128731	ENST00000261609	D	0.91407	-2.84	5.3	5.3	0.74995	Zinc finger, ZZ-type (3);Galactose-binding domain-like (1);	0.057143	0.64402	D	0.000004	D	0.95446	0.8521	M	0.88377	2.95	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.995	D	0.94488	0.7699	10	0.17369	T	0.5	.	15.5337	0.75986	0.0:0.0:0.0:1.0	.	208;2741	A8KAQ8;O95714	.;HERC2_HUMAN	L	2741	ENSP00000261609:H2741L	ENSP00000261609:H2741L	H	-	2	0	HERC2	26114994	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.140000	0.66376	0.397000	0.26171	CAC	0	pfam_Znf_ZZ,superfamily_Galactose-bd-like,smart_Znf_ZZ,pfscan_Znf_ZZ		0.353	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	233	126	0	0.00	0	0	T	NM_004667	0	0		28441399	-1	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	131	95	31.05	34.48	59	50	SNP	1	A	A	28441399	T	A	28441399	3	1	97	1	0	0	0	0	1	0	0	0	7058	1696	59	5	6450	5	HERC2	15	28441399	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09		28441399	74089993	524	1723											
FMN1	342184	genome.wustl.edu	37	chr15	33357216	33357216	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttttgtctttgggggtggCcagacagcttgaagtctgcc	5	14	13	9	0	3	2	0	1	3	1	3	2	3	2	2	3	2	1	2	3	1	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:33357216C>T	ENST00000559047.1	-	3	2102	c.2103G>A	c.(2101-2103)tgG>tgA	p.W701*	FMN1_ENST00000558197.1_Nonsense_Mutation_p.W478*|FMN1_ENST00000559150.1_5'UTR|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Nonsense_Mutation_p.W478*			Q68DA7	FMN1_HUMAN	formin 1	701	Mediates interaction with alpha-catenin. {ECO:0000250}.				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)		TTGGGGGTGGCCAGACAGCTT	0.493																																							0											0													205	201	202					15																	33357216		1908	4121	6029	SO:0001587	stop_gained	0			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.2103G>A	15.37:g.33357216C>T	ENSP00000454047:p.Trp701*		Q3B7I6|Q3ZAR4|Q6ZSY1	Nonsense_Mutation	SNP	pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam	p.W478*	ENST00000559047.1	37	c.1434		15	.	.	.	.	.	.	.	.	.	.	C	39	7.357126	0.98235	.	.	ENSG00000248905	ENST00000334528	.	.	.	6.04	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7629	0.85517	0.1302:0.8698:0.0:0.0	.	.	.	.	X	478	.	ENSP00000333950:W478X	W	-	3	0	FMN1	31144508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.805000	0.75191	1.554000	0.49487	0.561000	0.74099	TGG	0	prints_Formin_Cappuccino_subfam		0.493	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	protein_coding	OTTHUMT00000417414.1	90	192	0	0.00	0	0	C	NM_001103184	0	0		33357216	-1	no_errors	ENST00000334528	ensembl	human	known	74_37	nonsense	43	169	39.44	32.40	28	81	SNP	1	T	T	33357216	C	T	33357216	4	4	97	1	0	0	0	0	0	1	0	0	5949	740	26	3	2220	3	FMN1	15	33357216	Nonsense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	4915817	33357216	69174176	525	1724											
BAHD1	22893	genome.wustl.edu	37	chr15	40754411	40754411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacgtgtccagcgccCacgccctcgccgccgccgtc	4	4	11	22	7	0	0	0	0	0	0	3	0	1	0	7	0	2	1	7	0	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:40754411C>A	ENST00000416165.1	+	3	1804	c.1733C>A	c.(1732-1734)cCa>cAa	p.P578Q	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.P578Q|BAHD1_ENST00000561234.1_Missense_Mutation_p.P577Q	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	578	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)		GTCCAGCGCCCACGCCCTCGC	0.642																																							0											0													55	62	60					15																	40754411		2186	4264	6450	SO:0001583	missense	0			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.1733C>A	15.37:g.40754411C>A	ENSP00000396976:p.Pro578Gln		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P578Q	ENST00000416165.1	37	c.1733	CCDS10058.1	15	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463834	0.43736	.	.	ENSG00000140320	ENST00000416165	T	0.18960	2.18	4.35	4.35	0.52113	.	0.000000	0.48286	D	0.000200	T	0.13756	0.0333	N	0.08118	0	0.29582	N	0.849111	P;P;P	0.50528	0.936;0.895;0.936	P;B;P	0.47645	0.553;0.351;0.553	T	0.03969	-1.0988	10	0.22706	T	0.39	-10.2038	12.6799	0.56916	0.0:1.0:0.0:0.0	.	578;578;577	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	Q	578	ENSP00000396976:P578Q	ENSP00000396976:P578Q	P	+	2	0	BAHD1	38541703	0.910000	0.30920	0.994000	0.49952	0.613000	0.37349	3.013000	0.49582	2.728000	0.93425	0.585000	0.79938	CCA	0	NULL		0.642	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	protein_coding	OTTHUMT00000252248.1	27	46	3.57	0.00	1	0	C	NM_014952	0	0		40754411	1	no_errors	ENST00000416165	ensembl	human	known	74_37	missense	12	37	42.86	25.49	9	13	SNP	1	A	A	40754411	C	A	40754411	3	1	97	1	0	0	0	0	1	0	0	0	1297	594	21	5	1739	5	BAHD1	15	40754411	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7397195	40754411	61776981	526	1725											
RTF1	23168	genome.wustl.edu	37	chr15	41768665	41768665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtaaaagagaaagaaaggTtcagaaaagctccacccaac	19	6	8	8	0	1	3	1	0	0	3	2	4	2	3	2	1	2	3	2	1	7	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:41768665T>C	ENST00000389629.4	+	12	1516	c.1504T>C	c.(1504-1506)Ttc>Ctc	p.F502L		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	502					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)		GAAAGAAAGGTTCAGAAAAGC	0.433																																							0											0													132	122	126					15																	41768665		2203	4300	6503	SO:0001583	missense	0			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.1504T>C	15.37:g.41768665T>C	ENSP00000374280:p.Phe502Leu		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.F502L	ENST00000389629.4	37	c.1504	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	T	32	5.139745	0.94560	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.76727	2.345	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.71642	-0.4531	9	0.14252	T	0.57	-10.7156	15.8085	0.78534	0.0:0.0:0.0:1.0	.	502	Q92541	RTF1_HUMAN	L	502	.	ENSP00000374280:F502L	F	+	1	0	RTF1	39555957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.825000	0.86693	2.134000	0.65973	0.533000	0.62120	TTC	0	NULL		0.433	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	protein_coding	OTTHUMT00000258111.1	112	268	0	0.00	0	0	T	NM_015138	0	0		41768665	1	no_errors	ENST00000389629	ensembl	human	known	74_37	missense	65	205	26.14	27.05	23	76	SNP	1	C	C	41768665	T	C	41768665	3	2	97	1	0	0	0	0	1	0	0	0	13721	1725	60	3	1550	3	RTF1	15	41768665	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	1014254	41768665	60762727	527	1726											
TP53BP1	7158	genome.wustl.edu	37	chr15	43714075	43714075	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttttcctgggcctcctcGggagctgggtaaggcaaaat	8	10	13	10	1	0	0	0	0	0	0	3	1	2	1	3	4	1	4	3	4	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:43714075G>T	ENST00000263801.3	-	19	4315	c.4063C>A	c.(4063-4065)Cga>Aga	p.R1355R	TP53BP1_ENST00000382044.4_Silent_p.R1360R|TP53BP1_ENST00000450115.2_Silent_p.R1360R|TP53BP1_ENST00000382039.3_Silent_p.R1360R	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1355					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)		GGGCCTCCTCGGGAGCTGGGT	0.567								Other conserved DNA damage response genes																															0											0													61	64	63					15																	43714075		2201	4298	6499	SO:0001819	synonymous_variant	0			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.4063C>A	15.37:g.43714075G>T			F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.R1360	ENST00000263801.3	37	c.4078	CCDS10096.1	15																																																																																			0	NULL		0.567	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	protein_coding	OTTHUMT00000132897.3	27	214	0	0.93	0	2	G		0	0		43714075	-1	no_errors	ENST00000382044	ensembl	human	known	74_37	silent	19	177	20.83	24.58	5	58	SNP	1	T	T	43714075	G	T	43714075	2	4	97	1	0	0	0	0	0	0	0	1	16380	1124	39	5		5	TP53BP1	15	43714075	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1945410	43714075	58817317	528	1727											
C15orf63	25764	genome.wustl.edu	37	chr15	44093946	44093946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcgagcagcagcagaacGcagtttgcgggaacacatgg	12	6	13	10	3	1	1	0	0	1	1	2	3	1	2	0	2	6	5	0	2	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:44093946G>A	ENST00000406925.1	+	5	4443	c.332G>A	c.(331-333)cGc>cAc	p.R111H	SERF2_ENST00000594896.1_Missense_Mutation_p.R157H|RP11-296A16.1_ENST00000417761.2_5'Flank|HYPK_ENST00000458412.1_3'UTR|SERINC4_ENST00000299969.6_5'Flank|SERINC4_ENST00000249714.3_5'Flank|HYPK_ENST00000442995.2_Missense_Mutation_p.R111H|SERF2_ENST00000600633.1_Missense_Mutation_p.R111H|SERINC4_ENST00000319327.6_5'Flank			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	111						cytoplasm (GO:0005737)|nucleus (GO:0005634)							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;8.1e-07)		GCAGCAGAACGCAGTTTGCGG	0.443																																							0											0													97	90	93					15																	44093946		2198	4298	6496	SO:0001583	missense	0			AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"Huntingtin yeast partner K"	612784	"chromosome 15 open reading frame 63"	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.332G>A	15.37:g.44093946G>A	ENSP00000384474:p.Arg111His		C9JKJ0|O75408|Q8WUW8|Q9P024	Missense_Mutation	SNP	NULL	p.R157H	ENST00000406925.1	37	c.470	CCDS10104.1	15	.	.	.	.	.	.	.	.	.	.	G	38	6.639933	0.97726	.	.	ENSG00000242028	ENST00000406925;ENST00000442995	T;T	0.53640	0.61;0.61	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.63113	0.911	T	0.71048	-0.4705	10	0.72032	D	0.01	-14.5118	19.2408	0.93881	0.0:0.0:1.0:0.0	.	111	Q9NX55	HYPK_HUMAN	H	111	ENSP00000384474:R111H;ENSP00000401155:R111H	ENSP00000384474:R111H	R	+	2	0	C15orf63	41881238	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.601000	0.98297	2.785000	0.95823	0.655000	0.94253	CGC	0	NULL		0.443	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SERF2	protein_coding	OTTHUMT00000133876.3	65	145	0	0.00	0	0	G	NM_016400	0	0		44093946	1	no_errors	ENST00000594896	ensembl	human	known	74_37	missense	33	126	32.65	31.52	16	58	SNP	1	A	A	44093946	G	A	44093946	3	1	97	1	0	0	0	0	1	0	0	0	1809	1087	38	1	346	1	C15orf63	15	44093946	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	379871	44093946	58437446	529	1728											
DUOX1	53905	genome.wustl.edu	37	chr15	45442869	45442869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcaaggacctctgccggcGagcctcctacatcagccagg	9	6	10	16	2	3	0	2	0	1	0	4	2	4	1	5	3	4	0	5	3	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:45442869G>A	ENST00000321429.4	+	23	3265	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R953Q|DUOX1_ENST00000561166.1_Missense_Mutation_p.R599Q|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	953					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)		CTCTGCCGGCGAGCCTCCTAC	0.607																																							0											0													57	52	54					15																	45442869		2198	4298	6496	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2858G>A	15.37:g.45442869G>A	ENSP00000317997:p.Arg953Gln		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.R953Q	ENST00000321429.4	37	c.2858	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338456	0.81911	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85484	-1.99;-1.99	5.63	5.63	0.86233	.	0.288605	0.31589	N	0.007382	D	0.89008	0.6593	M	0.62723	1.935	0.41587	D	0.98877	D;D	0.64830	0.994;0.963	P;P	0.58077	0.832;0.552	D	0.86170	0.1599	10	0.21014	T	0.42	-9.0895	17.1598	0.86801	0.0:0.0:1.0:0.0	.	86;953	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	Q	953	ENSP00000317997:R953Q;ENSP00000373689:R953Q	ENSP00000317997:R953Q	R	+	2	0	DUOX1	43230161	0.999000	0.42202	0.967000	0.41034	0.958000	0.62258	4.859000	0.62954	2.646000	0.89796	0.561000	0.74099	CGA	0	NULL		0.607	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	protein_coding	OTTHUMT00000416251.1	26	90	0	0.00	0	0	G	NM_017434	0	0		45442869	1	no_errors	ENST00000321429	ensembl	human	known	74_37	missense	14	44	12.5	34.33	2	23	SNP	0.987	A	A	45442869	G	A	45442869	3	1	97	1	0	0	0	0	1	0	0	0	4800	1058	37	2	2940	2	DUOX1	15	45442869	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1348923	45442869	57088523	530	1729											
CGNL1	84952	genome.wustl.edu	37	chr15	57809086	57809086	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgagaagctgcagggaagaAgcgaagagctggagcggaga	15	3	18	5	2	0	4	0	1	0	4	0	9	0	6	0	3	5	3	0	3	4	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:57809086A>C	ENST00000281282.5	+	9	2590	c.2512A>C	c.(2512-2514)Agc>Cgc	p.S838R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	838						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)		GCAGGGAAGAAGCGAAGAGCT	0.557																																							0											0													68	62	64					15																	57809086		2192	4292	6484	SO:0001583	missense	0			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.2512A>C	15.37:g.57809086A>C	ENSP00000281282:p.Ser838Arg		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.S838R	ENST00000281282.5	37	c.2512	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408992	0.25378	.	.	ENSG00000128849	ENST00000281282	T	0.77877	-1.13	4.68	-2.08	0.07254	.	0.896444	0.09439	N	0.802022	T	0.55353	0.1915	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.43893	-0.9363	10	0.72032	D	0.01	-0.7137	7.1213	0.25446	0.2189:0.4233:0.3578:0.0	.	838	Q0VF96	CGNL1_HUMAN	R	838	ENSP00000281282:S838R	ENSP00000281282:S838R	S	+	1	0	CGNL1	55596378	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.585000	0.05794	-0.459000	0.07013	0.460000	0.39030	AGC	0	prints_Tropomyosin		0.557	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	protein_coding	OTTHUMT00000255482.2	46	81	0	0.00	0	0	A	NM_032866	0	0		57809086	1	no_errors	ENST00000281282	ensembl	human	known	74_37	missense	18	58	35.71	24.68	10	19	SNP	0	C	C	57809086	A	C	57809086	3	2	97	1	0	0	0	0	1	0	0	0	3304	72	3	5	2542	5	CGNL1	15	57809086	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	12366217	57809086	44722306	531	1730											
VPS13C	54832	genome.wustl.edu	37	chr15	62300907	62300907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgtatttcctataaggCgcattcctaaccatataatc	11	14	6	10	1	0	0	0	0	0	0	3	0	2	0	3	2	1	3	3	2	6	9			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:62300907C>T	ENST00000261517.5	-	14	1138	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	VPS13C_ENST00000395896.4_Silent_p.A355A|VPS13C_ENST00000249837.3_Silent_p.A312A|VPS13C_ENST00000395898.3_Silent_p.A312A	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						TCCTATAAGGCGCATTCCTAA	0.289																																							0											0													110	84	93					15																	62300907		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1065G>A	15.37:g.62300907C>T				Silent	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.A355	ENST00000261517.5	37	c.1065	CCDS32257.1	15																																																																																			0	NULL		0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	protein_coding	OTTHUMT00000415997.1	123	301	0	0.00	0	0	C	NM_017684	0	0		62300907	-1	no_errors	ENST00000261517	ensembl	human	known	74_37	silent	47	254	32.86	28.77	23	103	SNP	0.519	T	T	62300907	C	T	62300907	2	4	97	1	0	0	0	0	0	0	0	1	17188	755	27	1		1	VPS13C	15	62300907	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	4491821	62300907	40230485	532	1731											
HERC1	8925	genome.wustl.edu	37	chr15	63967237	63967237	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgtcaggcctcggaatcGcgccacatcaaacggcaatg	11	5	11	14	5	2	0	2	0	0	0	4	1	2	1	3	3	2	1	3	3	3	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:63967237G>A	ENST00000443617.2	-	38	7237	c.7150C>T	c.(7150-7152)Cga>Tga	p.R2384*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2384					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						CCTCGGAATCGCGCCACATCA	0.463																																							0											0													106	102	104					15																	63967237		2038	4199	6237	SO:0001587	stop_gained	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7150C>T	15.37:g.63967237G>A	ENSP00000390158:p.Arg2384*		Q8IW65	Nonsense_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.R2384*	ENST00000443617.2	37	c.7150	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	47	13.743661	0.99760	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.51	4.53	0.55603	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4547	0.75302	0.0:0.0:0.8145:0.1855	.	.	.	.	X	2384	.	ENSP00000390158:R2384X	R	-	1	2	HERC1	61754290	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.792000	0.47837	2.589000	0.87451	0.650000	0.86243	CGA	0	NULL		0.463	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	42	160	0	0.00	0	0	G	NM_003922	0	0		63967237	-1	no_errors	ENST00000443617	ensembl	human	known	74_37	nonsense	40	108	21.57	32.92	11	53	SNP	0.976	A	A	63967237	G	A	63967237	4	1	97	1	0	0	0	0	0	1	0	0	7057	1095	38	1	7599	1	HERC1	15	63967237	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1666330	63967237	38564155	533	1732											
SNX1	6642	genome.wustl.edu	37	chr15	64424072	64424072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgagtgactacattcGcctcctggccatagtccgcg	6	10	10	15	3	0	2	0	2	0	0	4	2	3	2	5	1	1	1	5	1	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:64424072G>A	ENST00000559844.1	+	11	1216	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	SNX1_ENST00000261889.5_Missense_Mutation_p.R401H|SNX1_ENST00000353874.4_Missense_Mutation_p.R401H|SNX1_ENST00000561026.1_Missense_Mutation_p.R336H|SNX1_ENST00000560829.1_Missense_Mutation_p.R183H|SNX1_ENST00000559339.1_3'UTR			Q13596	SNX1_HUMAN	sorting nexin 1	401	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|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)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GACTACATTCGCCTCCTGGCC	0.498																																							0											0													115	106	109					15																	64424072		2203	4300	6503	SO:0001583	missense	0			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1202G>A	15.37:g.64424072G>A	ENSP00000453785:p.Arg401His		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R401H	ENST00000559844.1	37	c.1202	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889599	0.91889	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.49720	0.77	5.2	5.2	0.72013	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	M	0.89414	3.03	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	0.83275	0.993;0.995;0.993;0.993;0.996;0.987;0.993	T	0.76937	-0.2774	10	0.48119	T	0.1	-22.0774	17.4583	0.87613	0.0:0.0:1.0:0.0	.	401;311;401;401;336;401;401	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;.;SNX1_HUMAN	H	401;401;336	ENSP00000326668:R401H	ENSP00000261889:R336H	R	+	2	0	SNX1	62211125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.625000	0.98406	2.693000	0.91896	0.561000	0.74099	CGC	0	pfam_Vps5_C		0.498	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	protein_coding	OTTHUMT00000418559.1	39	190	0	0.00	0	0	G	NM_003099	0	0		64424072	1	no_errors	ENST00000559844	ensembl	human	known	74_37	missense	19	146	36.67	32.09	11	69	SNP	1	A	A	64424072	G	A	64424072	3	1	97	1	0	0	0	0	1	0	0	0	14880	1087	38	1	1244	1	SNX1	15	64424072	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	456835	64424072	38107320	534	1733											
TIPIN	54962	genome.wustl.edu	37	chr15	66645207	66645207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctggagaggctggaggtgGgaaaggaggaaaagtttcat	12	8	17	4	0	2	1	1	0	1	1	2	6	2	5	0	7	0	2	0	7	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:66645207G>T	ENST00000261881.4	-	2	164	c.79C>A	c.(79-81)Cca>Aca	p.P27T	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	27					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						GCTGGAGGTGGGAAAGGAGGA	0.463																																							0											0													108	97	101					15																	66645207		2201	4299	6500	SO:0001583	missense	0			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"CSM3 homolog (S. cerevisiae)"	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.79C>A	15.37:g.66645207G>T	ENSP00000261881:p.Pro27Thr		B2CW64|Q9NWZ6	Missense_Mutation	SNP	pfam_Swi3	p.P27T	ENST00000261881.4	37	c.79	CCDS10215.1	15	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188559	0.78789	.	.	ENSG00000075131	ENST00000261881	T	0.14144	2.53	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	P	0.62435	0.902	T	0.05338	-1.0891	10	0.66056	D	0.02	-9.8553	16.5875	0.84731	0.0:0.0:1.0:0.0	.	27	Q9BVW5	TIPIN_HUMAN	T	27	ENSP00000261881:P27T	ENSP00000261881:P27T	P	-	1	0	TIPIN	64432261	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.609000	0.82925	2.306000	0.77630	0.462000	0.41574	CCA	0	NULL		0.463	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIPIN	protein_coding	OTTHUMT00000256897.2	84	47	0	0.00	0	0	G	NM_017858	0	0		66645207	-1	no_errors	ENST00000261881	ensembl	human	known	74_37	missense	44	50	29.03	33.33	18	25	SNP	1	T	T	66645207	G	T	66645207	3	4	97	1	0	0	0	0	1	0	0	0	15922	1232	43	5	854	5	TIPIN	15	66645207	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2221135	66645207	35886185	535	1734											
ITGA11	22801	genome.wustl.edu	37	chr15	68612623	68612623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtgtggcctccaccGccactcgctggcgtgtgctc	3	10	11	17	3	1	0	0	0	1	0	5	0	2	0	5	2	1	2	5	2	0	0	rs200675726		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:68612623G>A	ENST00000315757.7	-	20	2602	c.2516C>T	c.(2515-2517)gCg>gTg	p.A839V	ITGA11_ENST00000423218.2_Missense_Mutation_p.A839V	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	839					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						GGCCTCCACCGCCACTCGCTG	0.582																																							0											0													41	46	44					15																	68612623		2102	4237	6339	SO:0001583	missense	0			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.2516C>T	15.37:g.68612623G>A	ENSP00000327290:p.Ala839Val		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.A839V	ENST00000315757.7	37	c.2516	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	G	2.539	-0.306791	0.05458	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.42513	0.97;0.97	5.41	5.41	0.78517	Integrin alpha-2 (1);	0.154150	0.64402	D	0.000020	T	0.29850	0.0746	N	0.21373	0.66	0.43421	D	0.995576	P;P	0.36483	0.555;0.549	B;B	0.33890	0.172;0.065	T	0.06427	-1.0827	10	0.15499	T	0.54	.	18.1723	0.89749	0.0:0.0:1.0:0.0	.	839;839	A8K8T0;Q9UKX5	.;ITA11_HUMAN	V	839;839;474	ENSP00000327290:A839V;ENSP00000403392:A839V	ENSP00000327290:A839V	A	-	2	0	ITGA11	66399677	1.000000	0.71417	0.971000	0.41717	0.244000	0.25665	5.387000	0.66243	2.541000	0.85698	0.561000	0.74099	GCG	0	pfam_Integrin_alpha-2		0.582	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	protein_coding		19	68	0	0.00	0	0	G	NM_012211	rs200675726	G->A		68612623	-1	no_errors	ENST00000315757	ensembl	human	known	74_37	missense	8	58	33.33	28.40	4	23	SNP	0.988	A	A	68612623	G	A	68612623	3	1	97	1	0	0	0	0	1	0	0	0	7874	1087	38	1	1094	1	ITGA11	15	68612623	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1967416	68612623	33918769	536	1735											
SCAMP2	10066	genome.wustl.edu	37	chr15	75137863	75137863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagggtgaagaagccaGccaccaccatcatgatgact	14	5	10	12	0	1	5	1	3	0	2	1	5	1	5	4	1	2	0	4	1	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:75137863G>A	ENST00000268099.9	-	8	915	c.806C>T	c.(805-807)gCt>gTt	p.A269V	ULK3_ENST00000569437.1_5'Flank|ULK3_ENST00000440863.2_5'Flank|ULK3_ENST00000568667.1_5'Flank	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	269					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						GAAGAAGCCAGCCACCACCAT	0.567																																							0											0													174	150	158					15																	75137863		2197	4295	6492	SO:0001583	missense	0			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.806C>T	15.37:g.75137863G>A	ENSP00000268099:p.Ala269Val		B2RDF0|Q9BQE8	Missense_Mutation	SNP	pfam_SCAMP	p.A269V	ENST00000268099.9	37	c.806	CCDS10271.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.432743	0.96150	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.19394	2.15	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.59888	-0.7369	10	0.33940	T	0.23	.	17.1164	0.86690	0.0:0.0:1.0:0.0	.	269;238	O15127;B3KU14	SCAM2_HUMAN;.	V	269;238	ENSP00000268099:A269V	ENSP00000268099:A269V	A	-	2	0	SCAMP2	72924916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.797000	0.99108	2.273000	0.75805	0.585000	0.79938	GCT	0	pfam_SCAMP		0.567	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP2	protein_coding	OTTHUMT00000286403.3	28	115	0	0.00	0	0	G	NM_005697	0	0		75137863	-1	no_errors	ENST00000268099	ensembl	human	known	74_37	missense	12	86	33.33	26.50	6	31	SNP	1	A	A	75137863	G	A	75137863	3	1	97	1	0	0	0	0	1	0	0	0	13871	971	34	3	191	3	SCAMP2	15	75137863	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	6525240	75137863	27393529	537	1736											
C15orf39	56905	genome.wustl.edu	37	chr15	75499654	75499654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgccagcctttgccagCgagccagccctgctcagagc	7	6	12	16	1	1	1	1	0	0	1	1	2	1	1	5	1	8	2	5	1	0	1	rs149666825	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:75499654C>T	ENST00000360639.2	+	2	1585	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	C15orf39_ENST00000567617.1_Missense_Mutation_p.A422V|C15orf39_ENST00000394987.4_Missense_Mutation_p.A422V			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	422						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTTTGCCAGCGAGCCAGCCC	0.642													C|||	2	0.000399361	0.0015	0	5008	,	,		15909	0		0	False		,,,				2504	0						0.9996,0.0003994											0								C	VAL/ALA	1,4393	2.1+/-5.4	0,1,2196	40	44	43		1265	4	0.4	15	dbSNP_134	43	1,8589		0,1,4294	yes	missense	C15orf39	NM_015492.4	64	0,2,6490	TT,TC,CC		0.0116,0.0228,0.0154	probably-damaging	422/1048	75499654	2,12982	2197	4295	6492	SO:0001583	missense	0			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.1265C>T	15.37:g.75499654C>T	ENSP00000353854:p.Ala422Val		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	NULL	p.A422V	ENST00000360639.2	37	c.1265	CCDS10276.1	15	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768857	0.31320	2.28E-4	1.16E-4	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.62788	-0.0;-0.0	4.89	3.95	0.45737	.	0.262596	0.29145	N	0.013001	T	0.57873	0.2083	L	0.60455	1.87	0.09310	N	1	D	0.54772	0.968	B	0.44108	0.441	T	0.58098	-0.7696	10	0.59425	D	0.04	-12.0092	9.7819	0.40653	0.0:0.722:0.278:0.0	.	422	Q6ZRI6	CO039_HUMAN	V	422	ENSP00000353854:A422V;ENSP00000378438:A422V	ENSP00000353854:A422V	A	+	2	0	C15orf39	73286707	0.000000	0.05858	0.377000	0.26055	0.517000	0.34286	0.093000	0.15086	2.280000	0.76307	0.462000	0.41574	GCG	0	NULL		0.642	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	protein_coding	OTTHUMT00000286410.1	40	52	0	0.00	0	0	C	NM_015492	rs149666825	C->T		75499654	1	no_errors	ENST00000360639	ensembl	human	known	74_37	missense	20	28	33.33	20.00	10	7	SNP	0.008	T	T	75499654	C	T	75499654	3	4	97	1	0	0	0	0	1	0	0	0	1793	768	27	1	1267	1	C15orf39	15	75499654	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	361791	75499654	27031738	538	1737											
GOLGA6D	653643	genome.wustl.edu	37	chr15	75586105	75586105	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgaaggagaaggcggaCgggacggagcaggtggagag	11	2	20	8	4	0	2	0	0	0	2	1	8	1	5	1	7	1	1	1	7	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:75586105C>T	ENST00000434739.3	+	15	1670	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	543						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						AGAAGGCGGACGGGACGGAGC	0.612																																							0											0													1	1	1					15																	75586105		98	475	573	SO:0001819	synonymous_variant	0				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.1629C>T	15.37:g.75586105C>T				Silent	SNP	NULL	p.D543	ENST00000434739.3	37	c.1629	CCDS45308.1	15																																																																																			0	NULL		0.612	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6D	protein_coding	OTTHUMT00000419798.1	83	29	0	0.00	0	0	C	NM_001145224	0	0		75586105	1	no_errors	ENST00000434739	ensembl	human	known	74_37	silent	36	31	25	13.89	12	5	SNP	0.954	T	T	75586105	C	T	75586105	2	4	97	1	0	0	0	0	0	0	0	1	6560	535	19	1		1	GOLGA6D	15	75586105	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	86451	75586105	26945287	539	1738											
SIN3A	25942	genome.wustl.edu	37	chr15	75706642	75706642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcaagataagatagcGcatcctccacctgaggcagg	11	7	11	12	1	1	3	1	1	0	2	3	3	3	3	4	3	1	2	4	3	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:75706642G>A	ENST00000394947.3	-	4	691	c.377C>T	c.(376-378)gCg>gTg	p.A126V	SIN3A_ENST00000394949.4_Missense_Mutation_p.A126V|SIN3A_ENST00000360439.4_Missense_Mutation_p.A126V	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.A126V(2)		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						ATAAGATAGCGCATCCTCCAC	0.353																																							0											2	Substitution - Missense(2)	large_intestine(1)|prostate(1)											80	70	74					15																	75706642		2197	4294	6491	SO:0001583	missense	0			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.377C>T	15.37:g.75706642G>A	ENSP00000378402:p.Ala126Val			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.A126V	ENST00000394947.3	37	c.377	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.092524	0.94149	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.77750	-1.12;-1.12;-1.12	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.92964	0.7761	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94666	0.7852	10	0.54805	T	0.06	-17.3556	18.7528	0.91821	0.0:0.0:1.0:0.0	.	126	Q96ST3	SIN3A_HUMAN	V	126	ENSP00000378402:A126V;ENSP00000378403:A126V;ENSP00000353622:A126V	ENSP00000353622:A126V	A	-	2	0	SIN3A	73493695	1.000000	0.71417	0.981000	0.43875	0.727000	0.41649	9.775000	0.98995	2.671000	0.90904	0.585000	0.79938	GCG	0	superfamily_PAH		0.353	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	protein_coding	OTTHUMT00000286469.1	47	171	2.08	0.00	1	0	G	NM_015477	0	0		75706642	-1	no_errors	ENST00000360439	ensembl	human	known	74_37	missense	22	135	38.89	25.68	14	47	SNP	1	A	A	75706642	G	A	75706642	3	1	97	1	0	0	0	0	1	0	0	0	14325	1087	38	1	3516	1	SIN3A	15	75706642	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	120537	75706642	26824750	540	1739											
ACAN	176	genome.wustl.edu	37	chr15	89398410	89398410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaatctggggcccctgAtgtcagtggtgacttcacag	8	9	15	9	0	3	2	2	2	1	0	3	4	3	4	2	5	0	0	2	5	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:89398410A>G	ENST00000561243.1	+	11	2594	c.2594A>G	c.(2593-2595)gAt>gGt	p.D865G	ACAN_ENST00000352105.7_Missense_Mutation_p.D865G|ACAN_ENST00000559004.1_Missense_Mutation_p.D865G|ACAN_ENST00000439576.2_Missense_Mutation_p.D865G			P16112	PGCA_HUMAN	aggrecan	864	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)			GGGGCCCCTGATGTCAGTGGT	0.602																																							0											0													49	55	53					15																	89398410		2002	4172	6174	SO:0001583	missense	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2594A>G	15.37:g.89398410A>G	ENSP00000453342:p.Asp865Gly		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.D865G	ENST00000561243.1	37	c.2594	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	A	12.26	1.883533	0.33255	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02812	4.41;4.15	5.79	3.29	0.37713	.	0.238709	0.21660	N	0.071038	T	0.03871	0.0109	N	0.22421	0.69	0.09310	N	1	D;D	0.67145	0.996;0.996	P;P	0.58660	0.843;0.843	T	0.46665	-0.9175	10	0.32370	T	0.25	-3.1012	3.0589	0.06193	0.5202:0.0:0.2031:0.2767	.	865;865	E7ENV9;E7EX88	.;.	G	865	ENSP00000387356:D865G;ENSP00000341615:D865G	ENSP00000268134:D865G	D	+	2	0	ACAN	87199414	0.076000	0.21285	0.458000	0.27068	0.510000	0.34073	1.556000	0.36288	2.198000	0.70561	0.533000	0.62120	GAT	0	NULL		0.602	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	29	76	0	1.30	0	1	A	NM_001135	0	0		89398410	1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	23	60	14.81	26.83	4	22	SNP	0	G	G	89398410	A	G	89398410	3	3	97	1	0	0	0	0	1	0	0	0	117	333	12	3	2636	3	ACAN	15	89398410	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	13691768	89398410	13132982	541	1740											
FANCI	55215	genome.wustl.edu	37	chr15	89858550	89858550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgaagctcagcacctcacGagacttcaagatcaaaggaa	16	6	8	11	1	4	3	4	1	0	2	4	5	4	4	1	1	2	2	1	1	4	1	rs121918163		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:89858550G>A	ENST00000310775.7	+	37	3940	c.3854G>A	c.(3853-3855)cGa>cAa	p.R1285Q	FANCI_ENST00000300027.8_Missense_Mutation_p.R1225Q|FANCI_ENST00000566615.1_3'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1285			R -> Q (in FA/FANCI; abolishes function in DNA repair). {ECO:0000269|PubMed:17412408, ECO:0000269|PubMed:17452773}.		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)					AGCACCTCACGAGACTTCAAG	0.483								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														0											0			GRCh37	CM071754	FANCI	M	rs121918163						168	138	148					15																	89858550		2200	4299	6499	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3854G>A	15.37:g.89858550G>A	ENSP00000310842:p.Arg1285Gln		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.R1285Q	ENST00000310775.7	37	c.3854	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.549143	0.96488	.	.	ENSG00000140525	ENST00000300027;ENST00000310775	D;D	0.96427	-4.01;-4.01	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.98688	1.0695	10	0.87932	D	0	-11.2888	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1285;1224;1225	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	Q	1225;1285	ENSP00000300027:R1225Q;ENSP00000310842:R1285Q	ENSP00000300027:R1225Q	R	+	2	0	FANCI	87659554	1.000000	0.71417	0.093000	0.20910	0.996000	0.88848	9.430000	0.97488	2.713000	0.92767	0.655000	0.94253	CGA	0	NULL		0.483	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	protein_coding	OTTHUMT00000421140.1	52	143	0	0.00	0	0	G	NM_018193	rs121918163	G->A		89858550	1	no_errors	ENST00000310775	ensembl	human	known	74_37	missense	29	106	38.3	21.17	18	29	SNP	0.639	A	A	89858550	G	A	89858550	3	1	97	1	0	0	0	0	1	0	0	0	5669	1058	37	2	3996	2	FANCI	15	89858550	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	460140	89858550	12672842	542	1741											
MRPL28	10573	genome.wustl.edu	37	chr16	418359	418359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagtctctgcttctcaatgGcctcctccagcgtgaggccc	7	10	9	15	1	2	1	1	1	2	0	6	1	4	1	4	2	2	1	4	2	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:418359G>A	ENST00000199706.8	-	5	667	c.632C>T	c.(631-633)gCc>gTc	p.A211V	MRPL28_ENST00000389675.2_Missense_Mutation_p.A211V|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	211					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CTTCTCAATGGCCTCCTCCAG	0.622																																							0											0													99	89	92					16																	418359		2203	4300	6503	SO:0001583	missense	0			U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"Mitochondrial ribosomal proteins / large subunits"	14484	protein-coding gene	gene with protein product		604853	"melanoma-associated antigen recognised by cytotoxic T lymphocytes"	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.632C>T	16.37:g.418359G>A	ENSP00000199706:p.Ala211Val		B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Missense_Mutation	SNP	NULL	p.A211V	ENST00000199706.8	37	c.632	CCDS32349.1	16	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823871	0.71143	.	.	ENSG00000086504	ENST00000397735;ENST00000199706;ENST00000397734;ENST00000389675;ENST00000441883;ENST00000447696	T;T;T;T	0.62639	0.25;0.25;0.33;0.01	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86279	0.1666	10	0.87932	D	0	-14.3661	17.1129	0.86680	0.0:0.0:1.0:0.0	.	211;211	Q13084;Q4TT38	RM28_HUMAN;.	V	211	ENSP00000199706:A211V;ENSP00000374326:A211V;ENSP00000398684:A211V;ENSP00000390399:A211V	ENSP00000199706:A211V	A	-	2	0	MRPL28	358360	1.000000	0.71417	0.519000	0.27824	0.021000	0.10359	7.772000	0.85439	2.030000	0.59900	0.557000	0.71058	GCC	0	NULL		0.622	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL28	protein_coding	OTTHUMT00000139285.2	58	110	0	0.00	0	0	G		0	0		418359	-1	no_errors	ENST00000199706	ensembl	human	known	74_37	missense	54	101	22.86	28.67	16	41	SNP	1	A	A	418359	G	A	418359	3	1	97	1	0	0	0	0	1	0	0	0	9792	1203	42	3	146	3	MRPL28	16	418359	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09		418359	89936394	543	1742											
PKD1	5310	genome.wustl.edu	37	chr16	2168302	2168302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggccgccccacacaGgcaccagccctgctccgaga	7	3	13	18	2	0	1	0	0	0	1	1	2	1	1	6	3	2	3	6	3	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:2168302G>T	ENST00000262304.4	-	5	899	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.L231M	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	231	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558}.				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						GCCCCACACAGGCACCAGCCC	0.716																																							0											0													2	2	2					16																	2168302		1335	2555	3890	SO:0001583	missense	0			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.691C>A	16.37:g.2168302G>T	ENSP00000262304:p.Leu231Met		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.L231M	ENST00000262304.4	37	c.691	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	8.539	0.872718	0.17322	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.56275	0.47;0.47	4.96	2.54	0.30619	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);Polycystin cation channel (1);	0.000000	0.64402	D	0.000003	T	0.66567	0.2802	M	0.69823	2.125	0.37153	D	0.902252	D;P	0.76494	0.999;0.614	D;B	0.68192	0.956;0.079	T	0.73020	-0.4114	10	0.66056	D	0.02	.	10.2479	0.43352	0.0841:0.2572:0.6586:0.0	.	231;231	P98161-3;P98161	.;PKD1_HUMAN	M	231	ENSP00000262304:L231M;ENSP00000399501:L231M	ENSP00000262304:L231M	L	-	1	2	PKD1	2108303	1.000000	0.71417	0.980000	0.43619	0.062000	0.15995	1.023000	0.30065	1.071000	0.40834	0.444000	0.29173	CTG	0	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat		0.716	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	protein_coding	OTTHUMT00000341688.1	27	0	0	0.00	0	0	G		0	0		2168302	-1	no_errors	ENST00000262304	ensembl	human	known	74_37	missense	14	0	30	0.00	6	0	SNP	0.966	T	T	2168302	G	T	2168302	3	4	97	1	0	0	0	0	1	0	0	0	11963	991	35	5	12388	5	PKD1	16	2168302	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1749943	2168302	88186451	544	1743											
ZNF205	7755	genome.wustl.edu	37	chr16	3169491	3169491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggagccccaggagtaccGcgtcccggagaagcccaacg	10	2	13	16	5	0	1	0	0	0	1	1	4	1	3	5	3	4	1	5	3	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:3169491G>A	ENST00000382192.3	+	7	1035	c.830G>A	c.(829-831)cGc>cAc	p.R277H	RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R277H	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CAGGAGTACCGCGTCCCGGAG	0.706																																							0											0													17	23	21					16																	3169491		2175	4282	6457	SO:0001583	missense	0			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.830G>A	16.37:g.3169491G>A	ENSP00000371627:p.Arg277His		A8MZK0|D3DUB4|Q9BU95	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.R277H	ENST00000382192.3	37	c.830	CCDS10494.2	16	.	.	.	.	.	.	.	.	.	.	G	7.877	0.729366	0.15507	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000414351	T;T;T	0.09817	3.12;3.12;2.94	3.73	-7.45	0.01374	.	2.138260	0.02140	N	0.057108	T	0.03305	0.0096	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40040	-0.9584	10	0.02654	T	1	-1.0389	9.0795	0.36542	0.6572:0.1158:0.227:0.0	.	277	O95201	ZN205_HUMAN	H	277	ENSP00000371627:R277H;ENSP00000219091:R277H;ENSP00000403306:R277H	ENSP00000219091:R277H	R	+	2	0	ZNF205	3109492	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-1.664000	0.01966	-1.778000	0.01282	-0.672000	0.03802	CGC	0	NULL		0.706	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF205	protein_coding	OTTHUMT00000309057.1	30	31	0	0.00	0	0	G	NM_003456	0	0		3169491	1	no_errors	ENST00000219091	ensembl	human	known	74_37	missense	14	35	33.33	22.22	7	10	SNP	0	A	A	3169491	G	A	3169491	3	1	97	1	0	0	0	0	1	0	0	0	17761	1087	38	1	852	1	ZNF205	16	3169491	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1001189	3169491	87185262	545	1744											
ZNF213	7760	genome.wustl.edu	37	chr16	3191340	3191340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccaagatggcccagcccGtggggtgagcagctggcttg	7	6	16	12	2	0	2	0	1	0	1	0	2	0	2	3	4	3	3	3	4	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:3191340G>A	ENST00000396878.3	+	6	1847	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	ZNF213_ENST00000416391.2_Missense_Mutation_p.V300M|ZNF213_ENST00000574902.1_Missense_Mutation_p.V458M|CASP16_ENST00000428155.1_5'Flank|ZNF213_ENST00000576416.1_Missense_Mutation_p.V458M	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	458					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						GGCCCAGCCCGTGGGGTGAGC	0.667																																							0											0													16	18	18					16																	3191340		2167	4238	6405	SO:0001583	missense	0			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1372G>A	16.37:g.3191340G>A	ENSP00000380087:p.Val458Met		A8K1B9|B4DMG6|Q96IS1	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.V458M	ENST00000396878.3	37	c.1372	CCDS10495.1	16	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255575	0.39896	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.05855	3.39;3.38	5.09	4.13	0.48395	.	0.000000	0.34088	N	0.004279	T	0.04048	0.0113	N	0.14661	0.345	0.32701	N	0.512914	B	0.29590	0.25	B	0.21546	0.035	T	0.13683	-1.0500	10	0.59425	D	0.04	.	9.6272	0.39757	0.0975:0.0:0.9025:0.0	.	458	O14771	ZN213_HUMAN	M	458;300	ENSP00000380087:V458M;ENSP00000403892:V300M	ENSP00000380087:V458M	V	+	1	0	ZNF213	3131341	0.772000	0.28567	0.903000	0.35520	0.594000	0.36715	1.516000	0.35856	1.137000	0.42214	0.462000	0.41574	GTG	0	NULL		0.667	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF213	protein_coding	OTTHUMT00000437334.1	9	41	0	0.00	0	0	G	NM_004220	0	0		3191340	1	no_errors	ENST00000396878	ensembl	human	known	74_37	missense	8	29	50	29.27	8	12	SNP	0.98	A	A	3191340	G	A	3191340	3	1	97	1	0	0	0	0	1	0	0	0	17766	1145	40	1	1390	1	ZNF213	16	3191340	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	21849	3191340	87163413	546	1745											
C16orf68	79091	genome.wustl.edu	37	chr16	8738419	8738419	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggctggtttgcaggctcaActtcacattgagacacttgg	8	12	11	10	0	2	1	2	1	0	1	2	2	2	1	0	4	2	4	0	4	1	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:8738419A>C	ENST00000381920.3	+	10	1274	c.1016A>C	c.(1015-1017)aAc>aCc	p.N339T	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.N283T	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	339						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						TGCAGGCTCAACTTCACATTG	0.547																																							0											0													234	233	233					16																	8738419		2102	4228	6330	SO:0001583	missense	0			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"chromosome 16 open reading frame 68"	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.1016A>C	16.37:g.8738419A>C	ENSP00000371345:p.Asn339Thr		B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.N339T	ENST00000381920.3	37	c.1016	CCDS10533.2	16	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054789	0.75960	.	.	ENSG00000067365	ENST00000381920	T	0.41065	1.01	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.70275	2.135	0.58432	D	0.999996	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.96	T	0.65319	-0.6197	10	0.56958	D	0.05	-25.7982	12.9165	0.58209	1.0:0.0:0.0:0.0	.	114;339	Q9BUU2-3;Q9BUU2	.;MET22_HUMAN	T	339	ENSP00000371345:N339T	ENSP00000371345:N339T	N	+	2	0	METTL22	8645920	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.819000	0.86621	2.076000	0.62316	0.397000	0.26171	AAC	0	pfam_Nicotinamide_N-MeTfrase-like		0.547	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL22	protein_coding	OTTHUMT00000251901.1	53	138	0	0.00	0	0	A	NM_024109	0	0		8738419	1	no_errors	ENST00000381920	ensembl	human	known	74_37	missense	28	108	22.22	29.87	8	46	SNP	1	C	C	8738419	A	C	8738419	3	2	97	1	0	0	0	0	1	0	0	0	1827	43	2	5	1050	5	C16orf68	16	8738419	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	5547079	8738419	81616334	547	1746											
CLEC16A	23274	genome.wustl.edu	37	chr16	11097045	11097045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagacccaactacaaaaacGttggggaagaagaagatgag	19	4	12	6	1	0	5	0	1	0	4	0	7	0	6	1	2	3	1	1	2	7	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:11097045G>A	ENST00000409790.1	+	11	1416	c.1186G>A	c.(1186-1188)Gtt>Att	p.V396I	CLEC16A_ENST00000409552.3_Missense_Mutation_p.V394I	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						CTACAAAAACGTTGGGGAAGA	0.527																																							0											0													68	72	71					16																	11097045		1923	4131	6054	SO:0001583	missense	0			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.1186G>A	16.37:g.11097045G>A	ENSP00000387122:p.Val396Ile			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.V396I	ENST00000409790.1	37	c.1186	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059826	0.55325	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.45668	0.89	5.62	5.62	0.85841	.	0.195600	0.43747	D	0.000540	T	0.35451	0.0932	L	0.50333	1.59	0.80722	D	1	P;P	0.42357	0.734;0.777	B;B	0.33196	0.129;0.159	T	0.16689	-1.0394	10	0.16896	T	0.51	-13.4695	18.6399	0.91392	0.0:0.0:1.0:0.0	.	396;394	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	I	396;396;394	ENSP00000387122:V396I	ENSP00000386495:V394I	V	+	1	0	CLEC16A	11004546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.169000	0.71913	2.662000	0.90505	0.655000	0.94253	GTT	0	NULL		0.527	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	protein_coding	OTTHUMT00000328540.2	54	107	0	0.00	0	0	G	NM_015226	0	0		11097045	1	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	19	103	32.14	27.46	9	39	SNP	1	A	A	11097045	G	A	11097045	3	1	97	1	0	0	0	0	1	0	0	0	3500	1145	40	1	1224	1	CLEC16A	16	11097045	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2358626	11097045	79257708	548	1747											
ABCC6	368	genome.wustl.edu	37	chr16	16315498	16315498	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttccaggctcccagggatgGcagctaccatcttggctttg	6	11	12	12	0	1	0	0	0	1	0	3	1	3	1	3	4	2	5	3	4	1	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:16315498G>A	ENST00000205557.7	-	2	249				ABCC6_ENST00000574094.1_5'UTR|ABCC6_ENST00000575728.1_Missense_Mutation_p.A76V|RP11-517A5.7_ENST00000574883.1_RNA	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6						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)	CCCAGGGATGGCAGCTACCAT	0.582																																							0											0													27	26	26					16																	16315498		2197	4300	6497	SO:0001627	intron_variant	0			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.219+7C>T	16.37:g.16315498G>A			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	NULL	p.A76V	ENST00000205557.7	37	c.227	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	.	15.32	2.797876	0.50208	.	.	ENSG00000091262	ENST00000546056	.	.	.	4.35	0.896	0.19253	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.10450	0.002;0.005	T	0.21280	-1.0250	7	0.44086	T	0.13	.	6.4212	0.21744	0.3756:0.0:0.6244:0.0	.	76;76	F5GWQ0;Q8TCY8	.;.	V	76	.	ENSP00000441745:A76V	A	-	2	0	ABCC6	16222999	0.000000	0.05858	0.000000	0.03702	0.660000	0.38997	0.055000	0.14229	0.025000	0.15241	0.485000	0.47835	GCC	0	NULL		0.582	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	protein_coding	OTTHUMT00000252232.2	85	134	0	0.00	0	0	G		0	0		16315498	-1	no_errors	ENST00000575728	ensembl	human	putative	74_37	missense	52	108	25.71	34.15	18	56	SNP	0	A	A	16315498	G	A	16315498	1	1	97	0	1	0	0	0	0	0	0	0	57	1203	42	3		3	ABCC6	16	16315498	Intron	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	5218453	16315498	74039255	549	1748											
NOMO3	408050	genome.wustl.edu	37	chr16	16338949	16338949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagcaaagggcagcccctgGgtcctgcgggagttcaggtg	7	7	16	11	1	2	0	2	0	0	0	3	1	3	1	3	4	3	3	3	4	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:16338949G>T	ENST00000399336.4	+	5	599	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C	NOMO3_ENST00000263012.6_Missense_Mutation_p.G143C|NOMO3_ENST00000538468.1_Intron	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	143						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCAGCCCCTGGGTCCTGCGGG	0.567																																							0											0													1	2	2					16																	16338949		958	2639	3597	SO:0001583	missense	0			AK125530	CCDS42123.1	16p13	2004-11-24				ENSG00000103226			25242	protein-coding gene	gene with protein product		609159				15257293	Standard	NM_001004067		Approved		uc002deq.3	P69849	OTTHUMG00000170525	ENST00000399336.4:c.427G>T	16.37:g.16338949G>T	ENSP00000382274:p.Gly143Cys			Missense_Mutation	SNP	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom	p.G143C	ENST00000399336.4	37	c.427	CCDS42123.1	16	.	.	.	.	.	.	.	.	.	.	.	17.14	3.314389	0.60414	.	.	ENSG00000103226	ENST00000263012;ENST00000399336	T;T	0.12147	2.71;2.74	3.33	3.33	0.38152	Carboxypeptidase-like, regulatory domain (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.86178	2.8	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.99	T	0.53099	-0.8486	10	0.72032	D	0.01	-16.5687	15.0643	0.71980	0.0:0.0:1.0:0.0	.	143;143	P69849;Q5JPE7-2	NOMO3_HUMAN;.	C	143	ENSP00000263012:G143C;ENSP00000382274:G143C	ENSP00000263012:G143C	G	+	1	0	NOMO3	16246450	1.000000	0.71417	0.974000	0.42286	0.660000	0.38997	9.083000	0.94067	1.598000	0.50083	0.186000	0.17326	GGT	0	superfamily_CarboxyPept-like_regulatory		0.567	NOMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOMO3	protein_coding	OTTHUMT00000409528.13	31	13	0	0.00	0	0	G	NM_001004067	0	0		16338949	1	no_errors	ENST00000399336	ensembl	human	known	74_37	missense	14	7	30	30.00	6	3	SNP	1	T	T	16338949	G	T	16338949	3	4	97	1	0	0	0	0	1	0	0	0	10533	1232	43	5	445	5	NOMO3	16	16338949	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	23451	16338949	74015804	550	1749											
CD19	930	genome.wustl.edu	37	chr16	28944391	28944391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgggagggagagcctcCgtgtctcccaccgagggaca	8	6	15	12	2	2	1	0	0	2	1	4	6	3	3	4	3	1	0	4	3	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:28944391C>T	ENST00000324662.3	+	3	559	c.515C>T	c.(514-516)cCg>cTg	p.P172L	CD19_ENST00000567541.1_Missense_Mutation_p.P172L|CD19_ENST00000538922.1_Missense_Mutation_p.P172L			P15391	CD19_HUMAN	CD19 molecule	172					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						GGAGAGCCTCCGTGTCTCCCA	0.647																																							0											0													40	35	37					16																	28944391		2197	4300	6497	SO:0001583	missense	0				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.515C>T	16.37:g.28944391C>T	ENSP00000313419:p.Pro172Leu		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.P172L	ENST00000324662.3	37	c.515	CCDS10644.1	16	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395118	0.25205	.	.	ENSG00000177455	ENST00000538922;ENST00000324662;ENST00000537306	T;T	0.37235	1.21;1.21	5.16	-3.17	0.05202	.	13.638300	0.00810	N	0.001495	T	0.27134	0.0665	L	0.38175	1.15	0.09310	N	1	B;B	0.12630	0.006;0.004	B;B	0.06405	0.002;0.001	T	0.08827	-1.0703	10	0.27082	T	0.32	6.3632	6.0098	0.19569	0.1355:0.3919:0.0:0.4726	.	172;172	F5H635;P15391	.;CD19_HUMAN	L	172;172;21	ENSP00000437940:P172L;ENSP00000313419:P172L	ENSP00000313419:P172L	P	+	2	0	CD19	28851892	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.859000	0.04277	-1.555000	0.01697	-1.644000	0.00765	CCG	0	NULL		0.647	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD19	protein_coding	OTTHUMT00000214152.2	12	97	0	0.00	0	0	C		0	0		28944391	1	no_errors	ENST00000538922	ensembl	human	known	74_37	missense	9	82	25	31.09	3	37	SNP	0	T	T	28944391	C	T	28944391	3	4	97	1	0	0	0	0	1	0	0	0	2973	652	23	2	525	2	CD19	16	28944391	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	12605442	28944391	61410362	551	1750											
ZNF629	23361	genome.wustl.edu	37	chr16	30793648	30793648	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatccaggaagctctctccGcagtgggagcagatgtaggt	9	8	14	10	2	1	1	0	0	1	1	4	4	3	3	2	3	2	4	2	3	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:30793648G>A	ENST00000262525.4	-	3	2208	c.2001C>T	c.(1999-2001)tgC>tgT	p.C667C	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	667					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)			AGCTCTCTCCGCAGTGGGAGC	0.617																																							0											0													18	19	19					16																	30793648		2032	4192	6224	SO:0001819	synonymous_variant	0			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.2001C>T	16.37:g.30793648G>A			Q15938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C667	ENST00000262525.4	37	c.2001	CCDS45463.1	16																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.617	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	protein_coding	OTTHUMT00000434291.1	37	79	0	0.00	0	0	G	NM_015309	0	0		30793648	-1	no_errors	ENST00000262525	ensembl	human	known	74_37	silent	28	74	26.32	26.73	10	27	SNP	0.949	A	A	30793648	G	A	30793648	2	1	97	1	0	0	0	0	0	0	0	1	18050	1079	38	1		1	ZNF629	16	30793648	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1849257	30793648	59561105	552	1751											
ITGAD	3681	genome.wustl.edu	37	chr16	31408919	31408919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtctgcccttgcagtcCgccctgaggccgtgaacatg	5	9	13	14	3	1	2	0	2	1	0	2	2	2	2	4	1	3	1	4	1	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:31408919C>T	ENST00000389202.2	+	4	293	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	82					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						CCTTGCAGTCCGCCCTGAGGC	0.652																																							0											0													48	40	43					16																	31408919		2197	4300	6497	SO:0001583	missense	0			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.244C>T	16.37:g.31408919C>T	ENSP00000373854:p.Arg82Cys		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.R82C	ENST00000389202.2	37	c.244	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308496	0.40895	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.71698	-0.59	4.26	1.2	0.21068	.	.	.	.	.	T	0.59756	0.2217	N	0.08118	0	0.09310	N	1	D;D;D	0.67145	0.996;0.978;0.96	P;P;P	0.55871	0.786;0.513;0.513	T	0.51849	-0.8653	9	0.87932	D	0	.	6.5197	0.22269	0.0:0.5903:0.0:0.4097	.	82;98;82	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	C	98;82	ENSP00000373854:R82C	ENSP00000373854:R82C	R	+	1	0	ITGAD	31316420	0.002000	0.14202	0.004000	0.12327	0.002000	0.02628	0.765000	0.26546	0.170000	0.19704	-0.143000	0.13931	CGC	0	NULL		0.652	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	protein_coding	OTTHUMT00000432836.1	46	83	0	0.00	0	0	C	NM_005353	0	0		31408919	1	no_errors	ENST00000389202	ensembl	human	known	74_37	missense	26	56	31.58	26.32	12	20	SNP	0.071	T	T	31408919	C	T	31408919	3	4	97	1	0	0	0	0	1	0	0	0	7884	652	23	2	258	2	ITGAD	16	31408919	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	615271	31408919	58945834	553	1752											
NKD1	85407	genome.wustl.edu	37	chr16	50583397	50583397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtggatcgggagacaGcgctgcccgggcggtgtctc	6	6	19	10	4	1	1	0	0	1	1	3	5	1	3	1	5	2	1	1	5	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:50583397G>A	ENST00000268459.3	+	3	347	c.123G>A	c.(121-123)caG>caA	p.Q41Q	NKD1_ENST00000564336.1_3'UTR|RP11-401P9.1_ENST00000569940.2_RNA	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	41					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)		TCGGGAGACAGCGCTGCCCGG	0.692																																							0											0													27	29	28					16																	50583397		2198	4300	6498	SO:0001819	synonymous_variant	0			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.123G>A	16.37:g.50583397G>A			B2RC39|Q8WZ08	Silent	SNP	pfscan_EF_hand_dom	p.Q41	ENST00000268459.3	37	c.123	CCDS10743.1	16																																																																																			0	NULL		0.692	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKD1	protein_coding	OTTHUMT00000256873.1	66	34	0	0.00	0	0	G		0	0		50583397	1	no_errors	ENST00000268459	ensembl	human	known	74_37	silent	37	18	36.21	28.00	21	7	SNP	1	A	A	50583397	G	A	50583397	2	1	97	1	0	0	0	0	0	0	0	1	10441	962	34	3		3	NKD1	16	50583397	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	19174478	50583397	39771356	554	1753											
IRX3	79191	genome.wustl.edu	37	chr16	54319086	54319087	+	Frame_Shift_Ins	INS	-	-	C																															gccccccgtgtcctcctcctINScccccccgagctcctcctcc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:54319086_54319087insC	ENST00000329734.3	-	2	1418_1419	c.706_707insG	c.(706-708)gagfs	p.E236fs		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	236	Asp/Glu-rich (acidic).				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E236fs*24(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						gtcctcctcctcccccccgagc	0.658																																					GBM(143;1830 1866 4487 4646 37383)		0											1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.707dupG	16.37:g.54319093_54319093dupC	ENSP00000331608:p.Glu236fs		Q7Z4A4|Q7Z4A5|Q8IVC6	Frame_Shift_Ins	INS	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.E236fs	ENST00000329734.3	37	c.707_706	CCDS10750.1	16																																																																																			0	NULL		0.658	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX3	protein_coding	OTTHUMT00000256910.2	20	125	0	0.00	0	0	0		0	0		54319087	-1	no_errors	ENST00000329734	ensembl	human	known	74_37	frame_shift_ins	5	48	50	37.66	5	29	INS	1.000:1.000	C	C	54319087	-	C	54319086	7	5	97	1	0	1	1	0	0	0	0	0	7845	1551	54	0	810	0	IRX3	16	54319086	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	3735689	54319086	36035667	555	1754											
CNGB1	1258	genome.wustl.edu	37	chr16	57953050	57953050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtacttcttccaggggCggtgtttgaacttgcagcag	7	12	13	9	1	1	1	0	1	1	0	2	1	2	1	1	4	4	4	1	4	2	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:57953050C>T	ENST00000251102.8	-	20	1970	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	CNGB1_ENST00000564448.1_Missense_Mutation_p.R631H	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	637					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						CTTCCAGGGGCGGTGTTTGAA	0.562																																					Colon(156;1293 1853 16336 28962 38659)		0											0													101	104	103					16																	57953050		2004	4182	6186	SO:0001583	missense	0			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.1910G>A	16.37:g.57953050C>T	ENSP00000251102:p.Arg637His		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.R637H	ENST00000251102.8	37	c.1910	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731484	0.69189	.	.	ENSG00000070729	ENST00000251102	D	0.97016	-4.21	4.73	3.77	0.43336	.	0.129530	0.33732	N	0.004619	D	0.96525	0.8866	M	0.68952	2.095	0.80722	D	1	P;D	0.71674	0.633;0.998	B;P	0.58210	0.309;0.835	D	0.95951	0.8954	10	0.66056	D	0.02	.	9.2169	0.37353	0.0:0.8231:0.0:0.1769	.	9;637	Q14028-2;Q14028	.;CNGB1_HUMAN	H	637	ENSP00000251102:R637H	ENSP00000251102:R637H	R	-	2	0	CNGB1	56510551	0.729000	0.28090	1.000000	0.80357	0.842000	0.47809	1.180000	0.32005	1.361000	0.45981	0.561000	0.74099	CGC	0	NULL		0.562	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	protein_coding	OTTHUMT00000337167.2	66	162	0	0.00	0	0	C	NM_001297	0	0		57953050	-1	no_errors	ENST00000251102	ensembl	human	known	74_37	missense	25	77	46.81	41.22	22	54	SNP	1	T	T	57953050	C	T	57953050	3	4	97	1	0	0	0	0	1	0	0	0	3600	768	27	1	1901	1	CNGB1	16	57953050	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3633964	57953050	32401703	556	1755											
CNOT1	23019	genome.wustl.edu	37	chr16	58580623	58580623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctaatacattcataattgCcattgtccaagggtttggtg	11	14	9	7	0	1	0	1	0	0	0	2	0	2	0	2	2	3	2	2	2	4	7			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:58580623C>T	ENST00000317147.5	-	28	4113	c.3781G>A	c.(3781-3783)Gca>Aca	p.A1261T	CNOT1_ENST00000569240.1_Missense_Mutation_p.A1256T|SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Missense_Mutation_p.A112T|CNOT1_ENST00000441024.2_Missense_Mutation_p.A1261T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1261	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)		TTCATAATTGCCATTGTCCAA	0.358																																							0											0													110	104	106					16																	58580623		2198	4300	6498	SO:0001583	missense	0			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.3781G>A	16.37:g.58580623C>T	ENSP00000320949:p.Ala1261Thr		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.A1261T	ENST00000317147.5	37	c.3781	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.174038	0.94807	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.18810	2.19;2.19	5.82	4.87	0.63330	.	0.046444	0.85682	D	0.000000	T	0.34687	0.0906	M	0.64260	1.97	0.80722	D	1	B;B;P;P	0.38250	0.282;0.275;0.624;0.561	B;B;B;P	0.48189	0.414;0.147;0.212;0.57	T	0.06516	-1.0822	10	0.44086	T	0.13	.	14.8962	0.70646	0.0:0.9312:0.0:0.0688	.	112;1261;1261;1256	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	T	1261;112;1256;1261	ENSP00000320949:A1261T;ENSP00000413113:A1261T	ENSP00000245138:A112T	A	-	1	0	CNOT1	57138124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.471000	0.48121	0.650000	0.86243	GCA	0	NULL		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	protein_coding	OTTHUMT00000257385.3	51	282	0	0.00	0	0	C	NM_016284	0	0		58580623	-1	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	14	154	44	36.89	11	90	SNP	1	T	T	58580623	C	T	58580623	3	4	97	1	0	0	0	0	1	0	0	0	3617	739	26	3	3659	3	CNOT1	16	58580623	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	627573	58580623	31774130	557	1756											
CES2	8824	genome.wustl.edu	37	chr16	66974547	66974547	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccatcatggagagtggCgtggccctcctgcccggcct	5	7	15	14	2	1	1	1	0	0	1	2	3	2	2	5	5	2	0	5	5	0	0	rs556416386	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:66974547C>T	ENST00000317091.4	+	5	1941	c.957C>T	c.(955-957)ggC>ggT	p.G319G	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Silent_p.G319G	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	255					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	TGGAGAGTGGCGTGGCCCTCC	0.597													C|||	2	0.000399361	0	0	5008	,	,		19258	0		0	False		,,,				2504	0.002				Ovarian(70;1230 1691 37888 38351)		0.9996,0.0003994											0																																										SO:0001819	synonymous_variant	0			BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"Carboxylesterases"	1864	protein-coding gene	gene with protein product		605278	"carboxylesterase 2 (intestine, liver)"			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.957C>T	16.37:g.66974547C>T			A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.G319	ENST00000317091.4	37	c.957	CCDS10825.1	16																																																																																			0	pfam_CarbesteraseB		0.597	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES2	protein_coding	OTTHUMT00000268838.2	28	107	0	0.00	0	0	C	NM_003869	rs556416386	C->T		66974547	1	no_errors	ENST00000317091	ensembl	human	known	74_37	silent	6	43	45.45	34.85	5	23	SNP	0.457	T	T	66974547	C	T	66974547	2	4	97	1	0	0	0	0	0	0	0	1	3270	755	27	1		1	CES2	16	66974547	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	8393924	66974547	23380206	558	1757											
ZFHX3	463	genome.wustl.edu	37	chr16	72828653	72828653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgatggttgttctcaaaCgcttgtctctctgaggctct	5	16	11	9	1	4	2	1	2	4	0	6	2	4	2	0	2	1	4	0	2	1	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:72828653C>T	ENST00000268489.5	-	9	8600	c.7928G>A	c.(7927-7929)cGt>cAt	p.R2643H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1729H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2643					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2643H(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTTCTCAAACGCTTGTCTCT	0.483																																							0											1	Substitution - Missense(1)	endometrium(1)											289	305	299					16																	72828653		2198	4300	6498	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7928G>A	16.37:g.72828653C>T	ENSP00000268489:p.Arg2643His		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.R2643H	ENST00000268489.5	37	c.7928	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138271	0.37728	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.97138	-4.26;-4.26	5.64	5.64	0.86602	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.50627	D	0.000118	D	0.99254	0.9740	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98630	1.0671	10	0.87932	D	0	.	19.683	0.95971	0.0:1.0:0.0:0.0	.	2643	Q15911	ZFHX3_HUMAN	H	2643;1729	ENSP00000268489:R2643H;ENSP00000438926:R1729H	ENSP00000268489:R2643H	R	-	2	0	ZFHX3	71386154	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	6.088000	0.71371	2.653000	0.90120	0.561000	0.74099	CGT	0	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.483	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000269008.1	65	243	0	0.81	0	2	C	NM_006885	0	0		72828653	-1	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	24	134	27.27	25.14	9	45	SNP	1	T	T	72828653	C	T	72828653	3	4	97	1	0	0	0	0	1	0	0	0	17631	536	19	1	3191	1	ZFHX3	16	72828653	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	5854106	72828653	17526100	559	1758											
PABPN1L	390748	genome.wustl.edu	37	chr16	88930697	88930697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccctggaggccgctgtgggGgaagggtgcccccctggagc	4	5	19	13	1	0	0	0	0	0	0	0	3	0	3	5	6	2	1	5	6	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:88930697G>T	ENST00000419291.2	-	6	756	c.745C>A	c.(745-747)Ccc>Acc	p.P249T	PABPN1L_ENST00000427766.1_Missense_Mutation_p.P213H|PABPN1L_ENST00000411789.2_Silent_p.S219S|PABPN1L_ENST00000378358.4_Missense_Mutation_p.P249T	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	249						cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						CCGCTGTGGGGGAAGGGTGCC	0.687																																							0											0													25	30	28					16																	88930697		1844	4005	5849	SO:0001583	missense	0				CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"RNA binding motif (RRM) containing"	37237	protein-coding gene	gene with protein product	"embryonic poly(A) binding protein 2"					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.745C>A	16.37:g.88930697G>T	ENSP00000408598:p.Pro249Thr		A1L3B3|A2VDI2	Missense_Mutation	SNP	NULL	p.P213H	ENST00000419291.2	37	c.638	CCDS45547.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.20|16.20	3.055631|3.055631	0.55325|0.55325	.|.	.|.	ENSG00000205022|ENSG00000205022	ENST00000427766;ENST00000547152|ENST00000378358;ENST00000419291	.|T;T	.|0.15603	.|2.41;2.65	4.45|4.45	1.31|1.31	0.21738|0.21738	.|.	1.068020|1.068020	0.07182|0.07182	N|N	0.854273|0.854273	T|T	0.14485|0.14485	0.0350|0.0350	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	D|B;B	0.89917|0.33073	1.0|0.396;0.218	D|B;B	0.70935|0.29785	0.971|0.107;0.058	T|T	0.33777|0.33777	-0.9855|-0.9855	9|10	0.66056|0.22706	D|T	0.02|0.39	-31.3305|-31.3305	7.5088|7.5088	0.27562|0.27562	0.2877:0.0:0.7123:0.0|0.2877:0.0:0.7123:0.0	.|.	213|249;249	C9JEK9|A6NDY0;A6NDY0-4	.|EPAB2_HUMAN;.	H|T	213|249	.|ENSP00000367609:P249T;ENSP00000408598:P249T	ENSP00000390913:P213H|ENSP00000367609:P249T	P|P	-|-	2|1	0|0	PABPN1L|PABPN1L	87458198|87458198	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.237000|0.237000	0.25408|0.25408	0.560000|0.560000	0.23500|0.23500	0.092000|0.092000	0.17331|0.17331	0.306000|0.306000	0.20318|0.20318	CCC|CCC	0	NULL		0.687	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPN1L	protein_coding	OTTHUMT00000407502.1	20	80	0	0.00	0	0	G	NM_001080487	0	0		88930697	-1	no_errors	ENST00000427766	ensembl	human	known	74_37	missense	13	38	31.58	37.70	6	23	SNP	0.014	T	T	88930697	G	T	88930697	3	4	97	1	0	0	0	0	1	0	0	0	11369	1232	43	5	131	5	PABPN1L	16	88930697	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	16102044	88930697	1424056	560	1759											
CPNE7	27132	genome.wustl.edu	37	chr16	89653462	89653462	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccggaagttccacagggtGtactccttcctggactatat	8	11	11	11	1	0	0	0	0	0	0	3	2	3	2	4	4	1	2	4	4	4	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:89653462G>A	ENST00000268720.5	+	11	1234	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	CPNE7_ENST00000319518.8_Silent_p.V293V	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	368					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCACAGGGTGTACTCCTTCC	0.697																																							0											0													108	97	101					16																	89653462		2193	4287	6480	SO:0001819	synonymous_variant	0			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1104G>A	16.37:g.89653462G>A				Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.V368	ENST00000268720.5	37	c.1104	CCDS10980.1	16																																																																																			0	NULL		0.697	CPNE7-002	KNOWN	basic|CCDS	protein_coding	CPNE7	protein_coding	OTTHUMT00000269929.2	49	37	0	0.00	0	0	G		0	0		89653462	1	no_errors	ENST00000268720	ensembl	human	known	74_37	silent	20	15	35.48	40.00	11	10	SNP	0.996	A	A	89653462	G	A	89653462	2	1	97	1	0	0	0	0	0	0	0	1	3817	1364	48	3		3	CPNE7	16	89653462	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	722765	89653462	701291	561	1760											
WDR81	124997	genome.wustl.edu	37	chr17	1629622	1629622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgtgtacaaggctcggCgcacgcctcggtcggtgctc	6	9	13	13	5	0	0	0	0	0	0	4	0	0	0	1	4	2	4	1	4	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:1629622C>T	ENST00000409644.1	+	1	1369	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	457	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)		CAAGGCTCGGCGCACGCCTCG	0.652																																							0											0													24	27	26					17																	1629622		692	1588	2280	SO:0001583	missense	0			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.1369C>T	17.37:g.1629622C>T	ENSP00000386609:p.Arg457Cys		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.R457C	ENST00000409644.1	37	c.1369	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815583	0.50527	.	.	ENSG00000167716	ENST00000409644	T	0.80123	-1.34	5.4	3.27	0.37495	.	.	.	.	.	D	0.84768	0.5545	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.85239	0.1037	6	0.49607	T	0.09	.	13.5457	0.61702	0.4382:0.5618:0.0:0.0	.	.	.	.	C	457	ENSP00000386609:R457C	ENSP00000386609:R457C	R	+	1	0	WDR81	1576372	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	1.878000	0.39608	1.259000	0.44117	0.462000	0.41574	CGC	0	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.652	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	protein_coding	OTTHUMT00000333118.2	10	41	0	0.00	0	0	C	NM_152348	0	0		1629622	1	no_errors	ENST00000409644	ensembl	human	known	74_37	missense	11	52	26.67	20.00	4	13	SNP	1	T	T	1629622	C	T	1629622	3	4	97	1	0	0	0	0	1	0	0	0	17327	768	27	1	1433	1	WDR81	17	1629622	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09		1629622	79565588	562	1761											
WDR81	124997	genome.wustl.edu	37	chr17	1637359	1637359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtaccgtgcgcctctggccGctgtacaactacggcgacgg	6	7	13	15	7	1	0	0	0	1	0	1	1	1	0	3	3	5	3	3	3	4	3	rs542515276		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:1637359G>A	ENST00000409644.1	+	7	5028	c.5028G>A	c.(5026-5028)ccG>ccA	p.P1676P	WDR81_ENST00000437219.2_Silent_p.P473P|WDR81_ENST00000545662.1_Silent_p.P307P|WDR81_ENST00000309182.5_Silent_p.P625P|WDR81_ENST00000419248.1_Silent_p.P449P|WDR81_ENST00000446363.1_Silent_p.P315P|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1676					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)		GCCTCTGGCCGCTGTACAACT	0.677																																							0											0													49	46	47					17																	1637359		2203	4296	6499	SO:0001819	synonymous_variant	0			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.5028G>A	17.37:g.1637359G>A			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.P1676	ENST00000409644.1	37	c.5028	CCDS54062.1	17																																																																																			0	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.677	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	protein_coding	OTTHUMT00000333118.2	33	26	0	0.00	0	0	G	NM_152348	0	0		1637359	1	no_errors	ENST00000409644	ensembl	human	known	74_37	silent	12	21	20	37.14	3	13	SNP	0.047	A	A	1637359	G	A	1637359	2	1	97	1	0	0	0	0	0	0	0	1	17327	1074	38	1		1	WDR81	17	1637359	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	7737	1637359	79557851	563	1762											
OR3A1	4994	genome.wustl.edu	37	chr17	3195464	3195464	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggactgtctgactcatgCgggtgctgtaggtgaggggc	5	11	17	8	1	3	2	1	2	2	0	3	3	3	3	0	5	2	2	0	5	1	1	rs143631940		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:3195464C>G	ENST00000323404.1	-	1	412	c.413G>C	c.(412-414)cGc>cCc	p.R138P	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	138					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|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)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTGACTCATGCGGGTGCTGTA	0.582																																					GBM(20;287 516 18743 28660 36594)		0											0													116	111	113					17																	3195464		2203	4300	6503	SO:0001583	missense	0			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.413G>C	17.37:g.3195464C>G	ENSP00000313803:p.Arg138Pro		Q4VB06|Q6IFM4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R138P	ENST00000323404.1	37	c.413	CCDS11023.1	17	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350493	0.41599	.	.	ENSG00000180090	ENST00000323404	T	0.00220	8.52	5.31	0.898	0.19264	GPCR, rhodopsin-like superfamily (1);	0.131866	0.35291	N	0.003317	T	0.00210	0.0006	L	0.52573	1.65	0.09310	N	1	P	0.46512	0.879	P	0.50708	0.648	T	0.46569	-0.9182	10	0.41790	T	0.15	-13.4225	3.982	0.09499	0.2805:0.4667:0.0:0.2528	.	138	P47881	OR3A1_HUMAN	P	138	ENSP00000313803:R138P	ENSP00000313803:R138P	R	-	2	0	OR3A1	3142214	0.000000	0.05858	0.923000	0.36655	0.826000	0.46750	-0.014000	0.12656	0.785000	0.33685	0.650000	0.86243	CGC	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.582	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A1	protein_coding	OTTHUMT00000207302.2	47	61	0	0.00	0	0	C		0	0		3195464	-1	no_errors	ENST00000323404	ensembl	human	known	74_37	missense	32	45	33.33	19.64	16	11	SNP	0.004	G	G	3195464	C	G	3195464	3	3	97	1	0	0	0	0	1	0	0	0	11037	768	27	5	538	5	OR3A1	17	3195464	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1558105	3195464	77999746	564	1763											
OR1E1	8387	genome.wustl.edu	37	chr17	3301569	3301569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtcgaatgaggacaaTgatgaggaggttccccagga	12	7	14	8	1	0	3	0	3	0	0	3	7	2	6	3	4	0	1	3	4	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:3301569T>C	ENST00000322608.2	-	1	135	c.136A>G	c.(136-138)Att>Gtt	p.I46V		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	46					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)|large_intestine(2)|lung(5)	10						ATGAGGACAATGATGAGGAGG	0.532																																							0											0													104	100	101					17																	3301569		2203	4300	6503	SO:0001583	missense	0			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"GPCR / Class A : Olfactory receptors"	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.136A>G	17.37:g.3301569T>C	ENSP00000313384:p.Ile46Val		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I46V	ENST00000322608.2	37	c.136	CCDS11024.1	17	.	.	.	.	.	.	.	.	.	.	T	6.852	0.526447	0.13066	.	.	ENSG00000180016	ENST00000322608	T	0.02812	4.15	4.39	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.195135	0.36200	N	0.002727	T	0.02767	0.0083	L	0.39245	1.2	0.09310	N	0.999999	B	0.12630	0.006	B	0.14578	0.011	T	0.41142	-0.9525	10	0.45353	T	0.12	.	6.1315	0.20207	0.0:0.0882:0.1629:0.7489	.	46	P30953	OR1E1_HUMAN	V	46	ENSP00000313384:I46V	ENSP00000313384:I46V	I	-	1	0	OR1E1	3248319	0.277000	0.24220	0.297000	0.24988	0.633000	0.38033	0.185000	0.16958	0.225000	0.20959	0.456000	0.33151	ATT	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E1	protein_coding	OTTHUMT00000207303.1	67	90	0	0.00	0	0	T	NM_003553	0	0		3301569	-1	no_errors	ENST00000322608	ensembl	human	known	74_37	missense	30	66	33.33	23.26	15	20	SNP	0.175	C	C	3301569	T	C	3301569	3	2	97	1	0	0	0	0	1	0	0	0	10954	1464	51	3	812	3	OR1E1	17	3301569	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	106105	3301569	77893641	565	1764											
PELP1	27043	genome.wustl.edu	37	chr17	4576011	4576012	+	Frame_Shift_Ins	INS	-	-	C																															aaggctggtctgggcactctINSccccccaaaagtttcatctg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:4576011_4576012insC	ENST00000574876.1	-	16	2291_2292	c.2274_2275insG	c.(2272-2277)gggagafs	p.R759fs	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Frame_Shift_Ins_p.R669fs|PELP1_ENST00000572293.1_Frame_Shift_Ins_p.R809fs|PELP1_ENST00000301396.4_Frame_Shift_Ins_p.R903fs|PELP1_ENST00000436683.2_Frame_Shift_Ins_p.R612fs			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	759	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGGGCACTCTCCCCCCAAAAG	0.569																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2275dupG	17.37:g.4576017_4576017dupC	ENSP00000461625:p.Arg759fs		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Frame_Shift_Ins	INS	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.R902fs	ENST00000574876.1	37	c.2707_2706	CCDS58503.1	17																																																																																			0	NULL		0.569	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	protein_coding	OTTHUMT00000439140.2	44	95	0	0.00	0	0	0	NM_014389	0	0		4576012	-1	no_errors	ENST00000301396	ensembl	human	known	74_37	frame_shift_ins	26	91	39.53	26.02	17	32	INS	0.905:0.913	C	C	4576012	-	C	4576011	7	5	97	1	0	1	1	0	0	0	0	0	11725	1559	54	0	1125	0	PELP1	17	4576011	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	1274442	4576011	76619199	566	1765											
WSCD1	23302	genome.wustl.edu	37	chr17	5984033	5984033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgccgaacacagttcctgCtgttcttcctcacggctgcc	5	11	8	17	3	2	0	1	0	1	0	5	1	5	0	5	1	3	4	5	1	1	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:5984033C>T	ENST00000574946.1	+	2	445	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	WSCD1_ENST00000317744.5_Silent_p.L19L|WSCD1_ENST00000539421.1_Silent_p.L19L|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000574232.1_Silent_p.L19L			Q658N2	WSCD1_HUMAN	WSC domain containing 1	19						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						ACAGTTCCTGCTGTTCTTCCT	0.677																																							0											0													36	34	35					17																	5984033		2130	4140	6270	SO:0001819	synonymous_variant	0				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.55C>T	17.37:g.5984033C>T			A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.L19	ENST00000574946.1	37	c.55	CCDS32538.1	17																																																																																			0	NULL		0.677	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	protein_coding	OTTHUMT00000438965.4	42	106	0	0.00	0	0	C	NM_015253	0	0		5984033	1	no_errors	ENST00000317744	ensembl	human	known	74_37	silent	28	88	12.5	34.07	4	46	SNP	1	T	T	5984033	C	T	5984033	2	4	97	1	0	0	0	0	0	0	0	1	17403	796	28	3		3	WSCD1	17	5984033	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1408022	5984033	75211177	567	1766											
SLC13A5	284111	genome.wustl.edu	37	chr17	6609990	6609990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcccccacccagaggagCgtgcgcagggcgatcctctt	6	7	13	15	3	1	1	0	0	1	1	2	3	2	2	4	3	2	1	4	3	0	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:6609990C>T	ENST00000433363.2	-	3	572	c.339G>A	c.(337-339)acG>acA	p.T113T	SLC13A5_ENST00000381074.4_Silent_p.T70T|SLC13A5_ENST00000293800.6_Silent_p.T113T|SLC13A5_ENST00000573648.1_Silent_p.T113T	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	113					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						CCCAGAGGAGCGTGCGCAGGG	0.632																																							0											0													62	52	55					17																	6609990		2203	4300	6503	SO:0001819	synonymous_variant	0			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.339G>A	17.37:g.6609990C>T			B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.T113	ENST00000433363.2	37	c.339	CCDS11079.1	17																																																																																			0	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom		0.632	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A5	protein_coding	OTTHUMT00000219853.2	27	70	0	0.00	0	0	C	NM_177550	0	0		6609990	-1	no_errors	ENST00000433363	ensembl	human	known	74_37	silent	2	54	66.67	30.77	4	24	SNP	0.897	T	T	6609990	C	T	6609990	2	4	97	1	0	0	0	0	0	0	0	1	14395	755	27	1		1	SLC13A5	17	6609990	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	625957	6609990	74585220	568	1767											
TP53	7157	genome.wustl.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		0	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		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.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	0	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	15	161	6.25	0.60	1	1	G	NM_000546	rs121913343	G->A		7577121	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	11	141	31.25	25.00	5	47	SNP	0.83	A	A	7577121	G	A	7577121	3	1	97	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	967131	7577121	73618089	569	1768											
DNAH2	146754	genome.wustl.edu	37	chr17	7720010	7720010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagctgggatgctcgtgtCggggttggctggcgagaagg	5	8	21	7	4	0	1	0	0	0	1	2	4	0	2	0	6	2	4	0	6	1	1	rs140494502	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:7720010C>T	ENST00000572933.1	+	64	11311	c.9851C>T	c.(9850-9852)tCg>tTg	p.S3284L	DNAH2_ENST00000389173.2_Missense_Mutation_p.S3284L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3284					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)				ATGCTCGTGTCGGGGTTGGCT	0.552																																							0											0								C	LEU/SER	0,4406		0,0,2203	142	123	129		9851	3.6	0.8	17	dbSNP_134	129	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DNAH2	NM_020877.2	145	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	3284/4428	7720010	3,13003	2203	4300	6503	SO:0001583	missense	0			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.9851C>T	17.37:g.7720010C>T	ENSP00000458355:p.Ser3284Leu		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.S3284L	ENST00000572933.1	37	c.9851	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143159	0.37825	0.0	3.49E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.74632	-0.86	4.58	3.6	0.41247	Dynein heavy chain, coiled coil stalk (1);	0.142348	0.48767	D	0.000179	T	0.72590	0.3479	M	0.79475	2.455	0.80722	D	1	P;P	0.52692	0.945;0.955	B;B	0.39503	0.301;0.298	T	0.76881	-0.2795	10	0.48119	T	0.1	.	13.9574	0.64157	0.0:0.8463:0.1537:0.0	.	3245;3284	Q9P225-2;Q9P225	.;DYH2_HUMAN	L	3245;3284	ENSP00000373825:S3284L	ENSP00000353818:S3245L	S	+	2	0	DNAH2	7660735	0.997000	0.39634	0.815000	0.32552	0.264000	0.26372	3.746000	0.55127	1.260000	0.44134	0.561000	0.74099	TCG	0	NULL		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	58	117	0	0.00	0	0	C	NM_020877	rs140494502	C->T		7720010	1	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	26	81	18.75	30.17	6	35	SNP	0.94	T	T	7720010	C	T	7720010	3	4	97	1	0	0	0	0	1	0	0	0	4602	893	31	2	10101	2	DNAH2	17	7720010	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	142889	7720010	73475200	570	1769											
GUCY2D	3000	genome.wustl.edu	37	chr17	7915475	7915475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagctccaggagctccGgcatgagaacgtggccctct	7	8	11	15	2	2	1	1	1	2	1	5	3	4	2	3	3	3	3	3	3	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:7915475G>A	ENST00000254854.4	+	9	1913	c.1763G>A	c.(1762-1764)cGg>cAg	p.R588Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	588	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CAGGAGCTCCGGCATGAGAAC	0.592																																							0											0													30	34	33					17																	7915475		2203	4300	6503	SO:0001583	missense	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1763G>A	17.37:g.7915475G>A	ENSP00000254854:p.Arg588Gln		Q6LEA7	Missense_Mutation	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.R588Q	ENST00000254854.4	37	c.1763	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.561936	0.96527	.	.	ENSG00000132518	ENST00000254854	T	0.63096	-0.02	5.32	5.32	0.75619	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44285	D	0.000467	T	0.74504	0.3725	M	0.64404	1.975	0.46044	D	0.998833	D	0.69078	0.997	P	0.62491	0.903	T	0.70978	-0.4725	10	0.32370	T	0.25	.	17.9185	0.88959	0.0:0.0:1.0:0.0	.	588	Q02846	GUC2D_HUMAN	Q	588	ENSP00000254854:R588Q	ENSP00000254854:R588Q	R	+	2	0	GUCY2D	7856200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.771000	0.85420	2.769000	0.95229	0.563000	0.77884	CGG	0	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,pfscan_Prot_kinase_dom		0.592	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	protein_coding	OTTHUMT00000226973.2	20	113	0	0.00	0	0	G		0	0		7915475	1	no_errors	ENST00000254854	ensembl	human	known	74_37	missense	9	75	25	41.86	3	54	SNP	1	A	A	7915475	G	A	7915475	3	1	97	1	0	0	0	0	1	0	0	0	6897	1116	39	2	1793	2	GUCY2D	17	7915475	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	195465	7915475	73279735	571	1770											
MYH13	8735	genome.wustl.edu	37	chr17	10227551	10227551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgatgagtccttcacaccGttcctcagcgtccatcagat	8	13	7	13	2	3	3	3	2	0	1	6	3	6	3	4	0	1	1	4	0	0	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:10227551G>A	ENST00000418404.3	-	22	2885	c.2722C>T	c.(2722-2724)Cgg>Tgg	p.R908W	MYH13_ENST00000252172.4_Missense_Mutation_p.R908W|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	908					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						CCTTCACACCGTTCCTCAGCG	0.428																																							0											0													127	117	120					17																	10227551		1964	4162	6126	SO:0001583	missense	0			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.2722C>T	17.37:g.10227551G>A	ENSP00000404570:p.Arg908Trp		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.R908W	ENST00000418404.3	37	c.2722	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727357	0.69074	.	.	ENSG00000006788	ENST00000252172	D	0.94457	-3.43	4.37	1.01	0.19927	.	.	.	.	.	D	0.97551	0.9198	H	0.97896	4.1	0.39144	D	0.962099	D	0.89917	1.0	D	0.87578	0.998	D	0.94638	0.7828	9	0.87932	D	0	.	2.7277	0.05218	0.0976:0.1235:0.4202:0.3587	.	908	Q9UKX3	MYH13_HUMAN	W	908	ENSP00000252172:R908W	ENSP00000252172:R908W	R	-	1	2	MYH13	10168276	1.000000	0.71417	0.254000	0.24359	0.980000	0.70556	3.751000	0.55165	0.570000	0.29347	0.655000	0.94253	CGG	0	NULL		0.428	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	69	267	0	0.00	0	0	G	NM_003802	0	0		10227551	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	36	210	18.18	30.92	8	94	SNP	1	A	A	10227551	G	A	10227551	3	1	97	1	0	0	0	0	1	0	0	0	10032	1144	40	1	3170	1	MYH13	17	10227551	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2312076	10227551	70967659	572	1771											
SCO1	6341	genome.wustl.edu	37	chr17	10595204	10595204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatacctttcacataatttgCgatggcttcttttgtgtccc	8	17	6	10	1	2	0	1	0	1	0	3	1	3	0	2	1	2	1	2	1	3	7	rs145764824		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:10595204C>T	ENST00000255390.5	-	4	700	c.640G>A	c.(640-642)Gca>Aca	p.A214T	SCO1_ENST00000577427.1_Missense_Mutation_p.A183T|SCO1_ENST00000582053.1_5'Flank	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	214					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						ACATAATTTGCGATGGCTTCT	0.348																																					Melanoma(128;591 1731 19711 31891 44645)		0											0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	89	87	88		640	5.5	0.9	17	dbSNP_134	88	0,8600		0,0,4300	no	missense	SCO1	NM_004589.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	214/302	10595204	1,13005	2203	4300	6503	SO:0001583	missense	0			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.640G>A	17.37:g.10595204C>T	ENSP00000255390:p.Ala214Thr		B2RDM0	Missense_Mutation	SNP	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.A214T	ENST00000255390.5	37	c.640	CCDS11158.1	17	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854762	0.91355	2.27E-4	0.0	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.94046	-3.34	5.5	5.5	0.81552	Thioredoxin-like fold (2);	0.047675	0.85682	D	0.000000	D	0.96125	0.8737	M	0.77406	2.37	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.63877	0.919;0.889	D	0.94734	0.7912	10	0.33141	T	0.24	-23.1032	17.7704	0.88490	0.0:1.0:0.0:0.0	.	183;214	A8MY34;O75880	.;SCO1_HUMAN	T	214;183	ENSP00000255390:A214T	ENSP00000255390:A214T	A	-	1	0	SCO1	10535929	0.996000	0.38824	0.949000	0.38748	0.919000	0.55068	3.916000	0.56416	2.854000	0.98071	0.655000	0.94253	GCA	0	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.348	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO1	protein_coding	OTTHUMT00000252729.2	82	267	0	0.37	0	1	C	NM_004589	rs145764824	C->T		10595204	-1	no_errors	ENST00000255390	ensembl	human	known	74_37	missense	49	194	26.87	28.15	18	76	SNP	1	T	T	10595204	C	T	10595204	3	4	97	1	0	0	0	0	1	0	0	0	13931	768	27	1	277	1	SCO1	17	10595204	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	367653	10595204	70600006	573	1772											
ZNF286A	57335	genome.wustl.edu	37	chr17	15619437	15619437	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttccaaagcagaatcAtgcaaagttgcaataataga	17	11	7	6	0	1	2	1	0	0	2	2	3	2	2	1	0	3	4	1	0	6	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:15619437A>G	ENST00000464847.2	+	5	952	c.399A>G	c.(397-399)tcA>tcG	p.S133S	ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000421016.1_Silent_p.S133S|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.S133S|ZNF286A_ENST00000413242.2_Silent_p.S133S|ZNF286A_ENST00000593105.1_Silent_p.S123S			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	133					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(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAGCAGAATCATGCAAAGTTG	0.393																																							0											0													48	47	48					17																	15619437		2199	4285	6484	SO:0001819	synonymous_variant	0			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"Zinc fingers, C2H2-type", "-"	13501	protein-coding gene	gene with protein product			"zinc finger protein 286"	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.399A>G	17.37:g.15619437A>G			B4DKF9|Q96JF3	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.S133	ENST00000464847.2	37	c.399	CCDS11172.1	17																																																																																			0	NULL		0.393	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286A	protein_coding	OTTHUMT00000130696.4	83	121	0	0.00	0	0	A	NM_020652	0	0		15619437	1	no_errors	ENST00000413242	ensembl	human	known	74_37	silent	53	124	26.39	28.32	19	49	SNP	0.005	G	G	15619437	A	G	15619437	2	3	97	1	0	0	0	0	0	0	0	1	17820	204	8	3		3	ZNF286A	17	15619437	Silent	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	5024233	15619437	65575773	574	1773											
UBB	7314	genome.wustl.edu	37	chr17	16285784	16285785	+	Frame_Shift_Ins	INS	-	-	C																															atccaagataaagaaggcatINScccccccgaccagcagaggc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:16285784_16285785insC	ENST00000395837.1	+	2	744_745	c.563_564insC	c.(562-567)atccccfs	p.IP188fs	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Frame_Shift_Ins_p.IP188fs|UBB_ENST00000395839.1_Frame_Shift_Ins_p.IP188fs|UBB_ENST00000535788.1_Frame_Shift_Ins_p.IP112fs|UBB_ENST00000578649.1_3'UTR	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	188	Ubiquitin-like 3. {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)		p.D191fs*35(1)		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)		AAAGAAGGCATCCCCCCCGACC	0.545																																					Melanoma(163;1126 3406 34901)		0											1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0				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.570dupC	17.37:g.16285791_16285791dupC	ENSP00000379178:p.Ile188fs		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Frame_Shift_Ins	INS	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,prints_Ubiquitin,pfscan_Ubiquitin_supergroup	p.D191fs	ENST00000395837.1	37	c.563_564	CCDS11177.1	17																																																																																			0	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup		0.545	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	UBB	protein_coding	OTTHUMT00000130459.1	77	57	0	0.00	0	0	0	NM_018955	0	0		16285785	1	no_errors	ENST00000302182	ensembl	human	novel	74_37	frame_shift_ins	49	39	26.87	31.58	18	18	INS	1.000:0.986	C	C	16285785	-	C	16285784	7	5	97	1	0	1	1	0	0	0	0	0	16838	1435	50	0	565	0	UBB	17	16285784	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	666347	16285784	64909426	575	1774											
SREBF1	6720	genome.wustl.edu	37	chr17	17726853	17726853	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaaagtgcaatccatggCtccgcgatctgcgcccgccc	7	8	10	16	5	1	0	0	0	1	0	4	2	3	0	4	1	2	2	4	1	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:17726853C>A	ENST00000261646.5	-	2	276				SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000355815.4_Missense_Mutation_p.A54S|SREBF1_ENST00000435530.2_Intron	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1						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						CAATCCATGGCTCCGCGATCT	0.632																																							0											0													53	58	57					17																	17726853		2203	4300	6503	SO:0001627	intron_variant	0			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.92-3018G>T	17.37:g.17726853C>A			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.A54S	ENST00000261646.5	37	c.160	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.036336|2.036336	0.35893|0.35893	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000355815|ENST00000395751	T|.	0.52526|.	0.66|.	3.15|3.15	1.13|1.13	0.20643|0.20643	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.28333|0.28333	0.0700|0.0700	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.28971|.	0.229|.	B|.	0.32211|.	0.142|.	T|T	0.03112|0.03112	-1.1071|-1.1071	10|5	0.40728|.	T|.	0.16|.	-4.4799|-4.4799	5.2942|5.2942	0.15743|0.15743	0.0:0.6152:0.0:0.3847|0.0:0.6152:0.0:0.3847	.|.	54|.	P36956-4|.	.|.	S|I	54|31	ENSP00000348069:A54S|.	ENSP00000348069:A54S|.	A|S	-|-	1|2	0|0	SREBF1|SREBF1	17667578|17667578	0.366000|0.366000	0.25014|0.25014	0.969000|0.969000	0.41365|0.41365	0.753000|0.753000	0.42808|0.42808	0.186000|0.186000	0.16978|0.16978	0.365000|0.365000	0.24400|0.24400	0.462000|0.462000	0.41574|0.41574	GCC|AGC	0	NULL		0.632	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	protein_coding	OTTHUMT00000131771.1	128	134	0	0.00	0	0	C	NM_004176	0	0		17726853	-1	no_errors	ENST00000355815	ensembl	human	known	74_37	missense	67	106	26.37	24.82	24	35	SNP	0.973	A	A	17726853	C	A	17726853	1	1	97	0	1	0	0	0	0	0	0	0	15140	797	28	5		5	SREBF1	17	17726853	Intron	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1441069	17726853	63468357	576	1775											
LGALS9C	654346	genome.wustl.edu	37	chr17	18396087	18396087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgagaatgctgtggtcCgtaacacccagatcaacaac	13	9	9	10	1	1	3	1	2	0	2	2	4	2	3	2	1	4	2	2	1	4	2	rs199959851		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:18396087C>T	ENST00000328114.6	+	10	919	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.R192C|LGALS9C_ENST00000583322.1_Missense_Mutation_p.R247C	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	280	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						TGCTGTGGTCCGTAACACCCA	0.587													c|||	1	0.000199681	8e-04	0	5008	,	,		21766	0		0	False		,,,				2504	0						0.9998,0.0001997											0													59	36	44					17																	18396087		2194	4194	6388	SO:0001583	missense	0				CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"Lectins, galactoside-binding"	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.838C>T	17.37:g.18396087C>T	ENSP00000329932:p.Arg280Cys		B0AZM7	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.R280C	ENST00000328114.6	37	c.838	CCDS32587.1	17	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	12.24	1.877143	0.33162	.	.	ENSG00000171916	ENST00000412421;ENST00000328114	T;T	0.12984	2.63;2.63	2.26	1.28	0.21552	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.54863	1.705	0.58432	D	0.99999	D	0.89917	1.0	D	0.79108	0.992	T	0.01093	-1.1454	10	0.41790	T	0.15	.	7.1797	0.25765	0.0:0.8496:0.0:0.1504	.	280	Q6DKI2	LEG9C_HUMAN	C	192;280	ENSP00000390286:R192C;ENSP00000329932:R280C	ENSP00000329932:R280C	R	+	1	0	LGALS9C	18336812	0.737000	0.28175	0.994000	0.49952	0.376000	0.30014	1.183000	0.32041	0.515000	0.28320	0.184000	0.17185	CGT	0	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.587	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LGALS9C	protein_coding	OTTHUMT00000131456.2	33	15	0	0.00	0	0	C	NM_001040078	rs199959851	C->T		18396087	1	no_errors	ENST00000328114	ensembl	human	known	74_37	missense	10	8	56.52	55.56	13	10	SNP	0.999	T	T	18396087	C	T	18396087	3	4	97	1	0	0	0	0	1	0	0	0	8750	652	23	2	876	2	LGALS9C	17	18396087	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	669234	18396087	62799123	577	1776											
TRIM16L	147166	genome.wustl.edu	37	chr17	18638283	18638283	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaacaccacgccctgggAgcatccctacccggacctcc	9	4	7	21	2	0	0	0	0	0	0	2	2	2	2	7	2	3	1	7	2	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:18638283A>T	ENST00000449552.2	+	7	2041	c.557A>T	c.(556-558)gAg>gTg	p.E186V	TRIM16L_ENST00000414850.2_Missense_Mutation_p.S99C|TRIM16L_ENST00000395672.2_Missense_Mutation_p.E186V|TRIM16L_ENST00000572555.1_Missense_Mutation_p.E186V|TRIM16L_ENST00000395671.4_Missense_Mutation_p.E186V|TRIM16L_ENST00000571708.1_Missense_Mutation_p.E186V|TRIM16L_ENST00000395902.3_Missense_Mutation_p.E240V			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	186	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						ACGCCCTGGGAGCATCCCTAC	0.592																																							0											0													35	32	33					17																	18638283		2202	4283	6485	SO:0001583	missense	0			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"tripartite motif-containing 16-like"				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.557A>T	17.37:g.18638283A>T	ENSP00000461386:p.Glu186Val		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	p.E240V	ENST00000449552.2	37	c.719	CCDS32588.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	9.051|9.051	0.992188|0.992188	0.18966|0.18966	.|.	.|.	ENSG00000108448|ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671|ENST00000414850	T;T;T|.	0.68181|.	-0.31;-0.31;-0.31|.	3.54|3.54	3.54|3.54	0.40534|0.40534	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);|.	0.140195|.	0.47455|.	U|.	0.000226|.	T|T	0.48768|0.48768	0.1518|0.1518	N|N	0.25890|0.25890	0.77|0.77	0.37517|0.37517	D|D	0.917367|0.917367	D;D;D|D	0.76494|0.65815	0.999;0.999;0.999|0.995	D;D;D|P	0.74674|0.52909	0.971;0.969;0.984|0.713	T|T	0.57717|0.57717	-0.7763|-0.7763	10|8	0.45353|0.87932	T|D	0.12|0	-9.6922|-9.6922	10.1008|10.1008	0.42504|0.42504	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	240;402;186|99	B4DE22;B3KMJ2;Q309B1|B4DWQ8	.;.;TR16L_HUMAN|.	V|C	240;186;186|99	ENSP00000379239:E240V;ENSP00000379031:E186V;ENSP00000379030:E186V|.	ENSP00000379030:E186V|ENSP00000403648:S99C	E|S	+|+	2|1	0|0	TRIM16L|TRIM16L	18579008|18579008	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.390000|0.390000	0.30446|0.30446	6.401000|6.401000	0.73256|0.73256	1.480000|1.480000	0.48289|0.48289	0.163000|0.163000	0.16589|0.16589	GAG|AGC	0	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY		0.592	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	protein_coding	OTTHUMT00000130670.3	53	125	0	0.00	0	0	A	NM_001037330	0	0		18638283	1	no_errors	ENST00000395902	ensembl	human	known	74_37	missense	31	157	13.89	8.72	5	15	SNP	1	T	T	18638283	A	T	18638283	3	4	97	1	0	0	0	0	1	0	0	0	16489	304	11	5	571	5	TRIM16L	17	18638283	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	242196	18638283	62556927	578	1777											
SLC47A2	146802	genome.wustl.edu	37	chr17	19582127	19582127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtaggagctgaaagggCgtgggcctcctctggagtcc	6	8	17	10	1	1	1	0	1	1	0	3	3	3	3	3	5	1	3	3	5	2	1	rs113234335		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:19582127C>T	ENST00000325411.5	-	17	1731	c.1681G>A	c.(1681-1683)Gcc>Acc	p.A561T	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Missense_Mutation_p.A539T	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	561					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)	GCTGAAAGGGCGTGGGCCTCC	0.597																																							0											0													56	49	51					17																	19582127		2203	4300	6503	SO:0001583	missense	0			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.1681G>A	17.37:g.19582127C>T	ENSP00000326671:p.Ala561Thr		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.A561T	ENST00000325411.5	37	c.1681	CCDS11211.1	17	.	.	.	.	.	.	.	.	.	.	C	4.139	0.024151	0.08006	.	.	ENSG00000180638	ENST00000350657;ENST00000325411	T;T	0.31247	1.5;1.51	4.44	-0.778	0.10977	.	1.370640	0.04957	N	0.461334	T	0.25568	0.0622	L	0.44542	1.39	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.001	B;B;B	0.12837	0.008;0.002;0.002	T	0.28106	-1.0054	10	0.22109	T	0.4	-0.0969	8.396	0.32557	0.0:0.6663:0.1343:0.1994	.	525;539;561	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	T	539;561	ENSP00000338084:A539T;ENSP00000326671:A561T	ENSP00000326671:A561T	A	-	1	0	SLC47A2	19522719	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.582000	0.00905	0.007000	0.14760	-1.475000	0.01000	GCC	0	NULL		0.597	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	protein_coding	OTTHUMT00000132242.2	42	140	0	0.00	0	0	C	NM_152908	rs113234335	C->T		19582127	-1	no_errors	ENST00000325411	ensembl	human	known	74_37	missense	28	109	33.33	18.66	14	25	SNP	0	T	T	19582127	C	T	19582127	3	4	97	1	0	0	0	0	1	0	0	0	14648	768	27	1	131	1	SLC47A2	17	19582127	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	943844	19582127	61613083	579	1778											
NLK	51701	genome.wustl.edu	37	chr17	26370220	26370220	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcctggaccagctgcAgcagccccagctcaggtaca	9	5	11	16	0	1	0	1	0	0	0	2	1	2	1	4	3	6	6	4	3	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:26370220A>T	ENST00000407008.3	+	1	1039	c.321A>T	c.(319-321)gcA>gcT	p.A107A	NLK_ENST00000583517.1_3'UTR|NLK_ENST00000582037.1_Silent_p.A107A	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	107	Poly-Ala.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GACCAGCTGCAGCAGCCCCAG	0.617																																							0											0													110	91	97					17																	26370220		2203	4300	6503	SO:0001819	synonymous_variant	0			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.321A>T	17.37:g.26370220A>T			B2RCX1|Q2PNI9|Q6P2A3	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.A107	ENST00000407008.3	37	c.321	CCDS11224.2	17																																																																																			0	NULL		0.617	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLK	protein_coding	OTTHUMT00000255607.3	141	53	0	0.00	0	0	A	NM_016231	0	0		26370220	1	no_errors	ENST00000407008	ensembl	human	known	74_37	silent	78	43	33.9	33.85	40	22	SNP	0.979	T	T	26370220	A	T	26370220	2	4	97	1	0	0	0	0	0	0	0	1	10466	175	7	5		5	NLK	17	26370220	Silent	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	6788093	26370220	54824990	580	1779											
KIAA0100	9703	genome.wustl.edu	37	chr17	26961698	26961698	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctaccagttctagcccTgctaagctccaagtaagcag	12	8	9	12	0	1	1	0	0	1	1	2	1	2	1	3	0	6	6	3	0	5	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:26961698T>C	ENST00000528896.2	-	16	2981	c.2907A>G	c.(2905-2907)gcA>gcG	p.A969A	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.A826A|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.A826A	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	969						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)					GTTCTAGCCCTGCTAAGCTCC	0.537																																							0											0													111	111	111					17																	26961698		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2907A>G	17.37:g.26961698T>C			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.A969	ENST00000528896.2	37	c.2907	CCDS32595.1	17																																																																																			0	NULL		0.537	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	protein_coding	OTTHUMT00000390571.3	38	98	0	0.00	0	0	T	NM_014680	0	0		26961698	-1	no_errors	ENST00000528896	ensembl	human	known	74_37	silent	24	73	33.33	35.96	12	41	SNP	0.969	C	C	26961698	T	C	26961698	2	2	97	1	0	0	0	0	0	0	0	1	8154	1567	55	4		4	KIAA0100	17	26961698	Silent	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	591478	26961698	54233512	581	1780											
CRYBA1	1411	genome.wustl.edu	37	chr17	27580800	27580800	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagatacaaagtggggCgtaagtacaaaaacagggtt	17	7	12	5	1	0	2	0	1	0	1	0	2	0	2	0	3	3	3	0	3	7	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:27580800C>T	ENST00000225387.3	+	5	501	c.500C>T	c.(499-501)gCc>gTc	p.A167V		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	167	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CAAAGTGGGGCGTAAGTACAA	0.433																																							0											0													68	67	67					17																	27580800		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"eye lens structural protein"	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.500+1C>T	17.37:g.27580800C>T			Q13633|Q14CM9	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.A167V	ENST00000225387.3	37	c.500	CCDS11249.1	17	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859398	0.91433	.	.	ENSG00000108255	ENST00000225387	T	0.75938	-0.98	5.43	3.42	0.39159	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.202386	0.51477	D	0.000086	D	0.82332	0.5014	M	0.69463	2.115	0.58432	D	0.999998	D	0.89917	1.0	D	0.72982	0.979	T	0.81161	-0.1059	10	0.36615	T	0.2	.	11.9361	0.52874	0.0:0.854:0.0:0.146	.	167	P05813	CRBA1_HUMAN	V	167	ENSP00000225387:A167V	ENSP00000225387:A167V	A	+	2	0	CRYBA1	24604926	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	5.686000	0.68211	1.290000	0.44636	0.491000	0.48974	GCC	0	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.433	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBA1	protein_coding	OTTHUMT00000256071.2	106	307	0	0.65	0	2	C	NM_005208	0	0	Missense_Mutation	27580800	1	no_errors	ENST00000225387	ensembl	human	known	74_37	missense	73	241	23.71	27.33	23	91	SNP	1	T	T	27580800	C	T	27580800	5	4	97	1	0	0	0	0	0	0	1	0	3907	782	27	1	518	1	CRYBA1	17	27580800	Splice_Site	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	619102	27580800	53614410	582	1781											
ERBB2	2064	genome.wustl.edu	37	chr17	37881075	37881075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctggtgacacagcttatgCcctatggctgcctcttagac	8	11	10	12	0	1	2	0	1	1	1	1	2	1	2	2	2	4	3	2	2	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:37881075C>T	ENST00000269571.5	+	20	2563	c.2404C>T	c.(2404-2406)Ccc>Tcc	p.P802S	ERBB2_ENST00000445658.2_Missense_Mutation_p.P526S|ERBB2_ENST00000540147.1_Missense_Mutation_p.P772S|ERBB2_ENST00000584601.1_Missense_Mutation_p.P772S|ERBB2_ENST00000406381.2_Missense_Mutation_p.P772S|ERBB2_ENST00000584450.1_Missense_Mutation_p.P802S|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.P787S			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	ACAGCTTATGCCCTATGGCTG	0.592		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																													0		Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													78	72	74					17																	37881075		2203	4300	6503	SO:0001583	missense	0			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.2404C>T	17.37:g.37881075C>T	ENSP00000269571:p.Pro802Ser		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	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.P802S	ENST00000269571.5	37	c.2404	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771829	0.49680	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.70404	0.3220	L	0.31120	0.905	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;P;D	0.68353	0.957;0.803;0.957	T	0.73649	-0.3916	9	0.66056	D	0.02	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	526;787;802	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	S	772;787;526;802;772	ENSP00000385185:P772S;ENSP00000446466:P787S;ENSP00000404047:P526S;ENSP00000269571:P802S;ENSP00000443562:P772S	ENSP00000269571:P802S	P	+	1	0	ERBB2	35134601	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.051000	0.71072	2.478000	0.83669	0.563000	0.77884	CCC	0	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		0.592	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	protein_coding	OTTHUMT00000445621.2	52	90	0	0.00	0	0	C		0	0		37881075	1	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	43	87	14	13.00	7	13	SNP	1	T	T	37881075	C	T	37881075	3	4	97	1	0	0	0	0	1	0	0	0	5206	739	26	3	2482	3	ERBB2	17	37881075	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	10300275	37881075	43314135	583	1782											
KRT17	3872	genome.wustl.edu	37	chr17	39775850	39775850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggggtagctgagtcctcagCgggtggtctggtggacctgc	4	9	18	10	2	2	1	1	1	1	0	3	2	3	2	2	6	3	2	2	6	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:39775850C>T	ENST00000311208.8	-	8	1362	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	JUP_ENST00000540235.1_Missense_Mutation_p.R591H	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	432	Tail.				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)				GAGTCCTCAGCGGGTGGTCTG	0.677																																					Pancreas(92;1242 2086 39193 50508)		0											0													72	76	75					17																	39775850		2203	4300	6503	SO:0001583	missense	0			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.1295G>A	17.37:g.39775850C>T	ENSP00000308452:p.Arg432His		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	pfam_IF,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin	p.R591H	ENST00000311208.8	37	c.1772	CCDS11402.1	17	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279646	0.59758	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;T	0.82711	-1.64;-1.4	4.44	-4.64	0.03349	.	0.959820	0.08524	N	0.933015	T	0.62392	0.2424	N	0.08118	0	0.21147	N	0.999773	B	0.15930	0.015	B	0.10450	0.005	T	0.49781	-0.8903	10	0.87932	D	0	.	5.5203	0.16929	0.1298:0.3974:0.0:0.4728	.	432	Q04695	K1C17_HUMAN	H	432;591	ENSP00000308452:R432H;ENSP00000441751:R591H	ENSP00000441751:R591H	R	-	2	0	JUP;KRT17	37029376	0.202000	0.23423	0.062000	0.19696	0.418000	0.31294	-1.129000	0.03244	-1.161000	0.02800	-0.448000	0.05591	CGC	0	NULL		0.677	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	protein_coding	OTTHUMT00000257460.1	96	17	0	0.00	0	0	C	NM_000422	0	0		39775850	-1	no_errors	ENST00000540235	ensembl	human	known	74_37	missense	55	5	22.54	50.00	16	5	SNP	0.762	T	T	39775850	C	T	39775850	3	4	97	1	0	0	0	0	1	0	0	0	8454	768	27	1	7	1	KRT17	17	39775850	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1894775	39775850	41419360	584	1783											
DNAJC7	7266	genome.wustl.edu	37	chr17	40146920	40146920	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcttctcaaaatctgtttCtgctattttctcatattcca	8	19	3	11	1	4	0	2	0	4	0	8	0	5	0	1	0	1	3	1	0	4	7			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:40146920C>A	ENST00000457167.4	-	5	684	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	DNAJC7_ENST00000316603.7_Nonsense_Mutation_p.E94*|DNAJC7_ENST00000426588.3_Nonsense_Mutation_p.E94*	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	150					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				AAATCTGTTTCTGCTATTTTC	0.388																																					Colon(63;618 1117 8600 10857 19751)		0											0													124	114	117					17																	40146920		1851	4090	5941	SO:0001587	stop_gained	0			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.448G>T	17.37:g.40146920C>A	ENSP00000406463:p.Glu150*		Q7Z784	Nonsense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.E150*	ENST00000457167.4	37	c.448	CCDS45677.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.692282	0.96793	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	.	.	.	5.23	5.23	0.72850	.	0.090132	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	0.4593	19.1405	0.93444	0.0:1.0:0.0:0.0	.	.	.	.	X	150;94;94	.	ENSP00000313311:E94X	E	-	1	0	DNAJC7	37400446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.604000	0.88044	0.585000	0.79938	GAA	0	pfscan_TPR-contain_dom		0.388	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC7	protein_coding	OTTHUMT00000453366.2	70	245	0	0.00	0	0	C		0	0		40146920	-1	no_errors	ENST00000457167	ensembl	human	known	74_37	nonsense	38	205	30.91	34.71	17	109	SNP	1	A	A	40146920	C	A	40146920	4	1	97	1	0	0	0	0	0	1	0	0	4654	922	32	5	1076	5	DNAJC7	17	40146920	Nonsense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	371070	40146920	41048290	585	1784											
NKIRAS2	28511	genome.wustl.edu	37	chr17	40174435	40174435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcggagatgatcgagaCgcaggaggacatctacgtgg	11	7	16	7	4	1	3	0	1	1	2	3	7	1	5	0	5	1	2	0	5	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:40174435C>T	ENST00000307641.5	+	3	734	c.113C>T	c.(112-114)aCg>aTg	p.T38M	NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.T36M|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.T38M|NKIRAS2_ENST00000479407.1_Missense_Mutation_p.T38M|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.T38M|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.T38M|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.T38M|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.T38M	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	38	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)				ATGATCGAGACGCAGGAGGAC	0.537																																							0											0													55	53	53					17																	40174435		2203	4300	6503	SO:0001583	missense	0			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.113C>T	17.37:g.40174435C>T	ENSP00000303580:p.Thr38Met		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.T38M	ENST00000307641.5	37	c.113	CCDS11415.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480306	0.84747	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000449471;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-1.96;-2.33;-2.33;-2.33;-1.96	5.53	4.56	0.56223	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95828	0.8642	H	0.97540	4.025	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	0.97321	0.9944	10	0.87932	D	0	-15.0586	14.8786	0.70513	0.0:0.9307:0.0:0.0693	.	38;38;38	B4DNM3;E9PAZ8;Q9NYR9	.;.;KBRS2_HUMAN	M	38;36;38;38;38;38;38;38	ENSP00000303580:T38M;ENSP00000377462:T36M;ENSP00000401976:T38M;ENSP00000377458:T38M;ENSP00000377459:T38M;ENSP00000377463:T38M;ENSP00000312773:T38M	ENSP00000303580:T38M	T	+	2	0	NKIRAS2	37427961	1.000000	0.71417	0.837000	0.33122	0.930000	0.56654	7.818000	0.86416	1.484000	0.48361	0.585000	0.79938	ACG	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom		0.537	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NKIRAS2	protein_coding	OTTHUMT00000257457.1	30	137	0	0.00	0	0	C	NM_017595	0	0		40174435	1	no_errors	ENST00000307641	ensembl	human	known	74_37	missense	13	106	43.48	26.90	10	39	SNP	1	T	T	40174435	C	T	40174435	3	4	97	1	0	0	0	0	1	0	0	0	10445	536	19	1	119	1	NKIRAS2	17	40174435	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	27515	40174435	41020775	586	1785											
DHX58	79132	genome.wustl.edu	37	chr17	40262881	40262881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgatgacgttgtagaCggtgtccttgtgcgtgtggt	5	14	15	7	3	1	3	1	2	0	1	2	3	2	3	1	2	1	3	1	2	1	3	rs150385537		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:40262881C>T	ENST00000251642.3	-	5	643	c.421G>A	c.(421-423)Gtc>Atc	p.V141I		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	141	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		ACGTTGTAGACGGTGTCCTTG	0.587													C|||	1	0.000199681	8e-04	0	5008	,	,		19933	0		0	False		,,,				2504	0						0.9998,0.0001997											0								C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	187	160	169		421	2.8	0.8	17	dbSNP_134	169	0,8600		0,0,4300	no	missense	DHX58	NM_024119.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	141/679	40262881	2,13004	2203	4300	6503	SO:0001583	missense	0			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.421G>A	17.37:g.40262881C>T	ENSP00000251642:p.Val141Ile		Q9HAM6	Missense_Mutation	SNP	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.V141I	ENST00000251642.3	37	c.421	CCDS11416.1	17	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.06	2.722502	0.48728	4.54E-4	0.0	ENSG00000108771	ENST00000251642;ENST00000423748;ENST00000413196;ENST00000430773	T;T;T	0.35421	1.31;1.31;1.31	4.79	2.76	0.32466	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.240029	0.33364	N	0.004984	T	0.21962	0.0529	L	0.31476	0.935	0.39481	D	0.967898	P;P	0.44195	0.635;0.828	B;B	0.35770	0.141;0.21	T	0.03335	-1.1047	10	0.33940	T	0.23	.	10.2016	0.43087	0.0:0.8348:0.0:0.1652	.	134;141	B7Z455;Q96C10	.;DHX58_HUMAN	I	141;104;141;141	ENSP00000251642:V141I;ENSP00000416389:V141I;ENSP00000404639:V141I	ENSP00000251642:V141I	V	-	1	0	DHX58	37516407	0.949000	0.32298	0.849000	0.33467	0.873000	0.50193	2.176000	0.42500	0.424000	0.26061	0.555000	0.69702	GTC	0	pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.587	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX58	protein_coding	OTTHUMT00000257396.1	28	143	0	0.00	0	0	C	NM_024119	rs150385537	C->T		40262881	-1	no_errors	ENST00000251642	ensembl	human	known	74_37	missense	14	92	39.13	34.29	9	48	SNP	0.995	T	T	40262881	C	T	40262881	3	4	97	1	0	0	0	0	1	0	0	0	4514	536	19	1	1655	1	DHX58	17	40262881	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	88446	40262881	40932329	587	1786											
STAT5B	6777	genome.wustl.edu	37	chr17	40369192	40369192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttaccttgacttgaaaaaCcagctcatttccaccaacac	13	11	3	14	0	1	2	1	2	0	0	2	2	2	2	4	0	4	1	4	0	4	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:40369192C>A	ENST00000293328.3	-	11	1534	c.1366G>T	c.(1366-1368)Gtt>Ttt	p.V456F		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	456					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|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)|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)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|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 cellular component movement (GO:0051272)|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 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 natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|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)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|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)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ACTTGAAAAACCAGCTCATTT	0.428																																							0											0													70	61	64					17																	40369192		2203	4300	6503	SO:0001583	missense	0			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1366G>T	17.37:g.40369192C>A	ENSP00000293328:p.Val456Phe		Q8WWS8	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,smart_SH2,pfscan_SH2	p.V456F	ENST00000293328.3	37	c.1366	CCDS11423.1	17	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006365	0.93287	.	.	ENSG00000173757	ENST00000293328	D	0.87650	-2.28	4.88	4.88	0.63580	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.115611	0.64402	D	0.000020	D	0.93543	0.7939	M	0.83774	2.66	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	D	0.94435	0.7653	10	0.87932	D	0	-5.2986	18.2148	0.89881	0.0:1.0:0.0:0.0	.	456	P51692	STA5B_HUMAN	F	456	ENSP00000293328:V456F	ENSP00000293328:V456F	V	-	1	0	STAT5B	37622718	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.539000	0.82063	2.532000	0.85374	0.561000	0.74099	GTT	0	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.428	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	protein_coding	OTTHUMT00000319797.1	76	293	0	0.00	0	0	C	NM_012448	0	0		40369192	-1	no_errors	ENST00000293328	ensembl	human	known	74_37	missense	40	218	29.82	30.13	17	94	SNP	1	A	A	40369192	C	A	40369192	3	1	97	1	0	0	0	0	1	0	0	0	15268	507	18	5	1033	5	STAT5B	17	40369192	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	106311	40369192	40826018	588	1787											
TUBG2	27175	genome.wustl.edu	37	chr17	40815025	40815025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactccatcgctgggggtaCgggttctggcctgggctcct	3	11	14	13	2	2	0	1	0	1	0	5	0	4	0	3	5	1	4	3	5	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:40815025C>T	ENST00000251412.7	+	5	633	c.434C>T	c.(433-435)aCg>aTg	p.T145M		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	145					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCTGGGGGTACGGGTTCTGGC	0.522																																							0											0													122	107	112					17																	40815025		2203	4300	6503	SO:0001583	missense	0			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.434C>T	17.37:g.40815025C>T	ENSP00000251412:p.Thr145Met		A6NDI4|Q32NB2	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_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.T145M	ENST00000251412.7	37	c.434	CCDS32658.1	17	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685610	0.88639	.	.	ENSG00000037042	ENST00000251412	D	0.82711	-1.64	4.85	4.85	0.62838	Tubulin, conserved site (1);Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.95840	0.8646	H	0.99815	4.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98417	1.0575	10	0.87932	D	0	-15.0764	18.3064	0.90184	0.0:1.0:0.0:0.0	.	145	Q9NRH3	TBG2_HUMAN	M	145	ENSP00000251412:T145M	ENSP00000251412:T145M	T	+	2	0	TUBG2	38068551	1.000000	0.71417	0.695000	0.30226	0.933000	0.57130	7.250000	0.78287	2.410000	0.81850	0.655000	0.94253	ACG	0	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin		0.522	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	protein_coding	OTTHUMT00000452326.1	33	155	0	0.00	0	0	C	NM_016437	0	0		40815025	1	no_errors	ENST00000251412	ensembl	human	known	74_37	missense	12	134	36.84	28.72	7	54	SNP	0.994	T	T	40815025	C	T	40815025	3	4	97	1	0	0	0	0	1	0	0	0	16762	536	19	1	452	1	TUBG2	17	40815025	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	445833	40815025	40380185	589	1788											
GPATCH8	23131	genome.wustl.edu	37	chr17	42483347	42483348	+	Frame_Shift_Ins	INS	-	-	T																															cgccgaagggctttttcctgINSttttttctcatccttgcggg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:42483347_42483348insT	ENST00000591680.1	-	7	594_595	c.564_565insA	c.(562-567)aaacagfs	p.Q189fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.Q111fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	189							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)		GCTTTTTCCTGTTTTTTCTCAT	0.401																																							0											0																																										SO:0001589	frameshift_variant	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.565dupA	17.37:g.42483353_42483353dupT	ENSP00000467556:p.Gln189fs		B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.Q188fs	ENST00000591680.1	37	c.565_564	CCDS32666.1	17																																																																																			0	NULL		0.401	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	protein_coding	OTTHUMT00000457797.1	68	217	0	0.00	0	0	0	NM_001002909	0	0		42483348	-1	no_errors	ENST00000591680	ensembl	human	known	74_37	frame_shift_ins	55	175	25.68	26.16	19	62	INS	1.000:1.000	T	T	42483348	-	T	42483347	7	5	97	1	0	1	1	0	0	0	0	0	6594	1386	48	0	3951	0	GPATCH8	17	42483347	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	1668322	42483347	38711863	590	1789											
CDC27	996	genome.wustl.edu	37	chr17	45234694	45234694	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagttgggcagacagtTgctaaagttctgtaaagatg	13	10	13	5	0	1	3	0	0	1	3	1	3	1	3	0	1	1	7	0	1	5	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:45234694T>C	ENST00000066544.3	-	6	625	c.532A>G	c.(532-534)Aac>Gac	p.N178D	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Missense_Mutation_p.N178D|CDC27_ENST00000446365.2_Missense_Mutation_p.N117D|CDC27_ENST00000531206.1_Missense_Mutation_p.N178D	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	178					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|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 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)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGCAGACAGTTGCTAAAGTTC	0.398																																							0											0													75	76	75					17																	45234694		2203	4298	6501	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.532A>G	17.37:g.45234694T>C	ENSP00000066544:p.Asn178Asp		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N178D	ENST00000066544.3	37	c.532	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236980	0.22711	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66638	-0.22;-0.19;0.09;-0.22;0.93	5.39	5.39	0.77823	.	0.491584	0.24657	N	0.036675	T	0.44414	0.1292	N	0.08118	0	0.26707	N	0.971046	B;B;B;B	0.12013	0.005;0.001;0.003;0.001	B;B;B;B	0.12837	0.004;0.008;0.006;0.005	T	0.17471	-1.0368	10	0.11794	T	0.64	-29.9827	13.3763	0.60741	0.0:0.0:0.0:1.0	.	117;178;178;178	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	D	178;178;117;178;178	ENSP00000066544:N178D;ENSP00000434614:N178D;ENSP00000392802:N117D;ENSP00000437339:N178D;ENSP00000432105:N178D	ENSP00000066544:N178D	N	-	1	0	CDC27	42589693	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.136000	0.50554	2.053000	0.61076	0.528000	0.53228	AAC	0	NULL		0.398	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	protein_coding	OTTHUMT00000389742.2	49	61	0	0.00	0	0	T		0	0		45234694	-1	no_errors	ENST00000531206	ensembl	human	known	74_37	missense	37	62	28.85	28.74	15	25	SNP	1	C	C	45234694	T	C	45234694	3	2	97	1	0	0	0	0	1	0	0	0	3066	1812	63	3	2016	3	CDC27	17	45234694	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	2751347	45234694	35960516	591	1790											
ITGB3	3690	genome.wustl.edu	37	chr17	45360742	45360742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcctctgggctcacctcGctgtgacctgaaggagaatc	7	9	11	14	1	2	3	1	2	1	1	4	4	2	3	4	2	1	2	4	2	2	0	rs370054364		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:45360742G>A	ENST00000559488.1	+	3	204	c.188G>A	c.(187-189)cGc>cAc	p.R63H	ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H|ITGB3_ENST00000560629.1_Silent_p.S51S|ITGB3_ENST00000571680.1_Missense_Mutation_p.R63H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	63					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|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)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|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 complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GGCTCACCTCGCTGTGACCTG	0.572																																							0											0								G	HIS/ARG	0,4406		0,0,2203	71	64	67		188	5.9	1	17		67	2,8598	1.2+/-3.3	0,2,4298	no	missense	ITGB3	NM_000212.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	63/789	45360742	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.188G>A	17.37:g.45360742G>A	ENSP00000452786:p.Arg63His		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	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.R63H	ENST00000559488.1	37	c.188	CCDS11511.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.198349	0.94997	0.0	2.33E-4	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.95788	-3.81	5.88	5.88	0.94601	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98928	1.0786	10	0.87932	D	0	.	17.703	0.88301	0.0:0.0:1.0:0.0	.	63;63	P05106;Q2YFE1	ITB3_HUMAN;.	H	63;16	ENSP00000407801:R16H	ENSP00000262017:R63H	R	+	2	0	C17orf57	42715741	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.824000	0.99380	2.776000	0.95493	0.655000	0.94253	CGC	0	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N		0.572	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB3	protein_coding	OTTHUMT00000416111.3	41	112	0	0.88	0	1	G	NM_000212	rs370054364	G->A		45360742	1	no_errors	ENST00000559488	ensembl	human	known	74_37	missense	17	83	21.74	31.15	5	38	SNP	1	A	A	45360742	G	A	45360742	3	1	97	1	0	0	0	0	1	0	0	0	7895	1087	38	1	198	1	ITGB3	17	45360742	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	126048	45360742	35834468	592	1791											
HOXB5	3215	genome.wustl.edu	37	chr17	46670666	46670666	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcggtgaaattggcgcTggagctggctgaggtcgcct	6	12	15	8	3	0	2	0	2	0	0	2	3	0	3	1	5	1	3	1	5	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:46670666T>C	ENST00000239151.5	-	1	657	c.379A>G	c.(379-381)Agc>Ggc	p.S127G	HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000481995.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	127					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	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 positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						AAATTGGCGCTGGAGCTGGCT	0.682																																							0											0													30	33	32					17																	46670666		2203	4300	6503	SO:0001583	missense	0				CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"Homeoboxes / ANTP class : HOXL subclass"	5116	protein-coding gene	gene with protein product		142960	"homeo box B5"	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.379A>G	17.37:g.46670666T>C	ENSP00000239151:p.Ser127Gly		B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S127G	ENST00000239151.5	37	c.379	CCDS11530.1	17	.	.	.	.	.	.	.	.	.	.	T	7.789	0.711099	0.15239	.	.	ENSG00000120075	ENST00000239151	D	0.92348	-3.02	5.31	5.31	0.75309	.	0.229368	0.51477	D	0.000092	D	0.88273	0.6392	L	0.54323	1.7	0.40882	D	0.984001	B	0.02656	0.0	B	0.04013	0.001	D	0.83477	0.0062	10	0.22109	T	0.4	.	10.2256	0.43222	0.0:0.0789:0.0:0.9211	.	127	P09067	HXB5_HUMAN	G	127	ENSP00000239151:S127G	ENSP00000239151:S127G	S	-	1	0	HOXB5	44025665	1.000000	0.71417	0.996000	0.52242	0.606000	0.37113	1.913000	0.39956	2.007000	0.58848	0.374000	0.22700	AGC	0	NULL		0.682	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB5	protein_coding	OTTHUMT00000358148.2	49	86	0	0.00	0	0	T		0	0		46670666	-1	no_errors	ENST00000239151	ensembl	human	known	74_37	missense	43	59	25.42	19.18	15	14	SNP	0.998	C	C	46670666	T	C	46670666	3	2	97	1	0	0	0	0	1	0	0	0	7304	1580	55	4	438	4	HOXB5	17	46670666	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	1309924	46670666	34524544	593	1792											
OR4D2	124538	genome.wustl.edu	37	chr17	56247089	56247089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcagactcgggagctccagCgtttcctgtttctaatgttc	6	13	10	12	3	1	1	0	0	1	1	5	2	3	2	2	1	2	5	2	1	1	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:56247089C>T	ENST00000545221.1	+	1	73	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, 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)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGAGCTCCAGCGTTTCCTGTT	0.483																																							0											0													144	129	134					17																	56247089		2203	4300	6503	SO:0001583	missense	0				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.73C>T	17.37:g.56247089C>T	ENSP00000441354:p.Arg25Cys		Q6IFN8|Q96R75	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R25C	ENST00000545221.1	37	c.73	CCDS32688.1	17	.	.	.	.	.	.	.	.	.	.	C	9.787	1.176992	0.21787	.	.	ENSG00000255713	ENST00000545221	T	0.00433	7.43	5.4	-1.57	0.08506	.	1.541090	0.04006	N	0.297268	T	0.00271	0.0008	N	0.25485	0.75	0.26458	N	0.975496	P	0.46395	0.877	B	0.43331	0.416	T	0.35001	-0.9806	10	0.39692	T	0.17	-0.1619	1.4052	0.02279	0.1314:0.2623:0.3308:0.2755	.	25	P58180	OR4D2_HUMAN	C	25	ENSP00000441354:R25C	ENSP00000441354:R25C	R	+	1	0	OR4D2	53602088	0.000000	0.05858	0.844000	0.33320	0.030000	0.12068	-6.710000	0.00056	0.016000	0.14998	-0.466000	0.05196	CGT	0	NULL		0.483	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D2	protein_coding	OTTHUMT00000443366.1	42	210	0	0.00	0	0	C		0	0		56247089	1	no_errors	ENST00000545221	ensembl	human	known	74_37	missense	33	183	32.65	23.77	16	58	SNP	0.564	T	T	56247089	C	T	56247089	3	4	97	1	0	0	0	0	1	0	0	0	11056	768	27	1	75	1	OR4D2	17	56247089	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	9576423	56247089	24948121	594	1793											
LPO	4025	genome.wustl.edu	37	chr17	56321401	56321401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatactgtgagtcaggcCaaggtccaagtcaacaaggc	12	7	11	11	1	2	1	2	1	0	0	4	2	4	1	3	3	2	0	3	3	5	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:56321401C>T	ENST00000262290.4	+	3	439	c.123C>T	c.(121-123)gcC>gcT	p.A41A	LPO_ENST00000582328.1_Intron|LPO_ENST00000543544.1_Intron|LPO_ENST00000421678.2_Intron	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	41					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						TGAGTCAGGCCAAGGTCCAAG	0.557																																							0											0													158	117	131					17																	56321401		2203	4300	6503	SO:0001819	synonymous_variant	0			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.123C>T	17.37:g.56321401C>T			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.A41	ENST00000262290.4	37	c.123	CCDS32689.1	17																																																																																			0	NULL		0.557	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	protein_coding	OTTHUMT00000443961.1	30	95	0	0.00	0	0	C		0	0		56321401	1	no_errors	ENST00000262290	ensembl	human	known	74_37	silent	17	81	32	28.32	8	32	SNP	0.986	T	T	56321401	C	T	56321401	2	4	97	1	0	0	0	0	0	0	0	1	8922	581	21	3		3	LPO	17	56321401	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	74312	56321401	24873809	595	1794											
RAD51C	5889	genome.wustl.edu	37	chr17	56770051	56770051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcagcgggatttggtgaGtttcccgctgtctccagcgg	6	11	14	10	3	1	1	0	1	1	0	3	2	2	2	2	3	3	3	2	3	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:56770051G>A	ENST00000337432.4	+	1	118	c.47G>A	c.(46-48)aGt>aAt	p.S16N	TEX14_ENST00000389934.3_5'Flank|RAD51C_ENST00000487921.1_Intron|TEX14_ENST00000349033.5_5'Flank|RAD51C_ENST00000583539.1_Missense_Mutation_p.S16N|TEX14_ENST00000240361.8_5'Flank|RAD51C_ENST00000421782.2_Missense_Mutation_p.S16N	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	16	Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATTTGGTGAGTTTCCCGCTG	0.612								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																														0											0													82	79	80					17																	56770051		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BRCAX	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"Fanconi anemia, complementation groups"	9820	protein-coding gene	gene with protein product		602774	"RAD51 (S. cerevisiae) homolog C", "RAD51 homolog C (S. cerevisiae)"			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.47G>A	17.37:g.56770051G>A	ENSP00000336701:p.Ser16Asn		O43503|Q3B783	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.S16N	ENST00000337432.4	37	c.47	CCDS11611.1	17	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129259	0.56721	.	.	ENSG00000108384	ENST00000337432;ENST00000421782	T;T	0.45276	0.9;1.35	5.75	4.78	0.61160	.	0.386208	0.29737	N	0.011326	T	0.49133	0.1539	M	0.71581	2.175	0.38697	D	0.952895	P;P;P	0.41597	0.756;0.756;0.677	B;B;P	0.45428	0.138;0.398;0.48	T	0.54118	-0.8341	10	0.38643	T	0.18	-1.9841	13.3784	0.60752	0.0765:0.0:0.9235:0.0	.	7;16;16	B4E0G0;O43502;O43503	.;RA51C_HUMAN;.	N	16	ENSP00000336701:S16N;ENSP00000391450:S16N	ENSP00000336701:S16N	S	+	2	0	RAD51C	54125050	1.000000	0.71417	0.490000	0.27465	0.934000	0.57294	3.847000	0.55895	1.419000	0.47118	0.563000	0.77884	AGT	0	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like		0.612	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD51C	protein_coding	OTTHUMT00000280540.2	29	130	0	0.00	0	0	G	NM_058216	0	0		56770051	1	no_errors	ENST00000337432	ensembl	human	known	74_37	missense	32	128	21.95	33.33	9	64	SNP	0.995	A	A	56770051	G	A	56770051	3	1	97	1	0	0	0	0	1	0	0	0	12988	1029	36	3	49	3	RAD51C	17	56770051	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	448650	56770051	24425159	596	1795											
MRC2	9902	genome.wustl.edu	37	chr17	60743591	60743591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccaccacccaggactaCggcaaagacgagcgctgggg	10	4	14	13	3	0	1	0	0	0	1	0	3	0	2	3	4	3	2	3	4	2	1	rs564657391		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:60743591C>T	ENST00000303375.5	+	3	1059	c.657C>T	c.(655-657)taC>taT	p.Y219Y		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	219	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				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)	p.Y219Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCAGGACTACGGCAAAGACG	0.642																																							0											1	Substitution - coding silent(1)	large_intestine(1)											40	32	35					17																	60743591		2202	4298	6500	SO:0001819	synonymous_variant	0			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.657C>T	17.37:g.60743591C>T			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.Y219	ENST00000303375.5	37	c.657	CCDS11634.1	17																																																																																			0	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd		0.642	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	protein_coding	OTTHUMT00000445152.1	25	51	0	0.00	0	0	C		rs564657391	C->T		60743591	1	no_errors	ENST00000303375	ensembl	human	known	74_37	silent	19	29	36.67	32.56	11	14	SNP	0.398	T	T	60743591	C	T	60743591	2	4	97	1	0	0	0	0	0	0	0	1	9758	547	19	1		1	MRC2	17	60743591	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3973540	60743591	20451619	597	1796											
TANC2	26115	genome.wustl.edu	37	chr17	61482503	61482504	+	Frame_Shift_Ins	INS	-	-	G																															cctaacagctgcagccggaaINSggggcaaactggaggtgtgc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:61482503_61482504insG	ENST00000424789.2	+	18	3134_3135	c.3130_3131insG	c.(3130-3132)aggfs	p.R1044fs	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Frame_Shift_Ins_p.R1044fs|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1044					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						TGCAGCCGGAAGGGGCAAACTG	0.569																																							0											0																																										SO:0001589	frameshift_variant	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3134dupG	17.37:g.61482507_61482507dupG	ENSP00000387593:p.Arg1044fs		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Frame_Shift_Ins	INS	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.K1046fs	ENST00000424789.2	37	c.3130_3131	CCDS45754.1	17																																																																																			0	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.569	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	protein_coding	OTTHUMT00000444765.1	42	177	0	0.00	0	0	0		0	0		61482504	1	no_errors	ENST00000424789	ensembl	human	known	74_37	frame_shift_ins	18	146	18.18	27.00	4	54	INS	1.000:1.000	G	G	61482504	-	G	61482503	7	5	97	1	0	1	1	0	0	0	0	0	15542	63	3	0	3200	0	TANC2	17	61482503	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	738912	61482503	19712707	598	1797											
TSEN54	283989	genome.wustl.edu	37	chr17	73518111	73518111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccacacccttctgcgcGccccagccccagagctgctc	5	5	9	22	3	1	1	0	0	1	1	2	1	1	1	7	0	4	2	7	0	0	1	rs201125812	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:73518111G>A	ENST00000333213.6	+	8	985	c.949G>A	c.(949-951)Gcc>Acc	p.A317T		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	317					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)			CCTTCTGCGCGCCCCAGCCCC	0.652																																							0.9996,.,0.0003994											0													12	12	12					17																	73518111		2182	4280	6462	SO:0001583	missense	0			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.949G>A	17.37:g.73518111G>A	ENSP00000327487:p.Ala317Thr		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	NULL	p.A317T	ENST00000333213.6	37	c.949	CCDS11724.1	17	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270799	0.23221	.	.	ENSG00000182173	ENST00000333213	T	0.58060	0.36	5.24	5.24	0.73138	.	0.170208	0.52532	D	0.000075	T	0.47581	0.1453	M	0.68952	2.095	0.37613	D	0.920997	B	0.26547	0.152	B	0.15052	0.012	T	0.52801	-0.8527	10	0.40728	T	0.16	-8.068	9.6635	0.39969	0.0749:0.0:0.7828:0.1423	.	317	Q7Z6J9	SEN54_HUMAN	T	317	ENSP00000327487:A317T	ENSP00000327487:A317T	A	+	1	0	TSEN54	71029706	0.009000	0.17119	0.794000	0.32065	0.519000	0.34347	0.640000	0.24705	2.427000	0.82271	0.561000	0.74099	GCC	0	NULL		0.652	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	protein_coding	OTTHUMT00000447618.1	13	60	0	0.00	0	0	G	NM_207346	rs201125812	G->A,T		73518111	1	no_errors	ENST00000333213	ensembl	human	known	74_37	missense	10	53	23.08	20.90	3	14	SNP	0.716	A	A	73518111	G	A	73518111	3	1	97	1	0	0	0	0	1	0	0	0	16611	1087	38	1	979	1	TSEN54	17	73518111	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	12035608	73518111	7677099	599	1798											
TRIM65	201292	genome.wustl.edu	37	chr17	73888095	73888095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggtcagtcttacccaCgggggctaagtccacaggct	7	8	13	13	1	2	0	1	0	1	0	3	0	3	0	3	5	1	2	3	5	2	2	rs140475639		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:73888095C>T	ENST00000269383.3	-	4	981	c.916G>A	c.(916-918)Gtg>Atg	p.V306M		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	306						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCTTACCCACGGGGGCTAAG	0.682																																							0											0													11	13	12					17																	73888095		2117	4132	6249	SO:0001583	missense	0			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	27316	protein-coding gene	gene with protein product			"tripartite motif-containing 65"			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.916G>A	17.37:g.73888095C>T	ENSP00000269383:p.Val306Met		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	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_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V306M	ENST00000269383.3	37	c.916	CCDS11732.1	17	.	.	.	.	.	.	.	.	.	.	C	6.031	0.374152	0.11409	.	.	ENSG00000141569	ENST00000269383	T	0.57595	0.39	3.89	-7.79	0.01218	Concanavalin A-like lectin/glucanase (1);	1.618830	0.03658	N	0.242152	T	0.24890	0.0604	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.11329	0.006	T	0.13176	-1.0519	10	0.42905	T	0.14	.	1.4092	0.02287	0.1759:0.2249:0.1743:0.425	.	306	Q6PJ69	TRI65_HUMAN	M	306	ENSP00000269383:V306M	ENSP00000269383:V306M	V	-	1	0	TRIM65	71399690	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-4.641000	0.00204	-2.618000	0.00441	-2.126000	0.00345	GTG	0	superfamily_ConA-like_lec_gl_sf		0.682	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM65	protein_coding	OTTHUMT00000255170.2	15	36	0	0.00	0	0	C	NM_173547	0	0		73888095	-1	no_errors	ENST00000269383	ensembl	human	known	74_37	missense	18	33	18.18	25.00	4	11	SNP	0	T	T	73888095	C	T	73888095	3	4	97	1	0	0	0	0	1	0	0	0	16536	536	19	1	649	1	TRIM65	17	73888095	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	369984	73888095	7307115	600	1799											
AFMID	125061	genome.wustl.edu	37	chr17	76202113	76202113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagaatctgacccagaaGgacaacgtgctcacccaggt	12	7	11	11	1	2	3	1	2	1	2	2	5	2	4	2	2	2	2	2	2	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:76202113G>T	ENST00000327898.5	+	10	891	c.882G>T	c.(880-882)aaG>aaT	p.K294N	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000409257.5_Missense_Mutation_p.K289N|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_3'UTR					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)			TGACCCAGAAGGACAACGTGC	0.547																																							0											0													75	65	68					17																	76202113		2203	4300	6503	SO:0001583	missense	0			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.882G>T	17.37:g.76202113G>T	ENSP00000328938:p.Lys294Asn			Missense_Mutation	SNP	pfam_AB_hydrolase_3	p.K294N	ENST00000327898.5	37	c.882	CCDS45801.1	17	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345165	0.05208	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	.	.	.	4.14	1.93	0.25924	.	0.740216	0.12771	N	0.440558	T	0.24586	0.0596	L	0.29908	0.895	0.09310	N	0.999995	B;B	0.16396	0.01;0.017	B;B	0.12156	0.003;0.007	T	0.14035	-1.0487	9	0.27785	T	0.31	-3.7694	2.1118	0.03704	0.1155:0.1793:0.4939:0.2113	.	289;294	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	N	289;294	.	ENSP00000328938:K294N	K	+	3	2	AFMID	73713708	0.001000	0.12720	0.114000	0.21550	0.268000	0.26511	-0.322000	0.08007	0.933000	0.37291	0.561000	0.74099	AAG	0	NULL		0.547	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFMID	protein_coding	OTTHUMT00000333203.1	30	156	0	0.00	0	0	G	XM_058889	0	0		76202113	1	no_errors	ENST00000327898	ensembl	human	known	74_37	missense	16	104	33.33	26.24	8	37	SNP	0.04	T	T	76202113	G	T	76202113	3	4	97	1	0	0	0	0	1	0	0	0	362	991	35	5	920	5	AFMID	17	76202113	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2314018	76202113	4993097	601	1800											
DNAH17	8632	genome.wustl.edu	37	chr17	76522783	76522783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgaaggagaacggggcctCgcgcctgaacctctccctga	8	6	13	14	3	1	4	0	3	1	1	3	5	1	4	4	3	2	1	4	3	3	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:76522783C>T	ENST00000585328.1	-	24	3776	c.3652G>A	c.(3652-3654)Gag>Aag	p.E1218K	DNAH17_ENST00000389840.5_Missense_Mutation_p.E1221K	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1221	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)			AACGGGGCCTCGCGCCTGAAC	0.587																																							0											0													47	50	49					17																	76522783		1967	4145	6112	SO:0001583	missense	0			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.3652G>A	17.37:g.76522783C>T	ENSP00000465516:p.Glu1218Lys		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.E1221K	ENST00000585328.1	37	c.3661		17	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.896695	0.00522	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.21932	1.98	4.37	1.2	0.21068	.	.	.	.	.	T	0.13543	0.0328	L	0.33339	1.005	0.09310	N	1	.	.	.	.	.	.	T	0.35525	-0.9785	7	0.09338	T	0.73	.	7.0326	0.24975	0.0:0.6363:0.135:0.2287	.	.	.	.	K	1218;1221	ENSP00000374490:E1221K	ENSP00000300671:E1218K	E	-	1	0	DNAH17	74034378	0.056000	0.20664	0.027000	0.17364	0.008000	0.06430	0.616000	0.24344	0.340000	0.23745	-2.325000	0.00251	GAG	0	NULL		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	67	137	0	0.00	0	0	C	NM_173628	0	0		76522783	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	33	106	21.43	29.33	9	44	SNP	0.169	T	T	76522783	C	T	76522783	3	4	97	1	0	0	0	0	1	0	0	0	4601	893	31	2	9959	2	DNAH17	17	76522783	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	320670	76522783	4672427	602	1801											
CCDC40	55036	genome.wustl.edu	37	chr17	78069070	78069070	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtctcccaggtcaggctCgggcagctgctgaagcagca	7	7	13	14	1	2	1	1	1	1	0	4	1	2	1	2	3	4	6	2	3	1	0	rs573028412		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:78069070C>T	ENST00000397545.4	+	18	2868	c.2841C>T	c.(2839-2841)ctC>ctT	p.L947L		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	947					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)			AGGTCAGGCTCGGGCAGCTGC	0.682													C|||	1	0.000199681	0	0	5008	,	,		15878	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0													35	41	39					17																	78069070		2070	4187	6257	SO:0001819	synonymous_variant	0			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.2841C>T	17.37:g.78069070C>T			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	pfam_E3_ubiquit_lig_BRE1	p.L947	ENST00000397545.4	37	c.2841	CCDS42395.1	17																																																																																			0	NULL		0.682	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	protein_coding	OTTHUMT00000256005.2	67	35	0	0.00	0	0	C	XM_371082	rs573028412	C->T		78069070	1	no_errors	ENST00000397545	ensembl	human	known	74_37	silent	43	40	25.86	23.08	15	12	SNP	0	T	T	78069070	C	T	78069070	2	4	97	1	0	0	0	0	0	0	0	1	2812	871	31	2		2	CCDC40	17	78069070	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1546287	78069070	3126140	603	1802											
RNF213	57674	genome.wustl.edu	37	chr17	78247137	78247137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcccgtgcttgttcccGggctcagacagttggcaaga	6	8	16	11	2	1	2	1	0	0	2	2	2	2	2	2	4	1	5	2	4	1	3	rs370520790		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:78247137G>A	ENST00000582970.1	+	3	338	c.195G>A	c.(193-195)ccG>ccA	p.P65P	RNF213_ENST00000508628.2_Silent_p.P65P|RNF213_ENST00000319921.4_Silent_p.P65P|RNF213_ENST00000456466.1_Silent_p.P65P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	65					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)			GCTTGTTCCCGGGCTCAGACA	0.612																																							0											0								G	,	1,4403	2.1+/-5.4	0,1,2201	74	72	73		195,195	-1.6	0	17		73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RNF213	NM_020914.4,NM_020954.2	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	65/5257,65/1064	78247137	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.195G>A	17.37:g.78247137G>A			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.P65	ENST00000582970.1	37	c.195	CCDS58606.1	17																																																																																			0	NULL		0.612	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	38	149	0	0.00	0	0	G	NM_020914	rs370520790	G->A		78247137	1	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	7	138	30	23.63	3	43	SNP	0	A	A	78247137	G	A	78247137	2	1	97	1	0	0	0	0	0	0	0	1	13477	1103	39	2		2	RNF213	17	78247137	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	178067	78247137	2948073	604	1803											
C17orf62	79415	genome.wustl.edu	37	chr17	80401910	80401910	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagggtcaccggcctcActgtcgctgctctgagacag	6	9	12	14	2	3	1	2	1	1	1	4	2	3	1	2	2	2	3	2	2	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:80401910A>G	ENST00000437807.2	-	8	851	c.534T>C	c.(532-534)agT>agC	p.S178S	C17orf62_ENST00000577732.1_Silent_p.S178S|C17orf62_ENST00000585080.1_Silent_p.S178S|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000306645.5_Silent_p.S178S|C17orf62_ENST00000434650.2_Silent_p.S164S|C17orf62_ENST00000577436.1_Silent_p.S164S|C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000342572.8_Silent_p.S54S|C17orf62_ENST00000578919.1_Silent_p.S178S|C17orf62_ENST00000336995.7_Missense_Mutation_p.V30A|C17orf62_ENST00000585064.1_Silent_p.S178S	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	178						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CACCGGCCTCACTGTCGCTGC	0.647																																							0											0													107	102	104					17																	80401910		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.534T>C	17.37:g.80401910A>G			E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.V30A	ENST00000437807.2	37	c.89	CCDS32776.1	17	.	.	.	.	.	.	.	.	.	.	A	8.282	0.815808	0.16607	.	.	ENSG00000178927	ENST00000342572;ENST00000536759;ENST00000336995	.	.	.	4.98	-3.63	0.04529	.	.	.	.	.	T	0.21631	0.0521	.	.	.	0.23421	N	0.997714	P	0.35745	0.518	B	0.39562	0.303	T	0.22695	-1.0209	7	0.26408	T	0.33	.	3.1105	0.06356	0.4214:0.1067:0.3574:0.1145	.	68	Q8NEZ9	.	A	68;35;30	.	ENSP00000337560:V30A	V	-	2	0	C17orf62	77995199	0.023000	0.18921	0.825000	0.32803	0.161000	0.22273	-1.204000	0.03017	-0.655000	0.05387	-0.441000	0.05720	GTG	0	NULL		0.647	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	protein_coding	OTTHUMT00000443260.1	41	48	0	0.00	0	0	A	NM_001033046	0	0		80401910	-1	no_errors	ENST00000336995	ensembl	human	known	74_37	missense	30	58	21.05	6.45	8	4	SNP	0.904	G	G	80401910	A	G	80401910	2	3	97	1	0	0	0	0	0	0	0	1	1870	156	6	3		3	C17orf62	17	80401910	Silent	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	2154773	80401910	793300	605	1804											
ANKRD12	23253	genome.wustl.edu	37	chr18	9256772	9256773	+	Frame_Shift_Ins	INS	-	-	A																															gatcacaatctgttgacaccINSaaaaatgtaatgactttagg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr18:9256772_9256773insA	ENST00000262126.4	+	9	3747_3748	c.3507_3508insA	c.(3508-3510)aaafs	p.K1170fs	ANKRD12_ENST00000383440.2_Frame_Shift_Ins_p.K1147fs|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Frame_Shift_Ins_p.K1147fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1170						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						CTGTTGACACCAAAAATGTAAT	0.381																																							0											0																																										SO:0001589	frameshift_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3512dupA	18.37:g.9256777_9256777dupA	ENSP00000262126:p.Lys1170fs		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	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.N1170fs	ENST00000262126.4	37	c.3507_3508	CCDS11843.1	18																																																																																			0	NULL		0.381	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	protein_coding	OTTHUMT00000254478.2	47	211	0	0.00	0	0	0	NM_015208	0	0		9256773	1	no_errors	ENST00000262126	ensembl	human	known	74_37	frame_shift_ins	46	230	22.03	17.27	13	48	INS	0.998:1.000	A	A	9256773	-	A	9256772	7	5	97	1	0	1	1	0	0	0	0	0	640	581	21	0	3537	0	ANKRD12	18	9256772	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09		9256772	68820476	606	1805											
RBBP8	5932	genome.wustl.edu	37	chr18	20606151	20606151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctcgtccaaaaagacGtcagccttacaacgcaatat	13	10	6	12	3	1	1	1	0	0	1	4	1	3	1	3	0	3	1	3	0	6	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr18:20606151G>A	ENST00000399722.2	+	19	2993	c.2642G>A	c.(2641-2643)cGt>cAt	p.R881H	Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000581687.1_Missense_Mutation_p.R59H|RBBP8_ENST00000360790.5_Missense_Mutation_p.R886H|RBBP8_ENST00000399725.2_Missense_Mutation_p.V849I|RBBP8_ENST00000327155.5_Missense_Mutation_p.R881H	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	881					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)			CCAAAAAGACGTCAGCCTTAC	0.368								Homologous recombination																															0											0													124	110	115					18																	20606151		2203	4300	6503	SO:0001583	missense	0			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.2642G>A	18.37:g.20606151G>A	ENSP00000382628:p.Arg881His		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.R881H	ENST00000399722.2	37	c.2642	CCDS11875.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.75|12.75	2.032951|2.032951	0.35893|0.35893	.|.	.|.	ENSG00000101773|ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790|ENST00000399725;ENST00000399721	T;T;T|T	0.46819|0.31510	0.86;0.86;0.87|1.49	5.64|5.64	3.84|3.84	0.44239|0.44239	.|.	0.169380|.	0.51477|.	D|.	0.000083|.	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.29908|0.29908	0.895|0.895	0.46222|0.46222	D|D	0.998932|0.998932	D;D|B	0.89917|0.32338	1.0;1.0|0.365	D;D|B	0.87578|0.21151	0.998;0.996|0.033	T|T	0.08391|0.08391	-1.0724|-1.0724	10|9	0.87932|0.87932	D|D	0|0	-2.7371|-2.7371	11.8352|11.8352	0.52319|0.52319	0.1442:0.0:0.8558:0.0|0.1442:0.0:0.8558:0.0	.|.	886;881|849	E7ETY1;Q99708|A6NKN2	.;COM1_HUMAN|.	H|I	881;881;886|849	ENSP00000323050:R881H;ENSP00000382628:R881H;ENSP00000354024:R886H|ENSP00000382630:V849I	ENSP00000323050:R881H|ENSP00000382627:V849I	R|V	+|+	2|1	0|0	RBBP8|RBBP8	18860149|18860149	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.809000|0.809000	0.45718|0.45718	7.756000|7.756000	0.85195|0.85195	1.389000|1.389000	0.46526|0.46526	-0.140000|-0.140000	0.14226|0.14226	CGT|GTC	0	NULL		0.368	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	protein_coding	OTTHUMT00000446387.1	69	307	0	0.32	0	1	G	NM_203291	0	0		20606151	1	no_errors	ENST00000327155	ensembl	human	known	74_37	missense	36	236	25	25.24	12	80	SNP	1	A	A	20606151	G	A	20606151	3	1	97	1	0	0	0	0	1	0	0	0	13105	1145	40	1	2712	1	RBBP8	18	20606151	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	11349379	20606151	57471097	607	1806											
ELAC1	55520	genome.wustl.edu	37	chr18	48500887	48500887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgctggctctttgactgtgGggagggaacacagacacagc	9	8	15	9	0	1	2	0	1	1	1	1	4	1	4	0	4	3	2	0	4	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr18:48500887G>T	ENST00000269466.3	+	2	220	c.113G>T	c.(112-114)gGg>gTg	p.G38V	SMAD4_ENST00000452201.2_5'UTR|ELAC1_ENST00000591429.1_Missense_Mutation_p.G38V|RP11-729L2.2_ENST00000588256.1_3'UTR|RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.G38V|ELAC1_ENST00000588577.1_Missense_Mutation_p.G38V	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	38					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TTTGACTGTGGGGAGGGAACA	0.502																																							0											0													155	138	144					18																	48500887		2203	4300	6503	SO:0001583	missense	0			AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"tRNA Z (short form)", "RNaseZ(S)"	608079	"elaC (E. coli) homolog 1", "elaC homolog 1 (E. coli)"			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.113G>T	18.37:g.48500887G>T	ENSP00000269466:p.Gly38Val		Q9NS99	Missense_Mutation	SNP	pfam_Beta-lactamas-like,tigrfam_RNase_Z	p.G38V	ENST00000269466.3	37	c.113	CCDS11949.1	18	.	.	.	.	.	.	.	.	.	.	G	31	5.081224	0.94050	.	.	ENSG00000141642	ENST00000269466	T	0.66995	-0.24	5.92	5.92	0.95590	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92150	0.5727	10	0.87932	D	0	.	19.1473	0.93473	0.0:0.0:1.0:0.0	.	38;38	Q53EY2;Q9H777	.;RNZ1_HUMAN	V	38	ENSP00000269466:G38V	ENSP00000269466:G38V	G	+	2	0	ELAC1	46754885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.410000	0.97335	2.826000	0.97356	0.650000	0.86243	GGG	0	pfam_Beta-lactamas-like,tigrfam_RNase_Z		0.502	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC1	protein_coding	OTTHUMT00000255992.2	87	202	0	0.98	0	2	G		0	0		48500887	1	no_errors	ENST00000269466	ensembl	human	known	74_37	missense	55	204	20	14.64	14	35	SNP	1	T	T	48500887	G	T	48500887	3	4	97	1	0	0	0	0	1	0	0	0	5046	1232	43	5	115	5	ELAC1	18	48500887	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	27894736	48500887	29576361	608	1807											
SALL3	27164	genome.wustl.edu	37	chr18	76755157	76755157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctagcctgatctccagcGccgcacccaccatgatcaaa	10	7	6	18	2	2	2	1	2	1	0	4	2	3	2	6	0	2	1	6	0	2	1	rs139036373		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr18:76755157G>A	ENST00000537592.2	+	2	3166	c.3166G>A	c.(3166-3168)Gcc>Acc	p.A1056T	SALL3_ENST00000536229.3_Missense_Mutation_p.A851T|SALL3_ENST00000575389.2_Missense_Mutation_p.A984T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1056					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)		GATCTCCAGCGCCGCACCCAC	0.607																																							0											0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	75	74	74		3166	-0.2	0	18	dbSNP_134	74	0,8600		0,0,4300	no	missense	SALL3	NM_171999.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1056/1301	76755157	1,13005	2203	4300	6503	SO:0001583	missense	0			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.3166G>A	18.37:g.76755157G>A	ENSP00000441823:p.Ala1056Thr		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1056T	ENST00000537592.2	37	c.3166	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	G	4.522	0.096948	0.08681	2.27E-4	0.0	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T;T	0.09630	2.96;3.16	4.97	-0.161	0.13371	.	0.654481	0.13133	N	0.411306	T	0.03053	0.0090	N	0.03608	-0.345	0.22435	N	0.999104	B;B	0.15473	0.013;0.001	B;B	0.08055	0.003;0.001	T	0.43507	-0.9387	10	0.13853	T	0.58	-8.7291	1.1853	0.01854	0.4501:0.1495:0.2579:0.1424	.	716;1056	F5GXY4;Q9BXA9	.;SALL3_HUMAN	T	1056;984;716	ENSP00000441823:A1056T;ENSP00000439975:A984T	ENSP00000299466:A1056T	A	+	1	0	SALL3	74856145	0.977000	0.34250	0.003000	0.11579	0.076000	0.17211	1.143000	0.31553	0.034000	0.15491	0.462000	0.41574	GCC	0	NULL		0.607	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	protein_coding	OTTHUMT00000256397.1	55	122	0	0.00	0	0	G	NM_171999	rs139036373	G->A		76755157	1	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	33	118	25	21.71	11	33	SNP	0.943	A	A	76755157	G	A	76755157	3	1	97	1	0	0	0	0	1	0	0	0	13812	1087	38	1	3172	1	SALL3	18	76755157	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	28254270	76755157	1322091	609	1808											
NFATC1	4772	genome.wustl.edu	37	chr18	77171098	77171098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcctcaacggccggcagCcgccctactcaccccaccac	9	3	7	22	3	2	0	2	0	0	0	2	0	2	0	7	2	4	1	7	2	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr18:77171098C>T	ENST00000427363.2	+	2	823	c.823C>T	c.(823-825)Ccg>Tcg	p.P275S	NFATC1_ENST00000586434.1_Missense_Mutation_p.P262S|NFATC1_ENST00000592223.1_Missense_Mutation_p.P262S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P275S|NFATC1_ENST00000542384.1_Missense_Mutation_p.P275S|NFATC1_ENST00000591814.1_Missense_Mutation_p.P275S|NFATC1_ENST00000329101.4_Missense_Mutation_p.P262S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.P275S|NFATC1_ENST00000318065.5_Missense_Mutation_p.P262S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	275	3 X SP repeats.				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)	CGGCCGGCAGCCGCCCTACTC	0.701																																					GBM(151;1210 2593 28719 45011)		0											0													18	19	19					18																	77171098		2169	4248	6417	SO:0001583	missense	0			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.823C>T	18.37:g.77171098C>T	ENSP00000389377:p.Pro275Ser		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.P275S	ENST00000427363.2	37	c.823		18	.	.	.	.	.	.	.	.	.	.	C	5.070	0.198564	0.09652	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T;T	0.79554	-1.03;-1.03;-1.03;-1.28	4.66	1.47	0.22746	.	1.228140	0.05911	N	0.631736	T	0.65133	0.2662	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B;B;B	0.22983	0.078;0.078;0.045;0.064;0.064;0.066;0.078	B;B;B;B;B;B;B	0.21546	0.035;0.035;0.035;0.031;0.031;0.028;0.035	T	0.55483	-0.8134	10	0.02654	T	1	-14.5542	6.423	0.21754	0.3649:0.3764:0.2587:0.0	.	262;262;275;275;275;262;275	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	S	275;275;275;262;262;239	ENSP00000253506:P275S;ENSP00000442435:P275S;ENSP00000327850:P262S;ENSP00000389377:P262S	ENSP00000253506:P275S	P	+	1	0	NFATC1	75272086	0.005000	0.15991	0.800000	0.32199	0.421000	0.31385	0.037000	0.13840	0.537000	0.28751	-0.211000	0.12701	CCG	0	NULL		0.701	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	protein_coding	OTTHUMT00000450507.1	11	65	0	0.00	0	0	C	NM_172390	0	0		77171098	1	no_errors	ENST00000427363	ensembl	human	known	74_37	missense	11	50	15.38	30.56	2	22	SNP	0.982	T	T	77171098	C	T	77171098	3	4	97	1	0	0	0	0	1	0	0	0	10361	739	26	3	921	3	NFATC1	18	77171098	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	415941	77171098	906150	610	1809											
REXO1	57455	genome.wustl.edu	37	chr19	1828492	1828492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccagctccacctcactgCgcacggcctcgatggcctgg	5	7	11	18	3	1	0	1	0	0	0	4	1	3	0	5	3	2	3	5	3	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:1828492C>T	ENST00000170168.4	-	2	390	c.296G>A	c.(295-297)cGc>cAc	p.R99H	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	99						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)		CACCTCACTGCGCACGGCCTC	0.751																																							0											0													20	20	20					19																	1828492		2201	4295	6496	SO:0001583	missense	0			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.296G>A	19.37:g.1828492C>T	ENSP00000170168:p.Arg99His		Q9ULT2	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.R99H	ENST00000170168.4	37	c.296	CCDS32866.1	19	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329970	0.81690	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.20738	2.05	3.77	3.77	0.43336	.	0.310875	0.29100	N	0.013152	T	0.39279	0.1072	M	0.72894	2.215	0.38746	D	0.953998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.94	T	0.37549	-0.9701	10	0.66056	D	0.02	-27.9203	5.471	0.16670	0.0:0.7642:0.0:0.2358	.	53;99	F5H016;Q8N1G1	.;REXO1_HUMAN	H	99;53	ENSP00000170168:R99H	ENSP00000170168:R99H	R	-	2	0	REXO1	1779492	0.943000	0.32029	0.978000	0.43139	0.990000	0.78478	1.828000	0.39111	2.096000	0.63516	0.462000	0.41574	CGC	0	NULL		0.751	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	protein_coding	OTTHUMT00000449200.1	53	47	0	0.00	0	0	C	NM_020695	0	0		1828492	-1	no_errors	ENST00000170168	ensembl	human	known	74_37	missense	20	20	33.33	48.72	10	19	SNP	0.958	T	T	1828492	C	T	1828492	3	4	97	1	0	0	0	0	1	0	0	0	13241	768	27	1	3429	1	REXO1	19	1828492	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09		1828492	57300491	611	1810											
MOBKL2A	126308	genome.wustl.edu	37	chr19	2078278	2078278	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcggtactcatacttgggGccccccgacatgacggggca	8	6	13	14	3	1	1	1	1	0	0	1	2	1	1	3	5	3	2	3	5	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:2078278G>C	ENST00000357066.3	-	3	661	c.282C>G	c.(280-282)ggC>ggG	p.G94G	MOB3A_ENST00000592280.1_Silent_p.G94G|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	94						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.K96fs*3(1)									CATACTTGGGGCCCCCCGACA	0.612																																							0											1	Insertion - Frameshift(1)	large_intestine(1)											70	54	59					19																	2078278		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.282C>G	19.37:g.2078278G>C			B3KTF1|O75249|Q8TF69	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.G94	ENST00000357066.3	37	c.282	CCDS12081.1	19																																																																																			0	pfam_Mob1_phocein,superfamily_Mob1_phocein		0.612	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3A	protein_coding	OTTHUMT00000450893.1	68	90	0	0.00	0	0	G	NM_130807	0	0		2078278	-1	no_errors	ENST00000357066	ensembl	human	known	74_37	silent	44	99	34.33	27.74	23	38	SNP	0.999	C	C	2078278	G	C	2078278	2	2	97	1	0	0	0	0	0	0	0	1	9684	1190	42	5		5	MOBKL2A	19	2078278	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	249786	2078278	57050705	612	1811											
TMPRSS9	360200	genome.wustl.edu	37	chr19	2421915	2421915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttatctggcagggatcGtgagctggggtattggctgc	5	14	16	6	1	1	1	0	1	1	0	2	2	1	2	0	5	2	5	0	5	2	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:2421915G>A	ENST00000332578.3	+	13	2116	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	706	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)		GGCAGGGATCGTGAGCTGGGG	0.612																																							0											0													70	69	69					19																	2421915		2203	4300	6503	SO:0001583	missense	0			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.2116G>A	19.37:g.2421915G>A	ENSP00000330264:p.Val706Met		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.V706M	ENST00000332578.3	37	c.2116	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523286	0.64747	.	.	ENSG00000178297	ENST00000332578	T	0.64618	-0.11	4.59	4.59	0.56863	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.50627	D	0.000105	D	0.84224	0.5425	H	0.94734	3.575	0.45762	D	0.998653	D	0.89917	1.0	D	0.74674	0.984	D	0.89328	0.3645	10	0.87932	D	0	.	15.9794	0.80094	0.0:0.0:1.0:0.0	.	706	Q7Z410	TMPS9_HUMAN	M	706	ENSP00000330264:V706M	ENSP00000330264:V706M	V	+	1	0	TMPRSS9	2372915	1.000000	0.71417	0.974000	0.42286	0.577000	0.36160	7.516000	0.81772	2.101000	0.63845	0.561000	0.74099	GTG	0	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.612	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	protein_coding	OTTHUMT00000451330.3	61	156	0	0.00	0	0	G	NM_182973	0	0		2421915	1	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	47	146	22.95	28.64	14	59	SNP	0.999	A	A	2421915	G	A	2421915	3	1	97	1	0	0	0	0	1	0	0	0	16250	1145	40	1	2166	1	TMPRSS9	19	2421915	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	343637	2421915	56707068	613	1812											
TBXA2R	6915	genome.wustl.edu	37	chr19	3595731	3595731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggggctggagggacagCgacctgggccgggtgctgag	6	5	21	9	2	0	1	0	1	0	0	0	4	0	3	2	6	3	3	2	6	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:3595731C>T	ENST00000375190.4	-	3	1380	c.987G>A	c.(985-987)tcG>tcA	p.S329S	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A200T|TBXA2R_ENST00000411851.3_Intron	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	329					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GGAGGGACAGCGACCTGGGCC	0.706																																							0											0													13	17	16					19																	3595731		2117	4236	6353	SO:0001819	synonymous_variant	0				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.987G>A	19.37:g.3595731C>T			O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt	p.A200T	ENST00000375190.4	37	c.598	CCDS42467.1	19																																																																																			0	NULL		0.706	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBXA2R	protein_coding	OTTHUMT00000453081.2	31	31	0	0.00	0	0	C		0	0		3595731	-1	no_errors	ENST00000589966	ensembl	human	putative	74_37	missense	20	17	28.57	46.88	8	15	SNP	0	T	T	3595731	C	T	3595731	2	4	97	1	0	0	0	0	0	0	0	1	15660	755	27	1		1	TBXA2R	19	3595731	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1173816	3595731	55533252	614	1813											
SAFB	6294	genome.wustl.edu	37	chr19	5667070	5667070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagcattacccagaacGccatggaggaccagagcgcc	11	5	11	14	2	0	2	0	0	0	2	1	4	1	4	5	2	4	1	5	2	2	1	rs368894379		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:5667070G>A	ENST00000292123.5	+	18	2455	c.2348G>A	c.(2347-2349)cGc>cAc	p.R783H	SAFB_ENST00000433404.1_Missense_Mutation_p.R613H|SAFB_ENST00000592224.1_Missense_Mutation_p.R782H|SAFB_ENST00000588852.1_Missense_Mutation_p.R783H|SAFB_ENST00000538656.1_Missense_Mutation_p.R625H|SAFB_ENST00000454510.1_Missense_Mutation_p.R714H	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	783	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TACCCAGAACGCCATGGAGGA	0.612																																					Colon(88;338 1345 6184 8214 20897)		0											0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	65	73	70		2348,2345,2141,2348	5.4	1	19		70	1,8595		0,1,4297	no	missense,missense,missense,missense	SAFB	NM_001201338.1,NM_001201339.1,NM_001201340.1,NM_002967.3	29,29,29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	783/918,782/917,714/849,783/916	5667070	1,13001	2203	4298	6501	SO:0001583	missense	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2348G>A	19.37:g.5667070G>A	ENSP00000292123:p.Arg783His		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.R783H	ENST00000292123.5	37	c.2348	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741882	0.69304	0.0	1.16E-4	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.13420	2.66;2.83;2.59;2.62	5.4	5.4	0.78164	.	0.260386	0.27956	N	0.017166	T	0.34716	0.0907	L	0.55213	1.73	0.54753	D	0.999981	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	0.85130	0.994;0.994;0.997;0.994;0.994;0.994;0.994	T	0.01232	-1.1411	10	0.59425	D	0.04	-17.8019	17.7057	0.88309	0.0:0.0:1.0:0.0	.	582;625;714;782;783;783;782	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	H	714;678;613;783;625	ENSP00000415895:R714H;ENSP00000404545:R613H;ENSP00000292123:R783H;ENSP00000438880:R625H	ENSP00000292123:R783H	R	+	2	0	SAFB	5618070	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	5.853000	0.69496	2.680000	0.91292	0.555000	0.69702	CGC	0	NULL		0.612	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	protein_coding	OTTHUMT00000451641.2	38	88	0	0.00	0	0	G		rs368894379	G->A		5667070	1	no_errors	ENST00000588852	ensembl	human	known	74_37	missense	38	78	20	30.70	10	35	SNP	1	A	A	5667070	G	A	5667070	3	1	97	1	0	0	0	0	1	0	0	0	13806	1087	38	1	2418	1	SAFB	19	5667070	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2071339	5667070	53461913	615	1814											
MLLT1	4298	genome.wustl.edu	37	chr19	6262264	6262264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttgaagtgcacctcgatgGgcatgatgaagccagcgtac	10	10	12	9	2	0	3	0	3	0	0	1	4	0	3	2	1	4	3	2	1	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:6262264G>T	ENST00000252674.7	-	3	414	c.251C>A	c.(250-252)cCc>cAc	p.P84H	CTC-503J8.4_ENST00000588192.1_RNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	84	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CACCTCGATGGGCATGATGAA	0.562			T	MLL	AL																																		0		Dom	yes		19	19p13.3	4298	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"		L	0													98	84	89					19																	6262264		2203	4300	6503	SO:0001583	missense	0				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.251C>A	19.37:g.6262264G>T	ENSP00000252674:p.Pro84His		Q14768	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.P84H	ENST00000252674.7	37	c.251	CCDS12160.1	19	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375095	0.82682	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.6	4.56	0.56223	.	0.056386	0.64402	D	0.000001	T	0.78149	0.4238	M	0.81942	2.565	0.58432	D	0.999999	D	0.71674	0.998	D	0.77004	0.989	T	0.80567	-0.1325	9	0.72032	D	0.01	-16.9594	11.408	0.49908	0.0895:0.0:0.9105:0.0	.	84	Q03111	ENL_HUMAN	H	84	.	ENSP00000252674:P84H	P	-	2	0	MLLT1	6213264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.870000	0.87175	1.339000	0.45563	0.561000	0.74099	CCC	0	pfam_YEATS,pfscan_YEATS		0.562	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT1	protein_coding	OTTHUMT00000452909.1	28	148	0	0.00	0	0	G	NM_005934	0	0		6262264	-1	no_errors	ENST00000252674	ensembl	human	known	74_37	missense	15	151	25	17.39	5	32	SNP	1	T	T	6262264	G	T	6262264	3	4	97	1	0	0	0	0	1	0	0	0	9625	1232	43	5	1468	5	MLLT1	19	6262264	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	595194	6262264	52866719	616	1815											
GTF2F1	2962	genome.wustl.edu	37	chr19	6387532	6387532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaagatgtagtaggacGtgttctctgttacgcctccc	7	12	13	9	2	1	2	0	1	1	1	3	3	2	3	2	2	1	4	2	2	4	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:6387532G>A	ENST00000394456.5	-	5	829	c.365C>T	c.(364-366)aCg>aTg	p.T122M	GTF2F1_ENST00000429701.2_Intron|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	122					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|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 viral transcription (GO:0050434)|response to virus (GO:0009615)|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)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GTAGTAGGACGTGTTCTCTGT	0.642																																							0											0													182	150	161					19																	6387532		2203	4300	6503	SO:0001583	missense	0				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"General transcription factors"	4652	protein-coding gene	gene with protein product		189968	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.365C>T	19.37:g.6387532G>A	ENSP00000377969:p.Thr122Met		B2RCS0|Q9BWN0	Missense_Mutation	SNP	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	p.T122M	ENST00000394456.5	37	c.365	CCDS12165.1	19	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730402	0.89390	.	.	ENSG00000125651	ENST00000394456;ENST00000542045;ENST00000541263	T	0.46819	0.86	5.39	5.39	0.77823	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.061993	0.64402	D	0.000003	T	0.60945	0.2308	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.62812	-0.6775	10	0.62326	D	0.03	-39.3572	17.9226	0.88972	0.0:0.0:1.0:0.0	.	122	P35269	T2FA_HUMAN	M	122;182;122	ENSP00000377969:T122M	ENSP00000377969:T122M	T	-	2	0	GTF2F1	6338532	1.000000	0.71417	0.913000	0.36048	0.980000	0.70556	9.352000	0.97076	2.502000	0.84385	0.655000	0.94253	ACG	0	pfam_TFIIF-alpha,superfamily_TFIIF_interaction		0.642	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F1	protein_coding	OTTHUMT00000398033.1	41	165	0	0.00	0	0	G	NM_002096	0	0		6387532	-1	no_errors	ENST00000394456	ensembl	human	known	74_37	missense	13	99	23.53	32.65	4	48	SNP	1	A	A	6387532	G	A	6387532	3	1	97	1	0	0	0	0	1	0	0	0	6858	1145	40	1	1224	1	GTF2F1	19	6387532	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	125268	6387532	52741451	617	1816											
ZNF358	140467	genome.wustl.edu	37	chr19	7585762	7585762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccactcgtggcactgtcaGcccagccctccctaccggcg	5	7	9	20	3	1	0	1	0	0	0	4	0	3	0	5	2	3	1	5	2	1	1	rs116797831	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:7585762G>A	ENST00000597229.1	+	2	1804	c.1634G>A	c.(1633-1635)aGc>aAc	p.S545N	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.S545N|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	545					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						GGCACTGTCAGCCCAGCCCTC	0.662																																							0											0													88	70	76					19																	7585762		2203	4300	6503	SO:0001583	missense	0			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.1634G>A	19.37:g.7585762G>A	ENSP00000472305:p.Ser545Asn		Q9BTM7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S545N	ENST00000597229.1	37	c.1634	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849262	0.51270	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07114	3.22	4.04	4.04	0.47022	.	.	.	.	.	T	0.07683	0.0193	N	0.24115	0.695	0.25094	N	0.990836	B	0.23650	0.089	B	0.18871	0.023	T	0.19484	-1.0304	9	0.66056	D	0.02	.	14.4919	0.67657	0.0:0.0:1.0:0.0	.	545	Q9NW07	ZN358_HUMAN	N	545	ENSP00000377873:S545N	ENSP00000354703:S545N	S	+	2	0	ZNF358	7491762	0.463000	0.25799	0.996000	0.52242	0.375000	0.29983	2.534000	0.45676	2.547000	0.85894	0.655000	0.94253	AGC	0	NULL		0.662	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	protein_coding	OTTHUMT00000316747.1	32	82	0	0.00	0	0	G		0	0		7585762	1	no_errors	ENST00000394341	ensembl	human	known	74_37	missense	14	81	46.15	33.06	12	40	SNP	0.755	A	A	7585762	G	A	7585762	3	1	97	1	0	0	0	0	1	0	0	0	17864	971	34	3	1636	3	ZNF358	19	7585762	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1198230	7585762	51543221	618	1817											
PCP2	126006	genome.wustl.edu	37	chr19	7697344	7697344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttggtcatccatgcggcGgccctgggtactggccagca	6	8	14	13	3	1	0	1	0	0	0	2	0	2	0	3	5	3	3	3	5	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:7697344G>A	ENST00000311069.5	-	3	516	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	PCP2_ENST00000598935.1_Missense_Mutation_p.R60C|XAB2_ENST00000534844.1_5'Flank|CTD-3214H19.4_ENST00000595866.1_Intron|XAB2_ENST00000358368.4_5'Flank|CTD-3214H19.6_ENST00000601797.1_RNA	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	76	GoLoco 2. {ECO:0000255|PROSITE- ProRule:PRU00097}.				rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						TCCATGCGGCGGCCCTGGGTA	0.632																																							0											0													82	81	81					19																	7697344		2203	4300	6503	SO:0001583	missense	0			BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.226C>T	19.37:g.7697344G>A	ENSP00000310585:p.Arg76Cys		M0R2R7|Q3KRG7	Missense_Mutation	SNP	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif	p.R76C	ENST00000311069.5	37	c.226	CCDS32893.1	19	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199779	0.79015	.	.	ENSG00000174788	ENST00000311069	.	.	.	4.9	3.79	0.43588	GoLoco motif (3);	0.094449	0.40385	N	0.001116	T	0.68155	0.2970	M	0.78049	2.395	0.42012	D	0.990942	D	0.69078	0.997	P	0.55055	0.767	T	0.74067	-0.3784	9	0.87932	D	0	-17.409	11.1955	0.48711	0.0:0.0:0.8163:0.1837	.	76	Q8IVA1	PCP2_HUMAN	C	76	.	ENSP00000310585:R76C	R	-	1	0	PCP2	7603344	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.455000	0.44988	2.237000	0.73441	0.549000	0.68633	CGC	0	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif		0.632	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCP2	protein_coding	OTTHUMT00000461026.2	30	75	0	0.00	0	0	G	XM_058956	0	0		7697344	-1	no_errors	ENST00000311069	ensembl	human	known	74_37	missense	5	58	75	15.94	15	11	SNP	1	A	A	7697344	G	A	7697344	3	1	97	1	0	0	0	0	1	0	0	0	11597	1116	39	2	192	2	PCP2	19	7697344	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	111582	7697344	51431639	619	1818											
RGL3	57139	genome.wustl.edu	37	chr19	11508234	11508234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggctgcccagaggcaaagCgaagggccgggggctgggca	9	2	20	10	2	0	1	0	0	0	1	0	2	0	1	2	6	2	4	2	6	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:11508234C>T	ENST00000380456.3	-	17	1849	c.1786G>A	c.(1786-1788)Gct>Act	p.A596T	RGL3_ENST00000393423.3_Missense_Mutation_p.A602T|RGL3_ENST00000568628.1_5'Flank	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	596	Pro-rich.				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						AGAGGCAAAGCGAAGGGCCGG	0.657																																					GBM(174;751 2067 17998 27979 33959)		0											0													11	15	14					19																	11508234		2181	4264	6445	SO:0001583	missense	0			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.1786G>A	19.37:g.11508234C>T	ENSP00000369823:p.Ala596Thr		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	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.A602T	ENST00000380456.3	37	c.1804	CCDS32910.1	19	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140342	0.21205	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.40756	1.17;1.02	4.29	-0.425	0.12317	.	1.577220	0.03555	N	0.226200	T	0.30727	0.0774	L	0.31294	0.92	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.15350	-1.0440	10	0.21014	T	0.42	.	7.9522	0.30021	0.0:0.6203:0.0:0.3797	.	596;602;602;393	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	T	393;602;596	ENSP00000377075:A602T;ENSP00000369823:A596T	ENSP00000344665:A393T	A	-	1	0	RGL3	11369234	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.012000	0.12699	-0.040000	0.13580	-0.320000	0.08662	GCT	0	NULL		0.657	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL3	protein_coding	OTTHUMT00000421208.3	33	13	0	0.00	0	0	C	XM_290867	0	0		11508234	-1	no_errors	ENST00000393423	ensembl	human	known	74_37	missense	42	18	14.29	10.00	7	2	SNP	0	T	T	11508234	C	T	11508234	3	4	97	1	0	0	0	0	1	0	0	0	13278	768	27	1	358	1	RGL3	19	11508234	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3810890	11508234	47620749	620	1819											
ZNF441	126068	genome.wustl.edu	37	chr19	11878013	11878013	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccggaagccgggaaatggTgagtgtgtgaggtctggtgt	7	9	19	6	3	1	2	0	2	1	0	1	4	1	4	2	5	1	0	2	5	2	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:11878013T>C	ENST00000357901.4	+	1	105		c.e1+2		ZNF441_ENST00000454339.2_Splice_Site	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 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)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGGGAAATGGTGAGTGTGTGA	0.662																																							0											0													121	164	151					19																	11878013		692	1591	2283	SO:0001630	splice_region_variant	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.3+2T>C	19.37:g.11878013T>C				Splice_Site	SNP	0	e1+2	ENST00000357901.4	37	c.3+2	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	N	3.908	-0.020729	0.07634	.	.	ENSG00000197044	ENST00000357901	.	.	.	0.655	-0.888	0.10583	.	.	.	.	.	.	.	.	.	.	.	0.26676	N	0.971629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6119	0.12406	0.0:0.0:0.3258:0.6741	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF441	11739013	0.977000	0.34250	0.003000	0.11579	0.071000	0.16799	0.373000	0.20484	-0.402000	0.07633	-0.663000	0.03849	.	0	0		0.662	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	protein_coding	OTTHUMT00000335273.3	143	109	0	0.91	0	1	T	NM_152355	0	0	Intron	11878013	1	no_errors	ENST00000357901	ensembl	human	known	74_37	splice_site	122	112	10.29	8.87	14	11	SNP	0.152	C	C	11878013	T	C	11878013	5	2	97	1	0	0	0	0	0	0	1	0	17911	1710	59	3	7	3	ZNF441	19	11878013	Splice_Site	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	369779	11878013	47250970	621	1820											
BRD4	23476	genome.wustl.edu	37	chr19	15350575	15350575	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgggtgagtggatctTctcctccttcaccaccacga	8	11	10	12	1	3	2	1	2	2	0	5	5	4	3	4	2	0	0	4	2	0	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:15350575T>C	ENST00000263377.2	-	16	3561	c.3340A>G	c.(3340-3342)Aag>Gag	p.K1114E		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1114	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GAGTGGATCTTCTCCTCCTTC	0.701			T	C15orf55	lethal midline carcinoma of young people																																		0		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													42	46	45					19																	15350575		2203	4300	6503	SO:0001583	missense	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3340A>G	19.37:g.15350575T>C	ENSP00000263377:p.Lys1114Glu		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K1114E	ENST00000263377.2	37	c.3340	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192262	0.38707	.	.	ENSG00000141867	ENST00000263377	T	0.44083	0.93	4.23	4.23	0.50019	.	0.000000	0.48286	D	0.000189	T	0.35998	0.0951	L	0.46157	1.445	0.80722	D	1	P	0.41978	0.767	B	0.37780	0.258	T	0.33828	-0.9853	10	0.66056	D	0.02	-18.0239	12.3222	0.54991	0.0:0.0:0.0:1.0	.	1114	O60885	BRD4_HUMAN	E	1114	ENSP00000263377:K1114E	ENSP00000263377:K1114E	K	-	1	0	BRD4	15211575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.499000	0.60380	1.531000	0.49152	0.459000	0.35465	AAG	0	NULL		0.701	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	protein_coding	OTTHUMT00000465800.3	25	55	0	0.00	0	0	T	NM_058243	0	0		15350575	-1	no_errors	ENST00000263377	ensembl	human	known	74_37	missense	14	22	33.33	37.14	7	13	SNP	1	C	C	15350575	T	C	15350575	3	2	97	1	0	0	0	0	1	0	0	0	1504	1792	62	3	768	3	BRD4	19	15350575	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	3472562	15350575	43778408	622	1821											
OR10H5	284433	genome.wustl.edu	37	chr19	15905529	15905529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctatgccttcatcgtggCcgccatcttgaagatccctt	6	13	7	15	2	2	2	1	1	1	1	5	2	4	2	5	1	1	0	5	1	2	4	rs62621417	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:15905529C>T	ENST00000308940.8	+	1	769	c.671C>T	c.(670-672)gCc>gTc	p.A224V		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	224						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)|liver(1)|lung(9)|ovary(1)	20						TTCATCGTGGCCGCCATCTTG	0.577																																							0											0													77	65	69					19																	15905529		2202	4278	6480	SO:0001583	missense	0			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.671C>T	19.37:g.15905529C>T	ENSP00000310704:p.Ala224Val		Q6IFJ0|Q96R60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A224V	ENST00000308940.8	37	c.671	CCDS32940.1	19	.	.	.	.	.	.	.	.	.	.	.	5.098	0.203744	0.09704	.	.	ENSG00000172519	ENST00000308940	T	0.36157	1.27	3.88	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000141	T	0.22244	0.0536	N	0.10837	0.055	0.09310	N	1	B	0.24675	0.109	B	0.37451	0.25	T	0.25950	-1.0117	10	0.48119	T	0.1	.	6.8306	0.23907	0.0:0.7159:0.179:0.1051	.	224	Q8NGA6	O10H5_HUMAN	V	224	ENSP00000310704:A224V	ENSP00000310704:A224V	A	+	2	0	OR10H5	15766529	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.162000	0.16501	0.214000	0.20742	-0.237000	0.12165	GCC	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.577	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	protein_coding	OTTHUMT00000460363.1	43	152	0	0.00	0	0	C		0	0		15905529	1	no_errors	ENST00000308940	ensembl	human	known	74_37	missense	31	124	27.91	25.30	12	42	SNP	0.008	T	T	15905529	C	T	15905529	3	4	97	1	0	0	0	0	1	0	0	0	10909	739	26	3	673	3	OR10H5	19	15905529	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	554954	15905529	43223454	623	1822											
UNC13A	23025	genome.wustl.edu	37	chr19	17759402	17759402	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcgaagttgtgtggcgTcgtgcacgagatggggtaga	8	10	16	7	4	0	2	0	0	0	2	2	4	0	2	0	3	1	3	0	3	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:17759402T>A	ENST00000519716.2	-	16	1653	c.1654A>T	c.(1654-1656)Acg>Tcg	p.T552S	UNC13A_ENST00000252773.7_Missense_Mutation_p.T552S|UNC13A_ENST00000552293.1_Missense_Mutation_p.T552S|UNC13A_ENST00000428389.2_Missense_Mutation_p.T640S|UNC13A_ENST00000550896.1_Missense_Mutation_p.T550S|UNC13A_ENST00000551649.1_Missense_Mutation_p.T552S	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	552					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						TTGTGTGGCGTCGTGCACGAG	0.617																																							0											0													163	181	175					19																	17759402		2188	4295	6483	SO:0001583	missense	0			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.1654A>T	19.37:g.17759402T>A	ENSP00000429562:p.Thr552Ser		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.T640S	ENST00000519716.2	37	c.1918	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	t	23.9	4.476374	0.84640	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	4.35	4.35	0.52113	.	0.000000	0.85682	U	0.000000	D	0.89298	0.6675	M	0.83384	2.64	0.45139	D	0.998159	D	0.55605	0.972	P	0.53006	0.715	D	0.90267	0.4305	10	0.59425	D	0.04	-17.8403	11.7448	0.51813	0.0:0.0:0.0:1.0	.	552	Q9UPW8	UN13A_HUMAN	S	552;640;552;552;552;550	ENSP00000429562:T552S;ENSP00000400409:T640S;ENSP00000252773:T552S;ENSP00000447236:T552S;ENSP00000447572:T552S;ENSP00000446831:T550S	ENSP00000252773:T552S	T	-	1	0	UNC13A	17620402	1.000000	0.71417	0.980000	0.43619	0.841000	0.47740	7.811000	0.86092	1.725000	0.51514	0.398000	0.26397	ACG	0	NULL		0.617	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	protein_coding	OTTHUMT00000376169.2	22	150	0	0.00	0	0	T	XM_038604	0	0		17759402	-1	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	10	114	37.5	31.33	6	52	SNP	0.999	A	A	17759402	T	A	17759402	3	1	97	1	0	0	0	0	1	0	0	0	16981	1667	58	5	3569	5	UNC13A	19	17759402	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	1853873	17759402	41369581	624	1823											
IL12RB1	3594	genome.wustl.edu	37	chr19	18180422	18180422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaaggcccccgtcctggcCcacaggctgccattcaatgc	7	6	11	17	1	1	0	1	0	0	0	2	0	2	0	5	4	2	2	5	4	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:18180422C>T	ENST00000600835.2	-	11	1421	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	IL12RB1_ENST00000593993.2_Missense_Mutation_p.G375S			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	375	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						CCGTCCTGGCCCACAGGCTGC	0.627																																							0											0													61	68	65					19																	18180422		2031	4182	6213	SO:0001583	missense	0			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.1123G>A	19.37:g.18180422C>T	ENSP00000470788:p.Gly375Ser		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G375S	ENST00000600835.2	37	c.1123	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597509	0.46318	.	.	ENSG00000096996	ENST00000430026	T	0.81078	-1.45	4.2	-1.13	0.09775	.	1.490260	0.04083	N	0.309924	T	0.82217	0.4989	L	0.60455	1.87	0.09310	N	1	D;D	0.69078	0.997;0.995	P;P	0.61132	0.884;0.769	T	0.66685	-0.5861	10	0.21014	T	0.42	-4.883	1.9557	0.03375	0.3564:0.3631:0.1744:0.1061	.	375;375	P42701-2;P42701	.;I12R1_HUMAN	S	375	ENSP00000403103:G375S	ENSP00000403103:G375S	G	-	1	0	IL12RB1	18041422	0.001000	0.12720	0.013000	0.15412	0.081000	0.17604	-0.003000	0.12901	0.130000	0.18549	0.430000	0.28490	GGC	0	NULL		0.627	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	protein_coding	OTTHUMT00000466525.3	30	78	0	0.00	0	0	C		0	0		18180422	-1	no_errors	ENST00000593993	ensembl	human	known	74_37	missense	28	42	30	48.15	12	39	SNP	0.014	T	T	18180422	C	T	18180422	3	4	97	1	0	0	0	0	1	0	0	0	7626	623	22	3	897	3	IL12RB1	19	18180422	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	421020	18180422	40948561	625	1824											
IL12RB1	3594	genome.wustl.edu	37	chr19	18186568	18186568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgatcttaccagggggaaCgcacacggggctgctccact	9	7	13	12	2	1	1	0	1	1	0	2	2	2	2	2	4	3	3	2	4	2	1	rs140762977		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:18186568C>T	ENST00000600835.2	-	8	989	c.691G>A	c.(691-693)Gtt>Att	p.V231I	IL12RB1_ENST00000322153.7_Missense_Mutation_p.V231I|IL12RB1_ENST00000593993.2_Missense_Mutation_p.V231I			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	231	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						CCAGGGGGAACGCACACGGGG	0.587																																							0											0								C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	64	62	63		691,691	-0.7	0.1	19	dbSNP_134	63	0,8600		0,0,4300	no	missense,missense	IL12RB1	NM_005535.1,NM_153701.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	231/663,231/382	18186568	1,13005	2203	4300	6503	SO:0001583	missense	0			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.691G>A	19.37:g.18186568C>T	ENSP00000470788:p.Val231Ile		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V231I	ENST00000600835.2	37	c.691	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.864220	0.00552	2.27E-4	0.0	ENSG00000096996	ENST00000430026;ENST00000322153	T;D	0.86164	0.38;-2.08	4.49	-0.739	0.11120	Immunoglobulin-like fold (1);	1.083410	0.07296	N	0.873330	T	0.70316	0.3210	N	0.16656	0.425	0.09310	N	0.999997	P;B;P	0.45283	0.855;0.195;0.774	B;B;B	0.32342	0.144;0.019;0.068	T	0.61153	-0.7120	10	0.27785	T	0.31	-8.9529	6.5971	0.22681	0.0:0.3281:0.0:0.6719	.	231;231;231	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	I	231	ENSP00000403103:V231I;ENSP00000314425:V231I	ENSP00000314425:V231I	V	-	1	0	IL12RB1	18047568	0.002000	0.14202	0.051000	0.19133	0.013000	0.08279	-0.345000	0.07770	0.016000	0.14998	-0.300000	0.09419	GTT	0	superfamily_Fibronectin_type3		0.587	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	protein_coding	OTTHUMT00000466525.3	27	108	0	0.00	0	0	C		rs140762977	C->T		18186568	-1	no_errors	ENST00000593993	ensembl	human	known	74_37	missense	9	103	40	26.95	6	38	SNP	0.072	T	T	18186568	C	T	18186568	3	4	97	1	0	0	0	0	1	0	0	0	7626	536	19	1	1470	1	IL12RB1	19	18186568	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	6146	18186568	40942415	626	1825											
CILP2	148113	genome.wustl.edu	37	chr19	19654911	19654911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgccgccctccacccagcgGctggtggtgacttttgtgga	4	10	14	13	2	0	1	0	1	0	0	1	2	1	2	4	4	2	1	4	4	0	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:19654911G>A	ENST00000291495.5	+	8	1642	c.1557G>A	c.(1555-1557)cgG>cgA	p.R519R	CILP2_ENST00000586018.1_Silent_p.R525R	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	519						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						CCACCCAGCGGCTGGTGGTGA	0.632																																							0											0													23	27	25					19																	19654911		2203	4299	6502	SO:0001819	synonymous_variant	0			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1557G>A	19.37:g.19654911G>A			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.R519	ENST00000291495.5	37	c.1557	CCDS12405.1	19																																																																																			0	superfamily_Carb-bd-like_fold		0.632	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	protein_coding	OTTHUMT00000459738.3	60	128	0	0.00	0	0	G	NM_153221	0	0		19654911	1	no_errors	ENST00000291495	ensembl	human	known	74_37	silent	29	94	30.95	36.67	13	55	SNP	0.998	A	A	19654911	G	A	19654911	2	1	97	1	0	0	0	0	0	0	0	1	3430	1190	42	3		3	CILP2	19	19654911	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1468343	19654911	39474072	627	1826											
ZNF536	9745	genome.wustl.edu	37	chr19	31039047	31039047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccagacatcctgagggggGccttcaagggtctccctgga	7	7	15	12	0	2	2	1	1	1	1	4	3	3	3	4	6	0	0	4	6	1	1	rs200595340		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:31039047G>A	ENST00000355537.3	+	4	2668	c.2521G>A	c.(2521-2523)Gcc>Acc	p.A841T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	841					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)					CCTGAGGGGGGCCTTCAAGGG	0.592																																							0											0													64	73	70					19																	31039047		2203	4300	6503	SO:0001583	missense	0				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.2521G>A	19.37:g.31039047G>A	ENSP00000347730:p.Ala841Thr		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A841T	ENST00000355537.3	37	c.2521	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169166	0.38315	.	.	ENSG00000198597	ENST00000355537	T	0.09073	3.02	5.98	4.94	0.65067	.	0.051499	0.85682	D	0.000000	T	0.07458	0.0188	L	0.29908	0.895	0.45015	D	0.998035	B;B	0.21071	0.051;0.051	B;B	0.14023	0.01;0.01	T	0.27331	-1.0077	10	0.19590	T	0.45	-20.6828	15.0566	0.71917	0.0678:0.0:0.9322:0.0	.	841;841	A7E228;O15090	.;ZN536_HUMAN	T	841	ENSP00000347730:A841T	ENSP00000347730:A841T	A	+	1	0	ZNF536	35730887	1.000000	0.71417	0.806000	0.32338	0.786000	0.44442	7.642000	0.83385	1.537000	0.49254	0.591000	0.81541	GCC	0	NULL		0.592	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	33	104	0	0.00	0	0	G	NM_014717	rs200595340	G->A		31039047	1	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	20	58	31.03	32.56	9	28	SNP	0.999	A	A	31039047	G	A	31039047	3	1	97	1	0	0	0	0	1	0	0	0	17971	1203	42	3	2531	3	ZNF536	19	31039047	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	11384136	31039047	28089936	628	1827											
GPI	2821	genome.wustl.edu	37	chr19	34857309	34857309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactccaagaacctggtgaCggaggacgtgatgcggatgc	10	8	14	9	3	0	3	0	2	0	1	1	6	1	6	2	4	4	0	2	4	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:34857309C>T	ENST00000356487.5	+	2	423	c.182C>T	c.(181-183)aCg>aTg	p.T61M	GPI_ENST00000415930.3_Missense_Mutation_p.T100M|GPI_ENST00000586425.1_Missense_Mutation_p.T61M	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	61					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AACCTGGTGACGGAGGACGTG	0.557																																							0											0													277	210	232					19																	34857309		2203	4300	6503	SO:0001583	missense	0			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.182C>T	19.37:g.34857309C>T	ENSP00000348877:p.Thr61Met		B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.T100M	ENST00000356487.5	37	c.299	CCDS12437.1	19	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074827	0.55646	.	.	ENSG00000105220	ENST00000415930;ENST00000356487;ENST00000392234	D;D	0.94537	-3.45;-3.45	5.52	4.47	0.54385	.	0.142343	0.64402	D	0.000005	D	0.96175	0.8753	M	0.84683	2.71	0.38036	D	0.935321	P;P;P;D;P	0.53885	0.508;0.547;0.508;0.963;0.831	B;B;B;P;B	0.53689	0.137;0.117;0.094;0.732;0.333	D	0.97223	0.9879	10	0.87932	D	0	-6.0236	12.8173	0.57673	0.3069:0.6931:0.0:0.0	.	61;100;61;382;61	B4DE36;B4DG39;B4DVJ0;Q59F85;P06744	.;.;.;.;G6PI_HUMAN	M	100;61;382	ENSP00000405573:T100M;ENSP00000348877:T61M	ENSP00000348877:T61M	T	+	2	0	GPI	39549149	0.811000	0.29063	0.716000	0.30569	0.856000	0.48823	1.532000	0.36029	1.281000	0.44480	0.561000	0.74099	ACG	0	pfam_G6P_Isomerase		0.557	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	protein_coding	OTTHUMT00000451693.3	50	169	0	0.00	0	0	C		0	0		34857309	1	no_errors	ENST00000415930	ensembl	human	known	74_37	missense	31	130	29.55	30.00	13	57	SNP	0.957	T	T	34857309	C	T	34857309	3	4	97	1	0	0	0	0	1	0	0	0	6611	536	19	1	309	1	GPI	19	34857309	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3818262	34857309	24271674	629	1828											
LGI4	163175	genome.wustl.edu	37	chr19	35622422	35622422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcaggagccagaggaCgcggcagtcacactggaacg	11	3	14	13	3	1	1	1	0	0	1	1	4	1	4	2	4	3	2	2	4	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:35622422C>T	ENST00000310123.3	-	6	1015	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	LGI4_ENST00000591633.1_Missense_Mutation_p.V166I|LGI4_ENST00000392225.3_Missense_Mutation_p.V166I|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	166	LRRCT.				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)			AGCCAGAGGACGCGGCAGTCA	0.716																																							0											0													13	12	12					19																	35622422		2021	3943	5964	SO:0001583	missense	0			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.496G>A	19.37:g.35622422C>T	ENSP00000312273:p.Val166Ile		B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.V166I	ENST00000310123.3	37	c.496	CCDS12444.1	19	.	.	.	.	.	.	.	.	.	.	C	9.825	1.186811	0.21870	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	D;D	0.89617	-2.54;-2.54	3.71	-7.42	0.01388	Cysteine-rich flanking region, C-terminal (1);	1.630360	0.03921	N	0.283572	T	0.73505	0.3595	N	0.10629	0.01	0.19775	N	0.999959	B;B	0.18968	0.032;0.001	B;B	0.11329	0.006;0.001	T	0.63497	-0.6624	10	0.23302	T	0.38	.	7.8013	0.29176	0.0:0.22:0.1864:0.5936	.	166;166	Q8N135-2;Q8N135	.;LGI4_HUMAN	I	166	ENSP00000312273:V166I;ENSP00000376059:V166I	ENSP00000312273:V166I	V	-	1	0	LGI4	40314262	0.000000	0.05858	0.101000	0.21167	0.706000	0.40770	-2.131000	0.01311	-1.596000	0.01611	-1.873000	0.00551	GTC	0	smart_Cys-rich_flank_reg_C		0.716	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI4	protein_coding	OTTHUMT00000103963.1	32	53	0	0.00	0	0	C		0	0		35622422	-1	no_errors	ENST00000310123	ensembl	human	known	74_37	missense	19	28	23.08	37.78	6	17	SNP	0.136	T	T	35622422	C	T	35622422	3	4	97	1	0	0	0	0	1	0	0	0	8754	536	19	1	1133	1	LGI4	19	35622422	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	765113	35622422	23506561	630	1829											
ZNF585B	92285	genome.wustl.edu	37	chr19	37676361	37676361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagacttcccacagtcaCtgcactcataaggtttctct	11	12	6	12	0	3	2	2	1	1	1	5	2	4	2	1	1	1	2	1	1	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:37676361C>T	ENST00000532828.2	-	5	2329	c.2078G>A	c.(2077-2079)aGt>aAt	p.S693N	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.S281N|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S638N|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	693					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCACAGTCACTGCACTCATA	0.453																																					Melanoma(93;882 1454 18863 28917 48427)		0											0													48	46	47					19																	37676361		2202	4280	6482	SO:0001583	missense	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2078G>A	19.37:g.37676361C>T	ENSP00000433773:p.Ser693Asn		Q8IZD3|Q96JW6	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.S693N	ENST00000532828.2	37	c.2078	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.263519	0.00262	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.19250	2.16;2.16;2.16	2.65	-1.21	0.09524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.577612	0.14446	N	0.319074	T	0.06096	0.0158	N	0.05078	-0.115	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.38090	-0.9677	10	0.02654	T	1	.	3.7439	0.08540	0.0:0.2489:0.3979:0.3532	.	638;693	E9PQH3;Q52M93	.;Z585B_HUMAN	N	638;693;281	ENSP00000436774:S638N;ENSP00000433773:S693N;ENSP00000442139:S281N	ENSP00000442139:S281N	S	-	2	0	ZNF585B	42368201	0.000000	0.05858	0.666000	0.29783	0.674000	0.39518	-4.954000	0.00166	-0.026000	0.13895	0.305000	0.20034	AGT	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	protein_coding	OTTHUMT00000388272.2	64	22	0	0.00	0	0	C	NM_152279	0	0		37676361	-1	no_errors	ENST00000532828	ensembl	human	known	74_37	missense	33	20	26.67	39.39	12	13	SNP	0.003	T	T	37676361	C	T	37676361	3	4	97	1	0	0	0	0	1	0	0	0	18015	565	20	3	235	3	ZNF585B	19	37676361	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2053939	37676361	21452622	631	1830											
CATSPERG	57828	genome.wustl.edu	37	chr19	38855535	38855535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccttcaaccccagattaCgctcaaggataaaaagcttt	13	10	5	13	1	2	1	2	0	0	1	3	2	3	2	4	1	3	2	4	1	6	4	rs200588516		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:38855535C>T	ENST00000409235.3	+	21	2595	c.2480C>T	c.(2479-2481)aCg>aTg	p.T827M	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.T787M|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	827					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)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCCCAGATTACGCTCAAGGAT	0.502																																							0											0													100	100	100					19																	38855535		2203	4300	6503	SO:0001583	missense	0			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2480C>T	19.37:g.38855535C>T	ENSP00000386962:p.Thr827Met		A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.T827M	ENST00000409235.3	37	c.2480	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807288	0.50421	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.34472	1.36;1.36	4.5	-0.549	0.11829	.	0.493419	0.18338	N	0.144285	T	0.25269	0.0614	M	0.67953	2.075	0.80722	D	1	P;P	0.47677	0.899;0.777	B;B	0.34242	0.178;0.07	T	0.11348	-1.0591	10	0.72032	D	0.01	-12.5642	3.8129	0.08804	0.3401:0.467:0.0:0.1929	.	827;787	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	M	787;827;827	ENSP00000387057:T787M;ENSP00000386962:T827M	ENSP00000386962:T827M	T	+	2	0	CATSPERG	43547375	0.000000	0.05858	0.070000	0.20053	0.580000	0.36256	-1.320000	0.02700	0.100000	0.17581	0.561000	0.74099	ACG	0	NULL		0.502	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	protein_coding	OTTHUMT00000330204.1	67	254	0	0.00	0	0	C	NM_021185	rs200588516	C->T		38855535	1	no_errors	ENST00000409235	ensembl	human	known	74_37	missense	37	206	19.57	34.29	9	108	SNP	0.004	T	T	38855535	C	T	38855535	3	4	97	1	0	0	0	0	1	0	0	0	2692	536	19	1	2558	1	CATSPERG	19	38855535	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1179174	38855535	20273448	632	1831											
PLEKHG2	64857	genome.wustl.edu	37	chr19	39913718	39913718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgccttccagccatacCtagtgtccccaacaccccca	8	7	5	21	0	0	0	0	0	0	0	2	0	2	0	9	0	4	0	9	0	3	3	rs71356852		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:39913718C>A	ENST00000409794.3	+	18	2874	c.2024C>A	c.(2023-2025)cCt>cAt	p.P675H	PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P616H|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.P646H	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	675					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)			CCAGCCATACCTAGTGTCCCC	0.572																																							0											0													97	108	104					19																	39913718		2203	4300	6503	SO:0001583	missense	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2024C>A	19.37:g.39913718C>A	ENSP00000386733:p.Pro675His		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.P675H	ENST00000409794.3	37	c.2024	CCDS33022.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.13|17.13	3.310976|3.310976	0.60414|0.60414	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|T;T;T	.|0.74209	.|-0.6;-0.58;-0.82	5.22|5.22	4.12|4.12	0.48240|0.48240	.|.	.|0.317514	.|0.23155	.|N	.|0.051312	T|T	0.74612|0.74612	0.3739|0.3739	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.65815	.|0.995;0.992;0.992	.|P;P;P	.|0.58873	.|0.847;0.62;0.707	T|T	0.77656|0.77656	-0.2506|-0.2506	5|10	.|0.87932	.|D	.|0	.|.	13.5402|13.5402	0.61671|0.61671	0.1558:0.8442:0.0:0.0|0.1558:0.8442:0.0:0.0	.|.	.|646;675;616	.|Q9H7P9-3;Q9H7P9;E7ESZ3	.|.;PKHG2_HUMAN;.	I|H	543|675;646;616	.|ENSP00000386733:P675H;ENSP00000392906:P646H;ENSP00000408857:P616H	.|ENSP00000386733:P675H	L|P	+|+	1|2	2|0	PLEKHG2|PLEKHG2	44605558|44605558	0.015000|0.015000	0.18098|0.18098	0.010000|0.010000	0.14722|0.14722	0.796000|0.796000	0.44982|0.44982	3.491000|3.491000	0.53252|0.53252	2.586000|2.586000	0.87340|0.87340	0.655000|0.655000	0.94253|0.94253	CTA|CCT	0	NULL		0.572	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	protein_coding	OTTHUMT00000326802.1	52	218	0	0.00	0	0	C	NM_022835	0	0		39913718	1	no_errors	ENST00000409794	ensembl	human	known	74_37	missense	25	136	35.9	39.56	14	89	SNP	0.05	A	A	39913718	C	A	39913718	3	1	97	1	0	0	0	0	1	0	0	0	12069	681	24	5	2090	5	PLEKHG2	19	39913718	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1058183	39913718	19215265	633	1832											
ZNF546	339327	genome.wustl.edu	37	chr19	40520367	40520367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggaaggcctttagtcatgGctcataccttgttcaacatc	9	13	9	10	0	3	0	3	0	0	0	4	1	3	1	2	3	2	2	2	3	4	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:40520367G>A	ENST00000347077.4	+	7	1406	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	ZNF546_ENST00000600094.1_Missense_Mutation_p.G371D|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	397					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(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTAGTCATGGCTCATACCTT	0.373																																							0											0													47	45	46					19																	40520367		2203	4300	6503	SO:0001583	missense	0			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1190G>A	19.37:g.40520367G>A	ENSP00000339823:p.Gly397Asp		A8K913	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.G397D	ENST00000347077.4	37	c.1190	CCDS12548.1	19	.	.	.	.	.	.	.	.	.	.	g	11.28	1.591197	0.28357	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.35973	1.28	2.76	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16981	0.0408	N	0.20483	0.58	0.09310	N	1	B;B	0.30326	0.131;0.276	B;B	0.24974	0.012;0.057	T	0.21518	-1.0243	9	0.12103	T	0.63	.	3.9633	0.09420	0.4907:0.0:0.5093:0.0	.	371;397	B3KVL3;Q86UE3	.;ZN546_HUMAN	D	397;34	ENSP00000339823:G397D	ENSP00000339823:G397D	G	+	2	0	ZNF546	45212207	0.000000	0.05858	0.016000	0.15963	0.997000	0.91878	-0.370000	0.07523	0.574000	0.29417	0.655000	0.94253	GGC	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	protein_coding	OTTHUMT00000462495.2	59	124	0	0.00	0	0	G	NM_178544	0	0		40520367	1	no_errors	ENST00000347077	ensembl	human	known	74_37	missense	30	110	16.22	20.86	6	29	SNP	0	A	A	40520367	G	A	40520367	3	1	97	1	0	0	0	0	1	0	0	0	17975	1203	42	3	1208	3	ZNF546	19	40520367	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	606649	40520367	18608616	634	1833											
AXL	558	genome.wustl.edu	37	chr19	41759589	41759589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccaagagattcatacaccGggacctggcggccaggaact	12	6	11	12	2	1	1	1	0	0	1	1	4	1	3	4	4	3	0	4	4	4	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:41759589G>T	ENST00000301178.4	+	17	2202	c.2012G>T	c.(2011-2013)cGg>cTg	p.R671L	AXL_ENST00000593513.1_Missense_Mutation_p.R403L|AXL_ENST00000359092.3_Missense_Mutation_p.R662L	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	671	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						TTCATACACCGGGACCTGGCG	0.592																																							0											0													95	79	84					19																	41759589		2203	4300	6503	SO:0001583	missense	0			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.2012G>T	19.37:g.41759589G>T	ENSP00000301178:p.Arg671Leu		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.R671L	ENST00000301178.4	37	c.2012	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936669	0.92458	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.74421	-0.84;-0.84	5.24	4.21	0.49690	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.062472	0.64402	D	0.000011	D	0.85643	0.5744	M	0.92970	3.365	0.50632	D	0.999888	D;D	0.61080	0.989;0.981	P;P	0.55260	0.735;0.772	D	0.88998	0.3419	10	0.87932	D	0	-17.345	12.7102	0.57086	0.0806:0.0:0.9194:0.0	.	662;671	P30530-2;P30530	.;UFO_HUMAN	L	671;662	ENSP00000301178:R671L;ENSP00000351995:R662L	ENSP00000301178:R671L	R	+	2	0	AXL	46451429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.595000	0.98260	1.444000	0.47605	0.591000	0.81541	CGG	0	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		0.592	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	protein_coding	OTTHUMT00000463323.2	55	125	0	0.00	0	0	G		0	0		41759589	1	no_errors	ENST00000301178	ensembl	human	known	74_37	missense	37	111	27.45	26.58	14	42	SNP	1	T	T	41759589	G	T	41759589	3	4	97	1	0	0	0	0	1	0	0	0	1238	1116	39	5	2078	5	AXL	19	41759589	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1239222	41759589	17369394	635	1834											
CADM4	199731	genome.wustl.edu	37	chr19	44130991	44130991	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagccggacgggaccgCggaacgaggcagctgagctc	8	3	18	12	5	0	1	0	1	0	0	1	5	0	4	2	5	4	4	2	5	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:44130991C>T	ENST00000222374.2	-	4	492	c.444G>A	c.(442-444)ccG>ccA	p.P148P	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	148	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)				GACGGGACCGCGGAACGAGGC	0.687																																							0											0													45	51	49					19																	44130991		2201	4296	6497	SO:0001819	synonymous_variant	0			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.444G>A	19.37:g.44130991C>T			B2R7L5|Q9Y4A4	Silent	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.P148	ENST00000222374.2	37	c.444	CCDS12627.1	19																																																																																			0	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.687	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM4	protein_coding	OTTHUMT00000463352.1	59	56	0	0.00	0	0	C	NM_145296	0	0		44130991	-1	no_errors	ENST00000222374	ensembl	human	known	74_37	silent	57	40	29.63	25.45	24	14	SNP	0.609	T	T	44130991	C	T	44130991	2	4	97	1	0	0	0	0	0	0	0	1	2569	755	27	1		1	CADM4	19	44130991	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2371402	44130991	14997992	636	1835											
PLAUR	5329	genome.wustl.edu	37	chr19	44160700	44160700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggctgcggcactgcaGgctctggtgccggcccctct	3	9	14	15	2	3	0	1	0	2	0	3	0	3	0	3	5	3	4	3	5	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:44160700G>T	ENST00000340093.3	-	4	632	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	PLAUR_ENST00000339082.3_Missense_Mutation_p.L135M|PLAUR_ENST00000601723.1_Missense_Mutation_p.L135M|PLAUR_ENST00000221264.4_Missense_Mutation_p.L135M	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	135	UPAR/Ly6 2.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CGGCACTGCAGGCTCTGGTGC	0.597																																							0											0													98	94	95					19																	44160700		2203	4300	6503	SO:0001583	missense	0				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"CD molecules"	9053	protein-coding gene	gene with protein product	"urokinase-type plasminogen activator (uPA) receptor", "urokinase plasminogen activator surface receptor"	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.403C>A	19.37:g.44160700G>T	ENSP00000339328:p.Leu135Met		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.L135M	ENST00000340093.3	37	c.403	CCDS12628.1	19	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329842	0.41297	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.36699	1.24;1.24;1.24	4.77	3.72	0.42706	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.680172	0.12170	N	0.493129	T	0.41050	0.1142	N	0.24115	0.695	0.33634	D	0.606379	D;P;D;D	0.65815	0.989;0.941;0.995;0.985	P;P;P;P	0.61477	0.59;0.747;0.835;0.889	T	0.49606	-0.8922	10	0.46703	T	0.11	-10.5471	10.1657	0.42879	0.0:0.0:0.8009:0.1991	.	135;135;135;135	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	M	135	ENSP00000342049:L135M;ENSP00000339328:L135M;ENSP00000221264:L135M	ENSP00000221264:L135M	L	-	1	2	PLAUR	48852540	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	2.613000	0.46351	1.206000	0.43276	0.462000	0.41574	CTG	0	pfam_LY6_UPAR,smart_LY6_UPA_recep-like		0.597	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAUR	protein_coding	OTTHUMT00000463571.1	28	43	0	0.00	0	0	G	NM_002659	0	0		44160700	-1	no_errors	ENST00000340093	ensembl	human	known	74_37	missense	21	28	22.22	34.88	6	15	SNP	0.999	T	T	44160700	G	T	44160700	3	4	97	1	0	0	0	0	1	0	0	0	12023	991	35	5	716	5	PLAUR	19	44160700	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	29709	44160700	14968283	637	1836											
PVR	5817	genome.wustl.edu	37	chr19	45150743	45150743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggaatgcctcgctgaggAtgttcgggttgcgcgtagag	6	10	17	8	5	0	2	0	1	0	1	2	4	0	4	1	3	3	4	1	3	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:45150743A>G	ENST00000425690.3	+	2	627	c.328A>G	c.(328-330)Atg>Gtg	p.M110V	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Missense_Mutation_p.M110V|PVR_ENST00000344956.4_Missense_Mutation_p.M110V|PVR_ENST00000406449.4_Missense_Mutation_p.M110V	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	110	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)		CTCGCTGAGGATGTTCGGGTT	0.617																																							0											0													60	52	55					19																	45150743		2203	4300	6503	SO:0001583	missense	0			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.328A>G	19.37:g.45150743A>G	ENSP00000402060:p.Met110Val		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.M110V	ENST00000425690.3	37	c.328	CCDS12640.1	19	.	.	.	.	.	.	.	.	.	.	A	5.108	0.205639	0.09704	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	4.63	-9.0	0.00747	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.631950	0.03970	N	0.291442	T	0.70806	0.3266	N	0.00210	-1.845	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.002;0.002;0.003	T	0.67209	-0.5728	10	0.31617	T	0.26	.	7.5666	0.27883	0.2791:0.4683:0.2527:0.0	.	110;110;110;110	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	V	110	ENSP00000340870:M110V;ENSP00000402060:M110V;ENSP00000383907:M110V;ENSP00000385344:M110V	ENSP00000340870:M110V	M	+	1	0	PVR	49842583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.530000	0.00944	-1.146000	0.02854	-0.661000	0.03856	ATG	0	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.617	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	protein_coding	OTTHUMT00000323017.2	27	98	0	0.00	0	0	A	NM_006505	0	0		45150743	1	no_errors	ENST00000425690	ensembl	human	known	74_37	missense	21	79	16	36.29	4	45	SNP	0	G	G	45150743	A	G	45150743	3	3	97	1	0	0	0	0	1	0	0	0	12837	333	12	3	334	3	PVR	19	45150743	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	990043	45150743	13978240	638	1837											
CBLC	23624	genome.wustl.edu	37	chr19	45285627	45285627	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagccctgccccaccccagCcatggccaacactcctcaag	10	4	6	21	0	1	0	1	0	0	0	2	0	2	0	8	1	4	0	8	1	3	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:45285627C>T	ENST00000270279.3	+	4	721	c.658C>T	c.(658-660)Cca>Tca	p.P220S	CBLC_ENST00000341505.4_Splice_Site_p.P220S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	220	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)				CCCACCCCAGCCATGGCCAAC	0.607			M		AML																																		0		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													116	113	114					19																	45285627		2203	4300	6503	SO:0001630	splice_region_variant	0			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.658-1C>T	19.37:g.45285627C>T			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.P220S	ENST00000270279.3	37	c.658	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	22.6	4.306625	0.81247	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.93953	-2.83;-3.32	4.44	4.44	0.53790	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.000000	0.64402	D	0.000014	D	0.96546	0.8873	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96533	0.9394	9	.	.	.	-15.7925	14.9237	0.70859	0.0:1.0:0.0:0.0	.	220;220	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	S	220	ENSP00000270279:P220S;ENSP00000340250:P220S	.	P	+	1	0	CBLC	49977467	1.000000	0.71417	0.984000	0.44739	0.895000	0.52256	7.243000	0.78219	2.473000	0.83533	0.491000	0.48974	CCA	0	pfam_Adaptor_Cbl_EF_hand-like		0.607	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	protein_coding	OTTHUMT00000319732.2	28	113	0	0.00	0	0	C	NM_012116	0	0	Missense_Mutation	45285627	1	no_errors	ENST00000270279	ensembl	human	known	74_37	missense	11	116	35.29	24.18	6	37	SNP	1	T	T	45285627	C	T	45285627	5	4	97	1	0	0	0	0	0	0	1	0	2702	753	26	3	672	3	CBLC	19	45285627	Splice_Site	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	134884	45285627	13843356	639	1838											
CALM3	808	genome.wustl.edu	37	chr19	47112136	47112136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcagcgccgcagagctgCgtcacgtaatgacgaacctg	11	6	11	13	5	2	2	2	1	0	1	2	3	2	2	2	0	4	3	2	0	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:47112136C>T	ENST00000291295.9	+	5	518	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	CALM3_ENST00000594523.1_Missense_Mutation_p.R71C|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000598871.1_Missense_Mutation_p.R71C|CTB-12A17.3_ENST00000597609.1_RNA|CALM3_ENST00000597743.1_Intron|CALM3_ENST00000596362.1_Missense_Mutation_p.R107C|CALM3_ENST00000599839.1_Missense_Mutation_p.R71C|CALM3_ENST00000391918.2_Missense_Mutation_p.R71C	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	107	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|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)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	CGCAGAGCTGCGTCACGTAAT	0.577																																							0											0													76	61	66					19																	47112136		2203	4300	6503	SO:0001583	missense	0				CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"EF-hand domain containing", "Endogenous ligands"	1449	protein-coding gene	gene with protein product	"prepro-calmodulin 3"	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.319C>T	19.37:g.47112136C>T	ENSP00000291295:p.Arg107Cys		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.R107C	ENST00000291295.9	37	c.319	CCDS33061.1	19	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728055	0.48833	.	.	ENSG00000160014	ENST00000291295;ENST00000391918	D	0.87650	-2.28	4.67	4.67	0.58626	.	0.115190	0.39909	N	0.001231	D	0.93012	0.7776	M	0.85197	2.74	0.80722	D	1	.	.	.	.	.	.	D	0.94097	0.7358	8	0.87932	D	0	-11.3822	15.1047	0.72312	0.0:1.0:0.0:0.0	.	.	.	.	C	107	ENSP00000291295:R107C	ENSP00000291295:R107C	R	+	1	0	CALM3	51803976	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.561000	0.82288	2.410000	0.81850	0.655000	0.94253	CGT	0	pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin		0.577	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALM3	protein_coding	OTTHUMT00000257483.2	15	77	0	0.00	0	0	C		0	0		47112136	1	no_errors	ENST00000291295	ensembl	human	known	74_37	missense	15	80	28.57	30.17	6	35	SNP	1	T	T	47112136	C	T	47112136	3	4	97	1	0	0	0	0	1	0	0	0	2586	768	27	1	337	1	CALM3	19	47112136	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1826509	47112136	12016847	640	1839											
SLC8A2	6543	genome.wustl.edu	37	chr19	47969309	47969309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgcgaacggtgcccaCgctggtctcaccgttggcct	6	8	12	15	4	1	1	1	0	1	1	2	2	1	1	4	3	3	2	4	3	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:47969309C>T	ENST00000236877.6	-	2	747	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	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	118					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)		ACGGTGCCCACGCTGGTCTCA	0.587																																							0											0													120	73	89					19																	47969309		2203	4300	6503	SO:0001583	missense	0			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.352G>A	19.37:g.47969309C>T	ENSP00000236877:p.Val118Met		B4DYQ9	Missense_Mutation	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.V118M	ENST00000236877.6	37	c.352	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572769	0.65765	.	.	ENSG00000118160	ENST00000236877	T	0.34472	1.36	4.25	4.25	0.50352	Sodium/calcium exchanger membrane region (1);	0.000000	0.64402	D	0.000001	T	0.57475	0.2056	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.61959	-0.6955	10	0.66056	D	0.02	.	9.9592	0.41686	0.0:0.9013:0.0:0.0987	.	118	Q9UPR5	NAC2_HUMAN	M	118	ENSP00000236877:V118M	ENSP00000236877:V118M	V	-	1	0	SLC8A2	52661121	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.099000	0.15210	2.210000	0.71456	0.462000	0.41574	GTG	0	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex		0.587	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	protein_coding	OTTHUMT00000466997.1	16	103	0	0.00	0	0	C		0	0		47969309	-1	no_errors	ENST00000236877	ensembl	human	known	74_37	missense	8	98	33.33	31.94	4	46	SNP	1	T	T	47969309	C	T	47969309	3	4	97	1	0	0	0	0	1	0	0	0	14707	536	19	1	2449	1	SLC8A2	19	47969309	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	857173	47969309	11159674	641	1840											
KPTN	11133	genome.wustl.edu	37	chr19	47984057	47984057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggaagaggttttccaCgggctgttcctcaaactgat	8	12	11	10	1	2	2	1	1	1	1	4	3	4	3	2	3	1	3	2	3	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:47984057C>T	ENST00000338134.3	-	6	666	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	KPTN_ENST00000536339.1_De_novo_Start_OutOfFrame|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	187					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		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;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGGTTTTCCACGGGCTGTTCC	0.592																																							0											0													123	129	127					19																	47984057		1946	4138	6084	SO:0001583	missense	0			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"kaptin (actin-binding protein)"			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.559G>A	19.37:g.47984057C>T	ENSP00000337850:p.Val187Met		B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	NULL	p.V187M	ENST00000338134.3	37	c.559	CCDS42583.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.195936	0.94960	.	.	ENSG00000118162	ENST00000338134	T	0.43294	0.95	5.44	5.44	0.79542	.	0.065721	0.64402	D	0.000011	T	0.49745	0.1575	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.48063	0.565	T	0.54357	-0.8306	10	0.66056	D	0.02	.	18.0622	0.89380	0.0:1.0:0.0:0.0	.	187	Q9Y664	KPTN_HUMAN	M	187	ENSP00000337850:V187M	ENSP00000337850:V187M	V	-	1	0	KPTN	52675869	1.000000	0.71417	0.947000	0.38551	0.996000	0.88848	4.844000	0.62846	2.556000	0.86216	0.450000	0.29827	GTG	0	NULL		0.592	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPTN	protein_coding	OTTHUMT00000466672.2	36	166	0	0.00	0	0	C		0	0		47984057	-1	no_errors	ENST00000338134	ensembl	human	known	74_37	missense	20	117	28.57	20.95	8	31	SNP	1	T	T	47984057	C	T	47984057	3	4	97	1	0	0	0	0	1	0	0	0	8437	536	19	1	779	1	KPTN	19	47984057	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	14748	47984057	11144926	642	1841											
PLA2G4C	8605	genome.wustl.edu	37	chr19	48565269	48565269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattacctcgaaaggatctcCggcactgaagtcgaaggaga	13	7	12	9	3	1	2	0	1	1	1	4	7	1	3	2	3	1	1	2	3	4	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:48565269C>T	ENST00000599921.1	-	14	1600	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	CTD-2265M8.2_ENST00000601950.1_RNA|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G415R|CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000596510.1_5'UTR|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G415R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G425R			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	415	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AAAGGATCTCCGGCACTGAAG	0.627																																							0											0													90	88	89					19																	48565269		2203	4300	6503	SO:0001583	missense	0			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1243G>A	19.37:g.48565269C>T	ENSP00000469473:p.Gly415Arg		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	p.G425R	ENST00000599921.1	37	c.1273	CCDS12710.1	19	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757233	0.31137	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04758	3.56;3.56	2.79	2.79	0.32731	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.173619	0.36409	N	0.002613	T	0.04543	0.0124	L	0.56280	1.765	0.28932	N	0.89152	P;P	0.39404	0.591;0.672	B;B	0.27887	0.084;0.046	T	0.24657	-1.0154	10	0.45353	T	0.12	-4.3178	9.3872	0.38349	0.0:1.0:0.0:0.0	.	425;415	B4DI40;Q9UP65	.;PA24C_HUMAN	R	415	ENSP00000346228:G415R;ENSP00000400036:G415R	ENSP00000346228:G415R	G	-	1	0	PLA2G4C	53257081	0.277000	0.24220	0.598000	0.28837	0.663000	0.39108	1.912000	0.39946	1.270000	0.44297	0.405000	0.27470	GGA	0	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.627	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4C	protein_coding	OTTHUMT00000465551.1	79	135	0	0.00	0	0	C		0	0		48565269	-1	no_errors	ENST00000599111	ensembl	human	known	74_37	missense	45	88	19.64	31.54	11	41	SNP	0.993	T	T	48565269	C	T	48565269	3	4	97	1	0	0	0	0	1	0	0	0	12003	661	23	2	402	2	PLA2G4C	19	48565269	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	581212	48565269	10563714	643	1842											
CCDC114	93233	genome.wustl.edu	37	chr19	48801293	48801293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggggccatcttcttcGgaaggtcctccaggctctgg	6	10	14	11	1	3	0	0	0	3	0	6	2	5	1	3	6	0	1	3	6	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:48801293G>A	ENST00000315396.7	-	12	2037	c.1355C>T	c.(1354-1356)cCg>cTg	p.P452L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	452					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)		CATCTTCTTCGGAAGGTCCTC	0.677																																							0											0													44	45	44					19																	48801293		2203	4300	6503	SO:0001583	missense	0			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.1355C>T	19.37:g.48801293G>A	ENSP00000318429:p.Pro452Leu		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.P452L	ENST00000315396.7	37	c.1355	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	G	7.928	0.740135	0.15642	.	.	ENSG00000105479	ENST00000315396	T	0.22743	1.94	3.39	-0.14	0.13456	.	.	.	.	.	T	0.08223	0.0205	N	0.17082	0.46	0.09310	N	1	B;B	0.21688	0.059;0.022	B;B	0.15484	0.013;0.008	T	0.37776	-0.9691	9	0.02654	T	1	-1.8489	3.6579	0.08228	0.2527:0.253:0.4943:0.0	.	452;452	Q96M63;Q96M63-5	CC114_HUMAN;.	L	452	ENSP00000318429:P452L	ENSP00000318429:P452L	P	-	2	0	CCDC114	53493105	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	0.160000	0.16462	0.073000	0.16731	0.655000	0.94253	CCG	0	NULL		0.677	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	protein_coding	OTTHUMT00000343207.1	29	62	0	0.00	0	0	G	NM_144577	0	0		48801293	-1	no_errors	ENST00000315396	ensembl	human	known	74_37	missense	28	40	20	23.08	7	12	SNP	0.001	A	A	48801293	G	A	48801293	3	1	97	1	0	0	0	0	1	0	0	0	2751	1116	39	2	669	2	CCDC114	19	48801293	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	236024	48801293	10327690	644	1843											
GRWD1	83743	genome.wustl.edu	37	chr19	48956016	48956016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggcccccgtgacctccGtcgagtggcacccccaggac	6	5	12	18	4	0	1	0	1	0	0	2	3	1	2	6	3	0	1	6	3	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:48956016G>A	ENST00000253237.5	+	7	1308	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	359						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)		CGTGACCTCCGTCGAGTGGCA	0.657																																							0											0													65	62	63					19																	48956016		2203	4300	6503	SO:0001583	missense	0			AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1075G>A	19.37:g.48956016G>A	ENSP00000253237:p.Val359Ile		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.V359I	ENST00000253237.5	37	c.1075	CCDS12720.1	19	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660145	0.88154	.	.	ENSG00000105447	ENST00000253237	T	0.61040	0.14	5.34	5.34	0.76211	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	0.67401	0.2889	L	0.35723	1.085	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.62604	-0.6819	10	0.30078	T	0.28	.	18.1988	0.89831	0.0:0.0:1.0:0.0	.	359	Q9BQ67	GRWD1_HUMAN	I	359	ENSP00000253237:V359I	ENSP00000253237:V359I	V	+	1	0	GRWD1	53647828	1.000000	0.71417	0.644000	0.29465	0.957000	0.61999	4.623000	0.61247	2.686000	0.91538	0.561000	0.74099	GTC	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.657	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRWD1	protein_coding	OTTHUMT00000466122.1	37	67	0	0.00	0	0	G	NM_031485	0	0		48956016	1	no_errors	ENST00000253237	ensembl	human	known	74_37	missense	21	53	36.36	25.35	12	18	SNP	1	A	A	48956016	G	A	48956016	3	1	97	1	0	0	0	0	1	0	0	0	6811	1145	40	1	1101	1	GRWD1	19	48956016	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	154723	48956016	10172967	645	1844											
PLEKHA4	57664	genome.wustl.edu	37	chr19	49368837	49368837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcctctcttcccaaaggCgtggatcttgtttactgccc	6	14	8	13	1	2	0	0	0	2	0	4	1	3	1	3	2	3	1	3	2	2	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:49368837C>T	ENST00000263265.6	-	3	670	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.A39T	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	39						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)		TTCCCAAAGGCGTGGATCTTG	0.587																																							0											0													133	103	113					19																	49368837		2203	4300	6503	SO:0001583	missense	0			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.115G>A	19.37:g.49368837C>T	ENSP00000263265:p.Ala39Thr		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A39T	ENST00000263265.6	37	c.115	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093352	0.36952	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.12465	2.68;2.68	5.04	4.0	0.46444	.	0.069186	0.56097	D	0.000037	T	0.13670	0.0331	L	0.61218	1.895	0.28994	N	0.887846	B;B	0.15141	0.007;0.012	B;B	0.10450	0.002;0.005	T	0.13522	-1.0506	10	0.21540	T	0.41	.	8.3567	0.32335	0.0:0.8175:0.0:0.1825	.	39;39	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	T	39	ENSP00000263265:A39T;ENSP00000347683:A39T	ENSP00000263265:A39T	A	-	1	0	PLEKHA4	54060649	0.980000	0.34600	0.913000	0.36048	0.949000	0.60115	2.235000	0.43044	1.251000	0.43983	0.563000	0.77884	GCC	0	NULL		0.587	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	protein_coding	OTTHUMT00000466216.1	42	186	0	0.00	0	0	C		0	0		49368837	-1	no_errors	ENST00000263265	ensembl	human	known	74_37	missense	21	215	34.38	16.60	11	43	SNP	0.926	T	T	49368837	C	T	49368837	3	4	97	1	0	0	0	0	1	0	0	0	12058	768	27	1	2296	1	PLEKHA4	19	49368837	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	412821	49368837	9760146	646	1845											
PPFIA3	8541	genome.wustl.edu	37	chr19	49633814	49633814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccgtgagctgggcaaGgcagaggaagccaactccaa	12	3	14	12	2	0	2	0	1	0	1	1	3	1	3	3	3	3	4	3	3	4	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:49633814G>T	ENST00000334186.4	+	7	1186	c.837G>T	c.(835-837)aaG>aaT	p.K279N	PPFIA3_ENST00000602351.1_Missense_Mutation_p.K279N	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	279					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)		AGCTGGGCAAGGCAGAGGAAG	0.697																																							0											0													16	18	17					19																	49633814		2175	4273	6448	SO:0001583	missense	0			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.837G>T	19.37:g.49633814G>T	ENSP00000335614:p.Lys279Asn		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.K279N	ENST00000334186.4	37	c.837	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258482	0.59321	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.39997	1.05	4.15	2.02	0.26589	.	0.000000	0.49916	D	0.000139	T	0.60353	0.2262	M	0.85299	2.745	0.40528	D	0.980903	D;D;P	0.69078	0.997;0.985;0.848	D;D;P	0.65987	0.928;0.94;0.536	T	0.64106	-0.6485	10	0.72032	D	0.01	-31.279	7.1783	0.25757	0.296:0.0:0.704:0.0	.	203;279;279	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	N	279;203	ENSP00000335614:K279N	ENSP00000335614:K279N	K	+	3	2	PPFIA3	54325626	0.997000	0.39634	1.000000	0.80357	0.922000	0.55478	0.579000	0.23788	1.109000	0.41680	0.305000	0.20034	AAG	0	NULL		0.697	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	protein_coding	OTTHUMT00000465688.1	14	33	0	0.00	0	0	G	NM_003660	0	0		49633814	1	no_errors	ENST00000334186	ensembl	human	known	74_37	missense	10	37	23.08	15.91	3	7	SNP	1	T	T	49633814	G	T	49633814	3	4	97	1	0	0	0	0	1	0	0	0	12311	991	35	5	859	5	PPFIA3	19	49633814	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	264977	49633814	9495169	647	1846											
TRPM4	54795	genome.wustl.edu	37	chr19	49714514	49714514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccgccaccccctgacctgCctgggtccaaaggtcagtgt	6	7	12	16	1	1	1	1	1	0	0	2	1	2	1	7	3	1	0	7	3	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:49714514C>T	ENST00000252826.5	+	24	3754	c.3628C>T	c.(3628-3630)Cct>Tct	p.P1210S	TRPM4_ENST00000355712.5_Missense_Mutation_p.P856S|TRPM4_ENST00000427978.2_Missense_Mutation_p.P1065S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1210				P -> H (in Ref. 6; BAA90907). {ECO:0000305}.	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)		CCCTGACCTGCCTGGGTCCAA	0.632																																							0											0													16	16	16					19																	49714514		2193	4286	6479	SO:0001583	missense	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3628C>T	19.37:g.49714514C>T	ENSP00000252826:p.Pro1210Ser		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.P1210S	ENST00000252826.5	37	c.3628	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600553	0.46423	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.57273	0.46;0.41;0.6	5.01	0.212	0.15240	.	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.001;0.003	B;B;B;B	0.10450	0.002;0.005;0.003;0.002	T	0.26710	-1.0095	9	0.02654	T	1	-0.4898	4.2209	0.10558	0.3205:0.5006:0.0:0.1789	.	856;1036;1065;1210	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	S	1210;1065;856	ENSP00000252826:P1210S;ENSP00000407492:P1065S;ENSP00000347944:P856S	ENSP00000252826:P1210S	P	+	1	0	TRPM4	54406326	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.421000	0.07053	-0.031000	0.13781	0.655000	0.94253	CCT	0	NULL		0.632	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	protein_coding	OTTHUMT00000465543.2	41	107	0	0.93	0	1	C	NM_017636	0	0		49714514	1	no_errors	ENST00000252826	ensembl	human	known	74_37	missense	36	78	26.53	26.42	13	28	SNP	0	T	T	49714514	C	T	49714514	3	4	97	1	0	0	0	0	1	0	0	0	16585	739	26	3	3722	3	TRPM4	19	49714514	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	80700	49714514	9414469	648	1847											
ALDH16A1	126133	genome.wustl.edu	37	chr19	49971697	49971697	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgggtgtgctggctgtGgtgtgtccggacgagtggcc	2	10	19	10	3	0	0	0	0	0	0	1	2	1	1	3	5	1	3	3	5	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:49971697G>T	ENST00000293350.4	+	15	2161	c.1998G>T	c.(1996-1998)gtG>gtT	p.V666V	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Silent_p.V615V|ALDH16A1_ENST00000540132.1_Silent_p.V503V|ALDH16A1_ENST00000433981.2_Silent_p.V501V	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	666						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)		TGCTGGCTGTGGTGTGTCCGG	0.706																																							0											0													122	131	128					19																	49971697		2203	4299	6502	SO:0001819	synonymous_variant	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1998G>T	19.37:g.49971697G>T			B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.V666	ENST00000293350.4	37	c.1998	CCDS12766.1	19																																																																																			0	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH		0.706	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	protein_coding	OTTHUMT00000465358.1	57	98	0	0.00	0	0	G	NM_153329	0	0		49971697	1	no_errors	ENST00000293350	ensembl	human	known	74_37	silent	30	65	47.37	26.97	27	24	SNP	0.227	T	T	49971697	G	T	49971697	2	4	97	1	0	0	0	0	0	0	0	1	488	1335	47	5		5	ALDH16A1	19	49971697	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	257183	49971697	9157286	649	1848											
MYH14	79784	genome.wustl.edu	37	chr19	50713829	50713829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgggttcgaggcggcggcGctgcgggacgaaggcgagga	7	3	21	10	8	0	0	0	0	0	0	1	5	0	2	0	7	1	2	0	7	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:50713829G>A	ENST00000596571.1	+	1	207	c.207G>A	c.(205-207)gcG>gcA	p.A69A	MYH14_ENST00000440075.2_Silent_p.A69A|MYH14_ENST00000262269.8_Silent_p.A69A|MYH14_ENST00000425460.1_Silent_p.A69A|MYH14_ENST00000598205.1_Silent_p.A69A|MYH14_ENST00000601313.1_Silent_p.A69A|MYH14_ENST00000376970.2_Silent_p.A69A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	69					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)		AGGCGGCGGCGCTGCGGGACG	0.746																																							0											0													7	11	10					19																	50713829		2052	4130	6182	SO:0001819	synonymous_variant	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.207G>A	19.37:g.50713829G>A			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.A69	ENST00000596571.1	37	c.207	CCDS59411.1	19																																																																																			0	pfam_Myosin_N,superfamily_P-loop_NTPase		0.746	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	10	43	0	0.00	0	0	G	NM_024729	0	0		50713829	1	no_errors	ENST00000262269	ensembl	human	known	74_37	silent	8	38	33.33	23.08	4	12	SNP	0.993	A	A	50713829	G	A	50713829	2	1	97	1	0	0	0	0	0	0	0	1	10033	1074	38	1		1	MYH14	19	50713829	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	742132	50713829	8415154	650	1849											
MYH14	79784	genome.wustl.edu	37	chr19	50720873	50720873	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctctcacccactgcagaCgtactccggccttttctgtg	5	11	7	18	2	2	1	1	0	2	1	4	1	3	1	5	1	2	2	5	1	1	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:50720873C>T	ENST00000596571.1	+	2	407	c.407C>T	c.(406-408)aCg>aTg	p.T136M	MYH14_ENST00000440075.2_Splice_Site_p.T136M|MYH14_ENST00000262269.8_Splice_Site_p.T136M|MYH14_ENST00000425460.1_Splice_Site_p.T136M|MYH14_ENST00000598205.1_Splice_Site_p.T136M|MYH14_ENST00000601313.1_Splice_Site_p.T136M|MYH14_ENST00000376970.2_Splice_Site_p.T136M			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	136	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)		CCACTGCAGACGTACTCCGGC	0.597																																							0											0													112	122	119					19																	50720873		2198	4297	6495	SO:0001630	splice_region_variant	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.406-1C>T	19.37:g.50720873C>T			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.T136M	ENST00000596571.1	37	c.407	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397496	0.42512	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.36	3.29	0.37713	Myosin head, motor domain (3);	.	.	.	.	D	0.95249	0.8459	H	0.99929	4.97	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	D	0.95816	0.8845	9	0.87932	D	0	.	12.1176	0.53873	0.0:0.8249:0.1751:0.0	.	136;136;136	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	M	136	ENSP00000406273:T136M;ENSP00000366169:T136M;ENSP00000407879:T136M;ENSP00000262269:T136M	ENSP00000262269:T136M	T	+	2	0	MYH14	55412685	1.000000	0.71417	0.798000	0.32154	0.068000	0.16541	7.606000	0.82863	1.159000	0.42565	0.655000	0.94253	ACG	0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.597	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	39	151	0	0.00	0	0	C	NM_024729	0	0	Missense_Mutation	50720873	1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	28	88	22.22	33.33	8	44	SNP	0.997	T	T	50720873	C	T	50720873	5	4	97	1	0	0	0	0	0	0	1	0	10033	550	19	1	413	1	MYH14	19	50720873	Splice_Site	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7044	50720873	8408110	651	1850											
SIGLEC7	27036	genome.wustl.edu	37	chr19	51650064	51650064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggtcgggggagctggaGccacagccctggtcttcctc	4	7	17	13	2	1	0	0	0	1	0	4	2	2	2	3	6	3	1	3	6	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:51650064G>T	ENST00000317643.6	+	5	1150	c.1081G>T	c.(1081-1083)Gcc>Tcc	p.A361S	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.A268S	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	361					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)		GGGAGCTGGAGCCACAGCCCT	0.577																																							0											0													104	99	100					19																	51650064		2203	4300	6503	SO:0001583	missense	0			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.1081G>T	19.37:g.51650064G>T	ENSP00000323328:p.Ala361Ser		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.A361S	ENST00000317643.6	37	c.1081	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	12.28	1.890807	0.33348	.	.	ENSG00000168995	ENST00000317643;ENST00000305628	T;T	0.04706	3.57;3.57	2.75	1.69	0.24217	.	1.098330	0.07222	U	0.861108	T	0.05640	0.0148	M	0.64567	1.98	0.09310	N	0.999999	P;P	0.50617	0.84;0.937	B;B	0.34590	0.186;0.164	T	0.41502	-0.9505	10	0.72032	D	0.01	.	5.6412	0.17565	0.1612:0.0:0.8388:0.0	.	268;361	Q9Y286-2;Q9Y286	.;SIGL7_HUMAN	S	361;268	ENSP00000323328:A361S;ENSP00000306757:A268S	ENSP00000306757:A268S	A	+	1	0	SIGLEC7	56341876	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	0.126000	0.15769	0.517000	0.28361	0.420000	0.28162	GCC	0	NULL		0.577	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	protein_coding	OTTHUMT00000464226.2	43	71	0	1.39	0	1	G	NM_016543	0	0		51650064	1	no_errors	ENST00000317643	ensembl	human	known	74_37	missense	16	67	46.67	30.93	14	30	SNP	0.001	T	T	51650064	G	T	51650064	3	4	97	1	0	0	0	0	1	0	0	0	14313	971	34	5	1099	5	SIGLEC7	19	51650064	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	929191	51650064	7478919	652	1851											
ZNF808	388558	genome.wustl.edu	37	chr19	53058425	53058425	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaaggcaacccttctatgCcatcgtagacttcatagtgg	11	10	9	11	1	2	2	1	0	1	2	3	2	2	2	2	2	2	2	2	2	5	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:53058425C>T	ENST00000359798.4	+	5	2436	c.2256C>T	c.(2254-2256)tgC>tgT	p.C752C		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	752					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)		CCCTTCTATGCCATCGTAGAC	0.453																																							0											0													178	175	176					19																	53058425		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2256C>T	19.37:g.53058425C>T			Q68CN7	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.C752	ENST00000359798.4	37	c.2256	CCDS46167.1	19																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	protein_coding	OTTHUMT00000350447.3	140	113	0	0.00	0	0	C	NM_001039886	0	0		53058425	1	no_errors	ENST00000359798	ensembl	human	known	74_37	silent	65	65	23.53	27.78	20	25	SNP	0.007	T	T	53058425	C	T	53058425	2	4	97	1	0	0	0	0	0	0	0	1	18170	747	26	3		3	ZNF808	19	53058425	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1408361	53058425	6070558	653	1852											
ZNF347	84671	genome.wustl.edu	37	chr19	53644236	53644236	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtatgaattcgctgAtgccttgaaaggtatgaatt	11	14	9	7	1	1	4	0	4	1	0	3	4	1	4	2	1	1	3	2	1	5	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:53644236A>T	ENST00000334197.7	-	5	1913	c.1845T>A	c.(1843-1845)caT>caA	p.H615Q	ZNF347_ENST00000452676.2_Missense_Mutation_p.H616Q|ZNF347_ENST00000601469.2_Missense_Mutation_p.H616Q|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	615					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)		GAATTCGCTGATGCCTTGAAA	0.398																																					Melanoma(64;205 1597 17324 45721)		0											0													113	108	110					19																	53644236		2203	4300	6503	SO:0001583	missense	0			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.1845T>A	19.37:g.53644236A>T	ENSP00000334146:p.His615Gln		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.H616Q	ENST00000334197.7	37	c.1848	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	A	13.28	2.191148	0.38707	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	D;D	0.86865	-2.18;-2.18	3.01	-4.08	0.03963	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92506	0.7620	M	0.86502	2.82	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.86939	0.2078	9	0.66056	D	0.02	.	10.1255	0.42648	0.4824:0.0:0.5176:0.0	.	616;615	G5E9N4;Q96SE7	.;ZN347_HUMAN	Q	615;616	ENSP00000334146:H615Q;ENSP00000405218:H616Q	ENSP00000334146:H615Q	H	-	3	2	ZNF347	58336048	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.694000	0.05115	-1.323000	0.02275	-0.408000	0.06270	CAT	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	protein_coding	OTTHUMT00000464170.1	94	57	0	0.00	0	0	A	NM_032584	0	0		53644236	-1	no_errors	ENST00000452676	ensembl	human	known	74_37	missense	41	41	33.87	24.07	21	13	SNP	0.007	T	T	53644236	A	T	53644236	3	4	97	1	0	0	0	0	1	0	0	0	17858	330	12	5	678	5	ZNF347	19	53644236	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	585811	53644236	5484747	654	1853											
NLRP12	91662	genome.wustl.edu	37	chr19	54308674	54308674	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagagaggtcctcgcaGgctgagctggagatgcggca	8	6	17	10	2	0	3	0	1	0	2	2	5	1	3	1	4	3	6	1	4	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:54308674G>T	ENST00000324134.6	-	5	2442	c.2274C>A	c.(2272-2274)gcC>gcA	p.A758A	NLRP12_ENST00000391773.1_Silent_p.A759A|NLRP12_ENST00000535162.1_Silent_p.A758A|NLRP12_ENST00000345770.5_Silent_p.A759A|NLRP12_ENST00000391772.1_Silent_p.A759A|NLRP12_ENST00000391775.3_Silent_p.A758A|NLRP12_ENST00000354278.3_Silent_p.A758A|NLRP12_ENST00000351894.4_Silent_p.A758A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	758					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)		GGTCCTCGCAGGCTGAGCTGG	0.502																																							0											0													91	91	91					19																	54308674		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2274C>A	19.37:g.54308674G>T			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.A758	ENST00000324134.6	37	c.2274	CCDS12864.1	19																																																																																			0	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.502	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	protein_coding	OTTHUMT00000134340.1	27	150	0	0.00	0	0	G	NM_144687	0	0		54308674	-1	no_errors	ENST00000324134	ensembl	human	known	74_37	silent	13	126	35	23.64	7	39	SNP	0.979	T	T	54308674	G	T	54308674	2	4	97	1	0	0	0	0	0	0	0	1	10474	987	35	5		5	NLRP12	19	54308674	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	664438	54308674	4820309	655	1854											
MYADM	91663	genome.wustl.edu	37	chr19	54376795	54376795	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagccatgccagtgacGgtaacccgcaccaccatcac	10	7	8	16	2	1	1	1	1	0	0	1	1	1	1	5	1	4	3	5	1	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:54376795G>A	ENST00000391769.2	+	3	292	c.12G>A	c.(10-12)acG>acA	p.T4T	MYADM_ENST00000336967.3_Silent_p.T4T|MYADM_ENST00000391771.1_Silent_p.T4T|MYADM_ENST00000391770.4_Silent_p.T4T|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391768.2_Silent_p.T4T	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	4					establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGCCAGTGACGGTAACCCGCA	0.577											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											0											0													68	58	61					19																	54376795		2203	4300	6503	SO:0001819	synonymous_variant	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.12G>A	19.37:g.54376795G>A		999	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	pfam_Marvel	p.T4	ENST00000391769.2	37	c.12	CCDS12866.1	19																																																																																			0	NULL		0.577	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYADM	protein_coding	OTTHUMT00000134337.1	51	208	0	0.47	0	1	G	NM_138373	0	0		54376795	1	no_errors	ENST00000336967	ensembl	human	known	74_37	silent	10	154	33.33	30.94	5	69	SNP	0.012	A	A	54376795	G	A	54376795	2	1	97	1	0	0	0	0	0	0	0	1	10006	1103	39	2		2	MYADM	19	54376795	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	68121	54376795	4752188	656	1855											
LENG8	114823	genome.wustl.edu	37	chr19	54969669	54969669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagtttgcagatcgggagCgcaaggtcgccctcaaggcc	10	6	13	12	3	1	1	1	0	0	1	3	2	1	2	2	3	2	3	2	3	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:54969669C>T	ENST00000326764.5	+	15	2688	c.2209C>T	c.(2209-2211)Cgc>Tgc	p.R737C	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	700										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)		AGATCGGGAGCGCAAGGTCGC	0.602																																							0											0													85	73	77					19																	54969669		2203	4300	6503	SO:0001583	missense	0			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.2209C>T	19.37:g.54969669C>T	ENSP00000318374:p.Arg737Cys		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R737C	ENST00000326764.5	37	c.2209	CCDS12894.1	19	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037221	0.75617	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846;ENST00000421200	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.36	3.03	0.35002	.	0.075389	0.56097	D	0.000039	D	0.84723	0.5535	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.87604	0.2499	10	0.87932	D	0	-30.5754	10.9951	0.47571	0.4601:0.5399:0.0:0.0	.	737;700	Q96PV6-2;F8W9Q9	.;.	C	737;700;700;737;26	ENSP00000318374:R737C;ENSP00000365709:R700C;ENSP00000388053:R737C;ENSP00000390612:R26C	ENSP00000301196:R700C	R	+	1	0	LENG8	59661481	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.353000	0.59411	1.358000	0.45922	0.561000	0.74099	CGC	0	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25		0.602	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	protein_coding	OTTHUMT00000140523.2	14	119	0	0.00	0	0	C	NM_052925	0	0		54969669	1	no_errors	ENST00000326764	ensembl	human	known	74_37	missense	10	94	23.08	32.62	3	46	SNP	1	T	T	54969669	C	T	54969669	3	4	97	1	0	0	0	0	1	0	0	0	8724	768	27	1	2263	1	LENG8	19	54969669	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	592874	54969669	4159314	657	1856											
NCR1	9437	genome.wustl.edu	37	chr19	55417910	55417910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaaccgttcatctgggccGagccccatttcatggttcca	9	10	8	14	2	3	0	2	0	1	0	4	1	4	0	5	2	2	2	5	2	2	3	rs587627160		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:55417910G>A	ENST00000291890.4	+	3	138	c.100G>A	c.(100-102)Gag>Aag	p.E34K	NCR1_ENST00000598576.1_Missense_Mutation_p.E22K|NCR1_ENST00000338835.5_Missense_Mutation_p.E34K|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.E34K|NCR1_ENST00000594765.1_Missense_Mutation_p.E34K	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	34	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			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)		CATCTGGGCCGAGCCCCATTT	0.542													.|||	1	0.000199681	0	0	5008	,	,		18288	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0													59	64	62					19																	55417910		2203	4300	6503	SO:0001583	missense	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.100G>A	19.37:g.55417910G>A	ENSP00000291890:p.Glu34Lys		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	smart_Ig_sub	p.E34K	ENST00000291890.4	37	c.100	CCDS12911.1	19	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368351	0.24771	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.14022	2.54;2.54;2.54	3.87	-2.54	0.06307	Immunoglobulin-like fold (1);	0.972768	0.08460	N	0.942522	T	0.07954	0.0199	N	0.16098	0.37	0.09310	N	0.999996	B;B;B	0.17268	0.012;0.019;0.021	B;B;B	0.16722	0.008;0.016;0.013	T	0.39702	-0.9601	10	0.36615	T	0.2	.	9.7614	0.40534	0.3884:0.0:0.6116:0.0	.	34;34;34	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	K	34	ENSP00000291890:E34K;ENSP00000404434:E34K;ENSP00000339515:E34K	ENSP00000291890:E34K	E	+	1	0	NCR1	60109722	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.243000	0.08915	-0.548000	0.06199	-0.300000	0.09419	GAG	0	smart_Ig_sub		0.542	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	protein_coding	OTTHUMT00000465680.1	48	147	0	0.00	0	0	G		rs587627160	G->A		55417910	1	no_errors	ENST00000291890	ensembl	human	known	74_37	missense	23	144	34.29	31.43	12	66	SNP	0.003	A	A	55417910	G	A	55417910	3	1	97	1	0	0	0	0	1	0	0	0	10237	1059	37	2	110	2	NCR1	19	55417910	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	448241	55417910	3711073	658	1857											
PTPRH	5794	genome.wustl.edu	37	chr19	55697888	55697888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcatggatgggcttcaGgggcacccgggaccagtcat	7	8	13	13	1	3	0	3	0	0	0	4	2	4	2	3	5	0	2	3	5	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:55697888G>T	ENST00000376350.3	-	15	2609	c.2587C>A	c.(2587-2589)Ctg>Atg	p.L863M	PTPRH_ENST00000263434.5_Missense_Mutation_p.L685M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	863	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		ATGGGCTTCAGGGGCACCCGG	0.587																																							0											0													68	69	69					19																	55697888		2203	4300	6503	SO:0001583	missense	0				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.2587C>A	19.37:g.55697888G>T	ENSP00000365528:p.Leu863Met		C9JCH2|Q15426|Q2NKN9|Q2NKP0	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.L863M	ENST00000376350.3	37	c.2587	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148336	0.78001	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.33654	1.4;1.4	5.25	3.12	0.35913	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.30630	N	0.009207	T	0.69079	0.3071	H	0.96460	3.825	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76313	-0.3005	10	0.87932	D	0	.	11.1338	0.48362	0.1544:0.0:0.8456:0.0	.	685;863	C9JCH2;Q9HD43	.;PTPRH_HUMAN	M	863;685	ENSP00000365528:L863M;ENSP00000263434:L685M	ENSP00000263434:L685M	L	-	1	2	PTPRH	60389700	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	4.844000	0.62846	0.734000	0.32515	0.650000	0.86243	CTG	0	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.587	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	protein_coding	OTTHUMT00000452649.1	18	79	0	0.00	0	0	G		0	0		55697888	-1	no_errors	ENST00000376350	ensembl	human	known	74_37	missense	9	57	35.71	28.75	5	23	SNP	1	T	T	55697888	G	T	55697888	3	4	97	1	0	0	0	0	1	0	0	0	12803	991	35	5	784	5	PTPRH	19	55697888	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	279978	55697888	3431095	659	1858											
UBE2S	27338	genome.wustl.edu	37	chr19	55912864	55912864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccgccagcttcttatcGcgctcgccagcatgcttctt	4	13	9	15	4	2	0	0	0	2	0	4	0	2	0	3	1	3	4	3	1	1	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:55912864G>A	ENST00000264552.9	-	4	796	c.609C>T	c.(607-609)cgC>cgT	p.R203R	UBE2S_ENST00000592570.1_5'Flank|CTD-2105E13.13_ENST00000589101.1_lincRNA|RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	203					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GCTTCTTATCGCGCTCGCCAG	0.667																																							0											0													16	18	17					19																	55912864		1724	3628	5352	SO:0001819	synonymous_variant	0			BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"Ubiquitin-conjugating enzymes E2"	17895	protein-coding gene	gene with protein product	"ubiquitin carrier protein", "ubiquitin-conjugating enzyme E2-24 kD", "ubiquitin-protein ligase"	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.609C>T	19.37:g.55912864G>A			Q9BTC1	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.R203	ENST00000264552.9	37	c.609	CCDS33114.1	19																																																																																			0	NULL		0.667	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2S	protein_coding	OTTHUMT00000453088.1	109	86	0	0.00	0	0	G	NM_014501	0	0		55912864	-1	no_errors	ENST00000264552	ensembl	human	known	74_37	silent	67	56	30.21	34.88	29	30	SNP	0.039	A	A	55912864	G	A	55912864	2	1	97	1	0	0	0	0	0	0	0	1	16869	1074	38	1		1	UBE2S	19	55912864	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	214976	55912864	3216119	660	1859											
ZNF835	90485	genome.wustl.edu	37	chr19	57175295	57175295	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccctggctgaaagctttGccgcactcgccgcacttgta	7	9	11	14	3	0	1	0	1	0	0	1	2	0	1	3	1	3	5	3	1	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:57175295G>A	ENST00000537055.2	-	2	1503	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	424					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						TGAAAGCTTTGCCGCACTCGC	0.672																																							0											0													36	39	38					19																	57175295		2195	4300	6495	SO:0001819	synonymous_variant	0			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.1272C>T	19.37:g.57175295G>A			B7Z5Y0|G3V1S0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G424	ENST00000537055.2	37	c.1272	CCDS56105.1	19																																																																																			0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	protein_coding	OTTHUMT00000459800.1	38	48	0	0.00	0	0	G	NM_001005850	0	0		57175295	-1	no_errors	ENST00000537055	ensembl	human	known	74_37	silent	14	42	33.33	31.15	7	19	SNP	0.925	A	A	57175295	G	A	57175295	2	1	97	1	0	0	0	0	0	0	0	1	18183	1306	46	3		3	ZNF835	19	57175295	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	1262431	57175295	1953688	661	1860											
USP29	57663	genome.wustl.edu	37	chr19	57641022	57641022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggaatatattccctttgagGctcttattatgaccttgacc	9	15	8	9	0	1	3	0	3	1	0	2	4	2	4	3	2	0	1	3	2	5	7			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:57641022G>A	ENST00000254181.4	+	4	1433	c.979G>A	c.(979-981)Gct>Act	p.A327T	USP29_ENST00000598197.1_Missense_Mutation_p.A327T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	327	USP.				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)		TCCCTTTGAGGCTCTTATTAT	0.378																																							0											0													89	89	89					19																	57641022		2203	4300	6503	SO:0001583	missense	0				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.979G>A	19.37:g.57641022G>A	ENSP00000254181:p.Ala327Thr			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.A327T	ENST00000254181.4	37	c.979	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616027	0.46631	.	.	ENSG00000131864	ENST00000254181	T	0.74002	-0.8	2.78	1.73	0.24493	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.028630	0.07814	U	0.958672	T	0.78742	0.4331	L	0.52823	1.66	0.09310	N	1	D	0.58970	0.984	P	0.60236	0.871	T	0.62746	-0.6789	10	0.46703	T	0.11	-0.0501	5.8365	0.18609	0.1504:0.0:0.8496:0.0	.	327	Q9HBJ7	UBP29_HUMAN	T	327	ENSP00000254181:A327T	ENSP00000254181:A327T	A	+	1	0	USP29	62332834	0.989000	0.36119	0.022000	0.16811	0.008000	0.06430	3.548000	0.53670	0.697000	0.31718	-0.150000	0.13652	GCT	0	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.378	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	protein_coding	OTTHUMT00000465075.1	14	249	0	0.00	0	0	G		0	0		57641022	1	no_errors	ENST00000254181	ensembl	human	known	74_37	missense	16	176	20	33.83	4	90	SNP	0.204	A	A	57641022	G	A	57641022	3	1	97	1	0	0	0	0	1	0	0	0	17056	1203	42	3	981	3	USP29	19	57641022	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	465727	57641022	1487961	662	1861											
ZNF419	79744	genome.wustl.edu	37	chr19	58004926	58004926	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcctcatgaaacatcAgagaattcacactggagaaa	16	7	7	11	0	3	3	3	1	0	2	4	5	4	3	2	1	2	0	2	1	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:58004926A>G	ENST00000221735.7	+	5	1187	c.1001A>G	c.(1000-1002)cAg>cGg	p.Q334R	ZNF419_ENST00000415379.2_Missense_Mutation_p.Q288R|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.Q321R|ZNF419_ENST00000426954.2_Missense_Mutation_p.Q322R|ZNF419_ENST00000354197.4_Missense_Mutation_p.Q322R|ZNF419_ENST00000424930.2_Missense_Mutation_p.Q335R|ZNF419_ENST00000347466.6_Missense_Mutation_p.Q302R			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	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)			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)		ATGAAACATCAGAGAATTCAC	0.403																																							0											0													67	65	66					19																	58004926		2199	4289	6488	SO:0001583	missense	0			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.1001A>G	19.37:g.58004926A>G	ENSP00000221735:p.Gln334Arg		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.Q335R	ENST00000221735.7	37	c.1004	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	A	6.497	0.459833	0.12342	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.17691	2.26;2.26;3.2;2.26;2.26;3.2;2.26	2.35	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.12746	0.255	0.23492	N	0.997561	B;B;B;B;P;B;P	0.43909	0.007;0.016;0.039;0.016;0.821;0.062;0.821	B;B;B;B;B;B;B	0.38985	0.012;0.036;0.031;0.021;0.287;0.057;0.287	T	0.17349	-1.0372	9	0.45353	T	0.12	.	9.3514	0.38140	1.0:0.0:0.0:0.0	.	288;288;321;322;335;302;334	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	R	309;335;322;322;321;335;302;288;334	ENSP00000388864:Q335R;ENSP00000390916:Q322R;ENSP00000346136:Q322R;ENSP00000414709:Q321R;ENSP00000299860:Q302R;ENSP00000392129:Q288R;ENSP00000221735:Q334R	ENSP00000221735:Q334R	Q	+	2	0	ZNF419	62696738	0.000000	0.05858	0.475000	0.27278	0.742000	0.42306	0.217000	0.17603	1.067000	0.40740	0.164000	0.16699	CAG	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	protein_coding	OTTHUMT00000378506.1	143	158	0.69	0.00	1	0	A	NM_024691	0	0		58004926	1	no_errors	ENST00000424930	ensembl	human	known	74_37	missense	57	147	30.49	30.33	25	64	SNP	0.95	G	G	58004926	A	G	58004926	3	3	97	1	0	0	0	0	1	0	0	0	17893	188	7	4	1022	4	ZNF419	19	58004926	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	363904	58004926	1124057	663	1862											
ZNF587	84914	genome.wustl.edu	37	chr19	58371214	58371214	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatttggcaataagcacagCgtgactatacatcagaggat	14	11	9	7	1	1	2	1	1	0	1	1	3	1	3	0	2	3	2	0	2	5	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:58371214C>T	ENST00000339656.5	+	3	1616	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Silent_p.S435S|ZNF587_ENST00000423137.1_Silent_p.S477S|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	478					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.S478R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(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;0.0264)		ATAAGCACAGCGTGACTATAC	0.423																																					Pancreas(59;641 1233 1885 20055 50741)		0											1	Substitution - Missense(1)	lung(1)											152	146	148					19																	58371214		2203	4300	6503	SO:0001819	synonymous_variant	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"Zinc fingers, C2H2-type", "-"	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1434C>T	19.37:g.58371214C>T			A0AV72|G3V0H5|Q6ZMK8	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.S478	ENST00000339656.5	37	c.1434	CCDS12964.1	19																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	protein_coding	OTTHUMT00000337594.2	61	60	0	0.00	0	0	C	NM_032828	0	0		58371214	1	no_errors	ENST00000339656	ensembl	human	known	74_37	silent	44	35	30.16	36.36	19	20	SNP	0.001	T	T	58371214	C	T	58371214	2	4	97	1	0	0	0	0	0	0	0	1	18017	767	27	1		1	ZNF587	19	58371214	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	366288	58371214	757769	664	1863											
ZBTB45	84878	genome.wustl.edu	37	chr19	59028858	59028858	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagagtggccgagcagcagCttgtcttggaagaagggtga	10	8	16	7	1	2	3	1	1	1	2	2	5	2	4	1	3	3	3	1	3	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:59028858C>T	ENST00000594051.1	-	2	663	c.183G>A	c.(181-183)aaG>aaA	p.K61K	ZBTB45_ENST00000354590.3_Silent_p.K61K|ZBTB45_ENST00000600990.1_Silent_p.K61K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	61	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		CGAGCAGCAGCTTGTCTTGGA	0.632											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)		0											0													42	43	43					19																	59028858		2203	4300	6503	SO:0001819	synonymous_variant	0			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.183G>A	19.37:g.59028858C>T		1035		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.K61	ENST00000594051.1	37	c.183	CCDS12984.1	19																																																																																			0	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.632	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB45	protein_coding	OTTHUMT00000467067.1	50	34	0	0.00	0	0	C	NM_032792	0	0		59028858	-1	no_errors	ENST00000354590	ensembl	human	known	74_37	silent	21	32	12	27.27	3	12	SNP	1	T	T	59028858	C	T	59028858	2	4	97	1	0	0	0	0	0	0	0	1	17543	796	28	3		3	ZBTB45	19	59028858	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	657644	59028858	100125	665	1864											
ZNF343	79175	genome.wustl.edu	37	chr20	2464361	2464361	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttctggctaaagcctcGcccacactccctgcaaacat	10	9	7	15	1	1	1	0	1	1	0	3	1	2	1	3	1	3	3	3	1	3	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:2464361G>A	ENST00000278772.4	-	6	1733	c.1246C>T	c.(1246-1248)Cga>Tga	p.R416*	RP4-734P14.4_ENST00000461548.1_Intron	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	416					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						CTAAAGCCTCGCCCACACTCC	0.502																																							0											0													109	102	104					20																	2464361		2203	4300	6503	SO:0001587	stop_gained	0			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.1246C>T	20.37:g.2464361G>A	ENSP00000278772:p.Arg416*		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	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.R416*	ENST00000278772.4	37	c.1246	CCDS13028.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.582227	0.97680	.	.	ENSG00000088876	ENST00000278772	.	.	.	2.64	-3.08	0.05347	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	3.0896	0.06289	0.2634:0.0:0.2653:0.4713	.	.	.	.	X	416	.	ENSP00000278772:R416X	R	-	1	2	ZNF343	2412361	0.004000	0.15560	0.002000	0.10522	0.242000	0.25591	1.042000	0.30303	-0.299000	0.08909	-0.236000	0.12185	CGA	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.502	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	protein_coding	OTTHUMT00000077617.1	66	67	0	0.00	0	0	G	NM_024325	0	0		2464361	-1	no_errors	ENST00000278772	ensembl	human	known	74_37	nonsense	50	63	15.25	25.00	9	21	SNP	0.119	A	A	2464361	G	A	2464361	4	1	97	1	0	0	0	0	0	1	0	0	17855	1095	38	1	557	1	ZNF343	20	2464361	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09		2464361	60561159	666	1865											
CPXM1	56265	genome.wustl.edu	37	chr20	2776648	2776648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggcattgggcagggtgtAgtaagtgggcaatggcaggt	8	9	20	4	0	0	0	0	0	0	0	0	0	0	0	0	7	0	6	0	7	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:2776648A>G	ENST00000380605.2	-	10	1466	c.1402T>C	c.(1402-1404)Tac>Cac	p.Y468H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	468					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						GGCAGGGTGTAGTAAGTGGGC	0.592																																							0											0													148	136	140					20																	2776648		2203	4300	6503	SO:0001583	missense	0			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.1402T>C	20.37:g.2776648A>G	ENSP00000369979:p.Tyr468His		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.Y468H	ENST00000380605.2	37	c.1402	CCDS13033.1	20	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612033	0.66672	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.05513	3.43	5.18	5.18	0.71444	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.26846	0.0657	M	0.82323	2.585	0.48975	D	0.999733	D	0.89917	1.0	D	0.91635	0.999	T	0.01508	-1.1337	10	0.62326	D	0.03	-22.9111	13.0269	0.58821	1.0:0.0:0.0:0.0	.	468	Q96SM3	CPXM1_HUMAN	H	468;164	ENSP00000369979:Y468H	ENSP00000369979:Y468H	Y	-	1	0	CPXM1	2724648	1.000000	0.71417	0.980000	0.43619	0.751000	0.42716	5.888000	0.69758	2.168000	0.68352	0.460000	0.39030	TAC	0	pfam_Peptidase_M14,smart_Peptidase_M14		0.592	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	protein_coding	OTTHUMT00000077643.2	65	170	0	0.58	0	1	A	NM_019609	0	0		2776648	-1	no_errors	ENST00000380605	ensembl	human	known	74_37	missense	35	137	25.53	25.95	12	48	SNP	1	G	G	2776648	A	G	2776648	3	3	97	1	0	0	0	0	1	0	0	0	3837	420	15	4	822	4	CPXM1	20	2776648	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	312287	2776648	60248872	667	1866											
ProSAPiP1	9762	genome.wustl.edu	37	chr20	3145236	3145236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgctccagctgctggttgCgctggtacatctccacgtag	5	11	12	13	3	1	0	0	0	1	0	3	0	2	0	2	2	5	7	2	2	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:3145236C>T	ENST00000329152.3	-	3	3283	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	LZTS3_ENST00000360342.3_Missense_Mutation_p.R583H|LZTS3_ENST00000337576.5_Missense_Mutation_p.R583H			O60299	LZTS3_HUMAN		629						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											CTGCTGGTTGCGCTGGTACAT	0.677																																							0											0													49	44	46					20																	3145236		2203	4299	6502	SO:0001583	missense	0																														ENST00000329152.3:c.1886G>A	20.37:g.3145236C>T	ENSP00000332123:p.Arg629His		A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	NULL	p.R629H	ENST00000329152.3	37	c.1886	CCDS13049.1	20	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750013	0.69533	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.55413	0.52;0.52;0.52	4.69	4.69	0.59074	.	0.058173	0.64402	D	0.000007	T	0.63236	0.2494	M	0.69358	2.11	0.35712	D	0.816481	D;D	0.76494	0.999;0.999	P;D	0.66602	0.869;0.945	T	0.71083	-0.4695	10	0.51188	T	0.08	-14.3008	5.5658	0.17170	0.0:0.761:0.0:0.239	.	583;629	O60299-2;O60299	.;PRIP1_HUMAN	H	629;583;583	ENSP00000332123:R629H;ENSP00000353496:R583H;ENSP00000338166:R583H	ENSP00000332123:R629H	R	-	2	0	RP5-1187M17.10	3093236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.276000	0.51646	2.442000	0.82660	0.555000	0.69702	CGC	0	NULL		0.677	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS3	protein_coding	OTTHUMT00000077715.2	11	37	0	0.00	0	0	C		0	0		3145236	-1	no_errors	ENST00000329152	ensembl	human	known	74_37	missense	13	43	38.1	27.12	8	16	SNP	1	T	T	3145236	C	T	3145236	3	4	97	1	0	0	0	0	1	0	0	0	12870	768	27	1	139	1	ProSAPiP1	20	3145236	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	368588	3145236	59880284	668	1867											
LRRN4	164312	genome.wustl.edu	37	chr20	6032917	6032917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccagcgcggtgcaggagaGgttgaggagctgcagcgcgg	8	4	19	10	4	0	2	0	1	0	1	0	4	0	3	1	5	5	4	1	5	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:6032917G>T	ENST00000378858.4	-	2	753	c.529C>A	c.(529-531)Ctc>Atc	p.L177I		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	177					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						GTGCAGGAGAGGTTGAGGAGC	0.751																																							0											0													3	3	3					20																	6032917		1956	3811	5767	SO:0001583	missense	0			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.529C>A	20.37:g.6032917G>T	ENSP00000368135:p.Leu177Ile		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L177I	ENST00000378858.4	37	c.529	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967816	0.53507	.	.	ENSG00000125872	ENST00000378858	T	0.74421	-0.84	5.08	3.09	0.35607	.	0.000000	0.50627	D	0.000107	T	0.79209	0.4407	L	0.48986	1.54	0.36177	D	0.849156	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.992	T	0.81263	-0.1012	10	0.52906	T	0.07	-23.1676	7.2649	0.26224	0.1481:0.0:0.714:0.1379	.	177;177	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	I	177	ENSP00000368135:L177I	ENSP00000368135:L177I	L	-	1	0	LRRN4	5980917	1.000000	0.71417	0.976000	0.42696	0.040000	0.13550	2.225000	0.42954	1.259000	0.44117	0.563000	0.77884	CTC	0	NULL		0.751	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	protein_coding	OTTHUMT00000077907.2	10	5	0	0.00	0	0	G	NM_152611	0	0		6032917	-1	no_errors	ENST00000378858	ensembl	human	known	74_37	missense	0	6	100	33.33	2	3	SNP	0.997	T	T	6032917	G	T	6032917	3	4	97	1	0	0	0	0	1	0	0	0	9037	1000	35	5	1709	5	LRRN4	20	6032917	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2887681	6032917	56992603	669	1868											
CSRP2BP	57325	genome.wustl.edu	37	chr20	18125916	18125917	+	Frame_Shift_Ins	INS	-	-	T																															agttaccttaagggtgataaINStttttttaggtttacttgtt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:18125916_18125917insT	ENST00000435364.3	+	2	640_641	c.299_300insT	c.(298-303)aattttfs	p.NF100fs	CSRP2BP_ENST00000377681.3_Frame_Shift_Ins_p.NF100fs|CSRP2BP_ENST00000489634.2_5'UTR	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	100					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AAGGGTGATAATTTTTTTAGGT	0.441																																							0											0																																										SO:0001589	frameshift_variant	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.306dupT	20.37:g.18125923_18125923dupT	ENSP00000392318:p.Asn100fs		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Frame_Shift_Ins	INS	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.R103fs	ENST00000435364.3	37	c.299_300	CCDS13133.1	20																																																																																			0	NULL		0.441	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	protein_coding	OTTHUMT00000078152.5	41	170	0	0.00	0	0	0	NM_020536	0	0		18125917	1	no_errors	ENST00000435364	ensembl	human	known	74_37	frame_shift_ins	31	147	34.04	23.83	16	46	INS	1.000:1.000	T	T	18125917	-	T	18125916	7	5	97	1	0	1	1	0	0	0	0	0	3968	101	4	0	305	0	CSRP2BP	20	18125916	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	12092999	18125916	44899604	670	1869											
FOXA2	3170	genome.wustl.edu	37	chr20	22562846	22562846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcctgctgctgctgcccgGgagagggcgccggctctggg	2	6	19	14	4	1	1	0	0	1	1	1	2	1	1	3	5	4	4	3	5	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:22562846G>A	ENST00000377115.4	-	3	1197	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	FOXA2_ENST00000419308.2_Missense_Mutation_p.P345L	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	339					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)					CTGCTGCCCGGGAGAGGGCGC	0.761																																							0											0													9	9	9					20																	22562846		1944	3700	5644	SO:0001583	missense	0			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.1016C>T	20.37:g.22562846G>A	ENSP00000366319:p.Pro339Leu		Q8WUW4|Q96DF7	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.P345L	ENST00000377115.4	37	c.1034	CCDS13147.1	20	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501134	0.26861	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.91631	-2.87;-2.87;-2.88	4.29	4.29	0.51040	.	1.057920	0.07563	U	0.917291	D	0.93887	0.8044	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86939	0.2078	10	0.08381	T	0.77	.	16.8871	0.86078	0.0:0.0:1.0:0.0	.	339;345	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	L	339;339;345;225	ENSP00000366319:P339L;ENSP00000400341:P339L;ENSP00000315955:P345L	ENSP00000315955:P345L	P	-	2	0	FOXA2	22510846	1.000000	0.71417	0.894000	0.35097	0.219000	0.24729	6.247000	0.72411	2.352000	0.79861	0.586000	0.80456	CCC	0	NULL		0.761	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	protein_coding	OTTHUMT00000078289.1	19	14	0	0.00	0	0	G		0	0		22562846	-1	no_errors	ENST00000419308	ensembl	human	known	74_37	missense	12	2	25	0.00	4	0	SNP	1	A	A	22562846	G	A	22562846	3	1	97	1	0	0	0	0	1	0	0	0	5990	1232	43	3	361	3	FOXA2	20	22562846	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	4436930	22562846	40462674	671	1870											
SSTR4	6754	genome.wustl.edu	37	chr20	23016417	23016417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgagctcttcatgctgagCgtgcccttcgtggcctcgtc	4	11	12	14	4	2	1	1	1	1	0	5	3	2	1	2	1	4	2	2	1	0	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:23016417C>T	ENST00000255008.3	+	1	361	c.297C>T	c.(295-297)agC>agT	p.S99S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	99					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)					TCATGCTGAGCGTGCCCTTCG	0.637																																					Esophageal Squamous(15;850 1104 16640)		0											0													106	109	108					20																	23016417		2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.297C>T	20.37:g.23016417C>T			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.S99	ENST00000255008.3	37	c.297	CCDS42856.1	20																																																																																			0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Neuropept_B/W_rcpt		0.637	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	protein_coding	OTTHUMT00000078308.1	29	25	0	0.00	0	0	C		0	0		23016417	1	no_errors	ENST00000255008	ensembl	human	known	74_37	silent	7	20	41.67	20.00	5	5	SNP	0.906	T	T	23016417	C	T	23016417	2	4	97	1	0	0	0	0	0	0	0	1	15199	767	27	1		1	SSTR4	20	23016417	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	453571	23016417	40009103	672	1871											
KIF3B	9371	genome.wustl.edu	37	chr20	30915423	30915423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaccattgagccagcacGcaagaatgtccatgatgatt	14	8	10	9	1	0	5	0	3	0	2	1	6	1	5	3	0	2	2	3	0	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:30915423G>A	ENST00000375712.3	+	7	2094	c.1927G>A	c.(1927-1929)Gca>Aca	p.A643T	KIF3B_ENST00000418717.2_Missense_Mutation_p.A269T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	643	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)			GAGCCAGCACGCAAGAATGTC	0.488																																							0											0													128	112	117					20																	30915423		2203	4300	6503	SO:0001583	missense	0			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.1927G>A	20.37:g.30915423G>A	ENSP00000364864:p.Ala643Thr		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.A643T	ENST00000375712.3	37	c.1927	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.497637	0.96355	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.76186	-1.0;0.26	5.32	5.32	0.75619	.	0.055089	0.64402	D	0.000001	D	0.85366	0.5680	M	0.85041	2.73	0.80722	D	1	D;D	0.63046	0.989;0.992	P;P	0.55667	0.51;0.781	D	0.86068	0.1536	10	0.51188	T	0.08	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	269;643	B4DSR5;O15066	.;KIF3B_HUMAN	T	643;269	ENSP00000364864:A643T;ENSP00000406287:A269T	ENSP00000364864:A643T	A	+	1	0	KIF3B	30379084	1.000000	0.71417	0.794000	0.32065	0.878000	0.50629	9.118000	0.94355	2.941000	0.99782	0.655000	0.94253	GCA	0	NULL		0.488	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	protein_coding	OTTHUMT00000078619.1	19	254	0	0.00	0	0	G	NM_004798	0	0		30915423	1	no_errors	ENST00000375712	ensembl	human	known	74_37	missense	16	141	15.79	34.42	3	74	SNP	1	A	A	30915423	G	A	30915423	3	1	97	1	0	0	0	0	1	0	0	0	8301	1087	38	1	1949	1	KIF3B	20	30915423	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	7899006	30915423	32110097	673	1872											
GDF5	8200	genome.wustl.edu	37	chr20	34022399	34022399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaggaggccggctgccGgccgctggggcagctggaca	7	3	18	13	3	0	0	0	0	0	0	0	2	0	2	3	7	3	5	3	7	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:34022399G>A	ENST00000374372.1	-	4	1317	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	GDF5_ENST00000374369.3_Missense_Mutation_p.R272W|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R148Q			P43026	GDF5_HUMAN	growth differentiation factor 5	272					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)			GCCGGCTGCCGGCCGCTGGGG	0.672																																							0											0													10	13	12					20																	34022399		2122	4224	6346	SO:0001583	missense	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.814C>T	20.37:g.34022399G>A	ENSP00000363492:p.Arg272Trp		E1P5Q2|Q96SB1	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.R272W	ENST00000374372.1	37	c.814	CCDS13254.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.89|13.89	2.372451|2.372451	0.42003|0.42003	.|.	.|.	ENSG00000204183|ENSG00000125965	ENST00000374375|ENST00000374369;ENST00000374372	.|T;T	.|0.65364	.|-0.15;-0.15	4.56|4.56	4.56|4.56	0.56223|0.56223	.|Transforming growth factor-beta, N-terminal (1);	0.281432|0.281432	0.28921|0.28921	N|N	0.013708|0.013708	T|T	0.50565|0.50565	0.1623|0.1623	L|L	0.47716|0.47716	1.5|1.5	0.46260|0.46260	D|D	0.99895|0.99895	.|B;B	.|0.32829	.|0.386;0.081	.|B;B	.|0.20577	.|0.03;0.009	T|T	0.54735|0.54735	-0.8249|-0.8249	7|10	0.87932|0.46703	D|T	0|0.11	.|.	11.9803|11.9803	0.53115|0.53115	0.0:0.0:0.718:0.282|0.0:0.0:0.718:0.282	.|.	.|272;272	.|F1T0J1;P43026	.|.;GDF5_HUMAN	Q|W	148|272	.|ENSP00000363489:R272W;ENSP00000363492:R272W	ENSP00000363495:R148Q|ENSP00000363489:R272W	R|R	+|-	2|1	0|2	GDF5OS|GDF5	33485813|33485813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.767000|1.767000	0.38501|0.38501	2.353000|2.353000	0.79882|0.79882	0.491000|0.491000	0.48974|0.48974	CGG|CGG	0	pfam_TGF-b_N		0.672	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	protein_coding	OTTHUMT00000078875.2	26	10	0	0.00	0	0	G		0	0		34022399	-1	no_errors	ENST00000374369	ensembl	human	known	74_37	missense	15	6	44.44	57.14	12	8	SNP	1	A	A	34022399	G	A	34022399	3	1	97	1	0	0	0	0	1	0	0	0	6316	1115	39	2	695	2	GDF5	20	34022399	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	3106976	34022399	29003121	674	1873											
KIAA0406	9675	genome.wustl.edu	37	chr20	36625224	36625224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttgaaggccagcgtgtgCgagtaaactggtccagccct	10	8	12	11	2	0	1	0	1	0	0	1	2	1	1	3	2	5	1	3	2	4	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:36625224C>T	ENST00000373448.2	-	7	3163	c.2925G>A	c.(2923-2925)tcG>tcA	p.S975S	TTI1_ENST00000373447.3_Silent_p.S975S|TTI1_ENST00000449821.1_Silent_p.S975S	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)				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						CCAGCGTGTGCGAGTAAACTG	0.602																																							0											0													102	106	104					20																	36625224		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2925G>A	20.37:g.36625224C>T			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.S975	ENST00000373448.2	37	c.2925	CCDS13300.1	20																																																																																			0	superfamily_ARM-type_fold,pirsf_UCP005250		0.602	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	protein_coding	OTTHUMT00000079138.2	44	105	0	0.00	0	0	C	NM_014657	0	0		36625224	-1	no_errors	ENST00000373447	ensembl	human	known	74_37	silent	23	84	20.69	24.32	6	27	SNP	0.993	T	T	36625224	C	T	36625224	2	4	97	1	0	0	0	0	0	0	0	1	8173	755	27	1		1	KIAA0406	20	36625224	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2602825	36625224	26400296	675	1874											
TOP1	7150	genome.wustl.edu	37	chr20	39690075	39690075	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacaaagatcgagaacacCggcacaaagaacacaagaag	22	1	8	10	2	0	4	0	0	0	4	1	5	0	4	1	1	3	1	1	1	7	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:39690075C>A	ENST00000361337.2	+	3	350	c.100C>A	c.(100-102)Cgg>Agg	p.R34R		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	34	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	tCGAGAACACCGGCACAAAGA	0.438			T	NUP98	AML*																																		0		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													104	94	97					20																	39690075		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.100C>A	20.37:g.39690075C>A			A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	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.R34	ENST00000361337.2	37	c.100	CCDS13312.1	20																																																																																			0	NULL		0.438	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1	protein_coding	OTTHUMT00000080397.2	78	181	0	0.00	0	0	C		0	0		39690075	1	no_errors	ENST00000361337	ensembl	human	known	74_37	silent	48	181	9.43	6.22	5	12	SNP	1	A	A	39690075	C	A	39690075	2	1	97	1	0	0	0	0	0	0	0	1	16360	643	23	5		5	TOP1	20	39690075	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3064851	39690075	23335445	676	1875											
CHD6	84181	genome.wustl.edu	37	chr20	40033425	40033425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttcttcttcctcttctgGctctccagacctactatttc	4	19	3	15	0	6	1	0	0	6	1	9	1	7	1	3	1	1	1	3	1	2	8			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:40033425G>A	ENST00000373233.3	-	37	8133	c.7956C>T	c.(7954-7956)agC>agT	p.S2652S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2652					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)				TCCTCTTCTGGCTCTCCAGAC	0.567																																							0											0													57	63	61					20																	40033425		2203	4300	6503	SO:0001819	synonymous_variant	0			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.7956C>T	20.37:g.40033425G>A			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.S2652	ENST00000373233.3	37	c.7956	CCDS13317.1	20																																																																																			0	NULL		0.567	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	protein_coding	OTTHUMT00000079270.1	33	92	0	0.00	0	0	G		0	0		40033425	-1	no_errors	ENST00000373233	ensembl	human	known	74_37	silent	19	69	20.83	31.07	5	32	SNP	1	A	A	40033425	G	A	40033425	2	1	97	1	0	0	0	0	0	0	0	1	3329	1194	42	3		3	CHD6	20	40033425	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	343350	40033425	22992095	677	1876											
TSHZ2	128553	genome.wustl.edu	37	chr20	51871248	51871248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcctccaagaaagggaaGcagctggtattagacccgtt	11	9	11	10	1	1	2	0	0	1	2	2	3	2	3	3	2	3	4	3	2	5	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:51871248G>T	ENST00000371497.5	+	2	2138	c.1251G>T	c.(1249-1251)aaG>aaT	p.K417N	TSHZ2_ENST00000603338.2_Missense_Mutation_p.K414N|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.K414N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	417					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)			AGAAAGGGAAGCAGCTGGTAT	0.532																																							0											0													118	116	117					20																	51871248		2203	4300	6503	SO:0001583	missense	0			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.1251G>T	20.37:g.51871248G>T	ENSP00000360552:p.Lys417Asn		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.K417N	ENST00000371497.5	37	c.1251	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303073	0.60195	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.29397	1.57;1.57	5.95	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.27536	-1.0071	10	0.87932	D	0	-16.313	9.3989	0.38420	0.2135:0.0:0.7865:0.0	.	417	Q9NRE2	TSH2_HUMAN	N	417;414	ENSP00000360552:K417N;ENSP00000333114:K414N	ENSP00000333114:K414N	K	+	3	2	TSHZ2	51304655	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.971000	0.49248	1.512000	0.48834	0.643000	0.83706	AAG	0	NULL		0.532	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	protein_coding	OTTHUMT00000080398.6	40	149	0	0.00	0	0	G	NM_173485	0	0		51871248	1	no_errors	ENST00000371497	ensembl	human	known	74_37	missense	14	113	46.15	29.38	12	47	SNP	1	T	T	51871248	G	T	51871248	3	4	97	1	0	0	0	0	1	0	0	0	16621	962	34	5	1257	5	TSHZ2	20	51871248	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	11837823	51871248	11154272	678	1877											
LAMA5	3911	genome.wustl.edu	37	chr20	60921237	60921237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacccgtcaggtcctcgcaGgtgccatccgtgaagtcgga	7	7	13	14	5	1	1	1	1	0	0	5	3	3	2	4	3	1	1	4	3	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:60921237G>A	ENST00000252999.3	-	10	1383	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	LAMA5_ENST00000370677.3_Silent_p.T439T|LAMA5_ENST00000370692.3_Silent_p.T439T	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	439	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			GGTCCTCGCAGGTGCCATCCG	0.647																																							0											0													47	39	42					20																	60921237		2200	4296	6496	SO:0001819	synonymous_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1317C>T	20.37:g.60921237G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	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.T439	ENST00000252999.3	37	c.1317	CCDS33502.1	20																																																																																			0	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin		0.647	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	protein_coding	OTTHUMT00000080014.2	26	73	0	0.00	0	0	G	NM_005560	0	0		60921237	-1	no_errors	ENST00000252999	ensembl	human	known	74_37	silent	29	55	30.95	26.67	13	20	SNP	0.996	A	A	60921237	G	A	60921237	2	1	97	1	0	0	0	0	0	0	0	1	8609	987	35	3		3	LAMA5	20	60921237	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	9049989	60921237	2104283	679	1878											
C20orf151	140893	genome.wustl.edu	37	chr20	60990955	60990956	+	Frame_Shift_Ins	INS	-	-	G																															gaggggagcagcaggggtgaINSgggggggtccgaggtgccct																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:60990955_60990956insG	ENST00000252998.1	-	7	588_589	c.432_433insC	c.(430-435)ccctcafs	p.S145fs		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	145						extracellular space (GO:0005615)											AGCAGGGGTGAGGGGGGGTCCG	0.683																																							0											0																																										SO:0001589	frameshift_variant	0			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.433dupC	20.37:g.60990962_60990962dupG	ENSP00000252998:p.Ser145fs		B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Frame_Shift_Ins	INS	pfam_CtIP_N	p.S144fs	ENST00000252998.1	37	c.433_432	CCDS13498.1	20																																																																																			0	NULL		0.683	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP8NL	protein_coding	OTTHUMT00000080029.1	13	19	0	0.00	0	0	0	NM_080833	0	0		60990956	-1	no_errors	ENST00000252998	ensembl	human	known	74_37	frame_shift_ins	16	12	15.79	25.00	3	4	INS	0.246:0.005	G	G	60990956	-	G	60990955	7	5	97	1	0	1	1	0	0	0	0	0	2091	304	11	0	1593	0	C20orf151	20	60990955	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	69718	60990955	2034565	680	1879											
JAM2	58494	genome.wustl.edu	37	chr21	27066109	27066109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgatagatttcaatatcCggatcaaaaatgtgacaaga	18	10	8	5	1	2	5	2	2	0	3	3	6	3	6	1	1	0	0	1	1	6	3	rs372458284		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:27066109C>T	ENST00000480456.1	+	4	833	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	JAM2_ENST00000425221.2_Missense_Mutation_p.R59W|JAM2_ENST00000312957.5_Missense_Mutation_p.R95W|JAM2_ENST00000400532.1_Missense_Mutation_p.R95W	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	95	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTTCAATATCCGGATCAAAAA	0.378																																							0											0								C	TRP/ARG	1,3735		0,1,1867	129	126	127		283	3.6	1	21		127	0,8208		0,0,4104	no	missense	JAM2	NM_021219.2	101	0,1,5971	TT,TC,CC		0.0,0.0268,0.0084	possibly-damaging	95/299	27066109	1,11943	1868	4104	5972	SO:0001583	missense	0			AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.283C>T	21.37:g.27066109C>T	ENSP00000420419:p.Arg95Trp		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R95W	ENST00000480456.1	37	c.283	CCDS42911.1	21	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406580	0.42715	2.68E-4	0.0	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.56	3.59	0.41128	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.122923	0.52532	D	0.000074	T	0.60038	0.2238	L	0.51422	1.61	0.35184	D	0.772742	P;P;P;P;P	0.45428	0.685;0.858;0.858;0.67;0.735	B;B;B;B;B	0.40565	0.189;0.333;0.333;0.165;0.244	T	0.73597	-0.3932	10	0.56958	D	0.05	.	12.7206	0.57140	0.3091:0.6909:0.0:0.0	.	59;95;95;95;95	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	W	95;95;95;95;95;59	ENSP00000420419:R95W;ENSP00000383376:R95W;ENSP00000318416:R95W;ENSP00000392611:R59W	ENSP00000318416:R95W	R	+	1	2	JAM2	25987980	0.778000	0.28640	0.998000	0.56505	0.840000	0.47671	0.863000	0.27913	1.550000	0.49438	0.655000	0.94253	CGG	0	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.378	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JAM2	protein_coding	OTTHUMT00000171347.1	102	200	0	0.00	0	0	C		rs372458284	C->T		27066109	1	no_errors	ENST00000312957	ensembl	human	known	74_37	missense	60	201	31.03	25.28	27	68	SNP	0.962	T	T	27066109	C	T	27066109	3	4	97	1	0	0	0	0	1	0	0	0	7943	643	23	2	297	2	JAM2	21	27066109	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09		27066109	21063786	681	1880											
SON	6651	genome.wustl.edu	37	chr21	34926132	34926132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgaacatggtataaataTagaccttaatataaataatc	20	12	5	4	0	0	2	0	1	0	1	1	2	0	2	1	1	1	1	1	1	12	8			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:34926132T>C	ENST00000356577.4	+	3	5070	c.4595T>C	c.(4594-4596)aTa>aCa	p.I1532T	SON_ENST00000290239.6_Missense_Mutation_p.I1532T|SON_ENST00000300278.4_Missense_Mutation_p.I1532T|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.I1532T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1532					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGTATAAATATAGACCTTAAT	0.383																																							0											0													45	49	48					21																	34926132		2203	4300	6503	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4595T>C	21.37:g.34926132T>C	ENSP00000348984:p.Ile1532Thr		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.I1532T	ENST00000356577.4	37	c.4595	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.231|0.231	-1.020698|-1.020698	0.02061|0.02061	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.12255|.	2.87;2.87;2.87;2.7|.	5.55|5.55	-6.13|-6.13	0.02118|0.02118	.|.	1.289600|.	0.05033|.	N|.	0.474964|.	T|.	0.17831|.	0.0428|.	N|N	0.13235|0.13235	0.315|0.315	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.20164|.	0.001;0.0;0.0;0.0;0.042|.	B;B;B;B;B|.	0.18263|.	0.001;0.0;0.0;0.0;0.021|.	T|.	0.33059|.	-0.9883|.	10|.	0.12103|.	T|.	0.63|.	.|.	8.3202|8.3202	0.32124|0.32124	0.0:0.5063:0.2228:0.2709|0.0:0.5063:0.2228:0.2709	.|.	1532;1532;1213;1532;1532|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	T|Q	1532|527	ENSP00000348984:I1532T;ENSP00000290239:I1532T;ENSP00000300278:I1532T;ENSP00000371095:I1532T|.	ENSP00000290239:I1532T|.	I|X	+|+	2|1	0|0	SON|SON	33848002|33848002	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.465000|0.465000	0.32709|0.32709	-1.393000|-1.393000	0.02521|0.02521	-0.995000|-0.995000	0.03459|0.03459	-0.326000|-0.326000	0.08463|0.08463	ATA|TAG	0	NULL		0.383	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	protein_coding	OTTHUMT00000140978.2	68	212	0	0.00	0	0	T	NM_138927	0	0		34926132	1	no_errors	ENST00000356577	ensembl	human	known	74_37	missense	33	159	34	32.49	17	77	SNP	0	C	C	34926132	T	C	34926132	3	2	97	1	0	0	0	0	1	0	0	0	14926	1406	49	3	4605	3	SON	21	34926132	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	7860023	34926132	13203763	682	1881											
MORC3	23515	genome.wustl.edu	37	chr21	37732258	37732258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttttgggacaggaagcGtcctgatcagacatgggttc	8	12	13	8	1	1	2	1	1	0	1	3	4	2	4	1	3	1	2	1	3	1	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:37732258G>A	ENST00000400485.1	+	11	1290	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	AP000692.9_ENST00000397184.2_RNA|MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	405					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						GACAGGAAGCGTCCTGATCAG	0.398																																							0											0													177	168	171					21																	37732258		2027	4211	6238	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1214G>A	21.37:g.37732258G>A	ENSP00000383333:p.Arg405His		A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.R405H	ENST00000400485.1	37	c.1214	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492017	0.44352	.	.	ENSG00000159256	ENST00000400485	T	0.18960	2.18	5.56	5.56	0.83823	Zinc finger, CW-type (1);	0.245292	0.40222	N	0.001150	T	0.15478	0.0373	L	0.36672	1.1	0.80722	D	1	B	0.25809	0.135	B	0.17979	0.02	T	0.05194	-1.0900	10	0.39692	T	0.17	-10.7049	8.3078	0.32053	0.0835:0.0:0.76:0.1565	.	405	Q14149	MORC3_HUMAN	H	405	ENSP00000383333:R405H	ENSP00000383333:R405H	R	+	2	0	MORC3	36654128	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.345000	0.52182	2.608000	0.88229	0.460000	0.39030	CGT	0	pfscan_Znf_CW		0.398	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	protein_coding	OTTHUMT00000194640.1	85	239	0	0.41	0	1	G	NM_015358	0	0		37732258	1	no_errors	ENST00000400485	ensembl	human	known	74_37	missense	33	182	37.74	30.27	20	79	SNP	0.992	A	A	37732258	G	A	37732258	3	1	97	1	0	0	0	0	1	0	0	0	9703	1145	40	1	1256	1	MORC3	21	37732258	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2806126	37732258	10397637	683	1882											
DSCR3	10311	genome.wustl.edu	37	chr21	38600536	38600536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaccgcacgtctccaCgcgcaccagctgcagctcca	7	5	8	21	4	2	0	1	0	1	0	4	0	3	0	5	0	3	5	5	0	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:38600536C>T	ENST00000309117.6	-	6	883	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	DSCR3_ENST00000398998.1_Missense_Mutation_p.V168M|DSCR3_ENST00000539844.1_Missense_Mutation_p.V139M|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000476950.1_Missense_Mutation_p.V189M|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000399001.1_Missense_Mutation_p.V91M|DSCR3_ENST00000288304.5_Missense_Mutation_p.R173H	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	216						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CACGTCTCCACGCGCACCAGC	0.637																																							0											0													72	67	69					21																	38600536		2203	4300	6503	SO:0001583	missense	0			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.646G>A	21.37:g.38600536C>T	ENSP00000311399:p.Val216Met		B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set	p.V216M	ENST00000309117.6	37	c.646	CCDS33553.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.314238|4.314238	0.81358|0.81358	.|.	.|.	ENSG00000157538|ENSG00000157538	ENST00000471543;ENST00000288304|ENST00000309117;ENST00000539844;ENST00000399001;ENST00000476950;ENST00000398998	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.062478	.|0.64402	.|D	.|0.000006	T|T	0.81138|0.81138	0.4760|0.4760	M|M	0.80422|0.80422	2.495|2.495	0.34990|0.34990	D|D	0.75494|0.75494	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;D	.|0.80764	.|0.984;0.994;0.991;0.969	D|D	0.86596|0.86596	0.1863|0.1863	6|9	0.72032|0.72032	D|D	0.01|0.01	0.148|0.148	19.3643|19.3643	0.94456|0.94456	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|91;139;189;216	.|A8MY26;B7Z606;B7Z6B1;O14972	.|.;.;.;DSCR3_HUMAN	H|M	21;173|216;139;91;189;168	.|.	ENSP00000288304:R173H|ENSP00000311399:V216M	R|V	-|-	2|1	0|0	DSCR3|DSCR3	37522406|37522406	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.741000|7.741000	0.84997|0.84997	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	CGT|GTG	0	pfam_VPS26		0.637	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR3	protein_coding	OTTHUMT00000194807.1	23	31	0	0.00	0	0	C		0	0		38600536	-1	no_errors	ENST00000309117	ensembl	human	known	74_37	missense	11	32	26.67	25.58	4	11	SNP	1	T	T	38600536	C	T	38600536	3	4	97	1	0	0	0	0	1	0	0	0	4771	536	19	1	259	1	DSCR3	21	38600536	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	868278	38600536	9529359	684	1883											
DSCAM	1826	genome.wustl.edu	37	chr21	41446994	41446994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagcctctgctcccgccGcctcctccgcacaaccagca	6	8	6	21	3	1	0	0	0	1	0	4	0	4	0	7	0	4	3	7	0	2	2	rs201077680	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:41446994G>T	ENST00000400454.1	-	27	5335	c.4858C>A	c.(4858-4860)Cgg>Agg	p.R1620R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1620					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)				TGCTCCCGCCGCCTCCTCCGC	0.627													G|||	2	0.000399361	0	0	5008	,	,		16671	0		0	False		,,,				2504	0.002				Melanoma(134;970 1778 1785 21664 32388)		0.9996,0.0003994											0								G		0,4224		0,0,2112	67	83	78		4858	-0.5	0.3	21		78	7,8423		0,7,4208	no	coding-synonymous	DSCAM	NM_001389.3		0,7,6320	TT,TG,GG		0.083,0.0,0.0553		1620/2013	41446994	7,12647	2112	4215	6327	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4858C>A	21.37:g.41446994G>T			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.R1620	ENST00000400454.1	37	c.4858	CCDS42929.1	21																																																																																			0	NULL		0.627	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	57	56	0	0.00	0	0	G	NM_001389	rs201077680	G->T		41446994	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	22	47	43.59	22.95	17	14	SNP	0.998	T	T	41446994	G	T	41446994	2	4	97	1	0	0	0	0	0	0	0	1	4768	1086	38	5		5	DSCAM	21	41446994	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2846458	41446994	6682901	685	1884											
ABCG1	9619	genome.wustl.edu	37	chr21	43710176	43710176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtcctgacacacctgcGcatcacctcgcacattggga	9	7	9	16	2	1	1	1	1	0	0	3	2	2	2	4	2	1	2	4	2	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:43710176G>A	ENST00000361802.2	+	11	1422	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	ABCG1_ENST00000398457.2_Missense_Mutation_p.R416H|ABCG1_ENST00000347800.2_Missense_Mutation_p.R411H|ABCG1_ENST00000340588.4_Missense_Mutation_p.R534H|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.R414H|ABCG1_ENST00000343687.3_Missense_Mutation_p.R425H|ABCG1_ENST00000398437.1_Missense_Mutation_p.R572H	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	426	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)	ACACACCTGCGCATCACCTCG	0.597																																							0											0													150	109	123					21																	43710176		2203	4300	6503	SO:0001583	missense	0			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.1277G>A	21.37:g.43710176G>A	ENSP00000354995:p.Arg426His		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.R572H	ENST00000361802.2	37	c.1715	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991188	0.93106	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.7	4.7	0.59300	ABC-2 type transporter (1);	0.065617	0.64402	N	0.000015	D	0.86331	0.5907	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.993;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.998;0.924;1.0;0.997;0.997;0.994	D	0.87056	0.2150	9	.	.	.	-31.7011	18.0024	0.89201	0.0:0.0:1.0:0.0	.	437;425;426;414;411;416	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	H	416;411;414;426;425;572;534	ENSP00000381475:R416H;ENSP00000291524:R411H;ENSP00000381467:R414H;ENSP00000354995:R426H;ENSP00000339744:R425H;ENSP00000381464:R572H;ENSP00000343820:R534H	.	R	+	2	0	ABCG1	42583245	1.000000	0.71417	0.996000	0.52242	0.819000	0.46315	9.390000	0.97246	2.329000	0.79093	0.563000	0.77884	CGC	0	pfam_ABC_2_trans,tigrfam_Pigment_permease		0.597	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	protein_coding	OTTHUMT00000195318.2	70	142	1.41	0.70	1	1	G	NM_207174	0	0		43710176	1	no_errors	ENST00000398437	ensembl	human	known	74_37	missense	22	111	31.25	18.98	10	26	SNP	1	A	A	43710176	G	A	43710176	3	1	97	1	0	0	0	0	1	0	0	0	68	1087	38	1	1487	1	ABCG1	21	43710176	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2263182	43710176	4419719	686	1885											
PDE9A	5152	genome.wustl.edu	37	chr21	44163955	44163955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgagggaggagctggCggccagaagcagcaggtagg	12	3	20	6	1	0	3	0	1	0	2	0	6	0	5	1	6	3	4	1	6	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:44163955C>T	ENST00000291539.6	+	8	698	c.638C>T	c.(637-639)gCg>gTg	p.A213V	PDE9A_ENST00000380328.2_Missense_Mutation_p.A160V|PDE9A_ENST00000349112.3_Missense_Mutation_p.A85V|PDE9A_ENST00000398229.3_Missense_Mutation_p.A79V|PDE9A_ENST00000398234.3_Missense_Mutation_p.A112V|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.A127V|PDE9A_ENST00000398225.3_Missense_Mutation_p.A172V|PDE9A_ENST00000398227.3_Missense_Mutation_p.A53V|PDE9A_ENST00000328862.6_Missense_Mutation_p.A187V|PDE9A_ENST00000398224.3_Missense_Mutation_p.A86V|PDE9A_ENST00000335512.4_Missense_Mutation_p.A153V|PDE9A_ENST00000335440.6_Missense_Mutation_p.A111V|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000398232.3_Missense_Mutation_p.A146V|PDE9A_ENST00000539837.1_Missense_Mutation_p.A85V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	213					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GAGGAGCTGGCGGCCAGAAGC	0.607																																							0											0													69	62	65					21																	44163955		2200	4295	6495	SO:0001583	missense	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.638C>T	21.37:g.44163955C>T	ENSP00000291539:p.Ala213Val		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.A213V	ENST00000291539.6	37	c.638	CCDS13690.1	21	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663667	0.47572	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68765	-0.33;-0.31;-0.31;-0.33;-0.35;-0.31;-0.31;-0.34;-0.33;-0.31;-0.31;-0.31;-0.31;-0.31	5.27	5.27	0.74061	.	0.263447	0.16525	U	0.210638	T	0.51176	0.1659	N	0.24115	0.695	0.46823	D	0.999217	B;P;B;B;B;P;B;B;B;B;B;P;B;B;B	0.35793	0.085;0.521;0.085;0.085;0.209;0.521;0.276;0.085;0.276;0.085;0.145;0.521;0.085;0.085;0.133	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.30646	0.016;0.041;0.021;0.021;0.095;0.118;0.04;0.021;0.024;0.027;0.016;0.068;0.062;0.016;0.029	T	0.49495	-0.8934	10	0.17832	T	0.49	.	16.6863	0.85309	0.0:1.0:0.0:0.0	.	85;146;127;112;187;172;105;153;53;79;85;111;160;86;213	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	V	153;85;213;160;146;112;127;187;111;172;79;53;85;86	ENSP00000335242:A153V;ENSP00000441899:A85V;ENSP00000291539:A213V;ENSP00000369685:A160V;ENSP00000381287:A146V;ENSP00000381289:A112V;ENSP00000381291:A127V;ENSP00000328699:A187V;ENSP00000335365:A111V;ENSP00000381281:A172V;ENSP00000381285:A79V;ENSP00000381283:A53V;ENSP00000344730:A85V;ENSP00000381280:A86V	ENSP00000291539:A213V	A	+	2	0	PDE9A	43037024	0.999000	0.42202	0.983000	0.44433	0.801000	0.45260	4.494000	0.60347	2.459000	0.83118	0.591000	0.81541	GCG	0	NULL		0.607	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	protein_coding	OTTHUMT00000195466.1	19	69	0	0.00	0	0	C		0	0		44163955	1	no_errors	ENST00000291539	ensembl	human	known	74_37	missense	15	58	25	28.05	5	23	SNP	0.998	T	T	44163955	C	T	44163955	3	4	97	1	0	0	0	0	1	0	0	0	11655	768	27	1	748	1	PDE9A	21	44163955	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	453779	44163955	3965940	687	1886											
MCM3AP	8888	genome.wustl.edu	37	chr21	47697536	47697536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtactgagggagagcacaCatggcccgaggccctcggag	9	4	17	11	2	0	2	0	1	0	1	1	5	0	3	2	5	2	2	2	5	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:47697536C>T	ENST00000397708.1	-	6	2017	c.1763G>A	c.(1762-1764)tGt>tAt	p.C588Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.C588Y			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	588					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)					GGAGAGCACACATGGCCCGAG	0.557																																							0											0													146	125	132					21																	47697536		2203	4300	6503	SO:0001583	missense	0			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.1763G>A	21.37:g.47697536C>T	ENSP00000380820:p.Cys588Tyr		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.C588Y	ENST00000397708.1	37	c.1763	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613789	0.28712	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03358	3.96;3.96	5.54	3.66	0.41972	.	0.518346	0.23083	N	0.052128	T	0.06050	0.0157	L	0.44542	1.39	0.09310	N	1	P	0.49696	0.927	P	0.46275	0.51	T	0.23332	-1.0191	10	0.44086	T	0.13	-6.6161	13.2078	0.59807	0.0:0.4788:0.5212:0.0	.	588	O60318	MCM3A_HUMAN	Y	588	ENSP00000380820:C588Y;ENSP00000291688:C588Y	ENSP00000291688:C588Y	C	-	2	0	MCM3AP	46521964	0.053000	0.20554	0.390000	0.26220	0.008000	0.06430	2.483000	0.45233	1.320000	0.45209	0.655000	0.94253	TGT	0	NULL		0.557	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	protein_coding	OTTHUMT00000207254.1	41	60	0	0.00	0	0	C	NM_003906	0	0		47697536	-1	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	26	56	33.33	24.32	13	18	SNP	0.018	T	T	47697536	C	T	47697536	3	4	97	1	0	0	0	0	1	0	0	0	9388	478	17	3	4275	3	MCM3AP	21	47697536	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3533581	47697536	432359	688	1887											
GNAZ	2781	genome.wustl.edu	37	chr22	23437978	23437978	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagccagcggcaacgccgCgaaatcaagctgctcctgct	10	5	12	14	4	1	1	1	0	0	1	2	3	2	1	3	1	6	4	3	1	3	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:23437978C>T	ENST00000248996.4	+	2	762	c.96C>T	c.(94-96)cgC>cgT	p.R32R	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	32					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)		GGCAACGCCGCGAAATCAAGC	0.597																																							0											0													69	72	71					22																	23437978		2203	4300	6503	SO:0001819	synonymous_variant	0				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.96C>T	22.37:g.23437978C>T			B2R6C1|Q4QRJ6	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.R32	ENST00000248996.4	37	c.96	CCDS13804.1	22																																																																																			0	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su		0.597	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAZ	protein_coding	OTTHUMT00000319073.1	33	25	0	0.00	0	0	C	NM_002073	0	0		23437978	1	no_errors	ENST00000248996	ensembl	human	known	74_37	silent	28	31	26.32	32.61	10	15	SNP	0.004	T	T	23437978	C	T	23437978	2	4	97	1	0	0	0	0	0	0	0	1	6514	755	27	1		1	GNAZ	22	23437978	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09		23437978	27866588	689	1888											
MORC2	22880	genome.wustl.edu	37	chr22	31328601	31328601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtgtcaggctcaatgCggaggcattcggaagtggag	9	8	17	7	2	2	0	2	0	0	0	3	3	2	3	0	6	1	2	0	6	2	1	rs202243108		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:31328601C>T	ENST00000397641.3	-	23	3086	c.2678G>A	c.(2677-2679)cGc>cAc	p.R893H	MORC2_ENST00000215862.4_Missense_Mutation_p.R831H|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	893						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						AGGCTCAATGCGGAGGCATTC	0.607													C|||	1	0.000199681	0	0	5008	,	,		19443	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0													120	93	102					22																	31328601		2203	4300	6503	SO:0001583	missense	0			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.2678G>A	22.37:g.31328601C>T	ENSP00000380763:p.Arg893His		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.R893H	ENST00000397641.3	37	c.2678		22	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.666	1.145452	0.21288	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.12361	2.7;2.69	5.95	0.984	0.19773	.	0.466272	0.24245	N	0.040222	T	0.11495	0.0280	L	0.36672	1.1	0.24535	N	0.994097	P	0.49358	0.923	B	0.37346	0.247	T	0.15723	-1.0427	10	0.44086	T	0.13	.	18.4457	0.90682	0.0:0.5057:0.4943:0.0	.	893	Q9Y6X9	MORC2_HUMAN	H	893;831	ENSP00000380763:R893H;ENSP00000215862:R831H	ENSP00000215862:R831H	R	-	2	0	MORC2	29658601	0.996000	0.38824	0.318000	0.25279	0.039000	0.13416	1.518000	0.35877	0.351000	0.24027	0.655000	0.94253	CGC	0	NULL		0.607	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	protein_coding	OTTHUMT00000321710.2	58	123	0	0.00	0	0	C	NM_014941	rs202243108	C->T		31328601	-1	no_errors	ENST00000397641	ensembl	human	known	74_37	missense	24	105	28.57	31.82	10	49	SNP	0.363	T	T	31328601	C	T	31328601	3	4	97	1	0	0	0	0	1	0	0	0	9702	768	27	1	436	1	MORC2	22	31328601	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7890623	31328601	19975965	690	1889											
TIMP3	7078	genome.wustl.edu	37	chr22	33253242	33253242	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgcccacagatgtacCgaggcttcaccaagatgccc	9	9	8	15	1	1	2	1	0	0	2	1	3	1	2	5	1	3	2	5	1	2	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:33253242C>T	ENST00000266085.6	+	3	512	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	71	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						ACAGATGTACCGAGGCTTCAC	0.498																																							0											0													132	109	117					22																	33253242		2203	4300	6503	SO:0001587	stop_gained	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.211C>T	22.37:g.33253242C>T	ENSP00000266085:p.Arg71*		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Nonsense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.R71*	ENST00000266085.6	37	c.211	CCDS13911.1	22	.	.	.	.	.	.	.	.	.	.	C	38	7.103878	0.98066	.	.	ENSG00000100234	ENST00000266085;ENST00000538671;ENST00000382049	.	.	.	5.62	4.52	0.55395	.	0.058891	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.6311	0.76908	0.1843:0.8157:0.0:0.0	.	.	.	.	X	71;5;71	.	ENSP00000266085:R71X	R	+	1	2	TIMP3	31583242	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.232000	0.51302	2.637000	0.89404	0.561000	0.74099	CGA	0	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain		0.498	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	protein_coding	OTTHUMT00000075672.2	64	220	0	0.00	0	0	C	NM_000362	0	0		33253242	1	no_errors	ENST00000266085	ensembl	human	known	74_37	nonsense	27	181	27.03	28.35	10	72	SNP	1	T	T	33253242	C	T	33253242	4	4	97	1	0	0	0	0	0	1	0	0	15916	644	23	2	221	2	TIMP3	22	33253242	Nonsense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1924641	33253242	18051324	691	1890											
MPST	4357	genome.wustl.edu	37	chr22	37420809	37420809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtggactcccgaGccactggcaggttccgcggc	5	7	15	14	3	0	0	0	0	0	0	3	2	3	1	4	6	1	2	4	6	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:37420809G>A	ENST00000397225.2	+	2	1468	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	MPST_ENST00000429360.2_Missense_Mutation_p.A185T|MPST_ENST00000401419.3_Missense_Mutation_p.A185T|MPST_ENST00000404393.1_Missense_Mutation_p.A185T|MPST_ENST00000341116.3_Missense_Mutation_p.A185T|MPST_ENST00000404802.3_Missense_Mutation_p.A185T|MPST_ENST00000397129.1_Missense_Mutation_p.A205T			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	185	Rhodanese 2. {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						GGACTCCCGAGCCACTGGCAG	0.692																																							0											0													11	14	13					22																	37420809		1986	3942	5928	SO:0001583	missense	0			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.553G>A	22.37:g.37420809G>A	ENSP00000380402:p.Ala185Thr		A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.A205T	ENST00000397225.2	37	c.613	CCDS13939.1	22	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519276	0.44866	.	.	ENSG00000128309	ENST00000401419;ENST00000397129;ENST00000404802;ENST00000341116;ENST00000429360;ENST00000404393;ENST00000397225;ENST00000446076	T;T;T;T;T;T;T	0.46451	1.85;1.85;1.85;1.85;1.85;0.87;1.85	5.77	3.65	0.41850	Rhodanese-like (5);	0.335552	0.35262	N	0.003327	T	0.39627	0.1085	L	0.45422	1.42	0.09310	N	1	B;B;P;B;P	0.50943	0.402;0.402;0.906;0.402;0.94	B;B;B;B;B	0.43478	0.149;0.149;0.151;0.149;0.421	T	0.31752	-0.9932	10	0.72032	D	0.01	-13.2695	15.1849	0.72993	0.0:0.0:0.7429:0.2571	.	185;185;185;185;205	Q6FHN9;B3KP52;B1AH49;P25325;Q59HD5	.;.;.;THTM_HUMAN;.	T	185;205;185;185;185;185;185;185	ENSP00000384812:A185T;ENSP00000380318:A205T;ENSP00000383950:A185T;ENSP00000342333:A185T;ENSP00000411719:A185T;ENSP00000385062:A185T;ENSP00000380402:A185T	ENSP00000342333:A185T	A	+	1	0	MPST	35750755	0.001000	0.12720	0.092000	0.20876	0.278000	0.26855	0.390000	0.20768	0.760000	0.33108	0.561000	0.74099	GCC	0	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.692	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MPST	protein_coding	OTTHUMT00000318832.1	51	89	0	0.00	0	0	G	NM_001013440	0	0		37420809	1	no_errors	ENST00000397129	ensembl	human	known	74_37	missense	38	45	15.56	31.34	7	21	SNP	0.025	A	A	37420809	G	A	37420809	3	1	97	1	0	0	0	0	1	0	0	0	9744	971	34	3	619	3	MPST	22	37420809	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	4167567	37420809	13883757	692	1891											
GGA1	26088	genome.wustl.edu	37	chr22	38025516	38025516	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagcctggatggtaccGgatggaacagcttccaggta	10	7	13	11	1	0	0	0	0	0	0	1	3	1	3	4	5	4	3	4	5	4	3	rs377214761		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:38025516G>T	ENST00000343632.4	+	12	1527	c.1141G>T	c.(1141-1143)Gga>Tga	p.G381*	GGA1_ENST00000381756.5_Nonsense_Mutation_p.G398*|GGA1_ENST00000325180.8_Nonsense_Mutation_p.G294*|GGA1_ENST00000337437.4_Nonsense_Mutation_p.G348*|GGA1_ENST00000406772.1_Nonsense_Mutation_p.G308*	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	381	Unstructured hinge.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGATGGTACCGGATGGAACAG	0.612																																							0											0													70	56	61					22																	38025516		2203	4300	6503	SO:0001587	stop_gained	0			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1141G>T	22.37:g.38025516G>T	ENSP00000341344:p.Gly381*		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Nonsense_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.G381*	ENST00000343632.4	37	c.1141	CCDS13951.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.053725	0.97241	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000406772	.	.	.	5.11	5.11	0.69529	.	0.068153	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-13.8835	16.7009	0.85349	0.0:0.0:1.0:0.0	.	.	.	.	X	381;398;294;348;308	.	ENSP00000321288:G294X	G	+	1	0	GGA1	36355462	1.000000	0.71417	0.787000	0.31911	0.830000	0.47004	4.718000	0.61930	2.359000	0.80004	0.407000	0.27541	GGA	0	NULL		0.612	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	protein_coding	OTTHUMT00000075873.3	35	188	0	0.00	0	0	G	NM_013365	0	0		38025516	1	no_errors	ENST00000343632	ensembl	human	known	74_37	nonsense	25	147	13.79	28.16	4	58	SNP	0.921	T	T	38025516	G	T	38025516	4	4	97	1	0	0	0	0	0	1	0	0	6352	1117	39	5	1253	5	GGA1	22	38025516	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	604707	38025516	13279050	693	1892											
TRIOBP	11078	genome.wustl.edu	37	chr22	38121513	38121513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcctcccataacccaGgccaccagagcacctcccga	9	6	5	21	1	1	1	0	0	1	1	4	2	4	1	8	1	2	1	8	1	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:38121513G>A	ENST00000406386.3	+	7	3205	c.2950G>A	c.(2950-2952)Ggc>Agc	p.G984S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	984					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)					CCATAACCCAGGCCACCAGAG	0.647																																							0											0													132	151	145					22																	38121513		2046	4192	6238	SO:0001583	missense	0			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.2950G>A	22.37:g.38121513G>A	ENSP00000384312:p.Gly984Ser		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.G984S	ENST00000406386.3	37	c.2950	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139292	0.56936	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20881	2.04	4.94	1.44	0.22558	.	.	.	.	.	T	0.15132	0.0365	L	0.32530	0.975	0.20638	N	0.999878	B	0.27997	0.197	B	0.28638	0.092	T	0.25572	-1.0128	9	0.72032	D	0.01	.	5.9195	0.19073	0.1859:0.1583:0.6558:0.0	.	984	Q9H2D6	TARA_HUMAN	S	984	ENSP00000384312:G984S	ENSP00000384312:G984S	G	+	1	0	TRIOBP	36451459	0.424000	0.25490	0.207000	0.23584	0.806000	0.45545	0.969000	0.29370	0.610000	0.30035	0.558000	0.71614	GGC	0	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	23	186	0	0.00	0	0	G		0	0		38121513	1	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	14	131	39.13	16.98	9	27	SNP	0.161	A	A	38121513	G	A	38121513	3	1	97	1	0	0	0	0	1	0	0	0	16550	1000	35	3	2968	3	TRIOBP	22	38121513	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	95997	38121513	13183053	694	1893											
ENTHD1	150350	genome.wustl.edu	37	chr22	40257914	40257914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatatagagtgggaggtacGctgtctagtccgacatgcca	11	9	12	9	2	1	1	0	0	1	1	2	3	2	2	2	2	2	2	2	2	5	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:40257914G>A	ENST00000325157.6	-	3	698	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	150										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGGGAGGTACGCTGTCTAGTC	0.443																																							0											0													81	74	77					22																	40257914		2203	4300	6503	SO:0001583	missense	0			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.448C>T	22.37:g.40257914G>A	ENSP00000317431:p.Arg150Cys		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.R150C	ENST00000325157.6	37	c.448	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577433	0.45902	.	.	ENSG00000176177	ENST00000325157	T	0.57273	0.41	6.17	5.16	0.70880	ENTH/VHS (1);	0.000000	0.64402	D	0.000004	T	0.68851	0.3046	M	0.66939	2.045	0.50313	D	0.999866	D	0.89917	1.0	D	0.91635	0.999	T	0.72070	-0.4401	10	0.87932	D	0	-14.2028	11.2724	0.49147	0.0827:0.0:0.9173:0.0	.	150	Q8IYW4	ENTD1_HUMAN	C	150	ENSP00000317431:R150C	ENSP00000317431:R150C	R	-	1	0	ENTHD1	38587860	0.953000	0.32496	0.826000	0.32828	0.152000	0.21847	3.476000	0.53143	1.620000	0.50308	0.655000	0.94253	CGT	0	NULL		0.443	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	protein_coding	OTTHUMT00000321302.1	89	208	0	0.00	0	0	G	NM_152512	0	0		40257914	-1	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	70	187	23.91	29.32	22	78	SNP	0.759	A	A	40257914	G	A	40257914	3	1	97	1	0	0	0	0	1	0	0	0	5137	1087	38	1	1395	1	ENTHD1	22	40257914	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2136401	40257914	11046652	695	1894											
SLC25A17	10478	genome.wustl.edu	37	chr22	41188562	41188562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaccagatcttttccagTggtagaatgttgacctttga	11	14	8	8	0	1	4	0	2	1	2	2	4	2	4	3	1	2	2	3	1	4	6	rs113893475		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:41188562T>C	ENST00000435456.2	-	4	434	c.301A>G	c.(301-303)Act>Gct	p.T101A	SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_Missense_Mutation_p.T64A	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	101	Necessary for targeting to peroxisomes and interaction with PEX19.				ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						tcttttccagtggtagaatgt	0.383																																							0											0													63	62	63					22																	41188562		2203	4300	6503	SO:0001583	missense	0			Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"Solute carriers"	10987	protein-coding gene	gene with protein product	"peroxisomal membrane protein (34kD)"	606795	"solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.301A>G	22.37:g.41188562T>C	ENSP00000390722:p.Thr101Ala		A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.T101A	ENST00000435456.2	37	c.301	CCDS14005.1	22	.	.	.	.	.	.	.	.	.	.	T	6.457	0.452530	0.12283	.	.	ENSG00000100372	ENST00000435456;ENST00000544408;ENST00000434185	T;T;T	0.78246	-1.16;-1.16;0.7	1.83	1.83	0.25207	Mitochondrial carrier domain (2);	0.112351	0.64402	D	0.000010	T	0.47581	0.1453	N	0.04260	-0.245	0.45025	D	0.998048	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.006	T	0.32640	-0.9899	10	0.07482	T	0.82	-24.6184	5.7627	0.18209	0.0:0.0:0.0:1.0	.	64;101	B4DU97;O43808	.;PM34_HUMAN	A	101;64;84	ENSP00000390722:T101A;ENSP00000438355:T64A;ENSP00000404200:T84A	ENSP00000394539:T101A	T	-	1	0	SLC25A17	39518508	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.976000	0.40579	1.108000	0.41662	0.327000	0.21459	ACT	0	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.383	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A17	protein_coding	OTTHUMT00000321487.1	120	296	0	0.00	0	0	T	NM_006358	rs113893475	T->C		41188562	-1	no_errors	ENST00000435456	ensembl	human	known	74_37	missense	55	235	28.57	32.76	22	115	SNP	1	C	C	41188562	T	C	41188562	3	2	97	1	0	0	0	0	1	0	0	0	14479	1696	59	3	646	3	SLC25A17	22	41188562	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	930648	41188562	10116004	696	1895											
EP300	2033	genome.wustl.edu	37	chr22	41564729	41564729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcaattgtataggtttGtggacagtggagagatggca	11	12	13	5	0	1	1	1	0	1	1	2	4	1	3	0	4	0	3	0	4	3	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:41564729G>A	ENST00000263253.7	+	25	5249	c.4030G>A	c.(4030-4032)Gtg>Atg	p.V1344M	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1344	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				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						GTATAGGTTTGTGGACAGTGG	0.443			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																														0		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													153	137	142					22																	41564729		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	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.4030G>A	22.37:g.41564729G>A	ENSP00000263253:p.Val1344Met		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.V1344M	ENST00000263253.7	37	c.4030	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459432	0.84317	.	.	ENSG00000100393	ENST00000263253	D	0.93488	-3.23	5.95	5.95	0.96441	.	0.000000	0.43579	D	0.000545	D	0.97331	0.9127	M	0.87900	2.915	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97268	0.9909	10	0.72032	D	0.01	-8.4632	20.3747	0.98911	0.0:0.0:1.0:0.0	.	1344	Q09472	EP300_HUMAN	M	1344	ENSP00000263253:V1344M	ENSP00000263253:V1344M	V	+	1	0	EP300	39894675	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GTG	0	pfam_Histone_H3-K56_AcTrfase_RTT109		0.443	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	protein_coding	OTTHUMT00000320600.1	92	289	0	0.68	0	2	G	NM_001429	0	0		41564729	1	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	46	213	24.19	28.67	15	86	SNP	1	A	A	41564729	G	A	41564729	3	1	97	1	0	0	0	0	1	0	0	0	5148	1377	48	3	4128	3	EP300	22	41564729	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	376167	41564729	9739837	697	1896											
SEPT3	55964	genome.wustl.edu	37	chr22	42383764	42383764	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctctcccacaggacactcGtatgtaccaaccctacccct	10	9	4	18	1	1	0	0	0	1	0	4	1	2	1	5	1	3	2	5	1	4	3	rs574717482		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:42383764G>A	ENST00000396426.3	+	5	806		c.e5+1		SEPT3_ENST00000396425.3_Splice_Site|SEPT3_ENST00000406029.1_Splice_Site|SEPT3_ENST00000328414.8_Splice_Site|SEPT3_ENST00000291236.11_Splice_Site	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3						cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CAGGACACTCGTATGTACCAA	0.522													G|||	1	0.000199681	0	0	5008	,	,		22814	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0													159	109	126					22																	42383764		2203	4300	6503	SO:0001630	splice_region_variant	0			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"Septins"	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.551+1G>A	22.37:g.42383764G>A			B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Splice_Site	SNP	0	e5+1	ENST00000396426.3	37	c.551+1	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658490	0.88154	.	.	ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7047	0.91633	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEPT3	40713710	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.787000	0.99055	2.504000	0.84457	0.563000	0.77884	.	0	0		0.522	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	protein_coding	OTTHUMT00000322051.1	44	202	0	0.00	0	0	G	NM_145734	rs574717482	G->A	Intron	42383764	1	no_errors	ENST00000396426	ensembl	human	known	74_37	splice_site	37	182	13.95	30.57	6	81	SNP	1	A	A	42383764	G	A	42383764	5	1	97	1	0	0	0	0	0	0	1	0	14065	1159	40	1	570	1	SEPT3	22	42383764	Splice_Site	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	819035	42383764	8920802	698	1897											
PARVB	29780	genome.wustl.edu	37	chr22	44532343	44532343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattttggggttttcagaaaCgggaaggcctgctgcattcc	8	13	12	8	1	1	1	1	0	0	1	2	2	2	2	2	4	3	3	2	4	3	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:44532343C>T	ENST00000338758.7	+	7	700	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	PARVB_ENST00000406477.3_Missense_Mutation_p.R246W|PARVB_ENST00000404989.1_Missense_Mutation_p.R176W	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	213					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)				TTTTCAGAAACGGGAAGGCCT	0.552																																							0											0													89	75	79					22																	44532343		2203	4300	6503	SO:0001583	missense	0			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.637C>T	22.37:g.44532343C>T	ENSP00000342492:p.Arg213Trp		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R246W	ENST00000338758.7	37	c.736	CCDS14056.1	22	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339592	0.81911	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.33438	1.41;1.44;1.45	4.63	4.63	0.57726	Calponin homology domain (1);	0.133715	0.50627	D	0.000110	T	0.56187	0.1968	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.75484	0.947;0.959;0.945;0.986	T	0.62623	-0.6815	10	0.87932	D	0	-4.1617	16.0834	0.81020	0.0:1.0:0.0:0.0	.	213;176;213;246	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	W	246;213;176	ENSP00000384515:R246W;ENSP00000342492:R213W;ENSP00000384353:R176W	ENSP00000342492:R213W	R	+	1	2	PARVB	42863676	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.363000	0.34159	2.137000	0.66172	0.655000	0.94253	CGG	0	superfamily_CH-domain		0.552	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	protein_coding	OTTHUMT00000319518.2	40	155	0	0.00	0	0	C	NM_001003828	0	0		44532343	1	no_errors	ENST00000406477	ensembl	human	known	74_37	missense	16	135	15.79	29.69	3	57	SNP	1	T	T	44532343	C	T	44532343	3	4	97	1	0	0	0	0	1	0	0	0	11469	527	19	1	882	1	PARVB	22	44532343	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2148579	44532343	6772223	699	1898											
CELSR1	9620	genome.wustl.edu	37	chr22	46835085	46835085	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcgggacgcacactcaCgtgagggagatggtgaagtg	9	5	18	9	5	1	3	1	2	0	1	1	5	1	4	0	4	0	1	0	4	1	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:46835085C>T	ENST00000262738.3	-	3	4406		c.e3+1			NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1						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)		CGCACACTCACGTGAGGGAGA	0.632																																							0											0													84	71	75					22																	46835085		2203	4300	6503	SO:0001630	splice_region_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4406+1G>A	22.37:g.46835085C>T			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Splice_Site	SNP	0	e3+1	ENST00000262738.3	37	c.4406+1	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758959	0.49468	.	.	ENSG00000075275	ENST00000262738	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1211	0.89572	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CELSR1	45213749	1.000000	0.71417	0.790000	0.31976	0.135000	0.20990	7.484000	0.81180	2.387000	0.81309	0.561000	0.74099	.	0	0		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	73	87	0	0.00	0	0	C	NM_014246	0	0	Intron	46835085	-1	no_errors	ENST00000262738	ensembl	human	known	74_37	splice_site	39	68	36.07	28.42	22	27	SNP	1	T	T	46835085	C	T	46835085	5	4	97	1	0	0	0	0	0	0	1	0	3221	550	19	1	4769	1	CELSR1	22	46835085	Splice_Site	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2302742	46835085	4469481	700	1899											
BRD1	23774	genome.wustl.edu	37	chr22	50191729	50191729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcctcattgtggcaaagtCcatgggatgtttaatgtgat	9	16	10	6	0	1	1	1	1	0	0	3	2	3	2	2	2	0	2	2	2	2	4			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:50191729C>A	ENST00000216267.8	-	5	2308	c.1822G>T	c.(1822-1824)Gac>Tac	p.D608Y	BRD1_ENST00000457780.2_Missense_Mutation_p.D608Y|BRD1_ENST00000404034.1_Missense_Mutation_p.D608Y|BRD1_ENST00000342989.5_Missense_Mutation_p.D203Y|BRD1_ENST00000404760.1_Missense_Mutation_p.D608Y|BRD1_ENST00000542442.1_Missense_Mutation_p.D296Y	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	608	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)		GTGGCAAAGTCCATGGGATGT	0.343																																							0											0													104	104	104					22																	50191729		2203	4300	6503	SO:0001583	missense	0			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.1822G>T	22.37:g.50191729C>A	ENSP00000216267:p.Asp608Tyr		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.D608Y	ENST00000216267.8	37	c.1822	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889083	0.72524	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.7	5.7	0.88788	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.74658	0.3745	H	0.98786	4.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85194	0.1011	10	0.72032	D	0.01	.	19.8327	0.96642	0.0:1.0:0.0:0.0	.	608;203;608;608	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	Y	608;608;608;608;296;203;68	ENSP00000216267:D608Y;ENSP00000384076:D608Y;ENSP00000385858:D608Y;ENSP00000410042:D608Y;ENSP00000437514:D296Y;ENSP00000345886:D203Y	ENSP00000216267:D608Y	D	-	1	0	BRD1	48577733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.549000	0.82163	2.695000	0.91970	0.655000	0.94253	GAC	0	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain		0.343	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	protein_coding	OTTHUMT00000317402.1	104	313	0	0.00	0	0	C	NM_014577	0	0		50191729	-1	no_errors	ENST00000216267	ensembl	human	known	74_37	missense	32	272	27.27	22.95	12	81	SNP	1	A	A	50191729	C	A	50191729	3	1	97	1	0	0	0	0	1	0	0	0	1501	855	30	5	1386	5	BRD1	22	50191729	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	3356644	50191729	1112837	701	1900											
SHANK3	85358	genome.wustl.edu	37	chr22	51159900	51159900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcctcatcgttgtgcaCgccaccagcaacgggcagga	8	6	13	14	3	1	0	1	0	0	0	2	1	1	1	3	3	3	5	3	3	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:51159900C>T	ENST00000414786.2	+	21	3824	c.3597C>T	c.(3595-3597)caC>caT	p.H1199H	SHANK3_ENST00000262795.3_Silent_p.H1229H|SHANK3_ENST00000445220.2_Silent_p.H1215H			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1213					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)		TCGTTGTGCACGCCACCAGCA	0.701																																							0											0													18	22	20					22																	51159900		2032	4052	6084	SO:0001819	synonymous_variant	0			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.3597C>T	22.37:g.51159900C>T			D7UT47|Q8TET3	Silent	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.H1229	ENST00000414786.2	37	c.3687		22																																																																																			0	NULL		0.701	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	protein_coding	OTTHUMT00000316674.2	35	23	0	0.00	0	0	C	NM_001080420	0	0		51159900	1	no_errors	ENST00000262795	ensembl	human	known	74_37	silent	17	26	19.05	25.71	4	9	SNP	0.977	T	T	51159900	C	T	51159900	2	4	97	1	0	0	0	0	0	0	0	1	14266	535	19	1		1	SHANK3	22	51159900	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	968171	51159900	144666	702	1901											
ARSH	347527	genome.wustl.edu	37	chrX	2936599	2936600	+	Frame_Shift_Ins	INS	-	-	T																															aaagggaaccttttctcctcINStttttttccttcctgcacgt																								rs368634386		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:2936599_2936600insT	ENST00000381130.2	+	5	789_790	c.789_790insT	c.(790-792)tttfs	p.F264fs		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	264					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)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				CTTTTCTCCTCTTTTTTTCCTT	0.391																																							0											0																																										SO:0001589	frameshift_variant	0			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.796dupT	X.37:g.2936606_2936606dupT	ENSP00000370522:p.Phe264fs			Frame_Shift_Ins	INS	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S265fs	ENST00000381130.2	37	c.789_790	CCDS35198.1	X																																																																																			0	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.391	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSH	protein_coding	OTTHUMT00000356489.1	155	266	0	0.00	0	0	0	NM_001011719	rs368634386	C->CT		2936600	1	no_errors	ENST00000381130	ensembl	human	known	74_37	frame_shift_ins	61	255	26.51	27.35	22	96	INS	0.125:0.107	T	T	2936600	-	T	2936599	7	5	97	1	0	1	1	0	0	0	0	0	993	900	32	0	807	0	ARSH	23	2936599	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09		2936599	152333961	703	1902											
KAL1	3730	genome.wustl.edu	37	chrX	8522068	8522068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctccgacttccagcgggcGagtgggtcgtcgtctttgaa	6	10	14	11	5	1	1	0	1	1	0	5	3	3	1	2	2	2	1	2	2	1	2	rs371623420		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:8522068G>A	ENST00000262648.3	-	9	1428	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	427	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TCCAGCGGGCGAGTGGGTCGT	0.413																																							0											0								G	CYS/ARG	0,3835		0,0,0,1632,571	123	112	116		1279	4.4	0.2	X		116	1,6727		0,0,1,2428,1871	no	missense	KAL1	NM_000216.2	180	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging	427/681	8522068	1,10562	2203	4300	6503	SO:0001583	missense	0				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1279C>T	X.37:g.8522068G>A	ENSP00000262648:p.Arg427Cys		B2RPF8	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core	p.R427C	ENST00000262648.3	37	c.1279	CCDS14130.1	X	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806140	0.70682	0.0	1.49E-4	ENSG00000011201	ENST00000262648	T	0.75589	-0.95	4.37	4.37	0.52481	Fibronectin, type III (2);	0.117374	0.64402	D	0.000016	T	0.79764	0.4502	M	0.63428	1.95	0.46901	D	0.99924	D	0.69078	0.997	P	0.55112	0.769	T	0.81854	-0.0741	10	0.56958	D	0.05	-16.543	13.6161	0.62108	0.0:0.0:1.0:0.0	.	427	P23352	KALM_HUMAN	C	427	ENSP00000262648:R427C	ENSP00000262648:R427C	R	-	1	0	KAL1	8482068	1.000000	0.71417	0.179000	0.23059	0.896000	0.52359	3.225000	0.51246	1.774000	0.52232	0.544000	0.68410	CGC	0	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAL1	protein_coding	OTTHUMT00000055692.1	71	209	0	0.00	0	0	G	NM_000216	rs371623420	G->A		8522068	-1	no_errors	ENST00000262648	ensembl	human	known	74_37	missense	60	159	36.17	34.02	34	82	SNP	0.898	A	A	8522068	G	A	8522068	3	1	97	1	0	0	0	0	1	0	0	0	7974	1058	37	2	787	2	KAL1	23	8522068	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	5585469	8522068	146748492	704	1903											
WWC3	55841	genome.wustl.edu	37	chrX	10062288	10062288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtaccccagcagttctgCgatgccggctcccagactga	7	8	12	14	2	1	2	0	1	1	1	2	3	2	2	4	2	4	4	4	2	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:10062288C>T	ENST00000380861.4	+	7	1015	c.624C>T	c.(622-624)tgC>tgT	p.C208C	WWC3_ENST00000454666.1_Silent_p.C208C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	208					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)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCAGTTCTGCGATGCCGGCT	0.592																																							0											0													95	86	89					X																	10062288		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.624C>T	X.37:g.10062288C>T			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	superfamily_C2_dom	p.C208	ENST00000380861.4	37	c.624	CCDS14136.1	X																																																																																			0	NULL		0.592	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	protein_coding	OTTHUMT00000055725.1	63	85	0	0.00	0	0	C	NM_015691	0	0		10062288	1	no_errors	ENST00000380861	ensembl	human	known	74_37	silent	31	77	24.39	31.86	10	36	SNP	0.726	T	T	10062288	C	T	10062288	2	4	97	1	0	0	0	0	0	0	0	1	17410	776	27	1		1	WWC3	23	10062288	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1540220	10062288	145208272	705	1904											
WWC3	55841	genome.wustl.edu	37	chrX	10104702	10104702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgacagcgacagttcaacGctgccccggaagtccccctt	9	7	10	15	3	1	1	1	1	0	0	2	3	2	2	4	1	3	2	4	1	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:10104702G>A	ENST00000380861.4	+	20	3184	c.2793G>A	c.(2791-2793)acG>acA	p.T931T	WWC3_ENST00000454666.1_Silent_p.T931T	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	931					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)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACAGTTCAACGCTGCCCCGGA	0.443																																							0											0													121	96	104					X																	10104702		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2793G>A	X.37:g.10104702G>A			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	superfamily_C2_dom	p.T931	ENST00000380861.4	37	c.2793	CCDS14136.1	X																																																																																			0	NULL		0.443	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	protein_coding	OTTHUMT00000055725.1	66	254	0	0.39	0	1	G	NM_015691	0	0		10104702	1	no_errors	ENST00000380861	ensembl	human	known	74_37	silent	53	185	30.26	25.10	23	62	SNP	0.002	A	A	10104702	G	A	10104702	2	1	97	1	0	0	0	0	0	0	0	1	17410	1074	38	1		1	WWC3	23	10104702	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	42414	10104702	145165858	706	1905											
OFD1	8481	genome.wustl.edu	37	chrX	13780494	13780494	+	Frame_Shift_Del	DEL	A	A	-																															gacaaactgaacttcaagacAaaagtgaattttcagatgtg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:13780494delA	ENST00000340096.6	+	18	2746	c.2419delA	c.(2419-2421)aaafs	p.K807fs	OFD1_ENST00000380567.1_Frame_Shift_Del_p.K667fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.K767fs|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	807	Mediates the interaction with SDCCAG8.				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						ACTTCAAGACAAAAGTGAATT	0.313																																							0											0													81	75	77					X																	13780494		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2419delA	X.37:g.13780494delA	ENSP00000344314:p.Lys807fs		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.S808fs	ENST00000340096.6	37	c.2419	CCDS14157.1	X																																																																																			0	NULL		0.313	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	protein_coding	OTTHUMT00000055808.1	260	269	0	0.00	0	0	A	NM_003611	0	0		13780494	1	no_errors	ENST00000340096	ensembl	human	known	74_37	frame_shift_del	135	163	28.19	32.08	53	77	DEL	0.001	0	-	13780494	A	-	13780494	7	5	97	1	0	1	0	1	0	0	0	0	10838	131	5	0	2489	0	OFD1	23	13780494	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	3675792	13780494	141490066	707	1906											
REPS2	9185	genome.wustl.edu	37	chrX	17080625	17080625	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagtcactgccggcaaaTcaacaacctcgtgacttgaa	12	9	8	12	2	3	3	2	3	1	0	4	3	3	3	2	1	3	1	2	1	4	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:17080625T>A	ENST00000357277.3	+	9	1350	c.1179T>A	c.(1177-1179)aaT>aaA	p.N393K	REPS2_ENST00000303843.7_Missense_Mutation_p.N392K|REPS2_ENST00000380064.4_Missense_Mutation_p.N253K	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	393					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TGCCGGCAAATCAACAACCTC	0.358																																							0											0													128	109	115					X																	17080625		2203	4300	6503	SO:0001583	missense	0			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"EF-hand domain containing"	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1179T>A	X.37:g.17080625T>A	ENSP00000349824:p.Asn393Lys		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.N393K	ENST00000357277.3	37	c.1179	CCDS14180.2	X	.	.	.	.	.	.	.	.	.	.	T	12.46	1.943159	0.34283	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.29917	1.57;1.56;1.55	5.62	2.89	0.33648	.	0.382493	0.26013	N	0.026873	T	0.20740	0.0499	L	0.54323	1.7	0.27987	N	0.935807	B;B;B	0.29716	0.047;0.034;0.255	B;B;B	0.21708	0.036;0.019;0.026	T	0.29912	-0.9996	10	0.07030	T	0.85	-1.8763	7.1382	0.25541	0.0:0.6184:0.0:0.3816	.	253;392;393	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	K	393;393;392;253	ENSP00000349824:N393K;ENSP00000306033:N392K;ENSP00000369404:N253K	ENSP00000306033:N392K	N	+	3	2	REPS2	16990546	0.995000	0.38212	0.517000	0.27799	0.912000	0.54170	0.585000	0.23879	0.176000	0.19873	-0.488000	0.04728	AAT	0	NULL		0.358	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REPS2	protein_coding	OTTHUMT00000316778.1	133	251	0	0.00	0	0	T	NM_004726	0	0		17080625	1	no_errors	ENST00000357277	ensembl	human	known	74_37	missense	71	169	36.84	38.10	42	104	SNP	0.717	A	A	17080625	T	A	17080625	3	1	97	1	0	0	0	0	1	0	0	0	13229	1432	50	5	1213	5	REPS2	23	17080625	Missense_Mutation	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	3300131	17080625	138189935	708	1907											
PHEX	5251	genome.wustl.edu	37	chrX	22051242	22051242	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcacgatcctctttctagGtaagtggagtgcaggaggcc	8	9	15	9	1	2	0	0	0	2	0	3	3	3	2	2	5	1	3	2	5	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:22051242G>A	ENST00000379374.4	+	1	683		c.e1+1		PHEX_ENST00000537599.1_Splice_Site	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked						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						CTCTTTCTAGGTAAGTGGAGT	0.522																																							0											0			GRCh37	CS984057	PHEX	S							178	134	149					X																	22051242		2203	4300	6503	SO:0001630	splice_region_variant	0			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.118+1G>A	X.37:g.22051242G>A			O00678|Q13646|Q2M325|Q93032|Q99827	Splice_Site	SNP	0	e1+1	ENST00000379374.4	37	c.118+1	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833665	0.50951	.	.	ENSG00000102174	ENST00000379374;ENST00000537599	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7287	0.85430	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHEX	21961163	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	6.032000	0.70918	2.325000	0.78763	0.594000	0.82650	.	0	0		0.522	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	protein_coding	OTTHUMT00000056035.1	12	240	0	0.00	0	0	G	NM_000444	0	0	Intron	22051242	1	no_errors	ENST00000379374	ensembl	human	known	74_37	splice_site	2	172	50	31.20	2	78	SNP	1	A	A	22051242	G	A	22051242	5	1	97	1	0	0	0	0	0	0	1	0	11819	1275	44	3	121	3	PHEX	23	22051242	Splice_Site	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	4970617	22051242	133219318	709	1908											
MAGEB10	139422	genome.wustl.edu	37	chrX	27840014	27840014	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgagtgatgaaacaggCgtgcccaagactggcctgct	11	7	13	10	1	0	4	0	3	0	1	0	4	0	4	2	2	4	2	2	2	3	0	rs374712101		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:27840014C>T	ENST00000356790.2	+	3	836	c.591C>T	c.(589-591)ggC>ggT	p.G197G		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	197	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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						ATGAAACAGGCGTGCCCAAGA	0.468																																							0											0								C		1,3832		0,1,1630,571	83	68	73		591	-5.2	0	X		73	0,6728		0,0,2428,1872	no	coding-synonymous	MAGEB10	NM_182506.3		0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095		197/348	27840014	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	0				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.591C>T	X.37:g.27840014C>T			Q494Y6|Q494Y7|Q9BZ78	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.G197	ENST00000356790.2	37	c.591	CCDS35221.1	X																																																																																			0	pfam_MAGE,pfscan_MAGE		0.468	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	protein_coding	OTTHUMT00000106216.1	30	202	0	0.49	0	1	C	NM_182506	rs374712101	C->T		27840014	1	no_errors	ENST00000356790	ensembl	human	known	74_37	silent	15	134	37.5	35.27	9	73	SNP	0	T	T	27840014	C	T	27840014	2	4	97	1	0	0	0	0	0	0	0	1	9173	755	27	1		1	MAGEB10	23	27840014	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	5788772	27840014	127430546	710	1909											
NR0B1	190	genome.wustl.edu	37	chrX	30326504	30326504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgttgcccccggtctccCgccgcctggtggtgaggatc	2	9	14	16	4	1	1	0	1	1	0	4	2	1	2	5	4	1	2	5	4	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:30326504C>T	ENST00000378970.4	-	1	1211	c.977G>A	c.(976-978)cGg>cAg	p.R326Q	NR0B1_ENST00000378963.1_Missense_Mutation_p.R31Q|NR0B1_ENST00000453287.1_Missense_Mutation_p.R326Q	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	326	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)	CCCGGTCTCCCGCCGCCTGGT	0.672											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													20	15	17					X																	30326504		2199	4296	6495	SO:0001583	missense	0			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.977G>A	X.37:g.30326504C>T	ENSP00000368253:p.Arg326Gln	816	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.R326Q	ENST00000378970.4	37	c.977	CCDS14223.1	X	.	.	.	.	.	.	.	.	.	.	C	7.582	0.668946	0.14776	.	.	ENSG00000169297	ENST00000378970;ENST00000378963;ENST00000453287	D;D;D	0.98602	-5.02;-1.79;-5.02	5.07	0.0769	0.14405	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.512302	0.20970	N	0.082402	D	0.91734	0.7386	N	0.22421	0.69	0.25458	N	0.98795	B	0.33000	0.393	B	0.19946	0.027	D	0.85992	0.1489	10	0.09843	T	0.71	-3.0479	5.7231	0.17998	0.1337:0.3523:0.0:0.5141	.	326	P51843	NR0B1_HUMAN	Q	326;31;326	ENSP00000368253:R326Q;ENSP00000368246:R31Q;ENSP00000396403:R326Q	ENSP00000368246:R31Q	R	-	2	0	NR0B1	30236425	0.887000	0.30362	0.922000	0.36590	0.608000	0.37181	0.122000	0.15687	-0.339000	0.08401	-0.192000	0.12808	CGG	0	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.672	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	protein_coding	OTTHUMT00000056161.1	55	68	0	0.00	0	0	C	NM_000475	0	0		30326504	-1	no_errors	ENST00000378970	ensembl	human	known	74_37	missense	29	66	29.27	24.14	12	21	SNP	0.786	T	T	30326504	C	T	30326504	3	4	97	1	0	0	0	0	1	0	0	0	10613	652	23	2	443	2	NR0B1	23	30326504	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2486490	30326504	124944056	711	1910											
DMD	1756	genome.wustl.edu	37	chrX	32834701	32834701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacccagctcaggagaatCttttcactgttggtttgttg	7	14	11	9	1	3	1	2	0	1	1	3	3	3	2	1	3	1	4	1	3	1	5	rs398123949		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:32834701C>A	ENST00000357033.4	-	6	620	c.414G>T	c.(412-414)aaG>aaT	p.K138N	DMD_ENST00000288447.4_Missense_Mutation_p.K130N|DMD_ENST00000378677.2_Missense_Mutation_p.K134N	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	138	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)				TCAGGAGAATCTTTTCACTGT	0.393																																							0											0													170	147	155					X																	32834701		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.414G>T	X.37:g.32834701C>A	ENSP00000354923:p.Lys138Asn		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.K138N	ENST00000357033.4	37	c.414	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001670	0.93227	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.95918	-3.85;-3.85;-3.85	5.44	5.44	0.79542	Calponin homology domain (5);	0.000000	0.38778	U	0.001577	D	0.97498	0.9181	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.999;0.999;0.994;0.999	P;D;P;P;D	0.65874	0.8;0.912;0.898;0.866;0.939	D	0.98136	1.0433	10	0.72032	D	0.01	.	18.3299	0.90264	0.0:1.0:0.0:0.0	.	138;130;130;138;134	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	N	130;134;138;138;15;130	ENSP00000367948:K134N;ENSP00000354923:K138N;ENSP00000288447:K130N	ENSP00000288447:K130N	K	-	3	2	DMD	32744622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.960000	0.63673	2.269000	0.75478	0.600000	0.82982	AAG	0	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	103	225	0	0.00	0	0	C	NM_004006	0	0		32834701	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	52	237	20	27.66	13	91	SNP	1	A	A	32834701	C	A	32834701	3	1	97	1	0	0	0	0	1	0	0	0	4580	912	32	5	11182	5	DMD	23	32834701	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2508197	32834701	122435859	712	1911											
BCOR	54880	genome.wustl.edu	37	chrX	39934419	39934419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatcgatcctatgggcCgtgctcgcatccacctttgc	6	10	10	15	3	0	0	0	0	0	0	4	1	2	0	5	2	2	2	5	2	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:39934419C>T	ENST00000378444.4	-	4	408	c.180G>A	c.(178-180)acG>acA	p.T60T	BCOR_ENST00000397354.3_Silent_p.T60T|BCOR_ENST00000342274.4_Silent_p.T60T|BCOR_ENST00000378455.4_Silent_p.T60T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	60					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						TCCTATGGGCCGTGCTCGCAT	0.562			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																0		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													23	17	19					X																	39934419		2201	4295	6496	SO:0001819	synonymous_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.180G>A	X.37:g.39934419C>T			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T60	ENST00000378444.4	37	c.180	CCDS48093.1	X																																																																																			0	NULL		0.562	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	19	153	0	0.00	0	0	C	NM_017745	0	0		39934419	-1	no_errors	ENST00000378444	ensembl	human	known	74_37	silent	4	142	42.86	24.87	3	47	SNP	0.012	T	T	39934419	C	T	39934419	2	4	97	1	0	0	0	0	0	0	0	1	1386	639	23	2		2	BCOR	23	39934419	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7099718	39934419	115336141	713	1912											
MED14	9282	genome.wustl.edu	37	chrX	40572273	40572273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaattctccttcaacaCgaaacttcacccggccattt	11	12	3	15	2	4	0	3	0	1	0	5	1	4	0	3	1	2	0	3	1	3	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:40572273C>T	ENST00000324817.1	-	6	792	c.674G>A	c.(673-675)cGt>cAt	p.R225H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	225	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R225H(2)		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						TCCTTCAACACGAAACTTCAC	0.403																																							0											2	Substitution - Missense(2)	prostate(2)											95	77	83					X																	40572273		2203	4300	6503	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.674G>A	X.37:g.40572273C>T	ENSP00000323720:p.Arg225His		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.R225H	ENST00000324817.1	37	c.674	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302966	0.60195	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	N	0.01576	-0.805	0.80722	D	1	P	0.35272	0.493	B	0.32724	0.151	T	0.32241	-0.9914	9	0.35671	T	0.21	.	18.0248	0.89265	0.0:1.0:0.0:0.0	.	225	O60244	MED14_HUMAN	H	225	.	ENSP00000323720:R225H	R	-	2	0	MED14	40457217	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.397000	0.79903	2.279000	0.76181	0.538000	0.68166	CGT	0	pfam_Mediator_Med14		0.403	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	protein_coding	OTTHUMT00000060692.1	113	291	0	0.00	0	0	C	NM_004229	0	0		40572273	-1	no_errors	ENST00000324817	ensembl	human	known	74_37	missense	64	225	26.44	29.69	23	95	SNP	1	T	T	40572273	C	T	40572273	3	4	97	1	0	0	0	0	1	0	0	0	9432	536	19	1	3794	1	MED14	23	40572273	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	637854	40572273	114698287	714	1913											
TBC1D25	4943	genome.wustl.edu	37	chrX	48419277	48419277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacctggggcgcgtcctgCgccgggctagggctctcttt	3	9	14	15	4	1	0	0	0	1	0	3	0	2	0	4	4	1	2	4	4	1	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:48419277C>T	ENST00000376771.4	+	6	2322	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.R407C	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	661					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GCGCGTCCTGCGCCGGGCTAG	0.592																																							0											0													37	36	37					X																	48419277		2202	4300	6502	SO:0001583	missense	0			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1981C>T	X.37:g.48419277C>T	ENSP00000365962:p.Arg661Cys		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R661C	ENST00000376771.4	37	c.1981	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529508	0.44969	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.24723	1.84;1.84	5.33	5.33	0.75918	Rab-GAP/TBC domain (1);	0.308590	0.30260	N	0.010025	T	0.19485	0.0468	N	0.08118	0	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.997;0.993	P;P;B	0.47299	0.543;0.543;0.446	T	0.09228	-1.0684	10	0.62326	D	0.03	-18.7921	15.4149	0.74960	0.0:1.0:0.0:0.0	.	665;603;661	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	C	661;407	ENSP00000365962:R661C;ENSP00000444091:R407C	ENSP00000365962:R661C	R	+	1	0	TBC1D25	48304221	1.000000	0.71417	0.946000	0.38457	0.071000	0.16799	7.236000	0.78154	2.233000	0.73108	0.529000	0.55759	CGC	0	superfamily_Rab-GTPase-TBC_dom		0.592	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	protein_coding	OTTHUMT00000060764.2	17	65	0	0.00	0	0	C	NM_002536	0	0		48419277	1	no_errors	ENST00000376771	ensembl	human	known	74_37	missense	15	78	16.67	34.17	3	41	SNP	1	T	T	48419277	C	T	48419277	3	4	97	1	0	0	0	0	1	0	0	0	15612	768	27	1	2003	1	TBC1D25	23	48419277	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	7847004	48419277	106851283	715	1914											
GRIPAP1	56850	genome.wustl.edu	37	chrX	48840261	48840261	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagttgttccagcagtcGactattggcccgtaatgact	9	13	10	9	2	0	2	0	2	0	0	2	3	1	2	2	1	1	4	2	1	3	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:48840261G>A	ENST00000376441.1	-	15	1232	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Nonsense_Mutation_p.R347*|GRIPAP1_ENST00000376425.3_Nonsense_Mutation_p.R369*|GRIPAP1_ENST00000376444.3_Nonsense_Mutation_p.R355*	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	400						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TCCAGCAGTCGACTATTGGCC	0.502																																							0											0													203	154	171					X																	48840261		2203	4300	6503	SO:0001587	stop_gained	0			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.1198C>T	X.37:g.48840261G>A	ENSP00000365624:p.Arg400*		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.R400*	ENST00000376441.1	37	c.1198	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	-	22.4	4.286537	0.80803	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	.	.	.	4.93	4.93	0.64822	.	0.084638	0.47852	D	0.000210	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-4.0646	16.113	0.81275	0.0:0.0:1.0:0.0	.	.	.	.	X	369;355;400;369;347	.	ENSP00000365606:R347X	R	-	1	2	GRIPAP1	48725205	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	4.884000	0.63135	2.054000	0.61138	0.522000	0.50473	CGA	0	NULL		0.502	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	protein_coding	OTTHUMT00000080970.2	70	289	0	0.34	0	1	G	NM_207672	0	0		48840261	-1	no_errors	ENST00000376441	ensembl	human	known	74_37	nonsense	47	189	21.67	31.27	13	86	SNP	1	A	A	48840261	G	A	48840261	4	1	97	1	0	0	0	0	0	1	0	0	6789	1066	37	2	1429	2	GRIPAP1	23	48840261	Nonsense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	420984	48840261	106430299	716	1915											
PRAF2	11230	genome.wustl.edu	37	chrX	48931616	48931616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacaaagtcgtccagggCgcgtagcggtggcagccgca	10	4	15	12	5	0	1	0	0	0	1	2	1	1	1	2	3	3	3	2	3	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:48931616C>T	ENST00000376390.4	-	1	114	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	WDR45_ENST00000553851.1_Intron|AF196779.12_ENST00000376358.3_Intron|PRAF2_ENST00000376386.3_Missense_Mutation_p.A11T|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000465431.1_5'Flank	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	11					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						TCGTCCAGGGCGCGTAGCGGT	0.657																																							0											0													39	33	35					X																	48931616		2198	4298	6496	SO:0001583	missense	0			BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"PRA1 domain family 2"			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.31G>A	X.37:g.48931616C>T	ENSP00000365570:p.Ala11Thr		B2RD20	Missense_Mutation	SNP	pfam_Prenylated_rab_accept_PRA1	p.A11T	ENST00000376390.4	37	c.31	CCDS14317.1	X	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533300	0.45073	.	.	ENSG00000243279	ENST00000376390;ENST00000376386	T;T	0.41758	0.99;0.99	3.92	3.05	0.35203	.	0.241239	0.32002	N	0.006736	T	0.15349	0.0370	N	0.03608	-0.345	0.80722	D	1	P	0.39535	0.677	B	0.31614	0.133	T	0.05937	-1.0855	10	0.25106	T	0.35	-17.4007	8.6902	0.34262	0.0:0.8848:0.0:0.1152	.	11	O60831	PRAF2_HUMAN	T	11	ENSP00000365570:A11T;ENSP00000365566:A11T	ENSP00000365566:A11T	A	-	1	0	PRAF2	48818560	0.001000	0.12720	1.000000	0.80357	0.890000	0.51754	-0.407000	0.07178	1.002000	0.39104	-0.208000	0.12717	GCC	0	pfam_Prenylated_rab_accept_PRA1		0.657	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAF2	protein_coding	OTTHUMT00000083415.2	46	40	0	0.00	0	0	C	NM_007213	0	0		48931616	-1	no_errors	ENST00000376390	ensembl	human	known	74_37	missense	21	22	25	31.25	7	10	SNP	0.951	T	T	48931616	C	T	48931616	3	4	97	1	0	0	0	0	1	0	0	0	12422	768	27	1	517	1	PRAF2	23	48931616	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	91355	48931616	106338944	717	1916											
CCNB3	85417	genome.wustl.edu	37	chrX	50055546	50055546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctaagcagataaccccaCgggaagatattgatgaggac	14	9	10	8	1	1	4	0	2	1	2	1	6	1	6	2	2	2	1	2	2	4	5			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:50055546C>T	ENST00000376042.1	+	7	3635	c.3337C>T	c.(3337-3339)Cgg>Tgg	p.R1113W	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.R1113W			Q8WWL7	CCNB3_HUMAN	cyclin B3	1113					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)					GATAACCCCACGGGAAGATAT	0.388																																							0											0													160	145	150					X																	50055546		2203	4300	6503	SO:0001583	missense	0			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.3337C>T	X.37:g.50055546C>T	ENSP00000365210:p.Arg1113Trp		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	p.R1113W	ENST00000376042.1	37	c.3337	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	C	5.325	0.245293	0.10077	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.18338	2.22;2.22	4.72	-3.7	0.04437	.	11.198600	0.00166	N	0.000007	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.20940	-1.0260	9	.	.	.	.	4.277	0.10813	0.0917:0.4702:0.1678:0.2703	.	1113;1113	A8K8T9;Q8WWL7	.;CCNB3_HUMAN	W	1113	ENSP00000365210:R1113W;ENSP00000276014:R1113W	.	R	+	1	2	CCNB3	50072286	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.379000	0.07437	-1.193000	0.02688	-1.747000	0.00681	CGG	0	NULL		0.388	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	protein_coding	OTTHUMT00000056558.1	72	220	0	0.45	0	1	C		0	0		50055546	1	no_errors	ENST00000276014	ensembl	human	known	74_37	missense	24	185	26.47	30.45	9	81	SNP	0	T	T	50055546	C	T	50055546	3	4	97	1	0	0	0	0	1	0	0	0	2914	527	19	1	3355	1	CCNB3	23	50055546	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1123930	50055546	105215014	718	1917											
SHROOM4	57477	genome.wustl.edu	37	chrX	50438919	50438919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcttctgggacaaagctgCcttgcctccatcttcaatct	8	13	6	14	0	5	0	1	0	4	0	6	1	6	1	3	1	3	1	3	1	2	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:50438919C>T	ENST00000289292.7	-	2	419	c.136G>A	c.(136-138)Gca>Aca	p.A46T	SHROOM4_ENST00000376020.2_Missense_Mutation_p.A46T			Q9ULL8	SHRM4_HUMAN	shroom family member 4	46	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)					GACAAAGCTGCCTTGCCTCCA	0.468																																							0											0													91	77	82					X																	50438919		2203	4300	6503	SO:0001583	missense	0			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.136G>A	X.37:g.50438919C>T	ENSP00000289292:p.Ala46Thr		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A46T	ENST00000289292.7	37	c.136	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829856	0.71258	.	.	ENSG00000158352	ENST00000289292;ENST00000376020	T;T	0.37752	1.18;1.18	5.4	5.4	0.78164	PDZ/DHR/GLGF (4);	0.183522	0.32640	N	0.005824	T	0.73791	0.3632	H	0.97465	4.01	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.83854	0.0264	10	0.87932	D	0	.	15.7052	0.77573	0.0:1.0:0.0:0.0	.	46	Q9ULL8	SHRM4_HUMAN	T	46	ENSP00000289292:A46T;ENSP00000365188:A46T	ENSP00000289292:A46T	A	-	1	0	SHROOM4	50455659	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.035000	0.76517	2.394000	0.81467	0.544000	0.68410	GCA	0	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.468	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	24	172	0	0.00	0	0	C	NM_020717	0	0		50438919	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	missense	12	107	29.41	29.61	5	45	SNP	1	T	T	50438919	C	T	50438919	3	4	97	1	0	0	0	0	1	0	0	0	14296	739	26	3	4377	3	SHROOM4	23	50438919	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	383373	50438919	104831641	719	1918											
FAM155B	27112	genome.wustl.edu	37	chrX	68725182	68725182	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgccgcgctgactatctgCtgctgctgctgctgctgggc	2	10	14	15	3	1	1	0	1	1	0	1	1	1	1	2	1	6	7	2	1	1	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:68725182C>T	ENST00000252338.4	+	1	99	c.57C>T	c.(55-57)tgC>tgT	p.C19C	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	19	Poly-Cys.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TGACTATctgctgctgctgct	0.682																																							0											0													6	4	5					X																	68725182		1935	3692	5627	SO:0001819	synonymous_variant	0			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.57C>T	X.37:g.68725182C>T			B1ALV6|B9EGK1|D3DVU1	Silent	SNP	NULL	p.C19	ENST00000252338.4	37	c.57	CCDS35317.1	X																																																																																			0	NULL		0.682	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	protein_coding	OTTHUMT00000057037.1	23	28	0	0.00	0	0	C	NM_015686	0	0		68725182	1	no_errors	ENST00000252338	ensembl	human	known	74_37	silent	9	24	30.77	11.11	4	3	SNP	1	T	T	68725182	C	T	68725182	2	4	97	1	0	0	0	0	0	0	0	1	5466	805	28	3		3	FAM155B	23	68725182	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	18286263	68725182	86545378	720	1919											
KIF4A	24137	genome.wustl.edu	37	chrX	69510595	69510595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttgtatttgatccctctActgaacaggaagaagtcttc	11	15	7	8	0	2	3	0	2	2	1	4	4	3	4	1	1	2	1	1	1	5	6			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:69510595A>G	ENST00000374403.3	+	3	257	c.175A>G	c.(175-177)Act>Gct	p.T59A	PDZD11_ENST00000374454.1_5'Flank|PDZD11_ENST00000473667.1_5'Flank|KIF4A_ENST00000485406.1_3'UTR|PDZD11_ENST00000239666.4_5'Flank|KIF4A_ENST00000374388.3_Missense_Mutation_p.T59A	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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						TGATCCCTCTACTGAACAGGA	0.408																																							0											0													124	96	106					X																	69510595		2203	4300	6503	SO:0001583	missense	0			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.175A>G	X.37:g.69510595A>G	ENSP00000363524:p.Thr59Ala		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.T59A	ENST00000374403.3	37	c.175	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	a	11.59	1.685232	0.29872	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.71103	-0.54;-0.54	5.64	2.02	0.26589	Kinesin, motor domain (4);	0.309004	0.28504	N	0.015108	T	0.42017	0.1184	N	0.03948	-0.315	0.32776	N	0.503163	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.36138	-0.9760	10	0.33141	T	0.24	.	6.9014	0.24285	0.6327:0.0:0.3673:0.0	.	59;59	O95239;O95239-2	KIF4A_HUMAN;.	A	59	ENSP00000363509:T59A;ENSP00000363524:T59A	ENSP00000363509:T59A	T	+	1	0	KIF4A	69427320	1.000000	0.71417	0.920000	0.36463	0.995000	0.86356	3.389000	0.52516	0.397000	0.25310	0.483000	0.47432	ACT	0	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.408	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	protein_coding	OTTHUMT00000057068.1	77	193	0	0.00	0	0	A	NM_012310	0	0		69510595	1	no_errors	ENST00000374403	ensembl	human	known	74_37	missense	35	174	16.67	15.46	7	32	SNP	0.934	G	G	69510595	A	G	69510595	3	3	97	1	0	0	0	0	1	0	0	0	8303	391	14	3	181	3	KIF4A	23	69510595	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	785413	69510595	85759965	721	1920											
GDPD2	54857	genome.wustl.edu	37	chrX	69644872	69644872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctccgtctgggcccGctgcctccactgcctgtata	3	11	10	17	2	1	0	0	0	1	0	3	0	3	0	5	1	4	4	5	1	2	2			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:69644872G>A	ENST00000374382.3	+	2	289	c.38G>A	c.(37-39)cGc>cAc	p.R13H	GDPD2_ENST00000536730.1_Intron|GDPD2_ENST00000453994.2_Missense_Mutation_p.R13H|GDPD2_ENST00000538649.1_Intron	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	13					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)					GTCTGGGCCCGCTGCCTCCAC	0.642																																							0											0													19	14	16					X																	69644872		2201	4291	6492	SO:0001583	missense	0			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.38G>A	X.37:g.69644872G>A	ENSP00000363503:p.Arg13His		B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.R13H	ENST00000374382.3	37	c.38	CCDS14402.1	X	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995159	0.54147	.	.	ENSG00000130055	ENST00000453994;ENST00000374382	T;T	0.22945	1.93;2.53	5.77	2.75	0.32379	.	0.546985	0.19196	N	0.120318	T	0.13415	0.0325	N	0.24115	0.695	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.001	T	0.11542	-1.0583	9	.	.	.	-3.4584	4.6354	0.12521	0.2175:0.267:0.5155:0.0	.	13;13	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	H	13	ENSP00000414019:R13H;ENSP00000363503:R13H	.	R	+	2	0	GDPD2	69561597	0.705000	0.27846	1.000000	0.80357	0.998000	0.95712	-0.229000	0.09098	0.514000	0.28300	0.600000	0.82982	CGC	0	NULL		0.642	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	protein_coding	OTTHUMT00000057070.1	84	71	0	0.00	0	0	G	NM_017711	0	0		69644872	1	no_errors	ENST00000453994	ensembl	human	known	74_37	missense	48	43	30.43	34.85	21	23	SNP	1	A	A	69644872	G	A	69644872	3	1	97	1	0	0	0	0	1	0	0	0	6324	1087	38	1	40	1	GDPD2	23	69644872	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	134277	69644872	85625688	722	1921											
HDX	139324	genome.wustl.edu	37	chrX	83724352	83724352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttctgtaatttgtgtgtCtgtatgtttgtttgttcctt	3	24	9	5	0	2	0	0	0	2	0	3	0	3	0	1	0	1	6	1	0	2	8			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:83724352C>T	ENST00000297977.5	-	3	490	c.379G>A	c.(379-381)Gac>Aac	p.D127N	HDX_ENST00000506585.2_Missense_Mutation_p.D69N|HDX_ENST00000373177.2_Missense_Mutation_p.D127N	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	127						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATTTGTGTGTCTGTATGTTTG	0.388																																					Pancreas(53;231 1169 36156 43751 51139)		0											0													293	240	258					X																	83724352		2203	4300	6503	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.379G>A	X.37:g.83724352C>T	ENSP00000297977:p.Asp127Asn		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.D127N	ENST00000297977.5	37	c.379	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.999514	0.00435	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.38887	1.61;1.67;1.61;1.11	4.75	2.33	0.28932	.	0.482216	0.22548	N	0.058635	T	0.12050	0.0293	N	0.01188	-0.97	0.22292	N	0.999221	B	0.02656	0.0	B	0.01281	0.0	T	0.35599	-0.9782	10	0.02654	T	1	-32.2333	7.7655	0.28978	0.0:0.1887:0.0:0.8113	.	127	Q7Z353	HDX_HUMAN	N	127;69;127;69	ENSP00000297977:D127N;ENSP00000362272:D69N;ENSP00000423670:D127N;ENSP00000387790:D69N	ENSP00000297977:D127N	D	-	1	0	HDX	83611008	1.000000	0.71417	0.657000	0.29651	0.427000	0.31564	1.878000	0.39608	0.248000	0.21435	-0.503000	0.04515	GAC	0	NULL		0.388	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	protein_coding	OTTHUMT00000057379.2	102	274	0	0.36	0	1	C	NM_144657	0	0		83724352	-1	no_errors	ENST00000297977	ensembl	human	known	74_37	missense	54	222	32.5	23.97	26	70	SNP	0.858	T	T	83724352	C	T	83724352	3	4	97	1	0	0	0	0	1	0	0	0	7026	913	32	3	1725	3	HDX	23	83724352	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	14079480	83724352	71546208	723	1922											
ZNF711	7552	genome.wustl.edu	37	chrX	84526621	84526621	+	Frame_Shift_Del	DEL	A	A	-																															ttcagacaacaaaatgagctAaaaaaacatatgaagaccca																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:84526621delA	ENST00000373165.3	+	9	2379	c.2073delA	c.(2071-2073)ctafs	p.L691fs	ZNF711_ENST00000276123.3_Frame_Shift_Del_p.L691fs|ZNF711_ENST00000542798.1_Frame_Shift_Del_p.L533fs|ZNF711_ENST00000395402.1_Frame_Shift_Del_p.L699fs|ZNF711_ENST00000360700.4_Frame_Shift_Del_p.L737fs	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	691					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						AAAATGAGCTAAAAAAACATA	0.358																																							0											0													112	96	102					X																	84526621		2203	4300	6503	SO:0001589	frameshift_variant	0			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.2073delA	X.37:g.84526621delA	ENSP00000362260:p.Leu691fs		B4DSV4|Q6NX42|Q9Y4J6	Frame_Shift_Del	DEL	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K701fs	ENST00000373165.3	37	c.2097	CCDS35344.1	X																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	protein_coding	OTTHUMT00000057388.2	94	220	0	0.00	0	0	A	NM_021998	0	0		84526621	1	no_errors	ENST00000395402	ensembl	human	known	74_37	frame_shift_del	45	161	34.78	32.07	24	76	DEL	0.506	0	-	84526621	A	-	84526621	7	5	97	1	0	1	0	1	0	0	0	0	18113	349	13	0	2099	0	ZNF711	23	84526621	Frame_Shift_Del	DEL	A	TCGA-ZB-A966-01A-11D-A428-09	802269	84526621	70743939	724	1923											
HNRNPH2	3188	genome.wustl.edu	37	chrX	100668112	100668112	+	Frame_Shift_Del	DEL	T	T	-																															cgatcacagctatgtagaacTttttttgaattctacagcag																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:100668112delT	ENST00000316594.5	+	2	1214	c.1136delT	c.(1135-1137)cttfs	p.L379fs		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	379	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|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(3)|large_intestine(2)|lung(6)|skin(1)	12						TATGTAGAACTTTTTTTGAAT	0.453																																							0											0													158	150	153					X																	100668112		2203	4300	6503	SO:0001589	frameshift_variant	0			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"RNA binding motif (RRM) containing"	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1136delT	X.37:g.100668112delT	ENSP00000361927:p.Leu379fs		A1L400|Q9HHA7	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.L381fs	ENST00000316594.5	37	c.1136	CCDS14485.1	X																																																																																			0	NULL		0.453	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH2	protein_coding	OTTHUMT00000057556.1	30	139	0	0.00	0	0	T	NM_019597	0	0		100668112	1	no_errors	ENST00000316594	ensembl	human	known	74_37	frame_shift_del	19	111	29.63	31.90	8	52	DEL	1	0	-	100668112	T	-	100668112	7	5	97	1	0	1	0	1	0	0	0	0	7267	1609	56	0	1138	0	HNRNPH2	23	100668112	Frame_Shift_Del	DEL	T	TCGA-ZB-A966-01A-11D-A428-09	16141491	100668112	54602448	725	1924											
ESX1	80712	genome.wustl.edu	37	chrX	103495107	103495107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggcgccatgggcggcccGggtggcacacgcgccatggg	6	3	19	13	5	0	1	0	0	0	1	0	1	0	1	3	6	0	1	3	6	0	0			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:103495107G>A	ENST00000372588.4	-	4	1106	c.1023C>T	c.(1021-1023)ccC>ccT	p.P341P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	341	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				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						TGGGCGGCCCGGGTGGCACAC	0.806																																					Pancreas(200;1705 2227 25194 28471 45274)		0											0													1	3	2					X																	103495107		524	1808	2332	SO:0001819	synonymous_variant	0			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.1023C>T	X.37:g.103495107G>A			B0QYU3|Q7Z6K7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU	p.P341	ENST00000372588.4	37	c.1023	CCDS14516.1	X																																																																																			0	NULL		0.806	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	protein_coding	OTTHUMT00000057763.2	17	9	0	0.00	0	0	G	NM_153448	0	0		103495107	-1	no_errors	ENST00000372588	ensembl	human	known	74_37	silent	17	6	15	0.00	3	0	SNP	0	A	A	103495107	G	A	103495107	2	1	97	1	0	0	0	0	0	0	0	1	5263	1103	39	2		2	ESX1	23	103495107	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	2826995	103495107	51775453	726	1925											
RNF128	79589	genome.wustl.edu	37	chrX	105970576	105970576	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcgtctggagccgtcAtctttaacttccccgggacc	6	9	13	13	3	3	0	1	0	2	0	4	3	4	2	4	4	2	0	4	4	1	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:105970576A>G	ENST00000255499.2	+	1	683	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	145	PA.				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						TGGAGCCGTCATCTTTAACTT	0.602																																							0											0													54	51	52					X																	105970576		2203	4300	6503	SO:0001583	missense	0			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.433A>G	X.37:g.105970576A>G	ENSP00000255499:p.Ile145Val		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I145V	ENST00000255499.2	37	c.433	CCDS14521.1	X	.	.	.	.	.	.	.	.	.	.	A	6.167	0.398921	0.11696	.	.	ENSG00000133135	ENST00000255499	T	0.06608	3.28	4.29	3.12	0.35913	Protease-associated domain, PA (1);	0.220104	0.40302	N	0.001134	T	0.03608	0.0103	N	0.21142	0.635	0.43632	D	0.996022	B	0.21225	0.053	B	0.26864	0.074	T	0.28459	-1.0043	10	0.05620	T	0.96	.	6.4258	0.21768	0.8825:0.0:0.1175:0.0	.	145	Q8TEB7	RN128_HUMAN	V	145	ENSP00000255499:I145V	ENSP00000255499:I145V	I	+	1	0	RNF128	105857232	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	1.901000	0.39838	1.534000	0.49203	0.486000	0.48141	ATC	0	pfam_Protease-assoc_domain		0.602	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	protein_coding	OTTHUMT00000057804.1	61	113	0	0.00	0	0	A	NM_024539	0	0		105970576	1	no_errors	ENST00000255499	ensembl	human	known	74_37	missense	22	91	54.17	34.06	26	47	SNP	1	G	G	105970576	A	G	105970576	3	3	97	1	0	0	0	0	1	0	0	0	13436	217	8	3	845	3	RNF128	23	105970576	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	2475469	105970576	49299984	727	1926											
IRS4	8471	genome.wustl.edu	37	chrX	107979451	107979451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacccggtcccaatgagtgCggtcggggttcccgaggaaa	8	6	15	12	5	0	1	0	1	0	0	3	4	2	2	3	5	1	1	3	5	2	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:107979451C>T	ENST00000372129.2	-	1	200	c.124G>A	c.(124-126)Gca>Aca	p.A42T	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	42					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						CCAATGAGTGCGGTCGGGGTT	0.652																																							0											0													25	27	26					X																	107979451		2198	4285	6483	SO:0001583	missense	0			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.124G>A	X.37:g.107979451C>T	ENSP00000361202:p.Ala42Thr			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.A42T	ENST00000372129.2	37	c.124	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	c	16.28	3.077889	0.55753	.	.	ENSG00000133124	ENST00000372129	T	0.40756	1.02	3.24	3.24	0.37175	.	0.229512	0.22366	N	0.061012	T	0.27663	0.0680	N	0.08118	0	0.30086	N	0.808773	D	0.61080	0.989	P	0.46917	0.531	T	0.19031	-1.0318	10	0.66056	D	0.02	-0.9367	11.4508	0.50151	0.0:1.0:0.0:0.0	.	42	O14654	IRS4_HUMAN	T	42	ENSP00000361202:A42T	ENSP00000361202:A42T	A	-	1	0	IRS4	107866107	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.160000	0.50739	1.905000	0.55150	0.431000	0.28591	GCA	0	NULL		0.652	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	protein_coding	OTTHUMT00000057879.1	50	43	0	0.00	0	0	C	NM_003604	0	0		107979451	-1	no_errors	ENST00000372129	ensembl	human	known	74_37	missense	25	32	35.9	36.00	14	18	SNP	1	T	T	107979451	C	T	107979451	3	4	97	1	0	0	0	0	1	0	0	0	7842	768	27	1	3653	1	IRS4	23	107979451	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	2008875	107979451	47291109	728	1927											
KIAA1210	57481	genome.wustl.edu	37	chrX	118217055	118217055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtgaacatctttttaGgttggttttcatttgcagag	9	17	11	4	0	2	2	1	1	1	1	2	3	2	3	0	3	2	3	0	3	3	7			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:118217055G>A	ENST00000402510.2	-	13	4876	c.4877C>T	c.(4876-4878)cCt>cTt	p.P1626L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1626										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						CATCTTTTTAGGTTGGTTTTC	0.388																																							0											0													205	173	183					X																	118217055		1881	4098	5979	SO:0001583	missense	0			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.4877C>T	X.37:g.118217055G>A	ENSP00000384670:p.Pro1626Leu		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.P1626L	ENST00000402510.2	37	c.4877	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588721	0.46110	.	.	ENSG00000250423	ENST00000402510	T	0.10860	2.83	5.07	1.99	0.26369	.	.	.	.	.	T	0.11367	0.0277	M	0.64997	1.995	0.09310	N	1	B	0.32829	0.386	B	0.30646	0.118	T	0.21314	-1.0249	9	0.56958	D	0.05	.	5.6931	0.17841	0.1015:0.0:0.498:0.4005	.	1626	Q9ULL0	K1210_HUMAN	L	1626	ENSP00000384670:P1626L	ENSP00000384670:P1626L	P	-	2	0	RP13-347D8.6	118101083	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.255000	0.18333	0.068000	0.16574	0.513000	0.50165	CCT	0	NULL		0.388	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	protein_coding	OTTHUMT00000371251.2	54	210	0	0.47	0	1	G	NM_020721	0	0		118217055	-1	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	35	167	30	27.39	15	63	SNP	0	A	A	118217055	G	A	118217055	3	1	97	1	0	0	0	0	1	0	0	0	8214	1000	35	3	260	3	KIAA1210	23	118217055	Missense_Mutation	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	10237604	118217055	37053505	729	1928											
ARHGAP36	158763	genome.wustl.edu	37	chrX	130215768	130215768	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccccaggacacaacccCgaccgcaggacgaagatggt	12	2	13	14	3	0	1	0	0	0	1	0	6	0	4	5	4	2	1	5	4	2	0	rs150725005	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:130215768C>T	ENST00000276211.5	+	2	474	c.129C>T	c.(127-129)ccC>ccT	p.P43P	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Silent_p.P31P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	43					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						GACACAACCCCGACCGCAGGA	0.552																																							0											0													158	128	138					X																	130215768		2203	4300	6503	SO:0001819	synonymous_variant	0				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.129C>T	X.37:g.130215768C>T			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P43	ENST00000276211.5	37	c.129	CCDS14628.1	X																																																																																			0	NULL		0.552	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	protein_coding	OTTHUMT00000355073.1	52	162	0	0.00	0	0	C	NM_144967	0	0		130215768	1	no_errors	ENST00000276211	ensembl	human	known	74_37	silent	13	126	43.48	26.74	10	46	SNP	0.007	T	T	130215768	C	T	130215768	2	4	97	1	0	0	0	0	0	0	0	1	883	639	23	2		2	ARHGAP36	23	130215768	Silent	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	11998713	130215768	25054792	730	1929											
FAM127A	8933	genome.wustl.edu	37	chrX	134166467	134166467	+	Silent	SNP	T	T	C																															ctggccttgccgatccggccTgcgacgcgtcgctggaggaa																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134166467T>C	ENST00000257013.7	+	1	135	c.54T>C	c.(52-54)ccT>ccC	p.P18P	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)				endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CGATCCGGCCTGCGACGCGTC	0.642																																							0											0													74	77	76					X																	134166467		2110	4171	6281	SO:0001819	synonymous_variant	0			Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"CAAX box 1"	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.54T>C	X.37:g.134166467T>C			Q6IBF1	Silent	SNP	NULL	p.P18	ENST00000257013.7	37	c.54	CCDS43997.1	X																																																																																			0	NULL		0.642	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM127A	protein_coding	OTTHUMT00000058391.2	63	27	0	0.00	0	0	T	NM_001078171	0	0		134166467	1	no_errors	ENST00000257013	ensembl	human	novel	74_37	silent	63	44	7.35	6.38	5	3	SNP	0	C	C	134166467	T	C	134166467	2	2	97	1	0	0	0	0	0	0	0	1	5431	1567	55	4		4	FAM127A	23	134166467	Silent	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	3950699	134166467	21104093	731	1930	8	2									
FAM127A	8933	genome.wustl.edu	37	chrX	134166471	134166471	+	Missense_Mutation	SNP	A	A	G																															ccttgccgatccggcctgcgAcgcgtcgctggaggaacccg																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134166471A>G	ENST00000257013.7	+	1	139	c.58A>G	c.(58-60)Acg>Gcg	p.T20A	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)				endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCGGCCTGCGACGCGTCGCTG	0.642																																							0											0													74	77	76					X																	134166471		2107	4177	6284	SO:0001583	missense	0			Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"CAAX box 1"	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.58A>G	X.37:g.134166471A>G	ENSP00000257013:p.Thr20Ala		Q6IBF1	Missense_Mutation	SNP	NULL	p.T20A	ENST00000257013.7	37	c.58	CCDS43997.1	X	.	.	.	.	.	.	.	.	.	.	a	0.333	-0.955060	0.02285	.	.	ENSG00000134590	ENST00000257013	T	0.26373	1.74	3.8	-7.6	0.01303	.	.	.	.	.	T	0.05777	0.0151	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18053	-1.0349	9	0.02654	T	1	.	8.8178	0.35007	0.1218:0.2897:0.5885:0.0	.	20	A6ZKI3	F127A_HUMAN	A	20	ENSP00000257013:T20A	ENSP00000257013:T20A	T	+	1	0	FAM127A	133994137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.133000	0.03232	-3.211000	0.00214	-2.252000	0.00282	ACG	0	NULL		0.642	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM127A	protein_coding	OTTHUMT00000058391.2	63	27	0	0.00	0	0	A	NM_001078171	0	0		134166471	1	no_errors	ENST00000257013	ensembl	human	novel	74_37	missense	64	45	7.25	6.25	5	3	SNP	0	G	G	134166471	A	G	134166471	3	3	97	1	0	0	0	0	1	0	0	0	5431	275	10	3	60	3	FAM127A	23	134166471	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	4	134166471	21104089	732	1931	8	2									
FAM127B	26071	genome.wustl.edu	37	chrX	134185997	134185997	+	Missense_Mutation	SNP	A	A	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgaacatgtaggagcTcgtctgcacgatgaactccg	10	8	11	12	4	1	1	0	1	1	0	4	4	3	2	2	1	4	3	2	1	3	1	rs2498776	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134185997A>C	ENST00000370775.2	-	1	208	c.142T>G	c.(142-144)Tgc>Ggc	p.C48G	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	48			S -> C (in dbSNP:rs2498776). {ECO:0000269|PubMed:15489334}.					p.S48C(1)		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)					ATGTAGGAGCTCGTCTGCACG	0.637																																							0											1	Substitution - Missense(1)	stomach(1)											83	89	87					X																	134185997		2135	4223	6358	SO:0001583	missense	0			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.142T>G	X.37:g.134185997A>C	ENSP00000375267:p.Cys48Gly		A2A2V9|Q8TBU2	Missense_Mutation	SNP	NULL	p.S48G	ENST00000370775.2	37	c.142	CCDS43998.1	X																																																																																			0	NULL		0.637	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127B	protein_coding	OTTHUMT00000058393.2	101	42	0	0.00	0	0	A	NM_001078172	0	0		134185997	-1	no_errors	ENST00000370775	ensembl	human	known	74_37	missense	60	32	16.67	11.11	12	4	SNP	0.998	C	C	134185997	A	C	134185997	3	2	97	1	0	0	0	0	1	0	0	0	5432	1551	54	4	267	4	FAM127B	23	134185997	Missense_Mutation	SNP	A	TCGA-ZB-A966-01A-11D-A428-09	19526	134185997	21084563	733	1932			1	4		4	3	102	N	T_G_CC_A	2.8811e-06
FAM127B	26071	genome.wustl.edu	37	chrX	134186034	134186034	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggagtcggtcggtatcTccgtcaaacgtctcgggaaa	8	9	13	11	6	3	0	1	0	2	0	8	2	4	2	2	4	1	1	2	4	3	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134186034T>G	ENST00000370775.2	-	1	171	c.105A>C	c.(103-105)ggA>ggC	p.G35G	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	35										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)					GGTCGGTATCTCCGTCAAACG	0.637																																							0											0													94	98	96					X																	134186034		2100	4195	6295	SO:0001819	synonymous_variant	0			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.105A>C	X.37:g.134186034T>G			A2A2V9|Q8TBU2	Silent	SNP	NULL	p.G35	ENST00000370775.2	37	c.105	CCDS43998.1	X																																																																																			0	NULL		0.637	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127B	protein_coding	OTTHUMT00000058393.2	95	50	0	0.00	0	0	T	NM_001078172	0	0		134186034	-1	no_errors	ENST00000370775	ensembl	human	known	74_37	silent	59	40	15.71	18.37	11	9	SNP	0.942	G	G	134186034	T	G	134186034	2	3	97	1	0	0	0	0	0	0	0	1	5432	1538	54	5		5	FAM127B	23	134186034	Silent	SNP	T	TCGA-ZB-A966-01A-11D-A428-09	37	134186034	21084526	734	1933			1	4		4	3	102	N	T_G_CC_A	2.8811e-06
FAM127B	26071	genome.wustl.edu	37	chrX	134186094	134186094	+	Silent	SNP	G	G	C																															cgacgcgccgcgggccggagGggcccggccaggagggcctt																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134186094G>C	ENST00000370775.2	-	1	111	c.45C>G	c.(43-45)ccC>ccG	p.P15P	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	15										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)					CGGGCCGGAGGGGCCCGGCCA	0.687																																							0											0													52	57	56					X																	134186094		1931	4095	6026	SO:0001819	synonymous_variant	0			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.45C>G	X.37:g.134186094G>C			A2A2V9|Q8TBU2	Silent	SNP	NULL	p.P15	ENST00000370775.2	37	c.45	CCDS43998.1	X																																																																																			0	NULL		0.687	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127B	protein_coding	OTTHUMT00000058393.2	48	54	0	0.00	0	0	G	NM_001078172	0	0		134186094	-1	no_errors	ENST00000370775	ensembl	human	known	74_37	silent	36	35	23.4	25.53	11	12	SNP	0.002	C	C	134186094	G	C	134186094	2	2	97	1	0	0	0	0	0	0	0	1	5432	1219	43	5		5	FAM127B	23	134186094	Silent	SNP	G	TCGA-ZB-A966-01A-11D-A428-09	60	134186094	21084466	735	1934	9	2	1	4		4	3	102	N	T_G_CC_A	2.8811e-06
FAM127B	26071	genome.wustl.edu	37	chrX	134186098	134186099	+	Missense_Mutation	DNP	CC	CC	AA																															gcgccgcgggccggaggggcCcggccaggagggccttcatc																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134186098_134186099CC>AA	ENST00000370775.2	-	1	106_107	c.40_41GG>TT	c.(40-42)GGg>TTg	p.G14L	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	14								p.G14V(1)		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)					CCGGAGGGGCCCGGCCAGGAGG	0.693																																							0											1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	0			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.40_41delinsAA	X.37:g.134186098_134186099delinsAA	ENSP00000375267:p.Gly14Leu		A2A2V9|Q8TBU2	Missense_Mutation	SNP	NULL	p.G14V|p.G14W	ENST00000370775.2	37	c.41|c.40	CCDS43998.1	X																																																																																			0	NULL		0.693	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127B	protein_coding	OTTHUMT00000058393.2	45|44	53	0	0.00	0	0	C	NM_001078172	0	0		134186098|134186099	-1	no_errors	ENST00000370775	ensembl	human	known	74_37	missense	34	34	24.44	26.09	11	12	SNP	0.003|0	A	AA	134186099	CC	AA	134186098	3	1	97	1	0	0	0	0	1	0	0	0	5432	623	22	5	368	5	FAM127B	23	134186098	Missense_Mutation	DNP	CC	TCGA-ZB-A966-01A-11D-A428-09	4	134186098	21084462	736	1935	9	2	1	4		4	3	102	N	T_G_CC_A	2.8811e-06
RBMX	27316	genome.wustl.edu	37	chrX	135961586	135961589	+	Start_Codon_Del	DEL	TGTT	TGTT	-																															tgggcgatctgcttcaaccaTgtttttttttttttgggccg																								rs201673579|rs2011584		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TGTT	TGTT	TGTT	-	TGTT	TGTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:135961586_135961589delTGTT	ENST00000320676.7	-	0	152_155				SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000562646.1_Start_Codon_Del|RBMX_ENST00000431446.3_Start_Codon_Del|RBMX_ENST00000565438.1_Intron	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)					GCTTCAACCATGTTTTTTTTTTTT	0.392																																							0											1	Unknown(1)	ovary(1)																																								SO:0001582	initiator_codon_variant	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517		X.37:g.135961586_135961589delTGTT			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																																																																																			0	NULL		0.392	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	protein_coding	OTTHUMT00000058507.1	30	95	0	1.04	0	1	TGTT	NM_002139	0	0		135961589	-1	no_errors	ENST00000320676	ensembl	human	known	74_37	frame_shift_del	17	89	19.05	30.47	4	39	DEL	1	0	-	135961589	TGTT	-	135961586	7	5	97	1	0	1	0	1	0	0	0	0	13151	1464	51	0	1261	0	RBMX	23	135961586	Start_Codon_Del	DEL	TGTT	TCGA-ZB-A966-01A-11D-A428-09	1775488	135961586	19308974	737	1936											
FGF13	2258	genome.wustl.edu	37	chrX	137939823	137939823	+	Frame_Shift_Del	DEL	G	G	-																															taatgtattcctgtgtgccaGggggggcgtcatccagaact																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:137939823delG	ENST00000370603.3	-	2	67	c.68delC	c.(67-69)cctfs	p.P23fs	FGF13_ENST00000441825.2_5'UTR|FGF13_ENST00000541469.1_Intron			Q92913	FGF13_HUMAN	fibroblast growth factor 13	0	Mediates targeting to the nucleus. {ECO:0000250}.				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)					CTGTGTGCCAGGGGGGGCGTC	0.433																																							0											0													100	85	89					X																	137939823		1568	3582	5150	SO:0001589	frameshift_variant	0			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	ENST00000370603.3:c.68delC	X.37:g.137939823delG	ENSP00000359635:p.Pro23fs		B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Frame_Shift_Del	DEL	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam	p.P23fs	ENST00000370603.3	37	c.68	CCDS55513.1	X																																																																																			0	NULL		0.433	FGF13-201	KNOWN	basic|CCDS	protein_coding	FGF13	protein_coding		31	200	0	0.50	0	1	G	NM_004114	0	0		137939823	-1	no_errors	ENST00000370603	ensembl	human	known	74_37	frame_shift_del	22	161	29.03	33.20	9	80	DEL	1	0	-	137939823	G	-	137939823	7	5	97	1	0	1	0	1	0	0	0	0	5842	1000	35	0	942	0	FGF13	23	137939823	Frame_Shift_Del	DEL	G	TCGA-ZB-A966-01A-11D-A428-09	1978237	137939823	17330737	738	1937											
CDR1	1038	genome.wustl.edu	37	chrX	139865788	139865788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagaaagaaatccaggtCttccagtcaatcagtgtctt	12	12	7	10	0	4	2	2	0	2	2	7	2	7	2	3	1	0	0	3	1	3	3			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:139865788C>G	ENST00000370532.2	-	1	935	c.744G>C	c.(742-744)aaG>aaC	p.K248N		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	248										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)				AAATCCAGGTCTTCCAGTCAA	0.428																																							0											0													102	101	101					X																	139865788		2203	4300	6503	SO:0001583	missense	0				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.744G>C	X.37:g.139865788C>G	ENSP00000359563:p.Lys248Asn		Q5JXH6	Missense_Mutation	SNP	NULL	p.K248N	ENST00000370532.2	37	c.744	CCDS14670.1	X	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694424	0.48202	.	.	ENSG00000184258	ENST00000370532	.	.	.	3.82	2.95	0.34219	.	.	.	.	.	T	0.34687	0.0906	N	0.08118	0	0.24839	N	0.992474	D	0.76494	0.999	D	0.72075	0.976	T	0.17289	-1.0374	7	.	.	.	.	8.9625	0.35856	0.0:0.8795:0.0:0.1205	.	248	P51861	CDR1_HUMAN	N	248	.	.	K	-	3	2	CDR1	139693454	0.034000	0.19679	0.116000	0.21606	0.002000	0.02628	0.099000	0.15210	0.733000	0.32492	-0.273000	0.10243	AAG	0	NULL		0.428	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR1	protein_coding	OTTHUMT00000058583.1	147	65	0	0.00	0	0	C	NM_004065	0	0		139865788	-1	no_errors	ENST00000370532	ensembl	human	known	74_37	missense	78	50	27.1	23.08	29	15	SNP	0.997	G	G	139865788	C	G	139865788	3	3	97	1	0	0	0	0	1	0	0	0	3171	912	32	5	48	5	CDR1	23	139865788	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1925965	139865788	15404772	739	1938											
PRRG3	79057	genome.wustl.edu	37	chrX	150869296	150869297	+	Frame_Shift_Ins	INS	-	-	G																															ggtggtgctggggcccagtcINSgggggggcaggaccacagtc																								rs139807152	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:150869296_150869297insG	ENST00000370353.3	+	4	877_878	c.487_488insG	c.(487-489)cggfs	p.R163fs	PRRG3_ENST00000538575.1_Frame_Shift_Ins_p.R163fs			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	163						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R163P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCCCAGTCGGGGGGGCAGG	0.673																																							0											1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.494dupG	X.37:g.150869303_150869303dupG	ENSP00000359378:p.Arg163fs		A1A523|A1A575|Q8N2N6	Frame_Shift_Ins	INS	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.R166fs	ENST00000370353.3	37	c.487_488	CCDS14699.1	X																																																																																			0	NULL		0.673	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	protein_coding	OTTHUMT00000060880.1	21	53	0	0.00	0	0	0	NM_024082	0	0		150869297	1	no_errors	ENST00000370353	ensembl	human	known	74_37	frame_shift_ins	18	35	18.18	33.96	4	18	INS	0.000:0.000	G	G	150869297	-	G	150869296	7	5	97	1	0	1	1	0	0	0	0	0	12607	875	31	0	497	0	PRRG3	23	150869296	Frame_Shift_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	11003508	150869296	4401264	740	1939											
ZNF185	7739	genome.wustl.edu	37	chrX	152087569	152087570	+	In_Frame_Ins	INS	-	-	GAG																															gctctacatcaggggacaccINSgaggaggaggaggaggagga																										TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	GAG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:152087569_152087570insGAG	ENST00000370268.4	+	7	511_512	c.474_475insGAG	c.(475-477)gag>GAGgag	p.159_159E>EE	ZNF185_ENST00000535861.1_In_Frame_Ins_p.159_159E>EE|ZNF185_ENST00000324823.6_In_Frame_Ins_p.24_24E>EE|ZNF185_ENST00000539731.1_In_Frame_Ins_p.159_159E>EE|ZNF185_ENST00000318504.7_In_Frame_Ins_p.159_159E>EE|ZNF185_ENST00000318529.8_In_Frame_Ins_p.24_24E>EE|ZNF185_ENST00000449285.2_In_Frame_Ins_p.159_159E>EE|ZNF185_ENST00000370270.2_In_Frame_Ins_p.159_159E>EE			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	159	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)					CAGGGGACACCgaggaggagga	0.589																																							0											0																																										SO:0001652	inframe_insertion	0			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.493_495dupGAG	X.37:g.152087576_152087578dupGAG	ENSP00000359291:p.Glu165dup		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Ins	INS	smart_Znf_LIM,pfscan_Znf_LIM	p.162in_frame_insE	ENST00000370268.4	37	c.474_475	CCDS48184.1	X																																																																																			0	NULL		0.589	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	protein_coding	OTTHUMT00000377480.1	50	76	0	0.00	0	0	0	NM_007150	0	0		152087570	1	no_errors	ENST00000370270	ensembl	human	known	74_37	in_frame_ins	23	105	42.5	16.67	17	21	INS	0.000:0.026	GAG	GAG	152087570	-	GAG	152087569	7	5	97	1	0	1	1	0	0	0	0	0	17749	639	23	0	515	0	ZNF185	23	152087569	In_Frame_Ins	INS	-	TCGA-ZB-A966-01A-11D-A428-09	1218273	152087569	3182991	741	1940											
MPP1	4354	genome.wustl.edu	37	chrX	154033630	154033630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcccccactctcgccctCgctcgccttgagggtcatct	3	10	9	19	3	3	1	1	1	2	0	6	1	3	1	4	1	1	2	4	1	0	1			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:154033630C>T	ENST00000369534.3	-	1	166	c.19G>A	c.(19-21)Gag>Aag	p.E7K	MPP1_ENST00000413259.3_5'UTR|MPP1_ENST00000393531.1_Missense_Mutation_p.E7K	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	7					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)					CTCTCGCCCTCGCTCGCCTTG	0.662																																							0											0													34	26	29					X																	154033630		2203	4298	6501	SO:0001583	missense	0				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.19G>A	X.37:g.154033630C>T	ENSP00000358547:p.Glu7Lys		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_PDZ,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,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.E7K	ENST00000369534.3	37	c.19	CCDS14762.1	X	.	.	.	.	.	.	.	.	.	.	c	11.20	1.569780	0.28003	.	.	ENSG00000130830	ENST00000369534;ENST00000393531;ENST00000453245;ENST00000428488;ENST00000369531	T;T;T;T	0.41400	2.29;2.15;1.0;1.94	4.63	3.74	0.42951	.	0.257576	0.37530	N	0.002049	T	0.16300	0.0392	N	0.11927	0.2	0.80722	D	1	B;P;B;B	0.38711	0.0;0.643;0.005;0.003	B;B;B;B	0.24974	0.0;0.057;0.002;0.001	T	0.08680	-1.0710	10	0.10902	T	0.67	.	8.464	0.32944	0.0:0.668:0.332:0.0	.	7;7;7;7	B4E325;C9J9J4;G3XAI1;Q00013	.;.;.;EM55_HUMAN	K	7	ENSP00000358547:E7K;ENSP00000377165:E7K;ENSP00000410888:E7K;ENSP00000358544:E7K	ENSP00000358544:E7K	E	-	1	0	MPP1	153686824	1.000000	0.71417	0.907000	0.35723	0.164000	0.22412	1.454000	0.35178	1.890000	0.54733	0.529000	0.55759	GAG	0	NULL		0.662	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP1	protein_coding	OTTHUMT00000061191.3	49	53	0	0.00	0	0	C	NM_002436	0	0		154033630	-1	no_errors	ENST00000369534	ensembl	human	known	74_37	missense	18	33	50	34.62	18	18	SNP	0.986	T	T	154033630	C	T	154033630	3	4	97	1	0	0	0	0	1	0	0	0	9733	893	31	2	1445	2	MPP1	23	154033630	Missense_Mutation	SNP	C	TCGA-ZB-A966-01A-11D-A428-09	1946061	154033630	1236930	742	1941											
PDE4B	5142	genome.wustl.edu	37	chr1	66384467	66384468	+	Frame_Shift_Ins	INS	-	-	AA																															atttccaggccgaccacactINSgcctttgacaacgcttccaa																										TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	-	-	-	AA	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr1:66384467_66384468insAA	ENST00000329654.4	+	3	417_418	c.230_231insAA	c.(229-234)ctgcctfs	p.P78fs	PDE4B_ENST00000371049.3_Frame_Shift_Ins_p.P78fs	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	78					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)	CCGACCACACTGCCTTTGACAA	0.436																																							0											0																																										SO:0001589	frameshift_variant	0			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	Exception_encountered	1.37:g.66384467_66384468insAA	ENSP00000332116:p.Pro78fs		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Frame_Shift_Ins	INS	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.P78fs	ENST00000329654.4	37	c.230_231	CCDS632.1	1																																																																																			0	NULL		0.436	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	protein_coding	OTTHUMT00000025188.3	51	277	0	0.00	0	0	0	NM_002600	0	0		66384468	1	no_errors	ENST00000329654	ensembl	human	known	74_37	frame_shift_ins	42	163	17.65	9.44	9	17	INS	0.973:0.964	AA	AA	66384468	-	AA	66384467	7	5	98	1	0	1	1	0	0	0	0	0	11640	1580	55	0	236	0	PDE4B	1	66384467	Frame_Shift_Ins	INS	-	TCGA-ZB-A969-01A-11D-A428-09		66384467	182866154	1	1942	10	2									
PDE4B	5142	genome.wustl.edu	37	chr1	66384468	66384468	+	Silent	SNP	G	G	A																															atttccaggccgaccacactGcctttgacaacgcttccaag																										TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr1:66384468G>A	ENST00000329654.4	+	3	418	c.231G>A	c.(229-231)ctG>ctA	p.L77L	PDE4B_ENST00000371049.3_Silent_p.L77L	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	77					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)	CGACCACACTGCCTTTGACAA	0.438																																							0											0													106	101	103					1																	66384468		2203	4300	6503	SO:0001819	synonymous_variant	0			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.231G>A	1.37:g.66384468G>A			A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.L77	ENST00000329654.4	37	c.231	CCDS632.1	1																																																																																			0	NULL		0.438	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	protein_coding	OTTHUMT00000025188.3	51	276	0	0.00	0	0	G	NM_002600	0	0		66384468	1	no_errors	ENST00000329654	ensembl	human	known	74_37	silent	42	162	17.65	10.50	9	19	SNP	0.964	A	A	66384468	G	A	66384468	2	1	98	1	0	0	0	0	0	0	0	1	11640	1306	46	3		3	PDE4B	1	66384468	Silent	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	1	66384468	182866153	2	1943	10	2									
FAM46C	54855	genome.wustl.edu	37	chr1	118166566	118166566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacctgttactaccagcCggccccttacgtcagtgatg	7	10	9	15	3	2	1	2	1	0	0	2	1	2	1	5	1	4	1	5	1	3	3	rs557599465		TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr1:118166566C>T	ENST00000369448.3	+	2	1323	c.1076C>T	c.(1075-1077)cCg>cTg	p.P359L		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	359										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)		TACTACCAGCCGGCCCCTTAC	0.567			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)																													0		Rec	yes		1	1p12	54855	"family with sequence similarity 46, member C"		L	0													121	97	105					1																	118166566		2203	4300	6503	SO:0001583	missense	0			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.1076C>T	1.37:g.118166566C>T	ENSP00000358458:p.Pro359Leu		A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	pfam_DUF1693	p.P359L	ENST00000369448.3	37	c.1076	CCDS896.1	1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223129	0.58668	.	.	ENSG00000183508	ENST00000369448	T	0.33216	1.42	5.7	4.79	0.61399	.	0.000000	0.64402	D	0.000002	T	0.28400	0.0702	M	0.88570	2.965	0.80722	D	1	B	0.15719	0.014	B	0.06405	0.002	T	0.35201	-0.9798	10	0.87932	D	0	-6.1122	13.7448	0.62868	0.0:0.9263:0.0:0.0737	.	359	Q5VWP2	FA46C_HUMAN	L	359	ENSP00000358458:P359L	ENSP00000358458:P359L	P	+	2	0	FAM46C	117968089	1.000000	0.71417	0.963000	0.40424	0.533000	0.34776	7.468000	0.80943	1.417000	0.47077	-0.136000	0.14681	CCG	0	NULL		0.567	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46C	protein_coding	OTTHUMT00000038424.1	28	363	0	0.00	0	0	C	NM_017709	rs557599465	C->T		118166566	1	no_errors	ENST00000369448	ensembl	human	known	74_37	missense	27	163	34.15	33.47	14	82	SNP	1	T	T	118166566	C	T	118166566	3	4	98	1	0	0	0	0	1	0	0	0	5567	652	23	2	1078	2	FAM46C	1	118166566	Missense_Mutation	SNP	C	TCGA-ZB-A969-01A-11D-A428-09	51782098	118166566	131084055	3	1944											
NR4A2	4929	genome.wustl.edu	37	chr2	157184975	157184975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtactgacagcgattcCggcgacgcttgtccactggg	7	8	14	12	4	0	1	0	1	0	0	2	3	2	1	2	3	2	3	2	3	1	3			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr2:157184975C>T	ENST00000339562.4	-	4	1297	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	NR4A2_ENST00000429376.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000409108.2_Missense_Mutation_p.R312Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.R323Q|NR4A2_ENST00000426264.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.R312Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	312					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|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)|zinc ion binding (GO:0008270)	p.R312Q(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ACAGCGATTCCGGCGACGCTT	0.493																																							0											1	Substitution - Missense(1)	endometrium(1)											107	98	101					2																	157184975		2203	4300	6503	SO:0001583	missense	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.935G>A	2.37:g.157184975C>T	ENSP00000344479:p.Arg312Gln		Q16311|Q53RZ2|Q6NXU0	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_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.R323Q	ENST00000339562.4	37	c.968	CCDS2201.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155991	0.78114	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	D;D;D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27;-5.27;-5.27	6.07	6.07	0.98685	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98559	1.0640	10	0.87932	D	0	.	17.5358	0.87830	0.0:0.8766:0.1234:0.0	.	312	P43354	NR4A2_HUMAN	Q	312;249;312;323;312;249	ENSP00000344479:R312Q;ENSP00000389986:R249Q;ENSP00000386747:R312Q;ENSP00000444925:R323Q;ENSP00000386993:R312Q;ENSP00000410952:R249Q	ENSP00000344479:R312Q	R	-	2	0	NR4A2	156893221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.089000	0.71384	2.885000	0.99019	0.655000	0.94253	CGG	0	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.493	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	protein_coding	OTTHUMT00000254909.2	84	343	0	0.00	0	0	C		0	0		157184975	-1	no_errors	ENST00000539077	ensembl	human	known	74_37	missense	33	105	42.11	44.50	24	85	SNP	1	T	T	157184975	C	T	157184975	3	4	98	1	0	0	0	0	1	0	0	0	10633	652	23	2	881	2	NR4A2	2	157184975	Missense_Mutation	SNP	C	TCGA-ZB-A969-01A-11D-A428-09		157184975	86014398	4	1945											
RPL29	6159	genome.wustl.edu	37	chr3	52028090	52028090	+	Frame_Shift_Del	DEL	T	T	-																															cctgcatcttctttaggcccTttttgttgtgcttcttggca																										TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr3:52028090delT	ENST00000466397.1	-	4	295	c.155delA	c.(154-156)aagfs	p.K52fs	RPL29_ENST00000294189.6_Frame_Shift_Del_p.K52fs|RPL29_ENST00000479017.1_Frame_Shift_Del_p.K52fs|RPL29_ENST00000475248.1_Frame_Shift_Del_p.K52fs|RPL29_ENST00000495383.1_Frame_Shift_Del_p.K52fs			P47914	RL29_HUMAN	ribosomal protein L29	52					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|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)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTTTAGGCCCTTTTTGTTGTG	0.537																																							0											0													57	65	62					3																	52028090		2203	4295	6498	SO:0001589	frameshift_variant	0			U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"L ribosomal proteins"	10331	protein-coding gene	gene with protein product	"60S ribosomal protein L29", "heparin/heparan sulfate-interacting protein", "HP/HS-interacting protein", "heparin/heparan sulfate-binding protein", "cell surface heparin-binding protein HIP"	601832	"ribosomal protein L29 pseudogene 10"	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.155delA	3.37:g.52028090delT	ENSP00000418868:p.Lys52fs		A8K0H3|B2R4M8|Q6IPY3	Frame_Shift_Del	DEL	pfam_Ribosomal_L29e	p.K52fs	ENST00000466397.1	37	c.155	CCDS2845.1	3																																																																																			0	NULL		0.537	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL29	protein_coding	OTTHUMT00000349680.2	77	5	0	0.00	0	0	T	NM_000992	0	0		52028090	-1	no_errors	ENST00000294189	ensembl	human	known	74_37	frame_shift_del	39	4	7.14	0.00	3	0	DEL	1	0	-	52028090	T	-	52028090	7	5	98	1	0	1	0	1	0	0	0	0	13578	1609	56	0	328	0	RPL29	3	52028090	Frame_Shift_Del	DEL	T	TCGA-ZB-A969-01A-11D-A428-09		52028090	145994340	5	1946											
ITIH4	3700	genome.wustl.edu	37	chr3	52858575	52858575	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggatcttgattagggcttCccgggtctggtcagggagag	7	10	16	8	1	3	2	1	1	2	1	4	4	4	3	1	5	0	1	1	5	1	3			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr3:52858575C>A	ENST00000266041.4	-	8	979	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	ITIH4_ENST00000434759.3_Nonsense_Mutation_p.E207*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.E295*|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.E295*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.E295*|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	295	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)		ATTAGGGCTTCCCGGGTCTGG	0.577																																							0											0													86	85	85					3																	52858575		2203	4300	6503	SO:0001587	stop_gained	0			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.883G>T	3.37:g.52858575C>A	ENSP00000266041:p.Glu295*		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Nonsense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.E295*	ENST00000266041.4	37	c.883	CCDS2865.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.649919|5.649919	0.96714|0.96714	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759|ENST00000441637	.|.	.|.	.|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.164522|.	0.40908|.	D|.	0.000991|.	.|T	.|0.74718	.|0.3753	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73427	.|-0.3986	.|4	0.87932|.	D|.	0|.	-9.1338|-9.1338	18.6619|18.6619	0.91474|0.91474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	295;295;295;295;283;207|152	.|.	ENSP00000266041:E295X|.	E|G	-|-	1|2	0|0	ITIH4|ITIH4	52833615|52833615	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.973000|0.973000	0.67179|0.67179	4.673000|4.673000	0.61604|0.61604	2.515000|2.515000	0.84797|0.84797	0.561000|0.561000	0.74099|0.74099	GAA|GGA	0	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.577	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	protein_coding	OTTHUMT00000317715.1	35	365	0	0.00	0	0	C	NM_002218	0	0		52858575	-1	no_errors	ENST00000266041	ensembl	human	known	74_37	nonsense	19	115	32.14	42.86	9	87	SNP	0.996	A	A	52858575	C	A	52858575	4	1	98	1	0	0	0	0	0	1	0	0	7906	864	30	5	1977	5	ITIH4	3	52858575	Nonsense_Mutation	SNP	C	TCGA-ZB-A969-01A-11D-A428-09	830485	52858575	145163855	6	1947											
DTX3L	151636	genome.wustl.edu	37	chr3	122288784	122288791	+	Frame_Shift_Del	DEL	TTTCACTG	TTTCACTG	-																															cagccagagggaagcatggtTttcactgtttcaagagactc																										TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	TTTCACTG	TTTCACTG	TTTCACTG	-	TTTCACTG	TTTCACTG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr3:122288784_122288791delTTTCACTG	ENST00000296161.4	+	3	2037_2044	c.1848_1855delTTTCACTG	c.(1846-1857)gttttcactgttfs	p.VFTV616fs	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	616					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V619I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAAGCATGGTTTTCACTGTTTCAAGAGA	0.418																																							0											1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1848_1855delTTTCACTG	3.37:g.122288784_122288791delTTTCACTG	ENSP00000296161:p.Val616fs		B3KWH6|Q53ZZ3|Q5MJP7	Frame_Shift_Del	DEL	smart_Znf_RING,pfscan_Znf_RING	p.T618fs	ENST00000296161.4	37	c.1848_1855	CCDS3015.1	3																																																																																			0	NULL		0.418	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	protein_coding	OTTHUMT00000355966.1	44	350	0	0.00	0	0	TTTCACTG	NM_138287	0	0		122288791	1	no_errors	ENST00000296161	ensembl	human	known	74_37	frame_shift_del	25	161	16.67	10.06	5	18	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	0	-	122288791	TTTCACTG	-	122288784	7	5	98	1	0	1	0	1	0	0	0	0	4796	1828	64	0	1858	0	DTX3L	3	122288784	Frame_Shift_Del	DEL	TTTCACTG	TCGA-ZB-A969-01A-11D-A428-09	69430209	122288784	75733646	7	1948											
SLC7A14	57709	genome.wustl.edu	37	chr3	170185016	170185016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccagtcctcctggctctCgccctctgtggcgtaggaga	4	9	12	16	2	2	1	0	0	2	1	5	2	4	1	5	3	0	2	5	3	1	1	rs530931888		TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr3:170185016C>T	ENST00000231706.5	-	8	2458	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	715					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)			TCCTGGCTCTCGCCCTCTGTG	0.582													C|||	1	0.000199681	0	0.0014	5008	,	,		14223	0		0	False		,,,				2504	0						0.9998,0.0001997											0													70	71	71					3																	170185016		2203	4300	6503	SO:0001583	missense	0			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.2143G>A	3.37:g.170185016C>T	ENSP00000231706:p.Glu715Lys		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.E715K	ENST00000231706.5	37	c.2143	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964812	0.53507	.	.	ENSG00000013293	ENST00000231706	D	0.88124	-2.34	5.76	5.76	0.90799	.	0.222646	0.41194	D	0.000937	T	0.76586	0.4008	N	0.19112	0.55	0.41941	D	0.990617	P	0.34587	0.458	B	0.22880	0.042	T	0.75238	-0.3388	10	0.10377	T	0.69	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	715	Q8TBB6	S7A14_HUMAN	K	715	ENSP00000231706:E715K	ENSP00000231706:E715K	E	-	1	0	SLC7A14	171667710	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	6.223000	0.72257	2.736000	0.93811	0.655000	0.94253	GAG	0	NULL		0.582	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	protein_coding	OTTHUMT00000352598.2	43	247	0	0.00	0	0	C	NM_020949	rs530931888	C->T		170185016	-1	no_errors	ENST00000231706	ensembl	human	known	74_37	missense	20	82	25.93	28.07	7	32	SNP	0.986	T	T	170185016	C	T	170185016	3	4	98	1	0	0	0	0	1	0	0	0	14696	893	31	2	176	2	SLC7A14	3	170185016	Missense_Mutation	SNP	C	TCGA-ZB-A969-01A-11D-A428-09	47896232	170185016	27837414	8	1949											
DNAH5	1767	genome.wustl.edu	37	chr5	13916560	13916560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taggaatagcatccatcatgGatagctgaaagatatcacca	16	9	8	8	0	2	2	2	1	0	1	3	4	3	4	2	2	2	2	2	2	6	4			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr5:13916560G>A	ENST00000265104.4	-	9	1198	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	365	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)					ATCCATCATGGATAGCTGAAA	0.294									Kartagener syndrome																														0											0													57	59	58					5																	13916560		2202	4292	6494	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1094C>T	5.37:g.13916560G>A	ENSP00000265104:p.Ser365Phe		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.S365F	ENST00000265104.4	37	c.1094	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184950	0.57909	.	.	ENSG00000039139	ENST00000265104	T	0.57273	0.41	5.26	5.26	0.73747	Dynein heavy chain, domain-1 (1);	0.192141	0.46758	D	0.000271	T	0.66819	0.2828	M	0.76574	2.34	0.49483	D	0.999799	B	0.32302	0.363	P	0.48488	0.579	T	0.68678	-0.5345	10	0.59425	D	0.04	.	13.5411	0.61674	0.0749:0.0:0.9251:0.0	.	365	Q8TE73	DYH5_HUMAN	F	365	ENSP00000265104:S365F	ENSP00000265104:S365F	S	-	2	0	DNAH5	13969560	1.000000	0.71417	0.991000	0.47740	0.595000	0.36748	5.414000	0.66405	2.607000	0.88179	0.655000	0.94253	TCC	0	pfam_Dynein_heavy_dom-1		0.294	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	152	217	0.65	0.00	1	0	G	NM_001369	0	0		13916560	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	72	116	47.83	42.29	66	85	SNP	0.975	A	A	13916560	G	A	13916560	3	1	98	1	0	0	0	0	1	0	0	0	4604	1174	41	3	13064	3	DNAH5	5	13916560	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09		13916560	166998700	9	1950											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	554	170	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	236	96	42.89	34.25	178	50	SNP	1	A	A	74146970	T	A	74146970	3	1	98	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A969-01A-11D-A428-09		74146970	84991693	10	1951											
WNK2	65268	genome.wustl.edu	37	chr9	96052266	96052266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctttctccaggtggagAagtcagaactggcccccact	8	11	10	12	0	3	2	1	0	2	2	4	3	3	2	3	3	1	1	3	3	2	2			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr9:96052266A>G	ENST00000297954.4	+	21	4984	c.4984A>G	c.(4984-4986)Aag>Gag	p.K1662E	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.K1625E|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.K1237E|WNK2_ENST00000349097.3_Missense_Mutation_p.K1274E	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1662					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						CCAGGTGGAGAAGTCAGAACT	0.542																																							0											0													57	44	48					9																	96052266		2194	4291	6485	SO:0001583	missense	0			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.4984A>G	9.37:g.96052266A>G	ENSP00000297954:p.Lys1662Glu		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.K1662E	ENST00000297954.4	37	c.4984		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.453779|4.453779	0.84209|0.84209	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	T|T;T;T;T	0.62498|0.70164	0.02|-0.46;-0.42;0.15;0.17	3.88|3.88	2.75|2.75	0.32379|0.32379	.|.	.|0.240902	.|0.40385	.|N	.|0.001108	T|T	0.71508|0.71508	0.3348|0.3348	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;B;D;D	.|0.62365	.|0.977;0.983;0.009;0.99;0.991	.|P;P;B;D;P	.|0.72982	.|0.721;0.628;0.007;0.979;0.815	T|T	0.68262|0.68262	-0.5455|-0.5455	7|10	0.25106|0.13108	T|T	0.35|0.6	.|.	5.7661|5.7661	0.18227|0.18227	0.8804:0.0:0.1196:0.0|0.8804:0.0:0.1196:0.0	.|.	.|1625;1620;1228;1625;1662	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	G|E	1228|1662;1625;1274;1237	ENSP00000414622:E1228G|ENSP00000297954:K1662E;ENSP00000378860:K1625E;ENSP00000297876:K1274E;ENSP00000411181:K1237E	ENSP00000414622:E1228G|ENSP00000297954:K1662E	E|K	+|+	2|1	0|0	WNK2|WNK2	95092087|95092087	0.028000|0.028000	0.19301|0.19301	0.765000|0.765000	0.31456|0.31456	0.840000|0.840000	0.47671|0.47671	0.920000|0.920000	0.28705|0.28705	0.853000|0.853000	0.35312|0.35312	0.459000|0.459000	0.35465|0.35465	GAA|AAG	0	NULL		0.542	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	protein_coding	OTTHUMT00000317359.1	21	169	0	0.00	0	0	A	NM_006648	0	0		96052266	1	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	7	79	53.33	37.30	8	47	SNP	0.846	G	G	96052266	A	G	96052266	3	3	98	1	0	0	0	0	1	0	0	0	17375	247	9	3	4951	3	WNK2	9	96052266	Missense_Mutation	SNP	A	TCGA-ZB-A969-01A-11D-A428-09		96052266	45161165	11	1952											
OR4C16	219428	genome.wustl.edu	37	chr11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttgttatttttttgcGtctctacttgggaacactgt	6	20	9	6	1	1	0	0	0	1	0	2	1	1	1	0	1	3	2	0	1	3	7	rs374191202		TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R31H(2)|p.R31L(1)		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)				ATTTTTTTGCGTCTCTACTTG	0.368													g|||	1	0.000199681	0	0	5008	,	,		18843	0		0	False		,,,				2504	0.001						0.9998,0.0001997,.											3	Substitution - Missense(3)	prostate(2)|lung(1)											189	177	181					11																	55339695		2201	4296	6497	SO:0001583	missense	0			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.92G>A	11.37:g.55339695G>A	ENSP00000324913:p.Arg31His		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R31H	ENST00000314634.3	37	c.92	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519004	0.27211	.	.	ENSG00000181935	ENST00000314634	T	0.00438	7.42	4.98	3.85	0.44370	.	2.239510	0.01631	N	0.023546	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	B	0.25351	0.124	B	0.12837	0.008	T	0.47156	-0.9139	10	0.87932	D	0	.	9.0123	0.36148	0.0:0.0:0.1863:0.8137	.	31	Q8NGL9	OR4CG_HUMAN	H	31	ENSP00000324913:R31H	ENSP00000324913:R31H	R	+	2	0	OR4C16	55096271	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.003000	0.12901	0.915000	0.36847	-0.425000	0.05940	CGT	0	prints_GPCR_Rhodpsn		0.368	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	protein_coding	OTTHUMT00000382627.1	76	339	0	0.29	0	1	G	NM_001004701	rs374191202	G->A,T		55339695	1	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	34	142	43.55	33.94	27	74	SNP	0	A	A	55339695	G	A	55339695	3	1	98	1	0	0	0	0	1	0	0	0	11049	1145	40	1	94	1	OR4C16	11	55339695	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09		55339695	79666821	12	1953											
MAP4K2	5871	genome.wustl.edu	37	chr11	64563812	64563812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctgttgctgtagcctccGctgctcaaacaggcctggga	8	9	11	13	1	1	0	1	0	0	0	2	1	2	1	4	2	5	5	4	2	3	2			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr11:64563812G>A	ENST00000294066.2	-	24	1775	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	MAP4K2_ENST00000377350.3_Missense_Mutation_p.R554W	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	562	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TGTAGCCTCCGCTGCTCAAAC	0.637																																							0											0													87	88	88					11																	64563812		2201	4297	6498	SO:0001583	missense	0			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1684C>T	11.37:g.64563812G>A	ENSP00000294066:p.Arg562Trp		Q86VU3	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.R562W	ENST00000294066.2	37	c.1684	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868526	0.72065	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.05025	3.51;3.51	4.34	4.34	0.51931	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	L	0.50333	1.59	0.52501	D	0.99995	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.00219	-1.1907	10	0.66056	D	0.02	.	12.2627	0.54660	0.0:0.0:1.0:0.0	.	554;562	Q86VU3;Q12851	.;M4K2_HUMAN	W	562;554	ENSP00000294066:R562W;ENSP00000366567:R554W	ENSP00000294066:R562W	R	-	1	2	MAP4K2	64320388	0.885000	0.30320	0.996000	0.52242	0.954000	0.61252	1.188000	0.32102	2.261000	0.74972	0.456000	0.33151	CGG	0	pfam_Citron,smart_Citron		0.637	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	protein_coding	OTTHUMT00000105239.1	44	193	0	0.00	0	0	G	NM_004579	0	0		64563812	-1	no_errors	ENST00000294066	ensembl	human	known	74_37	missense	28	59	37.78	52.42	17	65	SNP	1	A	A	64563812	G	A	64563812	3	1	98	1	0	0	0	0	1	0	0	0	9260	1086	38	1	814	1	MAP4K2	11	64563812	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	9224117	64563812	70442704	13	1954											
TBCEL	219899	genome.wustl.edu	37	chr11	120957785	120957785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggagataaaatttacGtggaatccaaaacaaaataa	20	8	9	4	1	0	1	0	0	0	1	1	4	1	3	1	3	2	0	1	3	9	4			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr11:120957785G>A	ENST00000529397.1	+	8	1355	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	TBCEL_ENST00000422003.2_Missense_Mutation_p.V419M	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	419	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TAAAATTTACGTGGAATCCAA	0.408																																							0											0													46	46	46					11																	120957785		2203	4298	6501	SO:0001583	missense	0			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.1255G>A	11.37:g.120957785G>A	ENSP00000437184:p.Val419Met		Q0VAN6	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.V419M	ENST00000529397.1	37	c.1255	CCDS31692.1	11	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999484	0.93227	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533169	T;T	0.45276	0.9;0.9	5.69	5.69	0.88448	Ubiquitin supergroup (1);	0.054200	0.64402	D	0.000001	T	0.65964	0.2742	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.67757	-0.5588	10	0.87932	D	0	-12.0098	19.8262	0.96618	0.0:0.0:1.0:0.0	.	419	Q5QJ74	TBCEL_HUMAN	M	419;419;222	ENSP00000437184:V419M;ENSP00000403925:V419M	ENSP00000403925:V419M	V	+	1	0	TBCEL	120462995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.297000	0.78799	2.676000	0.91093	0.655000	0.94253	GTG	0	pfscan_Ubiquitin_supergroup		0.408	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	protein_coding	OTTHUMT00000387688.1	109	492	0	0.00	0	0	G	NM_152715	0	0		120957785	1	no_errors	ENST00000422003	ensembl	human	known	74_37	missense	56	185	42.42	39.94	42	123	SNP	1	A	A	120957785	G	A	120957785	3	1	98	1	0	0	0	0	1	0	0	0	15632	1145	40	1	1281	1	TBCEL	11	120957785	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	56393973	120957785	14048731	14	1955											
TMEM132D	121256	genome.wustl.edu	37	chr12	130185157	130185157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagaaggagacgtccgCgttgttgatgtggtaggtca	10	9	16	6	3	1	3	1	1	0	2	2	5	2	4	1	4	0	3	1	4	3	3			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr12:130185157C>T	ENST00000422113.2	-	2	492	c.166G>A	c.(166-168)Gcg>Acg	p.A56T	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	56					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)		GAGACGTCCGCGTTGTTGATG	0.552																																							0											0													93	70	77					12																	130185157		2203	4300	6503	SO:0001583	missense	0			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.166G>A	12.37:g.130185157C>T	ENSP00000408581:p.Ala56Thr		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.A56T	ENST00000422113.2	37	c.166	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323844	0.41096	.	.	ENSG00000151952	ENST00000422113	T	0.14640	2.49	5.33	4.44	0.53790	.	0.323515	0.26463	N	0.024223	T	0.27205	0.0667	L	0.59436	1.845	0.41431	D	0.987863	D	0.76494	0.999	P	0.56865	0.808	T	0.01621	-1.1310	9	.	.	.	-41.0693	14.1315	0.65257	0.0:0.9274:0.0:0.0726	.	56	Q14C87	T132D_HUMAN	T	56	ENSP00000408581:A56T	.	A	-	1	0	TMEM132D	128751110	1.000000	0.71417	0.029000	0.17559	0.824000	0.46624	3.952000	0.56691	1.228000	0.43614	0.555000	0.69702	GCG	0	NULL		0.552	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	protein_coding	OTTHUMT00000399592.1	54	233	0	0.00	0	0	C	NM_133448	0	0		130185157	-1	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	34	106	32	27.89	16	41	SNP	0.992	T	T	130185157	C	T	130185157	3	4	98	1	0	0	0	0	1	0	0	0	16044	768	27	1	3165	1	TMEM132D	12	130185157	Missense_Mutation	SNP	C	TCGA-ZB-A969-01A-11D-A428-09		130185157	3666738	15	1956											
ITGBL1	9358	genome.wustl.edu	37	chr13	102227854	102227854	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaattttgtgagtgtgaCgatagagaatgcatagacga	14	11	13	3	2	0	4	0	2	0	2	0	7	0	4	0	1	1	2	0	1	5	5			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr13:102227854C>T	ENST00000376180.3	+	4	762	c.543C>T	c.(541-543)gaC>gaT	p.D181D	ITGBL1_ENST00000376162.3_Silent_p.D88D|ITGBL1_ENST00000545560.2_Silent_p.D40D	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	181	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)					GTGAGTGTGACGATAGAGAAT	0.348																																							0											0													263	241	249					13																	102227854		2203	4300	6503	SO:0001819	synonymous_variant	0			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.543C>T	13.37:g.102227854C>T			A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	pfam_EGF_extracell,smart_EG-like_dom	p.D181	ENST00000376180.3	37	c.543	CCDS9499.1	13																																																																																			0	NULL		0.348	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	protein_coding	OTTHUMT00000045669.2	198	286	0	0.69	0	2	C	NM_004791	0	0		102227854	1	no_errors	ENST00000376180	ensembl	human	known	74_37	silent	76	127	43.7	36.32	59	73	SNP	0.997	T	T	102227854	C	T	102227854	2	4	98	1	0	0	0	0	0	0	0	1	7902	535	19	1		1	ITGBL1	13	102227854	Silent	SNP	C	TCGA-ZB-A969-01A-11D-A428-09		102227854	12942024	16	1957											
SAFB2	9667	genome.wustl.edu	37	chr19	5591761	5591761	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcggggctctactcacctGcccatcccggtggtctccca	5	9	9	18	2	3	0	1	0	2	0	6	0	4	0	4	4	2	1	4	4	1	1			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr19:5591761G>C	ENST00000252542.4	-	17	2656	c.2392C>G	c.(2392-2394)Cag>Gag	p.Q798E		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	798	Gly-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)		CTACTCACCTGCCCATCCCGG	0.592																																					Ovarian(127;888 1728 23957 44128 52668)		0											0													85	68	74					19																	5591761		2203	4300	6503	SO:0001583	missense	0			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.2392C>G	19.37:g.5591761G>C	ENSP00000252542:p.Gln798Glu		B4DKG3|Q8TB13	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.Q798E	ENST00000252542.4	37	c.2392	CCDS32879.1	19	.	.	.	.	.	.	.	.	.	.	G	10.69	1.419979	0.25552	.	.	ENSG00000130254	ENST00000252542	T	0.08896	3.04	4.11	4.11	0.48088	.	0.000000	0.46145	D	0.000318	T	0.10895	0.0266	M	0.66939	2.045	0.40414	D	0.97977	B	0.32918	0.39	B	0.29176	0.099	T	0.07790	-1.0754	10	0.37606	T	0.19	-34.2596	13.1121	0.59278	0.0:0.0:1.0:0.0	.	798	Q14151	SAFB2_HUMAN	E	798	ENSP00000252542:Q798E	ENSP00000252542:Q798E	Q	-	1	0	SAFB2	5542761	1.000000	0.71417	0.998000	0.56505	0.198000	0.23893	5.999000	0.70665	1.846000	0.53633	0.462000	0.41574	CAG	0	NULL		0.592	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAFB2	protein_coding	OTTHUMT00000451016.1	47	122	0	0.00	0	0	G	NM_014649	0	0		5591761	-1	no_errors	ENST00000252542	ensembl	human	known	74_37	missense	24	56	52	41.05	26	39	SNP	1	C	C	5591761	G	C	5591761	3	2	98	1	0	0	0	0	1	0	0	0	13807	1328	46	5	489	5	SAFB2	19	5591761	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09		5591761	53537222	17	1958											
DUS3L	56931	genome.wustl.edu	37	chr19	5787673	5787673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacggtgcggctcagcAgctcggcacacttggtcatg	6	8	12	15	3	2	0	2	0	0	0	4	0	3	0	2	4	3	4	2	4	0	1			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr19:5787673A>G	ENST00000309061.7	-	6	1235	c.1139T>C	c.(1138-1140)cTg>cCg	p.L380P	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.L138P|DUS3L_ENST00000590681.1_5'Flank|PRR22_ENST00000419421.2_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	380							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GCGGCTCAGCAGCTCGGCACA	0.632																																							0											0													162	140	147					19																	5787673		2203	4300	6503	SO:0001583	missense	0				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1139T>C	19.37:g.5787673A>G	ENSP00000311977:p.Leu380Pro		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.L380P	ENST00000309061.7	37	c.1139	CCDS32880.1	19	.	.	.	.	.	.	.	.	.	.	A	18.99	3.738955	0.69304	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.27720	1.65;1.65	3.61	3.61	0.41365	Aldolase-type TIM barrel (1);	0.000000	0.64402	U	0.000004	T	0.60117	0.2244	M	0.91920	3.255	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.77557	0.976;0.99	T	0.67612	-0.5626	10	0.87932	D	0	-30.566	10.3207	0.43764	1.0:0.0:0.0:0.0	.	138;380	Q96G46-3;Q96G46	.;DUS3L_HUMAN	P	380;138	ENSP00000311977:L380P;ENSP00000315558:L138P	ENSP00000311977:L380P	L	-	2	0	DUS3L	5738673	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.920000	0.92779	1.322000	0.45245	0.369000	0.22263	CTG	0	pfam_tRNA_hU_synthase		0.632	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	protein_coding	OTTHUMT00000451870.2	17	185	0	0.00	0	0	A	NM_020175	0	0		5787673	-1	no_errors	ENST00000309061	ensembl	human	known	74_37	missense	17	62	32	25.30	8	21	SNP	1	G	G	5787673	A	G	5787673	3	3	98	1	0	0	0	0	1	0	0	0	4807	188	7	4	845	4	DUS3L	19	5787673	Missense_Mutation	SNP	A	TCGA-ZB-A969-01A-11D-A428-09	195912	5787673	53341310	18	1959											
ZNF569	148266	genome.wustl.edu	37	chr19	37903959	37903959	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaagggtaagggatgcaAtttgagagaaggctttacca	15	9	13	4	0	0	3	0	2	0	1	0	5	0	4	1	3	2	3	1	3	6	4			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr19:37903959A>G	ENST00000316950.6	-	6	2158	c.1601T>C	c.(1600-1602)aTt>aCt	p.I534T	ZNF569_ENST00000392149.2_Missense_Mutation_p.I534T|ZNF569_ENST00000392150.2_Missense_Mutation_p.I375T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	534					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)			AAGGGATGCAATTTGAGAGAA	0.373																																							0											0													97	95	95					19																	37903959		2203	4300	6503	SO:0001583	missense	0			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.1601T>C	19.37:g.37903959A>G	ENSP00000325018:p.Ile534Thr		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.I534T	ENST00000316950.6	37	c.1601	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	A	8.313	0.822630	0.16678	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.37058	1.22;1.22	4.1	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33059	0.0850	N	0.08118	0	0.09310	N	1	B;P	0.50156	0.005;0.932	B;P	0.61397	0.002;0.888	T	0.25916	-1.0118	9	0.31617	T	0.26	.	10.2585	0.43412	0.5607:0.4393:0.0:0.0	.	375;534	Q17RR6;Q5MCW4	.;ZN569_HUMAN	T	534;190;375	ENSP00000325018:I534T;ENSP00000375993:I375T	ENSP00000325018:I534T	I	-	2	0	ZNF569	42595799	0.000000	0.05858	0.510000	0.27712	0.971000	0.66376	-1.507000	0.02268	0.683000	0.31428	0.533000	0.62120	ATT	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	protein_coding	OTTHUMT00000109594.2	98	257	0	0.00	0	0	A	NM_152484	0	0		37903959	-1	no_errors	ENST00000316950	ensembl	human	known	74_37	missense	39	109	38.1	40.22	24	74	SNP	0	G	G	37903959	A	G	37903959	3	3	98	1	0	0	0	0	1	0	0	0	17997	101	4	3	463	3	ZNF569	19	37903959	Missense_Mutation	SNP	A	TCGA-ZB-A969-01A-11D-A428-09	32116286	37903959	21225024	19	1960											
ZNF574	64763	genome.wustl.edu	37	chr19	42584756	42584756	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccaggccccacggcgCtttgagtgtggcacctgtgg	4	8	15	14	2	0	1	0	1	0	0	0	1	0	1	4	4	1	3	4	4	0	1			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr19:42584756C>G	ENST00000600245.1	+	2	2653	c.1998C>G	c.(1996-1998)cgC>cgG	p.R666R	ZNF574_ENST00000222339.7_Silent_p.R756R|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.R666R			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	666	Ala-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(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)				CCCCACGGCGCTTTGAGTGTG	0.697																																							0											0													31	36	34					19																	42584756		2197	4287	6484	SO:0001819	synonymous_variant	0			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.1998C>G	19.37:g.42584756C>G			Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R756	ENST00000600245.1	37	c.2268	CCDS12596.1	19																																																																																			0	NULL		0.697	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	protein_coding	OTTHUMT00000463458.1	18	36	0	0.00	0	0	C	NM_022752	0	0		42584756	1	no_errors	ENST00000222339	ensembl	human	known	74_37	silent	6	12	68.42	47.83	13	11	SNP	0.999	G	G	42584756	C	G	42584756	2	3	98	1	0	0	0	0	0	0	0	1	18003	784	28	5		5	ZNF574	19	42584756	Silent	SNP	C	TCGA-ZB-A969-01A-11D-A428-09	4680797	42584756	16544227	20	1961											
ATRN	8455	genome.wustl.edu	37	chr20	3452004	3452006	+	In_Frame_Del	DEL	GCG	GCG	-																															tgccctgtgaggccgaggccGcggcggcggcggcggcggtg																										TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr20:3452004_3452006delGCG	ENST00000262919.5	+	1	318_320	c.250_252delGCG	c.(250-252)gcgdel	p.A89del	ATRN_ENST00000446916.2_In_Frame_Del_p.A89del	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	89					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						ggccgaggccgcggcggcggcgg	0.734																																							0											0									,,	16,618		8,0,309					,,	3.7	1			1	19,1775		8,3,886	no	coding,coding,intron	ATRN	NM_139322.2,NM_139321.2,NM_001207047.1	,,	16,3,1195	A1A1,A1R,RR		1.0591,2.5237,1.4415	,,	,,		35,2393				SO:0001651	inframe_deletion	0			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.250_252delGCG	20.37:g.3452013_3452015delGCG	ENSP00000262919:p.Ala89del		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	In_Frame_Del	DEL	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.A87in_frame_del	ENST00000262919.5	37	c.250_252	CCDS13053.1	20																																																																																			0	NULL		0.734	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	protein_coding	OTTHUMT00000077740.2	10	11	0	0.00	0	0	GCG	NM_139321	0	0		3452006	1	no_errors	ENST00000262919	ensembl	human	known	74_37	in_frame_del	6	4	25	0.00	2	0	DEL	1.000:1.000:1.000	0	-	3452006	GCG	-	3452004	7	5	98	1	0	1	0	1	0	0	0	0	1206	1087	38	0	252	0	ATRN	20	3452004	In_Frame_Del	DEL	GCG	TCGA-ZB-A969-01A-11D-A428-09		3452004	59573516	21	1962											
ACSS1	84532	genome.wustl.edu	37	chr20	25004221	25004231	+	Frame_Shift_Del	DEL	CCACCACGCGC	CCACCACGCGC	-																															atccactattttcttcagctCcaccacgcgcccaccccgga																								rs201795021|rs112797917|rs147336539	byFrequency	TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	CCACCACGCGC	CCACCACGCGC	CCACCACGCGC	-	CCACCACGCGC	CCACCACGCGC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr20:25004221_25004231delCCACCACGCGC	ENST00000323482.4	-	4	757_767	c.678_688delGCGCGTGGTGG	c.(676-690)gggcgcgtggtggagfs	p.RVVE227fs	ACSS1_ENST00000432802.2_Frame_Shift_Del_p.RVVE227fs|ACSS1_ENST00000537502.1_Frame_Shift_Del_p.RVVE144fs|ACSS1_ENST00000542618.1_Frame_Shift_Del_p.RVVE106fs	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	227	Coenzyme A binding. {ECO:0000250}.				acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTCTTCAGCTCCACCACGCGCCCACCCCGGA	0.545																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.678_688delGCGCGTGGTGG	20.37:g.25004221_25004231delCCACCACGCGC	ENSP00000316924:p.Arg227fs		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Frame_Shift_Del	DEL	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	p.R227fs	ENST00000323482.4	37	c.688_678	CCDS13167.1	20																																																																																			0	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig		0.545	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	protein_coding	OTTHUMT00000078386.2	38	161	0	0.00	0	0	CCACCACGCGC	NM_032501	0	0		25004231	-1	no_errors	ENST00000323482	ensembl	human	known	74_37	frame_shift_del	42	73	8.7	17.05	4	15	DEL	0.988:0.060:0.058:0.015:0.198:0.204:0.106:0.008:0.991:0.993:0.961	0	-	25004231	CCACCACGCGC	-	25004221	7	5	98	1	0	1	0	1	0	0	0	0	188	864	30	0	1425	0	ACSS1	20	25004221	Frame_Shift_Del	DEL	CCACCACGCGC	TCGA-ZB-A969-01A-11D-A428-09	21552217	25004221	38021299	22	1963											
BACH1	571	genome.wustl.edu	37	chr21	30699208	30699208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagcctttgtcaggtacaGacgtccaagaaaaaacattt	17	9	7	8	1	1	2	1	0	0	2	2	2	2	2	2	1	3	1	2	1	7	3			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699208G>A	ENST00000399921.1	+	3	1306	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	BACH1_ENST00000286800.3_Missense_Mutation_p.D355N	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GTCAGGTACAGACGTCCAAGA	0.393																																							0											0													90	89	89					21																	30699208		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1063G>A	21.37:g.30699208G>A	ENSP00000382805:p.Asp355Asn		Q3MJE2|Q8NCI5	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.D355N	ENST00000399921.1	37	c.1063	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	6.406	0.442971	0.12164	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.72615	-0.67;-0.67	5.65	4.75	0.60458	.	0.526840	0.21151	N	0.079322	T	0.57080	0.2029	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.38714	-0.9648	10	0.27785	T	0.31	-9.4332	12.5052	0.55977	0.1292:0.0:0.8708:0.0	.	355	O14867	BACH1_HUMAN	N	355	ENSP00000286800:D355N;ENSP00000382805:D355N	ENSP00000286800:D355N	D	+	1	0	BACH1	29621079	0.009000	0.17119	0.021000	0.16686	0.148000	0.21650	1.412000	0.34714	2.941000	0.99782	0.655000	0.94253	GAC	0	NULL		0.393	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	35	480	0	0.00	0	0	G	NM_206866	0	0		30699208	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	25	188	48.98	58.95	24	270	SNP	0.008	A	A	30699208	G	A	30699208	3	1	98	1	0	0	0	0	1	0	0	0	1283	942	33	3	1069	3	BACH1	21	30699208	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09		30699208	17430687	23	1964			1	5		9	9	475	G		1.260386e-31
BACH1	571	genome.wustl.edu	37	chr21	30699241	30699241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaacatttggtgaaagtcagGatttacctttgaaatccgac	14	12	8	7	1	1	2	1	2	0	0	2	4	2	3	2	2	2	0	2	2	4	4	rs150792794		TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699241G>A	ENST00000399921.1	+	3	1339	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	BACH1_ENST00000286800.3_Missense_Mutation_p.D366N	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGAAAGTCAGGATTTACCTTT	0.428																																							0											0													78	76	76					21																	30699241		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1096G>A	21.37:g.30699241G>A	ENSP00000382805:p.Asp366Asn		Q3MJE2|Q8NCI5	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.D366N	ENST00000399921.1	37	c.1096	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	7.621	0.676890	0.14841	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.71934	-0.61;-0.61	5.32	4.44	0.53790	.	0.436377	0.25264	N	0.031936	T	0.49184	0.1542	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.26710	-1.0095	10	0.06236	T	0.91	-15.5001	9.8655	0.41140	0.0726:0.1392:0.7882:0.0	.	366	O14867	BACH1_HUMAN	N	366	ENSP00000286800:D366N;ENSP00000382805:D366N	ENSP00000286800:D366N	D	+	1	0	BACH1	29621112	0.992000	0.36948	0.190000	0.23270	0.210000	0.24377	2.469000	0.45110	1.631000	0.50456	0.655000	0.94253	GAT	0	NULL		0.428	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	33	461	0	0.00	0	0	G	NM_206866	0	0		30699241	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	25	183	45.65	57.74	21	250	SNP	0.016	A	A	30699241	G	A	30699241	3	1	98	1	0	0	0	0	1	0	0	0	1283	1174	41	3	1102	3	BACH1	21	30699241	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	33	30699241	17430654	24	1965			1	5		9	9	475	G		1.260386e-31
BACH1	571	genome.wustl.edu	37	chr21	30699274	30699274	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatccgacttgggcaccaggGaagatagtagtgttgcatct	11	10	12	8	1	1	1	0	0	1	1	2	3	2	2	2	2	1	4	2	2	4	4			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699274G>T	ENST00000399921.1	+	3	1372	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	BACH1_ENST00000286800.3_Nonsense_Mutation_p.E377*	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GGGCACCAGGGAAGATAGTAG	0.453																																							0											0													74	70	72					21																	30699274		2203	4300	6503	SO:0001587	stop_gained	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1129G>T	21.37:g.30699274G>T	ENSP00000382805:p.Glu377*		Q3MJE2|Q8NCI5	Nonsense_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.E377*	ENST00000399921.1	37	c.1129	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	37	6.111865	0.97291	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	.	.	.	5.65	4.77	0.60923	.	0.398299	0.26532	N	0.023855	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-15.4244	14.759	0.69590	0.0686:0.0:0.9314:0.0	.	.	.	.	X	377	.	ENSP00000286800:E377X	E	+	1	0	BACH1	29621145	1.000000	0.71417	0.999000	0.59377	0.752000	0.42762	3.102000	0.50291	1.634000	0.50500	0.655000	0.94253	GAA	0	NULL		0.453	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	32	440	0	0.00	0	0	G	NM_206866	0	0		30699274	1	no_errors	ENST00000286800	ensembl	human	known	74_37	nonsense	22	179	50	56.23	22	230	SNP	0.984	T	T	30699274	G	T	30699274	4	4	98	1	0	0	0	0	0	1	0	0	1283	1175	41	5	1135	5	BACH1	21	30699274	Nonsense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	33	30699274	17430621	25	1966			1	5		9	9	475	G		1.260386e-31
BACH1	571	genome.wustl.edu	37	chr21	30699313	30699313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctagtgataggagtagtgtgGagcgagaagtggcagaacac	13	7	16	5	1	0	3	0	1	0	2	0	6	0	5	0	3	2	2	0	3	5	3			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699313G>C	ENST00000399921.1	+	3	1411	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	BACH1_ENST00000286800.3_Missense_Mutation_p.E390Q	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GAGTAGTGTGGAGCGAGAAGT	0.468																																							0											0													73	68	70					21																	30699313		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1168G>C	21.37:g.30699313G>C	ENSP00000382805:p.Glu390Gln		Q3MJE2|Q8NCI5	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.E390Q	ENST00000399921.1	37	c.1168	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386830	0.82902	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.79653	-1.29;-1.29	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	D	0.86100	0.5852	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86463	0.1780	10	0.59425	D	0.04	-33.8485	19.3333	0.94303	0.0:0.0:1.0:0.0	.	390	O14867	BACH1_HUMAN	Q	390	ENSP00000286800:E390Q;ENSP00000382805:E390Q	ENSP00000286800:E390Q	E	+	1	0	BACH1	29621184	1.000000	0.71417	0.992000	0.48379	0.812000	0.45895	8.975000	0.93437	2.793000	0.96121	0.655000	0.94253	GAG	0	NULL		0.468	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	30	404	0	0.00	0	0	G	NM_206866	0	0		30699313	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	13	158	50	55.24	13	195	SNP	1	C	C	30699313	G	C	30699313	3	2	98	1	0	0	0	0	1	0	0	0	1283	1175	41	5	1174	5	BACH1	21	30699313	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	39	30699313	17430582	26	1967			1	5		9	9	475	G		1.260386e-31
BACH1	571	genome.wustl.edu	37	chr21	30699589	30699589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttggaaattggaaacgatGattatgtttcagaaccccag	14	12	9	6	1	1	2	1	1	0	1	1	5	1	4	2	2	2	1	2	2	4	4			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699589G>C	ENST00000399921.1	+	3	1687	c.1444G>C	c.(1444-1446)Gat>Cat	p.D482H	BACH1_ENST00000286800.3_Missense_Mutation_p.D482H	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGGAAACGATGATTATGTTTC	0.438																																							0											0													140	131	134					21																	30699589		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1444G>C	21.37:g.30699589G>C	ENSP00000382805:p.Asp482His		Q3MJE2|Q8NCI5	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.D482H	ENST00000399921.1	37	c.1444	CCDS13585.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.824617|2.824617	0.50739|0.50739	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000286800;ENST00000399921|ENST00000422809	T;T|.	0.72051|.	-0.62;-0.62|.	5.48|5.48	4.6|4.6	0.57074|0.57074	.|.	0.330952|.	0.28748|.	N|.	0.014261|.	T|.	0.41396|.	0.1157|.	L|L	0.36672|0.36672	1.1|1.1	0.18873|0.18873	N|N	0.999988|0.999988	P|.	0.50710|.	0.938|.	B|.	0.43360|.	0.417|.	T|.	0.26950|.	-1.0088|.	10|.	0.54805|.	T|.	0.06|.	-5.5341|-5.5341	14.0632|14.0632	0.64812|0.64812	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	482|.	O14867|.	BACH1_HUMAN|.	H|S	482|47	ENSP00000286800:D482H;ENSP00000382805:D482H|.	ENSP00000286800:D482H|.	D|X	+|+	1|2	0|2	BACH1|BACH1	29621460|29621460	0.990000|0.990000	0.36364|0.36364	0.006000|0.006000	0.13384|0.13384	0.989000|0.989000	0.77384|0.77384	3.919000|3.919000	0.56439|0.56439	1.310000|1.310000	0.45006|0.45006	0.655000|0.655000	0.94253|0.94253	GAT|TGA	0	NULL		0.438	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	79	457	0	0.00	0	0	G	NM_206866	0	0		30699589	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	30	181	55.22	54.41	37	216	SNP	0.073	C	C	30699589	G	C	30699589	3	2	98	1	0	0	0	0	1	0	0	0	1283	1290	45	5	1450	5	BACH1	21	30699589	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	276	30699589	17430306	27	1968			1	5		9	9	475	G		1.260386e-31
BACH1	571	genome.wustl.edu	37	chr21	30699613	30699613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtttcagaaccccagcaaGaaccttgcccatatgcttgt	11	11	7	12	0	1	2	1	0	0	2	1	2	1	2	4	0	5	3	4	0	4	4			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699613G>C	ENST00000399921.1	+	3	1711	c.1468G>C	c.(1468-1470)Gaa>Caa	p.E490Q	BACH1_ENST00000286800.3_Missense_Mutation_p.E490Q	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ACCCCAGCAAGAACCTTGCCC	0.443																																							0											0													139	129	132					21																	30699613		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1468G>C	21.37:g.30699613G>C	ENSP00000382805:p.Glu490Gln		Q3MJE2|Q8NCI5	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.E490Q	ENST00000399921.1	37	c.1468	CCDS13585.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.111445|4.111445	0.77210|0.77210	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000286800;ENST00000399921|ENST00000422809	T;T|.	0.72505|.	-0.66;-0.66|.	5.48|5.48	4.57|4.57	0.56435|0.56435	.|.	0.144593|.	0.47455|.	D|.	0.000221|.	T|T	0.57961|0.57961	0.2089|0.2089	L|L	0.36672|0.36672	1.1|1.1	0.39787|0.39787	D|D	0.972384|0.972384	P|.	0.51240|.	0.943|.	P|.	0.52109|.	0.69|.	T|T	0.55879|0.55879	-0.8071|-0.8071	10|5	0.15066|.	T|.	0.55|.	-18.9068|-18.9068	15.6943|15.6943	0.77481|0.77481	0.0:0.0:0.8627:0.1373|0.0:0.0:0.8627:0.1373	.|.	490|.	O14867|.	BACH1_HUMAN|.	Q|T	490|55	ENSP00000286800:E490Q;ENSP00000382805:E490Q|.	ENSP00000286800:E490Q|.	E|R	+|+	1|2	0|0	BACH1|BACH1	29621484|29621484	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.915000|0.915000	0.54546|0.54546	4.648000|4.648000	0.61425|0.61425	2.567000|2.567000	0.86603|0.86603	0.655000|0.655000	0.94253|0.94253	GAA|AGA	0	NULL		0.443	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	64	487	0	0.00	0	0	G	NM_206866	0	0		30699613	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	30	191	51.61	52.58	32	214	SNP	0.996	C	C	30699613	G	C	30699613	3	2	98	1	0	0	0	0	1	0	0	0	1283	943	33	5	1474	5	BACH1	21	30699613	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	24	30699613	17430282	28	1969			1	5		9	9	475	G		1.260386e-31
BACH1	571	genome.wustl.edu	37	chr21	30699649	30699649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtgtcattagcttgggaGacgactctgagacggacacc	9	10	12	10	2	2	2	1	1	1	2	2	6	2	3	1	2	1	1	1	2	1	3			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699649G>A	ENST00000399921.1	+	3	1747	c.1504G>A	c.(1504-1506)Gac>Aac	p.D502N	BACH1_ENST00000286800.3_Missense_Mutation_p.D502N	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TAGCTTGGGAGACGACTCTGA	0.428																																							0											0													125	113	117					21																	30699649		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1504G>A	21.37:g.30699649G>A	ENSP00000382805:p.Asp502Asn		Q3MJE2|Q8NCI5	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.D502N	ENST00000399921.1	37	c.1504	CCDS13585.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.670450|4.670450	0.88348|0.88348	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000286800;ENST00000399921|ENST00000422809	T;T|.	0.77620|.	-1.11;-1.11|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.298226|.	0.32852|.	N|.	0.005577|.	T|T	0.69637|0.69637	0.3133|0.3133	L|L	0.48642|0.48642	1.525|1.525	0.46396|0.46396	D|D	0.999026|0.999026	P|.	0.46706|.	0.883|.	B|.	0.44224|.	0.444|.	T|T	0.65483|0.65483	-0.6157|-0.6157	10|5	0.62326|.	D|.	0.03|.	-15.6909|-15.6909	19.3624|19.3624	0.94446|0.94446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	502|.	O14867|.	BACH1_HUMAN|.	N|K	502|67	ENSP00000286800:D502N;ENSP00000382805:D502N|.	ENSP00000286800:D502N|.	D|R	+|+	1|2	0|0	BACH1|BACH1	29621520|29621520	1.000000|1.000000	0.71417|0.71417	0.348000|0.348000	0.25681|0.25681	0.899000|0.899000	0.52679|0.52679	9.434000|9.434000	0.97515|0.97515	2.567000|2.567000	0.86603|0.86603	0.655000|0.655000	0.94253|0.94253	GAC|AGA	0	NULL		0.428	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	63	472	0	0.21	0	1	G	NM_206866	0	0		30699649	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	27	177	51.79	53.91	29	207	SNP	0.995	A	A	30699649	G	A	30699649	3	1	98	1	0	0	0	0	1	0	0	0	1283	942	33	3	1510	3	BACH1	21	30699649	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	36	30699649	17430246	29	1970			1	5		9	9	475	G		1.260386e-31
BACH1	571	genome.wustl.edu	37	chr21	30699664	30699664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgggagacgactctgagacgGacaccgaaggagacagtgaa	14	4	15	8	3	1	4	0	2	1	3	1	10	1	5	1	3	0	0	1	3	2	0			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699664G>C	ENST00000399921.1	+	3	1762	c.1519G>C	c.(1519-1521)Gac>Cac	p.D507H	BACH1_ENST00000286800.3_Missense_Mutation_p.D507H	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CTCTGAGACGGACACCGAAGG	0.418																																							0											0													113	102	106					21																	30699664		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1519G>C	21.37:g.30699664G>C	ENSP00000382805:p.Asp507His		Q3MJE2|Q8NCI5	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.D507H	ENST00000399921.1	37	c.1519	CCDS13585.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.067086|4.067086	0.76301|0.76301	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000286800;ENST00000399921|ENST00000422809	T;T|.	0.73681|.	-0.77;-0.77|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73690|0.73690	0.3619|0.3619	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.68922|0.68922	-0.5281|-0.5281	10|5	0.36615|.	T|.	0.2|.	-25.8514|-25.8514	20.2019|20.2019	0.98263|0.98263	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	507|.	O14867|.	BACH1_HUMAN|.	H|A	507|72	ENSP00000286800:D507H;ENSP00000382805:D507H|.	ENSP00000286800:D507H|.	D|G	+|+	1|2	0|0	BACH1|BACH1	29621535|29621535	1.000000|1.000000	0.71417|0.71417	0.822000|0.822000	0.32727|0.32727	0.873000|0.873000	0.50193|0.50193	6.290000|6.290000	0.72712|0.72712	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GAC|GGA	0	NULL		0.418	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	62	436	0	0.00	0	0	G	NM_206866	0	0		30699664	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	25	169	51.85	54.81	28	205	SNP	1	C	C	30699664	G	C	30699664	3	2	98	1	0	0	0	0	1	0	0	0	1283	1174	41	5	1525	5	BACH1	21	30699664	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	15	30699664	17430231	30	1971			1	5		9	9	475	G		1.260386e-31
BACH1	571	genome.wustl.edu	37	chr21	30699682	30699682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggacaccgaaggagacagtGaatcctgttcagccagagaa	14	5	12	10	2	1	3	1	1	0	2	2	7	2	4	3	2	1	1	3	2	3	1			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699682G>A	ENST00000399921.1	+	3	1780	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	BACH1_ENST00000286800.3_Missense_Mutation_p.E513K	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AGGAGACAGTGAATCCTGTTC	0.423																																							0											0													100	90	93					21																	30699682		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1537G>A	21.37:g.30699682G>A	ENSP00000382805:p.Glu513Lys		Q3MJE2|Q8NCI5	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.E513K	ENST00000399921.1	37	c.1537	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772077	0.90108	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.77098	-1.07;-1.07	5.86	5.86	0.93980	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	L	0.49350	1.555	0.48341	D	0.999634	D	0.62365	0.991	P	0.57101	0.813	D	0.84356	0.0535	10	0.72032	D	0.01	-28.3137	20.2019	0.98263	0.0:0.0:1.0:0.0	.	513	O14867	BACH1_HUMAN	K	513	ENSP00000286800:E513K;ENSP00000382805:E513K	ENSP00000286800:E513K	E	+	1	0	BACH1	29621553	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	7.571000	0.82399	2.776000	0.95493	0.655000	0.94253	GAA	0	superfamily_TF_DNA-bd		0.423	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	62	415	0	0.24	0	1	G	NM_206866	0	0		30699682	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	22	159	59.26	56.52	32	208	SNP	1	A	A	30699682	G	A	30699682	3	1	98	1	0	0	0	0	1	0	0	0	1283	1291	45	3	1543	3	BACH1	21	30699682	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	18	30699682	17430213	31	1972			1	5		9	9	475	G		1.260386e-31
KRTAP10-6	386674	genome.wustl.edu	37	chr21	46011494	46011494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaggcggtgcagcaaGccggctggcagctagactgc	9	4	17	11	2	0	1	0	0	0	1	0	2	0	2	1	5	6	6	1	5	2	1			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:46011494G>T	ENST00000400368.1	-	1	892	c.872C>A	c.(871-873)gCt>gAt	p.A291D	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	291	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGTGCAGCAAGCCGGCTGGCA	0.672																																							0											0													92	98	96					21																	46011494		2203	4300	6503	SO:0001583	missense	0			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.872C>A	21.37:g.46011494G>T	ENSP00000383219:p.Ala291Asp			Missense_Mutation	SNP	NULL	p.A291D	ENST00000400368.1	37	c.872	CCDS42959.1	21	.	.	.	.	.	.	.	.	.	.	g	8.985	0.976176	0.18736	.	.	ENSG00000188155	ENST00000400368	T	0.01406	4.93	2.59	-0.835	0.10775	.	.	.	.	.	T	0.02083	0.0065	L	0.58669	1.825	0.09310	N	1	B	0.33266	0.404	B	0.38194	0.267	T	0.41520	-0.9504	9	0.56958	D	0.05	.	3.522	0.07745	0.3877:0.2016:0.4107:0.0	.	291	P60371	KR106_HUMAN	D	291	ENSP00000383219:A291D	ENSP00000383219:A291D	A	-	2	0	KRTAP10-6	44835922	.	.	0.000000	0.03702	0.050000	0.14768	.	.	-0.350000	0.08262	0.194000	0.17425	GCT	0	NULL		0.672	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-6	protein_coding	OTTHUMT00000128037.1	67	10	0	0.00	0	0	G	NM_198688	0	0		46011494	-1	no_errors	ENST00000400368	ensembl	human	known	74_37	missense	37	5	7.5	0.00	3	0	SNP	0	T	T	46011494	G	T	46011494	3	4	98	1	0	0	0	0	1	0	0	0	8513	971	34	5	229	5	KRTAP10-6	21	46011494	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	15311812	46011494	2118401	32	1973											
NLGN4X	57502	genome.wustl.edu	37	chrX	5947401	5947401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgccgtcaatcatgttgCcggtgccctccatgtaagat	7	12	10	12	2	2	1	2	0	0	1	3	1	3	1	4	1	4	3	4	1	2	2			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chrX:5947401C>A	ENST00000381095.3	-	3	1172	c.545G>T	c.(544-546)gGc>gTc	p.G182V	NLGN4X_ENST00000381092.1_Missense_Mutation_p.G182V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G182V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G182V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G202V	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	182					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						AATCATGTTGCCGGTGCCCTC	0.443																																							0											0													149	112	124					X																	5947401		2203	4300	6503	SO:0001583	missense	0			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.545G>T	X.37:g.5947401C>A	ENSP00000370485:p.Gly182Val		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.G202V	ENST00000381095.3	37	c.605	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492006	0.44352	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	4.01	3.13	0.36017	Carboxylesterase, type B (1);	.	.	.	.	D	0.88665	0.6498	H	0.97240	3.965	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.996	D;D;D	0.91635	0.93;0.999;0.966	D	0.90358	0.4371	9	0.87932	D	0	.	12.1334	0.53957	0.0:0.8301:0.1698:0.0	.	202;182;202	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	V	182;202;182;182;182	ENSP00000370485:G182V;ENSP00000370483:G202V;ENSP00000275857:G182V;ENSP00000370482:G182V;ENSP00000439203:G182V	ENSP00000275857:G182V	G	-	2	0	NLGN4X	5957401	1.000000	0.71417	0.003000	0.11579	0.832000	0.47134	6.722000	0.74735	0.526000	0.28541	0.538000	0.68166	GGC	0	pfam_CarbesteraseB,pfam_AB_hydrolase_3		0.443	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	protein_coding	OTTHUMT00000055673.1	107	284	0	0.00	0	0	C	NM_020742	0	0		5947401	-1	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	74	117	33.93	37.77	38	71	SNP	0.993	A	A	5947401	C	A	5947401	3	1	98	1	0	0	0	0	1	0	0	0	10464	739	26	5	1921	5	NLGN4X	23	5947401	Missense_Mutation	SNP	C	TCGA-ZB-A969-01A-11D-A428-09		5947401	149323159	33	1974											
STARD8	9754	genome.wustl.edu	37	chrX	67943847	67943847	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcccagtccctggatccGgaacaacctgtgccagagtc	8	8	10	15	1	1	1	0	0	1	1	5	3	3	3	5	2	3	0	5	2	2	0	rs373631827		TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chrX:67943847G>A	ENST00000252336.6	+	13	3210	c.2838G>A	c.(2836-2838)ccG>ccA	p.P946P	STARD8_ENST00000374597.3_Silent_p.P946P|STARD8_ENST00000374599.3_Silent_p.P1026P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	946	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				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						CCCTGGATCCGGAACAACCTG	0.602																																							0											0								G	,,	0,3835		0,0,1632,571	128	83	98		3078,2838,2838	-2.7	0.4	X		98	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	STARD8	NM_001142503.2,NM_001142504.2,NM_014725.4	,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,	1026/1104,946/1024,946/1024	67943847	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			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.2838G>A	X.37:g.67943847G>A			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.P1026	ENST00000252336.6	37	c.3078	CCDS14390.1	X																																																																																			0	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom		0.602	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	protein_coding	OTTHUMT00000057026.2	46	189	0	0.53	0	1	G	NM_014725	rs373631827	G->A		67943847	1	no_errors	ENST00000374599	ensembl	human	known	74_37	silent	27	82	48.08	36.15	25	47	SNP	0.983	A	A	67943847	G	A	67943847	2	1	98	1	0	0	0	0	0	0	0	1	15262	1103	39	2		2	STARD8	23	67943847	Silent	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	61996446	67943847	87326713	34	1975											
GPR119	139760	genome.wustl.edu	37	chrX	129519407	129519407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggatcactccaaatgaGaaagatgattccatgtctcg	14	9	9	9	1	2	3	1	2	1	2	5	5	4	4	2	1	0	1	2	1	3	1			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chrX:129519407G>T	ENST00000276218.2	-	1	104	c.15C>A	c.(13-15)ttC>ttA	p.F5L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	5					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						CTCCAAATGAGAAAGATGATT	0.517																																							0											0													207	192	197					X																	129519407		2203	4300	6503	SO:0001583	missense	0			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.15C>A	X.37:g.129519407G>T	ENSP00000276218:p.Phe5Leu		Q495H7|Q4VBN3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F5L	ENST00000276218.2	37	c.15	CCDS14625.1	X	.	.	.	.	.	.	.	.	.	.	G	7.690	0.690914	0.15039	.	.	ENSG00000147262	ENST00000276218	T	0.59364	0.27	5.3	2.52	0.30459	.	0.593745	0.17186	N	0.183712	T	0.35480	0.0933	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18903	-1.0322	10	0.35671	T	0.21	-2.297	8.5216	0.33279	0.2729:0.0:0.7271:0.0	.	5	Q8TDV5	GP119_HUMAN	L	5	ENSP00000276218:F5L	ENSP00000276218:F5L	F	-	3	2	GPR119	129347088	0.327000	0.24678	0.060000	0.19600	0.852000	0.48524	0.313000	0.19415	0.605000	0.29947	0.513000	0.50165	TTC	0	NULL		0.517	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR119	protein_coding	OTTHUMT00000058270.1	47	291	0	0.00	0	0	G	NM_178471	0	0		129519407	-1	no_errors	ENST00000276218	ensembl	human	known	74_37	missense	26	148	46	38.59	23	93	SNP	0.127	T	T	129519407	G	T	129519407	3	4	98	1	0	0	0	0	1	0	0	0	6634	933	33	5	996	5	GPR119	23	129519407	Missense_Mutation	SNP	G	TCGA-ZB-A969-01A-11D-A428-09	61575560	129519407	25751153	35	1976											
SCNN1D	6339	genome.wustl.edu	37	chr1	1222276	1222276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgtcccccgccacgagcCccccttccacctggaccggg	5	5	9	22	3	0	0	0	0	0	0	2	2	2	1	9	2	1	0	9	2	0	1	rs543238689		TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chr1:1222276C>T	ENST00000338555.2	+	5	1692	c.548C>T	c.(547-549)cCc>cTc	p.P183L	SCNN1D_ENST00000379116.5_Missense_Mutation_p.P347L|SCNN1D_ENST00000325425.8_Missense_Mutation_p.P249L|SCNN1D_ENST00000400928.3_Missense_Mutation_p.P183L			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	183					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)	CGCCACGAGCCCCCCTTCCAC	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		13877	0		0	False		,,,				2504	0						0.9998,0.0001997											0													34	44	40					1																	1222276		2193	4294	6487	SO:0001583	missense	0			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.548C>T	1.37:g.1222276C>T	ENSP00000339504:p.Pro183Leu		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.P347L	ENST00000338555.2	37	c.1040		1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746181	0.30955	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.69685	-0.42;-0.37;-0.42;-0.37	4.38	-0.112	0.13572	.	2202.840000	0.00166	N	0.000000	T	0.68504	0.3008	L	0.52905	1.665	0.09310	N	1	P;P	0.48230	0.891;0.907	P;B	0.48677	0.586;0.444	T	0.55464	-0.8137	10	0.59425	D	0.04	.	6.0309	0.19679	0.0:0.5901:0.1384:0.2715	.	183;347	P51172;A6NNF7	SCNND_HUMAN;.	L	214;347;183;249;183	ENSP00000368411:P347L;ENSP00000339504:P183L;ENSP00000321594:P249L;ENSP00000383717:P183L	ENSP00000321594:P249L	P	+	2	0	SCNN1D	1212139	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.525000	0.06214	0.282000	0.22254	0.313000	0.20887	CCC	0	pfam_Na+channel_ASC,tigrfam_EnaC		0.657	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	protein_coding	OTTHUMT00000005802.2	43	132	0	0.00	0	0	C	NM_002978	rs543238689	C->T		1222276	1	no_errors	ENST00000379116	ensembl	human	known	74_37	missense	28	96	24.32	12.73	9	14	SNP	0	T	T	1222276	C	T	1222276	3	4	99	1	0	0	0	0	1	0	0	0	13929	623	22	3	764	3	SCNN1D	1	1222276	Missense_Mutation	SNP	C	TCGA-ZB-A96A-01A-11D-A428-09		1222276	248028345	1	1977											
FOXE3	2301	genome.wustl.edu	37	chr1	47882166	47882168	+	In_Frame_Del	DEL	GGC	GGC	-																															cacgcccgcgcccggcccggGgcggcggcggcggcggcccc																										TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chr1:47882166_47882168delGGC	ENST00000335071.2	+	1	423_425	c.179_181delGGC	c.(178-183)gggcgg>ggg	p.R65del		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	65	Poly-Arg.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		cccggcccggggcggcggcggcg	0.823																																							0											0										4,216		2,0,108						2.6	0			1	26,1088		7,12,538	no	coding	FOXE3	NM_012186.2		9,12,646	A1A1,A1R,RR		2.3339,1.8182,2.2489				30,1304				SO:0001651	inframe_deletion	0			AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"Forkhead boxes"	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.179_181delGGC	1.37:g.47882175_47882177delGGC	ENSP00000334472:p.Arg65del		Q5SVY9|Q9NQV9	In_Frame_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R64in_frame_del	ENST00000335071.2	37	c.179_181	CCDS550.1	1																																																																																			0	NULL		0.823	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXE3	protein_coding	OTTHUMT00000021836.1	8	0	0	0.00	0	0	GGC	NM_012186	0	0		47882168	1	no_errors	ENST00000335071	ensembl	human	known	74_37	in_frame_del	4	0	33.33	0.00	2	0	DEL	0.991:0.856:0.786	0	-	47882168	GGC	-	47882166	7	5	99	1	0	1	0	1	0	0	0	0	6004	1232	43	0	181	0	FOXE3	1	47882166	In_Frame_Del	DEL	GGC	TCGA-ZB-A96A-01A-11D-A428-09	46659890	47882166	201368455	2	1978											
TRAK1	22906	genome.wustl.edu	37	chr3	42251577	42251578	+	Intron	INS	-	-	GGAGGA																															caggagccgccagcggccacINSggaggaggaggaggaggagg																								rs10634555|rs35624871		TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	-	-	-	GGAGGA	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	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)		0											1	Deletion - In frame(1)	kidney(1)																																								SO:0001627	intron_variant	0				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			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																																																																																			0	NULL		0.629	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	protein_coding	OTTHUMT00000343413.1	14	6	0	0.00	0	0	0	NM_014965	0	0		42251578	1	no_errors	ENST00000341421	ensembl	human	known	74_37	in_frame_ins	12	3	14.29	40.00	2	2	INS	0.010:0.044	GGAGGA	GGAGGA	42251578	-	GGAGGA	42251577	6	5	99	0	1	1	1	0	0	0	0	0	16446	536	19	0		0	TRAK1	3	42251577	Intron	INS	-	TCGA-ZB-A96A-01A-11D-A428-09		42251577	155770853	3	1979											
SENP6	26054	genome.wustl.edu	37	chr6	76343306	76343306	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttacagttaaatcgtCgatctgaaattgttgctaat	11	19	6	5	2	1	1	0	1	1	0	3	2	1	1	0	0	2	3	0	0	5	8			TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chr6:76343306C>A	ENST00000447266.2	+	4	695	c.217C>A	c.(217-219)Cga>Aga	p.R73R	SENP6_ENST00000370010.2_Silent_p.R73R|SENP6_ENST00000370014.3_Silent_p.R73R|SENP6_ENST00000327284.8_Silent_p.R73R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	73					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)			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)				GTTAAATCGTCGATCTGAAAT	0.299																																							0											0													80	78	78					6																	76343306		1811	4066	5877	SO:0001819	synonymous_variant	0				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.217C>A	6.37:g.76343306C>A			A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.R73	ENST00000447266.2	37	c.217	CCDS47454.1	6																																																																																			0	NULL		0.299	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	protein_coding	OTTHUMT00000041272.2	118	276	0	0.36	0	1	C	NM_015571	0	0		76343306	1	no_errors	ENST00000370014	ensembl	human	known	74_37	silent	79	236	7.06	10.27	6	27	SNP	0.996	A	A	76343306	C	A	76343306	2	1	99	1	0	0	0	0	0	0	0	1	14050	876	31	5		5	SENP6	6	76343306	Silent	SNP	C	TCGA-ZB-A96A-01A-11D-A428-09		76343306	94771761	4	1980											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	390	164	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	272	129	10.23	12.84	31	19	SNP	1	A	A	74146970	T	A	74146970	3	1	99	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A96A-01A-11D-A428-09		74146970	84991693	5	1981											
SETD1A	9739	genome.wustl.edu	37	chr16	30972682	30972682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttcctgaaggatatgtGccgtaagtacggtgaggtgg	9	10	15	7	2	0	2	0	2	0	0	1	4	1	3	3	4	2	2	3	4	4	4			TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chr16:30972682G>T	ENST00000262519.8	+	4	1027	c.341G>T	c.(340-342)tGc>tTc	p.C114F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	114	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						AAGGATATGTGCCGTAAGTAC	0.567																																							0											0													133	104	114					16																	30972682		2197	4300	6497	SO:0001583	missense	0			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.341G>T	16.37:g.30972682G>T	ENSP00000262519:p.Cys114Phe		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.C114F	ENST00000262519.8	37	c.341	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661593	0.67700	.	.	ENSG00000099381	ENST00000262519;ENST00000452917	T;T	0.15487	2.42;2.42	5.36	5.36	0.76844	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01532	-1.1331	10	0.41790	T	0.15	.	17.8447	0.88727	0.0:0.0:1.0:0.0	.	114	O15047	SET1A_HUMAN	F	114	ENSP00000262519:C114F;ENSP00000391408:C114F	ENSP00000262519:C114F	C	+	2	0	SETD1A	30880183	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.517000	0.84864	0.591000	0.81541	TGC	0	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.567	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	protein_coding	OTTHUMT00000318244.2	45	176	0	0.56	0	1	G	NM_014712	0	0		30972682	1	no_errors	ENST00000262519	ensembl	human	known	74_37	missense	41	154	8.89	7.23	4	12	SNP	1	T	T	30972682	G	T	30972682	3	4	99	1	0	0	0	0	1	0	0	0	14130	1319	46	5	351	5	SETD1A	16	30972682	Missense_Mutation	SNP	G	TCGA-ZB-A96A-01A-11D-A428-09		30972682	59382071	6	1982											
ZNF532	55205	genome.wustl.edu	37	chr18	56651490	56651490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttaaaggaacctcagcCagtgtccaagcaaaatgggg	15	6	11	9	0	1	0	1	0	0	0	2	1	2	1	3	3	3	2	3	3	7	1			TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chr18:56651490C>T	ENST00000336078.4	+	11	4474	c.3698C>T	c.(3697-3699)cCa>cTa	p.P1233L	ZNF532_ENST00000591083.1_Missense_Mutation_p.P1233L|ZNF532_ENST00000591808.1_Missense_Mutation_p.P1233L|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591230.1_Missense_Mutation_p.P1233L|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1233L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1233					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						GAACCTCAGCCAGTGTCCAAG	0.547																																							0											0													34	35	35					18																	56651490		2202	4288	6490	SO:0001583	missense	0			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.3698C>T	18.37:g.56651490C>T	ENSP00000338217:p.Pro1233Leu		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1233L	ENST00000336078.4	37	c.3698	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	c	17.98	3.521725	0.64747	.	.	ENSG00000074657	ENST00000336078	T	0.01527	4.8	5.83	5.83	0.93111	.	0.108849	0.64402	D	0.000007	T	0.03178	0.0093	N	0.11427	0.14	0.53688	D	0.999972	P;D	0.65815	0.937;0.995	P;P	0.54590	0.585;0.756	T	0.68784	-0.5317	10	0.41790	T	0.15	-3.5668	19.7233	0.96151	0.0:1.0:0.0:0.0	.	1233;1233	B3KXW2;Q9HCE3	.;ZN532_HUMAN	L	1233	ENSP00000338217:P1233L	ENSP00000338217:P1233L	P	+	2	0	ZNF532	54802470	1.000000	0.71417	0.967000	0.41034	0.860000	0.49131	4.793000	0.62474	2.766000	0.95052	0.556000	0.70494	CCA	0	NULL		0.547	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	protein_coding	OTTHUMT00000256130.1	63	0	0	0.00	0	0	C	NM_018181	0	0		56651490	1	no_errors	ENST00000336078	ensembl	human	known	74_37	missense	53	0	7.02	0.00	4	0	SNP	0.998	T	T	56651490	C	T	56651490	3	4	99	1	0	0	0	0	1	0	0	0	17969	594	21	3	3728	3	ZNF532	18	56651490	Missense_Mutation	SNP	C	TCGA-ZB-A96A-01A-11D-A428-09		56651490	21425758	7	1983											
ZNF177	7730	genome.wustl.edu	37	chr19	9489731	9489731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatctatacaaagatgtgAtgctggagaactttaggaac	17	10	9	5	0	1	3	0	1	1	2	1	5	1	4	0	2	4	1	0	2	8	4			TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chr19:9489731A>G	ENST00000589262.1	+	3	193	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000446085.4_Missense_Mutation_p.M43V|ZNF177_ENST00000343499.4_Missense_Mutation_p.M43V|ZNF177_ENST00000602856.1_Missense_Mutation_p.M43V|ZNF177_ENST00000434737.2_Missense_Mutation_p.M43V|ZNF177_ENST00000602738.1_Missense_Mutation_p.M43V|ZNF177_ENST00000541595.2_Missense_Mutation_p.M43V|ZNF177_ENST00000590616.1_Missense_Mutation_p.M43V	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)	p.M43L(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CAAAGATGTGATGCTGGAGAA	0.428																																							0											2	Substitution - Missense(2)	prostate(2)											109	98	101					19																	9489731		2203	4300	6503	SO:0001583	missense	0			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.127A>G	19.37:g.9489731A>G	ENSP00000468531:p.Met43Val		B4DY57|E9PDG0|I3L0I4|Q96ER2	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.M43V	ENST00000589262.1	37	c.127	CCDS54214.1	19	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720931	0.30503	.	.	ENSG00000188629	ENST00000541595;ENST00000446085;ENST00000343499;ENST00000434737	T;T;T;T	0.03065	4.06;4.06;4.06;4.06	2.74	2.74	0.32292	Krueppel-associated box (4);	.	.	.	.	T	0.22166	0.0534	H	0.95079	3.62	0.23916	N	0.996479	D	0.53885	0.963	D	0.67231	0.95	T	0.32851	-0.9891	8	0.87932	D	0	.	7.3506	0.26689	1.0:0.0:0.0:0.0	.	43	Q13360	ZN177_HUMAN	V	43	ENSP00000445323:M43V;ENSP00000413568:M43V;ENSP00000341497:M43V;ENSP00000415070:M43V	ENSP00000341497:M43V	M	+	1	0	ZNF177	9350731	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.495000	0.60353	1.509000	0.48786	0.383000	0.25322	ATG	0	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.428	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF177	protein_coding	OTTHUMT00000449028.1	64	296	0	0.00	0	0	A	NM_003451	0	0		9489731	1	no_errors	ENST00000434737	ensembl	human	known	74_37	missense	41	219	24.07	9.88	13	24	SNP	1	G	G	9489731	A	G	9489731	3	3	99	1	0	0	0	0	1	0	0	0	17743	333	12	3	133	3	ZNF177	19	9489731	Missense_Mutation	SNP	A	TCGA-ZB-A96A-01A-11D-A428-09		9489731	49639252	8	1984											
NKPD1	284353	genome.wustl.edu	37	chr19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-																															gtggggcccccaaagtccccCtgctgctgctgctgctgcag																										TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chr19:45655769_45655771delCTG	ENST00000438936.2	-	3	1469_1471	c.1258_1260delCAG	c.(1258-1260)cagdel	p.Q420del	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000317951.4_In_Frame_Del_p.Q642del			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	420	Poly-Gln.					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)		CAAAGTCCCCCTGCTGCTGCTGC	0.704																																							0											0										80,72,3002		15,0,50,16,40,1456						2.5	0.9			7	8,143,6913		1,0,6,18,107,3400	no	codingComplex	NKPD1	NM_198478.3		16,0,56,34,147,4856	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1376,4.8193,2.9654				88,215,9915				SO:0001651	inframe_deletion	0			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.1258_1260delCAG	19.37:g.45655778_45655780delCTG	ENSP00000401739:p.Gln420del		B7ZLG6|D6RH15|Q8N2A2	In_Frame_Del	DEL	pfam_KAP_NTPase	p.Q642in_frame_del	ENST00000438936.2	37	c.1926_1924		19																																																																																			0	NULL		0.704	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	protein_coding	OTTHUMT00000360950.2	35	28	0	0.00	0	0	CTG	NM_198478	0	0		45655771	-1	no_errors	ENST00000317951	ensembl	human	known	74_37	in_frame_del	17	10	10.53	0.00	2	0	DEL	0.910:0.925:0.950	0	-	45655771	CTG	-	45655769	7	5	99	1	0	1	0	1	0	0	0	0	10446	680	24	0	576	0	NKPD1	19	45655769	In_Frame_Del	DEL	CTG	TCGA-ZB-A96A-01A-11D-A428-09	36166038	45655769	13473214	9	1985											
SCO2	9997	genome.wustl.edu	37	chr22	50962528	50962528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgtgatccagcaggtGgaagtcgccctggcccacag	7	7	13	14	1	1	1	0	1	1	0	3	2	2	2	4	3	1	1	4	3	1	0			TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chr22:50962528G>A	ENST00000543927.1	-	2	519	c.313C>T	c.(313-315)Cac>Tac	p.H105Y	SCO2_ENST00000252785.3_Missense_Mutation_p.H105Y|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_Missense_Mutation_p.H105Y|SCO2_ENST00000395693.3_Missense_Mutation_p.H105Y	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	105	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCAGCAGGTGGAAGTCGCCC	0.652																																							0											0													29	32	31					22																	50962528		2203	4300	6503	SO:0001583	missense	0			AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"Mitochondrial respiratory chain complex assembly factors"	10604	protein-coding gene	gene with protein product		604272	"SCO (cytochrome oxidase deficient, yeast) homolog 2", "SCO cytochrome oxidase deficient homolog 2 (yeast)", "myopia 6"	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.313C>T	22.37:g.50962528G>A	ENSP00000444433:p.His105Tyr		Q3T1B5|Q9UK87	Missense_Mutation	SNP	pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.H105Y	ENST00000543927.1	37	c.313	CCDS14095.1	22	.	.	.	.	.	.	.	.	.	.	G	7.880	0.730125	0.15507	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785;ENST00000439934;ENST00000423348	D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	4.95	-1.78	0.07957	Thioredoxin-like fold (3);	0.495228	0.20813	N	0.085218	D	0.88804	0.6536	L	0.39898	1.24	0.27699	N	0.945847	B	0.29955	0.263	B	0.38194	0.267	T	0.82182	-0.0584	10	0.72032	D	0.01	-14.4871	6.8349	0.23931	0.2273:0.0:0.3611:0.4116	.	105	O43819	SCO2_HUMAN	Y	105	ENSP00000379046:H105Y;ENSP00000444433:H105Y;ENSP00000444242:H105Y;ENSP00000252785:H105Y;ENSP00000415642:H105Y;ENSP00000403570:H105Y	ENSP00000252785:H105Y	H	-	1	0	SCO2	49309394	0.000000	0.05858	0.311000	0.25182	0.095000	0.18619	-1.227000	0.02950	-0.246000	0.09611	-1.461000	0.01025	CAC	0	pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.652	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO2	protein_coding	OTTHUMT00000317091.1	28	98	0	0.00	0	0	G	NM_005138	0	0		50962528	-1	no_errors	ENST00000252785	ensembl	human	known	74_37	missense	14	80	12.5	11.11	2	10	SNP	0.903	A	A	50962528	G	A	50962528	3	1	99	1	0	0	0	0	1	0	0	0	13932	1348	47	3	491	3	SCO2	22	50962528	Missense_Mutation	SNP	G	TCGA-ZB-A96A-01A-11D-A428-09		50962528	342038	10	1986											
TYMP	1890	genome.wustl.edu	37	chr22	50968040	50968040	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagctccgggagctgcttGggctctggcgaagggtcggg	5	8	18	10	3	2	0	1	0	1	0	4	2	3	1	1	5	3	4	1	5	1	1			TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chr22:50968040G>C	ENST00000252029.3	-	2	261	c.99C>G	c.(97-99)ccC>ccG	p.P33P	TYMP_ENST00000395681.1_Silent_p.P33P|TYMP_ENST00000395678.3_Silent_p.P33P|TYMP_ENST00000395680.1_Silent_p.P33P	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	33					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	GGAGCTGCTTGGGCTCTGGCG	0.692																																							0											0													22	25	24					22																	50968040		2203	4298	6501	SO:0001819	synonymous_variant	0			M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.99C>G	22.37:g.50968040G>C			A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk	p.P33	ENST00000252029.3	37	c.99	CCDS14096.1	22																																																																																			0	superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase		0.692	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TYMP	protein_coding	OTTHUMT00000317081.1	93	91	0	1.09	0	1	G	NM_001953	0	0		50968040	-1	no_errors	ENST00000252029	ensembl	human	known	74_37	silent	45	71	8.16	10.00	4	8	SNP	0	C	C	50968040	G	C	50968040	2	2	99	1	0	0	0	0	0	0	0	1	16808	1335	47	5		5	TYMP	22	50968040	Silent	SNP	G	TCGA-ZB-A96A-01A-11D-A428-09	5512	50968040	336526	11	1987											
ITM2A	9452	genome.wustl.edu	37	chrX	78618440	78618440	+	Splice_Site	DEL	T	T	-																															ataagaatgagaagcccaccTtttcaaagtcatgaataatt																								rs36103089		TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chrX:78618440delT	ENST00000373298.2	-	3	583	c.440delA	c.(439-441)aag>ag	p.K147fs	ITM2A_ENST00000434584.2_Splice_Site_p.K103fs|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	147	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAAGCCCACCTTTTCAAAGTC	0.383																																							0											0													67	61	63					X																	78618440		2203	4299	6502	SO:0001630	splice_region_variant	0			BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"BRICHOS domain containing"	6173	protein-coding gene	gene with protein product	"BRICHOS domain containing 2A"	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.441+1A>-	X.37:g.78618440delT			B2R7X5|B4E062|Q6IBC9	Frame_Shift_Del	DEL	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.K147fs	ENST00000373298.2	37	c.440	CCDS14444.1	X																																																																																			0	pfam_BRICHOS_dom,pfscan_BRICHOS_dom		0.383	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITM2A	protein_coding	OTTHUMT00000057329.1	33	109	0	0.00	0	0	T	NM_004867	rs36103089	CT->C	Frame_Shift_Del	78618440	-1	no_errors	ENST00000373298	ensembl	human	known	74_37	frame_shift_del	33	90	21.43	16.67	9	18	DEL	1	0	-	78618440	T	-	78618440	8	5	99	1	0	1	0	1	0	0	1	0	7912	1623	56	0	367	0	ITM2A	23	78618440	Splice_Site	DEL	T	TCGA-ZB-A96A-01A-11D-A428-09		78618440	76652120	12	1988	11	2									
ITM2A	9452	genome.wustl.edu	37	chrX	78618445	78618445	+	Missense_Mutation	SNP	A	A	C																															aatgagaagcccaccttttcAaagtcatgaataattgctgc																										TCGA-ZB-A96A-01A-11D-A428-09	TCGA-ZB-A96A-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	a646c617-55f7-49ec-9a1a-a5bd4f8d147a	b7627666-1ce3-43b3-b2b7-42ae973cd6ad	g.chrX:78618445A>C	ENST00000373298.2	-	3	578	c.435T>G	c.(433-435)ttT>ttG	p.F145L	ITM2A_ENST00000434584.2_Missense_Mutation_p.F101L|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	145	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCACCTTTTCAAAGTCATGAA	0.388																																							0											0													70	63	65					X																	78618445		2203	4300	6503	SO:0001583	missense	0			BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"BRICHOS domain containing"	6173	protein-coding gene	gene with protein product	"BRICHOS domain containing 2A"	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.435T>G	X.37:g.78618445A>C	ENSP00000362395:p.Phe145Leu		B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.F145L	ENST00000373298.2	37	c.435	CCDS14444.1	X	.	.	.	.	.	.	.	.	.	.	a	19.39	3.817777	0.71028	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	D;D	0.84800	-1.9;-1.9	4.6	-0.558	0.11796	BRICHOS (2);	0.000000	0.85682	D	0.000000	D	0.89798	0.6819	M	0.81942	2.565	0.58432	D	0.999995	D;D	0.59357	0.985;0.977	D;P	0.68039	0.955;0.817	D	0.87505	0.2436	10	0.87932	D	0	-18.1639	8.8468	0.35174	0.5336:0.0:0.4664:0.0	.	101;145	B4E062;O43736	.;ITM2A_HUMAN	L	145;101	ENSP00000362395:F145L;ENSP00000415533:F101L	ENSP00000362395:F145L	F	-	3	2	ITM2A	78505101	0.995000	0.38212	0.995000	0.50966	0.862000	0.49288	0.346000	0.19997	-0.219000	0.10003	0.433000	0.28618	TTT	0	pfam_BRICHOS_dom,pfscan_BRICHOS_dom		0.388	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITM2A	protein_coding	OTTHUMT00000057329.1	34	113	0	0.00	0	0	A	NM_004867	0	0		78618445	-1	no_errors	ENST00000373298	ensembl	human	known	74_37	missense	31	92	24.39	16.36	10	18	SNP	0.998	C	C	78618445	A	C	78618445	3	2	99	1	0	0	0	0	1	0	0	0	7912	127	5	5	372	5	ITM2A	23	78618445	Missense_Mutation	SNP	A	TCGA-ZB-A96A-01A-11D-A428-09	5	78618445	76652115	13	1989	11	2									
NKD2	85409	genome.wustl.edu	37	chr5	1038422	1038422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggtgccagtgatccagcgGcacgagcaccaccaccacca	10	3	11	17	3	0	1	0	1	0	0	1	2	1	1	6	2	3	2	6	2	0	0	rs562708775	byFrequency	TCGA-ZB-A96B-01A-11D-A428-09	TCGA-ZB-A96B-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c66b24b6-daa2-4b03-8f06-29d8f6f8192d	469f9bd0-3ee3-489f-8c3f-5c6da32e36a5	g.chr5:1038422G>A	ENST00000296849.5	+	10	1519	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Missense_Mutation_p.A70T	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	430					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)			TGATCCAGCGGCACGAGcacc	0.687																																							0											0													8	5	6					5																	1038422		2077	4130	6207	SO:0001819	synonymous_variant	0			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.1290G>A	5.37:g.1038422G>A			Q96EK8|Q9BSN0	Missense_Mutation	SNP	NULL	p.A70T	ENST00000296849.5	37	c.208	CCDS3859.1	5	.	.	.	.	.	.	.	.	.	.	G	5.670	0.308224	0.10733	.	.	ENSG00000145506	ENST00000382730	.	.	.	3.88	-0.515	0.11954	.	.	.	.	.	T	0.37046	0.0989	.	.	.	0.26646	N	0.972187	.	.	.	.	.	.	T	0.40156	-0.9578	5	0.87932	D	0	-9.8751	4.2379	0.10634	0.2982:0.481:0.2209:0.0	.	.	.	.	T	70	.	ENSP00000372177:A70T	A	+	1	0	NKD2	1091422	0.987000	0.35691	0.346000	0.25655	0.408000	0.30992	-0.003000	0.12901	-0.188000	0.10499	0.561000	0.74099	GCA	0	NULL		0.687	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	protein_coding	OTTHUMT00000206720.2	10	31	0	0.00	0	0	G	NM_033120	0	0		1038422	1	no_errors	ENST00000382730	ensembl	human	known	74_37	missense	14	10	22.22	0.00	4	0	SNP	0.971	A	A	1038422	G	A	1038422	2	1	100	1	0	0	0	0	0	0	0	1	10442	1190	42	3		3	NKD2	5	1038422	Silent	SNP	G	TCGA-ZB-A96B-01A-11D-A428-09		1038422	179876838	1	1990											
NKX2-5	1482	genome.wustl.edu	37	chr5	172659906	172659908	+	In_Frame_Del	DEL	GGC	GGC	-																															gcaccgcgatcctgcgggcaGgcggcggcggcggcgggggc																								rs376340952		TCGA-ZB-A96B-01A-11D-A428-09	TCGA-ZB-A96B-10A-01D-A42B-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c66b24b6-daa2-4b03-8f06-29d8f6f8192d	469f9bd0-3ee3-489f-8c3f-5c6da32e36a5	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											0									,,	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				SO:0001651	inframe_deletion	0			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		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																																																																																			0	NULL		0.709	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-5	protein_coding	OTTHUMT00000252942.2	23	12	0	0.00	0	0	GGC		rs376340952	AGGC->A		172659908	-1	no_errors	ENST00000329198	ensembl	human	known	74_37	in_frame_del	25	9	7.41	0.00	2	0	DEL	0.987:1.000:1.000	0	-	172659908	GGC	-	172659906	7	5	100	1	0	1	0	1	0	0	0	0	10453	1000	35	0	337	0	NKX2-5	5	172659906	In_Frame_Del	DEL	GGC	TCGA-ZB-A96B-01A-11D-A428-09	171621484	172659906	8255354	2	1991											
SRPK3	26576	genome.wustl.edu	37	chrX	153050281	153050281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcggcgccgaatacggccCcccggcagacatctggagca	9	4	13	15	5	1	1	0	0	1	1	2	4	1	2	4	4	2	2	4	4	2	1			TCGA-ZB-A96B-01A-11D-A428-09	TCGA-ZB-A96B-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c66b24b6-daa2-4b03-8f06-29d8f6f8192d	469f9bd0-3ee3-489f-8c3f-5c6da32e36a5	g.chrX:153050281C>A	ENST00000370101.3	+	12	1371	c.1325C>A	c.(1324-1326)cCc>cAc	p.P442H	SRPK3_ENST00000370104.1_Missense_Mutation_p.P441H|SRPK3_ENST00000370108.3_Missense_Mutation_p.P409H|SRPK3_ENST00000370100.1_Missense_Mutation_p.P367H|SRPK3_ENST00000489426.1_Missense_Mutation_p.P509H|SRPK3_ENST00000393786.3_Missense_Mutation_p.P408H|IDH3G_ENST00000497043.1_5'Flank	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	442	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	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)					GAATACGGCCCCCCGGCAGAC	0.692																																					Esophageal Squamous(167;766 3400 32156)		0											0													33	34	34					X																	153050281		2199	4294	6493	SO:0001583	missense	0			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"serine/threonine kinase 23", "SFRS protein kinase 3"	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1325C>A	X.37:g.153050281C>A	ENSP00000359119:p.Pro442His		Q13583|Q4F970|Q562F5|Q9UM62	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.P442H	ENST00000370101.3	37	c.1325	CCDS35441.1	X	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560634	0.45590	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.05	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.111909	0.38436	N	0.001697	T	0.67646	0.2915	L	0.38838	1.175	0.46749	D	0.999187	P;P;P;P;D	0.76494	0.924;0.924;0.924;0.938;0.999	B;B;B;P;D	0.65323	0.299;0.417;0.417;0.552;0.934	T	0.68515	-0.5388	10	0.59425	D	0.04	-28.095	11.9718	0.53067	0.0:0.9107:0.0:0.0893	.	366;441;408;442;509	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.;.;.;SRPK3_HUMAN;.	H	509;408;441;409;442;367	ENSP00000420058:P509H;ENSP00000377376:P408H;ENSP00000359122:P441H;ENSP00000359126:P409H;ENSP00000359119:P442H;ENSP00000359118:P367H	ENSP00000359118:P367H	P	+	2	0	SRPK3	152703475	0.152000	0.22762	0.990000	0.47175	0.042000	0.13812	4.012000	0.57131	0.906000	0.36621	0.429000	0.28392	CCC	0	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.692	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRPK3	protein_coding	OTTHUMT00000354501.1	24	17	0	0.00	0	0	C	NM_014370	0	0		153050281	1	no_errors	ENST00000370101	ensembl	human	known	74_37	missense	18	6	18.18	0.00	4	0	SNP	1	A	A	153050281	C	A	153050281	3	1	100	1	0	0	0	0	1	0	0	0	15160	623	22	5	1371	5	SRPK3	23	153050281	Missense_Mutation	SNP	C	TCGA-ZB-A96B-01A-11D-A428-09		153050281	2220279	3	1992											
NECAP2	55707	genome.wustl.edu	37	chr1	16785395	16785395	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagttctgacctgagcacGgtttttcctcatgtgacttc	6	15	8	12	1	2	3	1	3	1	0	5	3	4	3	3	1	1	3	3	1	0	4			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr1:16785395G>A	ENST00000337132.5	+	0	892				NECAP2_ENST00000406746.1_3'UTR|NECAP2_ENST00000443980.2_Silent_p.T242T|NECAP2_ENST00000504551.2_3'UTR|NECAP2_ENST00000457722.2_3'UTR|RP4-798A10.2_ENST00000457898.1_lincRNA	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2						endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGAGCACGGTTTTTCCTC	0.562																																							0											0													74	76	75					1																	16785395		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.*10G>A	1.37:g.16785395G>A			B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Silent	SNP	pfam_NECAP-1	p.T242	ENST00000337132.5	37	c.726	CCDS173.1	1																																																																																			0	NULL		0.562	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAP2	protein_coding	OTTHUMT00000006680.2	64	136	0	0.00	0	0	G	NM_018090	0	0		16785395	1	no_errors	ENST00000443980	ensembl	human	known	74_37	silent	43	128	14	6.52	7	9	SNP	0	A	A	16785395	G	A	16785395	1	1	101	0	1	0	0	0	0	0	0	0	10308	1103	39	2		2	NECAP2	1	16785395	3'UTR	SNP	G	TCGA-ZB-A96C-01A-11D-A428-09		16785395	232465226	1	1993											
CCDC108	255101	genome.wustl.edu	37	chr2	219870259	219870259	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtctctgactcttcccTgggggccttcctctttggca	5	13	10	13	0	3	2	0	1	3	1	6	2	5	2	3	3	0	1	3	3	1	3			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr2:219870259T>G	ENST00000341552.5	-	32	5031	c.4948A>C	c.(4948-4950)Agg>Cgg	p.R1650R	CCDC108_ENST00000453220.1_Silent_p.R1650R|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Silent_p.R1650R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1650						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)		GACTCTTCCCTGGGGGCCTTC	0.552																																							0											0													66	67	67					2																	219870259		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4948A>C	2.37:g.219870259T>G			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_MSP_dom	p.R1650	ENST00000341552.5	37	c.4948	CCDS2430.2	2																																																																																			0	NULL		0.552	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	protein_coding	OTTHUMT00000256598.4	72	147	0	0.00	0	0	T	NM_194302	0	0		219870259	-1	no_errors	ENST00000341552	ensembl	human	known	74_37	silent	49	76	33.78	37.40	25	46	SNP	0	G	G	219870259	T	G	219870259	2	3	101	1	0	0	0	0	0	0	0	1	2743	1579	55	5		5	CCDC108	2	219870259	Silent	SNP	T	TCGA-ZB-A96C-01A-11D-A428-09		219870259	23329114	2	1994											
PTPRN	5798	genome.wustl.edu	37	chr2	220164896	220164896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggacttcactggaggtaGggctggcagtggggtgtcca	6	9	18	8	0	1	0	1	0	0	0	2	2	2	2	1	7	0	4	1	7	1	2			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr2:220164896G>C	ENST00000295718.2	-	9	1487	c.1247C>G	c.(1246-1248)cCt>cGt	p.P416R	PTPRN_ENST00000409251.3_Missense_Mutation_p.P416R|PTPRN_ENST00000423636.2_Missense_Mutation_p.P326R|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	416					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)		ACTGGAGGTAGGGCTGGCAGT	0.617																																							0											0													65	74	71					2																	220164896		2203	4300	6503	SO:0001583	missense	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1247C>G	2.37:g.220164896G>C	ENSP00000295718:p.Pro416Arg		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.P416R	ENST00000295718.2	37	c.1247	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743256	0.30865	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.25912	1.77;1.77;1.77	4.14	4.14	0.48551	.	0.403521	0.21484	N	0.073783	T	0.14614	0.0353	L	0.29908	0.895	0.29033	N	0.885598	P;P	0.39216	0.664;0.664	B;B	0.29942	0.109;0.109	T	0.08638	-1.0712	10	0.27785	T	0.31	.	9.9245	0.41483	0.0:0.2075:0.7925:0.0	.	416;416	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	416;416;416;326	ENSP00000386638:P416R;ENSP00000295718:P416R;ENSP00000444244:P326R	ENSP00000295718:P416R	P	-	2	0	PTPRN	219873140	0.942000	0.31987	0.324000	0.25361	0.829000	0.46940	2.819000	0.48049	2.123000	0.65237	0.462000	0.41574	CCT	0	NULL		0.617	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	protein_coding	OTTHUMT00000256819.2	20	83	0	0.00	0	0	G		0	0		220164896	-1	no_errors	ENST00000295718	ensembl	human	known	74_37	missense	9	55	55	35.29	11	30	SNP	0.732	C	C	220164896	G	C	220164896	3	2	101	1	0	0	0	0	1	0	0	0	12807	1000	35	5	1752	5	PTPRN	2	220164896	Missense_Mutation	SNP	G	TCGA-ZB-A96C-01A-11D-A428-09	294637	220164896	23034477	3	1995											
IQCA1	79781	genome.wustl.edu	37	chr2	237246856	237246856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggggtacttgccgtatctgGaagcatagtctggtctgggc	6	11	16	8	1	3	0	0	0	3	0	3	1	3	1	1	5	3	3	1	5	4	4			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr2:237246856G>T	ENST00000409907.3	-	17	2400	c.2126C>A	c.(2125-2127)tCc>tAc	p.S709Y	IQCA1_ENST00000309507.5_Missense_Mutation_p.S706Y|IQCA1_ENST00000431676.2_Missense_Mutation_p.S668Y	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	709							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCCGTATCTGGAAGCATAGTC	0.562																																							0											0													43	45	44					2																	237246856		1919	4119	6038	SO:0001583	missense	0			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.2126C>A	2.37:g.237246856G>T	ENSP00000387347:p.Ser709Tyr		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.S709Y	ENST00000409907.3	37	c.2126	CCDS46549.1	2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684194	0.88639	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676	D;D;D	0.88818	-2.43;-2.43;-2.43	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000002	D	0.95557	0.8556	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.99	D	0.96041	0.9024	10	0.87932	D	0	.	18.9821	0.92758	0.0:0.0:1.0:0.0	.	668;717;709	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	Y	709;717;706;668	ENSP00000387347:S709Y;ENSP00000311951:S706Y;ENSP00000407213:S668Y	ENSP00000311951:S706Y	S	-	2	0	IQCA1	236911595	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.264000	0.95635	2.572000	0.86782	0.655000	0.94253	TCC	0	superfamily_P-loop_NTPase		0.562	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	protein_coding	OTTHUMT00000329266.1	44	242	0	0.00	0	0	G	NM_024726	0	0		237246856	-1	no_errors	ENST00000409907	ensembl	human	known	74_37	missense	26	109	38.1	35.12	16	59	SNP	1	T	T	237246856	G	T	237246856	3	4	101	1	0	0	0	0	1	0	0	0	7802	1174	41	5	354	5	IQCA1	2	237246856	Missense_Mutation	SNP	G	TCGA-ZB-A96C-01A-11D-A428-09	17081960	237246856	5952517	4	1996											
HES1	3280	genome.wustl.edu	37	chr3	193855974	193855974	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgcagtgtcaccttccagCggcccctcgcttacggcgga	7	7	11	16	5	1	0	1	0	0	0	3	1	2	1	4	3	3	2	4	3	2	2			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr3:193855974C>G	ENST00000232424.3	+	4	1031	c.795C>G	c.(793-795)agC>agG	p.S265R		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CACCTTCCAGCGGCCCCTCGC	0.667																																							0											0													19	22	21					3																	193855974		2201	4294	6495	SO:0001583	missense	0			L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.795C>G	3.37:g.193855974C>G	ENSP00000232424:p.Ser265Arg		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	pfam_Orange,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.S265R	ENST00000232424.3	37	c.795	CCDS3305.1	3	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591455	0.28357	.	.	ENSG00000114315	ENST00000232424	T	0.60171	0.21	5.39	3.59	0.41128	.	0.417415	0.25063	N	0.033437	T	0.34745	0.0908	N	0.24115	0.695	0.28407	N	0.918375	B	0.11235	0.004	B	0.06405	0.002	T	0.12760	-1.0535	10	0.21014	T	0.42	-5.4335	2.5954	0.04853	0.2334:0.4968:0.1212:0.1486	.	265	Q14469	HES1_HUMAN	R	265	ENSP00000232424:S265R	ENSP00000232424:S265R	S	+	3	2	HES1	195338668	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	0.296000	0.19083	0.741000	0.32674	0.655000	0.94253	AGC	0	NULL		0.667	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES1	protein_coding	OTTHUMT00000342632.1	55	56	0	0.00	0	0	C		0	0		193855974	1	no_errors	ENST00000232424	ensembl	human	known	74_37	missense	27	59	42.55	39.80	20	39	SNP	1	G	G	193855974	C	G	193855974	3	3	101	1	0	0	0	0	1	0	0	0	7065	767	27	5	809	5	HES1	3	193855974	Missense_Mutation	SNP	C	TCGA-ZB-A96C-01A-11D-A428-09		193855974	4166456	5	1997											
ZSCAN16	80345	genome.wustl.edu	37	chr6	28097443	28097443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcagaccttagtaaacaCaggagaactcacacgggaga	16	5	10	10	1	2	3	2	0	0	3	2	5	2	3	1	2	3	2	1	2	4	2	rs113926481		TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr6:28097443C>T	ENST00000340487.4	+	4	911	c.762C>T	c.(760-762)caC>caT	p.H254H	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	254					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)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TTAGTAAACACAGGAGAACTC	0.433																																							0											0													102	107	106					6																	28097443		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"-", "Zinc fingers, C2H2-type"	20813	protein-coding gene	gene with protein product			"zinc finger protein 392", "zinc finger protein 435"	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.762C>T	6.37:g.28097443C>T			Q9H6K2	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.H254	ENST00000340487.4	37	c.762	CCDS4644.1	6																																																																																			0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN16	protein_coding	OTTHUMT00000040177.1	73	245	0	0.00	0	0	C	NM_025231	0	0		28097443	1	no_errors	ENST00000340487	ensembl	human	known	74_37	silent	28	130	53.33	35.00	32	70	SNP	0.839	T	T	28097443	C	T	28097443	2	4	101	1	0	0	0	0	0	0	0	1	18226	477	17	3		3	ZSCAN16	6	28097443	Silent	SNP	C	TCGA-ZB-A96C-01A-11D-A428-09		28097443	143017624	6	1998											
FILIP1	27145	genome.wustl.edu	37	chr6	76022744	76022744	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacagtggtactagaaaaaAattcttcagatgtcgggctt	13	12	10	6	1	2	3	1	1	1	2	3	3	2	3	0	2	1	2	0	2	5	5			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr6:76022744A>G	ENST00000237172.7	-	5	3134	c.2804T>C	c.(2803-2805)tTt>tCt	p.F935S	FILIP1_ENST00000370020.1_Missense_Mutation_p.F836S|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.F935S	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	935										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						ACTAGAAAAAAATTCTTCAGA	0.438																																							0											0													155	153	154					6																	76022744		2203	4300	6503	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2804T>C	6.37:g.76022744A>G	ENSP00000237172:p.Phe935Ser		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.F935S	ENST00000237172.7	37	c.2804	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	A	7.874	0.728836	0.15507	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.15834	2.39;2.4;2.41	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	L	0.37630	1.12	0.58432	D	0.999991	P;B;B	0.42692	0.787;0.024;0.041	B;B;B	0.36186	0.219;0.019;0.042	T	0.26677	-1.0096	10	0.20046	T	0.44	-20.9288	16.5582	0.84512	1.0:0.0:0.0:0.0	.	935;935;935	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	S	935;935;836	ENSP00000376728:F935S;ENSP00000237172:F935S;ENSP00000359037:F836S	ENSP00000237172:F935S	F	-	2	0	FILIP1	76079464	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	6.950000	0.75977	2.308000	0.77769	0.533000	0.62120	TTT	0	NULL		0.438	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	protein_coding	OTTHUMT00000041263.1	42	219	0	0.00	0	0	A	XM_029179	0	0		76022744	-1	no_errors	ENST00000237172	ensembl	human	known	74_37	missense	17	138	39.29	36.70	11	80	SNP	0.998	G	G	76022744	A	G	76022744	3	3	101	1	0	0	0	0	1	0	0	0	5894	14	1	3	845	3	FILIP1	6	76022744	Missense_Mutation	SNP	A	TCGA-ZB-A96C-01A-11D-A428-09	47925301	76022744	95092323	7	1999											
LFNG	3955	genome.wustl.edu	37	chr7	2565349	2565349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttctggtttgccacgggcGgcgctggcttctgcatcagc	4	11	13	13	3	3	0	1	0	2	0	3	0	3	0	1	4	3	4	1	4	0	3			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr7:2565349G>A	ENST00000222725.5	+	5	786	c.766G>A	c.(766-768)Ggc>Agc	p.G256S	LFNG_ENST00000338732.3_Missense_Mutation_p.G127S|LFNG_ENST00000402506.1_Missense_Mutation_p.G185S|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000402045.1_Missense_Mutation_p.G127S|LFNG_ENST00000359574.3_Missense_Mutation_p.G256S	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	256					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		TGCCACGGGCGGCGCTGGCTT	0.682																																							0											0													50	51	51					7																	2565349		2201	4298	6499	SO:0001583	missense	0			BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.766G>A	7.37:g.2565349G>A	ENSP00000222725:p.Gly256Ser		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	pfam_Fringe-like,pirsf_Fringe	p.G256S	ENST00000222725.5	37	c.766	CCDS34587.1	7	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690175	0.88735	.	.	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.95030	0.8391	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	0.96330	0.9243	10	0.87932	D	0	-7.1584	18.9863	0.92771	0.0:0.0:1.0:0.0	.	256;256	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	S	185;127;127;256;256	ENSP00000385764:G185S;ENSP00000384786:G127S;ENSP00000343095:G127S;ENSP00000222725:G256S;ENSP00000352579:G256S	ENSP00000222725:G256S	G	+	1	0	LFNG	2531875	1.000000	0.71417	0.123000	0.21794	0.963000	0.63663	9.193000	0.94954	2.489000	0.83994	0.561000	0.74099	GGC	0	pfam_Fringe-like,pirsf_Fringe		0.682	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LFNG	protein_coding	OTTHUMT00000325021.1	38	97	0	0.00	0	0	G	NM_002304	0	0		2565349	1	no_errors	ENST00000222725	ensembl	human	known	74_37	missense	37	71	15.91	4.05	7	3	SNP	1	A	A	2565349	G	A	2565349	3	1	101	1	0	0	0	0	1	0	0	0	8737	1116	39	2	1060	2	LFNG	7	2565349	Missense_Mutation	SNP	G	TCGA-ZB-A96C-01A-11D-A428-09		2565349	156573314	8	2000											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	415	143	0.24	0.00	1	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	205	53	39.88	41.94	136	39	SNP	1	A	A	74146970	T	A	74146970	3	1	101	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A96C-01A-11D-A428-09	71581621	74146970	84991693	9	2001											
BHLHE22	27319	genome.wustl.edu	37	chr8	65493948	65493950	+	In_Frame_Del	DEL	GGC	GGC	-																															gcgtccccccggggggcctgGgcggcggcggcggcgggggt																										TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr8:65493948_65493950delGGC	ENST00000321870.1	+	1	1135_1137	c.601_603delGGC	c.(601-603)ggcdel	p.G207del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	207	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggggggcctgggcggcggcggcg	0.783																																					Colon(113;104 1586 2865 9855 18065)		0											0										4,766		1,2,382						-1.2	0			1	17,2213		4,9,1102	no	coding	BHLHE22	NM_152414.4		5,11,1484	A1A1,A1R,RR		0.7623,0.5195,0.7				21,2979				SO:0001651	inframe_deletion	0			U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.601_603delGGC	8.37:g.65493957_65493959delGGC	ENSP00000318799:p.Gly207del			In_Frame_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G204in_frame_del	ENST00000321870.1	37	c.601_603	CCDS6179.1	8																																																																																			0	NULL		0.783	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE22	protein_coding	OTTHUMT00000378549.1	12	11	0	0.00	0	0	GGC	NM_152414	0	0		65493950	1	no_errors	ENST00000321870	ensembl	human	known	74_37	in_frame_del	4	10	33.33	0.00	2	0	DEL	0.956:0.962:0.959	0	-	65493950	GGC	-	65493948	7	5	101	1	0	1	0	1	0	0	0	0	1421	1232	43	0	603	0	BHLHE22	8	65493948	In_Frame_Del	DEL	GGC	TCGA-ZB-A96C-01A-11D-A428-09		65493948	80870074	10	2002											
MAMDC4	158056	genome.wustl.edu	37	chr9	139750227	139750227	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgggggctgggaggaCgccagcgtggggcggctgca	5	4	23	9	3	0	0	0	0	0	0	0	3	0	2	1	8	2	4	1	8	0	0			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr9:139750227C>T	ENST00000317446.2	+	13	1565	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	MAMDC4_ENST00000445819.1_Silent_p.D505D|MAMDC4_ENST00000485732.1_3'UTR	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)		GCTGGGAGGACGCCAGCGTGG	0.687																																							0											0													9	11	10					9																	139750227		2137	4220	6357	SO:0001819	synonymous_variant	0			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.1515C>T	9.37:g.139750227C>T				Silent	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.D505	ENST00000317446.2	37	c.1515	CCDS7010.1	9	.	.	.	.	.	.	.	.	.	.	.	6.744	0.506041	0.12883	.	.	ENSG00000177943	ENST00000413647	.	.	.	3.79	-3.54	0.04653	.	.	.	.	.	T	0.63212	0.2492	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61657	-0.7018	4	.	.	.	-26.5277	14.1068	0.65096	0.0:0.8124:0.0:0.1876	.	.	.	.	C	487	.	.	R	+	1	0	MAMDC4	138870048	0.000000	0.05858	0.760000	0.31359	0.588000	0.36517	-2.513000	0.00957	-0.794000	0.04468	-0.367000	0.07326	CGC	0	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	17	33	0	0.00	0	0	C	NM_206920	0	0		139750227	1	no_errors	ENST00000445819	ensembl	human	known	74_37	silent	15	38	28.57	29.63	6	16	SNP	0.908	T	T	139750227	C	T	139750227	2	4	101	1	0	0	0	0	0	0	0	1	9204	535	19	1		1	MAMDC4	9	139750227	Silent	SNP	C	TCGA-ZB-A96C-01A-11D-A428-09		139750227	1463204	11	2003											
SLC22A6	9356	genome.wustl.edu	37	chr11	62744854	62744854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccattcccatgcctGtctgcctgcagggcccgcag	4	9	11	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	0	1			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr11:62744854G>T	ENST00000377871.3	-	9	1633	c.1367C>A	c.(1366-1368)aCa>aAa	p.T456K	SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.T456K|SLC22A6_ENST00000458333.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	456					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)	TCCCATGCCTGTCTGCCTGCA	0.617																																							0											0													35	28	31					11																	62744854		2200	4298	6498	SO:0001583	missense	0			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.1367C>A	11.37:g.62744854G>T	ENSP00000367102:p.Thr456Lys		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.T456K	ENST00000377871.3	37	c.1367	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	G	19.07	3.754978	0.69648	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871	T;T	0.61510	0.1;0.1	4.76	4.76	0.60689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169446	0.51477	D	0.000098	T	0.75324	0.3834	M	0.83384	2.64	0.80722	D	1	D;D	0.59767	0.986;0.982	P;P	0.62089	0.898;0.835	T	0.79642	-0.1718	10	0.66056	D	0.02	.	15.2981	0.73925	0.0:0.0:1.0:0.0	.	456;456	Q4U2R8;Q4U2R8-2	S22A6_HUMAN;.	K	456;435;456	ENSP00000353597:T456K;ENSP00000367102:T456K	ENSP00000353597:T456K	T	-	2	0	SLC22A6	62501430	0.965000	0.33210	0.950000	0.38849	0.778000	0.44026	1.672000	0.37523	2.440000	0.82611	0.561000	0.74099	ACA	0	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.617	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	protein_coding	OTTHUMT00000396186.1	11	67	0	0.00	0	0	G	NM_004790	0	0		62744854	-1	no_errors	ENST00000377871	ensembl	human	known	74_37	missense	4	36	60	33.33	6	18	SNP	0.96	T	T	62744854	G	T	62744854	3	4	101	1	0	0	0	0	1	0	0	0	14458	1377	48	5	332	5	SLC22A6	11	62744854	Missense_Mutation	SNP	G	TCGA-ZB-A96C-01A-11D-A428-09		62744854	72261662	12	2004											
OR6M1	390261	genome.wustl.edu	37	chr11	123676667	123676667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgttcatgatgaccgTgtagtgcagtgggtcgcaga	7	11	14	9	2	1	3	1	2	0	1	2	3	1	3	2	1	2	5	2	1	1	2			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr11:123676667T>C	ENST00000309154.2	-	1	428	c.391A>G	c.(391-393)Acg>Gcg	p.T131A		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		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;0.028)		ATGATGACCGTGTAGTGCAGT	0.522																																							0											0													48	50	50					11																	123676667		2202	4298	6500	SO:0001583	missense	0			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.391A>G	11.37:g.123676667T>C	ENSP00000311038:p.Thr131Ala		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T131A	ENST00000309154.2	37	c.391	CCDS31696.1	11	.	.	.	.	.	.	.	.	.	.	T	0.081	-1.183264	0.01620	.	.	ENSG00000196099	ENST00000309154	T	0.01185	5.21	3.68	1.03	0.20045	GPCR, rhodopsin-like superfamily (1);	0.234669	0.21605	U	0.071896	T	0.01092	0.0036	L	0.28458	0.855	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46442	-0.9191	10	0.38643	T	0.18	.	9.0926	0.36621	0.0:0.0:0.4576:0.5424	.	131	Q8NGM8	OR6M1_HUMAN	A	131	ENSP00000311038:T131A	ENSP00000311038:T131A	T	-	1	0	OR6M1	123181877	0.000000	0.05858	0.526000	0.27913	0.016000	0.09150	-2.265000	0.01172	-0.016000	0.14127	-0.313000	0.08912	ACG	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.522	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	protein_coding	OTTHUMT00000387437.1	51	104	0	0.00	0	0	T	NM_001005325	0	0		123676667	-1	no_errors	ENST00000309154	ensembl	human	known	74_37	missense	27	49	35.71	45.56	15	41	SNP	0.03	C	C	123676667	T	C	123676667	3	2	101	1	0	0	0	0	1	0	0	0	11205	1696	59	3	553	3	OR6M1	11	123676667	Missense_Mutation	SNP	T	TCGA-ZB-A96C-01A-11D-A428-09	60931813	123676667	11329849	13	2005											
BBS10	79738	genome.wustl.edu	37	chr12	76741446	76741446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatgttttcacacatcaaagGatccttttctctgtctgtga	10	16	6	9	0	4	1	2	1	2	0	6	2	5	2	1	1	0	1	1	1	2	4			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr12:76741446G>A	ENST00000393262.3	-	2	402	c.319C>T	c.(319-321)Cct>Tct	p.P107S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	107					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CACATCAAAGGATCCTTTTCT	0.378									Bardet-Biedl syndrome																														0											0													95	94	94					12																	76741446		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.319C>T	12.37:g.76741446G>A	ENSP00000376946:p.Pro107Ser		Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.P107S	ENST00000393262.3	37	c.319	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.538964	0.00143	.	.	ENSG00000179941	ENST00000393262;ENST00000547830	D	0.89415	-2.51	5.2	1.3	0.21679	.	0.766930	0.12094	N	0.500133	T	0.58652	0.2137	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56968	-0.7891	10	0.09338	T	0.73	-0.02	5.392	0.16249	0.6701:0.1629:0.167:0.0	.	107	Q8TAM1	BBS10_HUMAN	S	107;41	ENSP00000376946:P107S	ENSP00000376946:P107S	P	-	1	0	BBS10	75265577	0.000000	0.05858	0.004000	0.12327	0.234000	0.25298	0.286000	0.18902	0.157000	0.19338	-0.300000	0.09419	CCT	0	superfamily_Cpn60/TCP-1		0.378	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	protein_coding	OTTHUMT00000303983.2	27	188	0	0.00	0	0	G	NM_024685	0	0		76741446	-1	no_errors	ENST00000393262	ensembl	human	known	74_37	missense	11	86	31.25	35.82	5	48	SNP	0.051	A	A	76741446	G	A	76741446	3	1	101	1	0	0	0	0	1	0	0	0	1336	1174	41	3	1856	3	BBS10	12	76741446	Missense_Mutation	SNP	G	TCGA-ZB-A96C-01A-11D-A428-09		76741446	57110449	14	2006											
SACS	26278	genome.wustl.edu	37	chr13	23913409	23913409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaacctagttatgttcaCaaaatctgaatctgagaatt	14	14	5	8	0	3	2	1	2	2	1	4	3	4	2	2	0	1	2	2	0	7	5			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr13:23913409C>A	ENST00000382292.3	-	9	4879	c.4606G>T	c.(4606-4608)Gtg>Ttg	p.V1536L	SACS_ENST00000402364.1_Missense_Mutation_p.V786L|SACS_ENST00000382298.3_Missense_Mutation_p.V1536L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1536					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)		GTTATGTTCACAAAATCTGAA	0.383																																							0											0													60	59	59					13																	23913409		2203	4300	6503	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4606G>T	13.37:g.23913409C>A	ENSP00000371729:p.Val1536Leu		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.V1536L	ENST00000382292.3	37	c.4606	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773176	0.16051	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	T;T;T	0.79940	-1.32;-1.32;-1.32	5.96	1.66	0.24008	ATPase-like, ATP-binding domain (2);	0.321555	0.30356	N	0.009809	T	0.53029	0.1771	N	0.05230	-0.09	0.23936	N	0.99641	B	0.02656	0.0	B	0.01281	0.0	T	0.29852	-0.9998	10	0.24483	T	0.36	.	1.9265	0.03318	0.3142:0.3851:0.1463:0.1544	.	1536	Q9NZJ4	SACS_HUMAN	L	1536;786;1536	ENSP00000371729:V1536L;ENSP00000385844:V786L;ENSP00000371735:V1536L	ENSP00000371729:V1536L	V	-	1	0	SACS	22811409	0.998000	0.40836	0.996000	0.52242	0.998000	0.95712	0.849000	0.27723	0.372000	0.24591	0.650000	0.86243	GTG	0	superfamily_HATPase_ATP-bd		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	protein_coding	OTTHUMT00000044148.3	41	277	0	0.00	0	0	C	NM_014363	0	0		23913409	-1	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	20	148	42.86	36.48	15	85	SNP	0.989	A	A	23913409	C	A	23913409	3	1	101	1	0	0	0	0	1	0	0	0	13804	478	17	5	9137	5	SACS	13	23913409	Missense_Mutation	SNP	C	TCGA-ZB-A96C-01A-11D-A428-09		23913409	91256469	15	2007											
BEGAIN	57596	genome.wustl.edu	37	chr14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-																															cgggaaggccgccgcctcggCctcctcctcctcctcggccg																										TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	CCT	CCT	CCT	-	CCT	CCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr14:101005271_101005273delCCT	ENST00000355173.2	-	7	886_888	c.815_817delAGG	c.(814-819)gaggcc>gcc	p.E272del	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_In_Frame_Del_p.E208del|BEGAIN_ENST00000443071.2_In_Frame_Del_p.E272del	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	272						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724																																					NSCLC(159;1889 2010 9965 27479 40101)		0											0																																										SO:0001651	inframe_deletion	0			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.815_817delAGG	14.37:g.101005280_101005282delCCT	ENSP00000347301:p.Glu272del		Q9NPU3|Q9P282	In_Frame_Del	DEL	superfamily_Prefoldin	p.E272in_frame_del	ENST00000355173.2	37	c.817_815	CCDS9962.1	14																																																																																			0	NULL		0.724	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	protein_coding	OTTHUMT00000414329.1	12	35	0	0.00	0	0	CCT	NM_020836	0	0		101005273	-1	no_errors	ENST00000355173	ensembl	human	known	74_37	in_frame_del	10	29	16.67	6.45	2	2	DEL	0.781:0.856:0.982	0	-	101005273	CCT	-	101005271	7	5	101	1	0	1	0	1	0	0	0	0	1397	739	26	0	968	0	BEGAIN	14	101005271	In_Frame_Del	DEL	CCT	TCGA-ZB-A96C-01A-11D-A428-09		101005271	6344269	16	2008											
THAP11	57215	genome.wustl.edu	37	chr16	67876808	67876808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaacagcagcaacaGcagcagcagcagcaacagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-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)		agcagcaacagcagcagcagc	0.667																																							0											0													22	27	25					16																	67876808		1916	3809	5725	SO:0001819	synonymous_variant	0			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.351G>A	16.37:g.67876808G>A			A4UCT5|A8K002|O94795	Silent	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.Q117	ENST00000303596.1	37	c.351	CCDS10847.1	16																																																																																			0	NULL		0.667	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP11	protein_coding	OTTHUMT00000268879.1	9	11	0	0.00	0	0	G	NM_020457	0	0		67876808	1	no_errors	ENST00000303596	ensembl	human	known	74_37	silent	17	11	19.05	15.38	4	2	SNP	0.946	A	A	67876808	G	A	67876808	2	1	101	1	0	0	0	0	0	0	0	1	15840	962	34	3		3	THAP11	16	67876808	Silent	SNP	G	TCGA-ZB-A96C-01A-11D-A428-09		67876808	22477945	17	2009											
SPIRE2	84501	genome.wustl.edu	37	chr16	89936636	89936636	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgacgcagtcgccagaccCaatccctctacatccctaac	11	6	5	19	3	1	1	0	0	1	1	4	2	3	1	4	0	2	1	4	0	3	2			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr16:89936636C>T	ENST00000378247.3	+	15	2144	c.2101C>T	c.(2101-2103)Caa>Taa	p.Q701*	SPIRE2_ENST00000393062.2_Nonsense_Mutation_p.Q653*	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	701					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TCGCCAGACCCAATCCCTCTA	0.607																																							0											0													98	62	74					16																	89936636		2196	4300	6496	SO:0001587	stop_gained	0			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.2101C>T	16.37:g.89936636C>T	ENSP00000367494:p.Gln701*		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.Q701*	ENST00000378247.3	37	c.2101	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	c	37	6.089579	0.97271	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	.	.	.	4.98	4.98	0.66077	.	0.380530	0.28135	N	0.016473	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-37.0087	17.3585	0.87343	0.0:1.0:0.0:0.0	.	.	.	.	X	701;653	.	ENSP00000367494:Q701X	Q	+	1	0	SPIRE2	88464137	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	3.372000	0.52387	2.756000	0.94617	0.543000	0.68304	CAA	0	NULL		0.607	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	protein_coding	OTTHUMT00000421843.1	39	185	0	0.00	0	0	C	XM_047462	0	0		89936636	1	no_errors	ENST00000378247	ensembl	human	known	74_37	nonsense	22	90	46.34	40.40	19	61	SNP	0.997	T	T	89936636	C	T	89936636	4	4	101	1	0	0	0	0	0	1	0	0	15071	595	21	3	2159	3	SPIRE2	16	89936636	Nonsense_Mutation	SNP	C	TCGA-ZB-A96C-01A-11D-A428-09	22059828	89936636	418117	18	2010											
DHX33	56919	genome.wustl.edu	37	chr17	5372037	5372039	+	In_Frame_Del	DEL	CCT	CCT	-																															ggggcggctgctgcctccggCctcctcctcctcctctgccg																										TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr17:5372037_5372039delCCT	ENST00000225296.3	-	1	341_343	c.141_143delAGG	c.(139-144)ggaggc>ggc	p.47_48GG>G	CTC-524C5.5_ENST00000571506.1_lincRNA|DHX33_ENST00000433302.3_In_Frame_Del_p.47_48GG>G	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	47					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGCCTCCGGCCTCCTCCTCCTC	0.724																																							0											0									,	85,4071		5,75,1998					,	2.9	1			12	159,7947		11,137,3905	no	coding,utr-5	DHX33	NM_020162.3,NM_001199699.1	,	16,212,5903	A1A1,A1R,RR		1.9615,2.0452,1.9899	,	,		244,12018				SO:0001651	inframe_deletion	0			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.141_143delAGG	17.37:g.5372046_5372048delCCT	ENSP00000225296:p.Gly48del		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	In_Frame_Del	DEL	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.G48in_frame_del	ENST00000225296.3	37	c.143_141	CCDS11072.1	17																																																																																			0	NULL		0.724	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX33	protein_coding	OTTHUMT00000219826.2	31	4	0	0.00	0	0	CCT	NM_020162	0	0		5372039	-1	no_errors	ENST00000225296	ensembl	human	known	74_37	in_frame_del	19	2	9.52	0.00	2	0	DEL	1.000:1.000:1.000	0	-	5372039	CCT	-	5372037	7	5	101	1	0	1	0	1	0	0	0	0	4506	739	26	0	2028	0	DHX33	17	5372037	In_Frame_Del	DEL	CCT	TCGA-ZB-A96C-01A-11D-A428-09		5372037	75823173	19	2011											
DSC3	1825	genome.wustl.edu	37	chr18	28622608	28622608	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctccgcgcacggagcgccGgggcccagcggcggccatcg	4	2	18	17	8	0	0	0	0	0	0	2	1	1	1	4	6	2	2	4	6	0	0			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr18:28622608G>T	ENST00000360428.4	-	1	99	c.19C>A	c.(19-21)Cgg>Agg	p.R7R	DSC3_ENST00000434452.1_Silent_p.R7R	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	7					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)			ACGGAGCGCCGGGGCCCAGCG	0.746																																							0											0													3	3	3					18																	28622608		1665	3296	4961	SO:0001819	synonymous_variant	0			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.19C>A	18.37:g.28622608G>T			A6NN35|Q14200|Q9HAZ9	Silent	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.R7	ENST00000360428.4	37	c.19	CCDS32810.1	18																																																																																			0	NULL		0.746	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	protein_coding	OTTHUMT00000447384.1	23	8	0	0.00	0	0	G	NM_001941, NM_024423	0	0		28622608	-1	no_errors	ENST00000360428	ensembl	human	known	74_37	silent	24	9	14.29	0.00	4	0	SNP	0.02	T	T	28622608	G	T	28622608	2	4	101	1	0	0	0	0	0	0	0	1	4767	1115	39	5		5	DSC3	18	28622608	Silent	SNP	G	TCGA-ZB-A96C-01A-11D-A428-09		28622608	49454640	20	2012											
TMEM149	79713	genome.wustl.edu	37	chr19	36230713	36230713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaggggtgtgggtgttggGgactccgcagaccaagccag	8	6	19	8	1	0	1	0	0	0	1	1	3	1	3	3	6	1	2	3	6	2	1			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr19:36230713G>T	ENST00000592537.1	-	4	719	c.619C>A	c.(619-621)Ccc>Acc	p.P207T	IGFLR1_ENST00000587101.1_5'Flank|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000246532.1_Missense_Mutation_p.P207T|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TGGGTGTTGGGGACTCCGCAG	0.607																																							0											0													92	99	96					19																	36230713		2203	4300	6503	SO:0001583	missense	0			AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 4", "transmembrane protein 149"	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.619C>A	19.37:g.36230713G>T	ENSP00000466181:p.Pro207Thr		Q8N5X0	Missense_Mutation	SNP	superfamily_DEATH-like_dom	p.P207T	ENST00000592537.1	37	c.619	CCDS12472.1	19	.	.	.	.	.	.	.	.	.	.	G	8.210	0.800052	0.16397	.	.	ENSG00000126246	ENST00000246532	D	0.96774	-4.12	5.08	-0.0863	0.13682	.	0.769359	0.11551	N	0.552781	D	0.88629	0.6488	N	0.17082	0.46	0.09310	N	0.999997	B	0.19583	0.037	B	0.21917	0.037	T	0.77310	-0.2635	10	0.11182	T	0.66	-2.33	4.1999	0.10460	0.2929:0.0:0.5437:0.1633	.	207	Q9H665	IGFR1_HUMAN	T	207	ENSP00000246532:P207T	ENSP00000246532:P207T	P	-	1	0	IGFLR1	40922553	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.358000	0.20216	-0.083000	0.12618	0.462000	0.41574	CCC	0	NULL		0.607	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	IGFLR1	protein_coding	OTTHUMT00000459077.1	23	84	0	0.00	0	0	G	NM_024660	0	0		36230713	-1	no_errors	ENST00000246532	ensembl	human	known	74_37	missense	12	66	55.56	48.84	15	63	SNP	0	T	T	36230713	G	T	36230713	3	4	101	1	0	0	0	0	1	0	0	0	16059	1232	43	5	456	5	TMEM149	19	36230713	Missense_Mutation	SNP	G	TCGA-ZB-A96C-01A-11D-A428-09		36230713	22898270	21	2013											
PTH2	113091	genome.wustl.edu	37	chr19	49926530	49926531	+	In_Frame_Ins	INS	-	-	CAGAAG																															cggacgccccagggcaccacINScagcagcagcagcagcagca																								rs371950649|rs112077618	byFrequency	TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	-	-	-	CAGAAG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr19:49926530_49926531insCAGAAG	ENST00000270631.1	-	1	167_168	c.66_67insCTTCTG	c.(64-69)ctggtg>ctgCTTCTGgtg	p.21_22insLL	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	21					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		CAGGGCACCACcagcagcagca	0.688																																							0											0																																										SO:0001652	inframe_insertion	0			AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"Endogenous ligands"	30828	protein-coding gene	gene with protein product	"tuberoinfundibular 39 residues"	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.66_67insCTTCTG	19.37:g.49926530_49926531insCAGAAG	ENSP00000270631:p.Leu20_Leu21dup		Q96DJ4	In_Frame_Ins	INS	NULL	p.22in_frame_insLL	ENST00000270631.1	37	c.67_66	CCDS12763.1	19																																																																																			0	NULL		0.688	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2	protein_coding	OTTHUMT00000465366.1	77	29	0	0.00	0	0	0	NM_178449	0	0		49926531	-1	no_errors	ENST00000270631	ensembl	human	known	74_37	in_frame_ins	60	34	21.05	15.00	16	6	INS	0.016:0.016	CAGAAG	CAGAAG	49926531	-	CAGAAG	49926530	7	5	101	1	0	1	1	0	0	0	0	0	12759	507	18	0	243	0	PTH2	19	49926530	In_Frame_Ins	INS	-	TCGA-ZB-A96C-01A-11D-A428-09	13695817	49926530	9202453	22	2014	12	2									
PTH2	113091	genome.wustl.edu	37	chr19	49926534	49926534	+	Silent	SNP	C	C	A																															acgccccagggcaccaccagCagcagcagcagcagcagcag																								rs371950649		TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr19:49926534C>A	ENST00000270631.1	-	1	164	c.63G>T	c.(61-63)ctG>ctT	p.L21L	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	21					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GCACCACcagcagcagcagca	0.692																																							0											0													12	16	14					19																	49926534		2192	4283	6475	SO:0001819	synonymous_variant	0			AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"Endogenous ligands"	30828	protein-coding gene	gene with protein product	"tuberoinfundibular 39 residues"	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.63G>T	19.37:g.49926534C>A			Q96DJ4	Silent	SNP	NULL	p.L21	ENST00000270631.1	37	c.63	CCDS12763.1	19																																																																																			0	NULL		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2	protein_coding	OTTHUMT00000465366.1	80	29	0	0.00	0	0	C	NM_178449	0	0		49926534	-1	no_errors	ENST00000270631	ensembl	human	known	74_37	silent	64	33	17.95	15.38	14	6	SNP	0.057	A	A	49926534	C	A	49926534	2	1	101	1	0	0	0	0	0	0	0	1	12759	697	25	5		5	PTH2	19	49926534	Silent	SNP	C	TCGA-ZB-A96C-01A-11D-A428-09	4	49926534	9202449	23	2015	12	2									
ATP9A	10079	genome.wustl.edu	37	chr20	50221408	50221408	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtagcaggccaggctgagCagctccgccactgtcatgag	9	7	13	12	1	1	2	1	2	0	0	2	2	2	2	3	2	3	5	3	2	1	1			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chr20:50221408C>G	ENST00000338821.5	-	27	3219	c.2955G>C	c.(2953-2955)ctG>ctC	p.L985L	ATP9A_ENST00000311637.5_Silent_p.L849L|ATP9A_ENST00000402822.1_Silent_p.L864L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	985					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						CCAGGCTGAGCAGCTCCGCCA	0.587																																							0											0													56	43	47					20																	50221408		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2955G>C	20.37:g.50221408C>G			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	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.L985	ENST00000338821.5	37	c.2955	CCDS33489.1	20																																																																																			0	tigrfam_ATPase_P-typ_Plipid-transp		0.587	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	protein_coding	OTTHUMT00000106494.1	41	72	0	0.00	0	0	C	NM_006045	0	0		50221408	-1	no_errors	ENST00000338821	ensembl	human	known	74_37	silent	26	43	35	31.75	14	20	SNP	1	G	G	50221408	C	G	50221408	2	3	101	1	0	0	0	0	0	0	0	1	1198	697	25	5		5	ATP9A	20	50221408	Silent	SNP	C	TCGA-ZB-A96C-01A-11D-A428-09		50221408	12804112	24	2016											
MXRA5	25878	genome.wustl.edu	37	chrX	3235593	3235593	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataacggggggcagtgcCgccacgtgcaggcggatggc	7	5	19	10	4	0	0	0	0	0	0	0	2	0	2	2	7	3	2	2	7	1	1			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chrX:3235593C>G	ENST00000217939.6	-	6	6283	c.6129G>C	c.(6127-6129)gcG>gcC	p.A2043A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2043						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)				GGGGCAGTGCCGCCACGTGCA	0.637																																							0											0													26	22	23					X																	3235593		2201	4298	6499	SO:0001819	synonymous_variant	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6129G>C	X.37:g.3235593C>G			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.A2043	ENST00000217939.6	37	c.6129	CCDS14124.1	X																																																																																			0	smart_Ig_sub		0.637	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	75	21	0	0.00	0	0	C	NM_015419	0	0		3235593	-1	no_errors	ENST00000217939	ensembl	human	known	74_37	silent	31	18	42.59	47.06	23	16	SNP	0.042	G	G	3235593	C	G	3235593	2	3	101	1	0	0	0	0	0	0	0	1	10003	639	23	5		5	MXRA5	23	3235593	Silent	SNP	C	TCGA-ZB-A96C-01A-11D-A428-09		3235593	152034967	25	2017											
PHEX	5251	genome.wustl.edu	37	chrX	22129592	22129592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgttaacaggaccattGccaactatttggtgtggaga	10	13	10	8	0	1	1	0	0	1	1	2	3	1	2	2	3	3	1	2	3	3	4			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chrX:22129592G>A	ENST00000379374.4	+	10	1652	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	PHEX_ENST00000418858.3_Missense_Mutation_p.A66T|PHEX_ENST00000537599.1_Missense_Mutation_p.A363T|PHEX_ENST00000535894.1_Missense_Mutation_p.A266T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	363				A -> D (in Ref. 9; AAC50552). {ECO:0000305}.	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						CAGGACCATTGCCAACTATTT	0.408																																							0											0													205	194	197					X																	22129592		2203	4300	6503	SO:0001583	missense	0			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.1087G>A	X.37:g.22129592G>A	ENSP00000368682:p.Ala363Thr		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A363T	ENST00000379374.4	37	c.1087	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764444	0.89932	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.72	5.72	0.89469	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.69307	0.937;0.963	T	0.80013	-0.1560	10	0.13853	T	0.58	-1.5286	18.5109	0.90916	0.0:0.0:1.0:0.0	.	363;363	F5GXU4;P78562	.;PHEX_HUMAN	T	363;363;266;66	ENSP00000368682:A363T;ENSP00000440362:A363T;ENSP00000439418:A266T;ENSP00000443531:A66T	ENSP00000368682:A363T	A	+	1	0	PHEX	22039513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.944000	0.87722	2.413000	0.81919	0.600000	0.82982	GCC	0	pfam_Peptidase_M13_N		0.408	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	protein_coding	OTTHUMT00000056035.1	83	246	0	0.81	0	2	G	NM_000444	0	0		22129592	1	no_errors	ENST00000379374	ensembl	human	known	74_37	missense	45	127	34.78	36.00	24	72	SNP	1	A	A	22129592	G	A	22129592	3	1	101	1	0	0	0	0	1	0	0	0	11819	1319	46	3	1125	3	PHEX	23	22129592	Missense_Mutation	SNP	G	TCGA-ZB-A96C-01A-11D-A428-09	18893999	22129592	133140968	26	2018											
RPGR	6103	genome.wustl.edu	37	chrX	38146390	38146390	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgataggatctctgttttcTcctttcttcctccatgcacc	5	17	5	14	0	3	1	0	1	3	0	7	2	5	2	4	1	1	2	4	1	1	5			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chrX:38146390T>C	ENST00000339363.3	-	14	2644	c.2477A>G	c.(2476-2478)gAg>gGg	p.E826G	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.E559G|RPGR_ENST00000318842.7_Missense_Mutation_p.E621G|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000378505.2_Missense_Mutation_p.E621G|RPGR_ENST00000342811.3_Missense_Mutation_p.E621G			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	826	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTCTGTTttctcctttcttcc	0.463																																							0											0													212	140	164					X																	38146390		2202	4300	6502	SO:0001583	missense	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2477A>G	X.37:g.38146390T>C	ENSP00000343671:p.Glu826Gly		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E621G	ENST00000339363.3	37	c.1862		X	.	.	.	.	.	.	.	.	.	.	t	9.683	1.149810	0.21288	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T	0.40476	2.22;2.54;2.15;1.03;1.07	3.17	3.17	0.36434	.	0.379473	0.08080	U	1.000000	T	0.27349	0.0671	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.27229	0.107;0.172	B;B	0.25987	0.03;0.065	T	0.25467	-1.0131	10	0.28530	T	0.3	.	3.3967	0.07308	0.0:0.1349:0.2356:0.6296	.	621;621	E9PE28;Q92834-2	.;.	G	826;559;621;621;621	ENSP00000343671:E826G;ENSP00000308783:E559G;ENSP00000322219:E621G;ENSP00000339531:E621G;ENSP00000367766:E621G	ENSP00000308783:E559G	E	-	2	0	RPGR	38031334	0.006000	0.16342	0.009000	0.14445	0.086000	0.17979	1.679000	0.37597	1.105000	0.41606	0.393000	0.25936	GAG	0	NULL		0.463	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	protein_coding		20	244	0	0.00	0	0	T	NM_000328	0	0		38146390	-1	no_errors	ENST00000378505	ensembl	human	known	74_37	missense	11	113	38.89	44.33	7	90	SNP	0.059	C	C	38146390	T	C	38146390	3	2	101	1	0	0	0	0	1	0	0	0	13548	1551	54	4	2159	4	RPGR	23	38146390	Missense_Mutation	SNP	T	TCGA-ZB-A96C-01A-11D-A428-09	16016798	38146390	117124170	27	2019											
GPR173	54328	genome.wustl.edu	37	chrX	53106206	53106206	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcttctacgccaagcgcAtgacactctggacatgcgcg	9	7	10	15	5	2	1	0	1	2	0	2	2	2	2	2	1	3	2	2	1	2	2			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chrX:53106206A>G	ENST00000332582.4	+	2	894	c.403A>G	c.(403-405)Atg>Gtg	p.M135V		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	135					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						CGCCAAGCGCATGACACTCTG	0.582																																							0											0													62	48	52					X																	53106206		2203	4300	6503	SO:0001583	missense	0			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.403A>G	X.37:g.53106206A>G	ENSP00000331600:p.Met135Val		B1B0A5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.M135V	ENST00000332582.4	37	c.403	CCDS14349.1	X	.	.	.	.	.	.	.	.	.	.	A	11.72	1.724244	0.30593	.	.	ENSG00000184194	ENST00000332582	T	0.39406	1.08	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	M	0.64567	1.98	0.52501	D	0.999952	B	0.28026	0.198	B	0.28011	0.085	T	0.12400	-1.0549	10	0.14252	T	0.57	-11.4851	10.3422	0.43884	1.0:0.0:0.0:0.0	.	135	Q9NS66	GP173_HUMAN	V	135	ENSP00000331600:M135V	ENSP00000331600:M135V	M	+	1	0	GPR173	53122931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.094000	0.64523	1.560000	0.49568	0.430000	0.28490	ATG	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.582	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	protein_coding	OTTHUMT00000056717.2	16	28	0	0.00	0	0	A	NM_018969	0	0		53106206	1	no_errors	ENST00000332582	ensembl	human	known	74_37	missense	5	19	66.67	26.92	10	7	SNP	1	G	G	53106206	A	G	53106206	3	3	101	1	0	0	0	0	1	0	0	0	6671	217	8	3	405	3	GPR173	23	53106206	Missense_Mutation	SNP	A	TCGA-ZB-A96C-01A-11D-A428-09	14959816	53106206	102164354	28	2020											
TMEM185A	84548	genome.wustl.edu	37	chrX	148692970	148692970	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtataaagcagtattacCgatattgaggatttcgtgcc	11	14	10	6	2	0	1	0	1	0	0	1	3	0	2	2	1	3	4	2	1	6	8			TCGA-ZB-A96C-01A-11D-A428-09	TCGA-ZB-A96C-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	12bc7f4b-7163-4b87-93e5-69c4dc232c36	a391c3fe-3d7d-4a3d-bd29-b4ef22e6b929	g.chrX:148692970C>T	ENST00000316916.8	-	2	519	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	TMEM185A_ENST00000507237.1_Splice_Site_p.R72Q|TMEM185A_ENST00000536359.1_Intron	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	72						dendrite (GO:0030425)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCAGTATTACCGATATTGAGG	0.418																																							0											0													233	230	231					X																	148692970		2203	4299	6502	SO:0001630	splice_region_variant	0			AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"chromosome X open reading frame 13", "family with sequence similarity 11, member A"	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.215+1G>A	X.37:g.148692970C>T			B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	pfam_TM_Fragile-X-F-assoc	p.R72Q	ENST00000316916.8	37	c.215	CCDS14689.1	X	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911811	0.92178	.	.	ENSG00000155984	ENST00000316916;ENST00000507237	T;T	0.49139	1.7;0.79	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.68595	0.3018	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70842	-0.4762	9	.	.	.	.	16.2802	0.82672	0.0:1.0:0.0:0.0	.	72	Q8NFB2	T185A_HUMAN	Q	72	ENSP00000359449:R72Q;ENSP00000427766:R72Q	.	R	-	2	0	TMEM185A	148500771	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.249000	0.78278	2.040000	0.60383	0.594000	0.82650	CGA	0	pfam_TM_Fragile-X-F-assoc		0.418	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM185A	protein_coding	OTTHUMT00000058710.4	168	239	0	0.00	0	0	C	NM_032508	0	0	Missense_Mutation	148692970	-1	no_errors	ENST00000316916	ensembl	human	known	74_37	missense	84	120	39.57	42.58	55	89	SNP	1	T	T	148692970	C	T	148692970	5	4	101	1	0	0	0	0	0	0	1	0	16104	666	23	2	861	2	TMEM185A	23	148692970	Splice_Site	SNP	C	TCGA-ZB-A96C-01A-11D-A428-09	95586764	148692970	6577590	29	2021											
HNRNPR	10236	genome.wustl.edu	37	chr1	23650155	23650155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taagacgtagatcccaaatgGgtccggccttctcaaaaagg	13	8	10	10	2	1	2	1	0	1	2	4	2	3	2	3	3	0	1	3	3	5	3			TCGA-ZB-A96D-01A-11D-A428-09	TCGA-ZB-A96D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e5ab7dc0-9391-4515-8704-bea54cd0a647	64032bf9-77c9-4ca2-b1e0-2208c9a7e1bd	g.chr1:23650155G>A	ENST00000374612.1	-	6	692	c.569C>T	c.(568-570)cCc>cTc	p.P190L	HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000374616.3_Missense_Mutation_p.P190L|HNRNPR_ENST00000302271.6_Missense_Mutation_p.P190L|HNRNPR_ENST00000478691.1_Missense_Mutation_p.P89L|HNRNPR_ENST00000606561.1_Missense_Mutation_p.P51L|HNRNPR_ENST00000427764.2_Missense_Mutation_p.P152L	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	190	RRM 1. {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)|cytoplasm (GO:0005737)|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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ATCCCAAATGGGTCCGGCCTT	0.448																																							0											0													99	101	101					1																	23650155		2203	4300	6503	SO:0001583	missense	0			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.569C>T	1.37:g.23650155G>A	ENSP00000363741:p.Pro190Leu		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.P190L	ENST00000374612.1	37	c.569	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579240	0.65878	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764	T;T;T;T	0.45276	0.9;0.9;0.9;1.21	5.14	5.14	0.70334	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.096580	0.64402	D	0.000001	T	0.65260	0.2674	M	0.82132	2.575	0.80722	D	1	D;B;B;B;B	0.56746	0.977;0.127;0.052;0.149;0.021	D;B;B;B;B	0.65233	0.933;0.173;0.115;0.122;0.039	T	0.65541	-0.6143	10	0.39692	T	0.17	-1.6103	17.5397	0.87843	0.0:0.0:1.0:0.0	.	152;51;167;190;190	Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;HNRPR_HUMAN;.	L	190;190;190;152	ENSP00000363745:P190L;ENSP00000363741:P190L;ENSP00000304405:P190L;ENSP00000392799:P152L	ENSP00000304405:P190L	P	-	2	0	HNRNPR	23522742	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.695000	0.98691	2.567000	0.86603	0.561000	0.74099	CCC	0	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.448	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	protein_coding	OTTHUMT00000008889.1	104	192	0	0.52	0	1	G	NM_005826	0	0		23650155	-1	no_errors	ENST00000374616	ensembl	human	known	74_37	missense	69	143	8	6.45	6	10	SNP	1	A	A	23650155	G	A	23650155	3	1	102	1	0	0	0	0	1	0	0	0	7272	1232	43	3	1365	3	HNRNPR	1	23650155	Missense_Mutation	SNP	G	TCGA-ZB-A96D-01A-11D-A428-09		23650155	225600466	1	2022											
KCNT2	343450	genome.wustl.edu	37	chr1	196438174	196438174	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaagatgaagggtattcGtaaaatctgttcccagatgt	12	13	9	7	1	1	3	0	1	1	2	4	3	3	3	2	1	0	3	2	1	5	5			TCGA-ZB-A96D-01A-11D-A428-09	TCGA-ZB-A96D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e5ab7dc0-9391-4515-8704-bea54cd0a647	64032bf9-77c9-4ca2-b1e0-2208c9a7e1bd	g.chr1:196438174G>A	ENST00000294725.9	-	6	1324	c.409C>T	c.(409-411)Cga>Tga	p.R137*	KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R137*|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.R137*|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.R137*|KCNT2_ENST00000451324.2_De_novo_Start_InFrame			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	137					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						AAGGGTATTCGTAAAATCTGT	0.333																																							0											0													43	44	43					1																	196438174		2199	4295	6494	SO:0001587	stop_gained	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.409C>T	1.37:g.196438174G>A	ENSP00000294725:p.Arg137*		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.R137*	ENST00000294725.9	37	c.409	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.252061	0.97412	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	5.41	4.49	0.54785	.	0.000000	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-12.272	14.4884	0.67634	0.0:0.0:0.8516:0.1484	.	.	.	.	X	137	.	ENSP00000294725:R137X	R	-	1	2	KCNT2	194704797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.754000	0.55189	1.490000	0.48466	0.557000	0.71058	CGA	0	NULL		0.333	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	protein_coding	OTTHUMT00000086418.2	318	191	0.31	0.52	1	1	G	NM_198503	0	0		196438174	-1	no_errors	ENST00000294725	ensembl	human	known	74_37	nonsense	196	153	7.11	10.00	15	17	SNP	1	A	A	196438174	G	A	196438174	4	1	102	1	0	0	0	0	0	1	0	0	8092	1153	40	1	3090	1	KCNT2	1	196438174	Nonsense_Mutation	SNP	G	TCGA-ZB-A96D-01A-11D-A428-09	172788019	196438174	52812447	2	2023											
WNT9A	7483	genome.wustl.edu	37	chr1	228112027	228112027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgctccatgcggcccgCgctgcacgccttggccagtg	5	6	13	17	5	0	0	0	0	0	0	1	0	1	0	4	2	3	3	4	2	0	1			TCGA-ZB-A96D-01A-11D-A428-09	TCGA-ZB-A96D-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e5ab7dc0-9391-4515-8704-bea54cd0a647	64032bf9-77c9-4ca2-b1e0-2208c9a7e1bd	g.chr1:228112027C>T	ENST00000272164.5	-	3	437	c.427G>A	c.(427-429)Gcg>Acg	p.A143T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	143					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				ATGCGGCCCGCGCTGCACGCC	0.652																																							0											0													72	72	72					1																	228112027		2203	4300	6503	SO:0001583	missense	0			AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"Wingless-type MMTV integration sites"	12778	protein-coding gene	gene with protein product		602863	"wingless-type MMTV integration site family, member 14"	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.427G>A	1.37:g.228112027C>T	ENSP00000272164:p.Ala143Thr		A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a	p.A143T	ENST00000272164.5	37	c.427	CCDS31045.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344867	0.82022	.	.	ENSG00000143816	ENST00000272164	T	0.75704	-0.96	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.41492	1.28	0.51767	D	0.999937	P	0.52061	0.95	P	0.44732	0.459	T	0.71879	-0.4459	10	0.39692	T	0.17	.	17.0645	0.86556	0.0:1.0:0.0:0.0	.	143	O14904	WNT9A_HUMAN	T	143	ENSP00000272164:A143T	ENSP00000272164:A143T	A	-	1	0	WNT9A	226178650	1.000000	0.71417	0.115000	0.21578	0.904000	0.53231	4.861000	0.62969	2.267000	0.75376	0.491000	0.48974	GCG	0	pfam_Wnt,smart_Wnt,prints_Wnt		0.652	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9A	protein_coding	OTTHUMT00000091646.1	49	22	0	0.00	0	0	C	NM_003395	0	0		228112027	-1	no_errors	ENST00000272164	ensembl	human	known	74_37	missense	45	10	8.16	0.00	4	0	SNP	0.947	T	T	228112027	C	T	228112027	3	4	102	1	0	0	0	0	1	0	0	0	17395	768	27	1	678	1	WNT9A	1	228112027	Missense_Mutation	SNP	C	TCGA-ZB-A96D-01A-11D-A428-09	31673853	228112027	21138594	3	2024											
EOMES	8320	genome.wustl.edu	37	chr3	27763427	27763428	+	In_Frame_Ins	INS	-	-	CGGCGC																															ggcggcggcggcggcggcggINSctgcagcggcggagggcagc																								rs368178421|rs1874198|rs3062761	byFrequency	TCGA-ZB-A96D-01A-11D-A428-09	TCGA-ZB-A96D-10A-01D-A42B-09	-	-	-	CGGCGC	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e5ab7dc0-9391-4515-8704-bea54cd0a647	64032bf9-77c9-4ca2-b1e0-2208c9a7e1bd	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						0.4635,.,0.5361,0.0003994											0										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				SO:0001652	inframe_insertion	0			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		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																																																																																			0	NULL		0.767	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	protein_coding	OTTHUMT00000252995.1	11	2	0	0.00	0	0	0	NM_005442	rs368178421	G->GCGC,GCGGCGC,GCGGCGGCGC		27763428	-1	no_errors	ENST00000449599	ensembl	human	known	74_37	in_frame_ins	4	3	42.86	50.00	3	3	INS	0.116:0.075	CGGCGC	CGGCGC	27763428	-	CGGCGC	27763427	7	5	102	1	0	1	1	0	0	0	0	0	5147	1203	42	0	1725	0	EOMES	3	27763427	In_Frame_Ins	INS	-	TCGA-ZB-A96D-01A-11D-A428-09		27763427	170259003	4	2025											
PSMD2	5708	genome.wustl.edu	37	chr3	184017113	184017113	+	Frame_Shift_Del	DEL	C	C	-																															ccagcagtctccagcggcggCccccggcggcacggacgaga																										TCGA-ZB-A96D-01A-11D-A428-09	TCGA-ZB-A96D-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e5ab7dc0-9391-4515-8704-bea54cd0a647	64032bf9-77c9-4ca2-b1e0-2208c9a7e1bd	g.chr3:184017113delC	ENST00000310118.4	+	1	617	c.59delC	c.(58-60)gccfs	p.A20fs	PSMD2_ENST00000459910.1_3'UTR|PSMD2_ENST00000435761.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_5'Flank	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	20					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)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CCAGCGGCGGCCCCCGGCGGC	0.751																																					Colon(24;313 636 6917 9932 15554)		0											0													3	7	6					3																	184017113		1418	2791	4209	SO:0001589	frameshift_variant	0			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.59delC	3.37:g.184017113delC	ENSP00000310129:p.Ala20fs		B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Frame_Shift_Del	DEL	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	p.G22fs	ENST00000310118.4	37	c.59	CCDS3258.1	3																																																																																			0	pirsf_26S_Psome_Rpn1		0.751	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD2	protein_coding	OTTHUMT00000345843.1	10	23	0	0.00	0	0	C	NM_002808	0	0		184017113	1	no_errors	ENST00000310118	ensembl	human	known	74_37	frame_shift_del	4	10	33.33	0.00	2	0	DEL	0.002	0	-	184017113	C	-	184017113	7	5	102	1	0	1	0	1	0	0	0	0	12698	739	26	0	61	0	PSMD2	3	184017113	Frame_Shift_Del	DEL	C	TCGA-ZB-A96D-01A-11D-A428-09	156253686	184017113	14005317	5	2026											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A96D-01A-11D-A428-09	TCGA-ZB-A96D-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e5ab7dc0-9391-4515-8704-bea54cd0a647	64032bf9-77c9-4ca2-b1e0-2208c9a7e1bd	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	531	153	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	318	95	10.67	5.00	38	5	SNP	1	A	A	74146970	T	A	74146970	3	1	102	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A96D-01A-11D-A428-09		74146970	84991693	6	2027											
CALCA	796	genome.wustl.edu	37	chr11	14991621	14991621	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctgctctccagggcagaCctgtggaggggaagcaaact	9	6	16	10	0	1	1	0	0	1	1	2	3	1	3	2	5	3	4	2	5	2	0	rs556800566		TCGA-ZB-A96D-01A-11D-A428-09	TCGA-ZB-A96D-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e5ab7dc0-9391-4515-8704-bea54cd0a647	64032bf9-77c9-4ca2-b1e0-2208c9a7e1bd	g.chr11:14991621C>T	ENST00000486207.1	-	2	95	c.87G>A	c.(85-87)agG>agA	p.R29R	CALCA_ENST00000331587.4_Splice_Site_p.R29R|CALCA_ENST00000359642.3_Splice_Site_p.R29R|CALCA_ENST00000396372.2_Splice_Site_p.R29R|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Splice_Site_p.R29R			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	29					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						CCAGGGCAGACCTGTGGAGGG	0.632																																							0											0													33	34	34					11																	14991621		2200	4294	6494	SO:0001630	splice_region_variant	0			X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"Endogenous ligands"	1437	protein-coding gene	gene with protein product	"calcitonin"	114130	"calcitonin 1"	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.87-1G>A	11.37:g.14991621C>T			Q93048|Q9UCP0	Silent	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin	p.R29	ENST00000486207.1	37	c.87	CCDS31432.1	11																																																																																			0	pfam_Procalcitonin/adrenomedullin		0.632	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CALCA	protein_coding	OTTHUMT00000357068.1	56	5	0	0.00	0	0	C	NM_001741	0	0	Silent	14991621	-1	no_errors	ENST00000331587	ensembl	human	known	74_37	silent	25	6	13.79	0.00	4	0	SNP	0.121	T	T	14991621	C	T	14991621	5	4	102	1	0	0	0	0	0	0	1	0	2575	521	18	3	510	3	CALCA	11	14991621	Splice_Site	SNP	C	TCGA-ZB-A96D-01A-11D-A428-09		14991621	120014895	7	2028											
GPRC5C	55890	genome.wustl.edu	37	chr17	72428280	72428280	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgagtcggctcagcctggaGgtgagtcggggcggggaggg	6	5	22	8	4	1	1	1	1	0	0	3	4	1	3	1	8	1	1	1	8	0	0			TCGA-ZB-A96D-01A-11D-A428-09	TCGA-ZB-A96D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e5ab7dc0-9391-4515-8704-bea54cd0a647	64032bf9-77c9-4ca2-b1e0-2208c9a7e1bd	g.chr17:72428280G>A	ENST00000481232.1	+	1	614	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392627.1_Splice_Site_p.G35R|GPRC5C_ENST00000392629.2_5'Flank			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						TCAGCCTGGAGGTGAGTCGGG	0.672																																							0											0													31	27	28					17																	72428280		2192	4295	6487	SO:0001630	splice_region_variant	0			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.103+1G>A	17.37:g.72428280G>A			B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.G35R	ENST00000481232.1	37	c.103		17	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014542	0.35511	.	.	ENSG00000170412	ENST00000342648	.	.	.	4.84	3.8	0.43715	.	0.430307	0.19232	N	0.119387	T	0.57198	0.2037	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54543	-0.8278	6	0.38643	T	0.18	.	7.2048	0.25901	0.1229:0.0:0.8771:0.0	.	.	.	.	R	35	.	ENSP00000340595:G35R	G	+	1	0	GPRC5C	69939875	0.995000	0.38212	1.000000	0.80357	0.684000	0.39900	0.943000	0.29030	2.506000	0.84524	0.462000	0.41574	GGG	0	NULL		0.672	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	GPRC5C	protein_coding	OTTHUMT00000145095.2	54	88	0	0.00	0	0	G		0	0	Missense_Mutation	72428280	1	no_errors	ENST00000392627	ensembl	human	known	74_37	missense	18	79	18.18	11.24	4	10	SNP	1	A	A	72428280	G	A	72428280	5	1	102	1	0	0	0	0	0	0	1	0	6726	1014	35	3	105	3	GPRC5C	17	72428280	Splice_Site	SNP	G	TCGA-ZB-A96D-01A-11D-A428-09		72428280	8766930	8	2029											
ZC3H4	23211	genome.wustl.edu	37	chr19	47569869	47569869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagccttgggccggggccggTtgtagctgttgtatctgtcc	3	12	15	11	2	1	0	0	0	1	0	2	0	2	0	4	4	2	5	4	4	2	5			TCGA-ZB-A96D-01A-11D-A428-09	TCGA-ZB-A96D-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e5ab7dc0-9391-4515-8704-bea54cd0a647	64032bf9-77c9-4ca2-b1e0-2208c9a7e1bd	g.chr19:47569869T>C	ENST00000253048.5	-	15	3693	c.3656A>G	c.(3655-3657)aAc>aGc	p.N1219S	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1219							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCGGGGCCGGTTGTAGCTGTT	0.711																																							0											0													12	15	14					19																	47569869		1604	3522	5126	SO:0001583	missense	0			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3656A>G	19.37:g.47569869T>C	ENSP00000253048:p.Asn1219Ser		Q9Y420	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.N1219S	ENST00000253048.5	37	c.3656	CCDS42582.1	19	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180630	0.57800	.	.	ENSG00000130749	ENST00000253048	T	0.18810	2.19	5.74	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	L	0.59436	1.845	0.51767	D	0.999937	D	0.69078	0.997	D	0.75020	0.985	T	0.18085	-1.0348	10	0.11182	T	0.66	.	11.3604	0.49640	0.1362:0.0:0.0:0.8638	.	1219	Q9UPT8	ZC3H4_HUMAN	S	1219	ENSP00000253048:N1219S	ENSP00000253048:N1219S	N	-	2	0	ZC3H4	52261709	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.257000	0.65473	0.988000	0.38734	0.460000	0.39030	AAC	0	NULL		0.711	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZC3H4	protein_coding	OTTHUMT00000466667.1	70	100	0	0.00	0	0	T		0	0		47569869	-1	no_errors	ENST00000253048	ensembl	human	known	74_37	missense	40	97	13.04	6.67	6	7	SNP	1	C	C	47569869	T	C	47569869	3	2	102	1	0	0	0	0	1	0	0	0	17567	1725	60	3	259	3	ZC3H4	19	47569869	Missense_Mutation	SNP	T	TCGA-ZB-A96D-01A-11D-A428-09		47569869	11559114	9	2030											
PLXNB2	23654	genome.wustl.edu	37	chr22	50715077	50715077	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggaaatctctgccaggTgtgtgttcatgtcctggtcg	5	12	13	11	2	2	0	1	0	1	0	5	1	3	1	3	3	1	1	3	3	1	1			TCGA-ZB-A96D-01A-11D-A428-09	TCGA-ZB-A96D-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e5ab7dc0-9391-4515-8704-bea54cd0a647	64032bf9-77c9-4ca2-b1e0-2208c9a7e1bd	g.chr22:50715077T>A	ENST00000449103.1	-	35	5458	c.5318A>T	c.(5317-5319)cAc>cTc	p.H1773L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.H1773L			O15031	PLXB2_HUMAN	plexin B2	1773					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)		CTCTGCCAGGTGTGTGTTCAT	0.637											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													114	130	125					22																	50715077		2115	4231	6346	SO:0001583	missense	0				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.5318A>T	22.37:g.50715077T>A	ENSP00000409171:p.His1773Leu	971	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.H1773L	ENST00000449103.1	37	c.5318	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132735	0.56828	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.10763	2.84;2.84	3.98	3.98	0.46160	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.20780	0.0500	L	0.42744	1.35	0.54753	D	0.999981	D	0.71674	0.998	D	0.74674	0.984	T	0.04781	-1.0927	10	0.12766	T	0.61	.	13.0403	0.58895	0.0:0.0:0.0:1.0	.	1773	O15031	PLXB2_HUMAN	L	1773	ENSP00000409171:H1773L;ENSP00000352288:H1773L	ENSP00000352288:H1773L	H	-	2	0	PLXNB2	49057204	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	4.405000	0.59741	1.663000	0.50791	0.379000	0.24179	CAC	0	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.637	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	protein_coding	OTTHUMT00000316874.3	30	154	0	0.00	0	0	T	NM_012401	0	0		50715077	-1	no_errors	ENST00000359337	ensembl	human	known	74_37	missense	27	116	12.9	7.94	4	10	SNP	1	A	A	50715077	T	A	50715077	3	1	102	1	0	0	0	0	1	0	0	0	12124	1696	59	5	210	5	PLXNB2	22	50715077	Missense_Mutation	SNP	T	TCGA-ZB-A96D-01A-11D-A428-09		50715077	589489	10	2031											
MTMR1	8776	genome.wustl.edu	37	chrX	149931163	149931163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgagcggggctcctcGccctcccactccgccacctc	4	8	8	21	3	2	1	1	1	1	0	7	1	5	1	6	2	1	1	6	2	0	0	rs143691344	byFrequency	TCGA-ZB-A96D-01A-11D-A428-09	TCGA-ZB-A96D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e5ab7dc0-9391-4515-8704-bea54cd0a647	64032bf9-77c9-4ca2-b1e0-2208c9a7e1bd	g.chrX:149931163G>A	ENST00000370390.3	+	15	2116	c.1959G>A	c.(1957-1959)tcG>tcA	p.S653S	MTMR1_ENST00000541925.1_Silent_p.S559S|MTMR1_ENST00000445323.2_Silent_p.S661S|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Silent_p.S653S	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	653					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)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCTCCTCGCCCTCCCACT	0.687																																							0											0										10,3825		0,9,1,1623,570	41	39	40		1959	-10.3	0	X	dbSNP_134	40	0,6726		0,0,0,2427,1872	no	coding-synonymous	MTMR1	NM_003828.2		0,9,1,4050,2442	AA,AG,A,GG,G		0.0,0.2608,0.0947		653/666	149931163	10,10551	2203	4299	6502	SO:0001819	synonymous_variant	0			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1959G>A	X.37:g.149931163G>A			A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.S661	ENST00000370390.3	37	c.1983	CCDS14695.1	X																																																																																			0	NULL		0.687	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR1	protein_coding	OTTHUMT00000060863.2	43	54	0	0.00	0	0	G	NM_003828, NM_176789	rs143691344	G->A		149931163	1	no_errors	ENST00000445323	ensembl	human	known	74_37	silent	22	34	15.38	8.11	4	3	SNP	0.002	A	A	149931163	G	A	149931163	2	1	102	1	0	0	0	0	0	0	0	1	9938	1074	38	1		1	MTMR1	23	149931163	Silent	SNP	G	TCGA-ZB-A96D-01A-11D-A428-09		149931163	5339397	11	2032											
EXOSC10	5394	genome.wustl.edu	37	chr1	11158195	11158195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgccttggtgactgccaCcacggacccaagagcaaact	12	6	10	13	1	0	3	0	1	0	2	0	4	0	4	4	2	4	1	4	2	2	1			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr1:11158195C>A	ENST00000376936.4	-	2	179	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	EXOSC10_ENST00000304457.7_Missense_Mutation_p.V44L|RP4-635E18.6_ENST00000435388.1_RNA|RP4-635E18.6_ENST00000447600.1_RNA|EXOSC10_ENST00000544779.1_Missense_Mutation_p.V44L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	44					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)	p.V44L(1)		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)		GTGACTGCCACCACGGACCCA	0.448																																					Colon(179;105 1987 14326 27364 29542)		0											1	Substitution - Missense(1)	lung(1)											64	61	62					1																	11158195		2203	4300	6503	SO:0001583	missense	0			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.130G>T	1.37:g.11158195C>A	ENSP00000366135:p.Val44Leu		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	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.V44L	ENST00000376936.4	37	c.130	CCDS30584.1	1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371098	0.42003	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.73	3.71	0.42584	Exosome-associated factor Rrp6, N-terminal (1);	0.175303	0.48767	N	0.000162	T	0.66557	0.2801	M	0.66506	2.035	0.58432	D	0.999991	B;B	0.16603	0.018;0.011	B;B	0.20577	0.024;0.03	T	0.66874	-0.5813	9	0.46703	T	0.11	-14.9517	17.0718	0.86576	0.0:0.7449:0.2551:0.0	.	44;44	Q01780-2;Q01780	.;EXOSX_HUMAN	L	44	.	ENSP00000307307:V44L	V	-	1	0	EXOSC10	11080782	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.719000	0.38011	1.392000	0.46585	0.561000	0.74099	GTG	0	pfam_Exosome-assoc_fac_Rrp6_N		0.448	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	protein_coding	OTTHUMT00000006078.1	49	240	0	0.00	0	0	C	NM_001001998	0	0		11158195	-1	no_errors	ENST00000376936	ensembl	human	known	74_37	missense	46	219	26.98	17.05	17	45	SNP	1	A	A	11158195	C	A	11158195	3	1	103	1	0	0	0	0	1	0	0	0	5314	507	18	5	2623	5	EXOSC10	1	11158195	Missense_Mutation	SNP	C	TCGA-ZB-A96E-01A-11D-A428-09		11158195	238092426	1	2033											
PADI3	51702	genome.wustl.edu	37	chr1	17592171	17592171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatctctctggattgcGacctgaactgtgagggaagg	10	9	13	9	1	2	3	0	2	2	1	3	6	2	5	1	3	2	0	1	3	2	1			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr1:17592171G>T	ENST00000375460.3	+	4	404	c.364G>T	c.(364-366)Gac>Tac	p.D122Y		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	122					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)	TCTGGATTGCGACCTGAACTG	0.567																																							0											0													175	154	161					1																	17592171		2203	4300	6503	SO:0001583	missense	0			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.364G>T	1.37:g.17592171G>T	ENSP00000364609:p.Asp122Tyr		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.D122Y	ENST00000375460.3	37	c.364	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271461	0.59649	.	.	ENSG00000142619	ENST00000375460	T	0.37915	1.17	5.4	5.4	0.78164	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	M	0.88979	2.995	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.74453	-0.3660	10	0.87932	D	0	-39.5115	17.7433	0.88413	0.0:0.0:1.0:0.0	.	122	Q9ULW8	PADI3_HUMAN	Y	122	ENSP00000364609:D122Y	ENSP00000364609:D122Y	D	+	1	0	PADI3	17464758	0.999000	0.42202	0.982000	0.44146	0.336000	0.28762	3.237000	0.51344	2.526000	0.85167	0.655000	0.94253	GAC	0	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.567	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	protein_coding	OTTHUMT00000006805.1	43	167	0	0.00	0	0	G		0	0		17592171	1	no_errors	ENST00000375460	ensembl	human	known	74_37	missense	36	176	18.18	15.79	8	33	SNP	0.998	T	T	17592171	G	T	17592171	3	4	103	1	0	0	0	0	1	0	0	0	11379	1058	37	5	378	5	PADI3	1	17592171	Missense_Mutation	SNP	G	TCGA-ZB-A96E-01A-11D-A428-09	6433976	17592171	231658450	2	2034											
IPP	3652	genome.wustl.edu	37	chr1	46165728	46165728	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggttataaacttcaacTgagtccaaggtacctggagc	12	10	11	8	0	1	2	1	2	0	0	2	3	2	3	2	3	4	2	2	3	6	4			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr1:46165728T>A	ENST00000396478.3	-	9	1767	c.1665A>T	c.(1663-1665)tcA>tcT	p.S555S	RP11-767N6.7_ENST00000430643.1_RNA|IPP_ENST00000495072.1_5'UTR	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	555						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAACTTCAACTGAGTCCAAGG	0.448																																							0											0													156	150	152					1																	46165728		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1665A>T	1.37:g.46165728T>A			A2A6V4|D3DQ11|Q8N5C3	Silent	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.S555	ENST00000396478.3	37	c.1665	CCDS30702.1	1																																																																																			0	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.448	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	protein_coding	OTTHUMT00000021974.3	84	209	0	0.00	0	0	T	NM_005897	0	0		46165728	-1	no_errors	ENST00000396478	ensembl	human	known	74_37	silent	87	213	8.42	8.97	8	21	SNP	0.921	A	A	46165728	T	A	46165728	2	1	103	1	0	0	0	0	0	0	0	1	7800	1567	55	5		5	IPP	1	46165728	Silent	SNP	T	TCGA-ZB-A96E-01A-11D-A428-09	28573557	46165728	203084893	3	2035											
TP53BP2	7159	genome.wustl.edu	37	chr1	224002053	224002053	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcattatccgcaactggacGttctaaagcaaatgagtaga	14	10	8	9	2	2	2	1	1	1	1	3	3	3	3	1	1	2	4	1	1	6	4			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr1:224002053G>A	ENST00000391878.2	-	0	559				TP53BP2_ENST00000343537.7_Missense_Mutation_p.R60C	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2						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)	p.R60C(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCAACTGGACGTTCTAAAGCA	0.383																																							0											1	Substitution - Missense(1)	large_intestine(1)											98	96	97					1																	224002053		1897	4112	6009			0			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	ENST00000391878.2:c.-210C>T	1.37:g.224002053G>A			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.R60C	ENST00000391878.2	37	c.178	CCDS1538.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786413	0.90367	.	.	ENSG00000143514	ENST00000343537	T	0.56776	0.44	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76424	-0.2964	10	0.87932	D	0	.	19.6333	0.95719	0.0:0.0:1.0:0.0	.	60	B4DG66	.	C	60	ENSP00000341957:R60C	ENSP00000341957:R60C	R	-	1	0	TP53BP2	222068676	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.560000	0.67332	2.654000	0.90174	0.563000	0.77884	CGT	0	NULL		0.383	TP53BP2-002	KNOWN	basic|CCDS	protein_coding	TP53BP2	protein_coding	OTTHUMT00000090986.3	75	246	0	0.40	0	1	G	NM_001031685, NM_005426	0	0		224002053	-1	no_errors	ENST00000343537	ensembl	human	known	74_37	missense	41	225	18	19.86	9	56	SNP	1	A	A	224002053	G	A	224002053	1	1	103	1	0	1	0	0	0	0	0	0	16381	1145	40	1		1	TP53BP2	1	224002053	De_novo_Start_OutOfFrame	SNP	G	TCGA-ZB-A96E-01A-11D-A428-09	177836325	224002053	25248568	4	2036											
ATG7	10533	genome.wustl.edu	37	chr3	11383645	11383646	+	Missense_Mutation	DNP	GA	GA	TT																															gtggatctaaatctcaaactGatgtgttggagattggttcc																										TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G|A	G|A	G|A	T	G|A	G|A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr3:11383645_11383646GA>TT	ENST00000354449.3	+	11	1042_1043	c.1017_1018GA>TT	c.(1015-1020)ctGAtg>ctTTtg	p.M340L	ATG7_ENST00000446450.2_Missense_Mutation_p.M301L|ATG7_ENST00000354956.5_Missense_Mutation_p.M340L	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	340					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						ATCTCAAACTGATGTGTTGGAG	0.416																																							0											0																																										SO:0001583	missense	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	Exception_encountered	3.37:g.11383645_11383646delinsTT	ENSP00000346437:p.Met340Leu		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent|Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7	p.L339|p.M340L	ENST00000354449.3	37	c.1017|c.1018	CCDS2605.1	3																																																																																			0	tigrfam_Atg7		0.416	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	protein_coding	OTTHUMT00000251951.3	86|84	237|236	0	0.42|0.00	0	1|0	G|A	NM_006395	0	0		11383645|11383646	1	no_errors	ENST00000354449	ensembl	human	known	74_37	silent|missense	79	201|199	21|20.2	17.62|17.77	21|20	43	SNP	1	T	TT	11383646	GA	TT	11383645	3	4	103	1	0	0	0	0	1	0	0	0	1101	1277	45	5	1055	5	ATG7	3	11383645	Missense_Mutation	DNP	GA	TCGA-ZB-A96E-01A-11D-A428-09		11383645	186638785	5	2037											
LRRFIP2	9209	genome.wustl.edu	37	chr3	37154409	37154409	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagacaacagaactaaccagTaggtctttatgagaatcaga	17	8	9	7	0	2	4	1	1	1	4	2	6	2	4	1	1	3	1	1	1	6	4			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr3:37154409T>A	ENST00000336686.4	-	8	515	c.435A>T	c.(433-435)ctA>ctT	p.L145L	LRRFIP2_ENST00000396428.2_Silent_p.L114L|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000421307.1_Silent_p.L145L			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	145	DVL3-binding.|Ser-rich.				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						AACTAACCAGTAGGTCTTTAT	0.358																																							0											1	Whole gene deletion(1)	ovary(1)											128	128	128					3																	37154409		2203	4300	6503	SO:0001819	synonymous_variant	0			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.435A>T	3.37:g.37154409T>A			A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin	p.L145	ENST00000336686.4	37	c.435	CCDS2664.1	3																																																																																			0	NULL		0.358	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	protein_coding	OTTHUMT00000253335.3	73	155	0	0.00	0	0	T	NM_006309	0	0		37154409	-1	no_errors	ENST00000336686	ensembl	human	known	74_37	silent	60	221	10.45	16.60	7	44	SNP	0.005	A	A	37154409	T	A	37154409	2	1	103	1	0	0	0	0	0	0	0	1	9028	1625	57	5		5	LRRFIP2	3	37154409	Silent	SNP	T	TCGA-ZB-A96E-01A-11D-A428-09	25770764	37154409	160868021	6	2038											
PLEKHG4B	153478	genome.wustl.edu	37	chr5	174164	174164	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagaggtcaagagtgcatgGaccgatgtcatagggaggat	12	7	16	6	1	2	2	2	0	0	2	2	6	2	5	1	4	1	2	1	4	2	1	rs370643554		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr5:174164G>A	ENST00000283426.6	+	16	3335	c.3285G>A	c.(3283-3285)tgG>tgA	p.W1095*		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1095	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)		AGAGTGCATGGACCGATGTCA	0.597																																							0											0													52	41	44					5																	174164		2202	4299	6501	SO:0001587	stop_gained	0			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.3285G>A	5.37:g.174164G>A	ENSP00000283426:p.Trp1095*			Nonsense_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.W1095*	ENST00000283426.6	37	c.3285	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	G	38	6.647501	0.97730	.	.	ENSG00000153404	ENST00000283426	.	.	.	3.38	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2521	0.54603	0.0:0.0:1.0:0.0	.	.	.	.	X	1095	.	ENSP00000283426:W1095X	W	+	3	0	PLEKHG4B	227164	1.000000	0.71417	0.259000	0.24435	0.006000	0.05464	8.000000	0.88501	1.426000	0.47256	0.467000	0.42956	TGG	0	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	protein_coding	OTTHUMT00000365359.1	27	72	0	0.00	0	0	G	NM_052909	0	0		174164	1	no_errors	ENST00000283426	ensembl	human	known	74_37	nonsense	38	104	11.63	7.14	5	8	SNP	1	A	A	174164	G	A	174164	4	1	103	1	0	0	0	0	0	1	0	0	12072	1183	41	3	3347	3	PLEKHG4B	5	174164	Nonsense_Mutation	SNP	G	TCGA-ZB-A96E-01A-11D-A428-09		174164	180741096	7	2039											
GPR116	221395	genome.wustl.edu	37	chr6	46849840	46849840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaattccgtaacccttcCggaactgaaaaataaagcaa	18	8	6	9	2	0	1	0	1	0	0	2	2	2	2	3	1	3	3	3	1	9	5	rs371340398		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr6:46849840C>T	ENST00000283296.7	-	7	905	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	GPR116_ENST00000456426.2_Missense_Mutation_p.R206Q|GPR116_ENST00000362015.4_Missense_Mutation_p.R206Q|GPR116_ENST00000265417.7_Missense_Mutation_p.R206Q	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	206	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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)			GTAACCCTTCCGGAACTGAAA	0.368																																					NSCLC(59;410 1274 8751 36715 50546)		0											0								C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	126	134	131		617,617	0.1	0.9	6		131	0,8600		0,0,4300	no	missense,missense	GPR116	NM_015234.4,NM_001098518.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	206/1347,206/1347	46849840	1,13005	2203	4300	6503	SO:0001583	missense	0			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.617G>A	6.37:g.46849840C>T	ENSP00000283296:p.Arg206Gln		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.R206Q	ENST00000283296.7	37	c.617	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281737	0.23392	2.27E-4	0.0	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.54	0.0613	0.14340	SEA (2);	1.055300	0.07442	N	0.897568	T	0.08802	0.0218	L	0.44542	1.39	0.20638	N	0.999871	B;B;B	0.25169	0.119;0.062;0.119	B;B;B	0.14023	0.01;0.006;0.01	T	0.30238	-0.9985	10	0.25751	T	0.34	1.0021	1.7365	0.02943	0.2998:0.4104:0.1303:0.1595	.	206;206;206	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	Q	206	ENSP00000283296:R206Q;ENSP00000354563:R206Q;ENSP00000412866:R206Q;ENSP00000265417:R206Q	ENSP00000265417:R206Q	R	-	2	0	GPR116	46957799	0.001000	0.12720	0.862000	0.33874	0.463000	0.32649	-1.585000	0.02112	0.062000	0.16340	-0.123000	0.14984	CGG	0	pfam_SEA_dom		0.368	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	protein_coding	OTTHUMT00000040806.2	113	272	0	0.00	0	0	C	NM_015234	rs371340398	C->T		46849840	-1	no_errors	ENST00000265417	ensembl	human	known	74_37	missense	79	250	8.99	5.64	8	15	SNP	0.295	T	T	46849840	C	T	46849840	3	4	103	1	0	0	0	0	1	0	0	0	6633	652	23	2	3483	2	GPR116	6	46849840	Missense_Mutation	SNP	C	TCGA-ZB-A96E-01A-11D-A428-09		46849840	124265227	8	2040											
HCRTR2	3062	genome.wustl.edu	37	chr6	55039563	55039563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgggtcctgatcgccGggtacatcatcgtgttcgtc	6	12	13	10	4	1	2	1	2	0	0	6	2	2	2	2	2	1	2	2	2	1	2			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr6:55039563G>T	ENST00000370862.3	+	1	514	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	60					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)			CCTGATCGCCGGGTACATCAT	0.597																																							0											0													129	110	117					6																	55039563		2203	4300	6503	SO:0001583	missense	0			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.178G>T	6.37:g.55039563G>T	ENSP00000359899:p.Gly60Trp		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.G60W	ENST00000370862.3	37	c.178	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684667	0.88639	.	.	ENSG00000137252	ENST00000370862	T	0.37058	1.22	5.01	5.01	0.66863	.	0.063901	0.64402	D	0.000006	T	0.39462	0.1079	L	0.47716	1.5	0.80722	D	1	D	0.61080	0.989	P	0.55824	0.785	T	0.21724	-1.0237	10	0.51188	T	0.08	.	18.3499	0.90335	0.0:0.0:1.0:0.0	.	60	O43614	OX2R_HUMAN	W	60	ENSP00000359899:G60W	ENSP00000359899:G60W	G	+	1	0	HCRTR2	55147522	1.000000	0.71417	0.967000	0.41034	0.996000	0.88848	9.401000	0.97294	2.323000	0.78572	0.563000	0.77884	GGG	0	prints_GPCR_Rhodpsn		0.597	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	protein_coding	OTTHUMT00000043392.1	65	197	0	0.51	0	1	G		0	0		55039563	1	no_errors	ENST00000370862	ensembl	human	known	74_37	missense	74	166	21.28	23.50	20	51	SNP	0.997	T	T	55039563	G	T	55039563	3	4	103	1	0	0	0	0	1	0	0	0	7002	1116	39	5	180	5	HCRTR2	6	55039563	Missense_Mutation	SNP	G	TCGA-ZB-A96E-01A-11D-A428-09	8189723	55039563	116075504	9	2041											
NOD1	10392	genome.wustl.edu	37	chr7	30491267	30491267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcccgcacaggaagaggTtggtgaactggaagtgatcc	12	6	14	9	1	0	3	0	2	0	1	1	5	1	5	2	4	2	2	2	4	3	1	rs138046644		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr7:30491267T>C	ENST00000222823.4	-	6	2291	c.1766A>G	c.(1765-1767)aAc>aGc	p.N589S		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	589					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						CAGGAAGAGGTTGGTGAACTG	0.607																																							0											0								T	SER/ASN	0,4406		0,0,2203	50	57	54		1766	5.5	1	7	dbSNP_134	54	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NOD1	NM_006092.2	46	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	probably-damaging	589/954	30491267	3,13003	2203	4300	6503	SO:0001583	missense	0			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.1766A>G	7.37:g.30491267T>C	ENSP00000222823:p.Asn589Ser		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.N589S	ENST00000222823.4	37	c.1766	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617599	0.46736	0.0	3.49E-4	ENSG00000106100	ENST00000222823	T	0.70282	-0.47	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.79747	0.4499	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.75875	-0.3163	10	0.17832	T	0.49	.	14.7195	0.69294	0.0:0.0:0.0:1.0	.	589	Q9Y239	NOD1_HUMAN	S	589	ENSP00000222823:N589S	ENSP00000222823:N589S	N	-	2	0	NOD1	30457792	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.099000	0.71466	2.079000	0.62486	0.533000	0.62120	AAC	0	NULL		0.607	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	protein_coding	OTTHUMT00000250443.2	42	156	2.27	0.00	1	0	T		rs138046644	T->C		30491267	-1	no_errors	ENST00000222823	ensembl	human	known	74_37	missense	44	160	8.33	6.94	4	12	SNP	1	C	C	30491267	T	C	30491267	3	2	103	1	0	0	0	0	1	0	0	0	10516	1725	60	3	1131	3	NOD1	7	30491267	Missense_Mutation	SNP	T	TCGA-ZB-A96E-01A-11D-A428-09		30491267	128647396	10	2042											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	419	103	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	342	121	18.14	13.57	76	19	SNP	1	A	A	74146970	T	A	74146970	3	1	103	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A96E-01A-11D-A428-09	43655703	74146970	84991693	11	2043											
FAM108B1	51104	genome.wustl.edu	37	chr9	74481855	74481855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaggccatgtgaaaagtCaatgacttcatcttcagtcc	11	11	9	10	1	4	2	3	2	1	0	5	3	5	2	2	1	1	0	2	1	3	2			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr9:74481855C>A	ENST00000333421.6	-	4	826	c.715G>T	c.(715-717)Gac>Tac	p.D239Y	ABHD17B_ENST00000377041.2_Missense_Mutation_p.D239Y	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	239						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										TGTGAAAAGTCAATGACTTCA	0.428																																							0											0													83	78	80					9																	74481855		2203	4300	6503	SO:0001583	missense	0			AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.715G>T	9.37:g.74481855C>A	ENSP00000330222:p.Asp239Tyr		A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Dienelactn_hydro	p.D239Y	ENST00000333421.6	37	c.715	CCDS35043.1	9	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157691	0.78114	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.44482	0.92;0.92	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	M	0.88775	2.98	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71414	0.973;0.955	T	0.75988	-0.3123	10	0.87932	D	0	-13.0149	20.3668	0.98882	0.0:1.0:0.0:0.0	.	239;239	Q5VST6;Q5VST6-2	F108B_HUMAN;.	Y	239	ENSP00000366240:D239Y;ENSP00000330222:D239Y	ENSP00000330222:D239Y	D	-	1	0	FAM108B1	73671675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.701000	0.84566	2.894000	0.99253	0.655000	0.94253	GAC	0	pfam_Peptidase_S9,pfam_Dienelactn_hydro		0.428	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABHD17B	protein_coding	OTTHUMT00000052625.1	54	210	0	0.47	0	1	C	NM_016014	0	0		74481855	-1	no_errors	ENST00000377041	ensembl	human	known	74_37	missense	62	197	11.43	6.64	8	14	SNP	1	A	A	74481855	C	A	74481855	3	1	103	1	0	0	0	0	1	0	0	0	5392	826	29	5	186	5	FAM108B1	9	74481855	Missense_Mutation	SNP	C	TCGA-ZB-A96E-01A-11D-A428-09		74481855	66731576	12	2044											
HRAS	3265	genome.wustl.edu	37	chr11	534284	534285	+	In_Frame_Ins	INS	-	-	CCG																															tcagcgcactcttgcccacaINSccgccggcgcccaccaccac																								rs104894226		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	-	-	-	CCG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr11:534284_534285insCCG	ENST00000451590.1	-	2	225_226	c.38_39insCGG	c.(37-39)ggt>ggCGGt	p.13_13G>GG	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_In_Frame_Ins_p.13_13G>GG|HRAS_ENST00000397596.2_In_Frame_Ins_p.13_13G>GG|HRAS_ENST00000417302.1_In_Frame_Ins_p.13_13G>GG|HRAS_ENST00000397594.1_In_Frame_Ins_p.13_13G>GG	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)|p.G13G(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;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)		TCTTGCCCACACCGCCGGCGCC	0.644		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	26	Substitution - Missense(24)|Insertion - In frame(1)|Substitution - coding silent(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|salivary_gland(1)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	GRCh37	CM053285	HRAS	M	rs104894226																																			SO:0001652	inframe_insertion	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.36_38dupCGG	11.37:g.534288_534290dupCCG	ENSP00000407586:p.Gly13dup		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	In_Frame_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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.14in_frame_insG	ENST00000451590.1	37	c.39_38	CCDS7698.1	11																																																																																			0	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		0.644	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	40	118	0	0.00	0	0	0	NM_176795	0	0		534285	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	in_frame_ins	43	90	17.31	10.89	9	11	INS	0.990:1.000	CCG	CCG	534285	-	CCG	534284	7	5	103	1	0	1	1	0	0	0	0	0	7348	146	6	0	613	0	HRAS	11	534284	In_Frame_Ins	INS	-	TCGA-ZB-A96E-01A-11D-A428-09		534284	134472232	13	2045											
PHRF1	57661	genome.wustl.edu	37	chr11	609650	609650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctgctgcggtccagagcCctggtgaagcgggtcacctg	5	7	14	15	2	1	2	1	1	0	1	2	2	2	2	5	3	4	1	5	3	1	0			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr11:609650C>T	ENST00000264555.5	+	14	4322	c.4194C>T	c.(4192-4194)gcC>gcT	p.A1398A	PHRF1_ENST00000416188.2_Silent_p.A1397A|PHRF1_ENST00000533464.1_Silent_p.A1394A|PHRF1_ENST00000413872.2_Silent_p.A1396A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1398					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						GGTCCAGAGCCCTGGTGAAGC	0.706																																							0											0													11	17	15					11																	609650		1979	4134	6113	SO:0001819	synonymous_variant	0			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.4194C>T	11.37:g.609650C>T			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	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.A1398	ENST00000264555.5	37	c.4194		11																																																																																			0	NULL		0.706	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	protein_coding	OTTHUMT00000382133.1	34	72	0	0.00	0	0	C	NM_020901	0	0		609650	1	no_errors	ENST00000264555	ensembl	human	known	74_37	silent	30	51	16.67	17.74	6	11	SNP	0.046	T	T	609650	C	T	609650	2	4	103	1	0	0	0	0	0	0	0	1	11861	610	22	3		3	PHRF1	11	609650	Silent	SNP	C	TCGA-ZB-A96E-01A-11D-A428-09	75366	609650	134396866	14	2046											
KIAA0652	9776	genome.wustl.edu	37	chr11	46671828	46671828	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacaccagcctataggcTctccaggaaacaagggcatg	12	6	12	11	0	1	1	0	1	1	0	2	2	1	2	3	4	2	2	3	4	4	2			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr11:46671828T>G	ENST00000434074.1	+	6	1108	c.419T>G	c.(418-420)cTc>cGc	p.L140R	ATG13_ENST00000526508.1_Missense_Mutation_p.L140R|ATG13_ENST00000524625.1_Missense_Mutation_p.L140R|ATG13_ENST00000528494.1_Missense_Mutation_p.L140R|ATG13_ENST00000359513.4_Missense_Mutation_p.L140R|ATG13_ENST00000451945.1_Missense_Mutation_p.L140R|ATG13_ENST00000312040.4_Missense_Mutation_p.L140R|ATG13_ENST00000530500.1_Missense_Mutation_p.L61R|ATG13_ENST00000529655.1_Missense_Mutation_p.L140R	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	140					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						GCCTATAGGCTCTCCAGGAAA	0.418																																							0											0													136	128	130					11																	46671828		2201	4299	6500	SO:0001583	missense	0			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.419T>G	11.37:g.46671828T>G	ENSP00000400642:p.Leu140Arg		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	pfam_Autophagy-rel_p13	p.L140R	ENST00000434074.1	37	c.419	CCDS44582.1	11	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783557	0.90282	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.79240	0.4412	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.995;0.999;0.999	T	0.81901	-0.0720	9	0.87932	D	0	-1.153	15.882	0.79211	0.0:0.0:0.0:1.0	.	61;140;140;140	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	R	140;140;140;140;140;61;140;140;140;140;140	.	ENSP00000310321:L140R	L	+	2	0	ATG13	46628404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.008000	0.88588	2.155000	0.67459	0.533000	0.62120	CTC	0	pfam_Autophagy-rel_p13		0.418	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	protein_coding	OTTHUMT00000390300.2	60	220	0	0.00	0	0	T	NM_014741	0	0		46671828	1	no_errors	ENST00000312040	ensembl	human	known	74_37	missense	51	211	7.27	5.80	4	13	SNP	1	G	G	46671828	T	G	46671828	3	3	103	1	0	0	0	0	1	0	0	0	8188	1551	54	5	437	5	KIAA0652	11	46671828	Missense_Mutation	SNP	T	TCGA-ZB-A96E-01A-11D-A428-09	46062178	46671828	88334688	15	2047											
GRIA4	2893	genome.wustl.edu	37	chr11	105623710	105623710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcttgtttcagtctGttcccagtattctagaggag	6	17	8	10	0	5	1	1	0	4	1	7	2	7	2	2	1	0	3	2	1	2	7	rs557011356		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr11:105623710G>A	ENST00000530497.1	+	3	251	c.251G>A	c.(250-252)tGt>tAt	p.C84Y	GRIA4_ENST00000393125.2_Missense_Mutation_p.C84Y|GRIA4_ENST00000282499.5_Missense_Mutation_p.C84Y|GRIA4_ENST00000393127.2_Missense_Mutation_p.C84Y|GRIA4_ENST00000428631.2_Missense_Mutation_p.C84Y|GRIA4_ENST00000525187.1_Missense_Mutation_p.C84Y			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	84					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)		GTTTCAGTCTGTTCCCAGTAT	0.368													G|||	1	0.000199681	8e-04	0	5008	,	,		20510	0		0	False		,,,				2504	0						0.9998,0.0001997											0													140	135	137					11																	105623710		2202	4299	6501	SO:0001583	missense	0			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.251G>A	11.37:g.105623710G>A	ENSP00000435775:p.Cys84Tyr		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.C84Y	ENST00000530497.1	37	c.251	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472481	0.84640	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.51	5.51	0.81932	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	T	0.51092	0.1654	M	0.76838	2.35	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	0.53927	-0.8369	10	0.87932	D	0	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	84;84;114;84	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	Y	84	ENSP00000376833:C84Y;ENSP00000282499:C84Y;ENSP00000376835:C84Y;ENSP00000415551:C84Y;ENSP00000432443:C84Y;ENSP00000435775:C84Y;ENSP00000432180:C84Y	ENSP00000282499:C84Y	C	+	2	0	GRIA4	105128920	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.600000	0.87896	0.655000	0.94253	TGT	0	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.368	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	protein_coding	OTTHUMT00000388593.1	55	216	0	0.00	0	0	G		rs557011356	G->A		105623710	1	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	40	262	11.11	7.42	5	21	SNP	1	A	A	105623710	G	A	105623710	3	1	103	1	0	0	0	0	1	0	0	0	6770	1377	48	3	261	3	GRIA4	11	105623710	Missense_Mutation	SNP	G	TCGA-ZB-A96E-01A-11D-A428-09	58951882	105623710	29382806	16	2048											
DYRK4	8798	genome.wustl.edu	37	chr12	4714232	4714232	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggggagaatgaggtggagCagctggcctgcatcatggag	9	6	18	8	1	1	2	1	1	0	1	1	5	1	4	2	6	3	3	2	6	1	0			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr12:4714232C>T	ENST00000540757.2	+	9	1094	c.934C>T	c.(934-936)Cag>Tag	p.Q312*	DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000010132.5_Nonsense_Mutation_p.Q312*|DYRK4_ENST00000543431.1_Nonsense_Mutation_p.Q312*|RP11-500M8.7_ENST00000536588.1_Silent_p.S41S	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	312	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)			TGAGGTGGAGCAGCTGGCCTG	0.672											OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													51	46	48					12																	4714232		2203	4300	6503	SO:0001587	stop_gained	0			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.934C>T	12.37:g.4714232C>T	ENSP00000441755:p.Gln312*	620	A8K8F7|Q8NEF2|Q92631	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.Q312*	ENST00000540757.2	37	c.934	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.466790	0.98825	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2186	0.93788	0.0:1.0:0.0:0.0	.	.	.	.	X	427;312;312;312	.	ENSP00000010132:Q312X	Q	+	1	0	DYRK4	4584493	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.698000	0.84413	2.642000	0.89623	0.555000	0.69702	CAG	0	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.672	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	protein_coding	OTTHUMT00000398780.2	24	126	0	0.00	0	0	C		0	0		4714232	1	no_errors	ENST00000010132	ensembl	human	known	74_37	nonsense	14	124	36.36	17.33	8	26	SNP	1	T	T	4714232	C	T	4714232	4	4	103	1	0	0	0	0	0	1	0	0	4858	711	25	3	960	3	DYRK4	12	4714232	Nonsense_Mutation	SNP	C	TCGA-ZB-A96E-01A-11D-A428-09		4714232	129137663	17	2049											
OLFM4	10562	genome.wustl.edu	37	chr13	53608550	53608550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctgtttccctgccagAcaccacctttcccgtggaca	6	11	8	16	1	1	1	0	0	1	1	3	2	3	2	5	1	2	2	5	1	0	2			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr13:53608550A>G	ENST00000219022.2	+	2	350	c.272A>G	c.(271-273)gAc>gGc	p.D91G		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	91					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)		TCCCTGCCAGACACCACCTTT	0.443																																							0											0													127	107	114					13																	53608550		2203	4300	6503	SO:0001583	missense	0			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.272A>G	13.37:g.53608550A>G	ENSP00000219022:p.Asp91Gly		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.D91G	ENST00000219022.2	37	c.272	CCDS9440.1	13	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904358	0.52333	.	.	ENSG00000102837	ENST00000219022	D	0.90444	-2.67	5.28	5.28	0.74379	.	0.271717	0.36034	N	0.002838	D	0.90113	0.6911	M	0.77820	2.39	0.48975	D	0.999734	B	0.25351	0.124	B	0.22152	0.038	D	0.88468	0.3060	10	0.54805	T	0.06	.	13.747	0.62881	1.0:0.0:0.0:0.0	.	91	Q6UX06	OLFM4_HUMAN	G	91	ENSP00000219022:D91G	ENSP00000219022:D91G	D	+	2	0	OLFM4	52506551	1.000000	0.71417	0.446000	0.26920	0.864000	0.49448	6.336000	0.72954	2.126000	0.65437	0.533000	0.62120	GAC	0	NULL		0.443	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	protein_coding	OTTHUMT00000045112.2	63	234	0	0.00	0	0	A	NM_006418	0	0		53608550	1	no_errors	ENST00000219022	ensembl	human	known	74_37	missense	44	179	30.16	17.51	19	38	SNP	0.839	G	G	53608550	A	G	53608550	3	3	103	1	0	0	0	0	1	0	0	0	10855	275	10	3	278	3	OLFM4	13	53608550	Missense_Mutation	SNP	A	TCGA-ZB-A96E-01A-11D-A428-09		53608550	61561328	18	2050											
GPRC5B	51704	genome.wustl.edu	37	chr16	19883616	19883616	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgtgtcacgcagcacGgtgagcaccagccactccac	8	6	11	16	2	1	1	1	1	0	0	2	1	2	1	4	2	3	3	4	2	0	1			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr16:19883616G>A	ENST00000300571.2	-	2	743	c.552C>T	c.(550-552)acC>acT	p.T184T	GPRC5B_ENST00000535671.1_Silent_p.T184T|GPRC5B_ENST00000569847.1_Silent_p.T184T|GPRC5B_ENST00000537135.1_Silent_p.T210T|GPRC5B_ENST00000569479.1_Silent_p.T184T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	184					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						CACGCAGCACGGTGAGCACCA	0.652																																							0											0													66	55	59					16																	19883616		2197	4300	6497	SO:0001819	synonymous_variant	0			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.552C>T	16.37:g.19883616G>A			D2DFB0|O75205|Q8NBZ8	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.T210	ENST00000300571.2	37	c.630	CCDS10581.1	16																																																																																			0	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.652	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	protein_coding	OTTHUMT00000254285.1	34	46	0	0.00	0	0	G		0	0		19883616	-1	no_errors	ENST00000537135	ensembl	human	known	74_37	silent	59	56	7.81	13.85	5	9	SNP	0.033	A	A	19883616	G	A	19883616	2	1	103	1	0	0	0	0	0	0	0	1	6725	1103	39	2		2	GPRC5B	16	19883616	Silent	SNP	G	TCGA-ZB-A96E-01A-11D-A428-09		19883616	70471137	19	2051											
CTCF	10664	genome.wustl.edu	37	chr16	67670755	67670755	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccaaacagaaccagcGtaagttgttcatctctgctc	11	9	7	14	1	2	1	1	0	1	1	4	1	2	1	3	0	5	4	3	0	3	3			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr16:67670755G>T	ENST00000264010.4	+	11	2443		c.e11+1		CTCF_ENST00000401394.1_Splice_Site	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)						chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAGAACCAGCGTAAGTTGTTC	0.602																																					Colon(175;1200 1966 6945 23069 27405)		0											0													98	100	99					16																	67670755		2198	4300	6498	SO:0001630	splice_region_variant	0			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1999+1G>T	16.37:g.67670755G>T			B5MC38|Q53XI7|Q59EL8	Splice_Site	SNP	0	e9+1	ENST00000264010.4	37	c.1999+1	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796904	0.90453	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7374	0.91761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTCF	66228256	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.780000	0.75063	2.861000	0.98227	0.655000	0.94253	.	0	0		0.602	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	protein_coding	OTTHUMT00000268870.2	38	186	0	0.00	0	0	G	NM_006565	0	0	Intron	67670755	1	no_errors	ENST00000264010	ensembl	human	known	74_37	splice_site	41	154	21.15	15.38	11	28	SNP	1	T	T	67670755	G	T	67670755	5	4	103	1	0	0	0	0	0	0	1	0	4000	1159	40	5	2034	5	CTCF	16	67670755	Splice_Site	SNP	G	TCGA-ZB-A96E-01A-11D-A428-09	47787139	67670755	22683998	20	2052											
KRTAP4-8	728224	genome.wustl.edu	37	chr17	39254112	39254113	+	Frame_Shift_Ins	INS	-	-	A																															actggcagcactggggcttgINScagcagctggacacacagca																										TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr17:39254112_39254113insA	ENST00000333822.4	-	1	280_281	c.224_225insT	c.(223-225)tgcfs	p.C75fs		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	75	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						ACTGGGGCTTGCAGCAGCTGGA	0.658																																							0											0																																										SO:0001589	frameshift_variant	0			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.224_225insT	17.37:g.39254112_39254113insA	ENSP00000328444:p.Cys75fs		A8MSH3	Frame_Shift_Ins	INS	pfam_Keratin-assoc	p.K76fs	ENST00000333822.4	37	c.225_224	CCDS45674.1	17																																																																																			0	NULL		0.658	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	KRTAP4-8	protein_coding	OTTHUMT00000257684.1	67	3	1.47	0.00	1	0	0	NM_031960	0	0		39254113	-1	no_errors	ENST00000333822	ensembl	human	known	74_37	frame_shift_ins	61	1	8.96	0.00	6	0	INS	0.906:1.000	A	A	39254113	-	A	39254112	7	5	103	1	0	1	1	0	0	0	0	0	8556	1311	46	0	336	0	KRTAP4-8	17	39254112	Frame_Shift_Ins	INS	-	TCGA-ZB-A96E-01A-11D-A428-09		39254112	41941098	21	2053											
RYR1	6261	genome.wustl.edu	37	chr19	38954458	38954458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccagagcctgagaggaaCtacaacctgcagatgtctgg	11	8	11	11	0	1	3	0	1	1	3	2	5	2	4	3	2	5	1	3	2	3	2			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr19:38954458C>A	ENST00000359596.3	+	22	2754	c.2754C>A	c.(2752-2754)aaC>aaA	p.N918K	RYR1_ENST00000355481.4_Missense_Mutation_p.N918K|RYR1_ENST00000360985.3_Missense_Mutation_p.N918K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	918	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)	CTGAGAGGAACTACAACCTGC	0.617																																							0											0													79	75	76					19																	38954458		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2754C>A	19.37:g.38954458C>A	ENSP00000352608:p.Asn918Lys		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.N918K	ENST00000359596.3	37	c.2754	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	c	13.61	2.287719	0.40494	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.90788	-2.73;-2.73;-2.73	4.0	0.541	0.17168	Ryanodine receptor Ryr (1);	0.068446	0.53938	U	0.000041	D	0.89058	0.6607	L	0.28115	0.83	0.37732	D	0.925319	D;D	0.76494	0.999;0.998	D;D	0.75484	0.984;0.986	D	0.84877	0.0828	10	0.26408	T	0.33	.	8.269	0.31833	0.0:0.3954:0.0:0.6046	.	918;918	P21817-2;P21817	.;RYR1_HUMAN	K	918	ENSP00000352608:N918K;ENSP00000347667:N918K;ENSP00000354254:N918K	ENSP00000347667:N918K	N	+	3	2	RYR1	43646298	0.331000	0.24713	1.000000	0.80357	0.935000	0.57460	-0.380000	0.07427	0.174000	0.19809	-0.413000	0.06143	AAC	0	pfam_Ryanodine_rcpt		0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	20	58	0	0.00	0	0	C		0	0		38954458	1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	13	67	30	15.19	6	12	SNP	1	A	A	38954458	C	A	38954458	3	1	103	1	0	0	0	0	1	0	0	0	13768	564	20	5	2840	5	RYR1	19	38954458	Missense_Mutation	SNP	C	TCGA-ZB-A96E-01A-11D-A428-09		38954458	20174525	22	2054											
ZNF544	27300	genome.wustl.edu	37	chr19	58773097	58773097	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaccagagaacacacacTggagaaaagcccttcgaatg	17	5	8	11	1	0	2	0	0	0	2	1	5	0	2	2	1	3	0	2	1	5	2			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr19:58773097T>G	ENST00000596652.1	+	6	1359	c.1125T>G	c.(1123-1125)acT>acG	p.T375T	ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600044.1_Silent_p.T347T|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Silent_p.T347T|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000269829.4_Silent_p.T375T|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600220.1_Silent_p.T347T|ZNF544_ENST00000599953.1_Silent_p.T233T			Q6NX49	ZN544_HUMAN	zinc finger protein 544	375					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)		GAACACACACTGGAGAAAAGC	0.443																																							0											0													83	81	82					19																	58773097		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1125T>G	19.37:g.58773097T>G			A8K6J1|Q9UEX4	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.T375	ENST00000596652.1	37	c.1125	CCDS12973.1	19																																																																																			0	pfscan_Znf_C2H2		0.443	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	protein_coding	OTTHUMT00000466754.1	65	177	0	0.00	0	0	T	NM_014480	0	0		58773097	1	no_errors	ENST00000269829	ensembl	human	known	74_37	silent	38	224	28.3	14.77	15	39	SNP	0.92	G	G	58773097	T	G	58773097	2	3	103	1	0	0	0	0	0	0	0	1	17974	1567	55	5		5	ZNF544	19	58773097	Silent	SNP	T	TCGA-ZB-A96E-01A-11D-A428-09	19818639	58773097	355886	23	2055											
EPB41L1	2036	genome.wustl.edu	37	chr20	34773175	34773175	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaggagcatgtgggcAactatgtcagcgagctccgc	9	8	14	10	2	1	1	1	1	0	0	2	3	2	2	1	2	5	4	1	2	2	1			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chr20:34773175A>G	ENST00000338074.2	+	7	864	c.703A>G	c.(703-705)Aac>Gac	p.N235D	EPB41L1_ENST00000373941.1_Missense_Mutation_p.N235D|EPB41L1_ENST00000202028.5_Missense_Mutation_p.N173D|EPB41L1_ENST00000441639.1_Missense_Mutation_p.N173D|EPB41L1_ENST00000373946.3_Missense_Mutation_p.N204D|EPB41L1_ENST00000373950.2_Missense_Mutation_p.N138D	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	235	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)					GCATGTGGGCAACTATGTCAG	0.597																																							0											0													77	67	70					20																	34773175		2203	4300	6503	SO:0001583	missense	0			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.703A>G	20.37:g.34773175A>G	ENSP00000337168:p.Asn235Asp		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	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.N235D	ENST00000338074.2	37	c.703	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	A	4.457	0.084689	0.08583	.	.	ENSG00000088367	ENST00000202028;ENST00000430276;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000397307;ENST00000441639;ENST00000373946;ENST00000373945;ENST00000338074;ENST00000373941	T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.33	3.02	0.34903	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.38558	0.1045	N	0.02765	-0.5	0.36954	D	0.893018	B;B;B;B;B;B	0.18461	0.015;0.028;0.006;0.004;0.0;0.009	B;B;B;B;B;B	0.23716	0.048;0.032;0.01;0.005;0.0;0.02	T	0.36261	-0.9755	9	0.02654	T	1	.	6.4892	0.22105	0.7841:0.0:0.0773:0.1386	.	235;235;204;138;138;173	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	D	173;173;138;235;138;173;173;204;173;235;235	ENSP00000202028:N173D;ENSP00000404341:N173D;ENSP00000363061:N138D;ENSP00000399214:N173D;ENSP00000363057:N204D;ENSP00000363056:N173D;ENSP00000337168:N235D;ENSP00000363052:N235D	ENSP00000202028:N173D	N	+	1	0	EPB41L1	34236589	1.000000	0.71417	0.974000	0.42286	0.001000	0.01503	4.984000	0.63838	0.312000	0.23038	-0.290000	0.09829	AAC	0	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain		0.597	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	protein_coding	OTTHUMT00000078978.3	22	60	0	0.00	0	0	A	NM_012156	0	0		34773175	1	no_errors	ENST00000338074	ensembl	human	known	74_37	missense	13	66	18.75	14.29	3	11	SNP	1	G	G	34773175	A	G	34773175	3	3	103	1	0	0	0	0	1	0	0	0	5152	130	5	3	725	3	EPB41L1	20	34773175	Missense_Mutation	SNP	A	TCGA-ZB-A96E-01A-11D-A428-09		34773175	28252345	24	2056											
BCOR	54880	genome.wustl.edu	37	chrX	39911577	39911583	+	Frame_Shift_Del	DEL	GAAAATT	GAAAATT	-																															ggtgacaatttccacgtttgGaaaattgcagcgaaatatgc																										TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	GAAAATT	GAAAATT	GAAAATT	-	GAAAATT	GAAAATT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chrX:39911577_39911583delGAAAATT	ENST00000378444.4	-	15	5275_5281	c.5047_5053delAATTTTC	c.(5047-5055)aattttccafs	p.NFP1683fs	BCOR_ENST00000342274.4_Frame_Shift_Del_p.NFP1649fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.NFP526fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.NFP1649fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.NFP1631fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1683	Necessary and sufficient for interaction with PCGF1.				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						TCCACGTTTGGAAAATTGCAGCGAAAT	0.44			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																0		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0																																										SO:0001589	frameshift_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5047_5053delAATTTTC	X.37:g.39911577_39911583delGAAAATT	ENSP00000367705:p.Asn1683fs		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.N1683fs	ENST00000378444.4	37	c.5053_5047	CCDS48093.1	X																																																																																			0	NULL		0.44	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	66	152	0	0.00	0	0	GAAAATT	NM_017745	0	0		39911583	-1	no_errors	ENST00000378444	ensembl	human	known	74_37	frame_shift_del	47	98	12.96	12.50	7	14	DEL	1.000:1.000:1.000:1.000:0.998:1.000:1.000	0	-	39911583	GAAAATT	-	39911577	7	5	103	1	0	1	0	1	0	0	0	0	1386	1174	41	0	218	0	BCOR	23	39911577	Frame_Shift_Del	DEL	GAAAATT	TCGA-ZB-A96E-01A-11D-A428-09		39911577	115358983	25	2057	13	2									
BCOR	54880	genome.wustl.edu	37	chrX	39911586	39911589	+	Frame_Shift_Del	DEL	AGCG	AGCG	-																															ttccacgtttggaaaattgcAgcgaaatatgcgggaggaca																								rs372913827		TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	AGCG	AGCG	AGCG	-	AGCG	AGCG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chrX:39911586_39911589delAGCG	ENST00000378444.4	-	15	5269_5272	c.5041_5044delCGCT	c.(5041-5046)cgctgcfs	p.RC1681fs	BCOR_ENST00000342274.4_Frame_Shift_Del_p.RC1647fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.RC524fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.RC1647fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.RC1629fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1681	Necessary and sufficient for interaction with PCGF1.				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						GGAAAATTGCAGCGAAATATGCGG	0.436			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																0		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0																																										SO:0001589	frameshift_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5041_5044delCGCT	X.37:g.39911586_39911589delAGCG	ENSP00000367705:p.Arg1681fs		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.R1681fs	ENST00000378444.4	37	c.5044_5041	CCDS48093.1	X																																																																																			0	NULL		0.436	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	64	146	0	0.00	0	0	AGCG	NM_017745	0	0		39911589	-1	no_errors	ENST00000378444	ensembl	human	known	74_37	frame_shift_del	38	89	15.56	13.59	7	14	DEL	0.998:0.995:1.000:1.000	0	-	39911589	AGCG	-	39911586	7	5	103	1	0	1	0	1	0	0	0	0	1386	188	7	0	227	0	BCOR	23	39911586	Frame_Shift_Del	DEL	AGCG	TCGA-ZB-A96E-01A-11D-A428-09	9	39911586	115358974	26	2058	13	2									
USP9X	8239	genome.wustl.edu	37	chrX	40996178	40996178	+	Frame_Shift_Del	DEL	T	T	-																															tcctcattgcaaattccataTctacaatggtacacgtccat																										TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chrX:40996178delT	ENST00000324545.8	+	6	1190	c.557delT	c.(556-558)atcfs	p.I186fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.I186fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	186					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAATTCCATATCTACAATGGT	0.453																																					Ovarian(172;1807 2695 35459 49286)		0											0													146	127	133					X																	40996178		2203	4300	6503	SO:0001589	frameshift_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.557delT	X.37:g.40996178delT	ENSP00000316357:p.Ile186fs		O75550|Q8WWT3|Q8WX12	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.I186fs	ENST00000324545.8	37	c.557	CCDS43930.1	X																																																																																			0	NULL		0.453	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	protein_coding	OTTHUMT00000056250.4	66	130	0	0.00	0	0	T	NM_004652	0	0		40996178	1	no_errors	ENST00000324545	ensembl	human	known	74_37	frame_shift_del	50	91	29.58	35.92	21	51	DEL	1	0	-	40996178	T	-	40996178	7	5	103	1	0	1	0	1	0	0	0	0	17087	1435	50	0	575	0	USP9X	23	40996178	Frame_Shift_Del	DEL	T	TCGA-ZB-A96E-01A-11D-A428-09	1084592	40996178	114274382	27	2059											
UBQLN2	29978	genome.wustl.edu	37	chrX	56590760	56590760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggagcctgggaggacttGcaggccttagcagcctgggc	6	7	18	10	0	0	0	0	0	0	0	0	3	0	3	3	6	4	2	3	6	1	2			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chrX:56590760G>C	ENST00000338222.5	+	1	735	c.454G>C	c.(454-456)Gca>Cca	p.A152P		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	152					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						GGGAGGACTTGCAGGCCTTAG	0.562																																					Esophageal Squamous(104;218 1492 6022 10838 28884)		0											0													38	38	38					X																	56590760		2203	4300	6503	SO:0001583	missense	0			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.454G>C	X.37:g.56590760G>C	ENSP00000345195:p.Ala152Pro		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.A152P	ENST00000338222.5	37	c.454	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225398	0.39300	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80480	-1.38	4.94	3.06	0.35304	.	0.256360	0.32655	N	0.005812	D	0.83718	0.5315	L	0.55213	1.73	0.44337	D	0.997226	D;D	0.69078	0.997;0.995	P;P	0.62184	0.899;0.854	T	0.80772	-0.1233	10	0.37606	T	0.19	-0.1598	10.7882	0.46417	0.0:0.0:0.6575:0.3425	.	152;152	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	P	152	ENSP00000345195:A152P	ENSP00000345195:A152P	A	+	1	0	UBQLN2	56607485	1.000000	0.71417	0.998000	0.56505	0.516000	0.34256	2.226000	0.42963	0.531000	0.28639	0.600000	0.82982	GCA	0	NULL		0.562	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	protein_coding	OTTHUMT00000056891.1	17	51	0	0.00	0	0	G	NM_013444	0	0		56590760	1	no_errors	ENST00000338222	ensembl	human	known	74_37	missense	21	53	19.23	10.17	5	6	SNP	1	C	C	56590760	G	C	56590760	3	2	103	1	0	0	0	0	1	0	0	0	16894	1319	46	5	456	5	UBQLN2	23	56590760	Missense_Mutation	SNP	G	TCGA-ZB-A96E-01A-11D-A428-09	15594582	56590760	98679800	28	2060											
MAGEA3	4102	genome.wustl.edu	37	chrX	151935507	151935507	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acactcagctcctcccagatTttctcctcaggggcacagtc	8	10	7	16	0	3	1	2	0	1	1	7	1	5	1	3	2	1	2	3	2	0	2			TCGA-ZB-A96E-01A-11D-A428-09	TCGA-ZB-A96E-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	92295e76-5176-4206-bfe5-81936dd2dd55	6e98bcfd-c662-4103-9c48-c8935b77d8ff	g.chrX:151935507T>A	ENST00000393902.3	-	3	1227	c.660A>T	c.(658-660)aaA>aaT	p.K220N	MAGEA3_ENST00000370278.3_Missense_Mutation_p.K220N			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	220	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCAGATTTTCTCCTCAG	0.542																																							0											0													153	151	152					X																	151935507		2202	4291	6493	SO:0001583	missense	0				CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"melanoma-associated antigen 3", "antigen MZ2-D", "MAGE-3 antigen", "cancer/testis antigen family 1, member 3"	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.660A>T	X.37:g.151935507T>A	ENSP00000377480:p.Lys220Asn		Q6FHI6	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K220N	ENST00000393902.3	37	c.660	CCDS14715.1	X	.	.	.	.	.	.	.	.	.	.	t	3.120	-0.180811	0.06380	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.05199	3.48;3.48	1.42	-2.84	0.05751	.	3.874540	0.00582	N	0.000335	T	0.06872	0.0175	L	0.55990	1.75	0.09310	N	1	P	0.37594	0.601	B	0.36845	0.234	T	0.15838	-1.0423	10	0.45353	T	0.12	.	0.0669	0.00018	0.2492:0.2094:0.2495:0.2919	.	220	P43357	MAGA3_HUMAN	N	220	ENSP00000359301:K220N;ENSP00000377480:K220N	ENSP00000359301:K220N	K	-	3	2	MAGEA3	151686163	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.551000	0.06027	-1.442000	0.01955	-0.949000	0.02662	AAA	0	pfam_MAGE,pfscan_MAGE		0.542	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA3	protein_coding	OTTHUMT00000058744.1	67	47	0	0.00	0	0	T	NM_005362	0	0		151935507	-1	no_errors	ENST00000370278	ensembl	human	known	74_37	missense	42	25	27.59	52.83	16	28	SNP	0	A	A	151935507	T	A	151935507	3	1	103	1	0	0	0	0	1	0	0	0	9167	1838	64	5	288	5	MAGEA3	23	151935507	Missense_Mutation	SNP	T	TCGA-ZB-A96E-01A-11D-A428-09	95344747	151935507	3335053	29	2061											
OR14I1	401994	genome.wustl.edu	37	chr1	248844765	248844765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatgatgggattgaggaaggGaggcaaaactgtgtatgtca	13	10	15	3	0	1	2	1	2	0	0	1	5	1	5	0	4	1	2	0	4	5	3			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr1:248844765G>A	ENST00000342623.3	-	1	864	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	281						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(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TTGAGGAAGGGAGGCAAAACT	0.403																																							0											0													100	95	97					1																	248844765		2203	4300	6503	SO:0001583	missense	0				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.841C>T	1.37:g.248844765G>A	ENSP00000339726:p.Pro281Ser			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt	p.P281S	ENST00000342623.3	37	c.841	CCDS31125.1	1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.046584	0.75846	.	.	ENSG00000189181	ENST00000342623	T	0.00330	8.08	3.36	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000342	T	0.00936	0.0031	M	0.91140	3.18	0.39520	D	0.968509	D	0.65815	0.995	D	0.67382	0.951	T	0.59958	-0.7356	10	0.72032	D	0.01	.	12.1968	0.54303	0.0:0.0:1.0:0.0	.	281	A6ND48	O14I1_HUMAN	S	281	ENSP00000339726:P281S	ENSP00000339726:P281S	P	-	1	0	OR14I1	246911388	0.969000	0.33509	0.014000	0.15608	0.382000	0.30200	1.601000	0.36773	1.675000	0.50919	0.543000	0.68304	CCC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt		0.403	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14I1	protein_coding	OTTHUMT00000097128.1	56	213	0	0.00	0	0	G	NM_001004734	0	0		248844765	-1	no_errors	ENST00000342623	ensembl	human	known	74_37	missense	44	232	15.38	15.88	8	44	SNP	0.968	A	A	248844765	G	A	248844765	3	1	104	1	0	0	0	0	1	0	0	0	10947	1174	41	3	98	3	OR14I1	1	248844765	Missense_Mutation	SNP	G	TCGA-ZB-A96F-01A-11D-A428-09		248844765	405856	1	2062											
SF3B1	23451	genome.wustl.edu	37	chr2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgatggtccgaacttTctgctgctcatccacaagac	10	10	8	13	1	2	2	1	1	1	1	4	3	4	2	2	1	4	3	2	1	2	1	rs559063155		TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr2:198266834T>C	ENST00000335508.6	-	15	2189	c.2098A>G	c.(2098-2100)Aaa>Gaa	p.K700E	SF3B1_ENST00000462613.1_5'UTR|SNORA4_ENST00000365564.1_RNA	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						0		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)																																								SO:0001583	missense	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2098A>G	2.37:g.198266834T>C	ENSP00000335321:p.Lys700Glu		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	0	superfamily_ARM-type_fold		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	protein_coding	OTTHUMT00000335245.2	41	167	0	0.00	0	0	T		rs559063155	T->C		198266834	-1	no_errors	ENST00000335508	ensembl	human	known	74_37	missense	38	248	20.83	11.70	10	33	SNP	1	C	C	198266834	T	C	198266834	3	2	104	1	0	0	0	0	1	0	0	0	14149	1792	62	3	1860	3	SF3B1	2	198266834	Missense_Mutation	SNP	T	TCGA-ZB-A96F-01A-11D-A428-09		198266834	44932539	2	2063											
PBRM1	55193	genome.wustl.edu	37	chr3	52620451	52620451	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgcataccttttccaagTtaaaattgtcttcagctcga	11	15	5	10	1	3	0	1	0	2	0	5	1	4	0	2	0	3	3	2	0	4	6			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr3:52620451T>C	ENST00000296302.7	-	20	3378	c.3377A>G	c.(3376-3378)aAc>aGc	p.N1126S	PBRM1_ENST00000337303.4_Missense_Mutation_p.N1126S|PBRM1_ENST00000394830.3_Missense_Mutation_p.N1101S|PBRM1_ENST00000410007.1_Missense_Mutation_p.N1101S|PBRM1_ENST00000409057.1_Missense_Mutation_p.N1126S|PBRM1_ENST00000409767.1_Missense_Mutation_p.N1141S|PBRM1_ENST00000356770.4_Missense_Mutation_p.N1094S|PBRM1_ENST00000409114.3_Missense_Mutation_p.N1141S			Q86U86	PB1_HUMAN	polybromo 1	1126					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)		CTTTTCCAAGTTAAAATTGTC	0.358			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																		0		Rec	yes		3	3p21	55193	polybromo 1		E	0													143	149	147					3																	52620451		2203	4300	6503	SO:0001583	missense	0			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.3377A>G	3.37:g.52620451T>C	ENSP00000296302:p.Asn1126Ser		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.N1126S	ENST00000296302.7	37	c.3377		3	.	.	.	.	.	.	.	.	.	.	T	2.200	-0.383199	0.04966	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.33654	1.42;1.42;1.46;1.42;1.42;1.43;1.88;1.42;1.42;1.4	5.14	3.96	0.45880	.	0.336709	0.29884	N	0.010943	T	0.14399	0.0348	N	0.08118	0	0.27911	N	0.938625	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	0.0;0.0;0.001;0.0;0.001;0.001;0.0;0.0;0.001	T	0.17198	-1.0377	10	0.15066	T	0.55	-26.3629	3.1414	0.06457	0.1407:0.0752:0.1469:0.6372	.	1101;1125;1101;1126;1141;1141;1126;1094;1126	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	S	1094;1101;1126;1126;1126;1101;1141;1141;1125;1084	ENSP00000349213:N1094S;ENSP00000378307:N1101S;ENSP00000296302:N1126S;ENSP00000338302:N1126S;ENSP00000386593:N1126S;ENSP00000386529:N1101S;ENSP00000386643:N1141S;ENSP00000386601:N1141S;ENSP00000387775:N1125S;ENSP00000397662:N1084S	ENSP00000296302:N1126S	N	-	2	0	PBRM1	52595491	1.000000	0.71417	0.986000	0.45419	0.574000	0.36063	1.108000	0.31123	0.875000	0.35847	-0.509000	0.04479	AAC	0	NULL		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	protein_coding	OTTHUMT00000327232.1	42	225	0	0.00	0	0	T	NM_018165	0	0		52620451	-1	no_errors	ENST00000296302	ensembl	human	known	74_37	missense	45	216	10	13.60	5	34	SNP	0.843	C	C	52620451	T	C	52620451	3	2	104	1	0	0	0	0	1	0	0	0	11491	1725	60	3	1567	3	PBRM1	3	52620451	Missense_Mutation	SNP	T	TCGA-ZB-A96F-01A-11D-A428-09		52620451	145401979	3	2064											
TACC1	6867	genome.wustl.edu	37	chr8	38677775	38677775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggccaggaaagcccttcCaaggaagcttggcaggaaac	14	4	13	10	0	0	1	0	0	0	1	1	4	1	4	3	5	3	2	3	5	4	2			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr8:38677775C>A	ENST00000317827.4	+	3	1392	c.1013C>A	c.(1012-1014)cCa>cAa	p.P338Q	TACC1_ENST00000330691.6_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.P293Q|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Missense_Mutation_p.P302Q|TACC1_ENST00000520615.1_Missense_Mutation_p.P143Q|TACC1_ENST00000519416.1_Missense_Mutation_p.P143Q|TACC1_ENST00000379931.3_Missense_Mutation_p.P338Q|TACC1_ENST00000443286.2_Missense_Mutation_p.P354Q|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.P143Q	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	338	Interaction with YEATS4.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AAAGCCCTTCCAAGGAAGCTT	0.502																																							0											0													78	84	82					8																	38677775		2203	4300	6503	SO:0001583	missense	0			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1013C>A	8.37:g.38677775C>A	ENSP00000321703:p.Pro338Gln		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	pfam_TACC	p.P338Q	ENST00000317827.4	37	c.1013	CCDS6109.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.241782|4.241782	0.79912|0.79912	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973|ENST00000521866	T;T;T;T;T;T;T;T|.	0.37058|.	1.3;1.22;1.47;1.36;1.39;1.43;1.44;1.29|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.065913|.	0.64402|.	D|.	0.000009|.	T|T	0.72977|0.72977	0.3528|0.3528	M|M	0.76838|0.76838	2.35|2.35	0.47341|0.47341	D|D	0.999397|0.999397	D;D;D;D;D;D;P;D|.	0.89917|.	1.0;0.985;0.985;0.993;0.999;1.0;0.944;0.999|.	D;P;P;P;D;D;P;D|.	0.80764|.	0.994;0.823;0.836;0.844;0.954;0.965;0.732;0.967|.	T|T	0.73997|0.73997	-0.3806|-0.3806	10|5	0.72032|.	D|.	0.01|.	-9.3805|-9.3805	11.1913|11.1913	0.48687|0.48687	0.0:0.914:0.0:0.086|0.0:0.914:0.0:0.086	.|.	143;143;143;354;338;338;143;293|.	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7|.	.;.;.;.;.;TACC1_HUMAN;.;.|.	Q|K	143;143;143;354;293;310;338;338;143|113	ENSP00000428687:P143Q;ENSP00000428450:P143Q;ENSP00000393647:P354Q;ENSP00000428706:P293Q;ENSP00000430355:P310Q;ENSP00000321703:P338Q;ENSP00000369263:P338Q;ENSP00000430959:P143Q|.	ENSP00000321703:P338Q|.	P|Q	+|+	2|1	0|0	TACC1|TACC1	38796932|38796932	0.350000|0.350000	0.24878|0.24878	0.998000|0.998000	0.56505|0.56505	0.946000|0.946000	0.59487|0.59487	2.512000|2.512000	0.45485|0.45485	2.440000|2.440000	0.82611|0.82611	0.563000|0.563000	0.77884|0.77884	CCA|CAA	0	NULL		0.502	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	protein_coding	OTTHUMT00000376768.1	42	129	0	1.53	0	2	C	NM_006283	0	0		38677775	1	no_errors	ENST00000379931	ensembl	human	known	74_37	missense	66	166	9.46	6.21	7	11	SNP	0.998	A	A	38677775	C	A	38677775	3	1	104	1	0	0	0	0	1	0	0	0	15498	594	21	5	1023	5	TACC1	8	38677775	Missense_Mutation	SNP	C	TCGA-ZB-A96F-01A-11D-A428-09		38677775	107686247	4	2065											
NFKBIL2	4796	genome.wustl.edu	37	chr8	145663936	145663936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccccatgtcgtttcgcCggttccactgtgggcacagc	4	11	10	16	3	1	0	0	0	1	0	5	0	2	0	4	2	1	3	4	2	0	2			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr8:145663936C>T	ENST00000409379.3	-	13	1600	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	524					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						GTCGTTTCGCCGGTTCCACTG	0.706																																							0											0													49	50	49					8																	145663936		2203	4299	6502	SO:0001583	missense	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1571G>A	8.37:g.145663936C>T	ENSP00000386239:p.Arg524Gln		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.R524Q	ENST00000409379.3	37	c.1571	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550985	0.65311	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.70399	-0.48	5.01	4.13	0.48395	Ankyrin repeat-containing domain (3);	0.055831	0.64402	D	0.000002	T	0.70219	0.3199	N	0.14661	0.345	0.41900	D	0.990416	D	0.89917	1.0	D	0.80764	0.994	T	0.73889	-0.3840	10	0.66056	D	0.02	-33.9744	11.053	0.47901	0.0:0.9083:0.0:0.0917	.	524	Q96HA7	TONSL_HUMAN	Q	524	ENSP00000386239:R524Q	ENSP00000386239:R524Q	R	-	2	0	TONSL	145634744	0.997000	0.39634	0.998000	0.56505	0.337000	0.28794	2.777000	0.47717	1.117000	0.41842	0.491000	0.48974	CGG	0	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.706	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	protein_coding	OTTHUMT00000329668.2	60	74	1.64	0.00	1	0	C	NM_013432	0	0		145663936	-1	no_errors	ENST00000409379	ensembl	human	known	74_37	missense	56	78	15.15	10.34	10	9	SNP	0.998	T	T	145663936	C	T	145663936	3	4	104	1	0	0	0	0	1	0	0	0	10382	652	23	2	2621	2	NFKBIL2	8	145663936	Missense_Mutation	SNP	C	TCGA-ZB-A96F-01A-11D-A428-09	106986161	145663936	700086	5	2066											
C9orf43	257169	genome.wustl.edu	37	chr9	116183409	116183409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgaatttgaatgagacGcaacttccctgccctgaaga	11	11	10	9	1	0	5	0	4	0	2	1	6	1	5	2	0	2	2	2	0	4	3	rs372647158		TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr9:116183409G>A	ENST00000288462.4	+	5	818	c.372G>A	c.(370-372)acG>acA	p.T124T	C9orf43_ENST00000374165.1_Silent_p.T124T|C9orf43_ENST00000490544.1_3'UTR	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	124										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGAATGAGACGCAACTTCCCT	0.398													G|||	1	0.000199681	0	0	5008	,	,		20422	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0													160	140	147					9																	116183409		2203	4300	6503	SO:0001819	synonymous_variant	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.372G>A	9.37:g.116183409G>A				Silent	SNP	NULL	p.T124	ENST00000288462.4	37	c.372	CCDS6796.1	9																																																																																			0	NULL		0.398	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	protein_coding	OTTHUMT00000053739.1	21	189	0	0.00	0	0	G	NM_152786	rs372647158	G->A		116183409	1	no_errors	ENST00000288462	ensembl	human	known	74_37	silent	24	278	11.11	5.44	3	16	SNP	0.093	A	A	116183409	G	A	116183409	2	1	104	1	0	0	0	0	0	0	0	1	2483	1074	38	1		1	C9orf43	9	116183409	Silent	SNP	G	TCGA-ZB-A96F-01A-11D-A428-09		116183409	25030022	6	2067											
RIMBP2	23504	genome.wustl.edu	37	chr12	130935797	130935797	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggaaggtgggcttggcGgacagaggctccggcctgtc	7	6	18	10	2	0	1	0	0	0	1	2	4	1	3	2	7	0	2	2	7	1	1			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr12:130935797G>A	ENST00000261655.4	-	5	559	c.396C>T	c.(394-396)tcC>tcT	p.S132S	RIMBP2_ENST00000535703.1_Silent_p.S40S|RIMBP2_ENST00000536002.1_Silent_p.S40S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	132					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S132S(1)		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)		TGGGCTTGGCGGACAGAGGCT	0.642																																							0											1	Substitution - coding silent(1)	NS(1)											59	57	58					12																	130935797		2203	4300	6503	SO:0001819	synonymous_variant	0			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.396C>T	12.37:g.130935797G>A			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.S132	ENST00000261655.4	37	c.396	CCDS31925.1	12																																																																																			0	NULL		0.642	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	59	59	0	0.00	0	0	G	NM_015347	0	0		130935797	-1	no_errors	ENST00000261655	ensembl	human	known	74_37	silent	50	43	16.67	20.37	10	11	SNP	0.928	A	A	130935797	G	A	130935797	2	1	104	1	0	0	0	0	0	0	0	1	13363	1103	39	2		2	RIMBP2	12	130935797	Silent	SNP	G	TCGA-ZB-A96F-01A-11D-A428-09		130935797	2916098	7	2068											
BRCA2	675	genome.wustl.edu	37	chr13	32921032	32921032	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgattacctgtgtaccctttCggtaagacatgtttaaattt	10	16	7	8	2	0	1	0	0	0	1	1	2	0	1	2	1	2	3	2	1	5	7	rs80359632|rs397507890|rs431825347		TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr13:32921032C>T	ENST00000380152.3	+	13	7239	c.7006C>T	c.(7006-7008)Cgc>Tgc	p.R2336C	BRCA2_ENST00000544455.1_Splice_Site_p.R2336C			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2336			R -> H (in FANCD1; dbSNP:rs28897743). {ECO:0000269|PubMed:16825431, ECO:0000269|PubMed:17924331}.|R -> Q (in dbSNP:rs28897743).		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)		TGTACCCTTTCGGTAAGACAT	0.279			"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)		0	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													78	79	79					13																	32921032		2202	4293	6495	SO:0001630	splice_region_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)	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.7007+1C>T	13.37:g.32921032C>T			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.R2336C	ENST00000380152.3	37	c.7006	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	3.953	-0.011934	0.07727	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.75704	-0.96;-0.96	5.03	-5.6	0.02497	.	0.901808	0.09597	N	0.780759	T	0.37865	0.1019	N	0.01742	-0.745	0.21290	N	0.999738	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	10	0.38643	T	0.18	.	1.7491	0.02968	0.181:0.3815:0.1324:0.3051	.	2336	P51587	BRCA2_HUMAN	C	2336	ENSP00000369497:R2336C;ENSP00000439902:R2336C	ENSP00000369497:R2336C	R	+	1	0	BRCA2	31819032	0.064000	0.20934	0.162000	0.22713	0.356000	0.29392	-0.029000	0.12329	-0.633000	0.05545	-1.324000	0.01287	CGC	0	pirsf_BRCA2		0.279	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	protein_coding	OTTHUMT00000046000.2	73	270	0	0.37	0	1	C	NM_000059	rs431825347	C->G,T	Missense_Mutation	32921032	1	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	80	336	13.98	15.33	13	61	SNP	0.118	T	T	32921032	C	T	32921032	5	4	104	1	0	0	0	0	0	0	1	0	1499	898	31	2	7052	2	BRCA2	13	32921032	Splice_Site	SNP	C	TCGA-ZB-A96F-01A-11D-A428-09		32921032	82248846	8	2069											
ARID3B	10620	genome.wustl.edu	37	chr15	74883596	74883596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcagggagggccggcggcCcagctacagctcctccctct	5	5	13	18	3	1	0	0	0	1	0	3	1	3	1	5	4	3	3	5	4	1	1			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr15:74883596C>G	ENST00000346246.5	+	6	1217	c.986C>G	c.(985-987)cCc>cGc	p.P329R		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	329	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						GGCCGGCGGCCCAGCTACAGC	0.612																																							0											0													69	83	78					15																	74883596		2197	4296	6493	SO:0001583	missense	0				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.986C>G	15.37:g.74883596C>G	ENSP00000343126:p.Pro329Arg		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P329R	ENST00000346246.5	37	c.986	CCDS10264.1	15	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712507	0.68730	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.52057	0.68	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.63843	1.955	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.996;0.999	D;P;D	0.72075	0.947;0.86;0.976	T	0.68334	-0.5436	10	0.54805	T	0.06	-17.7279	18.889	0.92391	0.0:1.0:0.0:0.0	.	329;329;329	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	R	329	ENSP00000343126:P329R	ENSP00000343126:P329R	P	+	2	0	ARID3B	72670649	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	2.244000	0.43124	2.472000	0.83506	0.655000	0.94253	CCC	0	NULL		0.612	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	protein_coding	OTTHUMT00000280688.2	56	61	0	1.59	0	1	C	NM_006465	0	0		74883596	1	no_errors	ENST00000346246	ensembl	human	known	74_37	missense	45	66	16.67	13.16	9	10	SNP	1	G	G	74883596	C	G	74883596	3	3	104	1	0	0	0	0	1	0	0	0	917	623	22	5	1004	5	ARID3B	15	74883596	Missense_Mutation	SNP	C	TCGA-ZB-A96F-01A-11D-A428-09		74883596	27647796	9	2070											
WDR90	197335	genome.wustl.edu	37	chr16	712780	712780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcaccacggcgggcaCgctgtggtttgtcagctggg	4	8	18	11	4	1	0	1	0	0	0	1	0	1	0	1	5	1	5	1	5	0	1	rs576866547	byFrequency	TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr16:712780C>T	ENST00000293879.4	+	34	4247	c.4247C>T	c.(4246-4248)aCg>aTg	p.T1416M	WDR90_ENST00000549091.1_Missense_Mutation_p.T1418M|WDR90_ENST00000315764.4_5'Flank|WDR90_ENST00000547944.1_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1416										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACGGCGGGCACGCTGTGGTTT	0.652													C|||	2	0.000399361	0.0015	0	5008	,	,		17268	0		0	False		,,,				2504	0						0.9996,0.0003994											0													35	37	36					16																	712780		2134	4231	6365	SO:0001583	missense	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4247C>T	16.37:g.712780C>T	ENSP00000293879:p.Thr1416Met		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1418M	ENST00000293879.4	37	c.4253	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720665	0.48728	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.32272	1.46;1.46	5.0	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000001	T	0.51702	0.1690	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.53436	-0.8439	10	0.62326	D	0.03	.	12.0694	0.53607	0.0:0.9166:0.0:0.0834	.	1418;1416	F8VUX9;Q96KV7	.;WDR90_HUMAN	M	1418;1416	ENSP00000448122:T1418M;ENSP00000293879:T1416M	ENSP00000293879:T1416M	T	+	2	0	WDR90	652781	1.000000	0.71417	0.222000	0.23844	0.009000	0.06853	5.581000	0.67471	1.105000	0.41606	0.491000	0.48974	ACG	0	superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.652	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	protein_coding	OTTHUMT00000404335.1	19	58	0	0.00	0	0	C	NM_145294	rs576866547	C->T		712780	1	no_errors	ENST00000549091	ensembl	human	novel	74_37	missense	28	62	9.68	8.82	3	6	SNP	0.998	T	T	712780	C	T	712780	3	4	104	1	0	0	0	0	1	0	0	0	17334	536	19	1	4381	1	WDR90	16	712780	Missense_Mutation	SNP	C	TCGA-ZB-A96F-01A-11D-A428-09		712780	89641973	10	2071											
SLC12A3	6559	genome.wustl.edu	37	chr16	56918063	56918063	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtgggcggccctcaTcgccattggcgtggtgctct	3	10	14	14	3	2	0	1	0	1	0	3	0	2	0	3	5	1	1	3	5	0	1			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr16:56918063T>A	ENST00000563236.1	+	14	1797	c.1772T>A	c.(1771-1773)aTc>aAc	p.I591N	SLC12A3_ENST00000566786.1_Missense_Mutation_p.I590N|SLC12A3_ENST00000262502.5_Missense_Mutation_p.I590N|SLC12A3_ENST00000438926.2_Missense_Mutation_p.I591N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	591					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)	GCGGCCCTCATCGCCATTGGC	0.597																																							0											0													158	131	140					16																	56918063		2198	4300	6498	SO:0001583	missense	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1772T>A	16.37:g.56918063T>A	ENSP00000456149:p.Ile591Asn		A8MSJ2|C9JNN9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.I591N	ENST00000563236.1	37	c.1772	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	T	24.1	4.495076	0.85069	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.04	5.04	0.67666	Amino acid permease domain (1);	0.051367	0.85682	D	0.000000	D	0.85141	0.5629	M	0.92077	3.27	0.80722	D	1	D;D;D	0.63046	0.991;0.992;0.991	D;D;D	0.71184	0.936;0.972;0.953	D	0.89034	0.3444	9	0.87932	D	0	.	14.7736	0.69699	0.0:0.0:0.0:1.0	.	590;591;591	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	N	590;591	.	ENSP00000262502:I591N	I	+	2	0	SLC12A3	55475564	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.896000	0.87350	1.892000	0.54788	0.379000	0.24179	ATC	0	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS		0.597	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	protein_coding	OTTHUMT00000432337.1	24	119	0	0.00	0	0	T		0	0		56918063	1	no_errors	ENST00000438926	ensembl	human	known	74_37	missense	22	108	15.38	21.17	4	29	SNP	1	A	A	56918063	T	A	56918063	3	1	104	1	0	0	0	0	1	0	0	0	14384	1435	50	5	1826	5	SLC12A3	16	56918063	Missense_Mutation	SNP	T	TCGA-ZB-A96F-01A-11D-A428-09	56205283	56918063	33436690	11	2072											
JPH3	57338	genome.wustl.edu	37	chr16	87723875	87723875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaagggcggcgcctgcCggggcttgggggacgaccac	7	3	18	13	4	0	0	0	0	0	0	0	2	0	1	3	6	2	2	3	6	1	1			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr16:87723875C>T	ENST00000284262.2	+	4	2151	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	637					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)		CGGCGCCTGCCGGGGCTTGGG	0.647																																							0											0													11	12	12					16																	87723875		2172	4276	6448	SO:0001583	missense	0			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.1909C>T	16.37:g.87723875C>T	ENSP00000284262:p.Arg637Trp		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.R637W	ENST00000284262.2	37	c.1909	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793413	0.31685	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.50001	0.76	4.42	4.42	0.53409	.	0.168474	0.38217	N	0.001771	T	0.35098	0.0920	L	0.27053	0.805	0.42198	D	0.991754	B	0.09022	0.002	B	0.01281	0.0	T	0.25676	-1.0125	10	0.66056	D	0.02	.	11.9	0.52678	0.1868:0.8132:0.0:0.0	.	637	Q8WXH2	JPH3_HUMAN	W	500;637	ENSP00000284262:R637W	ENSP00000284262:R637W	R	+	1	2	JPH3	86281376	1.000000	0.71417	0.773000	0.31616	0.140000	0.21249	2.776000	0.47709	2.020000	0.59435	0.655000	0.94253	CGG	0	pirsf_Junctophilin		0.647	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	protein_coding	OTTHUMT00000269108.2	67	53	0	1.85	0	1	C		0	0		87723875	1	no_errors	ENST00000284262	ensembl	human	known	74_37	missense	55	54	15.38	11.48	10	7	SNP	1	T	T	87723875	C	T	87723875	3	4	104	1	0	0	0	0	1	0	0	0	7962	643	23	2	1923	2	JPH3	16	87723875	Missense_Mutation	SNP	C	TCGA-ZB-A96F-01A-11D-A428-09	30805812	87723875	2630878	12	2073											
NPLOC4	55666	genome.wustl.edu	37	chr17	79596825	79596825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatccggggactggacacGaattatctgttgcaaacaaa	13	9	9	10	2	1	0	0	0	1	0	3	3	3	2	2	3	2	2	2	3	4	2			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr17:79596825G>A	ENST00000331134.6	-	2	237	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C	NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000374747.5_Missense_Mutation_p.R8C	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	8					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)	p.R8C(1)		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)			GACTGGACACGAATTATCTGT	0.463																																							0											1	Substitution - Missense(1)	lung(1)											177	176	176					17																	79596825		2002	4181	6183	SO:0001583	missense	0			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.22C>T	17.37:g.79596825G>A	ENSP00000331487:p.Arg8Cys		Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4	p.R8C	ENST00000331134.6	37	c.22	CCDS45812.1	17	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912566	0.72983	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	4.28	4.28	0.50868	Nuclear pore localisation protein Npl4, ubiquitin-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83416	0.0030	9	0.87932	D	0	-14.1978	16.6546	0.85225	0.0:0.0:1.0:0.0	.	8;8	Q8TAT6-2;Q8TAT6	.;NPL4_HUMAN	C	8;7	.	ENSP00000331487:R8C	R	-	1	0	NPLOC4	77207230	1.000000	0.71417	0.912000	0.35992	0.696000	0.40369	5.580000	0.67464	2.077000	0.62373	0.655000	0.94253	CGT	0	pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4		0.463	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPLOC4	protein_coding	OTTHUMT00000440140.1	43	165	0	0.00	0	0	G		0	0		79596825	-1	no_errors	ENST00000374747	ensembl	human	known	74_37	missense	13	245	23.53	9.93	4	27	SNP	1	A	A	79596825	G	A	79596825	3	1	104	1	0	0	0	0	1	0	0	0	10586	1058	37	2	1868	2	NPLOC4	17	79596825	Missense_Mutation	SNP	G	TCGA-ZB-A96F-01A-11D-A428-09		79596825	1598385	13	2074											
SPTBN4	57731	genome.wustl.edu	37	chr19	41029463	41029463	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaaagatgcaggtggcCgtgcaggctgcagagggcct	10	5	16	10	1	0	2	0	0	0	2	0	2	0	2	2	4	4	5	2	4	2	0			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chr19:41029463C>G	ENST00000352632.3	+	17	3860	c.3774C>G	c.(3772-3774)gcC>gcG	p.A1258A	SPTBN4_ENST00000598249.1_Silent_p.A1258A|SPTBN4_ENST00000338932.3_Silent_p.A1258A|SPTBN4_ENST00000344104.3_Silent_p.A1258A|SPTBN4_ENST00000595535.1_Silent_p.A1258A|SPTBN4_ENST00000392025.1_5'Flank			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1258					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)			TGCAGGTGGCCGTGCAGGCTG	0.632																																							0											0													61	51	54					19																	41029463		2203	4300	6503	SO:0001819	synonymous_variant	0			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.3774C>G	19.37:g.41029463C>G			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.A1258	ENST00000352632.3	37	c.3774	CCDS12559.1	19																																																																																			0	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	27	91	0	0.00	0	0	C		0	0		41029463	1	no_errors	ENST00000352632	ensembl	human	known	74_37	silent	31	70	22.5	17.65	9	15	SNP	0.997	G	G	41029463	C	G	41029463	2	3	104	1	0	0	0	0	0	0	0	1	15120	639	23	5		5	SPTBN4	19	41029463	Silent	SNP	C	TCGA-ZB-A96F-01A-11D-A428-09		41029463	18099520	14	2075											
SLC38A5	92745	genome.wustl.edu	37	chrX	48326271	48326271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgactcaccccacagcatccGaagggagggctccattcatc	10	7	9	15	1	2	1	2	1	0	0	5	3	4	2	4	2	1	2	4	2	1	1			TCGA-ZB-A96F-01A-11D-A428-09	TCGA-ZB-A96F-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1666b51d-314f-40e3-8371-fdc786f182bd	bd86ad4c-7124-4c89-96f1-a9542615b78f	g.chrX:48326271G>A	ENST00000376876.3	-	2	884	c.41C>T	c.(40-42)tCg>tTg	p.S14L	SLC38A5_ENST00000376875.1_5'Flank|SLC38A5_ENST00000317669.5_Missense_Mutation_p.S14L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	14					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						CACAGCATCCGAAGGGAGGGC	0.557																																							0											0													58	46	50					X																	48326271		2203	4298	6501	SO:0001583	missense	0			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.41C>T	X.37:g.48326271G>A	ENSP00000366073:p.Ser14Leu		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.S14L	ENST00000376876.3	37	c.41	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	g	9.422	1.083262	0.20309	.	.	ENSG00000017483	ENST00000376876;ENST00000317669;ENST00000440085;ENST00000441948;ENST00000413668;ENST00000416711;ENST00000429543	T;T;T;T;T;T;T	0.46451	3.09;3.09;1.5;1.5;1.48;1.47;0.87	4.41	2.46	0.29980	.	1.913480	0.02268	N	0.068168	T	0.25938	0.0632	N	0.08118	0	0.09310	N	1	B	0.24092	0.097	B	0.14578	0.011	T	0.23440	-1.0188	10	0.66056	D	0.02	.	5.8519	0.18697	0.0:0.2259:0.5603:0.2138	.	14	Q8WUX1	S38A5_HUMAN	L	14	ENSP00000366073:S14L;ENSP00000313740:S14L;ENSP00000402988:S14L;ENSP00000407258:S14L;ENSP00000403976:S14L;ENSP00000389644:S14L;ENSP00000416948:S14L	ENSP00000313740:S14L	S	-	2	0	SLC38A5	48211215	0.000000	0.05858	0.153000	0.22517	0.361000	0.29550	-0.454000	0.06770	0.664000	0.31047	0.292000	0.19580	TCG	0	NULL		0.557	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	protein_coding	OTTHUMT00000060724.1	46	81	0	0.00	0	0	G	NM_033518	0	0		48326271	-1	no_errors	ENST00000317669	ensembl	human	known	74_37	missense	66	100	16.46	29.58	13	42	SNP	0.013	A	A	48326271	G	A	48326271	3	1	104	1	0	0	0	0	1	0	0	0	14607	1059	37	2	1437	2	SLC38A5	23	48326271	Missense_Mutation	SNP	G	TCGA-ZB-A96F-01A-11D-A428-09		48326271	106944289	15	2076											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121652082	121652082	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgccctctctggtgatggGgaatggtctggagcctcttc	5	12	13	11	0	3	1	0	1	3	0	5	3	3	3	2	5	2	0	2	5	1	1			TCGA-ZB-A96G-01A-11D-A428-09	TCGA-ZB-A96G-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ee2308ce-4b4b-4d83-9865-5485b968686e	1cbd7dff-ae2c-49e7-9762-1c026803f159	g.chr7:121652082G>C	ENST00000393386.2	+	12	3393	c.2982G>C	c.(2980-2982)ggG>ggC	p.G994G	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	994					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)	p.G994G(2)		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						CTGGTGATGGGGAATGGTCTG	0.448																																							0											2	Substitution - coding silent(2)	central_nervous_system(2)											135	134	134					7																	121652082		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2982G>C	7.37:g.121652082G>C			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.G994	ENST00000393386.2	37	c.2982	CCDS34740.1	7																																																																																			0	NULL		0.448	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	protein_coding	OTTHUMT00000347288.1	81	237	0	0.00	0	0	G	NM_002851	0	0		121652082	1	no_errors	ENST00000393386	ensembl	human	known	74_37	silent	55	194	8.33	4.43	5	9	SNP	0.983	C	C	121652082	G	C	121652082	2	2	105	1	0	0	0	0	0	0	0	1	12814	1219	43	5		5	PTPRZ1	7	121652082	Silent	SNP	G	TCGA-ZB-A96G-01A-11D-A428-09		121652082	37486581	1	2077											
TAF1L	138474	genome.wustl.edu	37	chr9	32633957	32633957	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttggagggggagttagAggtggcctcttccttctcat	5	13	13	10	0	2	1	1	0	2	1	5	3	4	3	3	5	0	1	3	5	1	4			TCGA-ZB-A96G-01A-11D-A428-09	TCGA-ZB-A96G-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ee2308ce-4b4b-4d83-9865-5485b968686e	1cbd7dff-ae2c-49e7-9762-1c026803f159	g.chr9:32633957A>T	ENST00000242310.4	-	1	1710	c.1621T>A	c.(1621-1623)Tct>Act	p.S541T	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	541					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)		GGGGAGTTAGAGGTGGCCTCT	0.493																																							0											0													151	151	151					9																	32633957		2203	4300	6503	SO:0001583	missense	0			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.1621T>A	9.37:g.32633957A>T	ENSP00000418379:p.Ser541Thr		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.S541T	ENST00000242310.4	37	c.1621	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	A	14.44	2.536434	0.45176	.	.	ENSG00000122728	ENST00000242310	T	0.07444	3.19	1.16	1.16	0.20824	.	0.065614	0.64402	D	0.000005	T	0.03871	0.0109	N	0.16368	0.405	0.37334	D	0.910086	B	0.13145	0.007	B	0.14578	0.011	T	0.41215	-0.9521	10	0.09338	T	0.73	.	6.3765	0.21511	1.0:0.0:0.0:0.0	.	541	Q8IZX4	TAF1L_HUMAN	T	541	ENSP00000418379:S541T	ENSP00000418379:S541T	S	-	1	0	TAF1L	32623957	1.000000	0.71417	0.987000	0.45799	0.753000	0.42808	4.407000	0.59754	0.426000	0.26116	0.164000	0.16699	TCT	0	pirsf_TAF1_animal		0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	115	69	0	0.00	0	0	A		0	0		32633957	-1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	76	52	9.52	7.14	8	4	SNP	1	T	T	32633957	A	T	32633957	3	4	105	1	0	0	0	0	1	0	0	0	15520	304	11	5	3863	5	TAF1L	9	32633957	Missense_Mutation	SNP	A	TCGA-ZB-A96G-01A-11D-A428-09		32633957	108579474	2	2078											
RC3H2	54542	genome.wustl.edu	37	chr9	125621159	125621159	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgtcgtacacaggagcaTacattccagaaggtactgga	12	9	11	9	1	0	1	0	0	0	1	2	3	1	3	1	3	5	4	1	3	4	4			TCGA-ZB-A96G-01A-11D-A428-09	TCGA-ZB-A96G-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ee2308ce-4b4b-4d83-9865-5485b968686e	1cbd7dff-ae2c-49e7-9762-1c026803f159	g.chr9:125621159T>C	ENST00000373670.1	-	11	2672	c.2072A>G	c.(2071-2073)tAt>tGt	p.Y691C	RC3H2_ENST00000357244.2_Missense_Mutation_p.Y691C|RC3H2_ENST00000423239.2_Missense_Mutation_p.Y691C			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	691	Pro-rich.				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						CACAGGAGCATACATTCCAGA	0.493																																							0											0													140	143	142					9																	125621159		1986	4162	6148	SO:0001583	missense	0			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.2072A>G	9.37:g.125621159T>C	ENSP00000362774:p.Tyr691Cys		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.Y691C	ENST00000373670.1	37	c.2072	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719963	0.68844	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.58210	0.35;0.35;0.4	5.57	5.57	0.84162	.	0.127353	0.56097	D	0.000030	T	0.61937	0.2387	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.65001	-0.6274	10	0.66056	D	0.02	-18.5553	13.4654	0.61251	0.0:0.0:0.0:1.0	.	691;691	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	C	691;691;562;691	ENSP00000362774:Y691C;ENSP00000349783:Y691C;ENSP00000411767:Y691C	ENSP00000349783:Y691C	Y	-	2	0	RC3H2	124660980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.700000	0.74619	2.109000	0.64355	0.533000	0.62120	TAT	0	NULL		0.493	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	protein_coding	OTTHUMT00000053966.1	83	139	0	0.00	0	0	T	NM_018835	0	0		125621159	-1	no_errors	ENST00000357244	ensembl	human	known	74_37	missense	67	106	8.22	7.02	6	8	SNP	1	C	C	125621159	T	C	125621159	3	2	105	1	0	0	0	0	1	0	0	0	13167	1406	49	3	1621	3	RC3H2	9	125621159	Missense_Mutation	SNP	T	TCGA-ZB-A96G-01A-11D-A428-09	92987202	125621159	15592272	3	2079											
SYNE2	23224	genome.wustl.edu	37	chr14	64453318	64453318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatgatgtggacacctcaAtggaagaatctttgaaggta	15	10	11	5	0	2	4	1	2	1	2	2	6	2	6	1	3	0	1	1	3	6	2	rs556342048		TCGA-ZB-A96G-01A-11D-A428-09	TCGA-ZB-A96G-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ee2308ce-4b4b-4d83-9865-5485b968686e	1cbd7dff-ae2c-49e7-9762-1c026803f159	g.chr14:64453318A>G	ENST00000344113.4	+	19	2508	c.2296A>G	c.(2296-2298)Atg>Gtg	p.M766V	SYNE2_ENST00000358025.3_Missense_Mutation_p.M766V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.M766V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	766					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)		GGACACCTCAATGGAAGAATC	0.343													A|||	1	0.000199681	0	0	5008	,	,		18670	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0													126	119	121					14																	64453318		1863	4102	5965	SO:0001583	missense	0			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.2296A>G	14.37:g.64453318A>G	ENSP00000341781:p.Met766Val		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.M766V	ENST00000344113.4	37	c.2296	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	A	0.086	-1.174940	0.01646	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56103	0.85;0.85;0.48	5.67	-11.3	0.00108	.	1.636630	0.03437	N	0.208638	T	0.21962	0.0529	N	0.01705	-0.755	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24870	-1.0148	10	0.20046	T	0.44	.	12.394	0.55374	0.2103:0.0:0.6355:0.1542	.	766;766	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	766	ENSP00000350719:M766V;ENSP00000341781:M766V;ENSP00000452570:M766V	ENSP00000261678:M766V	M	+	1	0	SYNE2	63523071	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-2.925000	0.00691	-2.953000	0.00292	-2.133000	0.00342	ATG	0	NULL		0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	185	223	0	0.00	0	0	A	NM_182914	rs556342048	A->G		64453318	1	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	100	169	7.41	8.65	8	16	SNP	0	G	G	64453318	A	G	64453318	3	3	105	1	0	0	0	0	1	0	0	0	15443	101	4	3	2366	3	SYNE2	14	64453318	Missense_Mutation	SNP	A	TCGA-ZB-A96G-01A-11D-A428-09		64453318	42896222	4	2080											
C21orf29	54084	genome.wustl.edu	37	chr21	45945637	45945637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctctgatatggggtaaacTtcagctttctgtggctccat	7	15	10	9	0	3	1	1	1	2	0	4	1	4	1	1	3	3	4	1	3	3	4			TCGA-ZB-A96G-01A-11D-A428-09	TCGA-ZB-A96G-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ee2308ce-4b4b-4d83-9865-5485b968686e	1cbd7dff-ae2c-49e7-9762-1c026803f159	g.chr21:45945637T>C	ENST00000323084.4	-	8	1300	c.1235A>G	c.(1234-1236)aAg>aGg	p.K412R	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Missense_Mutation_p.K344R	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	412					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						TGGGGTAAACTTCAGCTTTCT	0.522																																							0											0													199	196	197					21																	45945637		2203	4300	6503	SO:0001583	missense	0			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.1235A>G	21.37:g.45945637T>C	ENSP00000321987:p.Lys412Arg			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.K412R	ENST00000323084.4	37	c.1235	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	T	9.318	1.057346	0.19907	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.81163	-1.46;-1.46	4.32	3.23	0.37069	.	0.163459	0.52532	N	0.000075	T	0.67011	0.2848	L	0.37750	1.13	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.54529	-0.8280	10	0.15499	T	0.54	-6.8571	7.0656	0.25149	0.0:0.1191:0.0:0.8809	.	412	Q8WU66	TSEAR_HUMAN	R	412;265;344;413	ENSP00000321987:K412R;ENSP00000381012:K344R	ENSP00000321987:K412R	K	-	2	0	TSPEAR	44770065	0.991000	0.36638	0.981000	0.43875	0.840000	0.47671	1.697000	0.37784	0.731000	0.32448	0.402000	0.26972	AAG	0	pfam_EPTP,pfscan_EAR		0.522	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	protein_coding	OTTHUMT00000098761.1	51	173	0	0.00	0	0	T	NM_144991	0	0		45945637	-1	no_errors	ENST00000323084	ensembl	human	known	74_37	missense	59	129	9.23	7.19	6	10	SNP	0.993	C	C	45945637	T	C	45945637	3	2	105	1	0	0	0	0	1	0	0	0	2124	1609	56	4	794	4	C21orf29	21	45945637	Missense_Mutation	SNP	T	TCGA-ZB-A96G-01A-11D-A428-09		45945637	2184258	5	2081											
NLRC4	58484	genome.wustl.edu	37	chr2	32477618	32477618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatcctgctccaccttCtcgcagcaaatgatgtttac	9	11	7	14	1	1	1	0	1	1	0	4	1	3	1	3	0	4	6	3	0	2	3			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr2:32477618C>A	ENST00000404025.2	-	4	620	c.132G>T	c.(130-132)gaG>gaT	p.E44D	NLRC4_ENST00000342905.6_Missense_Mutation_p.E44D|NLRC4_ENST00000360906.5_Missense_Mutation_p.E44D|NLRC4_ENST00000402280.1_Missense_Mutation_p.E44D			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	44	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTCCACCTTCTCGCAGCAAA	0.393																																							0											0													177	161	167					2																	32477618		2203	4300	6503	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.132G>T	2.37:g.32477618C>A	ENSP00000385090:p.Glu44Asp		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD	p.E44D	ENST00000404025.2	37	c.132	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	C	4.830	0.154373	0.09236	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.6	1.74	0.24563	DEATH-like (2);Caspase Recruitment (2);	0.466047	0.15794	N	0.244287	T	0.09512	0.0234	L	0.27053	0.805	0.30805	N	0.7394149999999999	P;P	0.40731	0.728;0.643	B;B	0.37346	0.219;0.247	T	0.16867	-1.0388	9	0.02654	T	1	-3.3035	4.6557	0.12617	0.3796:0.5125:0.0:0.1079	.	44;44	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	D	44	ENSP00000354159:E44D;ENSP00000385428:E44D;ENSP00000339666:E44D;ENSP00000385090:E44D	ENSP00000339666:E44D	E	-	3	2	NLRC4	32331122	0.012000	0.17670	0.082000	0.20525	0.261000	0.26267	0.053000	0.14184	0.494000	0.27859	0.411000	0.27672	GAG	0	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD		0.393	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	protein_coding	OTTHUMT00000325222.2	52	192	0	0.00	0	0	C	NM_021209	0	0		32477618	-1	no_errors	ENST00000360906	ensembl	human	known	74_37	missense	44	121	34.33	45.98	23	103	SNP	0.468	A	A	32477618	C	A	32477618	3	1	106	1	0	0	0	0	1	0	0	0	10469	912	32	5	2970	5	NLRC4	2	32477618	Missense_Mutation	SNP	C	TCGA-ZB-A96H-01A-11D-A428-09		32477618	210721755	1	2082											
PKP4	8502	genome.wustl.edu	37	chr2	159530414	159530414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgggtggaatcagaaccAttttattacacctgtgtcga	11	12	11	7	1	1	1	1	0	0	1	2	4	1	3	2	3	2	0	2	3	4	3			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr2:159530414A>G	ENST00000389759.3	+	19	3141	c.3029A>G	c.(3028-3030)cAt>cGt	p.H1010R	PKP4_ENST00000389757.3_Missense_Mutation_p.H1010R|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1010					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						AATCAGAACCATTTTATTACA	0.398										HNSCC(62;0.18)																													0											0													152	139	143					2																	159530414		2203	4300	6503	SO:0001583	missense	0			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.3029A>G	2.37:g.159530414A>G	ENSP00000374409:p.His1010Arg		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.H1010R	ENST00000389759.3	37	c.3029	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265393	0.80358	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.75704	-0.93;-0.96	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.84138	0.5406	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.991	D;D;P	0.83275	0.983;0.996;0.764	D	0.83441	0.0043	10	0.39692	T	0.17	-14.8356	16.1485	0.81594	1.0:0.0:0.0:0.0	.	965;1010;1010	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	R	1010	ENSP00000374407:H1010R;ENSP00000374409:H1010R	ENSP00000374407:H1010R	H	+	2	0	PKP4	159238660	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.281000	0.76405	0.533000	0.62120	CAT	0	NULL		0.398	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	protein_coding	OTTHUMT00000333250.1	49	213	0	0.00	0	0	A		0	0		159530414	1	no_errors	ENST00000389759	ensembl	human	known	74_37	missense	32	269	11.11	17.74	4	58	SNP	1	G	G	159530414	A	G	159530414	3	3	106	1	0	0	0	0	1	0	0	0	11987	217	8	3	3099	3	PKP4	2	159530414	Missense_Mutation	SNP	A	TCGA-ZB-A96H-01A-11D-A428-09	127052796	159530414	83668959	2	2083											
DNER	92737	genome.wustl.edu	37	chr2	230456533	230456535	+	In_Frame_Del	DEL	GCT	GCT	-																															caaatgcagaggtagccatcGctgctgctgctgctgctgct																								rs376000556	byFrequency	TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	GCT	GCT	GCT	-	GCT	GCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	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											0																																										SO:0001651	inframe_deletion	0			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		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																																																																																			0	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	28	51	0	0.00	0	0	GCT	NM_139072	0	0		230456535	-1	no_errors	ENST00000341772	ensembl	human	known	74_37	in_frame_del	35	53	7.89	5.36	3	3	DEL	0.003:0.004:0.006	0	-	230456535	GCT	-	230456533	7	5	106	1	0	1	0	1	0	0	0	0	4667	1078	38	0	1913	0	DNER	2	230456533	In_Frame_Del	DEL	GCT	TCGA-ZB-A96H-01A-11D-A428-09	70926119	230456533	12742840	3	2084											
UBA6	55236	genome.wustl.edu	37	chr4	68488877	68488877	+	Frame_Shift_Del	DEL	G	G	-																															actgcatttatgaaatccaaGagggtgaaatcttcttttcc																										TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr4:68488877delG	ENST00000322244.5	-	31	2963	c.2904delC	c.(2902-2904)ctcfs	p.L969fs		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	969					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						TGAAATCCAAGAGGGTGAAAT	0.294																																							0											0													91	89	90					4																	68488877		2203	4297	6500	SO:0001589	frameshift_variant	0			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.2904delC	4.37:g.68488877delG	ENSP00000313454:p.Leu969fs		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Frame_Shift_Del	DEL	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.L969fs	ENST00000322244.5	37	c.2904	CCDS3516.1	4																																																																																			0	pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1		0.294	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	protein_coding	OTTHUMT00000251429.2	79	264	0	0.00	0	0	G	NM_018227	0	0		68488877	-1	no_errors	ENST00000322244	ensembl	human	known	74_37	frame_shift_del	72	321	16.28	9.32	14	33	DEL	0.959	0	-	68488877	G	-	68488877	7	5	106	1	0	1	0	1	0	0	0	0	16829	929	33	0	266	0	UBA6	4	68488877	Frame_Shift_Del	DEL	G	TCGA-ZB-A96H-01A-11D-A428-09		68488877	122665399	4	2085											
SLC25A46	91137	genome.wustl.edu	37	chr5	110074966	110074966	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacgactcccccagataTccccggcagccgcaacctgc	8	5	10	18	3	0	2	0	1	0	1	2	3	2	2	6	2	3	2	6	2	2	1			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr5:110074966T>G	ENST00000355943.3	+	1	272	c.146T>G	c.(145-147)aTc>aGc	p.I49S	SLC25A46_ENST00000509442.2_Intron|SLC25A46_ENST00000504098.1_5'Flank|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000447245.2_Missense_Mutation_p.I49S	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	49					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CCCCCAGATATCCCCGGCAGC	0.697																																							0											0													13	15	14					5																	110074966		2180	4268	6448	SO:0001583	missense	0			BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"Solute carriers"	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.146T>G	5.37:g.110074966T>G	ENSP00000348211:p.Ile49Ser		A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.I49S	ENST00000355943.3	37	c.146	CCDS4100.1	5	.	.	.	.	.	.	.	.	.	.	T	25.3	4.626708	0.87560	.	.	ENSG00000164209	ENST00000355943;ENST00000447245	D;D	0.88509	-2.25;-2.39	5.1	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.86393	0.5922	M	0.63428	1.95	0.80722	D	1	B	0.30851	0.297	B	0.30943	0.122	D	0.84637	0.0693	10	0.87932	D	0	-10.692	10.685	0.45837	0.0:0.076:0.0:0.9239	.	49	Q96AG3	S2546_HUMAN	S	49	ENSP00000348211:I49S;ENSP00000399717:I49S	ENSP00000348211:I49S	I	+	2	0	SLC25A46	110102865	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.699000	0.74613	0.948000	0.37687	0.528000	0.53228	ATC	0	NULL		0.697	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A46	protein_coding	OTTHUMT00000250721.5	84	72	0	0.00	0	0	T	NM_138773	0	0		110074966	1	no_errors	ENST00000355943	ensembl	human	known	74_37	missense	52	47	46.94	40.74	46	33	SNP	1	G	G	110074966	T	G	110074966	3	3	106	1	0	0	0	0	1	0	0	0	14511	1435	50	5	148	5	SLC25A46	5	110074966	Missense_Mutation	SNP	T	TCGA-ZB-A96H-01A-11D-A428-09		110074966	70840294	5	2086											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	354	110	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	225	69	39.84	50.36	149	70	SNP	1	A	A	74146970	T	A	74146970	3	1	106	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A96H-01A-11D-A428-09		74146970	84991693	6	2087											
TSPYL5	85453	genome.wustl.edu	37	chr8	98289254	98289254	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctgtttaagtagctcagTacctctttctcttggctatt	8	17	7	9	0	3	0	1	0	2	0	4	0	3	0	1	1	3	6	1	1	5	8	rs146046752	byFrequency	TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr8:98289254T>A	ENST00000322128.3	-	1	922	c.819A>T	c.(817-819)gtA>gtT	p.V273V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	273					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					AGTAGCTCAGTACCTCTTTCT	0.478																																							0											0													70	77	75					8																	98289254		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.819A>T	8.37:g.98289254T>A			B3KRF0|Q9C0B3	Silent	SNP	pfam_NAP_family	p.V273	ENST00000322128.3	37	c.819	CCDS34927.1	8																																																																																			0	pfam_NAP_family		0.478	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	protein_coding	OTTHUMT00000380611.1	32	171	0	0.00	0	0	T	NM_033512	0	0		98289254	-1	no_errors	ENST00000322128	ensembl	human	known	74_37	silent	20	223	25.93	16.48	7	44	SNP	0	A	A	98289254	T	A	98289254	2	1	106	1	0	0	0	0	0	0	0	1	16659	1625	57	5		5	TSPYL5	8	98289254	Silent	SNP	T	TCGA-ZB-A96H-01A-11D-A428-09		98289254	48074768	7	2088											
PHF2	5253	genome.wustl.edu	37	chr9	96435987	96435987	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggccaggccaaggggagCtcgctggctgcccatggtgc	5	6	17	13	1	0	0	0	0	0	0	1	1	0	1	3	6	3	4	3	6	1	0			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr9:96435987C>T	ENST00000359246.4	+	18	2836	c.2469C>T	c.(2467-2469)agC>agT	p.S823S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	823				S -> G (in Ref. 1; AAD21791). {ECO:0000305}.	liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCAAGGGGAGCTCGCTGGCTG	0.637																																							0											0													46	45	46					9																	96435987		2203	4300	6503	SO:0001819	synonymous_variant	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2469C>T	9.37:g.96435987C>T			Q4VXG0|Q8N3K2|Q9Y6N4	Silent	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.S823	ENST00000359246.4	37	c.2469	CCDS35069.1	9																																																																																			0	NULL		0.637	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	protein_coding	OTTHUMT00000053162.1	44	2	0	0.00	0	0	C	NM_005392	0	0		96435987	1	no_errors	ENST00000359246	ensembl	human	known	74_37	silent	31	7	11.43	0.00	4	0	SNP	1	T	T	96435987	C	T	96435987	2	4	106	1	0	0	0	0	0	0	0	1	11830	796	28	3		3	PHF2	9	96435987	Silent	SNP	C	TCGA-ZB-A96H-01A-11D-A428-09		96435987	44777444	8	2089											
MYOF	26509	genome.wustl.edu	37	chr10	95097618	95097618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatactgtccgcatttttcaTgttcccctgaggaagcataa	10	14	7	10	1	1	1	1	1	0	0	3	2	3	2	3	1	2	3	3	1	4	6			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr10:95097618T>C	ENST00000359263.4	-	40	4390	c.4391A>G	c.(4390-4392)cAt>cGt	p.H1464R	MYOF_ENST00000371501.4_Missense_Mutation_p.H1464R|MYOF_ENST00000358334.5_Missense_Mutation_p.H1451R|MYOF_ENST00000371502.4_Missense_Mutation_p.H1483R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1464					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						GCATTTTTCATGTTCCCCTGA	0.423																																							0											0													179	165	169					10																	95097618		1919	4132	6051	SO:0001583	missense	0			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.4391A>G	10.37:g.95097618T>C	ENSP00000352208:p.His1464Arg		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.H1464R	ENST00000359263.4	37	c.4391	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	T	8.626	0.892593	0.17613	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.82344	-1.58;-1.58;-1.59;-1.6	5.78	-3.07	0.05363	.	0.556311	0.21158	N	0.079205	T	0.62122	0.2402	N	0.17474	0.49	0.28031	N	0.934118	B;B	0.20459	0.0;0.045	B;B	0.18263	0.002;0.021	T	0.50816	-0.8783	10	0.16420	T	0.52	-2.7301	7.7737	0.29023	0.4749:0.0:0.1871:0.338	.	1451;1464	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1451;1464;1464;1483	ENSP00000351094:H1451R;ENSP00000352208:H1464R;ENSP00000360556:H1464R;ENSP00000360557:H1483R	ENSP00000351094:H1451R	H	-	2	0	MYOF	95087608	0.998000	0.40836	0.996000	0.52242	0.970000	0.65996	0.524000	0.22940	-0.106000	0.12110	-0.468000	0.05107	CAT	0	NULL		0.423	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	protein_coding	OTTHUMT00000049423.2	77	255	0	0.00	0	0	T	NM_013451	0	0		95097618	-1	no_errors	ENST00000359263	ensembl	human	known	74_37	missense	86	297	8.51	6.90	8	22	SNP	0.892	C	C	95097618	T	C	95097618	3	2	106	1	0	0	0	0	1	0	0	0	10089	1464	51	3	1854	3	MYOF	10	95097618	Missense_Mutation	SNP	T	TCGA-ZB-A96H-01A-11D-A428-09		95097618	40437129	9	2090											
SLC18A2	6571	genome.wustl.edu	37	chr10	119013570	119013570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggcagtgtttgccttcTccagcagctatgccttcctg	4	14	9	14	1	2	0	0	0	2	0	5	0	3	0	4	1	4	4	4	1	1	4			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr10:119013570T>C	ENST00000298472.5	+	5	678	c.535T>C	c.(535-537)Tcc>Ccc	p.S179P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	179					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)	GTTTGCCTTCTCCAGCAGCTA	0.592																																							0											0													152	134	140					10																	119013570		2203	4300	6503	SO:0001583	missense	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.535T>C	10.37:g.119013570T>C	ENSP00000298472:p.Ser179Pro		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S179P	ENST00000298472.5	37	c.535	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581011	0.86748	.	.	ENSG00000165646	ENST00000298472	D	0.82433	-1.61	5.94	5.94	0.96194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.80183	2.485	0.58432	D	0.999994	D	0.61697	0.99	D	0.67725	0.953	D	0.90311	0.4337	10	0.39692	T	0.17	-28.6824	16.3951	0.83601	0.0:0.0:0.0:1.0	.	179	Q05940	VMAT2_HUMAN	P	179	ENSP00000298472:S179P	ENSP00000298472:S179P	S	+	1	0	SLC18A2	119003560	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.152000	0.71812	2.272000	0.75746	0.460000	0.39030	TCC	0	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.592	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	protein_coding	OTTHUMT00000050563.1	24	92	0	0.00	0	0	T	NM_003054	0	0		119013570	1	no_errors	ENST00000298472	ensembl	human	known	74_37	missense	17	128	10.53	7.25	2	10	SNP	1	C	C	119013570	T	C	119013570	3	2	106	1	0	0	0	0	1	0	0	0	14426	1551	54	4	549	4	SLC18A2	10	119013570	Missense_Mutation	SNP	T	TCGA-ZB-A96H-01A-11D-A428-09	23915952	119013570	16521177	10	2091											
KRAS	3845	genome.wustl.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		0		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	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.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0	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		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	69	180	0	0.00	0	0	C	NM_033360	rs121913529	C->A,G,T		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	74_37	missense	32	133	42.86	43.88	24	104	SNP	1	T	T	25398284	C	T	25398284	3	4	106	1	0	0	0	0	1	0	0	0	8438	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-ZB-A96H-01A-11D-A428-09		25398284	108453611	11	2092											
SEC23A	10484	genome.wustl.edu	37	chr14	39512039	39512039	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtccatgagaagaataCgatctgcaagaatgctactg	14	10	10	7	1	1	3	0	1	1	3	2	5	2	3	1	0	4	2	1	0	6	2			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr14:39512039C>G	ENST00000307712.6	-	17	2454	c.1937G>C	c.(1936-1938)cGt>cCt	p.R646P	SEC23A_ENST00000545328.2_Missense_Mutation_p.R617P|SEC23A_ENST00000536508.1_Missense_Mutation_p.R544P|SEC23A_ENST00000537403.1_Missense_Mutation_p.R444P	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	646					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)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GAGAAGAATACGATCTGCAAG	0.318																																							0											0													102	107	106					14																	39512039		2203	4300	6503	SO:0001583	missense	0			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1937G>C	14.37:g.39512039C>G	ENSP00000306881:p.Arg646Pro		B2R5P4|B3KXI2|Q8NE16	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,superfamily_Znf_Sec23_Sec24	p.R646P	ENST00000307712.6	37	c.1937	CCDS9668.1	14	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882901	0.91740	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.55	5.55	0.83447	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.78855	0.4349	M	0.92507	3.315	0.80722	D	1	D;D;D	0.62365	0.976;0.978;0.991	P;D;D	0.64144	0.872;0.911;0.922	T	0.81929	-0.0708	10	0.49607	T	0.09	-15.3091	19.8764	0.96873	0.0:1.0:0.0:0.0	.	617;544;646	F5H365;F5H6C4;Q15436	.;.;SC23A_HUMAN	P	444;646;544;617	ENSP00000444193:R444P;ENSP00000306881:R646P;ENSP00000437715:R544P;ENSP00000445393:R617P	ENSP00000306881:R646P	R	-	2	0	SEC23A	38581790	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.760000	0.85248	2.768000	0.95171	0.655000	0.94253	CGT	0	pfam_Gelsolin_dom		0.318	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	protein_coding	OTTHUMT00000276728.2	192	217	0	0.00	0	0	C		0	0		39512039	-1	no_errors	ENST00000307712	ensembl	human	known	74_37	missense	109	119	43.52	49.15	84	115	SNP	1	G	G	39512039	C	G	39512039	3	3	106	1	0	0	0	0	1	0	0	0	13991	536	19	5	376	5	SEC23A	14	39512039	Missense_Mutation	SNP	C	TCGA-ZB-A96H-01A-11D-A428-09		39512039	67837501	12	2093											
CD226	10666	genome.wustl.edu	37	chr18	67563024	67563024	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagccccgagtctgagaCtgtgacatcggggatgacga	11	7	14	9	3	1	3	0	3	1	1	2	7	1	4	2	2	1	1	2	2	2	1			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr18:67563024C>G	ENST00000280200.4	-	4	908	c.640G>C	c.(640-642)Gtc>Ctc	p.V214L	CD226_ENST00000577287.1_Missense_Mutation_p.V59L|CD226_ENST00000581982.1_Missense_Mutation_p.V59L|CD226_ENST00000582621.1_Missense_Mutation_p.V214L	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	214	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|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)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GAGTCTGAGACTGTGACATCG	0.542																																					NSCLC(184;838 2130 8673 21498 50749)		0											0													138	128	132					18																	67563024		2203	4300	6503	SO:0001583	missense	0			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.640G>C	18.37:g.67563024C>G	ENSP00000280200:p.Val214Leu		B2R818	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V214L	ENST00000280200.4	37	c.640	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516982	0.27123	.	.	ENSG00000150637	ENST00000280200	T	0.12147	2.71	4.82	1.02	0.19986	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.840471	0.11202	N	0.588723	T	0.06005	0.0156	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.39313	-0.9620	10	0.34782	T	0.22	.	3.7348	0.08507	0.1703:0.5543:0.0:0.2754	.	214	Q15762	CD226_HUMAN	L	214	ENSP00000280200:V214L	ENSP00000280200:V214L	V	-	1	0	CD226	65714004	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.756000	0.04777	0.067000	0.16545	-0.142000	0.14014	GTC	0	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.542	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	protein_coding	OTTHUMT00000256226.3	42	116	0	0.00	0	0	C	NM_006566	0	0		67563024	-1	no_errors	ENST00000280200	ensembl	human	known	74_37	missense	24	98	45.83	38.36	22	61	SNP	0	G	G	67563024	C	G	67563024	3	3	106	1	0	0	0	0	1	0	0	0	2986	565	20	5	386	5	CD226	18	67563024	Missense_Mutation	SNP	C	TCGA-ZB-A96H-01A-11D-A428-09		67563024	10514224	13	2094											
FCGBP	8857	genome.wustl.edu	37	chr19	40366440	40366440	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacgccgccggcacgcgcagGcgcacgaagctgtccccatc	7	4	12	18	7	0	0	0	0	0	0	2	1	1	0	4	2	2	4	4	2	2	1			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr19:40366440G>T	ENST00000221347.6	-	30	13801	c.13794C>A	c.(13792-13794)cgC>cgA	p.R4598R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4598	VWFD 11. {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)			GCACGCGCAGGCGCACGAAGC	0.677																																							0											0													43	49	47					19																	40366440		2202	4297	6499	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13794C>A	19.37:g.40366440G>T			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.R4598	ENST00000221347.6	37	c.13794	CCDS12546.1	19																																																																																			0	pfam_VWF_type-D,smart_VWF_type-D		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	92	132	0	1.49	0	2	G	NM_003890	0	0		40366440	-1	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	132	152	13.16	19.90	20	38	SNP	0.995	T	T	40366440	G	T	40366440	2	4	106	1	0	0	0	0	0	0	0	1	5778	1190	42	5		5	FCGBP	19	40366440	Silent	SNP	G	TCGA-ZB-A96H-01A-11D-A428-09		40366440	18762543	14	2095											
OPRL1	4987	genome.wustl.edu	37	chr20	62730015	62730015	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgccttcctggatgagaacTtcaaggcctgcttccgcaag	9	9	10	13	2	1	1	1	1	0	1	3	3	3	2	4	2	2	2	4	2	3	3			TCGA-ZB-A96H-01A-11D-A428-09	TCGA-ZB-A96H-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	573c0a47-4c4e-4952-b5c7-8d1c1eecfe04	eabeb6bb-4935-4514-8c57-330b48d8634e	g.chr20:62730015T>C	ENST00000349451.3	+	6	1388	c.976T>C	c.(976-978)Ttc>Ctc	p.F326L	OPRL1_ENST00000355631.4_Missense_Mutation_p.F326L|OPRL1_ENST00000336866.2_Missense_Mutation_p.F326L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	326					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GGATGAGAACTTCAAGGCCTG	0.637																																							0											0													99	89	92					20																	62730015		2202	4298	6500	SO:0001583	missense	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.976T>C	20.37:g.62730015T>C	ENSP00000336764:p.Phe326Leu		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	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_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.F326L	ENST00000349451.3	37	c.976	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	T	32	5.148733	0.94603	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.46451	0.87;0.87;0.87	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	M	0.80982	2.52	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.73380	0.98;0.97	T	0.71902	-0.4452	10	0.87932	D	0	.	14.8049	0.69945	0.0:0.0:0.0:1.0	.	321;326	P41146-2;P41146	.;OPRX_HUMAN	L	326	ENSP00000336843:F326L;ENSP00000347848:F326L;ENSP00000336764:F326L	ENSP00000336843:F326L	F	+	1	0	OPRL1	62200459	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.838000	0.86804	1.900000	0.55004	0.409000	0.27619	TTC	0	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	protein_coding	OTTHUMT00000080295.1	21	69	0	0.00	0	0	T	NM_182647	0	0		62730015	1	no_errors	ENST00000336866	ensembl	human	known	74_37	missense	6	52	62.5	40.23	10	35	SNP	1	C	C	62730015	T	C	62730015	3	2	106	1	0	0	0	0	1	0	0	0	10886	1609	56	4	986	4	OPRL1	20	62730015	Missense_Mutation	SNP	T	TCGA-ZB-A96H-01A-11D-A428-09		62730015	295505	15	2096											
LUZP1	7798	genome.wustl.edu	37	chr1	23420652	23420652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctgctttctggaggttttTtgtggcttcctccaactcat	4	18	8	11	0	3	0	1	0	2	0	5	1	5	1	2	3	2	3	2	3	1	5	rs533244242		TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr1:23420652T>C	ENST00000302291.4	-	4	904	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	LUZP1_ENST00000314174.5_Missense_Mutation_p.K35E|LUZP1_ENST00000418342.1_Missense_Mutation_p.K35E|LUZP1_ENST00000374623.3_Missense_Mutation_p.K35E			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	35					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)		TGGAGGTTTTTTGTGGCTTCC	0.527													T|||	1	0.000199681	0	0	5008	,	,		17910	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0													93	95	94					1																	23420652		2203	4300	6503	SO:0001583	missense	0			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.103A>G	1.37:g.23420652T>C	ENSP00000303758:p.Lys35Glu		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	NULL	p.K35E	ENST00000302291.4	37	c.103	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527730	0.44969	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849;ENST00000475164	T;T;T;T;T	0.47177	2.42;2.42;2.42;2.2;0.85	5.88	5.88	0.94601	.	0.000000	0.51477	D	0.000083	T	0.48040	0.1478	M	0.66939	2.045	0.28089	N	0.931869	P;P	0.41848	0.763;0.763	B;B	0.37144	0.242;0.242	T	0.57242	-0.7845	10	0.72032	D	0.01	.	15.4637	0.75381	0.0:0.0:0.0:1.0	.	35;35	Q86V48-2;Q86V48	.;LUZP1_HUMAN	E	35	ENSP00000393460:K35E;ENSP00000363752:K35E;ENSP00000303758:K35E;ENSP00000313705:K35E;ENSP00000428061:K35E	ENSP00000303758:K35E	K	-	1	0	LUZP1	23293239	1.000000	0.71417	0.978000	0.43139	0.975000	0.68041	4.801000	0.62532	2.253000	0.74438	0.454000	0.30748	AAA	0	NULL		0.527	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	protein_coding	OTTHUMT00000008900.3	73	238	0	0.00	0	0	T	NM_033631	rs533244242	T->C		23420652	-1	no_errors	ENST00000302291	ensembl	human	known	74_37	missense	29	147	43.14	31.80	22	69	SNP	0.955	C	C	23420652	T	C	23420652	3	2	107	1	0	0	0	0	1	0	0	0	9086	1850	64	3	3135	3	LUZP1	1	23420652	Missense_Mutation	SNP	T	TCGA-ZB-A96I-01A-11D-A428-09		23420652	225829969	1	2097											
HAO2	51179	genome.wustl.edu	37	chr1	119934843	119934843	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggctctggcccttggagcTaagtgcatttttcttgggag	7	13	13	8	0	2	0	0	0	2	0	2	2	2	2	1	4	2	3	1	4	2	5			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr1:119934843T>C	ENST00000325945.3	+	6	955	c.882T>C	c.(880-882)gcT>gcC	p.A294A	HAO2_ENST00000361035.4_Silent_p.A307A	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	294	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.			LGA -> HED (in Ref. 2; AAF14000). {ECO:0000305}.	fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|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(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CCCTTGGAGCTAAGTGCATTT	0.502																																							0											0													143	133	136					1																	119934843		2203	4300	6503	SO:0001819	synonymous_variant	0			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.882T>C	1.37:g.119934843T>C			Q2TU86|Q5QP00|Q9UJS6	Silent	SNP	pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.A307	ENST00000325945.3	37	c.921	CCDS901.1	1																																																																																			0	pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN		0.502	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO2	protein_coding	OTTHUMT00000034984.1	50	197	0	0.00	0	0	T	NM_001005783	0	0		119934843	1	no_errors	ENST00000361035	ensembl	human	known	74_37	silent	20	148	35.48	31.16	11	67	SNP	0.119	C	C	119934843	T	C	119934843	2	2	107	1	0	0	0	0	0	0	0	1	6952	1509	53	4		4	HAO2	1	119934843	Silent	SNP	T	TCGA-ZB-A96I-01A-11D-A428-09	96514191	119934843	129315778	2	2098											
SH3YL1	26751	genome.wustl.edu	37	chr2	231121	231121	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagaatttcataaagatCttcggcttgagcaggccgcg	12	10	10	9	3	3	3	2	1	1	2	4	3	3	3	1	2	1	2	1	2	4	4			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr2:231121C>A	ENST00000405430.1	-	9	980	c.604G>T	c.(604-606)Gat>Tat	p.D202Y	SH3YL1_ENST00000403657.1_Missense_Mutation_p.D106Y|SH3YL1_ENST00000403712.2_Missense_Mutation_p.D202Y|SH3YL1_ENST00000403658.1_Missense_Mutation_p.D106Y|SH3YL1_ENST00000415006.2_Missense_Mutation_p.D106Y|SH3YL1_ENST00000356150.5_Missense_Mutation_p.D202Y|SH3YL1_ENST00000468321.1_5'UTR			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	202					phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)			large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TCATAAAGATCTTCGGCTTGA	0.353																																							0											0													105	99	101					2																	231121		1867	4091	5958	SO:0001583	missense	0				CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.604G>T	2.37:g.231121C>A	ENSP00000384269:p.Asp202Tyr		A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Missense_Mutation	SNP	pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.D202Y	ENST00000405430.1	37	c.604		2	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050752	0.55218	.	.	ENSG00000035115	ENST00000415006;ENST00000403712;ENST00000403657;ENST00000405430;ENST00000356150;ENST00000403658;ENST00000451005;ENST00000431160	T;T;T;T;T;T;T	0.28666	2.05;2.03;2.03;1.9;1.9;2.03;1.6	4.99	4.99	0.66335	Ysc84 actin-binding domain (1);	0.235219	0.34828	N	0.003648	T	0.48352	0.1495	L	0.48642	1.525	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.983;0.998;0.997	D;P;D;D	0.68943	0.956;0.894;0.961;0.935	T	0.49485	-0.8935	10	0.87932	D	0	-7.794	15.7984	0.78433	0.0:1.0:0.0:0.0	.	106;202;202;106	Q96HL8-4;Q96HL8-2;Q96HL8;Q96HL8-3	.;.;SH3Y1_HUMAN;.	Y	106;202;106;202;202;106;134;158	ENSP00000404143:D106Y;ENSP00000384276:D202Y;ENSP00000385668:D106Y;ENSP00000384269:D202Y;ENSP00000348471:D202Y;ENSP00000383928:D106Y;ENSP00000416312:D134Y	ENSP00000348471:D202Y	D	-	1	0	SH3YL1	221121	1.000000	0.71417	0.935000	0.37517	0.427000	0.31564	3.359000	0.52292	2.310000	0.77875	0.557000	0.71058	GAT	0	pfam_Ysc84_actin-binding		0.353	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SH3YL1	protein_coding	OTTHUMT00000322352.1	126	227	0	0.00	0	0	C	NM_015677	0	0		231121	-1	no_errors	ENST00000356150	ensembl	human	known	74_37	missense	69	195	34.29	24.14	36	63	SNP	0.999	A	A	231121	C	A	231121	3	1	107	1	0	0	0	0	1	0	0	0	14263	913	32	5	440	5	SH3YL1	2	231121	Missense_Mutation	SNP	C	TCGA-ZB-A96I-01A-11D-A428-09		231121	242968252	3	2099											
BUB1	699	genome.wustl.edu	37	chr2	111419226	111419226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctttcaaaggaacaggagGagcaatgctctggctggtgg	10	8	16	7	0	2	0	1	0	1	0	2	3	2	3	0	7	3	4	0	7	3	1			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr2:111419226G>A	ENST00000302759.6	-	10	1268	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	BUB1_ENST00000409311.1_Missense_Mutation_p.P384S|BUB1_ENST00000535254.1_Missense_Mutation_p.P364S	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	384					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)		GGAACAGGAGGAGCAATGCTC	0.507																																							0											0													108	101	103					2																	111419226		2203	4300	6503	SO:0001583	missense	0			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1150C>T	2.37:g.111419226G>A	ENSP00000302530:p.Pro384Ser		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.P384S	ENST00000302759.6	37	c.1150	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	G	9.775	1.173863	0.21704	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.28666	2.34;1.6;2.61	4.98	2.18	0.27775	.	1.131040	0.06249	N	0.691700	T	0.14013	0.0339	N	0.19112	0.55	0.09310	N	1	B;B;P	0.35656	0.257;0.304;0.514	B;B;B	0.24701	0.051;0.033;0.055	T	0.12268	-1.0554	10	0.07175	T	0.84	-0.6958	4.7411	0.13013	0.1908:0.1798:0.6294:0.0	.	364;384;384	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	S	364;384;384;384	ENSP00000441013:P364S;ENSP00000386701:P384S;ENSP00000302530:P384S	ENSP00000302530:P384S	P	-	1	0	BUB1	111135699	0.003000	0.15002	0.002000	0.10522	0.331000	0.28603	0.711000	0.25764	0.790000	0.33803	0.555000	0.69702	CCT	0	NULL		0.507	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	protein_coding	OTTHUMT00000331925.1	53	167	0	0.00	0	0	G	NM_004336	0	0		111419226	-1	no_errors	ENST00000302759	ensembl	human	known	74_37	missense	26	92	23.53	36.11	8	52	SNP	0.001	A	A	111419226	G	A	111419226	3	1	107	1	0	0	0	0	1	0	0	0	1570	1174	41	3	2171	3	BUB1	2	111419226	Missense_Mutation	SNP	G	TCGA-ZB-A96I-01A-11D-A428-09	111188105	111419226	131780147	4	2100											
NISCH	11188	genome.wustl.edu	37	chr3	52524090	52524090	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaggccccccgtcttcaGgttgaaaacgaggagctgag	10	6	14	11	2	2	2	1	2	1	0	2	5	2	4	3	4	2	2	3	4	2	2			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr3:52524090G>T	ENST00000479054.1	+	19	3528		c.e19-1		NISCH_ENST00000345716.4_Splice_Site			Q9Y2I1	NISCH_HUMAN	nischarin						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)	CCCGTCTTCAGGTTGAAAACG	0.607																																							0											0													66	53	58					3																	52524090		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3457-1G>T	3.37:g.52524090G>T			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Splice_Site	SNP	0	e18-1	ENST00000479054.1	37	c.3457-1	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792313	0.50102	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6842	0.91558	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NISCH	52499130	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	8.666000	0.91149	2.432000	0.82394	0.561000	0.74099	.	0	0		0.607	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	protein_coding	OTTHUMT00000351357.1	45	193	0	0.52	0	1	G	NM_007184	0	0	Intron	52524090	1	no_errors	ENST00000345716	ensembl	human	known	74_37	splice_site	11	70	47.62	42.62	10	52	SNP	1	T	T	52524090	G	T	52524090	5	4	107	1	0	0	0	0	0	0	1	0	10432	1014	35	5	3526	5	NISCH	3	52524090	Splice_Site	SNP	G	TCGA-ZB-A96I-01A-11D-A428-09		52524090	145498340	5	2101											
ZNF827	152485	genome.wustl.edu	37	chr4	146791434	146791434	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcagaggctgctttgacTgacacatcccgccttagcac	9	10	9	13	1	1	3	1	2	0	1	2	3	2	3	2	1	2	4	2	1	1	3			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr4:146791434T>G	ENST00000508784.1	-	5	2171	c.1944A>C	c.(1942-1944)tcA>tcC	p.S648S	ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Silent_p.S298S|ZNF827_ENST00000379448.4_Silent_p.S648S			Q17R98	ZN827_HUMAN	zinc finger protein 827	648					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)					CTGCTTTGACTGACACATCCC	0.488																																							0											0													110	98	102					4																	146791434		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1944A>C	4.37:g.146791434T>G			B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S648	ENST00000508784.1	37	c.1944		4																																																																																			0	NULL		0.488	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	protein_coding	OTTHUMT00000364654.2	55	211	0	0.00	0	0	T	NM_178835	0	0		146791434	-1	no_errors	ENST00000508784	ensembl	human	known	74_37	silent	39	199	9.3	25.47	4	68	SNP	0.904	G	G	146791434	T	G	146791434	2	3	107	1	0	0	0	0	0	0	0	1	18177	1567	55	5		5	ZNF827	4	146791434	Silent	SNP	T	TCGA-ZB-A96I-01A-11D-A428-09		146791434	44362842	6	2102											
PIK3R1	5295	genome.wustl.edu	37	chr5	67590497	67590497	+	Frame_Shift_Del	DEL	A	A	-																															acgtgaaggcaatgagaaagAaatacaaaggttggtgtttc																										TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr5:67590497delA	ENST00000521381.1	+	12	2175	c.1559delA	c.(1558-1560)gaafs	p.E520fs	PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.E520fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.E220fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.E250fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.E157fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.E520fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.E520fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	520					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)	AATGAGAAAGAAATACAAAGG	0.353			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																													0		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)											66	68	68					5																	67590497		2203	4300	6503	SO:0001589	frameshift_variant	0			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.1559delA	5.37:g.67590497delA	ENSP00000428056:p.Glu520fs		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Del	DEL	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.I521fs	ENST00000521381.1	37	c.1559	CCDS3993.1	5																																																																																			0	superfamily_Guanylate-bd_C,prints_PI3kinase_P85		0.353	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	protein_coding	OTTHUMT00000254013.2	114	320	0	0.00	0	0	A	NM_181504	0	0		67590497	1	no_errors	ENST00000396611	ensembl	human	known	74_37	frame_shift_del	88	231	19.27	18.37	21	52	DEL	1	0	-	67590497	A	-	67590497	7	5	107	1	0	1	0	1	0	0	0	0	11918	246	9	0	1731	0	PIK3R1	5	67590497	Frame_Shift_Del	DEL	A	TCGA-ZB-A96I-01A-11D-A428-09		67590497	113324763	7	2103											
NSD1	64324	genome.wustl.edu	37	chr5	176637651	176637651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagattttacaaatgatgctCtctctccaaaattcaacctg	13	13	4	11	0	3	2	1	1	2	1	5	2	3	2	2	0	3	1	2	0	5	3			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr5:176637651C>T	ENST00000439151.2	+	5	2296	c.2251C>T	c.(2251-2253)Ctc>Ttc	p.L751F	NSD1_ENST00000347982.4_Missense_Mutation_p.L482F|NSD1_ENST00000354179.4_Missense_Mutation_p.L482F|NSD1_ENST00000361032.4_Missense_Mutation_p.L648F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	751					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)		AAATGATGCTCTCTCTCCAAA	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													0		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													81	82	82					5																	176637651		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	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.2251C>T	5.37:g.176637651C>T	ENSP00000395929:p.Leu751Phe		Q96PD8|Q96RN7	Missense_Mutation	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.L751F	ENST00000439151.2	37	c.2251	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	0.165	-1.077209	0.01903	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95588	-3.66;-3.65;-3.66;-3.75	5.0	-0.979	0.10276	.	0.462707	0.20361	N	0.093854	D	0.86426	0.5930	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18461	0.028;0.005;0.017	B;B;B	0.22386	0.039;0.017;0.01	T	0.74914	-0.3502	9	.	.	.	.	5.3458	0.16008	0.0:0.4691:0.2479:0.2831	.	482;648;751	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	F	482;482;751;482;648	ENSP00000346111:L482F;ENSP00000395929:L751F;ENSP00000343209:L482F;ENSP00000354310:L648F	.	L	+	1	0	NSD1	176570257	0.717000	0.27966	0.000000	0.03702	0.001000	0.01503	0.489000	0.22387	-0.314000	0.08716	-0.744000	0.03518	CTC	0	NULL		0.433	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	protein_coding	OTTHUMT00000253412.2	45	191	0	0.00	0	0	C	NM_172349	0	0		176637651	1	no_errors	ENST00000439151	ensembl	human	known	74_37	missense	33	150	23.26	27.88	10	58	SNP	0.002	T	T	176637651	C	T	176637651	3	4	107	1	0	0	0	0	1	0	0	0	10669	913	32	3	2265	3	NSD1	5	176637651	Missense_Mutation	SNP	C	TCGA-ZB-A96I-01A-11D-A428-09	109047154	176637651	4277609	8	2104											
SP8	221833	genome.wustl.edu	37	chr7	20825175	20825175	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgccgcggccgccgcAgccgccgaggacgagccgcc	4	2	16	19	8	0	0	0	0	0	0	0	3	0	1	7	2	4	3	7	2	0	0	rs564509664	byFrequency	TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr7:20825175A>T	ENST00000361443.4	-	3	444	c.207T>A	c.(205-207)gcT>gcA	p.A69A	SP8_ENST00000418710.2_Silent_p.A87A	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	69	Ala-rich.|Ser-rich.				dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						cggccgccgcagccgccgAGG	0.716																																							0											0													7	8	8					7																	20825175		2175	4255	6430	SO:0001819	synonymous_variant	0				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.207T>A	7.37:g.20825175A>T			Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1	p.A87	ENST00000361443.4	37	c.261	CCDS5372.1	7																																																																																			0	prints_Antifreeze_1		0.716	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP8	protein_coding	OTTHUMT00000326904.2	23	78	0	0.00	0	0	A		0	0		20825175	-1	no_errors	ENST00000418710	ensembl	human	known	74_37	silent	5	31	44.44	48.33	4	29	SNP	0.884	T	T	20825175	A	T	20825175	2	4	107	1	0	0	0	0	0	0	0	1	14970	175	7	5		5	SP8	7	20825175	Silent	SNP	A	TCGA-ZB-A96I-01A-11D-A428-09		20825175	138313488	9	2105											
NRG1	3084	genome.wustl.edu	37	chr8	32621810	32621810	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcttgaggcaacacctgccTtccgcctggctgacagcagg	7	8	12	14	1	1	2	0	2	1	0	2	2	2	2	4	3	3	3	4	3	1	2			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr8:32621810T>G	ENST00000405005.3	+	12	1813	c.1813T>G	c.(1813-1815)Ttc>Gtc	p.F605V	NRG1_ENST00000519301.1_Missense_Mutation_p.F555V|NRG1_ENST00000356819.4_Missense_Mutation_p.F610V|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000338921.4_Missense_Mutation_p.F613V|NRG1_ENST00000287842.3_Missense_Mutation_p.F602V|NRG1_ENST00000287845.5_Missense_Mutation_p.F576V|NRG1_ENST00000539990.1_Missense_Mutation_p.F448V			Q02297	NRG1_HUMAN	neuregulin 1	605					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AACACCTGCCTTCCGCCTGGC	0.527																																							0											0													50	56	54					8																	32621810		2203	4300	6503	SO:0001583	missense	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1813T>G	8.37:g.32621810T>G	ENSP00000384620:p.Phe605Val		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.F613V	ENST00000405005.3	37	c.1837	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297702	0.60086	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.95	5.95	0.96441	Neuregulin 1-related, C-terminal (1);	0.178268	0.50627	D	0.000103	T	0.56001	0.1956	N	0.22421	0.69	0.37259	D	0.906912	P;P;P;B;P;P;P	0.50066	0.858;0.915;0.931;0.152;0.915;0.88;0.915	B;P;P;B;P;P;P	0.52454	0.345;0.477;0.699;0.036;0.574;0.699;0.574	T	0.59085	-0.7520	9	.	.	.	-3.9928	16.4101	0.83708	0.0:0.0:0.0:1.0	.	448;576;610;613;602;605;610	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	V	555;678;613;610;605;576;602;605;448	ENSP00000429582:F555V;ENSP00000429067:F678V;ENSP00000343395:F613V;ENSP00000349275:F610V;ENSP00000287840:F605V;ENSP00000287845:F576V;ENSP00000287842:F602V;ENSP00000384620:F605V;ENSP00000439276:F448V	.	F	+	1	0	NRG1	32741352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.544000	0.53640	2.280000	0.76307	0.460000	0.39030	TTC	0	pfam_Neuregulin_1_C		0.527	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	protein_coding	OTTHUMT00000472504.1	78	118	0	0.00	0	0	T		0	0		32621810	1	no_errors	ENST00000338921	ensembl	human	known	74_37	missense	54	92	28	32.85	21	45	SNP	1	G	G	32621810	T	G	32621810	3	3	107	1	0	0	0	0	1	0	0	0	10647	1609	56	5	3584	5	NRG1	8	32621810	Missense_Mutation	SNP	T	TCGA-ZB-A96I-01A-11D-A428-09		32621810	113742212	10	2106											
PTPRE	5791	genome.wustl.edu	37	chr10	129869096	129869096	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaatgtccggatcatgAaggagaacatgaggacgggc	14	6	14	7	2	1	4	1	3	0	1	2	7	2	6	1	4	1	0	1	4	3	0			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr10:129869096A>T	ENST00000254667.3	+	15	1597	c.1318A>T	c.(1318-1320)Aag>Tag	p.K440*	PTPRE_ENST00000419012.2_Nonsense_Mutation_p.K440*|PTPRE_ENST00000306042.5_Nonsense_Mutation_p.K382*	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	440	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CCGGATCATGAAGGAGAACAT	0.527																																					Colon(52;977 1184 20575 41685)		0											0													82	72	76					10																	129869096		2203	4300	6503	SO:0001587	stop_gained	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1318A>T	10.37:g.129869096A>T	ENSP00000254667:p.Lys440*		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	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.K440*	ENST00000254667.3	37	c.1318	CCDS7657.1	10	.	.	.	.	.	.	.	.	.	.	A	38	6.717669	0.97784	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	14.0255	0.64584	1.0:0.0:0.0:0.0	.	.	.	.	X	440;418;440;382	.	ENSP00000254667:K440X	K	+	1	0	PTPRE	129759086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.072000	0.93986	1.896000	0.54893	0.528000	0.53228	AAG	0	pirsf_Tyr_Pase_rcpt_a/e-type,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.527	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	protein_coding	OTTHUMT00000050990.1	41	173	0	0.00	0	0	A		0	0		129869096	1	no_errors	ENST00000254667	ensembl	human	known	74_37	nonsense	19	107	40.62	36.69	13	62	SNP	1	T	T	129869096	A	T	129869096	4	4	107	1	0	0	0	0	0	1	0	0	12800	247	9	5	1407	5	PTPRE	10	129869096	Nonsense_Mutation	SNP	A	TCGA-ZB-A96I-01A-11D-A428-09		129869096	5665651	11	2107											
SPTY2D1	144108	genome.wustl.edu	37	chr11	18633082	18633082	+	Frame_Shift_Del	DEL	A	A	-																															ttccatgtaacgtaaggcatAatcactttcatctttgtatc																										TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr11:18633082delA	ENST00000336349.5	-	5	2141	c.1906delT	c.(1906-1908)tatfs	p.Y636fs	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	636										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CGTAAGGCATAATCACTTTCA	0.313																																							0											0													186	170	176					11																	18633082		2198	4293	6491	SO:0001589	frameshift_variant	0			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.1906delT	11.37:g.18633082delA	ENSP00000337991:p.Tyr636fs		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Frame_Shift_Del	DEL	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.Y636fs	ENST00000336349.5	37	c.1906	CCDS31441.1	11																																																																																			0	pfam_Chromatin_SPT2,smart_Chromatin_SPT2		0.313	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	protein_coding	OTTHUMT00000395941.1	118	231	0	0.00	0	0	A	NM_194285	0	0		18633082	-1	no_errors	ENST00000336349	ensembl	human	known	74_37	frame_shift_del	18	106	47.06	33.33	16	53	DEL	1	0	-	18633082	A	-	18633082	7	5	107	1	0	1	0	1	0	0	0	0	15125	362	13	0	159	0	SPTY2D1	11	18633082	Frame_Shift_Del	DEL	A	TCGA-ZB-A96I-01A-11D-A428-09		18633082	116373434	12	2108											
SLC22A9	114571	genome.wustl.edu	37	chr11	63137596	63137596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagatccttcagactgtttTtctctcaatctttgctgttg	6	18	6	11	0	4	2	2	0	2	2	6	2	5	2	2	0	1	3	2	0	1	5			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr11:63137596T>C	ENST00000279178.3	+	1	317	c.68T>C	c.(67-69)tTt>tCt	p.F23S	SLC22A9_ENST00000310969.4_Missense_Mutation_p.F23S	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	23					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						CAGACTGTTTTTCTCTCAATC	0.483																																							0											0													162	161	161					11																	63137596		2201	4298	6499	SO:0001583	missense	0			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.68T>C	11.37:g.63137596T>C	ENSP00000279178:p.Phe23Ser		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F23S	ENST00000279178.3	37	c.68	CCDS8043.1	11	.	.	.	.	.	.	.	.	.	.	T	10.80	1.452088	0.26074	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.34667	1.35;1.35	3.48	2.31	0.28768	.	0.121524	0.56097	D	0.000027	T	0.41328	0.1154	M	0.84219	2.685	0.09310	N	1	P	0.45986	0.87	B	0.43194	0.411	T	0.38908	-0.9639	10	0.62326	D	0.03	.	8.2531	0.31739	0.0:0.0:0.2024:0.7976	.	23	Q8IVM8	S22A9_HUMAN	S	23	ENSP00000311527:F23S;ENSP00000279178:F23S	ENSP00000279178:F23S	F	+	2	0	SLC22A9	62894172	0.004000	0.15560	0.011000	0.14972	0.210000	0.24377	0.909000	0.28558	0.555000	0.29079	0.113000	0.15668	TTT	0	NULL		0.483	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	protein_coding	OTTHUMT00000396371.1	26	164	0	0.00	0	0	T	NM_080866	0	0		63137596	1	no_errors	ENST00000279178	ensembl	human	known	74_37	missense	26	127	31.58	28.65	12	51	SNP	0.071	C	C	63137596	T	C	63137596	3	2	107	1	0	0	0	0	1	0	0	0	14461	1841	64	3	70	3	SLC22A9	11	63137596	Missense_Mutation	SNP	T	TCGA-ZB-A96I-01A-11D-A428-09	44504514	63137596	71868920	13	2109											
SIK3	23387	genome.wustl.edu	37	chr11	116747729	116747729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcttattgggatctaacaCcaacatatggcggatcaaat	13	10	9	9	2	2	0	1	0	1	0	2	2	2	2	1	3	2	1	1	3	5	4			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr11:116747729C>G	ENST00000292055.4	-	7	756	c.721G>C	c.(721-723)Gtg>Ctg	p.V241L	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.V299L|SIK3_ENST00000542607.1_Missense_Mutation_p.V241L|SIK3_ENST00000446921.2_Missense_Mutation_p.V299L|SIK3_ENST00000434315.2_Missense_Mutation_p.V140L	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						GGATCTAACACCAACATATGG	0.547																																							0											0													123	102	109					11																	116747729		2201	4296	6497	SO:0001583	missense	0			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.721G>C	11.37:g.116747729C>G	ENSP00000292055:p.Val241Leu		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.V299L	ENST00000292055.4	37	c.895	CCDS8379.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.710740|4.710740	0.89112|0.89112	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	.|T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15	5.45|5.45	5.45|5.45	0.79879|0.79879	.|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	.|0.37304	.|U	.|0.002141	T|T	0.64897|0.64897	0.2640|0.2640	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.53885	.|0.963;0.381;0.963	.|B;B;B	.|0.42087	.|0.375;0.188;0.375	T|T	0.71404|0.71404	-0.4603|-0.4603	5|10	.|0.62326	.|D	.|0.03	.|.	19.2672|19.2672	0.93993|0.93993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|241;140;241	.|A1A5A8;A1A5A9;Q9Y2K2	.|.;.;SIK3_HUMAN	A|L	292;263;201|299;241;241;140	.|ENSP00000364449:V299L;ENSP00000292055:V241L;ENSP00000438108:V241L;ENSP00000415873:V140L	.|ENSP00000292055:V241L	G|V	-|-	2|1	0|0	SIK3|SIK3	116252939|116252939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.731000|5.731000	0.68554|0.68554	2.544000|2.544000	0.85801|0.85801	0.655000|0.655000	0.94253|0.94253	GGT|GTG	0	pfam_Prot_kinase_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	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	protein_coding		35	144	0	0.00	0	0	C	NM_025164	0	0		116747729	-1	no_errors	ENST00000375300	ensembl	human	known	74_37	missense	17	87	45.45	30.95	15	39	SNP	1	G	G	116747729	C	G	116747729	3	3	107	1	0	0	0	0	1	0	0	0	14319	507	18	5	3138	5	SIK3	11	116747729	Missense_Mutation	SNP	C	TCGA-ZB-A96I-01A-11D-A428-09	53610133	116747729	18258787	14	2110											
NEUROD4	58158	genome.wustl.edu	37	chr12	55420928	55420928	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagagtttgggagaatcGtcctttgggagccatctgcc	8	12	12	9	1	2	2	1	0	1	2	4	4	3	3	3	2	2	1	3	2	2	3	rs528788272		TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr12:55420928G>A	ENST00000242994.3	+	2	1083	c.705G>A	c.(703-705)tcG>tcA	p.S235S		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	235					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)			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						TGGGAGAATCGTCCTTTGGGA	0.517																																							0											0													99	100	100					12																	55420928		2203	4300	6503	SO:0001819	synonymous_variant	0			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.705G>A	12.37:g.55420928G>A			B2RAC9	Silent	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.S235	ENST00000242994.3	37	c.705	CCDS8886.1	12																																																																																			0	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD		0.517	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	protein_coding	OTTHUMT00000406104.1	45	276	0	0.36	0	1	G		rs528788272	G->A		55420928	1	no_errors	ENST00000242994	ensembl	human	known	74_37	silent	21	155	25	32.61	7	75	SNP	0.364	A	A	55420928	G	A	55420928	2	1	107	1	0	0	0	0	0	0	0	1	10350	1132	40	1		1	NEUROD4	12	55420928	Silent	SNP	G	TCGA-ZB-A96I-01A-11D-A428-09		55420928	78430967	15	2111											
WIF1	11197	genome.wustl.edu	37	chr12	65462615	65462615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgccttcagaattcataAcaatcacatccacttcaaat	14	13	3	11	0	4	1	4	0	0	1	5	1	5	1	2	0	2	1	2	0	4	5			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr12:65462615A>G	ENST00000286574.4	-	4	841	c.467T>C	c.(466-468)gTt>gCt	p.V156A		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	156	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)		AGAATTCATAACAATCACATC	0.388			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)		0		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0													170	153	159					12																	65462615		2203	4300	6503	SO:0001583	missense	0			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.467T>C	12.37:g.65462615A>G	ENSP00000286574:p.Val156Ala		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.V156A	ENST00000286574.4	37	c.467	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229743	0.79688	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.53640	0.61;0.61	5.51	5.51	0.81932	WIF domain (4);	0.066782	0.64402	D	0.000020	T	0.44350	0.1289	L	0.29908	0.895	0.48830	D	0.999714	P	0.44946	0.846	P	0.46758	0.526	T	0.26258	-1.0108	9	.	.	.	.	15.9238	0.79597	1.0:0.0:0.0:0.0	.	156	Q9Y5W5	WIF1_HUMAN	A	156;94	ENSP00000286574:V156A;ENSP00000442063:V94A	.	V	-	2	0	WIF1	63748882	1.000000	0.71417	0.993000	0.49108	0.884000	0.51177	7.724000	0.84798	2.226000	0.72624	0.533000	0.62120	GTT	0	pfam_WIF,smart_WIF,pfscan_WIF		0.388	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	protein_coding	OTTHUMT00000401258.2	69	275	0	0.00	0	0	A		0	0		65462615	-1	no_errors	ENST00000286574	ensembl	human	known	74_37	missense	38	206	28.3	28.12	15	81	SNP	0.996	G	G	65462615	A	G	65462615	3	3	107	1	0	0	0	0	1	0	0	0	17363	43	2	3	700	3	WIF1	12	65462615	Missense_Mutation	SNP	A	TCGA-ZB-A96I-01A-11D-A428-09	10041687	65462615	68389280	16	2112											
EIF5	1983	genome.wustl.edu	37	chr14	103804757	103804759	+	In_Frame_Del	DEL	CAC	CAC	-																															ctccgtatccagcagtgagaCaccaccaccaccaccaccac																								rs35559775		TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	CAC	CAC	CAC	-	CAC	CAC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr14:103804757_103804759delCAC	ENST00000216554.3	+	7	1209_1211	c.533_535delCAC	c.(532-537)acacca>aca	p.P185del	EIF5_ENST00000392715.2_In_Frame_Del_p.P185del|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000558506.1_In_Frame_Del_p.P185del	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	185					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGCAGTGAGAcaccaccaccacc	0.433																																							0											0																																										SO:0001651	inframe_deletion	0			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.533_535delCAC	14.37:g.103804766_103804768delCAC	ENSP00000216554:p.Pro185del		Q53XB3|Q9H5N2|Q9UG48	In_Frame_Del	DEL	pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain	p.P182in_frame_del	ENST00000216554.3	37	c.533_535	CCDS9980.1	14																																																																																			0	NULL		0.433	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5	protein_coding	OTTHUMT00000415329.2	55	70	0	1.41	0	1	CAC	NM_001969	0	0		103804759	1	no_errors	ENST00000216554	ensembl	human	known	74_37	in_frame_del	34	56	12.82	6.67	5	4	DEL	1.000:0.985:0.984	0	-	103804759	CAC	-	103804757	7	5	107	1	0	1	0	1	0	0	0	0	5040	478	17	0	551	0	EIF5	14	103804757	In_Frame_Del	DEL	CAC	TCGA-ZB-A96I-01A-11D-A428-09		103804757	3544783	17	2113											
MGA	23269	genome.wustl.edu	37	chr15	41991097	41991097	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagttgatgggacaacaGaagaatcttctagtctccag	13	10	10	8	0	3	3	0	1	3	2	4	4	3	4	1	1	2	2	1	1	4	3			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr15:41991097G>T	ENST00000570161.1	+	3	2050	c.2050G>T	c.(2050-2052)Gaa>Taa	p.E684*	MGA_ENST00000219905.7_Nonsense_Mutation_p.E684*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E684*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E684*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E684*			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)	TGGGACAACAGAAGAATCTTC	0.328																																							0											0													30	29	29					15																	41991097		1734	3866	5600	SO:0001587	stop_gained	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2050G>T	15.37:g.41991097G>T	ENSP00000457035:p.Glu684*		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.E684*	ENST00000570161.1	37	c.2050	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.735479	0.98459	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.14	5.14	0.70334	.	2.831950	0.00802	N	0.001429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	9.6886	0.40114	0.0946:0.0:0.9054:0.0	.	.	.	.	X	684	.	ENSP00000219905:E684X	E	+	1	0	MGA	39778389	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.908000	0.63307	2.404000	0.81709	0.561000	0.74099	GAA	0	NULL		0.328	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	58	146	0	0.00	0	0	G	NM_001164273.1	0	0		41991097	1	no_errors	ENST00000219905	ensembl	human	known	74_37	nonsense	35	110	30	30.19	15	48	SNP	0.956	T	T	41991097	G	T	41991097	4	4	107	1	0	0	0	0	0	1	0	0	9540	943	33	5	2060	5	MGA	15	41991097	Nonsense_Mutation	SNP	G	TCGA-ZB-A96I-01A-11D-A428-09		41991097	60540295	18	2114											
PCSK6	5046	genome.wustl.edu	37	chr15	101971525	101971525	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccgaggattgacttacAtaatttggggccaggtcagg	10	11	13	7	1	1	1	1	1	0	0	2	3	2	2	2	5	1	1	2	5	2	5			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr15:101971525A>G	ENST00000348070.1	-	5	653	c.654T>C	c.(652-654)taT>taC	p.Y218Y	PCSK6_ENST00000358417.3_Splice_Site_p.Y218Y|PCSK6_ENST00000398181.2_Splice_Site_p.Y218Y|PCSK6_ENST00000331826.7_Splice_Site_p.Y53Y|PCSK6_ENST00000344273.2_Splice_Site_p.Y218Y|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	219	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTGACTTACATAATTTGGGG	0.468																																							0											0													111	107	108					15																	101971525		1942	4152	6094	SO:0001630	splice_region_variant	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.654+1T>C	15.37:g.101971525A>G			Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,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,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.Y218	ENST00000348070.1	37	c.654		15																																																																																			0	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom		0.468	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	protein_coding		89	240	0	0.00	0	0	A	NM_002570	0	0	Silent	101971525	-1	no_errors	ENST00000348070	ensembl	human	known	74_37	silent	31	163	40.38	28.19	21	64	SNP	0.937	G	G	101971525	A	G	101971525	5	3	107	1	0	0	0	0	0	0	1	0	11604	231	8	3	2807	3	PCSK6	15	101971525	Splice_Site	SNP	A	TCGA-ZB-A96I-01A-11D-A428-09	59980428	101971525	559867	19	2115											
SRRM2	23524	genome.wustl.edu	37	chr16	2815546	2815546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgctcgcagaggttccAggtcatcaccagagcccaag	11	6	11	13	1	2	2	2	0	0	2	4	3	3	2	3	2	3	3	3	2	2	1			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr16:2815546A>G	ENST00000301740.8	+	11	5566	c.5017A>G	c.(5017-5019)Agg>Ggg	p.R1673G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1673	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						CAGAGGTTCCAGGTCATCACC	0.562																																							0											0													97	79	85					16																	2815546		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5017A>G	16.37:g.2815546A>G	ENSP00000301740:p.Arg1673Gly		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R1673G	ENST00000301740.8	37	c.5017	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	A	9.256	1.041870	0.19748	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.38560	1.13	5.47	3.12	0.35913	.	0.000000	0.64402	D	0.000003	T	0.38983	0.1061	N	0.08118	0	0.30055	N	0.811458	D	0.57899	0.981	D	0.69824	0.966	T	0.34800	-0.9814	10	0.36615	T	0.2	-10.704	9.6282	0.39763	0.6589:0.3411:0.0:0.0	.	1673	Q9UQ35	SRRM2_HUMAN	G	1673;1673;925	ENSP00000301740:R1673G	ENSP00000301740:R1673G	R	+	1	2	SRRM2	2755547	0.800000	0.28916	0.999000	0.59377	0.991000	0.79684	1.141000	0.31528	0.324000	0.23333	0.533000	0.62120	AGG	0	NULL		0.562	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	22	194	0	0.51	0	1	A		0	0		2815546	1	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	14	134	21.05	25.97	4	47	SNP	1	G	G	2815546	A	G	2815546	3	3	107	1	0	0	0	0	1	0	0	0	15168	179	7	4	5055	4	SRRM2	16	2815546	Missense_Mutation	SNP	A	TCGA-ZB-A96I-01A-11D-A428-09		2815546	87539207	20	2116											
ZNF431	170959	genome.wustl.edu	37	chr19	21365735	21365735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcaaatgtaaaaaatgtgGcaaatcattttgcatgcttt	14	16	6	5	0	2	0	2	0	0	0	2	0	2	0	0	1	2	4	0	1	5	5	rs537787342		TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr19:21365735G>A	ENST00000311048.7	+	5	773	c.629G>A	c.(628-630)gGc>gAc	p.G210D	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	210					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						AAAAAATGTGGCAAATCATTT	0.294													G|||	1	0.000199681	0	0.0014	5008	,	,		20803	0		0	False		,,,				2504	0						0.9998,0.0001997											0													37	40	39					19																	21365735		2201	4295	6496	SO:0001583	missense	0			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.629G>A	19.37:g.21365735G>A	ENSP00000308578:p.Gly210Asp		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.G210D	ENST00000311048.7	37	c.629	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	0.986	-0.695506	0.03279	.	.	ENSG00000196705	ENST00000311048	T	0.20069	2.1	1.0	-0.552	0.11818	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16428	0.0395	L	0.46819	1.47	0.26001	N	0.982114	B	0.21688	0.059	B	0.23275	0.045	T	0.26121	-1.0112	9	0.48119	T	0.1	.	4.826	0.13416	0.3978:0.0:0.6022:0.0	.	210	Q8TF32	ZN431_HUMAN	D	210	ENSP00000308578:G210D	ENSP00000308578:G210D	G	+	2	0	ZNF431	21157575	0.930000	0.31532	0.101000	0.21167	0.132000	0.20833	1.094000	0.30951	-0.483000	0.06772	-0.483000	0.04790	GGC	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.294	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	protein_coding	OTTHUMT00000463943.1	163	40	0	0.00	0	0	G	XM_086098	rs537787342	G->A		21365735	1	no_errors	ENST00000311048	ensembl	human	known	74_37	missense	82	45	28.7	25.00	33	15	SNP	0.998	A	A	21365735	G	A	21365735	3	1	107	1	0	0	0	0	1	0	0	0	17902	1203	42	3	647	3	ZNF431	19	21365735	Missense_Mutation	SNP	G	TCGA-ZB-A96I-01A-11D-A428-09		21365735	37763248	21	2117											
ZNF676	163223	genome.wustl.edu	37	chr19	22363559	22363559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttcagtaaggcttgaggaCcagctgaaggctttgccaca	10	10	12	9	0	1	2	1	2	0	0	1	3	1	3	2	3	2	5	2	3	2	4			TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr19:22363559C>G	ENST00000397121.2	-	3	1277	c.960G>C	c.(958-960)tgG>tgC	p.W320C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	320					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)				GGCTTGAGGACCAGCTGAAGG	0.433																																							0											0													60	62	61					19																	22363559		2095	4231	6326	SO:0001583	missense	0			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.960G>C	19.37:g.22363559C>G	ENSP00000380310:p.Trp320Cys		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W320C	ENST00000397121.2	37	c.960	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	0.070	-1.204275	0.01568	.	.	ENSG00000196109	ENST00000397121	T	0.36340	1.26	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23410	0.0566	N	0.10707	0.03	0.09310	N	1	D	0.58620	0.983	P	0.56474	0.799	T	0.11251	-1.0595	9	0.44086	T	0.13	.	0.1517	0.00094	0.2482:0.2591:0.2473:0.2454	.	320	Q8N7Q3	ZN676_HUMAN	C	320	ENSP00000380310:W320C	ENSP00000380310:W320C	W	-	3	0	ZNF676	22155399	0.000000	0.05858	0.017000	0.16124	0.017000	0.09413	-5.234000	0.00139	0.192000	0.20272	0.195000	0.17529	TGG	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	protein_coding	OTTHUMT00000464392.1	125	7	0	0.00	0	0	C	NM_001001411	0	0		22363559	-1	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	100	3	15.83	0.00	19	0	SNP	0	G	G	22363559	C	G	22363559	3	3	107	1	0	0	0	0	1	0	0	0	18080	508	18	5	810	5	ZNF676	19	22363559	Missense_Mutation	SNP	C	TCGA-ZB-A96I-01A-11D-A428-09	997824	22363559	36765424	22	2118											
ZNF536	9745	genome.wustl.edu	37	chr19	30935469	30935469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcggcccagggccagggcCccaacggcggtggcgagcag	7	2	18	14	4	0	0	0	0	0	0	1	1	0	0	4	6	2	1	4	6	1	0	rs370088671		TCGA-ZB-A96I-01A-11D-A428-09	TCGA-ZB-A96I-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8ec3bfea-550b-441b-b825-83f72eb716e4	123b5ff7-2ca0-442d-8abf-fb95861c1cc3	g.chr19:30935469C>T	ENST00000355537.3	+	2	1147	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	334					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)					GGGCCAGGGCCCCAACGGCGG	0.657																																							0											0								C	SER/PRO	0,4406		0,0,2203	84	96	92		1000	3.3	1	19		92	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF536	NM_014717.1	74	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	334/1301	30935469	1,13003	2203	4299	6502	SO:0001583	missense	0				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.1000C>T	19.37:g.30935469C>T	ENSP00000347730:p.Pro334Ser		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P334S	ENST00000355537.3	37	c.1000	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	0.383	-0.927467	0.02377	0.0	1.16E-4	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.59	3.27	0.37495	.	0.234314	0.45361	D	0.000363	T	0.02727	0.0082	N	0.08118	0	0.36153	D	0.847607	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.34104	-0.9842	10	0.02654	T	1	-23.3598	2.4971	0.04624	0.0:0.4193:0.3092:0.2715	.	334;334	A7E228;O15090	.;ZN536_HUMAN	S	334	ENSP00000347730:P334S	ENSP00000347730:P334S	P	+	1	0	ZNF536	35627309	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	0.908000	0.28545	1.321000	0.45227	0.491000	0.48974	CCC	0	NULL		0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	26	106	0	0.00	0	0	C	NM_014717	rs370088671	C->T		30935469	1	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	14	66	17.65	28.26	3	26	SNP	1	T	T	30935469	C	T	30935469	3	4	107	1	0	0	0	0	1	0	0	0	17971	623	22	3	1002	3	ZNF536	19	30935469	Missense_Mutation	SNP	C	TCGA-ZB-A96I-01A-11D-A428-09	8571910	30935469	28193514	23	2119											
EPAS1	2034	genome.wustl.edu	37	chr2	46611675	46611675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagccggctgctcgggccctCatttgagtcctacctgctgc	5	10	11	15	2	1	1	1	1	0	0	3	1	2	1	4	2	5	3	4	2	2	2			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr2:46611675C>T	ENST00000263734.3	+	16	2999	c.2489C>T	c.(2488-2490)tCa>tTa	p.S830L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	830	CTAD.				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)			CTCGGGCCCTCATTTGAGTCC	0.537																																							0											0													99	103	101					2																	46611675		2203	4300	6503	SO:0001583	missense	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2489C>T	2.37:g.46611675C>T	ENSP00000263734:p.Ser830Leu		Q86VA2|Q99630	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_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.S830L	ENST00000263734.3	37	c.2489	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.696182	0.96802	.	.	ENSG00000116016	ENST00000263734	T	0.60672	0.17	5.54	5.54	0.83059	.	0.837683	0.10799	N	0.632905	T	0.62196	0.2408	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.68903	-0.5286	10	0.66056	D	0.02	.	19.4917	0.95052	0.0:1.0:0.0:0.0	.	830	Q99814	EPAS1_HUMAN	L	830	ENSP00000263734:S830L	ENSP00000263734:S830L	S	+	2	0	EPAS1	46465179	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.814000	0.86154	2.589000	0.87451	0.655000	0.94253	TCA	0	NULL		0.537	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	protein_coding	OTTHUMT00000250752.2	23	176	0	0.00	0	0	C	NM_001430	0	0		46611675	1	no_errors	ENST00000263734	ensembl	human	known	74_37	missense	15	133	31.82	14.19	7	22	SNP	1	T	T	46611675	C	T	46611675	3	4	108	1	0	0	0	0	1	0	0	0	5150	838	29	3	2551	3	EPAS1	2	46611675	Missense_Mutation	SNP	C	TCGA-ZB-A96K-01A-11D-A428-09		46611675	196587698	1	2120											
REV1	51455	genome.wustl.edu	37	chr2	100020920	100020920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttacctgtgaaaatgctGgaagggctattaaatttatt	14	14	8	5	0	0	1	0	1	0	0	0	2	0	2	1	2	3	2	1	2	9	6			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr2:100020920G>A	ENST00000258428.3	-	18	3260	c.3032C>T	c.(3031-3033)cCa>cTa	p.P1011L	RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.P1010L	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1011					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						TGAAAATGCTGGAAGGGCTAT	0.433								Direct reversal of damage																															0											0													126	127	127					2																	100020920		2203	4300	6503	SO:0001583	missense	0			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.3032C>T	2.37:g.100020920G>A	ENSP00000258428:p.Pro1011Leu		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.P1011L	ENST00000258428.3	37	c.3032	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039410	0.93630	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.55413	0.52;0.54	5.6	5.6	0.85130	.	0.048018	0.85682	D	0.000000	T	0.70369	0.3216	M	0.73598	2.24	0.80722	D	1	D;D	0.69078	0.972;0.997	P;D	0.65773	0.573;0.938	T	0.63497	-0.6624	10	0.13108	T	0.6	.	19.9659	0.97266	0.0:0.0:1.0:0.0	.	1011;1010	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	L	1010;1011	ENSP00000377091:P1010L;ENSP00000258428:P1011L	ENSP00000258428:P1011L	P	-	2	0	REV1	99387352	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.170000	0.77587	2.802000	0.96397	0.650000	0.86243	CCA	0	pirsf_REV1		0.433	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	protein_coding	OTTHUMT00000253123.2	83	295	0	0.00	0	0	G	NM_016316	0	0		100020920	-1	no_errors	ENST00000258428	ensembl	human	known	74_37	missense	62	204	23.46	16.73	19	41	SNP	1	A	A	100020920	G	A	100020920	3	1	108	1	0	0	0	0	1	0	0	0	13239	1348	47	3	747	3	REV1	2	100020920	Missense_Mutation	SNP	G	TCGA-ZB-A96K-01A-11D-A428-09	53409245	100020920	143178453	2	2121											
FAT4	79633	genome.wustl.edu	37	chr4	126370429	126370429	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaaagggtccccgtctcAgagtacttcagtaaaagtca	14	8	9	10	1	3	2	3	0	1	2	5	2	4	2	2	1	1	2	2	1	4	3			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr4:126370429A>T	ENST00000394329.3	+	9	8271	c.8258A>T	c.(8257-8259)cAg>cTg	p.Q2753L	FAT4_ENST00000335110.5_Missense_Mutation_p.Q1051L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2753	Cadherin 26. {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						TCCCCGTCTCAGAGTACTTCA	0.388																																							0											0													75	79	77					4																	126370429		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8258A>T	4.37:g.126370429A>T	ENSP00000377862:p.Gln2753Leu		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.Q2753L	ENST00000394329.3	37	c.8258	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	8.027	0.760972	0.15914	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.00792	5.69;5.69	5.61	0.619	0.17630	Cadherin (4);Cadherin-like (1);	0.000000	0.33092	U	0.005284	T	0.00328	0.0010	N	0.00385	-1.57	0.42316	D	0.992232	B;B;P	0.45348	0.372;0.009;0.856	B;B;P	0.46026	0.163;0.017;0.501	T	0.69394	-0.5157	10	0.07325	T	0.83	.	8.9677	0.35887	0.6396:0.0:0.3604:0.0	.	1051;2753;2753	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	2753;1051	ENSP00000377862:Q2753L;ENSP00000335169:Q1051L	ENSP00000335169:Q1051L	Q	+	2	0	FAT4	126589879	1.000000	0.71417	0.988000	0.46212	0.666000	0.39218	4.404000	0.59735	0.163000	0.19507	0.533000	0.62120	CAG	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	42	266	0	0.00	0	0	A	NM_024582	0	0		126370429	1	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	56	168	12.5	12.95	8	25	SNP	0.996	T	T	126370429	A	T	126370429	3	4	108	1	0	0	0	0	1	0	0	0	5692	188	7	5	8292	5	FAT4	4	126370429	Missense_Mutation	SNP	A	TCGA-ZB-A96K-01A-11D-A428-09		126370429	64783847	3	2122											
SH3PXD2B	285590	genome.wustl.edu	37	chr5	171881342	171881342	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcacctccacgatgctGcgccgcggcggcatggccgc	5	6	12	18	6	1	0	1	0	0	0	2	1	2	0	5	3	2	2	5	3	0	1			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr5:171881342G>T	ENST00000311601.5	-	1	185	c.15C>A	c.(13-15)cgC>cgA	p.R5R	SH3PXD2B_ENST00000519643.1_Silent_p.R5R	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	5	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)			CCACGATGCTGCGCCGCGGCG	0.771																																							0											0													14	12	13					5																	171881342		2180	4270	6450	SO:0001819	synonymous_variant	0			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.15C>A	5.37:g.171881342G>T			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.R5	ENST00000311601.5	37	c.15	CCDS34291.1	5																																																																																			0	superfamily_Phox,smart_Phox,pfscan_Phox		0.771	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	protein_coding	OTTHUMT00000372449.1	48	21	0	0.00	0	0	G	NM_017963	0	0		171881342	-1	no_errors	ENST00000311601	ensembl	human	known	74_37	silent	41	6	8.89	0.00	4	0	SNP	0.993	T	T	171881342	G	T	171881342	2	4	108	1	0	0	0	0	0	0	0	1	14257	1306	46	5		5	SH3PXD2B	5	171881342	Silent	SNP	G	TCGA-ZB-A96K-01A-11D-A428-09		171881342	9033918	4	2123											
GPLD1	2822	genome.wustl.edu	37	chr6	24466943	24466944	+	Frame_Shift_Ins	INS	-	-	T																															acatgaagcttgttagatggINStaaatattagtggaccaaaa																								rs376914429		TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr6:24466943_24466944insT	ENST00000230036.1	-	10	895_896	c.785_786insA	c.(784-786)tacfs	p.Y262fs	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	262					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)	p.M254fs*2(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TTGTTAGATGGTAAATATTAGT	0.401																																							0											1	Deletion - Frameshift(1)	breast(1)																																								SO:0001589	frameshift_variant	0			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.786dupA	6.37:g.24466944_24466944dupT	ENSP00000230036:p.Tyr262fs		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Frame_Shift_Ins	INS	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.Y262fs	ENST00000230036.1	37	c.786_785	CCDS4553.1	6																																																																																			0	NULL		0.401	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	protein_coding	OTTHUMT00000043315.1	72	335	0	0.00	0	0	0	NM_001503	0	0		24466944	-1	no_errors	ENST00000230036	ensembl	human	known	74_37	frame_shift_ins	56	212	21.13	14.17	15	35	INS	0.966:0.968	T	T	24466944	-	T	24466943	7	5	108	1	0	1	1	0	0	0	0	0	6614	1256	44	0	1800	0	GPLD1	6	24466943	Frame_Shift_Ins	INS	-	TCGA-ZB-A96K-01A-11D-A428-09		24466943	146648124	5	2124											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	374	155	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	272	67	22.29	24.72	78	22	SNP	1	A	A	74146970	T	A	74146970	3	1	108	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A96K-01A-11D-A428-09		74146970	84991693	6	2125											
GRID1	2894	genome.wustl.edu	37	chr10	87362204	87362204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgagctgctcagcggcagCggcaggttgctgctgggccc	4	6	17	14	3	1	0	1	0	0	0	1	1	1	0	2	4	6	7	2	4	0	1	rs200390116	byFrequency	TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr10:87362204C>T	ENST00000327946.7	-	16	2941	c.2856G>A	c.(2854-2856)ccG>ccA	p.P952P	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Silent_p.P523P|RP11-93H12.2_ENST00000443311.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	952					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						TCAGCGGCAGCGGCAGGTTGC	0.647										Multiple Myeloma(13;0.14)			C|||	5	0.000998403	0	0	5008	,	,		12676	0.002		0	False		,,,				2504	0.0031						0											0								C		0,4406		0,0,2203	54	56	56		2856	-9.4	0.4	10		56	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRID1	NM_017551.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		952/1010	87362204	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2856G>A	10.37:g.87362204C>T			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.P952	ENST00000327946.7	37	c.2856	CCDS31236.1	10																																																																																			0	NULL		0.647	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	protein_coding	OTTHUMT00000049148.3	31	24	0	0.00	0	0	C	XM_043613	rs200390116	C->T		87362204	-1	no_errors	ENST00000327946	ensembl	human	known	74_37	silent	37	16	15.91	20.00	7	4	SNP	0.361	T	T	87362204	C	T	87362204	2	4	108	1	0	0	0	0	0	0	0	1	6771	755	27	1		1	GRID1	10	87362204	Silent	SNP	C	TCGA-ZB-A96K-01A-11D-A428-09		87362204	48172543	7	2126											
MPP5	64398	genome.wustl.edu	37	chr14	67768124	67768124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtacaaactgttttgaagCcagttcatcataaggaagga	15	10	10	6	0	2	1	2	1	0	0	2	3	2	3	1	3	3	3	1	3	5	5			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr14:67768124C>G	ENST00000261681.4	+	5	1256	c.595C>G	c.(595-597)Cca>Gca	p.P199A	MPP5_ENST00000555925.1_Missense_Mutation_p.P165A	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	199	Interaction with LIN7C. {ECO:0000250}.|L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				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)		TGTTTTGAAGCCAGTTCATCA	0.343																																							0											0													71	69	69					14																	67768124		2203	4296	6499	SO:0001583	missense	0			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.595C>G	14.37:g.67768124C>G	ENSP00000261681:p.Pro199Ala		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.P199A	ENST00000261681.4	37	c.595	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	C	5.434	0.265249	0.10294	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.08370	3.1;3.11	5.77	4.89	0.63831	L27 (2);	0.522536	0.22451	N	0.059899	T	0.04998	0.0134	N	0.16266	0.395	0.35024	D	0.758099	B	0.02656	0.0	B	0.04013	0.001	T	0.22243	-1.0222	10	0.08179	T	0.78	.	10.8599	0.46821	0.0:0.8567:0.0:0.1433	.	199	Q8N3R9	MPP5_HUMAN	A	199;165	ENSP00000261681:P199A;ENSP00000451488:P165A	ENSP00000261681:P199A	P	+	1	0	MPP5	66837877	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	1.298000	0.33412	1.454000	0.47793	0.650000	0.86243	CCA	0	smart_L27,pfscan_L27		0.343	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	protein_coding	OTTHUMT00000412498.1	106	204	0	0.00	0	0	C	NM_022474	0	0		67768124	1	no_errors	ENST00000261681	ensembl	human	known	74_37	missense	72	178	9.88	17.97	8	39	SNP	1	G	G	67768124	C	G	67768124	3	3	108	1	0	0	0	0	1	0	0	0	9737	739	26	5	605	5	MPP5	14	67768124	Missense_Mutation	SNP	C	TCGA-ZB-A96K-01A-11D-A428-09		67768124	39581416	8	2127											
RLTPR	146206	genome.wustl.edu	37	chr16	67691319	67691319	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcacaggatctggcctTggaaccgagcctctgccccc	6	7	9	19	1	3	0	1	0	2	0	3	3	3	2	7	3	3	0	7	3	1	1			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr16:67691319T>A	ENST00000334583.6	+	38	4534	c.4206T>A	c.(4204-4206)ctT>ctA	p.L1402L	RLTPR_ENST00000545661.1_Silent_p.L1339L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1402	Pro-rich.				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)		GATCTGGCCTTGGAACCGAGC	0.682																																							0											0													15	21	19					16																	67691319		2049	4205	6254	SO:0001819	synonymous_variant	0			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.4206T>A	16.37:g.67691319T>A			B8X2Z3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L1402	ENST00000334583.6	37	c.4206	CCDS45513.1	16																																																																																			0	NULL		0.682	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	protein_coding	OTTHUMT00000467858.1	67	73	0	0.00	0	0	T	NM_001013838	0	0		67691319	1	no_errors	ENST00000334583	ensembl	human	known	74_37	silent	78	27	16.13	26.32	15	10	SNP	0.009	A	A	67691319	T	A	67691319	2	1	108	1	0	0	0	0	0	0	0	1	13394	1799	63	5		5	RLTPR	16	67691319	Silent	SNP	T	TCGA-ZB-A96K-01A-11D-A428-09		67691319	22663434	9	2128											
CLEC18B	497190	genome.wustl.edu	37	chr16	74452071	74452071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggacgccaagcccgcGggcagcagctgcatgttcca	11	4	12	14	3	0	0	0	0	0	0	1	1	1	1	3	2	4	5	3	2	2	1	rs62056016		TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr16:74452071G>A	ENST00000339953.5	-	3	463	c.342C>T	c.(340-342)ccC>ccT	p.P114P		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	114	SCP.					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						CCAAGCCCGCGGGCAGCAGCT	0.662																																							0											0													38	45	43					16																	74452071		2101	4209	6310	SO:0001819	synonymous_variant	0			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.342C>T	16.37:g.74452071G>A			B4DF90	Silent	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.P114	ENST00000339953.5	37	c.342	CCDS32484.1	16																																																																																			0	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1		0.662	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	protein_coding	OTTHUMT00000434697.1	29	3	0	0.00	0	0	G	NM_001011880	rs62056016	G->A		74452071	-1	no_errors	ENST00000339953	ensembl	human	known	74_37	silent	22	1	18.52	0.00	5	0	SNP	0	A	A	74452071	G	A	74452071	2	1	108	1	0	0	0	0	0	0	0	1	3503	1103	39	2		2	CLEC18B	16	74452071	Silent	SNP	G	TCGA-ZB-A96K-01A-11D-A428-09	6760752	74452071	15902682	10	2129											
SEPT9	10801	genome.wustl.edu	37	chr17	75398454	75398454	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccatcggcccgtcccggttCgggctcaagagggccgaggt	5	6	16	14	5	1	1	1	0	0	1	4	2	2	1	4	5	0	2	4	5	1	1			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr17:75398454C>T	ENST00000427177.1	+	3	516	c.390C>T	c.(388-390)ttC>ttT	p.F130F	SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000329047.8_Silent_p.F112F|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000591198.1_Silent_p.F111F|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000423034.2_Silent_p.F123F|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000590294.1_Silent_p.F112F|SEPT9_ENST00000585930.1_5'Flank	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	130					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CGTCCCGGTTCGGGCTCAAGA	0.682																																							0											0													12	16	15					17																	75398454		2067	4203	6270	SO:0001819	synonymous_variant	0			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.390C>T	17.37:g.75398454C>T			A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase	p.F130	ENST00000427177.1	37	c.390	CCDS45790.1	17																																																																																			0	NULL		0.682	SEPT9-001	KNOWN	basic|CCDS	protein_coding	SEPT9	protein_coding	OTTHUMT00000436304.2	65	49	0	0.00	0	0	C	NM_006640	0	0		75398454	1	no_errors	ENST00000427177	ensembl	human	known	74_37	silent	46	38	30.3	17.39	20	8	SNP	0.959	T	T	75398454	C	T	75398454	2	4	108	1	0	0	0	0	0	0	0	1	14071	883	31	2		2	SEPT9	17	75398454	Silent	SNP	C	TCGA-ZB-A96K-01A-11D-A428-09		75398454	5796756	11	2130											
KRTAP10-4	386672	genome.wustl.edu	37	chr21	45994463	45994463	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtgtgcctgtctgctgCaagcctgtgtgctgcaagcc	4	12	13	12	0	1	0	0	0	1	0	1	0	1	0	3	0	8	5	3	0	2	0			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr21:45994463C>T	ENST00000400374.3	+	1	858	c.828C>T	c.(826-828)tgC>tgT	p.C276C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	276	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CTGTCTGCTGCAAGCCTGTGT	0.622																																							0											0													100	106	104					21																	45994463		2203	4300	6503	SO:0001819	synonymous_variant	0			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.828C>T	21.37:g.45994463C>T			Q08AS0	Silent	SNP	NULL	p.C276	ENST00000400374.3	37	c.828	CCDS42957.1	21																																																																																			0	NULL		0.622	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-4	protein_coding	OTTHUMT00000128045.1	52	14	0	0.00	0	0	C	NM_198687	0	0		45994463	1	no_errors	ENST00000400374	ensembl	human	known	74_37	silent	44	8	8.33	0.00	4	0	SNP	0.339	T	T	45994463	C	T	45994463	2	4	108	1	0	0	0	0	0	0	0	1	8511	718	25	3		3	KRTAP10-4	21	45994463	Silent	SNP	C	TCGA-ZB-A96K-01A-11D-A428-09		45994463	2135432	12	2131											
FAM47C	442444	genome.wustl.edu	37	chrX	37026799	37026799	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcggccctgttttccAagctctcgccagcacagcca	10	7	9	15	2	1	1	0	0	1	1	3	1	2	1	4	1	4	3	4	1	2	2	rs143938481	byFrequency	TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chrX:37026799A>G	ENST00000358047.3	+	1	368	c.316A>G	c.(316-318)Aag>Gag	p.K106E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	106										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						CCTGTTTTCCAAGCTCTCGCC	0.542													N|||	5	0.0013245	0	0.0029	3775	,	,		12008	0		0.003	False		,,,				2504	0						0											0								G	GLU/LYS	1,3832		0,0,1,1631,570	89	84	86		316	-1	0	X	dbSNP_134	86	6,6722		0,3,3,2425,1869	no	missense	FAM47C	NM_001013736.2	56	0,3,4,4056,2439	GG,GA,G,AA,A		0.0892,0.0261,0.0663	benign	106/1036	37026799	7,10554	2202	4300	6502	SO:0001583	missense	0			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.316A>G	X.37:g.37026799A>G	ENSP00000367913:p.Lys106Glu		Q6ZU46	Missense_Mutation	SNP	NULL	p.K106E	ENST00000358047.3	37	c.316	CCDS35227.1	X	3	0.0018083182640144665	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013227513227513227	a	2.016	-0.425895	0.04701	2.61E-4	8.92E-4	ENSG00000198173	ENST00000358047	T	0.13657	2.57	0.502	-1.0	0.10196	.	.	.	.	.	T	0.13286	0.0322	L	0.53780	1.695	0.09310	N	1	B	0.24483	0.104	B	0.33846	0.171	T	0.41070	-0.9529	9	0.30854	T	0.27	.	4.4174	0.11463	0.4096:0.0:0.5904:0.0	.	106	Q5HY64	FA47C_HUMAN	E	106	ENSP00000367913:K106E	ENSP00000367913:K106E	K	+	1	0	FAM47C	36936720	0.018000	0.18449	0.003000	0.11579	0.005000	0.04900	0.718000	0.25866	-0.493000	0.06678	-0.879000	0.02964	AAG	0	NULL		0.542	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	45	7	0	0.00	0	0	A	NM_001013736	rs143938481	A->G		37026799	1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	48	9	7.69	0.00	4	0	SNP	0.025	G	G	37026799	A	G	37026799	3	3	108	1	0	0	0	0	1	0	0	0	5571	131	5	3	318	3	FAM47C	23	37026799	Missense_Mutation	SNP	A	TCGA-ZB-A96K-01A-11D-A428-09		37026799	118243761	13	2132											
GAGE13	645051	genome.wustl.edu	37	chrX	49189242	49189242	+	Frame_Shift_Del	DEL	T	T	-																															tggcgaggaagatcgacctaTtatcggcctagaccaagacg																										TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chrX:49189242delT	ENST00000381751.1	+	2	109	c.27delT	c.(25-27)tatfs	p.Y10fs		NM_001098412.1	NP_001091882.1	Q4V321	GAG13_HUMAN	G antigen 13	10												Ovarian(276;0.236)					GATCGACCTATTATCGGCCTA	0.458																																							0											0																																										SO:0001589	frameshift_variant	0					Xp11.23	2008-05-13	2007-07-23	2007-07-23	ENSG00000237597	ENSG00000274274			29081	protein-coding gene	gene with protein product		300734	"G antigen 12A"	GAGE12A			Standard	NM_001098412		Approved	OTTHUMG00000024138		Q4V321	OTTHUMG00000024138	ENST00000381751.1:c.27delT	X.37:g.49189242delT	ENSP00000371170:p.Tyr10fs			Frame_Shift_Del	DEL	pfam_GAGE	p.Y10fs	ENST00000381751.1	37	c.27	CCDS48110.1	X																																																																																			0	pfam_GAGE		0.458	GAGE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAGE13	protein_coding	OTTHUMT00000060818.2	10	0	0	0.00	0	0	T		0	0		49189242	1	no_errors	ENST00000381751	ensembl	human	known	74_37	frame_shift_del	9	0	30.77	0.00	4	0	DEL	0.001	0	-	49189242	T	-	49189242	7	5	108	1	0	1	0	1	0	0	0	0	6189	1500	52	0	29	0	GAGE13	23	49189242	Frame_Shift_Del	DEL	T	TCGA-ZB-A96K-01A-11D-A428-09	12162443	49189242	106081318	14	2133											
SLC27A3	11000	genome.wustl.edu	37	chr1	153750309	153750309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagcagcacagggtgaCggtgttccagtacattgggg	8	9	15	9	1	0	1	0	1	0	0	1	1	1	1	2	4	4	4	2	4	1	4	rs151230291		TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr1:153750309C>T	ENST00000368661.3	+	4	1315	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	SLC27A3_ENST00000271857.2_Missense_Mutation_p.T498M|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	417					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)			CACAGGGTGACGGTGTTCCAG	0.607																																							0											0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	82	67	72		1250	3.8	0.6	1	dbSNP_134	72	0,8600		0,0,4300	no	missense	SLC27A3	NM_024330.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	417/731	153750309	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1250C>T	1.37:g.153750309C>T	ENSP00000357650:p.Thr417Met		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T417M	ENST00000368661.3	37	c.1250	CCDS1053.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.98|18.98	3.737055|3.737055	0.69304|0.69304	2.27E-4|2.27E-4	0.0|0.0	ENSG00000143554|ENSG00000143554	ENST00000458027|ENST00000271857;ENST00000368661	.|T;T	.|0.19394	.|2.15;2.15	4.77|4.77	3.83|3.83	0.44106|0.44106	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53530|0.53530	0.1802|0.1802	H|H	0.98333|0.98333	4.205|4.205	0.35587|0.35587	D|D	0.80673|0.80673	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.73855|0.73855	-0.3851|-0.3851	5|10	.|0.87932	.|D	.|0	-9.9576|-9.9576	12.4991|12.4991	0.55946|0.55946	0.0:0.8302:0.1698:0.0|0.0:0.8302:0.1698:0.0	.|.	.|417	.|Q5K4L6	.|S27A3_HUMAN	W|M	122|498;417	.|ENSP00000271857:T498M;ENSP00000357650:T417M	.|ENSP00000271857:T498M	R|T	+|+	1|2	2|0	SLC27A3|SLC27A3	152016933|152016933	1.000000|1.000000	0.71417|0.71417	0.638000|0.638000	0.29380|0.29380	0.697000|0.697000	0.40408|0.40408	7.451000|7.451000	0.80668|0.80668	1.183000|1.183000	0.42943|0.42943	0.313000|0.313000	0.20887|0.20887	CGG|ACG	0	pfam_AMP-dep_Synth/Lig		0.607	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	protein_coding		45	93	0	0.00	0	0	C	NM_024330	rs151230291	C->T		153750309	1	no_errors	ENST00000368661	ensembl	human	known	74_37	missense	23	70	34.29	38.05	12	43	SNP	0.996	T	T	153750309	C	T	153750309	3	4	109	1	0	0	0	0	1	0	0	0	14527	536	19	1	1264	1	SLC27A3	1	153750309	Missense_Mutation	SNP	C	TCGA-ZB-A96L-01A-11D-A428-09		153750309	95500312	1	2134											
TPM3	7170	genome.wustl.edu	37	chr1	154143134	154143134	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcagctcacctccttgagTttatcagtaagaatcttgat	10	14	6	11	0	4	3	3	2	1	1	5	3	5	3	3	0	1	3	3	0	3	5	rs1051209		TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr1:154143134T>G	ENST00000368530.2	-	7	888	c.696A>C	c.(694-696)aaA>aaC	p.K232N	TPM3_ENST00000368533.3_Missense_Mutation_p.K195N|TPM3_ENST00000341485.5_Missense_Mutation_p.K179N|TPM3_ENST00000330188.9_Missense_Mutation_p.K195N|TPM3_ENST00000323144.7_Missense_Mutation_p.K195N|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000271850.7_Missense_Mutation_p.K232N|TPM3_ENST00000302206.5_Missense_Mutation_p.K105N|TPM3_ENST00000341372.3_Missense_Mutation_p.K170N|TPM3_ENST00000328159.4_Missense_Mutation_p.K195N|TPM3_ENST00000368531.2_Missense_Mutation_p.K195N	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	232					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCTCCTTGAGTTTATCAGTAA	0.343			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"																																		0		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"E, L"	0													153	162	159					1																	154143134		2203	4300	6503	SO:0001583	missense	0			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"Tropomyosins"	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.696A>C	1.37:g.154143134T>G	ENSP00000357516:p.Lys232Asn		D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.K232N	ENST00000368530.2	37	c.696	CCDS41403.1	1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196704	0.58126	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	D;D;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;-4.53;-4.53	5.13	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.98163	0.9393	M	0.85462	2.755	0.44221	D	0.997056	P;B;D;B;B;P;B;P	0.76494	0.829;0.164;0.999;0.049;0.078;0.533;0.167;0.659	P;P;D;B;P;P;P;B	0.97110	0.869;0.708;1.0;0.185;0.487;0.717;0.686;0.284	D	0.98175	1.0454	10	0.54805	T	0.06	-3.4579	7.993	0.30252	0.0:0.1559:0.0:0.8441	.	129;195;231;195;195;195;195;180	B4DQ80;Q5VU58;P06753;P06753-3;P06753-2;Q5VU72;Q5VU66;Q5VU64	.;.;TPM3_HUMAN;.;.;.;.;.	N	195;179;195;171;195;232;105;195;195;232	ENSP00000357521:K195N;ENSP00000341653:K179N;ENSP00000339035:K195N;ENSP00000339378:K171N;ENSP00000357520:K195N;ENSP00000271850:K232N;ENSP00000307712:K105N;ENSP00000357517:K195N;ENSP00000357518:K195N;ENSP00000357516:K232N	ENSP00000271850:K232N	K	-	3	2	TPM3	152409758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.206000	0.42779	2.056000	0.61249	0.460000	0.39030	AAA	0	pfam_Tropomyosin,prints_Tropomyosin		0.343	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM3	protein_coding	OTTHUMT00000087271.2	122	268	0	0.00	0	0	T	NM_152263	0	0		154143134	-1	no_errors	ENST00000368530	ensembl	human	known	74_37	missense	53	158	36.9	41.26	31	111	SNP	1	G	G	154143134	T	G	154143134	3	3	109	1	0	0	0	0	1	0	0	0	16404	1722	60	5	348	5	TPM3	1	154143134	Missense_Mutation	SNP	T	TCGA-ZB-A96L-01A-11D-A428-09	392825	154143134	95107487	2	2135											
CCDC148	130940	genome.wustl.edu	37	chr2	159312934	159312934	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgcaaactcacctggagaAgcagaagctgcacacatgtc	13	6	11	11	0	1	2	1	0	0	2	2	3	1	2	1	2	5	4	1	2	3	0			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr2:159312934A>C	ENST00000283233.5	-	1	331	c.18T>G	c.(16-18)gcT>gcG	p.A6A	CCDC148_ENST00000409889.1_Silent_p.A6A|CCDC148_ENST00000491563.1_5'UTR|PKP4_ENST00000389759.3_5'Flank|CCDC148_ENST00000536771.1_5'UTR|PKP4_ENST00000389757.3_5'Flank	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	6								p.A6A(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACCTGGAGAAGCAGAAGCTG	0.552																																							0											1	Substitution - coding silent(1)	kidney(1)											140	102	115					2																	159312934		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.18T>G	2.37:g.159312934A>C			F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Silent	SNP	NULL	p.A6	ENST00000283233.5	37	c.18	CCDS33304.1	2																																																																																			0	NULL		0.552	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	protein_coding	OTTHUMT00000333270.1	42	116	0	0.00	0	0	A	NM_138803	0	0		159312934	-1	no_errors	ENST00000283233	ensembl	human	known	74_37	silent	19	97	26.92	34.90	7	52	SNP	0.196	C	C	159312934	A	C	159312934	2	2	109	1	0	0	0	0	0	0	0	1	2782	59	3	5		5	CCDC148	2	159312934	Silent	SNP	A	TCGA-ZB-A96L-01A-11D-A428-09		159312934	83886439	3	2136											
TTN	7273	genome.wustl.edu	37	chr2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatatcgttcatactcccGctcctcgtattcttcatatt	7	18	3	13	3	4	0	3	0	1	0	8	0	6	0	2	0	1	3	2	0	4	9	rs372118864		TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr2:179547466G>A	ENST00000591111.1	-	133	32325	c.32101C>T	c.(32101-32103)Cgg>Tgg	p.R10701W	TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN_ENST00000589042.1_Missense_Mutation_p.R11018W|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			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)	p.R9774W(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)			TCATACTCCCGCTCCTCGTAT	0.358																																							0											1	Substitution - Missense(1)	lung(1)						G	,,,TRP/ARG	0,3780		0,0,1890	299	282	287		,,,29320	4.6	0	2		287	1,8215		0,1,4107	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,101	0,1,5997	AA,AG,GG		0.0122,0.0,0.0083	,,,benign	,,,9774/33424	179547466	1,11995	1890	4108	5998	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32101C>T	2.37:g.179547466G>A	ENSP00000465570:p.Arg10701Trp		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.R9774W	ENST00000591111.1	37	c.29320		2	.	.	.	.	.	.	.	.	.	.	G	7.966	0.748107	0.15710	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.70516	-0.49;-0.13	5.45	4.55	0.56014	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54615	0.1869	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.48681	-0.9014	9	0.87932	D	0	.	11.0493	0.47878	0.1365:0.0:0.8635:0.0	.	10701;10437	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	W	9774;632	ENSP00000343764:R9774W;ENSP00000401501:R632W	ENSP00000343764:R9774W	R	-	1	2	TTN	179255711	0.009000	0.17119	0.011000	0.14972	0.004000	0.04260	1.371000	0.34250	2.725000	0.93324	0.655000	0.94253	CGG	0	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	69	210	0	0.00	0	0	G	NM_133378	rs372118864	G->A		179547466	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	25	136	37.5	38.84	15	87	SNP	0.002	A	A	179547466	G	A	179547466	3	1	109	1	0	0	0	0	1	0	0	0	16732	1086	38	1	71389	1	TTN	2	179547466	Missense_Mutation	SNP	G	TCGA-ZB-A96L-01A-11D-A428-09	20234532	179547466	63651907	4	2137											
DPPA2	151871	genome.wustl.edu	37	chr3	109031471	109031471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatttgttccatatttgcGtcatctttaactggcaccag	8	16	6	11	1	2	0	1	0	1	0	4	0	4	0	3	1	2	2	3	1	2	6	rs572153453	byFrequency	TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr3:109031471G>A	ENST00000478945.1	-	3	348	c.102C>T	c.(100-102)gaC>gaT	p.D34D		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	34					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						CCATATTTGCGTCATCTTTAA	0.413													G|||	2	0.000399361	8e-04	0	5008	,	,		18068	0		0	False		,,,				2504	0.001						0.9996,0.0003994											0													182	166	171					3																	109031471		2203	4300	6503	SO:0001819	synonymous_variant	0			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.102C>T	3.37:g.109031471G>A			Q8WVF0	Silent	SNP	pfscan_SAP_dom	p.D34	ENST00000478945.1	37	c.102	CCDS2956.1	3																																																																																			0	NULL		0.413	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA2	protein_coding	OTTHUMT00000353938.1	120	271	0	0.00	0	0	G	NM_138815	rs572153453	G->A		109031471	-1	no_errors	ENST00000478945	ensembl	human	known	74_37	silent	53	129	47.52	58.33	48	182	SNP	0.001	A	A	109031471	G	A	109031471	2	1	109	1	0	0	0	0	0	0	0	1	4734	1136	40	1		1	DPPA2	3	109031471	Silent	SNP	G	TCGA-ZB-A96L-01A-11D-A428-09		109031471	88990959	5	2138											
SLC9A10	285335	genome.wustl.edu	37	chr3	111940004	111940004	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccaaaactttctgcTgcaccaaccaacacctggac	12	9	4	16	0	2	0	1	0	2	0	3	1	2	1	4	1	5	2	4	1	4	2	rs199866303		TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr3:111940004T>C	ENST00000305815.5	-	14	1893	c.1641A>G	c.(1639-1641)gcA>gcG	p.A547A	SLC9C1_ENST00000487372.1_Silent_p.A499A	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	547					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)										AACTTTCTGCTGCACCAACCA	0.388																																							0											0								T		0,4406		0,0,2203	124	125	125		1641	-0.3	1	3		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A10	NM_183061.1		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		547/1178	111940004	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			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.1641A>G	3.37:g.111940004T>C			Q6ZRP4|Q7RTP2	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.A547	ENST00000305815.5	37	c.1641	CCDS33817.1	3																																																																																			0	NULL		0.388	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	protein_coding	OTTHUMT00000354066.1	77	224	0	0.00	0	0	T	NM_183061	rs199866303	T->C,G		111940004	-1	no_errors	ENST00000305815	ensembl	human	known	74_37	silent	31	137	61.25	54.18	49	162	SNP	0.996	C	C	111940004	T	C	111940004	2	2	109	1	0	0	0	0	0	0	0	1	14710	1567	55	4		4	SLC9A10	3	111940004	Silent	SNP	T	TCGA-ZB-A96L-01A-11D-A428-09	2908533	111940004	86082426	6	2139											
ANTXR2	118429	genome.wustl.edu	37	chr4	80993628	80993628	+	Frame_Shift_Del	DEL	C	C	-																															tgctcctgggcgcgcagcagCcccccgggaccgctgagcac																										TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr4:80993628delC	ENST00000307333.7	-	1	89	c.87delG	c.(85-87)gggfs	p.G29fs	ANTXR2_ENST00000404191.1_Intron|ANTXR2_ENST00000346652.6_Frame_Shift_Del_p.G29fs|ANTXR2_ENST00000295465.4_Frame_Shift_Del_p.G29fs|ANTXR2_ENST00000403729.2_Frame_Shift_Del_p.G29fs	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	29					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CGCGCAGCAGCCCCCCGGGAC	0.706									Juvenile Hyaline Fibromatosis																														0											0													21	24	23					4																	80993628		1903	4101	6004	SO:0001589	frameshift_variant	0	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.87delG	4.37:g.80993628delC	ENSP00000306185:p.Gly29fs		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Frame_Shift_Del	DEL	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A	p.L30fs	ENST00000307333.7	37	c.87	CCDS47086.1	4																																																																																			0	pirsf_Anthrax_toxin_rcpt		0.706	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	ANTXR2	protein_coding	OTTHUMT00000324663.1	32	23	0	0.00	0	0	C	NM_058172	0	0		80993628	-1	no_errors	ENST00000307333	ensembl	human	known	74_37	frame_shift_del	24	15	11.11	11.76	3	2	DEL	0.017	0	-	80993628	C	-	80993628	7	5	109	1	0	1	0	1	0	0	0	0	712	726	26	0	1489	0	ANTXR2	4	80993628	Frame_Shift_Del	DEL	C	TCGA-ZB-A96L-01A-11D-A428-09		80993628	110160648	7	2140											
LRRC1	55227	genome.wustl.edu	37	chr6	53767447	53767447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaactaaagaaactgtcaAtcttgaaggtggatcagaat	18	9	9	5	0	3	3	2	1	1	2	3	5	3	4	0	2	2	0	0	2	8	2	rs199592597		TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr6:53767447A>G	ENST00000370888.1	+	9	1085	c.808A>G	c.(808-810)Atc>Gtc	p.I270V		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	270						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAAACTGTCAATCTTGAAGGT	0.343																																							0											0								A	VAL/ILE	1,3665		0,1,1832	116	111	113		808	4.5	0.8	6		113	6,8170		0,6,4082	yes	missense	LRRC1	NM_018214.4	29	0,7,5914	GG,GA,AA		0.0734,0.0273,0.0591	probably-damaging	270/525	53767447	7,11835	1833	4088	5921	SO:0001583	missense	0			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.808A>G	6.37:g.53767447A>G	ENSP00000359925:p.Ile270Val		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I270V	ENST00000370888.1	37	c.808	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	A	21.2	4.116097	0.77323	2.73E-4	7.34E-4	ENSG00000137269	ENST00000370888	T	0.56444	0.46	5.62	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	N	0.05078	-0.115	0.80722	D	1	D	0.53151	0.958	D	0.70716	0.97	T	0.21075	-1.0256	10	0.11794	T	0.64	.	10.6448	0.45613	0.9257:0.0:0.0743:0.0	.	270	Q9BTT6	LRRC1_HUMAN	V	270	ENSP00000359925:I270V	ENSP00000359925:I270V	I	+	1	0	LRRC1	53875406	1.000000	0.71417	0.776000	0.31678	0.996000	0.88848	9.157000	0.94714	0.972000	0.38314	0.528000	0.53228	ATC	0	smart_Leu-rich_rpt_typical-subtyp		0.343	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	protein_coding	OTTHUMT00000040970.2	166	191	0	0.00	0	0	A	NM_025168	rs199592597	A->G		53767447	1	no_errors	ENST00000370888	ensembl	human	known	74_37	missense	80	127	28.57	38.94	32	81	SNP	0.99	G	G	53767447	A	G	53767447	3	3	109	1	0	0	0	0	1	0	0	0	8966	101	4	3	842	3	LRRC1	6	53767447	Missense_Mutation	SNP	A	TCGA-ZB-A96L-01A-11D-A428-09		53767447	117347620	8	2141											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	469	114	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	187	70	42.73	34.58	141	37	SNP	1	A	A	74146970	T	A	74146970	3	1	109	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A96L-01A-11D-A428-09		74146970	84991693	9	2142											
CATSPER1	117144	genome.wustl.edu	37	chr11	65792733	65792733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggacatctgggtgacaCgtgagcggattgtgctggag	7	12	16	6	2	1	2	0	2	1	0	1	5	1	5	0	4	2	1	0	4	0	3			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr11:65792733C>T	ENST00000312106.5	-	1	1255	c.1118G>A	c.(1117-1119)cGt>cAt	p.R373H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	373					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						CTGGGTGACACGTGAGCGGAT	0.532																																							0											0													139	116	124					11																	65792733		2201	4296	6497	SO:0001583	missense	0			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.1118G>A	11.37:g.65792733C>T	ENSP00000309052:p.Arg373His		Q96P76	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.R373H	ENST00000312106.5	37	c.1118	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	C	1.374	-0.585331	0.03827	.	.	ENSG00000175294	ENST00000312106	D	0.97041	-4.22	2.02	-4.04	0.04010	.	.	.	.	.	D	0.89413	0.6708	N	0.17800	0.525	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.80054	-0.1543	9	0.06494	T	0.89	0.4589	5.4123	0.16354	0.0:0.4088:0.3642:0.227	.	373	Q8NEC5	CTSR1_HUMAN	H	373	ENSP00000309052:R373H	ENSP00000309052:R373H	R	-	2	0	CATSPER1	65549309	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.593000	0.00111	-1.848000	0.01172	-0.691000	0.03719	CGT	0	NULL		0.532	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	protein_coding	OTTHUMT00000391055.1	78	188	0	0.00	0	0	C	NM_053054	0	0		65792733	-1	no_errors	ENST00000312106	ensembl	human	known	74_37	missense	22	122	45	36.13	18	69	SNP	0	T	T	65792733	C	T	65792733	3	4	109	1	0	0	0	0	1	0	0	0	2687	536	19	1	1272	1	CATSPER1	11	65792733	Missense_Mutation	SNP	C	TCGA-ZB-A96L-01A-11D-A428-09		65792733	69213783	10	2143											
FGD4	121512	genome.wustl.edu	37	chr12	32735171	32735171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcttctgaacccttgcttGatacgcacatagtgaatgga	12	11	9	9	1	1	3	0	3	1	0	1	4	1	4	1	1	4	3	1	1	5	5			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr12:32735171G>C	ENST00000427716.2	+	4	794	c.370G>C	c.(370-372)Gat>Cat	p.D124H	FGD4_ENST00000472289.1_Missense_Mutation_p.D124H|FGD4_ENST00000534526.2_Missense_Mutation_p.D261H|FGD4_ENST00000531134.1_Missense_Mutation_p.D209H|FGD4_ENST00000546442.1_Missense_Mutation_p.D31H|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000525053.1_Missense_Mutation_p.D236H	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	124	Actin filament-binding. {ECO:0000250}.				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)					ACCCTTGCTTGATACGCACAT	0.468																																							0											0													155	128	137					12																	32735171		2203	4300	6503	SO:0001583	missense	0			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.370G>C	12.37:g.32735171G>C	ENSP00000394487:p.Asp124His		Q6ULS2|Q8TCP6	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.D124H	ENST00000427716.2	37	c.370	CCDS8727.1	12	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202046	0.38905	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000546442;ENST00000525053;ENST00000395742	T;T;T;T;T	0.71222	-0.52;-0.51;-0.54;-0.55;-0.52	4.91	2.97	0.34412	.	0.656368	0.13360	N	0.393753	T	0.63522	0.2518	N	0.19112	0.55	0.09310	N	1	P;B;B;D	0.59767	0.641;0.412;0.412;0.986	B;B;B;P	0.55999	0.188;0.143;0.143;0.789	T	0.53429	-0.8440	10	0.66056	D	0.02	-7.4516	4.4618	0.11669	0.1255:0.1381:0.5956:0.1409	.	236;209;124;124	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	H	261;209;124;124;31;236;105	ENSP00000449273:D261H;ENSP00000431323:D209H;ENSP00000394487:D124H;ENSP00000446695:D31H;ENSP00000433666:D236H	ENSP00000379089:D124H	D	+	1	0	FGD4	32626438	0.001000	0.12720	0.005000	0.12908	0.376000	0.30014	0.558000	0.23469	2.274000	0.75844	0.467000	0.42956	GAT	0	NULL		0.468	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	protein_coding	OTTHUMT00000268017.1	52	143	0	0.00	0	0	G	NM_139241	0	0		32735171	1	no_errors	ENST00000427716	ensembl	human	known	74_37	missense	33	138	15	12.10	6	19	SNP	0	C	C	32735171	G	C	32735171	3	2	109	1	0	0	0	0	1	0	0	0	5835	1290	45	5	376	5	FGD4	12	32735171	Missense_Mutation	SNP	G	TCGA-ZB-A96L-01A-11D-A428-09		32735171	101116724	11	2144											
C12orf51	283450	genome.wustl.edu	37	chr12	112752332	112752332	+	5'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatagatggactgtgtggacGaaagttttcaatgatcccct	12	12	10	7	1	1	2	1	1	0	1	2	5	2	4	2	2	0	1	2	2	4	3			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr12:112752332G>A	ENST00000430131.2	-	0	677				HECTD4_ENST00000550722.1_Silent_p.F94F|HECTD4_ENST00000377560.5_Silent_p.F94F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						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)										CTGTGTGGACGAAAGTTTTCA	0.348																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			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.-469C>T	12.37:g.112752332G>A			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.F94	ENST00000430131.2	37	c.282		12																																																																																			0	NULL		0.348	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		61	308	1.61	0.00	1	0	G	NM_173813	0	0		112752332	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	24	191	25	39.56	8	125	SNP	1	A	A	112752332	G	A	112752332	1	1	109	0	1	0	0	0	0	0	0	0	1696	1049	37	2		2	C12orf51	12	112752332	5'UTR	SNP	G	TCGA-ZB-A96L-01A-11D-A428-09	80017161	112752332	21099563	12	2145											
GPR109A	338442	genome.wustl.edu	37	chr12	123187243	123187243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcccaggggcaggaagaaCtccaggaggaacatggcttc	12	5	14	10	0	0	1	0	0	0	1	2	4	1	4	2	6	3	2	2	6	3	1			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr12:123187243C>G	ENST00000328880.5	-	1	647	c.588G>C	c.(586-588)gaG>gaC	p.E196D	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	196					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)	GCAGGAAGAACTCCAGGAGGA	0.537																																							0											0													89	85	86					12																	123187243		2203	4300	6503	SO:0001583	missense	0			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.588G>C	12.37:g.123187243C>G	ENSP00000375066:p.Glu196Asp		A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E196D	ENST00000328880.5	37	c.588	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660405	0.47572	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.71934	-0.61	5.25	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.332317	0.25109	N	0.033076	T	0.81456	0.4826	M	0.84511	2.7	0.28716	N	0.903278	D	0.69078	0.997	D	0.73380	0.98	T	0.72766	-0.4194	10	0.54805	T	0.06	-30.0957	6.1434	0.20273	0.0:0.621:0.0:0.379	.	196	Q8TDS4	HCAR2_HUMAN	D	196	ENSP00000375066:E196D	ENSP00000375066:E196D	E	-	3	2	HCAR2	121753196	0.002000	0.14202	1.000000	0.80357	0.413000	0.31143	-0.284000	0.08422	0.886000	0.36113	0.655000	0.94253	GAG	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	protein_coding	OTTHUMT00000370202.1	22	71	0	0.00	0	0	C	NM_177551	0	0		123187243	-1	no_errors	ENST00000328880	ensembl	human	known	74_37	missense	6	46	45.45	38.67	5	29	SNP	1	G	G	123187243	C	G	123187243	3	3	109	1	0	0	0	0	1	0	0	0	6625	564	20	5	507	5	GPR109A	12	123187243	Missense_Mutation	SNP	C	TCGA-ZB-A96L-01A-11D-A428-09	10434911	123187243	10664652	13	2146											
NEDD4	4734	genome.wustl.edu	37	chr15	56134159	56134159	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatattcaaacaacccataaTaagggttaaacatttccttt	17	13	3	8	0	1	0	1	0	0	0	2	0	2	0	2	1	3	1	2	1	8	7			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr15:56134159T>C	ENST00000508342.1	-	15	3367	c.3068A>G	c.(3067-3069)tAt>tGt	p.Y1023C	NEDD4_ENST00000506154.1_Missense_Mutation_p.Y1007C|NEDD4_ENST00000338963.2_Missense_Mutation_p.Y951C|NEDD4_ENST00000435532.3_Missense_Mutation_p.Y604C	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1023	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)		CAACCCATAATAAGGGTTAAA	0.398																																							0											0													98	96	97					15																	56134159		2193	4292	6485	SO:0001583	missense	0			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.3068A>G	15.37:g.56134159T>C	ENSP00000424827:p.Tyr1023Cys		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.Y1023C	ENST00000508342.1	37	c.3068		15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.436397|4.436397	0.83885|0.83885	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	6.07|6.07	6.07|6.07	0.98685|0.98685	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80014|0.80014	0.4546|0.4546	M|M	0.93854|0.93854	3.465|3.465	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;0.999;1.0;1.0	D|D	0.85244|0.85244	0.1040|0.1040	5|10	.|0.87932	.|D	.|0	.|.	15.8218|15.8218	0.78654|0.78654	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1007;604;1023;951	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	V|C	614|1023;604;951;1007	.|ENSP00000424827:Y1023C;ENSP00000410613:Y604C;ENSP00000345530:Y951C;ENSP00000422705:Y1007C	.|ENSP00000345530:Y951C	I|Y	-|-	1|2	0|0	NEDD4|NEDD4	53921451|53921451	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.997000|0.997000	0.91878|0.91878	7.980000|7.980000	0.88113|0.88113	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATT|TAT	0	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.398	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	protein_coding	OTTHUMT00000359817.1	86	267	0	0.00	0	0	T	NM_198400	0	0		56134159	-1	no_errors	ENST00000508342	ensembl	human	known	74_37	missense	44	152	35.29	40.47	24	104	SNP	1	C	C	56134159	T	C	56134159	3	2	109	1	0	0	0	0	1	0	0	0	10310	1406	49	3	935	3	NEDD4	15	56134159	Missense_Mutation	SNP	T	TCGA-ZB-A96L-01A-11D-A428-09		56134159	46397233	14	2147											
LIPC	3990	genome.wustl.edu	37	chr15	58834137	58834137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacccgccttgtgggcaagGaggtcgcggctcttctccgg	5	8	14	14	4	2	0	0	0	2	0	4	1	2	1	3	5	0	2	3	5	1	2			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr15:58834137G>A	ENST00000356113.6	+	5	1042	c.427G>A	c.(427-429)Gag>Aag	p.E143K	LIPC_ENST00000299022.5_Missense_Mutation_p.E143K|LIPC_ENST00000433326.2_Intron|LIPC_ENST00000414170.3_Missense_Mutation_p.E143K			P11150	LIPC_HUMAN	lipase, hepatic	143					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)		TGTGGGCAAGGAGGTCGCGGC	0.622																																							0											0													53	40	45					15																	58834137		2191	4292	6483	SO:0001583	missense	0				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.427G>A	15.37:g.58834137G>A	ENSP00000348425:p.Glu143Lys		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.E143K	ENST00000356113.6	37	c.427	CCDS10166.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.328232	0.95733	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022	D;D;D	0.91237	-2.81;-2.81;-2.81	4.53	4.53	0.55603	Lipase, N-terminal (1);	0.111526	0.64402	D	0.000011	D	0.90882	0.7135	L	0.33710	1.025	0.80722	D	1	P	0.49358	0.923	P	0.54544	0.755	D	0.92297	0.5846	10	0.72032	D	0.01	.	17.4373	0.87555	0.0:0.0:1.0:0.0	.	143	P11150	LIPC_HUMAN	K	143	ENSP00000348425:E143K;ENSP00000395569:E143K;ENSP00000299022:E143K	ENSP00000299022:E143K	E	+	1	0	LIPC	56621429	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.616000	0.98359	2.340000	0.79590	0.407000	0.27541	GAG	0	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.622	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	protein_coding	OTTHUMT00000416209.1	54	101	0	0.00	0	0	G		0	0		58834137	1	no_errors	ENST00000299022	ensembl	human	known	74_37	missense	35	65	36.36	36.89	20	38	SNP	1	A	A	58834137	G	A	58834137	3	1	109	1	0	0	0	0	1	0	0	0	8820	1175	41	3	437	3	LIPC	15	58834137	Missense_Mutation	SNP	G	TCGA-ZB-A96L-01A-11D-A428-09	2699978	58834137	43697255	15	2148											
ARMC5	79798	genome.wustl.edu	37	chr16	31473623	31473623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggccactgccccagatgCtgcactgaccttagccctcg	6	8	9	18	1	0	2	0	1	0	1	1	2	0	2	6	1	4	2	6	1	1	1			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr16:31473623C>G	ENST00000563544.1	+	4	1301	c.755C>G	c.(754-756)gCt>gGt	p.A252G	ARMC5_ENST00000268314.4_Missense_Mutation_p.A252G|ARMC5_ENST00000538189.1_Missense_Mutation_p.A284G|ARMC5_ENST00000457010.2_Missense_Mutation_p.A252G|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Missense_Mutation_p.A347G|RP11-452L6.5_ENST00000564629.1_RNA			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	252										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCCCAGATGCTGCACTGACC	0.682																																							0											0													32	38	36					16																	31473623		2158	4261	6419	SO:0001583	missense	0			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.755C>G	16.37:g.31473623C>G	ENSP00000456877:p.Ala252Gly		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.A347G	ENST00000563544.1	37	c.1040	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	c	13.84	2.358419	0.41801	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	4.53	3.57	0.40892	Armadillo-like helical (1);Armadillo-type fold (1);	0.188214	0.47455	D	0.000229	T	0.13457	0.0326	N	0.12182	0.205	0.80722	D	1	B;B;B;P	0.42248	0.058;0.065;0.058;0.774	B;B;B;B	0.39419	0.051;0.069;0.051;0.299	T	0.04991	-1.0913	10	0.33141	T	0.24	-16.6344	9.5679	0.39409	0.0:0.8959:0.0:0.1041	.	284;347;252;252	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	G	347;284;252;252	ENSP00000386125:A347G;ENSP00000443995:A284G;ENSP00000268314:A252G;ENSP00000399561:A252G	ENSP00000268314:A252G	A	+	2	0	ARMC5	31381124	0.267000	0.24122	0.991000	0.47740	0.670000	0.39368	1.400000	0.34577	2.064000	0.61679	0.457000	0.33378	GCT	0	superfamily_ARM-type_fold,smart_Armadillo		0.682	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	protein_coding	OTTHUMT00000432847.1	10	47	0	0.00	0	0	C	NM_024742	0	0		31473623	1	no_errors	ENST00000408912	ensembl	human	known	74_37	missense	6	31	53.85	20.51	7	8	SNP	1	G	G	31473623	C	G	31473623	3	3	109	1	0	0	0	0	1	0	0	0	954	797	28	5	765	5	ARMC5	16	31473623	Missense_Mutation	SNP	C	TCGA-ZB-A96L-01A-11D-A428-09		31473623	58881130	16	2149											
KLHDC4	54758	genome.wustl.edu	37	chr16	87743034	87743034	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgttggagcgtggacacggCccaggtgcggggctgccggc	4	5	20	12	5	0	0	0	0	0	0	0	2	0	2	2	7	3	2	2	7	0	1			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr16:87743034C>T	ENST00000270583.5	-	10	1342	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	KLHDC4_ENST00000353170.5_Silent_p.G371G|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Silent_p.G397G	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	428										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GTGGACACGGCCCAGGTGCGG	0.677																																							0											0													59	62	61					16																	87743034		2198	4299	6497	SO:0001819	synonymous_variant	0			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.1284G>A	16.37:g.87743034C>T			D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1	p.G428	ENST00000270583.5	37	c.1284	CCDS10963.1	16																																																																																			0	NULL		0.677	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLHDC4	protein_coding	OTTHUMT00000269109.2	69	54	0	0.00	0	0	C	NM_017566	0	0		87743034	-1	no_errors	ENST00000270583	ensembl	human	known	74_37	silent	29	42	45.28	31.15	24	19	SNP	1	T	T	87743034	C	T	87743034	2	4	109	1	0	0	0	0	0	0	0	1	8358	726	26	3		3	KLHDC4	16	87743034	Silent	SNP	C	TCGA-ZB-A96L-01A-11D-A428-09	56269411	87743034	2611719	17	2150											
MBTD1	54799	genome.wustl.edu	37	chr17	49302425	49302425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccattgtttttgataatcGggagattagaaggtaaagga	13	12	12	4	1	0	3	0	1	0	2	1	5	0	4	1	3	0	2	1	3	5	6			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr17:49302425G>C	ENST00000586178.1	-	3	441	c.98C>G	c.(97-99)cCg>cGg	p.P33R	MBTD1_ENST00000593259.1_5'Flank|MBTD1_ENST00000415868.1_Missense_Mutation_p.P33R|MBTD1_ENST00000376381.2_Missense_Mutation_p.P33R	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	33					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)			TTTGATAATCGGGAGATTAGA	0.443																																							0											0													160	145	150					17																	49302425		692	1591	2283	SO:0001583	missense	0			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.98C>G	17.37:g.49302425G>C	ENSP00000468304:p.Pro33Arg		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.P33R	ENST00000586178.1	37	c.98	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910570	0.92107	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.24723	1.87;1.84	5.21	5.21	0.72293	.	0.052015	0.85682	D	0.000000	T	0.32010	0.0815	N	0.14661	0.345	0.80722	D	1	D;D	0.61080	0.966;0.989	P;P	0.60473	0.619;0.875	T	0.09662	-1.0664	10	0.31617	T	0.26	.	19.0934	0.93238	0.0:0.0:1.0:0.0	.	33;33	Q05BQ5;Q05BQ5-2	MBTD1_HUMAN;.	R	33	ENSP00000403946:P33R;ENSP00000365561:P33R	ENSP00000365561:P33R	P	-	2	0	MBTD1	46657424	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.772000	0.98984	2.586000	0.87340	0.591000	0.81541	CCG	0	NULL		0.443	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	protein_coding	OTTHUMT00000318124.1	52	301	0	0.00	0	0	G		0	0		49302425	-1	no_errors	ENST00000415868	ensembl	human	known	74_37	missense	16	154	63.64	59.64	28	229	SNP	1	C	C	49302425	G	C	49302425	3	2	109	1	0	0	0	0	1	0	0	0	9360	1116	39	5	1848	5	MBTD1	17	49302425	Missense_Mutation	SNP	G	TCGA-ZB-A96L-01A-11D-A428-09		49302425	31892785	18	2151											
CYP2B6	1555	genome.wustl.edu	37	chr19	41510064	41510064	+	Frame_Shift_Del	DEL	A	A	-																															gtcgacccattcttccggggAtatggtgagagcctcagagg																										TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr19:41510064delA	ENST00000324071.4	+	2	337	c.330delA	c.(328-330)ggafs	p.G110fs	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Frame_Shift_Del_p.G70fs|CYP2B6_ENST00000593831.1_Frame_Shift_Del_p.G34fs	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	110					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|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)	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)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TCTTCCGGGGATATGGTGAGA	0.597																																							0											0													51	54	53					19																	41510064		2203	4300	6503	SO:0001589	frameshift_variant	0			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.330delA	19.37:g.41510064delA	ENSP00000324648:p.Gly110fs		B4DWP3|Q2V565|Q9UK46	Frame_Shift_Del	DEL	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like	p.Y111fs	ENST00000324071.4	37	c.330	CCDS12570.1	19																																																																																			0	pfam_Cyt_P450,superfamily_Cyt_P450		0.597	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2B6	protein_coding	OTTHUMT00000463260.1	38	58	0	0.00	0	0	A	NM_000767	0	0		41510064	1	no_errors	ENST00000324071	ensembl	human	known	74_37	frame_shift_del	19	27	44.12	27.03	15	10	DEL	0	0	-	41510064	A	-	41510064	7	5	109	1	0	1	0	1	0	0	0	0	4164	320	12	0	336	0	CYP2B6	19	41510064	Frame_Shift_Del	DEL	A	TCGA-ZB-A96L-01A-11D-A428-09		41510064	17618919	19	2152											
ZNF814	730051	genome.wustl.edu	37	chr19	58386226	58386226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcctgacctgggcaaaaagtCcttcccactctcactgaaga	11	9	7	14	0	1	3	1	2	1	1	5	3	4	3	4	1	0	1	4	1	3	1			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr19:58386226C>T	ENST00000435989.2	-	3	766	c.532G>A	c.(532-534)Gac>Aac	p.D178N	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	178					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)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GGCAAAAAGTCCTTCCCACTC	0.517																																							0											0													67	53	57					19																	58386226		692	1589	2281	SO:0001583	missense	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.532G>A	19.37:g.58386226C>T	ENSP00000410545:p.Asp178Asn		A6NF35	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.D178N	ENST00000435989.2	37	c.532	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	13.79	2.342131	0.41498	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.10288	2.89	2.56	2.56	0.30785	.	.	.	.	.	T	0.13372	0.0324	L	0.29908	0.895	0.09310	N	1	D	0.63046	0.992	P	0.57911	0.829	T	0.19549	-1.0302	9	0.21014	T	0.42	.	6.7285	0.23371	0.2805:0.7195:0.0:0.0	.	178	B7Z6K7	ZN814_HUMAN	N	178	ENSP00000410545:D178N	ENSP00000365378:D178N	D	-	1	0	ZNF814	63078038	0.000000	0.05858	0.008000	0.14137	0.042000	0.13812	0.096000	0.15147	1.744000	0.51775	0.305000	0.20034	GAC	0	NULL		0.517	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	protein_coding	OTTHUMT00000466976.1	82	147	0	0.00	0	0	C	XM_001725708	0	0		58386226	-1	no_errors	ENST00000435989	ensembl	human	known	74_37	missense	25	73	48.98	39.67	24	48	SNP	0.004	T	T	58386226	C	T	58386226	3	4	109	1	0	0	0	0	1	0	0	0	18173	855	30	3	2039	3	ZNF814	19	58386226	Missense_Mutation	SNP	C	TCGA-ZB-A96L-01A-11D-A428-09	16876162	58386226	742757	20	2153											
PREX1	57580	genome.wustl.edu	37	chr20	47261018	47261018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaggacaggaccgagtctCgattgctgttacactcgctg	8	11	12	10	3	1	0	0	0	1	0	3	4	1	2	1	2	2	4	1	2	2	3			TCGA-ZB-A96L-01A-11D-A428-09	TCGA-ZB-A96L-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f31e3620-3ab8-44b9-a4a2-3155023be5cb	83c2fa61-55e1-43d4-bc0c-34388e42c9c3	g.chr20:47261018C>T	ENST00000371941.3	-	27	3552	c.3530G>A	c.(3529-3531)cGa>cAa	p.R1177Q	PREX1_ENST00000496915.1_5'Flank|PREX1_ENST00000396220.1_Missense_Mutation_p.R1177Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1177					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)			GACCGAGTCTCGATTGCTGTT	0.587																																							0											0													94	75	81					20																	47261018		2203	4300	6503	SO:0001583	missense	0			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.3530G>A	20.37:g.47261018C>T	ENSP00000361009:p.Arg1177Gln		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.R1177Q	ENST00000371941.3	37	c.3530	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.484109	0.96307	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38722	1.12;1.12	5.14	5.14	0.70334	.	0.000000	0.49305	U	0.000154	T	0.63885	0.2549	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	0.61816	-0.6985	10	0.36615	T	0.2	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	1177;474	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	1177	ENSP00000361009:R1177Q;ENSP00000379522:R1177Q	ENSP00000361009:R1177Q	R	-	2	0	PREX1	46694425	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.398000	0.81561	0.655000	0.94253	CGA	0	NULL		0.587	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	protein_coding	OTTHUMT00000079623.1	28	116	0	0.00	0	0	C	NM_020820	0	0		47261018	-1	no_errors	ENST00000371941	ensembl	human	known	74_37	missense	19	64	17.39	39.62	4	42	SNP	1	T	T	47261018	C	T	47261018	3	4	109	1	0	0	0	0	1	0	0	0	12476	884	31	2	1505	2	PREX1	20	47261018	Missense_Mutation	SNP	C	TCGA-ZB-A96L-01A-11D-A428-09		47261018	15764502	21	2154											
GLT25D2	23127	genome.wustl.edu	37	chr1	183913443	183913443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attacaagagtcttctctagCtctcgatcaattacctgcaa	12	13	5	11	1	4	1	1	0	3	1	6	2	4	1	1	0	4	2	1	0	6	4	rs200107460		TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr1:183913443C>T	ENST00000361927.4	-	10	1655	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E	COLGALT2_ENST00000367520.3_Silent_p.E165E|COLGALT2_ENST00000367521.1_Silent_p.E36E|COLGALT2_ENST00000546159.1_Silent_p.E428E	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	428					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TCTTCTCTAGCTCTCGATCAA	0.373																																							0											0													96	91	93					1																	183913443		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1284G>A	1.37:g.183913443C>T			O60327|Q9BZR0	Silent	SNP	pfam_Glyco_trans_25	p.E428	ENST00000361927.4	37	c.1284	CCDS1360.1	1																																																																																			0	pfam_Glyco_trans_25		0.373	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLGALT2	protein_coding	OTTHUMT00000086128.1	36	192	0	0.00	0	0	C	NM_015101	rs200107460	C->T		183913443	-1	no_errors	ENST00000361927	ensembl	human	known	74_37	silent	36	185	21.74	15.91	10	35	SNP	0.95	T	T	183913443	C	T	183913443	2	4	110	1	0	0	0	0	0	0	0	1	6467	796	28	3		3	GLT25D2	1	183913443	Silent	SNP	C	TCGA-ZB-A96M-01A-11D-A428-09		183913443	65337178	1	2155											
PIK3C2B	5287	genome.wustl.edu	37	chr1	204410672	204410672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtttgagggggacagcattgGagttgaagtaggaacagtcc	11	9	16	5	0	0	2	0	2	0	0	1	5	1	5	1	4	2	4	1	4	3	4			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr1:204410672G>A	ENST00000367187.3	-	22	3732	c.3176C>T	c.(3175-3177)tCc>tTc	p.S1059F	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S1031F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1059					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)			GACAGCATTGGAGTTGAAGTA	0.502																																							0											0													110	107	108					1																	204410672		2203	4300	6503	SO:0001583	missense	0			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.3176C>T	1.37:g.204410672G>A	ENSP00000356155:p.Ser1059Phe		O95666|Q5SW99	Missense_Mutation	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.S1059F	ENST00000367187.3	37	c.3176	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912079	0.92178	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.87887	-2.31;-2.31	5.73	5.73	0.89815	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95037	0.8393	M	0.89968	3.075	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.95434	0.8519	10	0.87932	D	0	.	19.505	0.95111	0.0:0.0:1.0:0.0	.	1031;1059	F5GWN5;O00750	.;P3C2B_HUMAN	F	1059;1031	ENSP00000356155:S1059F;ENSP00000400561:S1031F	ENSP00000356155:S1059F	S	-	2	0	PIK3C2B	202677295	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.691000	0.91804	0.650000	0.86243	TCC	0	superfamily_Kinase-like_dom		0.502	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	protein_coding	OTTHUMT00000087965.1	28	132	0	0.00	0	0	G	NM_002646	0	0		204410672	-1	no_errors	ENST00000367187	ensembl	human	known	74_37	missense	30	152	21.05	16.76	8	31	SNP	1	A	A	204410672	G	A	204410672	3	1	110	1	0	0	0	0	1	0	0	0	11910	1174	41	3	1780	3	PIK3C2B	1	204410672	Missense_Mutation	SNP	G	TCGA-ZB-A96M-01A-11D-A428-09	20497229	204410672	44839949	2	2156											
KIDINS220	57498	genome.wustl.edu	37	chr2	8871364	8871364	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagtcatccgccacttcaTtgtgcagagagtgattggga	9	10	14	8	1	2	2	2	1	0	1	3	5	3	4	2	2	1	1	2	2	0	3			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr2:8871364T>C	ENST00000256707.3	-	30	4983	c.4802A>G	c.(4801-4803)aAt>aGt	p.N1601S	KIDINS220_ENST00000418530.1_Missense_Mutation_p.N1502S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.N1582S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.N1582S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1601					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)					CGCCACTTCATTGTGCAGAGA	0.483																																							0											0													84	81	82					2																	8871364		2034	4192	6226	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4802A>G	2.37:g.8871364T>C	ENSP00000256707:p.Asn1601Ser		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.N1601S	ENST00000256707.3	37	c.4802	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651377	0.29336	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.67865	-0.29;-0.28;-0.28;-0.28	5.92	4.77	0.60923	.	0.146965	0.64402	D	0.000008	T	0.53997	0.1831	L	0.27053	0.805	0.29538	N	0.852324	B;B;B	0.25235	0.001;0.001;0.121	B;B;B	0.25140	0.009;0.003;0.058	T	0.56183	-0.8021	10	0.72032	D	0.01	.	11.7631	0.51914	0.0:0.0683:0.0:0.9317	.	1502;1601;455	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	S	1601;1582;1502;1582	ENSP00000256707:N1601S;ENSP00000411849:N1582S;ENSP00000414923:N1502S;ENSP00000418974:N1582S	ENSP00000256707:N1601S	N	-	2	0	KIDINS220	8788815	1.000000	0.71417	0.885000	0.34714	0.333000	0.28666	3.788000	0.55446	1.075000	0.40932	0.533000	0.62120	AAT	0	NULL		0.483	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	protein_coding	OTTHUMT00000323408.2	29	137	0	0.00	0	0	T	NM_020738	0	0		8871364	-1	no_errors	ENST00000256707	ensembl	human	known	74_37	missense	17	163	39.29	16.41	11	32	SNP	1	C	C	8871364	T	C	8871364	3	2	110	1	0	0	0	0	1	0	0	0	8271	1493	52	3	517	3	KIDINS220	2	8871364	Missense_Mutation	SNP	T	TCGA-ZB-A96M-01A-11D-A428-09		8871364	234328009	3	2157											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	315	93	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	331	97	15.56	23.02	61	29	SNP	1	A	A	74146970	T	A	74146970	3	1	110	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A96M-01A-11D-A428-09		74146970	84991693	4	2158											
PCLO	27445	genome.wustl.edu	37	chr7	82791768	82791768	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctctcctcttcgctcagCtggctcaaatccgcctccat	5	12	5	19	2	4	0	2	0	2	0	9	0	7	0	5	1	1	3	5	1	1	1			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr7:82791768C>G	ENST00000333891.9	-	1	478	c.141G>C	c.(139-141)caG>caC	p.Q47H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q47H	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						CTTCGCTCAGCTGGCTCAAAT	0.711																																							0											0													22	26	25					7																	82791768		2054	4181	6235	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.141G>C	7.37:g.82791768C>G	ENSP00000334319:p.Gln47His			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.Q47H	ENST00000333891.9	37	c.141	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216747	0.39201	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.22945	1.93;1.94	4.33	3.45	0.39498	.	.	.	.	.	T	0.22975	0.0555	N	0.24115	0.695	0.80722	D	1	P;P	0.40794	0.729;0.729	B;P	0.45138	0.351;0.471	T	0.05289	-1.0894	9	0.87932	D	0	.	12.0941	0.53744	0.0:0.9161:0.0:0.0839	.	47;47	Q9Y6V0-5;Q9Y6V0-6	.;.	H	47	ENSP00000334319:Q47H;ENSP00000388393:Q47H	ENSP00000334319:Q47H	Q	-	3	2	PCLO	82629704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.121000	0.31283	1.032000	0.39892	0.555000	0.69702	CAG	0	NULL		0.711	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	49	46	0	0.00	0	0	C	NM_014510	0	0		82791768	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	41	38	21.15	17.39	11	8	SNP	1	G	G	82791768	C	G	82791768	3	3	110	1	0	0	0	0	1	0	0	0	11583	796	28	5	15404	5	PCLO	7	82791768	Missense_Mutation	SNP	C	TCGA-ZB-A96M-01A-11D-A428-09	8644798	82791768	76346895	5	2159											
MKI67	4288	genome.wustl.edu	37	chr10	129905997	129905997	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagattcgcagggcattttAgtagttttgccagcagccac	10	11	11	9	1	0	1	0	0	0	1	1	2	0	1	2	1	3	5	2	1	3	6			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr10:129905997A>G	ENST00000368654.3	-	13	4482	c.4107T>C	c.(4105-4107)acT>acC	p.T1369T	MKI67_ENST00000368653.3_Silent_p.T1009T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1369	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)				AGGGCATTTTAGTAGTTTTGC	0.517																																							0											0													116	114	115					10																	129905997		2203	4300	6503	SO:0001819	synonymous_variant	0			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.4107T>C	10.37:g.129905997A>G			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T1369	ENST00000368654.3	37	c.4107	CCDS7659.1	10																																																																																			0	pfam_K167R		0.517	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	46	155	0	0.00	0	0	A	NM_002417	0	0		129905997	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	silent	36	182	14.29	10.34	6	21	SNP	0	G	G	129905997	A	G	129905997	2	3	110	1	0	0	0	0	0	0	0	1	9598	407	15	4		4	MKI67	10	129905997	Silent	SNP	A	TCGA-ZB-A96M-01A-11D-A428-09		129905997	5628750	6	2160											
DAGLA	747	genome.wustl.edu	37	chr11	61488195	61488195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggcctggtctataaccCgcacgaggcctgctccctga	6	9	10	16	3	1	1	0	1	1	0	3	2	2	1	4	3	2	2	4	3	2	3			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr11:61488195C>T	ENST00000257215.5	+	3	256	c.140C>T	c.(139-141)cCg>cTg	p.P47L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	47					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)		GTCTATAACCCGCACGAGGCC	0.627																																							0											0													92	84	87					11																	61488195		2202	4299	6501	SO:0001583	missense	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.140C>T	11.37:g.61488195C>T	ENSP00000257215:p.Pro47Leu		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.P47L	ENST00000257215.5	37	c.140	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863626	0.32884	.	.	ENSG00000134780	ENST00000257215	T	0.22336	1.96	4.43	4.43	0.53597	.	0.060679	0.64402	D	0.000002	T	0.09730	0.0239	N	0.08118	0	0.80722	D	1	P	0.47545	0.897	B	0.35859	0.212	T	0.23833	-1.0177	10	0.11794	T	0.64	-34.4299	17.4538	0.87600	0.0:1.0:0.0:0.0	.	47	Q9Y4D2	DGLA_HUMAN	L	47	ENSP00000257215:P47L	ENSP00000257215:P47L	P	+	2	0	DAGLA	61244771	1.000000	0.71417	0.959000	0.39883	0.925000	0.55904	7.220000	0.78008	2.175000	0.68902	0.561000	0.74099	CCG	0	NULL		0.627	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	protein_coding	OTTHUMT00000398516.1	24	102	0	0.00	0	0	C	NM_006133	0	0		61488195	1	no_errors	ENST00000257215	ensembl	human	known	74_37	missense	19	102	17.39	17.07	4	21	SNP	1	T	T	61488195	C	T	61488195	3	4	110	1	0	0	0	0	1	0	0	0	4226	652	23	2	146	2	DAGLA	11	61488195	Missense_Mutation	SNP	C	TCGA-ZB-A96M-01A-11D-A428-09		61488195	73518321	7	2161											
DYRK2	8445	genome.wustl.edu	37	chr12	68051696	68051696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcgattctgcagtgcttgGatgctttgcacaaaaacaga	12	11	9	9	1	1	1	0	0	1	1	2	3	1	2	0	1	5	4	0	1	2	3			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr12:68051696G>T	ENST00000344096.3	+	3	1422	c.1009G>T	c.(1009-1011)Gat>Tat	p.D337Y	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Missense_Mutation_p.D264Y	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	337	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)		GCAGTGCTTGGATGCTTTGCA	0.428																																							0											0													114	109	111					12																	68051696		2203	4300	6503	SO:0001583	missense	0			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.1009G>T	12.37:g.68051696G>T	ENSP00000342105:p.Asp337Tyr		B2R9V9|Q9BRB5	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.D337Y	ENST00000344096.3	37	c.1009	CCDS8978.1	12	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374969	0.61735	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.66460	-0.21;-0.21	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);	0.088948	0.85682	D	0.000000	T	0.73892	0.3645	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.71097	-0.4691	9	.	.	.	.	19.427	0.94746	0.0:0.0:1.0:0.0	.	337	Q92630	DYRK2_HUMAN	Y	337;264	ENSP00000342105:D337Y;ENSP00000377186:D264Y	.	D	+	1	0	DYRK2	66337963	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.678000	0.91216	0.305000	0.20034	GAT	0	pfam_Prot_kinase_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	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK2	protein_coding	OTTHUMT00000402218.1	41	193	0	0.00	0	0	G		0	0		68051696	1	no_errors	ENST00000344096	ensembl	human	known	74_37	missense	26	158	15.62	20.20	5	40	SNP	1	T	T	68051696	G	T	68051696	3	4	110	1	0	0	0	0	1	0	0	0	4856	1174	41	5	1019	5	DYRK2	12	68051696	Missense_Mutation	SNP	G	TCGA-ZB-A96M-01A-11D-A428-09		68051696	65800199	8	2162											
KDM2B	84678	genome.wustl.edu	37	chr12	121880103	121880103	+	Frame_Shift_Del	DEL	G	G	-																															gagtcaggcggggggctgatGgggggtggccggatcacatg																										TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr12:121880103delG	ENST00000377071.4	-	19	3213	c.3141delC	c.(3139-3141)cccfs	p.P1047fs	KDM2B_ENST00000542973.1_Frame_Shift_Del_p.P415fs|KDM2B_ENST00000377069.4_Frame_Shift_Del_p.P978fs|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1047	Pro-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGGGGCTGATGGGGGGTGGCC	0.687																																							0											0													13	15	15					12																	121880103		1907	4092	5999	SO:0001589	frameshift_variant	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3141delC	12.37:g.121880103delG	ENSP00000366271:p.Pro1047fs		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Frame_Shift_Del	DEL	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.I1048fs	ENST00000377071.4	37	c.3141	CCDS41850.1	12																																																																																			0	NULL		0.687	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	protein_coding	OTTHUMT00000402132.2	26	17	0	0.00	0	0	G	NM_032590	0	0		121880103	-1	no_errors	ENST00000377071	ensembl	human	known	74_37	frame_shift_del	36	17	7.69	10.53	3	2	DEL	1	0	-	121880103	G	-	121880103	7	5	110	1	0	1	0	1	0	0	0	0	8125	1335	47	0	941	0	KDM2B	12	121880103	Frame_Shift_Del	DEL	G	TCGA-ZB-A96M-01A-11D-A428-09	53828407	121880103	11971792	9	2163											
FZD10	11211	genome.wustl.edu	37	chr12	130649201	130649201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactcaccacgggaaatatGagatccctgcccagtcgccc	12	6	8	15	2	1	1	1	1	0	1	3	3	2	2	4	1	2	0	4	1	3	1			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr12:130649201G>A	ENST00000229030.4	+	1	2198	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	572					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)		CGGGAAATATGAGATCCCTGC	0.552																																							0											0													21	25	24					12																	130649201		2195	4294	6489	SO:0001583	missense	0			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.1714G>A	12.37:g.130649201G>A	ENSP00000229030:p.Glu572Lys			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.E572K	ENST00000229030.4	37	c.1714	CCDS9267.1	12	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711650	0.48517	.	.	ENSG00000111432	ENST00000229030	T	0.75938	-0.98	4.5	4.5	0.54988	.	0.300126	0.30177	U	0.010230	T	0.65943	0.2740	L	0.29908	0.895	0.80722	D	1	P	0.46987	0.888	P	0.44561	0.453	T	0.63129	-0.6706	10	0.13470	T	0.59	.	17.1968	0.86894	0.0:0.0:1.0:0.0	.	572	Q9ULW2	FZD10_HUMAN	K	572	ENSP00000229030:E572K	ENSP00000229030:E572K	E	+	1	0	FZD10	129215154	1.000000	0.71417	0.044000	0.18714	0.354000	0.29330	9.108000	0.94275	2.018000	0.59344	0.561000	0.74099	GAG	0	NULL		0.552	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	protein_coding		13	99	0	0.00	0	0	G		0	0		130649201	1	no_errors	ENST00000229030	ensembl	human	known	74_37	missense	21	130	25	10.34	7	15	SNP	1	A	A	130649201	G	A	130649201	3	1	110	1	0	0	0	0	1	0	0	0	6129	1291	45	3	1716	3	FZD10	12	130649201	Missense_Mutation	SNP	G	TCGA-ZB-A96M-01A-11D-A428-09	8769098	130649201	3202694	10	2164											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102505407	102505407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgaacgaggtgaaagggcGcattttggatgacgacacga	12	8	14	7	4	1	3	0	3	1	0	1	7	1	4	0	3	1	1	0	3	2	2			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr14:102505407G>A	ENST00000360184.4	+	60	11440	c.11276G>A	c.(11275-11277)cGc>cAc	p.R3759H	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3759	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						GTGAAAGGGCGCATTTTGGAT	0.468																																							0											0													104	100	101					14																	102505407		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11276G>A	14.37:g.102505407G>A	ENSP00000348965:p.Arg3759His		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.R3759H	ENST00000360184.4	37	c.11276	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.726298	0.96847	.	.	ENSG00000197102	ENST00000360184	T	0.60424	0.19	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	N	0.24115	0.695	0.80722	D	1	D	0.62365	0.991	P	0.58266	0.836	T	0.66744	-0.5846	10	0.87932	D	0	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	3759	Q14204	DYHC1_HUMAN	H	3759	ENSP00000348965:R3759H	ENSP00000348965:R3759H	R	+	2	0	DYNC1H1	101575160	1.000000	0.71417	0.951000	0.38953	0.929000	0.56500	9.869000	0.99810	2.700000	0.92200	0.561000	0.74099	CGC	0	superfamily_P-loop_NTPase		0.468	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	24	147	0	1.34	0	2	G	NM_001376	0	0		102505407	1	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	33	183	13.16	16.44	5	36	SNP	1	A	A	102505407	G	A	102505407	3	1	110	1	0	0	0	0	1	0	0	0	4841	1087	38	1	11514	1	DYNC1H1	14	102505407	Missense_Mutation	SNP	G	TCGA-ZB-A96M-01A-11D-A428-09		102505407	4844133	11	2165											
GRIN2A	2903	genome.wustl.edu	37	chr16	9857896	9857896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcattatgcaaggggttccGgttcattggcagcgtggagt	7	13	14	7	2	2	0	2	0	0	0	3	1	3	1	1	5	2	4	1	5	2	5	rs369878342		TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr16:9857896G>A	ENST00000396573.2	-	14	3814	c.3505C>T	c.(3505-3507)Cgg>Tgg	p.R1169W	GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1169W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1169W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1169W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1169W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R1012W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1169					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)	AAGGGGTTCCGGTTCATTGGC	0.532																																							0											0								G	TRP/ARG,TRP/ARG,TRP/ARG	0,4394		0,0,2197	148	150	149		3505,3505,3505	0.3	0.1	16		149	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GRIN2A	NM_000833.3,NM_001134407.1,NM_001134408.1	101,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1169/1465,1169/1465,1169/1282	9857896	1,12993	2197	4300	6497	SO:0001583	missense	0				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.3505C>T	16.37:g.9857896G>A	ENSP00000379818:p.Arg1169Trp		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.R1169W	ENST00000396573.2	37	c.3505	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	G	8.043	0.764204	0.15914	0.0	1.16E-4	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12361	2.71;2.69;2.7;2.71;2.71	5.31	0.289	0.15723	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.205991	0.48286	D	0.000193	T	0.30916	0.0780	M	0.61703	1.905	0.36118	D	0.845283	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.928;0.975;0.997	T	0.09574	-1.0668	9	.	.	.	.	13.9497	0.64109	0.0:0.0:0.4355:0.5645	.	1012;1169;1169	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	W	1169;1169;1012;1169;1169	ENSP00000379818:R1169W;ENSP00000385872:R1169W;ENSP00000441572:R1012W;ENSP00000332549:R1169W;ENSP00000379820:R1169W	.	R	-	1	2	GRIN2A	9765397	1.000000	0.71417	0.081000	0.20488	0.005000	0.04900	1.733000	0.38156	-0.230000	0.09840	-0.188000	0.12872	CGG	0	pfam_NMDAR2_C		0.532	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	protein_coding	OTTHUMT00000251930.3	48	188	0	0.00	0	0	G		rs369878342	G->A		9857896	-1	no_errors	ENST00000330684	ensembl	human	known	74_37	missense	51	204	7.27	6.82	4	15	SNP	1	A	A	9857896	G	A	9857896	3	1	110	1	0	0	0	0	1	0	0	0	6779	1115	39	2	893	2	GRIN2A	16	9857896	Missense_Mutation	SNP	G	TCGA-ZB-A96M-01A-11D-A428-09		9857896	80496857	12	2166											
ZNF649	65251	genome.wustl.edu	37	chr19	52393919	52393920	+	Frame_Shift_Del	DEL	CA	CA	-																															cactgccctgccaccattgcCacagttaccatattaacagg																										TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	CA	CA	CA	-	CA	CA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr19:52393919_52393920delCA	ENST00000354957.3	-	5	1753_1754	c.1469_1470delTG	c.(1468-1470)gtgfs	p.V490fs	ZNF649_ENST00000600738.1_Frame_Shift_Del_p.V462fs|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000485702.1_5'Flank|ZNF577_ENST00000301399.5_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		ccaccaTTGCCACAGTTACCAT	0.48																																							0											0																																										SO:0001589	frameshift_variant	0			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1469_1470delTG	19.37:g.52393921_52393922delCA	ENSP00000347043:p.Val490fs		A8MYJ5|B2RDC4|Q9H9N2	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.V490fs	ENST00000354957.3	37	c.1470_1469	CCDS12843.1	19																																																																																			0	NULL		0.48	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF649	protein_coding	OTTHUMT00000461097.1	36	116	0	0.85	0	1	CA	NM_023074	0	0		52393920	-1	no_errors	ENST00000354957	ensembl	human	known	74_37	frame_shift_del	41	137	19.61	14.91	10	24	DEL	0.921:0.904	0	-	52393920	CA	-	52393919	7	5	110	1	0	1	0	1	0	0	0	0	18061	581	21	0	51	0	ZNF649	19	52393919	Frame_Shift_Del	DEL	CA	TCGA-ZB-A96M-01A-11D-A428-09		52393919	6735064	13	2167											
ZNF776	284309	genome.wustl.edu	37	chr19	58265229	58265229	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtgattctgggaaatTcactagcaaaagtaatagtt	15	12	9	5	0	2	1	1	1	1	0	2	2	2	2	0	1	2	4	0	1	6	6			TCGA-ZB-A96M-01A-11D-A428-09	TCGA-ZB-A96M-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c266472-a39e-41a5-b4e7-8ff54ffc2ffa	3bcd0489-0be5-459f-b0f6-c1d1431ff6b9	g.chr19:58265229T>G	ENST00000317178.5	+	3	994	c.731T>G	c.(730-732)tTc>tGc	p.F244C		NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	244					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)		TCTGGGAAATTCACTAGCAAA	0.408																																							0											0													66	68	67					19																	58265229		2203	4300	6503	SO:0001583	missense	0			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.731T>G	19.37:g.58265229T>G	ENSP00000321812:p.Phe244Cys		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.F244C	ENST00000317178.5	37	c.731	CCDS12962.2	19	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438374	0.25900	.	.	ENSG00000152443	ENST00000317178	T	0.60548	0.18	1.79	0.624	0.17659	Zinc finger, C2H2 (1);	.	.	.	.	T	0.46249	0.1383	N	0.10733	0.035	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.58820	0.846;0.747	T	0.30880	-0.9963	9	0.59425	D	0.04	.	4.0278	0.09695	0.0:0.3913:0.4224:0.1863	.	244;244	Q68DI1;B4DSC6	ZN776_HUMAN;.	C	244	ENSP00000321812:F244C	ENSP00000321812:F244C	F	+	2	0	ZNF776	62957041	0.794000	0.28838	0.007000	0.13788	0.044000	0.14063	0.912000	0.28597	0.045000	0.15804	0.254000	0.18369	TTC	0	pfscan_Znf_C2H2		0.408	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF776	protein_coding	OTTHUMT00000346722.2	58	187	0	0.53	0	1	T	NM_173632	0	0		58265229	1	no_errors	ENST00000317178	ensembl	human	known	74_37	missense	53	200	8.62	9.50	5	21	SNP	0.017	G	G	58265229	T	G	58265229	3	3	110	1	0	0	0	0	1	0	0	0	18146	1783	62	5	741	5	ZNF776	19	58265229	Missense_Mutation	SNP	T	TCGA-ZB-A96M-01A-11D-A428-09	5871310	58265229	863754	14	2168											
MUC21	394263	genome.wustl.edu	37	chr6	30954863	30954863	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacagccaccaactctgAgtccagtacgacctccagtg	12	6	7	16	1	1	1	0	1	1	0	3	2	3	1	5	0	4	1	5	0	3	1	rs201896109		TCGA-ZB-A96O-01A-11D-A428-09	TCGA-ZB-A96O-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1b0ed47c-7cc6-48e7-b054-e2d6541c0f02	008e6888-064b-4b3f-b265-e22296c972f9	g.chr6:30954863A>G	ENST00000376296.3	+	2	1152	c.911A>G	c.(910-912)gAg>gGg	p.E304G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	304	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						ACCAACTCTGAGTCCAGTACG	0.592																																							0											0													179	171	174					6																	30954863		2203	4300	6503	SO:0001583	missense	0			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.911A>G	6.37:g.30954863A>G	ENSP00000365473:p.Glu304Gly		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	NULL	p.E304G	ENST00000376296.3	37	c.911	CCDS34388.1	6	.	.	.	.	.	.	.	.	.	.	a	9.955	1.221199	0.22457	.	.	ENSG00000204544	ENST00000376296	T	0.01388	4.95	4.34	-8.68	0.00859	.	.	.	.	.	T	0.00271	0.0008	N	0.17082	0.46	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.46843	-0.9162	8	.	.	.	0.4247	3.691	0.08346	0.3484:0.4214:0.1287:0.1016	.	304	Q5SSG8	MUC21_HUMAN	G	304	ENSP00000365473:E304G	.	E	+	2	0	MUC21	31062842	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-7.586000	0.00033	-1.510000	0.01796	0.482000	0.46254	GAG	0	NULL		0.592	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	protein_coding	OTTHUMT00000128579.3	56	0	0	0.00	0	0	A	NM_001010909	rs201896109	A->G		30954863	1	no_errors	ENST00000376296	ensembl	human	known	74_37	missense	34	0	10.53	0.00	4	0	SNP	0	G	G	30954863	A	G	30954863	3	3	111	1	0	0	0	0	1	0	0	0	9977	304	11	4	917	4	MUC21	6	30954863	Missense_Mutation	SNP	A	TCGA-ZB-A96O-01A-11D-A428-09		30954863	140160204	1	2169											
SCN2A	6326	genome.wustl.edu	37	chr2	166188030	166188030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcatggctatggagcaCtatcccatgacggagcagtt	9	11	10	11	1	2	1	1	1	1	0	3	3	3	3	1	3	2	4	1	3	2	4			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr2:166188030C>T	ENST00000375437.2	+	14	2630	c.2340C>T	c.(2338-2340)caC>caT	p.H780H	SCN2A_ENST00000283256.6_Silent_p.H780H|SCN2A_ENST00000357398.3_Silent_p.H780H|SCN2A_ENST00000375427.2_Silent_p.H780H	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	780					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)	CTATGGAGCACTATCCCATGA	0.448																																							0											0													133	113	120					2																	166188030		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2340C>T	2.37:g.166188030C>T			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	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.H780	ENST00000375437.2	37	c.2340	CCDS33314.1	2																																																																																			0	NULL		0.448	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	73	211	0	0.00	0	0	C	NM_021007	0	0		166188030	1	no_errors	ENST00000283256	ensembl	human	known	74_37	silent	34	126	12.82	11.27	5	16	SNP	0.999	T	T	166188030	C	T	166188030	2	4	112	1	0	0	0	0	0	0	0	1	13916	564	20	3		3	SCN2A	2	166188030	Silent	SNP	C	TCGA-ZB-A96Q-01A-11D-A428-09		166188030	77011343	1	2170											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64592729	64592729	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catttcactgctcttagctgGtatccctgtccacaagtgac	8	13	7	13	0	2	1	1	1	1	0	4	1	4	1	2	1	2	3	2	1	3	3			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr3:64592729G>T	ENST00000498707.1	-	23	3723	c.3381C>A	c.(3379-3381)taC>taA	p.Y1127*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Y1099*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1127	TSP type-1 6. {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)		CTCTTAGCTGGTATCCCTGTC	0.418																																							0											0													196	167	177					3																	64592729		2203	4300	6503	SO:0001587	stop_gained	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3381C>A	3.37:g.64592729G>T	ENSP00000418735:p.Tyr1127*		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	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.Y1127*	ENST00000498707.1	37	c.3381	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.673008|5.673008	0.96754|0.96754	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|.	.|.	.|.	5.73|5.73	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.34861|.	0.0912|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17379|.	-1.0371|.	4|.	.|0.02654	.|T	.|1	.|.	12.3576|12.3576	0.55184|0.55184	0.1375:0.0:0.8625:0.0|0.1375:0.0:0.8625:0.0	.|.	.|.	.|.	.|.	N|X	183|1099;1127	.|.	.|ENSP00000295903:Y1099X	T|Y	-|-	2|3	0|2	ADAMTS9|ADAMTS9	64567769|64567769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	2.487000|2.487000	0.45268|0.45268	1.528000|1.528000	0.49103|0.49103	0.655000|0.655000	0.94253|0.94253	ACC|TAC	0	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.418	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	protein_coding	OTTHUMT00000351891.1	59	150	0	0.00	0	0	G		0	0		64592729	-1	no_errors	ENST00000498707	ensembl	human	known	74_37	nonsense	43	133	20.37	12.34	11	19	SNP	1	T	T	64592729	G	T	64592729	4	4	112	1	0	0	0	0	0	1	0	0	273	1256	44	5	2494	5	ADAMTS9	3	64592729	Nonsense_Mutation	SNP	G	TCGA-ZB-A96Q-01A-11D-A428-09		64592729	133429701	2	2171											
FGA	2243	genome.wustl.edu	37	chr4	155506807	155506807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcaaatgtggagtctcCtctgttgtaactcgtgctac	7	15	9	10	1	3	0	1	0	2	0	5	1	3	1	1	1	3	4	1	1	3	4			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr4:155506807C>T	ENST00000302053.3	-	5	1852	c.1774G>A	c.(1774-1776)Gga>Aga	p.G592R	FGA_ENST00000403106.3_Missense_Mutation_p.G592R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	592					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)	GTGGAGTCTCCTCTGTTGTAA	0.453																																					NSCLC(143;340 1922 20892 22370 48145)		0											0													135	130	131					4																	155506807		2203	4300	6503	SO:0001583	missense	0				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.1774G>A	4.37:g.155506807C>T	ENSP00000306361:p.Gly592Arg		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.G592R	ENST00000302053.3	37	c.1774	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843385	0.51057	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.59638	0.25;2.26	5.73	3.96	0.45880	.	4.861610	0.00166	N	0.000009	T	0.71821	0.3385	L	0.61218	1.895	0.09310	N	0.999995	P;P	0.48162	0.906;0.804	P;P	0.55713	0.782;0.661	T	0.50065	-0.8871	10	0.35671	T	0.21	.	11.427	0.50015	0.1378:0.7216:0.1406:0.0	.	592;592	P02671-2;P02671	.;FIBA_HUMAN	R	592	ENSP00000306361:G592R;ENSP00000385981:G592R	ENSP00000306361:G592R	G	-	1	0	FGA	155726257	1.000000	0.71417	0.010000	0.14722	0.006000	0.05464	4.295000	0.59049	0.833000	0.34828	0.655000	0.94253	GGA	0	NULL		0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	protein_coding	OTTHUMT00000317593.1	53	218	0	0.00	0	0	C	NM_000508	0	0		155506807	-1	no_errors	ENST00000302053	ensembl	human	known	74_37	missense	34	142	19.05	15.38	8	26	SNP	0.59	T	T	155506807	C	T	155506807	3	4	112	1	0	0	0	0	1	0	0	0	5830	690	24	3	878	3	FGA	4	155506807	Missense_Mutation	SNP	C	TCGA-ZB-A96Q-01A-11D-A428-09		155506807	35647469	3	2172											
NIPBL	25836	genome.wustl.edu	37	chr5	37059083	37059083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaagaagtttccaggcctCggaagtcacggaaacgtgta	14	7	12	8	3	1	2	1	0	0	2	3	4	2	4	2	3	1	2	2	3	6	2			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr5:37059083C>T	ENST00000282516.8	+	44	8000	c.7501C>T	c.(7501-7503)Cgg>Tgg	p.R2501W	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2501W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2501					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCCAGGCCTCGGAAGTCACG	0.378																																							0											0													120	123	122					5																	37059083		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7501C>T	5.37:g.37059083C>T	ENSP00000282516:p.Arg2501Trp		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R2501W	ENST00000282516.8	37	c.7501	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533071	0.85812	.	.	ENSG00000164190	ENST00000282516;ENST00000448238;ENST00000513819	D;D;D	0.93488	-3.23;-3.22;-1.54	5.85	5.85	0.93711	.	0.056069	0.64402	D	0.000002	D	0.93187	0.7830	L	0.43152	1.355	0.49915	D	0.999838	D;D;D	0.69078	0.992;0.992;0.997	P;P;P	0.53006	0.522;0.522;0.715	D	0.93474	0.6821	10	0.72032	D	0.01	-7.0137	14.9345	0.70944	0.143:0.857:0.0:0.0	.	2501;2501;2501	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	W	2501;2501;27	ENSP00000282516:R2501W;ENSP00000406266:R2501W;ENSP00000421504:R27W	ENSP00000282516:R2501W	R	+	1	2	NIPBL	37094840	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.456000	0.44997	2.767000	0.95098	0.563000	0.77884	CGG	0	NULL		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	protein_coding	OTTHUMT00000207582.1	82	200	0	0.00	0	0	C	NM_015384	0	0		37059083	1	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	89	186	15.24	13.08	16	28	SNP	1	T	T	37059083	C	T	37059083	3	4	112	1	0	0	0	0	1	0	0	0	10428	875	31	2	7671	2	NIPBL	5	37059083	Missense_Mutation	SNP	C	TCGA-ZB-A96Q-01A-11D-A428-09		37059083	143856177	4	2173											
SAP30L	79685	genome.wustl.edu	37	chr5	153826204	153826204	+	Frame_Shift_Del	DEL	C	C	-																															aggaggacagccgcgaagggCcccccgccgccccagctgcc																										TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr5:153826204delC	ENST00000297109.6	+	1	688	c.40delC	c.(40-42)cccfs	p.P15fs	SAP30L_ENST00000440364.2_Frame_Shift_Del_p.P15fs|SAP30L-AS1_ENST00000501280.3_RNA|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000522312.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L_ENST00000426761.2_Frame_Shift_Del_p.P15fs|SAP30L_ENST00000523198.1_3'UTR	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	15					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(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCGCGAAgggccccccgccgc	0.776																																							0											0													2	3	3					5																	153826204		1487	3110	4597	SO:0001589	frameshift_variant	0			AY341060	CCDS4326.1, CCDS47321.1, CCDS47322.1	5q33.2	2008-02-05			ENSG00000164576	ENSG00000164576			25663	protein-coding gene	gene with protein product		610398				14680513	Standard	NM_001131062		Approved	FLJ11526, NS4ATP2	uc003lvk.3	Q9HAJ7	OTTHUMG00000130146	ENST00000297109.6:c.40delC	5.37:g.153826204delC	ENSP00000297109:p.Pro15fs		E9PAU7|E9PAY2	Frame_Shift_Del	DEL	NULL	p.A16fs	ENST00000297109.6	37	c.40	CCDS4326.1	5																																																																																			0	NULL		0.776	SAP30L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP30L	protein_coding	OTTHUMT00000252454.3	9	16	0	0.00	0	0	C	NM_024632	0	0		153826204	1	no_errors	ENST00000297109	ensembl	human	known	74_37	frame_shift_del	5	9	28.57	0.00	2	0	DEL	1	0	-	153826204	C	-	153826204	7	5	112	1	0	1	0	1	0	0	0	0	13835	739	26	0	42	0	SAP30L	5	153826204	Frame_Shift_Del	DEL	C	TCGA-ZB-A96Q-01A-11D-A428-09	116767121	153826204	27089056	5	2174											
MDN1	23195	genome.wustl.edu	37	chr6	90405582	90405582	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccacatgctggaaggcCtggctgctcccaagcagcag	8	6	13	14	0	0	0	0	0	0	0	1	1	1	1	3	4	4	5	3	4	2	0			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr6:90405582C>T	ENST00000369393.3	-	61	9628	c.9513G>A	c.(9511-9513)caG>caA	p.Q3171Q	MDN1_ENST00000428876.1_Silent_p.Q3171Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3171					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)		GCTGGAAGGCCTGGCTGCTCC	0.627																																							0											0													40	41	41					6																	90405582		2203	4300	6503	SO:0001819	synonymous_variant	0			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.9513G>A	6.37:g.90405582C>T			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.Q3171	ENST00000369393.3	37	c.9513	CCDS5024.1	6																																																																																			0	pirsf_Midasin		0.627	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	25	34	0	0.00	0	0	C		0	0		90405582	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	silent	22	40	15.38	6.98	4	3	SNP	0.72	T	T	90405582	C	T	90405582	2	4	112	1	0	0	0	0	0	0	0	1	9415	680	24	3		3	MDN1	6	90405582	Silent	SNP	C	TCGA-ZB-A96Q-01A-11D-A428-09		90405582	80709485	6	2175											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	380	104	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	270	85	16.41	16.67	53	17	SNP	1	A	A	74146970	T	A	74146970	3	1	112	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZB-A96Q-01A-11D-A428-09		74146970	84991693	7	2176											
ESCO2	157570	genome.wustl.edu	37	chr8	27634549	27634549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtaaatcagaagtcattGaagattctgatgtagagact	16	11	10	4	0	3	6	2	2	1	4	3	7	3	6	0	0	0	2	0	0	5	4			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr8:27634549G>A	ENST00000305188.8	+	3	962	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	242					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)		AGAAGTCATTGAAGATTCTGA	0.388									SC Phocomelia syndrome																														0											0													53	57	56					8																	27634549		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.724G>A	8.37:g.27634549G>A	ENSP00000306999:p.Glu242Lys		B3KW59|Q49AP4	Missense_Mutation	SNP	NULL	p.E242K	ENST00000305188.8	37	c.724	CCDS34872.1	8	.	.	.	.	.	.	.	.	.	.	G	0.743	-0.775579	0.02951	.	.	ENSG00000171320	ENST00000305188	T	0.63913	-0.07	5.83	1.58	0.23477	.	1.608370	0.03118	N	0.163317	T	0.50000	0.1590	L	0.35723	1.085	0.09310	N	0.999998	B;B	0.16396	0.017;0.002	B;B	0.14578	0.011;0.002	T	0.25082	-1.0142	10	0.07175	T	0.84	-2.1249	8.366	0.32387	0.3629:0.0:0.6371:0.0	.	242;242	E5RFE4;Q56NI9	.;ESCO2_HUMAN	K	242	ENSP00000306999:E242K	ENSP00000306999:E242K	E	+	1	0	ESCO2	27690468	0.137000	0.22531	0.126000	0.21872	0.137000	0.21094	0.390000	0.20768	0.400000	0.25396	0.591000	0.81541	GAA	0	NULL		0.388	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	protein_coding	OTTHUMT00000376276.1	74	156	0	0.00	0	0	G	NM_001017420	0	0		27634549	1	no_errors	ENST00000305188	ensembl	human	known	74_37	missense	59	127	22.37	17.95	17	28	SNP	0.008	A	A	27634549	G	A	27634549	3	1	112	1	0	0	0	0	1	0	0	0	5249	1291	45	3	730	3	ESCO2	8	27634549	Missense_Mutation	SNP	G	TCGA-ZB-A96Q-01A-11D-A428-09		27634549	118729473	8	2177											
ADHFE1	137872	genome.wustl.edu	37	chr8	67357602	67357602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattatgtcagtgcccccaTtggcaagggaaagcctgtgt	10	10	12	9	0	1	1	1	0	0	1	1	2	1	2	3	2	2	1	3	2	3	2			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr8:67357602T>C	ENST00000396623.3	+	6	534	c.503T>C	c.(502-504)aTt>aCt	p.I168T	ADHFE1_ENST00000415254.1_Missense_Mutation_p.I120T|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.I168T	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	168					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGTGCCCCCATTGGCAAGGGA	0.448																																							0											0													257	234	242					8																	67357602		2203	4300	6503	SO:0001583	missense	0			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.503T>C	8.37:g.67357602T>C	ENSP00000379865:p.Ile168Thr		B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	pfam_ADH_Fe	p.I168T	ENST00000396623.3	37	c.503	CCDS6190.2	8	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647833	0.87958	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T	0.48836	0.8;0.81	5.85	5.85	0.93711	Alcohol dehydrogenase, iron-type (1);	0.141387	0.64402	D	0.000010	T	0.73009	0.3532	M	0.88031	2.925	0.80722	D	1	D	0.63046	0.992	D	0.68039	0.955	T	0.77968	-0.2388	9	.	.	.	1.0093	16.2421	0.82418	0.0:0.0:0.0:1.0	.	168	Q8IWW8	HOT_HUMAN	T	168;168;120	ENSP00000379865:I168T;ENSP00000407115:I120T	.	I	+	2	0	ADHFE1	67520156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.707000	0.84623	2.234000	0.73211	0.533000	0.62120	ATT	0	pfam_ADH_Fe		0.448	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	protein_coding	OTTHUMT00000316867.3	41	172	0	0.00	0	0	T	NM_144650	0	0		67357602	1	no_errors	ENST00000396623	ensembl	human	known	74_37	missense	43	147	12.24	16.00	6	28	SNP	1	C	C	67357602	T	C	67357602	3	2	112	1	0	0	0	0	1	0	0	0	314	1493	52	3	525	3	ADHFE1	8	67357602	Missense_Mutation	SNP	T	TCGA-ZB-A96Q-01A-11D-A428-09	39723053	67357602	79006420	9	2178											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24883930	24883931	+	Frame_Shift_Ins	INS	-	-	A																															tcagatgagctgaaaggaacINSttaagtgtttcataatgatg																										TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr10:24883930_24883931insA	ENST00000396432.2	-	21	4310_4311	c.3824_3825insT	c.(3823-3825)aagfs	p.K1275fs	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Frame_Shift_Ins_p.K1062fs	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1274	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						CTGAAAGGAACTTAAGTGTTTC	0.322																																							0											0																																										SO:0001589	frameshift_variant	0			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.3824_3825insT	10.37:g.24883930_24883931insA	ENSP00000379709:p.Lys1275fs		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Ins	INS	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.K1275fs	ENST00000396432.2	37	c.3825_3824	CCDS7144.2	10																																																																																			0	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.322	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	protein_coding	OTTHUMT00000047229.4	120	82	0	0.00	0	0	0	NM_020824	0	0		24883931	-1	no_errors	ENST00000396432	ensembl	human	known	74_37	frame_shift_ins	76	96	20	6.80	19	7	INS	1.000:1.000	A	A	24883931	-	A	24883930	7	5	112	1	0	1	1	0	0	0	0	0	871	564	20	0	2075	0	ARHGAP21	10	24883930	Frame_Shift_Ins	INS	-	TCGA-ZB-A96Q-01A-11D-A428-09		24883930	110650817	10	2179	14	2									
ARHGAP21	57584	genome.wustl.edu	37	chr10	24883931	24883932	+	Frame_Shift_Ins	INS	-	-	C																															cagatgagctgaaaggaactINStaagtgtttcataatgatgt																										TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr10:24883931_24883932insC	ENST00000396432.2	-	21	4309_4310	c.3823_3824insG	c.(3823-3825)aagfs	p.K1275fs	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Frame_Shift_Ins_p.K1062fs	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1274	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						TGAAAGGAACTTAAGTGTTTCA	0.322																																							0											0																																										SO:0001589	frameshift_variant	0			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.3823_3824insG	10.37:g.24883931_24883932insC	ENSP00000379709:p.Lys1275fs		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Ins	INS	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.K1275fs	ENST00000396432.2	37	c.3824_3823	CCDS7144.2	10																																																																																			0	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.322	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	protein_coding	OTTHUMT00000047229.4	121	84	0	0.00	0	0	0	NM_020824	0	0		24883932	-1	no_errors	ENST00000396432	ensembl	human	known	74_37	frame_shift_ins	75	98	20.21	6.67	19	7	INS	1.000:1.000	C	C	24883932	-	C	24883931	7	5	112	1	0	1	1	0	0	0	0	0	871	1609	56	0	2076	0	ARHGAP21	10	24883931	Frame_Shift_Ins	INS	-	TCGA-ZB-A96Q-01A-11D-A428-09	1	24883931	110650816	11	2180	14	2									
RIC3	79608	genome.wustl.edu	37	chr11	8190532	8190532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgcactgtggagtacGccatgactgctcacggtggt	6	11	12	12	2	2	1	1	1	1	0	3	2	2	2	1	3	3	3	1	3	1	1			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr11:8190532G>A	ENST00000309737.6	-	1	4	c.5C>T	c.(4-6)gCg>gTg	p.A2V	RIC3_ENST00000343202.4_Missense_Mutation_p.A2V|RIC3_ENST00000539720.1_5'UTR|RIC3_ENST00000425599.2_Missense_Mutation_p.A2V|RIC3_ENST00000335425.7_Missense_Mutation_p.A2V|RIC3_ENST00000419822.2_Missense_Mutation_p.A2V|RP11-379P15.1_ENST00000499752.2_lincRNA			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	2					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TGTGGAGTACGCCATGACTGC	0.697																																							0											0													38	32	34					11																	8190532		2201	4296	6497	SO:0001583	missense	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.5C>T	11.37:g.8190532G>A	ENSP00000308820:p.Ala2Val		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	NULL	p.A2V	ENST00000309737.6	37	c.5	CCDS55742.1	11	.	.	.	.	.	.	.	.	.	.	g	13.41	2.229361	0.39399	.	.	ENSG00000166405	ENST00000335425;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000425599;ENST00000531450;ENST00000419822	T;T;T;T;T	0.54866	1.11;1.11;1.12;1.14;0.55	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000013	T	0.71550	0.3353	M	0.69823	2.125	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	0.87578	0.997;0.981;0.996;0.998;0.998;0.998	T	0.70498	-0.4855	10	0.37606	T	0.19	-11.8787	17.3187	0.87230	0.0:0.0:1.0:0.0	.	2;2;2;2;2;2	B7Z1U4;B0B1U0;Q7Z5B4-2;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5	.;.;.;.;RIC3_HUMAN;.	V	2	ENSP00000344904:A2V;ENSP00000308820:A2V;ENSP00000395320:A2V;ENSP00000431658:A2V;ENSP00000404415:A2V	ENSP00000308820:A2V	A	-	2	0	RIC3	8147108	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	4.961000	0.63681	2.428000	0.82296	0.486000	0.48141	GCG	0	NULL		0.697	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	protein_coding	OTTHUMT00000385900.1	22	18	0	0.00	0	0	G	NM_024557	0	0		8190532	-1	no_errors	ENST00000309737	ensembl	human	known	74_37	missense	27	8	12.9	0.00	4	0	SNP	1	A	A	8190532	G	A	8190532	3	1	112	1	0	0	0	0	1	0	0	0	13354	1087	38	1	1125	1	RIC3	11	8190532	Missense_Mutation	SNP	G	TCGA-ZB-A96Q-01A-11D-A428-09		8190532	126815984	12	2181											
PRICKLE1	144165	genome.wustl.edu	37	chr12	42864131	42864131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttaacgtaaggaactttttCctctggtaagcaagcaaaat	14	12	8	7	1	1	0	0	0	1	0	2	1	2	1	1	2	4	5	1	2	7	5			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr12:42864131C>T	ENST00000455697.1	-	3	448	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E55K|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E55K|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E55K|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E55K	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	55	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				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)		GGAACTTTTTCCTCTGGTAAG	0.408																																							0											0													111	100	104					12																	42864131		2203	4300	6503	SO:0001583	missense	0			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.163G>A	12.37:g.42864131C>T	ENSP00000401060:p.Glu55Lys		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E55K	ENST00000455697.1	37	c.163	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870271	0.72065	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108;ENST00000551050;ENST00000547113	D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.38	5.38	0.77491	PET domain (2);	0.335739	0.38548	N	0.001658	D	0.85915	0.5808	L	0.49640	1.575	0.80722	D	1	B	0.12013	0.005	B	0.21151	0.033	T	0.81686	-0.0820	10	0.59425	D	0.04	-4.6857	19.5701	0.95409	0.0:1.0:0.0:0.0	.	55	Q96MT3	PRIC1_HUMAN	K	55	ENSP00000401060:E55K;ENSP00000398947:E55K;ENSP00000448359:E55K;ENSP00000345064:E55K;ENSP00000449819:E55K;ENSP00000447870:E55K;ENSP00000446970:E55K;ENSP00000446699:E55K	ENSP00000345064:E55K	E	-	1	0	PRICKLE1	41150398	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.773000	0.85462	2.702000	0.92279	0.556000	0.70494	GAA	0	pfam_PET_domain		0.408	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	protein_coding	OTTHUMT00000404069.1	33	226	0	0.00	0	0	C		0	0		42864131	-1	no_errors	ENST00000345127	ensembl	human	known	74_37	missense	34	208	8.11	15.79	3	39	SNP	1	T	T	42864131	C	T	42864131	3	4	112	1	0	0	0	0	1	0	0	0	12486	864	30	3	2356	3	PRICKLE1	12	42864131	Missense_Mutation	SNP	C	TCGA-ZB-A96Q-01A-11D-A428-09		42864131	90987764	13	2182											
ATP2C2	9914	genome.wustl.edu	37	chr16	84456271	84456271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggggaaagctctcagttcGgagaagtgtttaagatgatg	12	10	14	5	1	1	3	1	1	1	2	3	5	1	4	0	3	1	3	0	3	3	3	rs201615601		TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr16:84456271G>A	ENST00000262429.4	+	9	900	c.811G>A	c.(811-813)Gga>Aga	p.G271R	ATP2C2_ENST00000416219.2_Missense_Mutation_p.G271R|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	271					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						CTCTCAGTTCGGAGAAGTGTT	0.502																																							0											0								G	ARG/GLY	4,3762		0,4,1879	196	196	196		811	5.2	1	16		196	0,8224		0,0,4112	yes	missense	ATP2C2	NM_014861.2	125	0,4,5991	AA,AG,GG		0.0,0.1062,0.0334	probably-damaging	271/947	84456271	4,11986	1883	4112	5995	SO:0001583	missense	0			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.811G>A	16.37:g.84456271G>A	ENSP00000262429:p.Gly271Arg		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.G271R	ENST00000262429.4	37	c.811	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992945	0.93167	0.001062	0.0	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.93189	-3.18;-3.18	5.16	5.16	0.70880	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000004	D	0.98648	0.9547	H	0.99944	5.01	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	0.99445	1.0939	10	0.87932	D	0	.	17.1945	0.86888	0.0:0.0:1.0:0.0	.	271;120;288;271	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	R	271;271;120	ENSP00000397925:G271R;ENSP00000262429:G271R	ENSP00000262429:G271R	G	+	1	0	ATP2C2	83013772	1.000000	0.71417	0.971000	0.41717	0.905000	0.53344	9.201000	0.95017	2.381000	0.81170	0.650000	0.86243	GGA	0	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1		0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	protein_coding	OTTHUMT00000433404.1	33	153	0	0.00	0	0	G	NM_014861	rs201615601	G->A		84456271	1	no_errors	ENST00000262429	ensembl	human	known	74_37	missense	22	141	18.52	9.62	5	15	SNP	1	A	A	84456271	G	A	84456271	3	1	112	1	0	0	0	0	1	0	0	0	1144	1117	39	2	845	2	ATP2C2	16	84456271	Missense_Mutation	SNP	G	TCGA-ZB-A96Q-01A-11D-A428-09		84456271	5898482	14	2183											
C19orf29	58509	genome.wustl.edu	37	chr19	3620801	3620801	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccttcttctccagggcCtggaagcaccaggcacacct	8	8	8	17	0	2	0	0	0	2	0	4	1	3	1	6	3	1	2	6	3	1	2			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr19:3620801C>G	ENST00000429344.2	-	3	695		c.e3-1		CACTIN_ENST00000221899.3_Splice_Site|CACTIN_ENST00000248420.5_Splice_Site	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit						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)										TCTCCAGGGCCTGGAAGCACC	0.622																																							0											0													72	80	77					19																	3620801		2066	4177	6243	SO:0001630	splice_region_variant	0			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.643-1G>C	19.37:g.3620801C>G			A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Splice_Site	SNP	0	e2-1	ENST00000429344.2	37	c.439-1	CCDS45920.1	19	.	.	.	.	.	.	.	.	.	.	c	14.87	2.663273	0.47572	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	3.3	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7571	0.62943	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf29	3571801	1.000000	0.71417	0.996000	0.52242	0.477000	0.33069	6.955000	0.76007	1.689000	0.51079	0.457000	0.33378	.	0	0		0.622	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	protein_coding	OTTHUMT00000457370.2	10	139	0	0.00	0	0	C		0	0	Intron	3620801	-1	no_errors	ENST00000221899	ensembl	human	known	74_37	splice_site	19	81	9.52	8.99	2	8	SNP	1	G	G	3620801	C	G	3620801	5	3	112	1	0	0	0	0	0	0	1	0	1918	695	24	5	1666	5	C19orf29	19	3620801	Splice_Site	SNP	C	TCGA-ZB-A96Q-01A-11D-A428-09		3620801	55508182	15	2184											
EVI5L	115704	genome.wustl.edu	37	chr19	7927379	7927379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaggggctgcagacgcagCtcagcgaaagccgccgcaag	12	2	14	13	4	1	1	1	0	0	1	1	2	1	1	2	2	4	5	2	2	3	0			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr19:7927379C>T	ENST00000270530.4	+	16	2069	c.1873C>T	c.(1873-1875)Ctc>Ttc	p.L625F	EVI5L_ENST00000538904.2_Missense_Mutation_p.L636F	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	625					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						GCAGACGCAGCTCAGCGAAAG	0.711																																							0											0													9	12	11					19																	7927379		2161	4244	6405	SO:0001583	missense	0			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.1873C>T	19.37:g.7927379C>T	ENSP00000270530:p.Leu625Phe		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L636F	ENST00000270530.4	37	c.1906	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	c	21.4	4.145730	0.77888	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.30714	1.52;1.52	4.43	4.43	0.53597	.	0.152547	0.45126	D	0.000390	T	0.48187	0.1486	M	0.71206	2.165	0.44562	D	0.997528	D;P	0.56287	0.975;0.955	P;P	0.58210	0.835;0.835	T	0.51772	-0.8663	10	0.72032	D	0.01	-18.5448	12.4372	0.55606	0.0:1.0:0.0:0.0	.	636;625	B9A6I9;Q96CN4	.;EVI5L_HUMAN	F	625;636	ENSP00000270530:L625F;ENSP00000445905:L636F	ENSP00000270530:L625F	L	+	1	0	EVI5L	7833379	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.808000	0.55598	2.315000	0.78130	0.550000	0.68814	CTC	0	NULL		0.711	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	protein_coding	OTTHUMT00000461347.1	19	19	0	0.00	0	0	C	NM_145245	0	0		7927379	1	no_errors	ENST00000538904	ensembl	human	known	74_37	missense	15	10	21.05	0.00	4	0	SNP	1	T	T	7927379	C	T	7927379	3	4	112	1	0	0	0	0	1	0	0	0	5290	797	28	3	1968	3	EVI5L	19	7927379	Missense_Mutation	SNP	C	TCGA-ZB-A96Q-01A-11D-A428-09	4306578	7927379	51201604	16	2185											
GPR112	139378	genome.wustl.edu	37	chrX	135427620	135427620	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacacgtacagccttaacTcctgaaatcacacttgcatc	12	10	5	14	1	1	1	1	1	0	0	3	1	2	1	2	0	5	3	2	0	4	4			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chrX:135427620T>C	ENST00000394143.1	+	6	2046	c.1755T>C	c.(1753-1755)acT>acC	p.T585T	GPR112_ENST00000287534.4_Silent_p.T522T|GPR112_ENST00000412101.1_Silent_p.T380T|GPR112_ENST00000370652.1_Silent_p.T585T|GPR112_ENST00000394141.1_Silent_p.T380T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	585					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.T585T(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)					CAGCCTTAACTCCTGAAATCA	0.433																																							0											1	Substitution - coding silent(1)	lung(1)											107	83	91					X																	135427620		2203	4300	6503	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1755T>C	X.37:g.135427620T>C			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.T585	ENST00000394143.1	37	c.1755	CCDS35409.1	X																																																																																			0	NULL		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	33	98	0	0.00	0	0	T		0	0		135427620	1	no_errors	ENST00000370652	ensembl	human	known	74_37	silent	20	66	25.93	31.96	7	31	SNP	0	C	C	135427620	T	C	135427620	2	2	112	1	0	0	0	0	0	0	0	1	6629	1538	54	4		4	GPR112	23	135427620	Silent	SNP	T	TCGA-ZB-A96Q-01A-11D-A428-09		135427620	19842940	17	2186											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651393	1651393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtggggtgtccaagggggCctgtggctcctgtggggggt	2	10	21	8	0	0	0	0	0	0	0	2	0	2	0	3	8	0	1	3	8	1	0			TCGA-ZB-A96R-01A-11D-A428-09	TCGA-ZB-A96R-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	1dcfb980-8d1e-42cc-aa00-b9de341e8d67	a5bbff14-0f5a-48b6-bd1f-ff202c445824	g.chr11:1651393C>G	ENST00000399676.2	+	1	361	c.323C>G	c.(322-324)gCc>gGc	p.A108G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	108	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.A108G(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)		TCCAAGGGGGCCTGTGGCTCC	0.687																																							0											1	Substitution - Missense(1)	endometrium(1)											39	54	49					11																	1651393		2187	4284	6471	SO:0001583	missense	0			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.323C>G	11.37:g.1651393C>G	ENSP00000382584:p.Ala108Gly		A8MWN2	Missense_Mutation	SNP	NULL	p.A108G	ENST00000399676.2	37	c.323	CCDS41592.1	11	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.308300	0.01342	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.00882	5.58	2.6	1.66	0.24008	.	.	.	.	.	T	0.00271	0.0008	N	0.00018	-2.82	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.44726	-0.9309	9	0.30078	T	0.28	.	9.6754	0.40037	0.0:0.2169:0.783:0.0	.	108	Q701N2	KRA55_HUMAN	G	108;79	ENSP00000382584:A108G	ENSP00000382584:A108G	A	+	2	0	KRTAP5-5	1607969	0.020000	0.18652	1.000000	0.80357	0.027000	0.11550	-1.742000	0.01835	0.397000	0.25310	-0.701000	0.03672	GCC	0	NULL		0.687	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	42	3	0	0.00	0	0	C		0	0		1651393	1	no_errors	ENST00000399676	ensembl	human	known	74_37	missense	49	9	7.41	18.18	4	2	SNP	0.949	G	G	1651393	C	G	1651393	3	3	113	1	0	0	0	0	1	0	0	0	8564	739	26	5	325	5	KRTAP5-5	11	1651393	Missense_Mutation	SNP	C	TCGA-ZB-A96R-01A-11D-A428-09		1651393	133355123	1	2187											
FNBP4	23360	genome.wustl.edu	37	chr11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-																															ttttgggagctggtggtggtGgaggaggaggaggaggaggt																										TCGA-ZB-A96R-01A-11D-A428-09	TCGA-ZB-A96R-10A-01D-A42B-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1dcfb980-8d1e-42cc-aa00-b9de341e8d67	a5bbff14-0f5a-48b6-bd1f-ff202c445824	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cctcca>cca	p.914_915PP>P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		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						tggtggtggtggaggaggaggag	0.458																																							0											1	Substitution - coding silent(1)	endometrium(1)								3,75,3660		0,0,3,5,65,1796						-0.3	0.9			14	11,190,7695		0,0,11,2,186,3749	no	codingComplex	FNBP4	NM_015308.2		0,0,14,7,251,5545	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5456,2.0867,2.3981				14,265,11355				SO:0001651	inframe_deletion	0			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.2742_2744delTCC	11.37:g.47744598_47744600delGGA	ENSP00000263773:p.Pro918del		Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P918in_frame_del	ENST00000263773.5	37	c.2744_2742	CCDS41644.1	11																																																																																			0	NULL		0.458	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	protein_coding	OTTHUMT00000390237.3	50	3	0	0.00	0	0	GGA		0	0		47744591	-1	no_errors	ENST00000263773	ensembl	human	known	74_37	in_frame_del	28	1	9.68	0.00	3	0	DEL	0.925:0.888:0.174	0	-	47744591	GGA	-	47744589	7	5	113	1	0	1	0	1	0	0	0	0	5967	1348	47	0	321	0	FNBP4	11	47744589	In_Frame_Del	DEL	GGA	TCGA-ZB-A96R-01A-11D-A428-09	46093196	47744589	87261927	2	2188											
SOX8	30812	genome.wustl.edu	37	chr16	1032197	1032197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgccggtgcgcggcggcgGcggcggcgcgctcaaagcca	5	3	18	15	9	1	0	1	0	0	0	1	0	1	0	2	6	3	1	2	6	1	0			TCGA-ZB-A96R-01A-11D-A428-09	TCGA-ZB-A96R-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1dcfb980-8d1e-42cc-aa00-b9de341e8d67	a5bbff14-0f5a-48b6-bd1f-ff202c445824	g.chr16:1032197G>T	ENST00000293894.3	+	1	390	c.275G>T	c.(274-276)gGc>gTc	p.G92V	RP11-161M6.2_ENST00000565467.1_lincRNA	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	92					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)				cgcggcggcggcggcggcgcg	0.721																																							0											0													3	3	3					16																	1032197		1781	3564	5345	SO:0001583	missense	0			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.275G>T	16.37:g.1032197G>T	ENSP00000293894:p.Gly92Val		Q9NZW2	Missense_Mutation	SNP	pfam_HMG_box_dom,pfam_Sox_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G92V	ENST00000293894.3	37	c.275	CCDS10428.1	16	.	.	.	.	.	.	.	.	.	.	G	8.446	0.852043	0.17034	.	.	ENSG00000005513	ENST00000293894	D	0.93547	-3.24	2.22	1.26	0.21427	High mobility group, superfamily (1);	0.185233	0.47455	D	0.000238	D	0.91057	0.7186	M	0.78285	2.405	0.80722	D	1	B	0.17038	0.02	B	0.18871	0.023	D	0.86786	0.1982	10	0.87932	D	0	.	6.9856	0.24727	0.1516:0.0:0.8484:0.0	.	92	P57073	SOX8_HUMAN	V	92	ENSP00000293894:G92V	ENSP00000293894:G92V	G	+	2	0	SOX8	972198	0.958000	0.32768	0.995000	0.50966	0.409000	0.31022	1.490000	0.35573	0.516000	0.28340	0.305000	0.20034	GGC	0	superfamily_HMG_box_dom		0.721	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX8	protein_coding	OTTHUMT00000242867.1	22	3	0	0.00	0	0	G		0	0		1032197	1	no_errors	ENST00000293894	ensembl	human	known	74_37	missense	14	2	22.22	0.00	4	0	SNP	1	T	T	1032197	G	T	1032197	3	4	113	1	0	0	0	0	1	0	0	0	14957	1203	42	5	277	5	SOX8	16	1032197	Missense_Mutation	SNP	G	TCGA-ZB-A96R-01A-11D-A428-09		1032197	89322556	3	2189											
HS3ST4	9951	genome.wustl.edu	37	chr16	25703804	25703804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggccgcgccgccgccGcccggcgcctctgctaaggg	2	5	14	20	7	2	0	0	0	2	0	2	0	2	0	7	3	1	1	7	3	1	1			TCGA-ZB-A96R-01A-11D-A428-09	TCGA-ZB-A96R-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1dcfb980-8d1e-42cc-aa00-b9de341e8d67	a5bbff14-0f5a-48b6-bd1f-ff202c445824	g.chr16:25703804G>A	ENST00000331351.5	+	1	458	c.66G>A	c.(64-66)ccG>ccA	p.P22P		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	22					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)		cgccgccgccgcccggcgcct	0.756																																							0											0													3	4	4					16																	25703804		1060	2361	3421	SO:0001819	synonymous_variant	0			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.66G>A	16.37:g.25703804G>A			Q5QI42|Q8NDC2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P22	ENST00000331351.5	37	c.66	CCDS53995.1	16																																																																																			0	NULL		0.756	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	protein_coding	OTTHUMT00000133286.2	21	11	0	0.00	0	0	G	NM_006040	0	0		25703804	1	no_errors	ENST00000331351	ensembl	human	known	74_37	silent	14	8	22.22	0.00	4	0	SNP	1	A	A	25703804	G	A	25703804	2	1	113	1	0	0	0	0	0	0	0	1	7367	1074	38	1		1	HS3ST4	16	25703804	Silent	SNP	G	TCGA-ZB-A96R-01A-11D-A428-09	24671607	25703804	64650949	4	2190											
PLOD1	5351	genome.wustl.edu	37	chr1	12018611	12018611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctggtcggcgtgttcatCgaacagcccacgccgtttgt	5	11	12	13	5	1	0	1	0	0	0	4	1	2	0	3	2	2	2	3	2	1	2			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:12018611C>T	ENST00000196061.4	+	9	909	c.882C>T	c.(880-882)atC>atT	p.I294I	PLOD1_ENST00000376369.3_Silent_p.I341I|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	294					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)	GCGTGTTCATCGAACAGCCCA	0.602																																							0											0													78	63	68					1																	12018611		2203	4300	6503	SO:0001819	synonymous_variant	0			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.882C>T	1.37:g.12018611C>T			B4DR87|Q96AV9|Q9H132	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.I341	ENST00000196061.4	37	c.1023	CCDS142.1	1																																																																																			0	NULL		0.602	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	protein_coding	OTTHUMT00000006865.1	29	153	0	0.00	0	0	C	NM_000302	0	0		12018611	1	no_errors	ENST00000376369	ensembl	human	known	74_37	silent	23	201	14.81	19.60	4	49	SNP	0.988	T	T	12018611	C	T	12018611	2	4	114	1	0	0	0	0	0	0	0	1	12101	874	31	2		2	PLOD1	1	12018611	Silent	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09		12018611	237232010	1	2191											
FPGT	8790	genome.wustl.edu	37	chr1	74665349	74665349	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctttttccaaataggCaaacttgtagcacgtggaga	11	12	9	9	1	0	1	0	0	0	1	1	2	1	1	2	2	3	4	2	2	4	6			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:74665349C>T	ENST00000609362.1	+	2	121	c.84C>T	c.(82-84)ggC>ggT	p.G28G	FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.G28G|TNNI3K_ENST00000370891.2_Splice_Site_p.G28G|LRRIQ3_ENST00000370909.2_5'Flank|FPGT_ENST00000482102.2_Splice_Site_p.G50G|FPGT_ENST00000467578.2_Splice_Site_p.G41G|LRRIQ3_ENST00000354431.4_5'Flank|FPGT_ENST00000370898.3_Splice_Site_p.G41G|LRRIQ3_ENST00000370911.3_5'Flank|FPGT-TNNI3K_ENST00000370893.1_Splice_Site_p.G28G|FPGT_ENST00000534056.1_Splice_Site_p.G28G|FPGT_ENST00000524915.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.G41G|FPGT-TNNI3K_ENST00000370895.1_Splice_Site_p.G28G|FPGT_ENST00000370894.5_Splice_Site_p.G28G|FPGT-TNNI3K_ENST00000533006.1_3'UTR	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	28					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						TCCAAATAGGCAAACTTGTAG	0.378																																							0											0													82	82	82					1																	74665349		2203	4300	6503	SO:0001630	splice_region_variant	0			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.83-1C>T	1.37:g.74665349C>T			A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	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.G41	ENST00000609362.1	37	c.123	CCDS663.1	1																																																																																			0	NULL		0.378	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT-TNNI3K	protein_coding		64	278	0	0.00	0	0	C		0	0	Silent	74665349	1	no_errors	ENST00000557284	ensembl	human	known	74_37	silent	31	214	27.91	20.15	12	54	SNP	1	T	T	74665349	C	T	74665349	5	4	114	1	0	0	0	0	0	0	1	0	6037	724	25	3	90	3	FPGT	1	74665349	Splice_Site	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	62646738	74665349	174585272	2	2192											
NGF	4803	genome.wustl.edu	37	chr1	115829263	115829263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccgctgccggggcgctgcGggctctgcgaagggcagtgt	3	6	19	13	6	1	0	0	0	1	0	1	1	1	0	2	4	3	4	2	4	1	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:115829263G>T	ENST00000369512.2	-	3	322	c.154C>A	c.(154-156)Cgc>Agc	p.R52S	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	52					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)	GGGGCGCTGCGGGCTCTGCGA	0.617																																							0											0													72	63	66					1																	115829263		2203	4300	6503	SO:0001583	missense	0				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.154C>A	1.37:g.115829263G>T	ENSP00000358525:p.Arg52Ser		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.R52S	ENST00000369512.2	37	c.154	CCDS882.1	1	.	.	.	.	.	.	.	.	.	.	G	9.129	1.010891	0.19277	.	.	ENSG00000134259	ENST00000369512	T	0.61040	0.14	5.36	4.43	0.53597	.	0.640939	0.15376	N	0.265581	T	0.37972	0.1023	L	0.50333	1.59	0.38562	D	0.949723	B	0.14805	0.011	B	0.17433	0.018	T	0.37150	-0.9718	10	0.54805	T	0.06	-5.512	13.0911	0.59167	0.0:0.1617:0.8383:0.0	.	52	P01138	NGF_HUMAN	S	52	ENSP00000358525:R52S	ENSP00000358525:R52S	R	-	1	0	NGF	115630786	0.998000	0.40836	0.897000	0.35233	0.033000	0.12548	2.605000	0.46283	1.216000	0.43427	0.467000	0.42956	CGC	0	pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor_bsu_mml		0.617	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGF	protein_coding	OTTHUMT00000032832.1	24	105	0	0.94	0	1	G	NM_002506	0	0		115829263	-1	no_errors	ENST00000369512	ensembl	human	known	74_37	missense	18	113	37.93	23.13	11	34	SNP	1	T	T	115829263	G	T	115829263	3	4	114	1	0	0	0	0	1	0	0	0	10395	1116	39	5	575	5	NGF	1	115829263	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	41163914	115829263	133421358	3	2193											
FLG	2312	genome.wustl.edu	37	chr1	152278164	152278164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagactgttcatgagtgctCacctggtagaggaaagatcc	11	10	11	9	0	3	4	3	1	0	3	4	5	4	5	2	2	1	3	2	2	2	2			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:152278164C>T	ENST00000368799.1	-	3	9233	c.9198G>A	c.(9196-9198)gtG>gtA	p.V3066V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3066	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)			CATGAGTGCTCACCTGGTAGA	0.602									Ichthyosis																														0											0																																										SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9198G>A	1.37:g.152278164C>T			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.V3066	ENST00000368799.1	37	c.9198	CCDS30860.1	1																																																																																			0	NULL		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	21	5	0	0.00	0	0	C	NM_002016	0	0		152278164	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	silent	5	1	44.44	80.00	4	4	SNP	0	T	T	152278164	C	T	152278164	2	4	114	1	0	0	0	0	0	0	0	1	5922	813	29	3		3	FLG	1	152278164	Silent	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	36448901	152278164	96972457	4	2194											
INTS7	25896	genome.wustl.edu	37	chr1	212141959	212141959	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggctattacaagtacAgataagttgagagaaggctt	14	11	10	6	0	1	3	1	1	0	2	1	4	1	3	0	2	2	4	0	2	6	7			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:212141959A>C	ENST00000366994.3	-	14	2010	c.1906T>G	c.(1906-1908)Tgt>Ggt	p.C636G	INTS7_ENST00000440600.2_Missense_Mutation_p.C587G|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.C636G|INTS7_ENST00000366993.3_Missense_Mutation_p.C636G	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	636					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)		TTACAAGTACAGATAAGTTGA	0.438																																							0											0													130	116	121					1																	212141959		2203	4300	6503	SO:0001583	missense	0			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.1906T>G	1.37:g.212141959A>C	ENSP00000355961:p.Cys636Gly		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C587G	ENST00000366994.3	37	c.1759	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666311	0.47677	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.64085	0.95;0.95;0.96;-0.08	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.78314	0.986;0.991;0.986;0.991	T	0.68239	-0.5461	10	0.27082	T	0.32	-13.8101	15.2636	0.73643	1.0:0.0:0.0:0.0	.	587;636;636;636	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	G	636;636;636;587	ENSP00000355961:C636G;ENSP00000355960:C636G;ENSP00000355959:C636G;ENSP00000388908:C587G	ENSP00000355959:C636G	C	-	1	0	INTS7	210208582	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.999000	0.93557	2.016000	0.59253	0.533000	0.62120	TGT	0	NULL		0.438	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	protein_coding	OTTHUMT00000090142.1	42	269	0	0.00	0	0	A	NM_015434	0	0		212141959	-1	no_errors	ENST00000440600	ensembl	human	known	74_37	missense	48	316	20	16.09	12	61	SNP	1	C	C	212141959	A	C	212141959	3	2	114	1	0	0	0	0	1	0	0	0	7783	188	7	5	1010	5	INTS7	1	212141959	Missense_Mutation	SNP	A	TCGA-ZB-A96V-01A-11D-A428-09	59863795	212141959	37108662	5	2195											
TBCE	6905	genome.wustl.edu	37	chr1	235577839	235577839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaccgctatgtgttagaaGatggaccagaggaagataga	16	7	13	5	1	0	6	0	0	0	6	0	8	0	8	2	2	1	2	2	2	6	3			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr1:235577839G>A	ENST00000366601.3	+	4	453	c.277G>A	c.(277-279)Gat>Aat	p.D93N	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.D93N|TBCE_ENST00000543662.1_Missense_Mutation_p.D93N			Q15813	TBCE_HUMAN	tubulin folding cofactor E	93					'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)			TGTGTTAGAAGATGGACCAGA	0.393																																							0											0													107	107	107					1																	235577839		2203	4299	6502	SO:0001583	missense	0			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.277G>A	1.37:g.235577839G>A	ENSP00000355560:p.Asp93Asn		A8K8C2|B7Z3P1	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ribosomal_S21e,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.D93N	ENST00000366601.3	37	c.277	CCDS1605.1	1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637218	0.29157	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.42900	0.96;0.96;0.96	5.57	4.64	0.57946	Cytoskeleton-associated protein, Gly-rich domain (1);	0.460251	0.26586	N	0.023553	T	0.33614	0.0869	L	0.60455	1.87	0.37627	D	0.921533	P;B	0.34934	0.476;0.011	B;B	0.28011	0.085;0.026	T	0.19910	-1.0291	10	0.21014	T	0.42	-19.1072	10.6677	0.45741	0.1525:0.0:0.8475:0.0	.	93;93	B7Z3P1;Q15813	.;TBCE_HUMAN	N	93	ENSP00000355560:D93N;ENSP00000384571:D93N;ENSP00000439170:D93N	ENSP00000355560:D93N	D	+	1	0	TBCE	233644462	1.000000	0.71417	0.879000	0.34478	0.326000	0.28443	3.268000	0.51585	2.784000	0.95788	0.585000	0.79938	GAT	0	superfamily_CAP-Gly_domain		0.393	TBCE-001	KNOWN	basic|CCDS	protein_coding	TBCE	protein_coding	OTTHUMT00000096458.3	182	352	0	0.28	0	1	G	NM_003193	0	0		235577839	1	no_errors	ENST00000543662	ensembl	human	known	74_37	missense	116	363	11.45	18.24	15	81	SNP	0.979	A	A	235577839	G	A	235577839	3	1	114	1	0	0	0	0	1	0	0	0	15631	942	33	3	287	3	TBCE	1	235577839	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	23435880	235577839	13672782	6	2196											
TMEM87B	84910	genome.wustl.edu	37	chr2	112854654	112854654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacaaactatgaagaccCtaaggctaagaaagaacact	18	6	8	9	0	0	4	0	1	0	3	0	4	0	4	1	2	2	2	1	2	7	3			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr2:112854654C>T	ENST00000283206.4	+	12	1507	c.1138C>T	c.(1138-1140)Cta>Tta	p.L380L	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	380						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TATGAAGACCCTAAGGCTAAG	0.279																																							0											0													87	99	95					2																	112854654		2196	4293	6489	SO:0001819	synonymous_variant	0			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1138C>T	2.37:g.112854654C>T			A8K2M9|Q1RLN2|Q53R54	Silent	SNP	pfam_TM_rcpt_euk	p.L380	ENST00000283206.4	37	c.1138	CCDS33275.1	2																																																																																			0	pfam_TM_rcpt_euk		0.279	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM87B	protein_coding	OTTHUMT00000330500.1	58	318	0	0.00	0	0	C	NM_032824	0	0		112854654	1	no_errors	ENST00000283206	ensembl	human	known	74_37	silent	27	193	15.62	22.49	5	56	SNP	1	T	T	112854654	C	T	112854654	2	4	114	1	0	0	0	0	0	0	0	1	16208	680	24	3		3	TMEM87B	2	112854654	Silent	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09		112854654	130344719	7	2197											
EPB41L5	57669	genome.wustl.edu	37	chr2	120932475	120932475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagtgtttactgaccactGagctctgagggcctgtagct	9	11	12	9	0	1	4	0	3	1	1	1	4	1	4	2	1	3	4	2	1	3	3			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr2:120932475G>A	ENST00000263713.5	+	25	2408	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	EPB41L5_ENST00000452780.1_Missense_Mutation_p.E731K|EPB41L5_ENST00000443902.2_Silent_p.*688*|AC012363.4_ENST00000455707.1_RNA	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	732					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ACTGACCACTGAGCTCTGAGG	0.502																																							0											0													190	189	190					2																	120932475		2203	4300	6503	SO:0001583	missense	0			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.2194G>A	2.37:g.120932475G>A	ENSP00000263713:p.Glu732Lys		Q7Z5S1|Q8IZ12|Q9H975	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.E732K	ENST00000263713.5	37	c.2194	CCDS2130.1	2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826908	0.90955	.	.	ENSG00000115109	ENST00000263713;ENST00000452780	D;D	0.87729	-2.25;-2.29	5.03	5.03	0.67393	.	0.000000	0.52532	D	0.000065	D	0.93058	0.7790	.	.	.	0.44194	D	0.997017	D;D	0.76494	0.993;0.999	D;D	0.80764	0.91;0.994	D	0.93370	0.6734	9	0.72032	D	0.01	.	14.0644	0.64819	0.0:0.0:1.0:0.0	.	731;732	Q9HCM4-3;Q9HCM4	.;E41L5_HUMAN	K	732;731	ENSP00000263713:E732K;ENSP00000390439:E731K	ENSP00000263713:E732K	E	+	1	0	EPB41L5	120648945	1.000000	0.71417	0.994000	0.49952	0.840000	0.47671	4.411000	0.59781	2.771000	0.95319	0.563000	0.77884	GAG	0	NULL		0.502	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	EPB41L5	protein_coding	OTTHUMT00000254230.2	58	180	0	0.00	0	0	G	NM_020909	0	0		120932475	1	no_errors	ENST00000263713	ensembl	human	known	74_37	missense	32	137	28.89	29.74	13	58	SNP	0.994	A	A	120932475	G	A	120932475	3	1	114	1	0	0	0	0	1	0	0	0	5157	1294	45	3	2473	3	EPB41L5	2	120932475	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	8077821	120932475	122266898	8	2198											
COL5A2	1290	genome.wustl.edu	37	chr2	189951463	189951463	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacttacttgctgtccttGtaaaccctgtggtccccttg	6	14	9	12	0	0	1	0	0	0	1	2	2	2	1	4	1	3	2	4	1	3	5			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr2:189951463G>C	ENST00000374866.3	-	9	953	c.679C>G	c.(679-681)Caa>Gaa	p.Q227E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	227					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)			TGCTGTCCTTGTAAACCCTGT	0.363																																							0											0													46	43	44					2																	189951463		2203	4297	6500	SO:0001583	missense	0			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.679C>G	2.37:g.189951463G>C	ENSP00000364000:p.Gln227Glu		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.Q227E	ENST00000374866.3	37	c.679	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142142	0.77775	.	.	ENSG00000204262	ENST00000374866	D	0.93426	-3.22	5.86	5.86	0.93980	.	0.000000	0.52532	D	0.000077	D	0.90386	0.6991	L	0.44542	1.39	0.41071	D	0.985456	P	0.38167	0.621	B	0.36845	0.234	D	0.89028	0.3440	9	.	.	.	.	17.1099	0.86673	0.0:0.0:1.0:0.0	.	227	P05997	CO5A2_HUMAN	E	227	ENSP00000364000:Q227E	.	Q	-	1	0	COL5A2	189659708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.050000	0.71063	2.771000	0.95319	0.563000	0.77884	CAA	0	pfam_Collagen		0.363	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	protein_coding	OTTHUMT00000313523.1	103	288	0	0.35	0	1	G	NM_000393	0	0		189951463	-1	no_errors	ENST00000374866	ensembl	human	known	74_37	missense	66	275	12	20.75	9	72	SNP	1	C	C	189951463	G	C	189951463	3	2	114	1	0	0	0	0	1	0	0	0	3697	1386	48	5	4004	5	COL5A2	2	189951463	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	69018988	189951463	53247910	9	2199											
IDH1	3417	genome.wustl.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	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)		0		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)											81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys		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	0	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	50	200	0	0.98	0	2	G		rs121913499	G->A,T		209113113	-1	no_errors	ENST00000345146	ensembl	human	known	74_37	missense	37	166	15.91	24.20	7	53	SNP	1	A	A	209113113	G	A	209113113	3	1	114	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	19161650	209113113	34086260	10	2200											
TGFBR2	7048	genome.wustl.edu	37	chr3	30733031	30733031	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcatctggacaggctctcGgggaggagctgctcggagga	8	6	18	9	2	2	0	0	0	2	0	4	6	2	5	0	7	3	4	0	7	0	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr3:30733031G>A	ENST00000295754.5	+	7	2026	c.1644G>A	c.(1642-1644)tcG>tcA	p.S548S	TGFBR2_ENST00000359013.4_Silent_p.S573S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	548					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						ACAGGCTCTCGGGGAGGAGCT	0.597																																							0											0													90	91	91					3																	30733031		2203	4300	6503	SO:0001819	synonymous_variant	0				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.1644G>A	3.37:g.30733031G>A			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.S573	ENST00000295754.5	37	c.1719	CCDS2648.1	3																																																																																			0	pirsf_Transform_growth_fac-b_typ-2		0.597	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	protein_coding	OTTHUMT00000252994.2	34	125	0	0.00	0	0	G		0	0		30733031	1	no_errors	ENST00000359013	ensembl	human	known	74_37	silent	21	153	38.24	20.31	13	39	SNP	0.021	A	A	30733031	G	A	30733031	2	1	114	1	0	0	0	0	0	0	0	1	15819	1103	39	2		2	TGFBR2	3	30733031	Silent	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09		30733031	167289399	11	2201											
RASSF1	11186	genome.wustl.edu	37	chr3	50369585	50369585	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcccactccacaggctcgtCctgcaagatgggccagcatg	8	7	10	16	1	0	1	0	0	0	1	4	1	3	1	4	2	2	3	4	2	1	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr3:50369585C>T	ENST00000357043.2	-	3	405	c.370G>A	c.(370-372)Gac>Aac	p.D124N	RASSF1_ENST00000327761.3_Splice_Site_p.D50N|RASSF1_ENST00000395126.3_5'UTR|RASSF1_ENST00000359365.4_Splice_Site_p.D120N					Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACAGGCTCGTCCTGCAAGATG	0.537																																							0											0													85	69	75					3																	50369585		2203	4300	6503	SO:0001630	splice_region_variant	0			AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.370-1G>A	3.37:g.50369585C>T				Missense_Mutation	SNP	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.D124N	ENST00000357043.2	37	c.370	CCDS2820.1	3	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100705	0.76983	.	.	ENSG00000068028	ENST00000327761;ENST00000357043;ENST00000359365	T;T;T	0.78126	2.66;-1.15;-1.14	5.66	5.66	0.87406	.	0.048357	0.85682	D	0.000000	T	0.80513	0.4637	L	0.53249	1.67	0.80722	D	1	P;D;B	0.55800	0.749;0.973;0.409	B;P;B	0.49528	0.393;0.614;0.082	T	0.80989	-0.1136	10	0.49607	T	0.09	-23.0345	18.3147	0.90215	0.0:1.0:0.0:0.0	.	120;124;50	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	N	50;124;120	ENSP00000333327:D50N;ENSP00000349547:D124N;ENSP00000352323:D120N	ENSP00000333327:D50N	D	-	1	0	RASSF1	50344589	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	7.547000	0.82146	2.667000	0.90743	0.462000	0.41574	GAC	0	NULL		0.537	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF1	protein_coding	OTTHUMT00000314304.1	77	151	0	0.00	0	0	C		0	0	Missense_Mutation	50369585	-1	no_errors	ENST00000357043	ensembl	human	known	74_37	missense	59	195	14.49	24.42	10	63	SNP	1	T	T	50369585	C	T	50369585	5	4	114	1	0	0	0	0	0	0	1	0	13084	869	30	3	680	3	RASSF1	3	50369585	Splice_Site	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	19636554	50369585	147652845	12	2202											
PHLDB2	90102	genome.wustl.edu	37	chr3	111685490	111685490	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaatattgctagaatagaAgaaatggagagacttttgaa	18	11	9	3	0	1	5	1	1	0	4	1	7	1	6	0	1	1	1	0	1	8	6			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr3:111685490A>G	ENST00000431670.2	+	14	3519	c.3108A>G	c.(3106-3108)gaA>gaG	p.E1036E	PHLDB2_ENST00000393925.3_Silent_p.E1036E|PHLDB2_ENST00000393923.3_Silent_p.E1020E|PHLDB2_ENST00000495180.1_Silent_p.E527E|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000481953.1_Silent_p.E993E|PHLDB2_ENST00000412622.1_Silent_p.E993E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1036						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						CTAGAATAGAAGAAATGGAGA	0.423																																							0											0													83	92	89					3																	111685490		2203	4300	6503	SO:0001819	synonymous_variant	0				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.3108A>G	3.37:g.111685490A>G			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1036	ENST00000431670.2	37	c.3108	CCDS46886.1	3																																																																																			0	NULL		0.423	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	44	155	0	0.00	0	0	A	NM_145753	0	0		111685490	1	no_errors	ENST00000393925	ensembl	human	known	74_37	silent	27	146	12.9	31.46	4	67	SNP	1	G	G	111685490	A	G	111685490	2	3	114	1	0	0	0	0	0	0	0	1	11852	69	3	4		4	PHLDB2	3	111685490	Silent	SNP	A	TCGA-ZB-A96V-01A-11D-A428-09	61315905	111685490	86336940	13	2203											
UBA5	79876	genome.wustl.edu	37	chr3	132379501	132379501	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggggcggccgggtccgcatCgagaagatgagctcagaggt	8	5	19	9	4	1	4	1	1	0	3	3	5	2	4	2	5	1	2	2	5	1	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr3:132379501C>G	ENST00000356232.4	+	1	1192	c.120C>G	c.(118-120)atC>atG	p.I40M	UBA5_ENST00000493720.2_Missense_Mutation_p.I40M|UBA5_ENST00000480955.1_3'UTR|UBA5_ENST00000473651.1_Missense_Mutation_p.I40M|ACAD11_ENST00000481970.2_5'Flank|ACAD11_ENST00000489991.1_5'Flank|ACAD11_ENST00000545291.1_5'Flank|ACAD11_ENST00000355458.3_5'Flank|UBA5_ENST00000494238.2_5'UTR|ACAD11_ENST00000264990.6_5'UTR|UBA5_ENST00000264991.4_Intron	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	40					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGGTCCGCATCGAGAAGATGA	0.687																																							0											0													33	36	35					3																	132379501		2177	4266	6443	SO:0001583	missense	0			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.120C>G	3.37:g.132379501C>G	ENSP00000348565:p.Ile40Met		A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.I40M	ENST00000356232.4	37	c.120	CCDS3076.1	3	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565151	0.65651	.	.	ENSG00000081307	ENST00000356232;ENST00000493720;ENST00000473651	D;D;D	0.84516	-1.86;-1.82;-1.79	4.83	1.03	0.20045	Molybdenum cofactor biosynthesis, MoeB (1);	0.051508	0.85682	D	0.000000	T	0.80204	0.4580	M	0.76574	2.34	0.80722	D	1	P;P	0.36048	0.534;0.49	B;B	0.35312	0.152;0.2	T	0.72724	-0.4207	10	0.62326	D	0.03	-1.4172	3.2487	0.06806	0.1421:0.5707:0.137:0.1501	.	40;40	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	M	40	ENSP00000348565:I40M;ENSP00000417879:I40M;ENSP00000424984:I40M	ENSP00000348565:I40M	I	+	3	3	UBA5	133862191	1.000000	0.71417	0.988000	0.46212	0.831000	0.47069	1.018000	0.30002	0.006000	0.14734	-0.268000	0.10319	ATC	0	superfamily_Molybdenum_cofac_synth_MoeB		0.687	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA5	protein_coding	OTTHUMT00000357187.2	54	67	0	0.00	0	0	C	NM_024818	0	0		132379501	1	no_errors	ENST00000356232	ensembl	human	known	74_37	missense	52	83	28.77	17.00	21	17	SNP	0.999	G	G	132379501	C	G	132379501	3	3	114	1	0	0	0	0	1	0	0	0	16827	874	31	5	122	5	UBA5	3	132379501	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	20694011	132379501	65642929	14	2204											
PLCH1	23007	genome.wustl.edu	37	chr3	155200470	155200470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaggacgcttcctgaCaagatgcttttcccttccac	10	11	8	12	1	0	3	0	2	0	2	3	5	3	4	3	1	1	2	3	1	2	4			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr3:155200470C>A	ENST00000340059.7	-	23	3368	c.3369G>T	c.(3367-3369)ttG>ttT	p.L1123F	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.L1085F|PLCH1_ENST00000460012.1_Missense_Mutation_p.L1085F|PLCH1_ENST00000414191.1_Missense_Mutation_p.L1085F|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1123					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)			CGCTTCCTGACAAGATGCTTT	0.463																																							0											0													93	88	89					3																	155200470		2203	4300	6503	SO:0001583	missense	0			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.3369G>T	3.37:g.155200470C>A	ENSP00000345988:p.Leu1123Phe		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.L1123F	ENST00000340059.7	37	c.3369	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237942	0.22711	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.25	-3.36	0.04913	.	3.376680	0.00550	N	0.000248	T	0.31575	0.0801	L	0.29908	0.895	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.15052	0.012;0.004	T	0.12811	-1.0533	10	0.42905	T	0.14	.	1.3617	0.02193	0.4246:0.2084:0.0913:0.2757	.	1085;1123	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	F	1085;1123;1085;1085	ENSP00000417502:L1085F;ENSP00000345988:L1123F;ENSP00000335469:L1085F;ENSP00000412977:L1085F	ENSP00000335469:L1085F	L	-	3	2	PLCH1	156683164	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-0.098000	0.11024	-0.276000	0.09206	-0.229000	0.12294	TTG	0	NULL		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	protein_coding	OTTHUMT00000351125.1	75	280	0	0.00	0	0	C	NM_014996	0	0		155200470	-1	no_errors	ENST00000340059	ensembl	human	known	74_37	missense	42	234	23.64	18.06	13	52	SNP	0	A	A	155200470	C	A	155200470	3	1	114	1	0	0	0	0	1	0	0	0	12037	477	17	5	1716	5	PLCH1	3	155200470	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	22820969	155200470	42821960	15	2205											
GPR125	166647	genome.wustl.edu	37	chr4	22456539	22456539	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtctgcattcagacatccTattcgattgtttgtcagatc	9	16	7	9	1	3	2	2	0	1	2	6	3	4	2	1	0	1	2	1	0	1	5			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr4:22456539T>G	ENST00000334304.5	-	4	692	c.423A>C	c.(421-423)atA>atC	p.I141I	GPR125_ENST00000502482.1_Silent_p.I141I|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	141					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)				TCAGACATCCTATTCGATTGT	0.388																																							0											0													140	128	132					4																	22456539		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.423A>C	4.37:g.22456539T>G			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.I141	ENST00000334304.5	37	c.423	CCDS33964.1	4																																																																																			0	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.388	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	protein_coding	OTTHUMT00000362960.3	94	287	0	0.00	0	0	T		0	0		22456539	-1	no_errors	ENST00000334304	ensembl	human	known	74_37	silent	50	191	24.24	29.82	16	82	SNP	1	G	G	22456539	T	G	22456539	2	3	114	1	0	0	0	0	0	0	0	1	6639	1512	53	5		5	GPR125	4	22456539	Silent	SNP	T	TCGA-ZB-A96V-01A-11D-A428-09		22456539	168697737	16	2206											
KLF3	51274	genome.wustl.edu	37	chr4	38696483	38696483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatggatgcaacaaagtgtAcactaaaagctcccacttga	15	9	8	9	0	0	2	0	2	0	0	1	3	1	3	1	1	4	3	1	1	5	3			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr4:38696483A>G	ENST00000261438.5	+	5	1117	c.812A>G	c.(811-813)tAc>tGc	p.Y271C		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	271					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AACAAAGTGTACACTAAAAGC	0.433																																							0											0													116	103	107					4																	38696483		2203	4300	6503	SO:0001583	missense	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.812A>G	4.37:g.38696483A>G	ENSP00000261438:p.Tyr271Cys		Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y271C	ENST00000261438.5	37	c.812	CCDS3444.1	4	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845355	0.91197	.	.	ENSG00000109787	ENST00000261438	T	0.36520	1.25	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.63988	0.2558	M	0.81614	2.55	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.68112	-0.5495	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	271	P57682	KLF3_HUMAN	C	271	ENSP00000261438:Y271C	ENSP00000261438:Y271C	Y	+	2	0	KLF3	38372878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TAC	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	protein_coding	OTTHUMT00000215093.2	113	270	0	0.37	0	1	A		0	0		38696483	1	no_errors	ENST00000261438	ensembl	human	known	74_37	missense	63	239	17.11	25.08	13	80	SNP	1	G	G	38696483	A	G	38696483	3	3	114	1	0	0	0	0	1	0	0	0	8347	391	14	3	826	3	KLF3	4	38696483	Missense_Mutation	SNP	A	TCGA-ZB-A96V-01A-11D-A428-09	16239944	38696483	152457793	17	2207											
GRIA2	2891	genome.wustl.edu	37	chr4	158242692	158242692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgttggtatctaaatttataGaaagatggtcaacactggaa	15	12	9	5	1	2	2	1	0	1	2	2	3	2	3	0	3	1	2	0	3	8	6			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr4:158242692G>C	ENST00000264426.9	+	6	1102	c.823G>C	c.(823-825)Gaa>Caa	p.E275Q	GRIA2_ENST00000449365.1_Missense_Mutation_p.E228Q|GRIA2_ENST00000296526.7_Missense_Mutation_p.E275Q|GRIA2_ENST00000393815.2_Missense_Mutation_p.E228Q|GRIA2_ENST00000507898.1_Missense_Mutation_p.E228Q	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	275					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|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)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|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)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TAAATTTATAGAAAGATGGTC	0.353																																							0											0													145	154	151					4																	158242692		2203	4300	6503	SO:0001583	missense	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.823G>C	4.37:g.158242692G>C	ENSP00000264426:p.Glu275Gln		A8MT92|I6L997|Q96FP6	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.E275Q	ENST00000264426.9	37	c.823	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	G	5.253	0.232061	0.09969	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.46	3.7	0.42460	Extracellular ligand-binding receptor (1);	0.059005	0.64402	D	0.000002	T	0.45135	0.1327	N	0.00263	-1.745	0.43069	D	0.994707	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.55153	-0.8185	10	0.02654	T	1	.	8.3261	0.32158	0.0975:0.3812:0.5213:0.0	.	275;275;228	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	Q	228;228;275;275;228	ENSP00000426845:E228Q;ENSP00000377403:E228Q;ENSP00000296526:E275Q;ENSP00000264426:E275Q;ENSP00000389837:E228Q	ENSP00000264426:E275Q	E	+	1	0	GRIA2	158462142	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.089000	0.64492	1.301000	0.44836	0.591000	0.81541	GAA	0	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.353	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	protein_coding	OTTHUMT00000258367.2	90	293	0	0.00	0	0	G		0	0		158242692	1	no_errors	ENST00000264426	ensembl	human	known	74_37	missense	38	213	40.62	22.83	26	63	SNP	1	C	C	158242692	G	C	158242692	3	2	114	1	0	0	0	0	1	0	0	0	6768	943	33	5	845	5	GRIA2	4	158242692	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	119546209	158242692	32911584	18	2208											
PCDHB2	56133	genome.wustl.edu	37	chr5	140476031	140476031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcgctggtgcgcgtgctgGtgctggacgccaacgacaac	7	6	16	12	5	0	0	0	0	0	0	0	2	0	1	1	4	5	3	1	4	2	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr5:140476031G>A	ENST00000194155.4	+	1	1805	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	553	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(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)			GCGCGTGCTGGTGCTGGACGC	0.731																																							0											0													23	25	25					5																	140476031		2196	4285	6481	SO:0001583	missense	0			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.1657G>A	5.37:g.140476031G>A	ENSP00000194155:p.Val553Met		Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V553M	ENST00000194155.4	37	c.1657	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977748	0.53720	.	.	ENSG00000112852	ENST00000194155	T	0.68181	-0.31	4.5	3.6	0.41247	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.84660	0.5521	H	0.95151	3.63	0.26226	N	0.979083	D	0.76494	0.999	D	0.71414	0.973	T	0.75459	-0.3310	9	0.87932	D	0	.	8.1078	0.30896	0.0856:0.161:0.7534:0.0	.	553	Q9Y5E7	PCDB2_HUMAN	M	553	ENSP00000194155:V553M	ENSP00000194155:V553M	V	+	1	0	PCDHB2	140456215	0.999000	0.42202	0.714000	0.30535	0.982000	0.71751	3.373000	0.52394	0.986000	0.38683	0.556000	0.70494	GTG	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.731	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	protein_coding	OTTHUMT00000251801.2	141	0	0.7	0.00	1	0	G	NM_018936	0	0		140476031	1	no_errors	ENST00000194155	ensembl	human	known	74_37	missense	92	3	19.3	0.00	22	0	SNP	0.496	A	A	140476031	G	A	140476031	3	1	114	1	0	0	0	0	1	0	0	0	11542	1261	44	3	1659	3	PCDHB2	5	140476031	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09		140476031	40439229	19	2209											
HIST1H2AD	3013	genome.wustl.edu	37	chr6	26199368	26199368	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtagttgcccttgcggAgcaagcggtgtacgcggccc	6	7	16	12	5	0	0	0	0	0	0	0	2	0	2	2	4	5	4	2	4	3	4			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr6:26199368A>T	ENST00000341023.1	-	1	103	c.104T>A	c.(103-105)cTc>cAc	p.L35H	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	35						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				GCCCTTGCGGAGCAAGCGGTG	0.687																																							0											0													25	29	28					6																	26199368		2203	4300	6503	SO:0001583	missense	0			Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"Histones / Replication-dependent"	4729	protein-coding gene	gene with protein product		602792	"H2A histone family, member G", "histone 1, H2ad"	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.104T>A	6.37:g.26199368A>T	ENSP00000341094:p.Leu35His		A0PK91|P57754|Q6FGY6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L35H	ENST00000341023.1	37	c.104	CCDS4591.1	6	.	.	.	.	.	.	.	.	.	.	.	12.65	2.002346	0.35320	.	.	ENSG00000196866	ENST00000341023	T	0.61274	0.12	4.61	4.61	0.57282	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.38111	U	0.001805	D	0.83968	0.5369	H	0.99642	4.675	0.35241	D	0.777784	D	0.89917	1.0	D	0.97110	1.0	D	0.91288	0.5057	10	0.87932	D	0	.	13.4598	0.61221	1.0:0.0:0.0:0.0	.	35	P20671	H2A1D_HUMAN	H	35	ENSP00000341094:L35H	ENSP00000341094:L35H	L	-	2	0	HIST1H2AD	26307347	1.000000	0.71417	0.207000	0.23584	0.004000	0.04260	9.090000	0.94144	1.832000	0.53329	0.533000	0.62120	CTC	0	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.687	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AD	protein_coding	OTTHUMT00000040100.1	35	43	0	0.00	0	0	A	NM_021065	0	0		26199368	-1	no_errors	ENST00000341023	ensembl	human	known	74_37	missense	18	50	21.74	19.05	5	12	SNP	1	T	T	26199368	A	T	26199368	3	4	114	1	0	0	0	0	1	0	0	0	7131	304	11	5	292	5	HIST1H2AD	6	26199368	Missense_Mutation	SNP	A	TCGA-ZB-A96V-01A-11D-A428-09		26199368	144915699	20	2210											
BAT4	7918	genome.wustl.edu	37	chr6	31630408	31630408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcgacagtgacagcaggtGagcagtggatgtgcggtggt	8	8	18	7	2	0	2	0	2	0	0	0	4	0	3	0	4	4	2	0	4	0	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr6:31630408G>A	ENST00000375906.1	-	4	1390	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	GPANK1_ENST00000375896.4_Missense_Mutation_p.H236Y|GPANK1_ENST00000375900.4_Missense_Mutation_p.H236Y|C6orf47-AS1_ENST00000422049.1_RNA|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375893.2_Missense_Mutation_p.H236Y|C6orf47_ENST00000375911.1_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375895.2_Missense_Mutation_p.H236Y	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	236							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GACAGCAGGTGAGCAGTGGAT	0.587																																							0											0													62	69	66					6																	31630408		1509	2707	4216	SO:0001583	missense	0				CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.706C>T	6.37:g.31630408G>A	ENSP00000365071:p.His236Tyr		A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom	p.H236Y	ENST00000375906.1	37	c.706	CCDS4711.1	6	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851058	0.71719	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	L	0.34521	1.04	0.58432	D	0.999996	B	0.34290	0.447	B	0.27262	0.078	T	0.26916	-1.0089	10	0.87932	D	0	-4.2057	15.4974	0.75666	0.0:0.0:1.0:0.0	.	236	O95872	GPAN1_HUMAN	Y	236	ENSP00000365071:H236Y;ENSP00000365060:H236Y;ENSP00000365057:H236Y;ENSP00000365059:H236Y;ENSP00000365065:H236Y	ENSP00000365057:H236Y	H	-	1	0	GPANK1	31738387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.190000	0.77755	2.519000	0.84933	0.655000	0.94253	CAC	0	NULL		0.587	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPANK1	protein_coding	OTTHUMT00000144445.2	23	118	0	0.84	0	1	G	NM_033177	0	0		31630408	-1	no_errors	ENST00000375893	ensembl	human	known	74_37	missense	12	138	25	21.02	4	37	SNP	1	A	A	31630408	G	A	31630408	3	1	114	1	0	0	0	0	1	0	0	0	1323	1290	45	3	368	3	BAT4	6	31630408	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	5431040	31630408	139484659	21	2211											
TAP1	6890	genome.wustl.edu	37	chr6	32820828	32820828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccttaccaagagaggagaGgaccaccaggaccaggaaca	15	2	11	13	0	0	2	0	0	0	2	0	7	0	5	6	4	2	0	6	4	3	1			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr6:32820828G>A	ENST00000354258.4	-	1	927	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	TAP1_ENST00000425148.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000453265.2_5'Flank|PSMB9_ENST00000374859.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	256	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGAGAGGAGAGGACCACCAGG	0.627																																							0											0													21	25	24					6																	32820828		1490	2692	4182	SO:0001583	missense	0				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.766C>T	6.37:g.32820828G>A	ENSP00000346206:p.Leu256Phe		Q16149|Q96CP4	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,prints_ABC_B2,tigrfam_Ag_transporter2	p.L256F	ENST00000354258.4	37	c.766	CCDS4758.1	6	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327975	0.24080	.	.	ENSG00000168394	ENST00000354258	D	0.91631	-2.88	4.53	1.31	0.21738	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	.	.	.	.	D	0.86834	0.6028	M	0.79475	2.455	0.51767	D	0.999935	P	0.35844	0.524	B	0.42112	0.376	D	0.84164	0.0430	9	0.72032	D	0.01	-3.2704	2.4795	0.04584	0.2746:0.0:0.4877:0.2378	.	256	Q03518	TAP1_HUMAN	F	256	ENSP00000346206:L256F	ENSP00000346206:L256F	L	-	1	0	TAP1	32928806	0.988000	0.35896	0.393000	0.26258	0.151000	0.21798	2.033000	0.41136	0.433000	0.26313	0.643000	0.83706	CTC	0	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2		0.627	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	protein_coding	OTTHUMT00000076087.2	41	159	0	0.62	0	1	G	NM_000593	0	0		32820828	-1	no_errors	ENST00000354258	ensembl	human	known	74_37	missense	24	168	35.14	20.00	13	42	SNP	0.279	A	A	32820828	G	A	32820828	3	1	114	1	0	0	0	0	1	0	0	0	15547	1000	35	3	1704	3	TAP1	6	32820828	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	1190420	32820828	138294239	22	2212											
AIM1	202	genome.wustl.edu	37	chr6	107003662	107003662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgggttgtatatgatggaGaaaatttcactggtaatcaa	13	13	11	4	0	2	2	2	1	0	1	2	3	2	2	0	3	0	4	0	3	6	5			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr6:107003662G>A	ENST00000369066.3	+	15	4868	c.4381G>A	c.(4381-4383)Gaa>Aaa	p.E1461K	AIM1_ENST00000535438.1_Missense_Mutation_p.E280K	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)		ATATGATGGAGAAAATTTCAC	0.428																																							0											0													226	211	216					6																	107003662		2203	4300	6503	SO:0001583	missense	0			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.4381G>A	6.37:g.107003662G>A	ENSP00000358062:p.Glu1461Lys		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.E1461K	ENST00000369066.3	37	c.4381	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207137	0.22205	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.76060	-0.99;-0.99;-0.99	5.35	5.35	0.76521	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.320203	0.37219	N	0.002194	T	0.65396	0.2687	L	0.53729	1.69	0.35186	D	0.772938	B;B	0.29766	0.256;0.115	B;B	0.40982	0.262;0.345	T	0.65142	-0.6240	10	0.30078	T	0.28	.	13.7089	0.62656	0.0741:0.0:0.9259:0.0	.	280;1461	B4DU04;Q9Y4K1	.;AIM1_HUMAN	K	1461;280;280	ENSP00000358062:E1461K;ENSP00000391419:E280K;ENSP00000439183:E280K	ENSP00000358062:E1461K	E	+	1	0	AIM1	107110355	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.231000	0.51294	2.665000	0.90641	0.650000	0.86243	GAA	0	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.428	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	protein_coding	OTTHUMT00000041669.1	97	315	0	0.32	0	1	G		0	0		107003662	1	no_errors	ENST00000369066	ensembl	human	known	74_37	missense	51	255	17.74	25.44	11	87	SNP	1	A	A	107003662	G	A	107003662	3	1	114	1	0	0	0	0	1	0	0	0	430	943	33	3	4439	3	AIM1	6	107003662	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	74182834	107003662	64111405	23	2213											
GIMAP8	155038	genome.wustl.edu	37	chr7	150174507	150174507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggacaaaacagctgtggCgaaactggaggccatctttg	13	7	13	8	1	1	1	0	0	1	1	1	4	1	3	1	4	3	1	1	4	3	1	rs146125013		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr7:150174507C>A	ENST00000307271.3	+	5	2211	c.1637C>A	c.(1636-1638)gCg>gAg	p.A546E		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	546	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)		ACAGCTGTGGCGAAACTGGAG	0.502																																							0											0																																										SO:0001583	missense	0			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.1637C>A	7.37:g.150174507C>A	ENSP00000305107:p.Ala546Glu			Missense_Mutation	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.A546E	ENST00000307271.3	37	c.1637	CCDS34777.1	7	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.912465	0.00508	.	.	ENSG00000171115	ENST00000307271	T	0.30714	1.52	4.44	-8.88	0.00789	AIG1 (1);	2.106440	0.02320	N	0.072931	T	0.09949	0.0244	N	0.04880	-0.145	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.22243	-1.0222	10	0.02654	T	1	.	1.7304	0.02931	0.1538:0.3584:0.1959:0.2918	.	546	Q8ND71	GIMA8_HUMAN	E	546	ENSP00000305107:A546E	ENSP00000305107:A546E	A	+	2	0	GIMAP8	149805440	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.851000	0.01669	-6.066000	0.00007	-1.292000	0.01352	GCG	0	pfam_AIG1,superfamily_P-loop_NTPase		0.502	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	protein_coding	OTTHUMT00000350701.1	48	245	0	0.00	0	0	C	NM_175571	0	0		150174507	1	no_errors	ENST00000307271	ensembl	human	known	74_37	missense	36	271	17.78	23.16	8	82	SNP	0	A	A	150174507	C	A	150174507	3	1	114	1	0	0	0	0	1	0	0	0	6385	768	27	5	1651	5	GIMAP8	7	150174507	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09		150174507	8964156	24	2214											
MTMR7	9108	genome.wustl.edu	37	chr8	17228600	17228600	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgtggcaatctctttcctGaggtatgatgagctgtatta	8	15	11	7	1	1	3	0	3	1	0	4	3	2	3	1	2	1	4	1	2	4	4			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr8:17228600G>A	ENST00000180173.5	-	3	290	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	MTMR7_ENST00000521857.1_Nonsense_Mutation_p.Q86*	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	86					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)		TCTCTTTCCTGAGGTATGATG	0.478																																							0											0													162	147	152					8																	17228600		2203	4300	6503	SO:0001587	stop_gained	0			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.256C>T	8.37:g.17228600G>A	ENSP00000180173:p.Gln86*		A1L4K9|B4DG87|Q68DX4	Nonsense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.Q86*	ENST00000180173.5	37	c.256	CCDS34851.1	8	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391097	0.82902	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	.	.	.	5.23	5.23	0.72850	.	0.176225	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	19.1829	0.93630	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	ENSP00000180173:Q86X	Q	-	1	0	MTMR7	17272971	1.000000	0.71417	0.965000	0.40720	0.421000	0.31385	5.128000	0.64733	2.602000	0.87976	0.655000	0.94253	CAG	0	NULL		0.478	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	protein_coding	OTTHUMT00000375311.1	50	194	0	0.00	0	0	G	NM_004686	0	0		17228600	-1	no_errors	ENST00000180173	ensembl	human	known	74_37	nonsense	44	188	12	14.09	6	31	SNP	0.999	A	A	17228600	G	A	17228600	4	1	114	1	0	0	0	0	0	1	0	0	9948	1299	45	3	1774	3	MTMR7	8	17228600	Nonsense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09		17228600	129135422	25	2215											
EPB49	2039	genome.wustl.edu	37	chr8	21938376	21938376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccctgtgtgctggagCagaaggtgaggggcagggga	7	6	19	9	0	0	2	0	1	0	1	0	4	0	4	2	6	3	3	2	6	1	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr8:21938376C>A	ENST00000523266.1	+	14	1480	c.1018C>A	c.(1018-1020)Cag>Aag	p.Q340K	DMTN_ENST00000443491.2_Intron|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000517600.1_Missense_Mutation_p.Q300K|DMTN_ENST00000265800.5_Missense_Mutation_p.Q340K|DMTN_ENST00000415253.1_Intron|DMTN_ENST00000519907.1_Intron|DMTN_ENST00000358242.3_Missense_Mutation_p.Q340K|DMTN_ENST00000381470.3_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.Q340K	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	340	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TGTGCTGGAGCAGAAGGTGAG	0.667																																							0											0													12	14	13					8																	21938376		2183	4250	6433	SO:0001583	missense	0			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.1018C>A	8.37:g.21938376C>A	ENSP00000427866:p.Gln340Lys		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.Q340K	ENST00000523266.1	37	c.1018	CCDS6020.1	8	.	.	.	.	.	.	.	.	.	.	C	5.156	0.214429	0.09810	.	.	ENSG00000158856	ENST00000432128;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000523266	T;T;T;T;T	0.42513	1.58;0.97;1.58;1.58;1.58	3.36	3.36	0.38483	Villin headpiece (3);	2.821210	0.02261	U	0.067565	T	0.32615	0.0835	L	0.28556	0.865	0.80722	D	1	B;B;B	0.30281	0.275;0.131;0.131	B;B;B	0.24541	0.051;0.054;0.022	T	0.15065	-1.0450	10	0.15499	T	0.54	.	10.3609	0.43994	0.0:1.0:0.0:0.0	.	279;300;340	E9PD40;B4DI75;Q08495	.;.;DEMA_HUMAN	K	340;300;300;340;279;340;340	ENSP00000416111:Q340K;ENSP00000430618:Q300K;ENSP00000265800:Q340K;ENSP00000350977:Q340K;ENSP00000427866:Q340K	ENSP00000265800:Q340K	Q	+	1	0	EPB49	21994322	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.389000	0.59639	1.890000	0.54733	0.305000	0.20034	CAG	0	superfamily_Villin_headpiece,pfscan_Villin_headpiece		0.667	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DMTN	protein_coding	OTTHUMT00000375178.1	18	19	0	0.00	0	0	C	NM_001978	0	0		21938376	1	no_errors	ENST00000265800	ensembl	human	known	74_37	missense	27	38	15.62	13.64	5	6	SNP	1	A	A	21938376	C	A	21938376	3	1	114	1	0	0	0	0	1	0	0	0	5159	711	25	5	1068	5	EPB49	8	21938376	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	4709776	21938376	124425646	26	2216											
C8orf44	56260	genome.wustl.edu	37	chr8	67589949	67589949	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attaacgtagttgaaatgagGaagaatgagagttatctcaa	17	11	10	3	1	1	4	1	3	1	2	2	6	1	5	0	1	1	3	0	1	7	4			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr8:67589949G>A	ENST00000519561.1	+	2	157	c.6G>A	c.(4-6)agG>agA	p.R2R	C8orf44_ENST00000521889.1_Silent_p.R2R|C8orf44-SGK3_ENST00000519289.1_Intron|C8orf44_ENST00000390159.3_Silent_p.R2R|C8orf44-SGK3_ENST00000520044.1_Intron	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	2						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTGAAATGAGGAAGAATGAGA	0.423																																							0											0													105	102	103					8																	67589949		2203	4300	6503	SO:0001819	synonymous_variant	0			AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.6G>A	8.37:g.67589949G>A			Q9NUM6	Silent	SNP	NULL	p.R2	ENST00000519561.1	37	c.6	CCDS6193.1	8																																																																																			0	NULL		0.423	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C8orf44	protein_coding	OTTHUMT00000379242.2	110	307	0	0.00	0	0	G	NM_019607	0	0		67589949	1	no_errors	ENST00000390159	ensembl	human	known	74_37	silent	128	387	13.51	14.19	20	64	SNP	0	A	A	67589949	G	A	67589949	2	1	114	1	0	0	0	0	0	0	0	1	2429	1165	41	3		3	C8orf44	8	67589949	Silent	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	45651573	67589949	78774073	27	2217											
PLEC	5339	genome.wustl.edu	37	chr8	144995484	144995484	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgcggttcatctcctcgtcGaagtagccgcgccggtaggc	6	8	13	14	7	2	0	1	0	1	0	5	1	2	0	3	3	1	3	3	3	3	3			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr8:144995484G>A	ENST00000322810.4	-	32	9085	c.8916C>T	c.(8914-8916)ttC>ttT	p.F2972F	PLEC_ENST00000356346.3_Silent_p.F2821F|PLEC_ENST00000398774.2_Silent_p.F2803F|PLEC_ENST00000527096.1_Silent_p.F2858F|PLEC_ENST00000357649.2_Silent_p.F2839F|PLEC_ENST00000354958.2_Silent_p.F2813F|PLEC_ENST00000345136.3_Silent_p.F2835F|PLEC_ENST00000354589.3_Silent_p.F2835F|PLEC_ENST00000436759.2_Silent_p.F2862F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2972	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						TCTCCTCGTCGAAGTAGCCGC	0.672																																							0											0													63	70	68					8																	144995484		2009	4159	6168	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8916C>T	8.37:g.144995484G>A			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.F2972	ENST00000322810.4	37	c.8916	CCDS43772.1	8																																																																																			0	pfam_Plectin_repeat,smart_Plectin_repeat		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	protein_coding	OTTHUMT00000383281.1	38	64	0	1.54	0	1	G	NM_000445	0	0		144995484	-1	no_errors	ENST00000322810	ensembl	human	known	74_37	silent	32	125	15.79	13.19	6	19	SNP	0.978	A	A	144995484	G	A	144995484	2	1	114	1	0	0	0	0	0	0	0	1	12052	1049	37	2		2	PLEC	8	144995484	Silent	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	77405535	144995484	1368538	28	2218											
NEUROG3	50674	genome.wustl.edu	37	chr10	71332555	71332555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccttctttcgccgactcCgtcgctgcttgctcagtgcc	2	13	10	16	4	2	0	1	0	1	0	5	1	3	0	4	1	3	3	4	1	0	3			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr10:71332555C>T	ENST00000242462.4	-	2	274	c.245G>A	c.(244-246)cGg>cAg	p.R82Q		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	82					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						TCGCCGACTCCGTCGCTGCTT	0.687																																							0											0													72	43	53					10																	71332555		2203	4300	6503	SO:0001583	missense	0			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.245G>A	10.37:g.71332555C>T	ENSP00000242462:p.Arg82Gln		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R82Q	ENST00000242462.4	37	c.245	CCDS31212.1	10	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993951	0.93167	.	.	ENSG00000122859	ENST00000242462	D	0.88277	-2.36	4.7	4.7	0.59300	Helix-loop-helix DNA-binding (2);	0.000000	0.37715	N	0.001976	D	0.89798	0.6819	L	0.32530	0.975	0.43688	D	0.996131	D	0.76494	0.999	D	0.64321	0.924	D	0.87168	0.2219	10	0.21014	T	0.42	-18.1296	16.3734	0.83374	0.0:1.0:0.0:0.0	.	82	Q9Y4Z2	NGN3_HUMAN	Q	82	ENSP00000242462:R82Q	ENSP00000242462:R82Q	R	-	2	0	NEUROG3	71002561	0.678000	0.27586	0.991000	0.47740	0.869000	0.49853	2.585000	0.46111	2.416000	0.81992	0.591000	0.81541	CGG	0	superfamily_bHLH_dom,pfscan_bHLH_dom		0.687	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG3	protein_coding	OTTHUMT00000048464.1	16	93	0	0.00	0	0	C	NM_020999	0	0		71332555	-1	no_errors	ENST00000242462	ensembl	human	known	74_37	missense	12	87	29.41	22.61	5	26	SNP	0.996	T	T	71332555	C	T	71332555	3	4	114	1	0	0	0	0	1	0	0	0	10354	652	23	2	403	2	NEUROG3	10	71332555	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09		71332555	64202192	29	2219											
GPR123	84435	genome.wustl.edu	37	chr10	134942643	134942643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggagcccgagtacgcCtaccacatcccatccagcct	10	5	9	17	2	0	1	0	0	0	1	2	3	2	2	6	1	4	2	6	1	2	2			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr10:134942643C>T	ENST00000392607.3	+	7	1747	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A	GPR123_ENST00000392606.2_Silent_p.A340A|GPR123_ENST00000607359.1_Silent_p.A1156A	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	437					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)		CCGAGTACGCCTACCACATCC	0.692																																							0											0													11	12	12					10																	134942643		2113	4159	6272	SO:0001819	synonymous_variant	0			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.1311C>T	10.37:g.134942643C>T			A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.A1156	ENST00000392607.3	37	c.3468	CCDS41580.1	10																																																																																			0	NULL		0.692	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	protein_coding	OTTHUMT00000051113.2	17	59	0	0.00	0	0	C		0	0		134942643	1	no_errors	ENST00000607359	ensembl	human	putative	74_37	silent	10	66	41.18	16.25	7	13	SNP	1	T	T	134942643	C	T	134942643	2	4	114	1	0	0	0	0	0	0	0	1	6637	668	24	3		3	GPR123	10	134942643	Silent	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	63610088	134942643	592104	30	2220											
CYP2E1	1571	genome.wustl.edu	37	chr10	135341999	135341999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcagttggcccagcgcttCgggccggtgttcacgctgta	4	9	14	14	5	1	0	1	0	0	0	2	0	1	0	3	3	1	6	3	3	1	4			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr10:135341999C>T	ENST00000463117.2	+	4	464	c.192C>T	c.(190-192)ttC>ttT	p.F64F	CYP2E1_ENST00000252945.3_Silent_p.F64F|AL161645.2_ENST00000599428.1_Intron|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000480558.1_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	64					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)	CCCAGCGCTTCGGGCCGGTGT	0.667									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																														0											0													46	42	43					10																	135341999		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	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.192C>T	10.37:g.135341999C>T			Q5VZD5|Q6NWT9|Q9UK47	Silent	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.F64	ENST00000463117.2	37	c.192	CCDS7686.1	10																																																																																			0	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.667	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	protein_coding	OTTHUMT00000051161.2	66	59	0	0.00	0	0	C	NM_000773	0	0		135341999	1	no_errors	ENST00000252945	ensembl	human	known	74_37	silent	27	50	30.77	27.54	12	19	SNP	0.002	T	T	135341999	C	T	135341999	2	4	114	1	0	0	0	0	0	0	0	1	4170	883	31	2		2	CYP2E1	10	135341999	Silent	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	399356	135341999	192748	31	2221											
SOX6	55553	genome.wustl.edu	37	chr11	16068114	16068114	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatggaggacagtttcccGtcaacaccatgtggctgttg	8	13	11	9	1	1	0	1	0	0	0	2	2	2	2	2	3	1	3	2	3	2	4	rs369713124		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr11:16068114G>A	ENST00000352083.6	-	12	1646	c.1569C>T	c.(1567-1569)gaC>gaT	p.D523D	SOX6_ENST00000528252.1_Silent_p.D496D|SOX6_ENST00000528429.1_Silent_p.D523D|SOX6_ENST00000527619.1_Silent_p.D499D|SOX6_ENST00000396356.3_Silent_p.D523D|SOX6_ENST00000316399.6_Silent_p.D523D			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	523					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						ACAGTTTCCCGTCAACACCAT	0.498													G|||	1	0.000199681	0	0	5008	,	,		19099	0		0	False		,,,				2504	0.001						0.9998,0.0001997											0								G	,,,	0,4400		0,0,2200	134	119	124		1488,1608,1497,1569	-1.9	1	11		124	2,8586	2.2+/-6.3	0,2,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SOX6	NM_001145811.1,NM_001145819.1,NM_017508.2,NM_033326.3	,,,	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	,,,	496/802,536/842,499/805,523/809	16068114	2,12986	2200	4294	6494	SO:0001819	synonymous_variant	0			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.1569C>T	11.37:g.16068114G>A			Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.D523	ENST00000352083.6	37	c.1569		11																																																																																			0	NULL		0.498	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	protein_coding	OTTHUMT00000386811.1	38	243	0	0.00	0	0	G	NM_033326	rs369713124	G->A		16068114	-1	no_errors	ENST00000352083	ensembl	human	known	74_37	silent	19	207	26.92	22.01	7	59	SNP	0.994	A	A	16068114	G	A	16068114	2	1	114	1	0	0	0	0	0	0	0	1	14955	1136	40	1		1	SOX6	11	16068114	Silent	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09		16068114	118938402	32	2222											
UEVLD	55293	genome.wustl.edu	37	chr11	18554026	18554026	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacttcactatttatatcAtaatatccctgaaatgagaa	17	13	3	8	0	2	2	2	2	0	1	3	3	3	2	1	0	1	0	1	0	8	7			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr11:18554026A>T	ENST00000541984.1	-	7	660	c.598T>A	c.(598-600)Tga>Aga	p.*200R	UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000396197.3_Nonsense_Mutation_p.Y419*|UEVLD_ENST00000535484.1_Missense_Mutation_p.M340K|UEVLD_ENST00000543987.1_Missense_Mutation_p.M378K|UEVLD_ENST00000320750.6_Missense_Mutation_p.M356K|UEVLD_ENST00000379387.4_Nonsense_Mutation_p.Y397*	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TATTTATATCATAATATCCCT	0.313																																							0											0													66	61	63					11																	18554026		2199	4293	6492	SO:0001578	stop_lost	0			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.598T>A	11.37:g.18554026A>T				Nonsense_Mutation	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.Y419*	ENST00000541984.1	37	c.1257	CCDS58125.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	26.1|26.1|26.1	4.702549|4.702549|4.702549	0.88924|0.88924|0.88924	.|.|.	.|.|.	ENSG00000151116|ENSG00000151116|ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000320750|ENST00000541984|ENST00000396197;ENST00000379387;ENST00000540110	D;D;D|.|.	0.81996|.|.	-1.56;-1.56;-1.56|.|.	5.44|5.44|5.44	4.32|4.32|4.32	0.51571|0.51571|0.51571	.|.|.	.|.|0.347399	.|.|0.26669	.|.|U	.|.|0.023117	T|.|.	0.63212|.|.	0.2492|.|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B|.|.	0.16166|.|.	0.016;0.004|.|.	B;B|.|.	0.13407|.|.	0.009;0.009|.|.	T|.|.	0.64183|.|.	-0.6467|.|.	8|.|.	0.72032|.|0.87932	D|.|D	0.01|.|0	-8.261|-8.261|-8.261	6.6139|6.6139|6.6139	0.22766|0.22766|0.22766	0.7736:0.0:0.2264:0.0|0.7736:0.0:0.2264:0.0|0.7736:0.0:0.2264:0.0	.|.|.	356;378|.|.	Q8IX04-3;Q8IX04-2|.|.	.;.|.|.	K|R|X	378;340;356|200|419;397;196	ENSP00000442974:M378K;ENSP00000441092:M340K;ENSP00000323353:M356K|.|.	ENSP00000323353:M356K|.|ENSP00000368697:Y397X	M|X|Y	-|-|-	2|1|3	0|0|2	UEVLD|UEVLD|UEVLD	18510602|18510602|18510602	0.996000|0.996000|0.996000	0.38824|0.38824|0.38824	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.854000|0.854000|0.854000	0.48673|0.48673|0.48673	1.962000|1.962000|1.962000	0.40442|0.40442|0.40442	0.908000|0.908000|0.908000	0.36671|0.36671|0.36671	-0.256000|-0.256000|-0.256000	0.11100|0.11100|0.11100	ATG|TGA|TAT	0	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C		0.313	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	UEVLD	protein_coding	OTTHUMT00000395928.1	65	316	0	0.00	0	0	A	NM_018314	0	0		18554026	-1	no_errors	ENST00000396197	ensembl	human	known	74_37	nonsense	44	305	8.33	4.98	4	16	SNP	1	T	T	18554026	A	T	18554026	4	4	114	1	0	0	0	0	0	0	0	0	16930	227	8	5	162	5	UEVLD	11	18554026	Nonstop_Mutation	SNP	A	TCGA-ZB-A96V-01A-11D-A428-09	2485912	18554026	116452490	33	2223											
OPCML	4978	genome.wustl.edu	37	chr11	132307151	132307151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactttccgcacatcgggcGcagcgacatcgttcaacgcg	8	9	10	14	7	1	0	1	0	0	0	4	1	2	0	1	1	3	3	1	1	2	3			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr11:132307151G>C	ENST00000331898.7	-	4	1207	c.629C>G	c.(628-630)gCg>gGg	p.A210G	OPCML_ENST00000524381.1_Missense_Mutation_p.A203G|OPCML_ENST00000541867.1_Missense_Mutation_p.A210G|OPCML_ENST00000374778.4_Missense_Mutation_p.A169G|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	210	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)		CACATCGGGCGCAGCGACATC	0.552																																							0											0													128	112	118					11																	132307151		2201	4297	6498	SO:0001583	missense	0			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.629C>G	11.37:g.132307151G>C	ENSP00000330862:p.Ala210Gly		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.A210G	ENST00000331898.7	37	c.629	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582864	0.46006	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.82	5.82	0.92795	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.358195	0.32401	N	0.006160	T	0.59729	0.2215	M	0.67517	2.055	0.36605	D	0.87486	P;P;P;P	0.44241	0.793;0.829;0.683;0.683	P;P;P;P	0.48030	0.564;0.527;0.564;0.564	T	0.66756	-0.5843	10	0.44086	T	0.13	-15.9995	14.2847	0.66238	0.0729:0.0:0.9271:0.0	.	210;203;209;210	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	G	210;203;169;177;210	ENSP00000330862:A210G;ENSP00000434750:A203G;ENSP00000363910:A169G;ENSP00000445496:A210G	ENSP00000330862:A210G	A	-	2	0	OPCML	131812361	1.000000	0.71417	0.923000	0.36655	0.016000	0.09150	5.059000	0.64306	2.756000	0.94617	0.563000	0.77884	GCG	0	smart_Ig_sub,pfscan_Ig-like_dom		0.552	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	protein_coding	OTTHUMT00000374689.3	25	121	0	0.00	0	0	G	NM_001012393	0	0		132307151	-1	no_errors	ENST00000541867	ensembl	human	known	74_37	missense	18	162	35.71	19.12	10	39	SNP	0.974	C	C	132307151	G	C	132307151	3	2	114	1	0	0	0	0	1	0	0	0	10874	1087	38	5	424	5	OPCML	11	132307151	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	113753125	132307151	2699365	34	2224											
ANKS1B	56899	genome.wustl.edu	37	chr12	99640643	99640643	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgtcgggagaggtcatCtgcaaaaggaaggaagggat	13	7	15	6	1	2	1	1	0	1	1	4	5	3	4	1	5	1	1	1	5	4	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr12:99640643C>T	ENST00000547776.2	-	13	1756		c.e13-1		ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000550833.1_Splice_Site|ANKS1B_ENST00000547010.1_Splice_Site	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							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)		GAGAGGTCATCTGCAAAAGGA	0.473																																							0											0													106	102	103					12																	99640643		1891	4094	5985	SO:0001630	splice_region_variant	0			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.1757-1G>A	12.37:g.99640643C>T			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Splice_Site	SNP	0	e13-1	ENST00000547776.2	37	c.1757-1	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911494	0.33721	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2736	0.49153	0.0:0.9165:0.0:0.0835	.	.	.	.	.	-1	.	.	.	-	.	.	ANKS1B	98164774	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	4.543000	0.60684	2.882000	0.98803	0.655000	0.94253	.	0	0		0.473	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	protein_coding	OTTHUMT00000408421.3	48	291	0	0.00	0	0	C	NM_020140	0	0	Intron	99640643	-1	no_errors	ENST00000329257	ensembl	human	known	74_37	splice_site	44	274	10.2	26.15	5	97	SNP	1	T	T	99640643	C	T	99640643	5	4	114	1	0	0	0	0	0	0	1	0	689	927	32	3	2334	3	ANKS1B	12	99640643	Splice_Site	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09		99640643	34211252	35	2225											
MYBPC1	4604	genome.wustl.edu	37	chr12	102046903	102046903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatattctagatcctcctaaGatcatcctggatggtcttga	11	14	7	9	0	3	3	1	1	2	2	6	4	6	4	3	2	0	0	3	2	4	5			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr12:102046903G>A	ENST00000550270.1	+	16	1569	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	MYBPC1_ENST00000361466.2_Silent_p.K548K|MYBPC1_ENST00000541119.1_Silent_p.K511K|MYBPC1_ENST00000441232.1_Silent_p.K523K|MYBPC1_ENST00000547509.1_Silent_p.K509K|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000452455.2_Silent_p.K523K|MYBPC1_ENST00000551300.1_Silent_p.K424K|MYBPC1_ENST00000549145.1_Silent_p.K536K|MYBPC1_ENST00000545503.2_Silent_p.K523K|MYBPC1_ENST00000360610.2_Silent_p.K523K|MYBPC1_ENST00000361685.2_Silent_p.K548K|MYBPC1_ENST00000536007.1_Silent_p.K504K|MYBPC1_ENST00000547405.1_Silent_p.K497K|MYBPC1_ENST00000553190.1_Silent_p.K523K|MYBPC1_ENST00000392934.3_Silent_p.K510K|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	523	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATCCTCCTAAGATCATCCTGG	0.418																																							0											0													110	100	103					12																	102046903		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1569G>A	12.37:g.102046903G>A			B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	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.K548	ENST00000550270.1	37	c.1644	CCDS9085.1	12																																																																																			0	pfscan_Ig-like_dom		0.418	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	protein_coding	OTTHUMT00000408806.1	27	208	0	0.00	0	0	G		0	0		102046903	1	no_errors	ENST00000361466	ensembl	human	known	74_37	silent	24	170	25	20.47	8	44	SNP	0.995	A	A	102046903	G	A	102046903	2	1	114	1	0	0	0	0	0	0	0	1	10011	933	33	3		3	MYBPC1	12	102046903	Silent	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	2406260	102046903	31804992	36	2226											
C12orf51	283450	genome.wustl.edu	37	chr12	112717046	112717046	+	Frame_Shift_Del	DEL	A	A	-																															acttactttttaaagatgacAaaccacttgttccaccaaaa																										TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr12:112717046delA	ENST00000430131.2	-	9	1636	c.491delT	c.(490-492)ttgfs	p.L164fs	HECTD4_ENST00000550722.1_Frame_Shift_Del_p.L414fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.L414fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	164					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)										TAAAGATGACAAACCACTTGT	0.408																																							0											0													72	72	72					12																	112717046		1852	4089	5941	SO:0001589	frameshift_variant	0			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.491delT	12.37:g.112717046delA	ENSP00000404379:p.Leu164fs		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Del	DEL	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.L414fs	ENST00000430131.2	37	c.1241		12																																																																																			0	NULL		0.408	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		102	313	0	0.00	0	0	A	NM_173813	0	0		112717046	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	frame_shift_del	46	293	25.81	16.52	16	58	DEL	1	0	-	112717046	A	-	112717046	7	5	114	1	0	1	0	1	0	0	0	0	1696	131	5	0	11767	0	C12orf51	12	112717046	Frame_Shift_Del	DEL	A	TCGA-ZB-A96V-01A-11D-A428-09	10670143	112717046	21134849	37	2227											
RNF10	9921	genome.wustl.edu	37	chr12	121013751	121013751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctacttcagatcccctctCtggtaagggcagaggctgga	9	9	12	11	0	2	2	1	0	1	2	4	3	3	3	2	4	2	4	2	4	2	3			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr12:121013751C>G	ENST00000325954.4	+	16	2818	c.2357C>G	c.(2356-2358)tCt>tGt	p.S786C	RNF10_ENST00000542701.1_3'UTR|RNF10_ENST00000413266.2_Missense_Mutation_p.S791C	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	786					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATCCCCTCTCTGGTAAGGGC	0.502																																							0											0													108	110	109					12																	121013751		2203	4300	6503	SO:0001583	missense	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2357C>G	12.37:g.121013751C>G	ENSP00000322242:p.Ser786Cys		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S791C	ENST00000325954.4	37	c.2372	CCDS9201.1	12	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779055	0.70107	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000538254	D;D	0.90004	-2.6;-2.6	5.62	5.62	0.85841	.	0.439403	0.25987	N	0.027035	D	0.89993	0.6876	L	0.48642	1.525	0.46167	D	0.9989	D;D	0.67145	0.996;0.993	P;P	0.59288	0.855;0.72	D	0.89087	0.3480	10	0.48119	T	0.1	.	10.1503	0.42788	0.0:0.8534:0.0:0.1466	.	791;786	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	C	786;786;791;121	ENSP00000322242:S786C;ENSP00000415682:S791C	ENSP00000322242:S786C	S	+	2	0	RNF10	119498134	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.594000	0.61041	2.648000	0.89879	0.650000	0.86243	TCT	0	NULL		0.502	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	protein_coding	OTTHUMT00000401898.4	34	205	0	0.00	0	0	C		0	0		121013751	1	no_errors	ENST00000413266	ensembl	human	known	74_37	missense	11	188	31.25	21.34	5	51	SNP	1	G	G	121013751	C	G	121013751	3	3	114	1	0	0	0	0	1	0	0	0	13422	913	32	5	2419	5	RNF10	12	121013751	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	8296705	121013751	12838144	38	2228											
COL4A2	1284	genome.wustl.edu	37	chr13	111164485	111164485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgacacgctcaaggccGgcctcatccgcacacacatc	9	4	8	20	5	2	0	2	0	0	0	4	1	3	0	5	2	0	2	5	2	1	0	rs202178258		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr13:111164485G>A	ENST00000360467.5	+	48	5392	c.5086G>A	c.(5086-5088)Ggc>Agc	p.G1696S		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1696	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)			GCTCAAGGCCGGCCTCATCCG	0.602													G|||	1	0.000199681	0	0.0014	5008	,	,		14207	0		0	False		,,,				2504	0						0.9998,0.0001997											0													31	37	35					13																	111164485		2070	4209	6279	SO:0001583	missense	0			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.5086G>A	13.37:g.111164485G>A	ENSP00000353654:p.Gly1696Ser		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1696S	ENST00000360467.5	37	c.5086	CCDS41907.1	13	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	36	5.975260	0.97162	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94687	-3.49	4.91	4.91	0.64330	C-type lectin fold (1);	0.000000	0.52532	D	0.000071	D	0.93769	0.8008	L	0.34521	1.04	0.80722	D	1	P	0.44241	0.829	P	0.50791	0.65	D	0.94074	0.7338	10	0.49607	T	0.09	.	18.1115	0.89537	0.0:0.0:1.0:0.0	.	1696	P08572	CO4A2_HUMAN	S	1696	ENSP00000353654:G1696S	ENSP00000257309:G1696S	G	+	1	0	COL4A2	109962486	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.406000	0.97321	2.258000	0.74832	0.561000	0.74099	GGC	0	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC		0.602	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	protein_coding	OTTHUMT00000045761.2	66	56	0	0.00	0	0	G	NM_001846	rs202178258	G->A		111164485	1	no_errors	ENST00000360467	ensembl	human	known	74_37	missense	45	49	19.3	23.44	11	15	SNP	1	A	A	111164485	G	A	111164485	3	1	114	1	0	0	0	0	1	0	0	0	3690	1116	39	2	5272	2	COL4A2	13	111164485	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09		111164485	4005393	39	2229											
LGMN	5641	genome.wustl.edu	37	chr14	93178266	93178266	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtaacaggcgtaggaCgactctctggggttggcagc	9	9	14	9	2	2	0	1	0	1	0	3	2	2	1	0	5	2	4	0	5	3	4			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr14:93178266C>T	ENST00000393218.2	-	10	982	c.645G>A	c.(643-645)tcG>tcA	p.S215S	LGMN_ENST00000555699.1_Silent_p.S215S|LGMN_ENST00000557434.1_Silent_p.S215S|LGMN_ENST00000334869.4_Silent_p.S215S	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	215					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)	p.S215S(1)		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)		AGGCGTAGGACGACTCTCTGG	0.488																																							0											1	Substitution - coding silent(1)	large_intestine(1)											80	76	77					14																	93178266		2203	4300	6503	SO:0001819	synonymous_variant	0			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.645G>A	14.37:g.93178266C>T			O00123|Q86TV2|Q86TV3|Q9BTY1	Silent	SNP	pfam_Peptidase_C13,prints_Peptidase_C13	p.S215	ENST00000393218.2	37	c.645	CCDS9904.1	14																																																																																			0	pfam_Peptidase_C13		0.488	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LGMN	protein_coding	OTTHUMT00000412288.1	48	140	0	1.41	0	2	C	NM_005606	0	0		93178266	-1	no_errors	ENST00000334869	ensembl	human	known	74_37	silent	34	139	22.73	16.77	10	28	SNP	0.007	T	T	93178266	C	T	93178266	2	4	114	1	0	0	0	0	0	0	0	1	8755	523	19	1		1	LGMN	14	93178266	Silent	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09		93178266	14171274	40	2230											
LDHAL6B	92483	genome.wustl.edu	37	chr15	59499262	59499262	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcccgctcaacggcacCtggctcttcacccccgtgag	6	7	9	19	4	3	1	2	1	1	0	4	1	4	1	4	2	1	4	4	2	1	1			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr15:59499262C>A	ENST00000307144.4	+	1	221	c.123C>A	c.(121-123)acC>acA	p.T41T	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	41					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						TCAACGGCACCTGGCTCTTCA	0.587																																							0											0													74	66	69					15																	59499262		2191	4290	6481	SO:0001819	synonymous_variant	0			AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"lactate dehydrogenase A-like 6"	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.123C>A	15.37:g.59499262C>A			Q6DUY4|Q96LI2	Silent	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.T41	ENST00000307144.4	37	c.123	CCDS10171.1	15																																																																																			0	NULL		0.587	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHAL6B	protein_coding	OTTHUMT00000256015.1	44	52	0	1.89	0	1	C	NM_033195	0	0		59499262	1	no_errors	ENST00000307144	ensembl	human	known	74_37	silent	13	38	18.75	17.39	3	8	SNP	0.089	A	A	59499262	C	A	59499262	2	1	114	1	0	0	0	0	0	0	0	1	8700	668	24	5		5	LDHAL6B	15	59499262	Silent	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09		59499262	43032130	41	2231											
CLCN7	1186	genome.wustl.edu	37	chr16	1497080	1497080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttgaacacccgtgggagcGacgcctcctgcagcaggggc	7	5	15	14	3	0	1	0	1	0	0	1	3	1	2	3	3	4	3	3	3	1	1	rs140032494		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr16:1497080G>A	ENST00000382745.4	-	24	2863	c.2258C>T	c.(2257-2259)tCg>tTg	p.S753L	CLCN7_ENST00000262318.8_Silent_p.V729V|CLCN7_ENST00000448525.1_Missense_Mutation_p.S729L|CCDC154_ENST00000389176.3_5'Flank|CCDC154_ENST00000409671.1_5'Flank|LA16c-390E6.5_ENST00000566287.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	753	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)				CCGTGGGAGCGACGCCTCCTG	0.716																																							0											0								G	LEU/SER,LEU/SER	1,4349		0,1,2174	18	19	19		2186,2258	5.1	0.1	16	dbSNP_134	19	0,8564		0,0,4282	no	missense,missense	CLCN7	NM_001114331.1,NM_001287.4	145,145	0,1,6456	AA,AG,GG		0.0,0.023,0.0077	probably-damaging,probably-damaging	729/782,753/806	1497080	1,12913	2175	4282	6457	SO:0001583	missense	0			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.2258C>T	16.37:g.1497080G>A	ENSP00000372193:p.Ser753Leu		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.S753L	ENST00000382745.4	37	c.2258	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790611	0.50102	2.3E-4	0.0	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.95001	-3.58;-3.58	5.12	5.12	0.69794	Cystathionine beta-synthase, core (3);	0.050958	0.85682	D	0.000000	D	0.97111	0.9056	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.969;0.998;0.972	D	0.97713	1.0192	10	0.72032	D	0.01	-25.7222	17.12	0.86699	0.0:0.0:1.0:0.0	.	729;753;202	E9PDB9;P51798;B3KUD9	.;CLCN7_HUMAN;.	L	729;706;753;695	ENSP00000410907:S729L;ENSP00000372193:S753L	ENSP00000262318:S706L	S	-	2	0	CLCN7	1437081	1.000000	0.71417	0.099000	0.21106	0.024000	0.10985	9.692000	0.98682	2.370000	0.80446	0.561000	0.74099	TCG	0	pfam_CBS_dom,smart_CBS_dom		0.716	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	protein_coding	OTTHUMT00000103598.2	46	60	0	0.00	0	0	G	NM_001287	rs140032494	G->A		1497080	-1	no_errors	ENST00000382745	ensembl	human	known	74_37	missense	30	73	16.67	23.16	6	22	SNP	0.993	A	A	1497080	G	A	1497080	3	1	114	1	0	0	0	0	1	0	0	0	3468	1059	37	2	167	2	CLCN7	16	1497080	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09		1497080	88857673	42	2232											
KIAA0430	9665	genome.wustl.edu	37	chr16	15706472	15706472	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttggagtatccgtagtctGacactcggcactgctttgca	7	12	11	11	2	1	1	0	1	1	0	3	2	2	2	1	2	2	6	1	2	2	4			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr16:15706472G>C	ENST00000396368.3	-	17	3622	c.3416C>G	c.(3415-3417)tCa>tGa	p.S1139*	KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.S974*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.S1136*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.S1136*|KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.S741*|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.S1139*	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1139	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGTAGTCTGACACTCGGCA	0.453																																							0											0													177	177	177					16																	15706472		2038	4214	6252	SO:0001587	stop_gained	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3416C>G	16.37:g.15706472G>C	ENSP00000379654:p.Ser1139*		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Nonsense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.S1139*	ENST00000396368.3	37	c.3416	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	42	9.676047	0.99236	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.5965	0.95541	0.0:0.0:1.0:0.0	.	.	.	.	X	1139;974;1079;741;1136;1139;919	.	ENSP00000315718:S1079X	S	-	2	0	KIAA0430	15613973	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.951000	0.93025	2.627000	0.88993	0.643000	0.83706	TCA	0	NULL		0.453	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	protein_coding	OTTHUMT00000252131.2	61	195	0	0.00	0	0	G	NM_014647	0	0		15706472	-1	no_errors	ENST00000396368	ensembl	human	known	74_37	nonsense	43	206	15.69	8.00	8	18	SNP	1	C	C	15706472	G	C	15706472	4	2	114	1	0	0	0	0	0	1	0	0	8177	1294	45	5	1856	5	KIAA0430	16	15706472	Nonsense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	14209392	15706472	74648281	43	2233											
CCDC101	112869	genome.wustl.edu	37	chr16	28602116	28602116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacaccctgagccggcgcCgtgtcatcccgctgccccag	6	5	11	19	4	1	1	1	1	0	0	2	2	2	1	6	1	2	1	6	1	0	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr16:28602116C>T	ENST00000317058.3	+	9	812	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	209	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						GAGCCGGCGCCGTGTCATCCC	0.647																																							0											0													47	46	46					16																	28602116		2197	4300	6497	SO:0001583	missense	0			AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"SAGA-associated factor 29 homolog (yeast)"	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.625C>T	16.37:g.28602116C>T	ENSP00000316114:p.Arg209Cys		Q96MF5	Missense_Mutation	SNP	pfam_SGF29_tudor-like_dom	p.R209C	ENST00000317058.3	37	c.625	CCDS10635.1	16	.	.	.	.	.	.	.	.	.	.	.	15.40	2.821938	0.50633	.	.	ENSG00000176476	ENST00000317058	.	.	.	5.41	2.33	0.28932	SGF29 tudor-like domain (2);	0.000000	0.64402	D	0.000001	T	0.66636	0.2809	L	0.59912	1.85	0.40454	D	0.980171	D	0.89917	1.0	D	0.75484	0.986	T	0.62548	-0.6831	9	0.39692	T	0.17	.	7.7526	0.28907	0.2879:0.6342:0.0:0.0779	.	209	Q96ES7	SGF29_HUMAN	C	209	.	ENSP00000316114:R209C	R	+	1	0	CCDC101	28509617	0.995000	0.38212	0.275000	0.24674	0.603000	0.37013	1.763000	0.38461	0.246000	0.21394	-0.181000	0.13052	CGT	0	pfam_SGF29_tudor-like_dom		0.647	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC101	protein_coding	OTTHUMT00000254691.1	32	122	0	0.00	0	0	C	NM_138414	0	0		28602116	1	no_errors	ENST00000317058	ensembl	human	known	74_37	missense	19	143	13.64	18.64	3	33	SNP	0.186	T	T	28602116	C	T	28602116	3	4	114	1	0	0	0	0	1	0	0	0	2735	652	23	2	655	2	CCDC101	16	28602116	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	12895644	28602116	61752637	44	2234											
CYLD	1540	genome.wustl.edu	37	chr16	50811826	50811826	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaaccacaatccaaatCaaaaaatacatggtacattg	19	8	3	11	0	2	0	2	0	0	0	3	0	3	0	2	1	3	1	2	1	8	3			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr16:50811826C>A	ENST00000427738.3	+	7	1317	c.1112C>A	c.(1111-1113)tCa>tAa	p.S371*	CYLD_ENST00000311559.9_Nonsense_Mutation_p.S371*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000540145.1_Nonsense_Mutation_p.S371*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S368*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	371	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)	p.S371*(1)		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)				CAATCCAAATCAAAAAATACA	0.313			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														0	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	1	Substitution - Nonsense(1)	skin(1)	GRCh37	CM001113	CYLD	M							86	80	82					16																	50811826		1815	4063	5878	SO:0001587	stop_gained	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	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.1112C>A	16.37:g.50811826C>A	ENSP00000392025:p.Ser371*		O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67	p.S371*	ENST00000427738.3	37	c.1112	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	C	38	6.825978	0.97865	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.57	4.62	0.57501	.	0.283087	0.35870	N	0.002940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4529	14.7297	0.69372	0.0:0.9298:0.0:0.0702	.	.	.	.	X	371;371;368;368	.	ENSP00000308928:S371X	S	+	2	0	CYLD	49369327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.580000	0.67464	1.473000	0.48159	0.650000	0.86243	TCA	0	NULL		0.313	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	protein_coding	OTTHUMT00000422998.2	82	357	0	0.28	0	1	C		0	0		50811826	1	no_errors	ENST00000311559	ensembl	human	known	74_37	nonsense	29	146	35.56	26.50	16	53	SNP	1	A	A	50811826	C	A	50811826	4	1	114	1	0	0	0	0	0	1	0	0	4143	838	29	5	1134	5	CYLD	16	50811826	Nonsense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	22209710	50811826	39542927	45	2235											
SLC47A1	55244	genome.wustl.edu	37	chr17	19451348	19451348	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgatcctgcagcggagTgcgctcgtcctgctcctctg	3	10	14	14	4	1	1	0	1	1	0	5	2	4	2	3	2	4	3	3	2	0	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr17:19451348T>C	ENST00000270570.4	+	4	443	c.357T>C	c.(355-357)agT>agC	p.S119S	SLC47A1_ENST00000542886.1_Silent_p.S119S|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000436810.2_Silent_p.S96S|SLC47A1_ENST00000457293.1_Silent_p.S119S|SLC47A1_ENST00000395585.1_Silent_p.S119S|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Silent_p.S119S	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	119					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)	TGCAGCGGAGTGCGCTCGTCC	0.612																																							0											0													144	120	128					17																	19451348		2203	4300	6503	SO:0001819	synonymous_variant	0				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.357T>C	17.37:g.19451348T>C			Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	pfam_MATE,tigrfam_MATE	p.S119	ENST00000270570.4	37	c.357	CCDS11209.1	17																																																																																			0	pfam_MATE,tigrfam_MATE		0.612	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	protein_coding	OTTHUMT00000132250.1	49	72	0	0.00	0	0	T	NM_018242	0	0		19451348	1	no_errors	ENST00000395585	ensembl	human	known	74_37	silent	34	60	19.05	17.33	8	13	SNP	0	C	C	19451348	T	C	19451348	2	2	114	1	0	0	0	0	0	0	0	1	14647	1693	59	3		3	SLC47A1	17	19451348	Silent	SNP	T	TCGA-ZB-A96V-01A-11D-A428-09		19451348	61743862	46	2236											
KRT19	3880	genome.wustl.edu	37	chr17	39680632	39680632	+	Splice_Site	SNP	C	C	T																															cctgcttccctctacctaccCggctggtgaaccaggcttca																								rs547328988		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr17:39680632C>T	ENST00000361566.3	-	4	881	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393976.2_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	274	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCTACCTACCCGGCTGGTGAA	0.572													C|||	1	0.000199681	0	0	5008	,	,		21196	0.001		0	False		,,,				2504	0						0.9998,0.0001997											0													70	71	71					17																	39680632		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.822+1G>A	17.37:g.39680632C>T			B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R274Q	ENST00000361566.3	37	c.821	CCDS11399.1	17	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455936	0.26161	.	.	ENSG00000171345	ENST00000361566	T	0.79352	-1.26	5.41	-3.01	0.05463	Prefoldin (1);Filament (1);	1.373470	0.05192	N	0.503332	T	0.43678	0.1258	N	0.00742	-1.23	0.26338	N	0.97741	B;B	0.16166	0.0;0.016	B;B	0.14578	0.001;0.011	T	0.51379	-0.8713	10	0.02654	T	1	.	11.6157	0.51088	0.0:0.2459:0.0:0.7541	.	437;274	B4DE59;P08727	.;K1C19_HUMAN	Q	274	ENSP00000355124:R274Q	ENSP00000355124:R274Q	R	-	2	0	KRT19	36934158	0.173000	0.23056	0.025000	0.17156	0.295000	0.27426	0.476000	0.22180	-0.872000	0.04037	-0.253000	0.11424	CGG	0	pfam_IF,superfamily_Prefoldin		0.572	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	protein_coding	OTTHUMT00000257285.1	45	196	0	0.51	0	1	C	NM_002276	rs547328988	C->T	Missense_Mutation	39680632	-1	no_errors	ENST00000361566	ensembl	human	known	74_37	missense	37	227	9.76	23.31	4	69	SNP	0.177	T	T	39680632	C	T	39680632	5	4	114	1	0	0	0	0	0	0	1	0	8456	666	23	2	393	2	KRT19	17	39680632	Splice_Site	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	20229284	39680632	41514578	47	2237	15	2									
KRT19	3880	genome.wustl.edu	37	chr17	39680635	39680635	+	Frame_Shift_Del	DEL	C	C	-																															gcttccctctacctacccggCtggtgaaccaggcttcagca																										TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr17:39680635delC	ENST00000361566.3	-	4	878	c.818delG	c.(817-819)agcfs	p.S273fs	KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393976.2_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	273	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				ACCTACCCGGCTGGTGAACCA	0.572																																							0											0													72	72	72					17																	39680635		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.818delG	17.37:g.39680635delC	ENSP00000355124:p.Ser273fs		B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Frame_Shift_Del	DEL	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.S273fs	ENST00000361566.3	37	c.818	CCDS11399.1	17																																																																																			0	pfam_IF,superfamily_Prefoldin		0.572	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	protein_coding	OTTHUMT00000257285.1	44	194	0	0.00	0	0	C	NM_002276	0	0		39680635	-1	no_errors	ENST00000361566	ensembl	human	known	74_37	frame_shift_del	38	231	9.52	21.69	4	64	DEL	0.001	0	-	39680635	C	-	39680635	7	5	114	1	0	1	0	1	0	0	0	0	8456	797	28	0	396	0	KRT19	17	39680635	Frame_Shift_Del	DEL	C	TCGA-ZB-A96V-01A-11D-A428-09	3	39680635	41514575	48	2238	15	2									
DNAH17	8632	genome.wustl.edu	37	chr17	76523021	76523021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcctggagtggtgccaCggtcagcttcacctgaatgg	6	10	15	10	1	2	1	2	1	0	0	2	2	2	2	3	5	2	2	3	5	1	2			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr17:76523021C>T	ENST00000585328.1	-	23	3680	c.3556G>A	c.(3556-3558)Gtg>Atg	p.V1186M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V1189M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1189	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)			AGTGGTGCCACGGTCAGCTTC	0.582																																							0											0													31	32	32					17																	76523021		2023	4177	6200	SO:0001583	missense	0			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.3556G>A	17.37:g.76523021C>T	ENSP00000465516:p.Val1186Met		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.V1189M	ENST00000585328.1	37	c.3565		17	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030699	0.75504	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.25749	1.78	4.45	4.45	0.53987	.	.	.	.	.	T	0.51092	0.1654	M	0.82132	2.575	0.44834	D	0.997842	.	.	.	.	.	.	T	0.59172	-0.7504	7	0.66056	D	0.02	.	17.2758	0.87114	0.0:1.0:0.0:0.0	.	.	.	.	M	1186;1189	ENSP00000374490:V1189M	ENSP00000300671:V1186M	V	-	1	0	DNAH17	74034616	0.998000	0.40836	1.000000	0.80357	0.547000	0.35210	3.683000	0.54663	2.311000	0.77944	0.561000	0.74099	GTG	0	NULL		0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	48	138	0	0.00	0	0	C	NM_173628	0	0		76523021	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	34	106	10.53	21.48	4	29	SNP	1	T	T	76523021	C	T	76523021	3	4	114	1	0	0	0	0	1	0	0	0	4601	536	19	1	10059	1	DNAH17	17	76523021	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	36842386	76523021	4672189	49	2239											
KATNAL2	83473	genome.wustl.edu	37	chr18	44595919	44595919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaaccttctttaacatttCtgcatccaccattgtcagca	12	13	3	13	0	3	0	1	0	2	0	4	0	4	0	3	0	5	2	3	0	3	5			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr18:44595919C>T	ENST00000245121.5	+	10	934	c.740C>T	c.(739-741)tCt>tTt	p.S247F	KATNAL2_ENST00000356157.7_Missense_Mutation_p.S319F|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TTTAACATTTCTGCATCCACC	0.368																																							0											0													94	91	92					18																	44595919		2203	4300	6503	SO:0001583	missense	0			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"ATPases / AAA-type"	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.740C>T	18.37:g.44595919C>T	ENSP00000245121:p.Ser247Phe			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S247F	ENST00000245121.5	37	c.740	CCDS32828.1	18	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970322	0.92919	.	.	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.95724	-3.79;-3.79	5.78	5.78	0.91487	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98842	1.0755	10	0.87932	D	0	-22.4362	20.0022	0.97423	0.0:1.0:0.0:0.0	.	319	Q8IYT4	KATL2_HUMAN	F	319;247;87	ENSP00000348478:S319F;ENSP00000245121:S247F	ENSP00000245121:S247F	S	+	2	0	KATNAL2	42849917	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.738000	0.93877	0.655000	0.94253	TCT	0	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.368	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	KATNAL2	protein_coding	OTTHUMT00000446138.2	131	299	0	0.33	0	1	C	NM_031303	0	0		44595919	1	no_errors	ENST00000245121	ensembl	human	known	74_37	missense	84	240	13.27	24.76	13	79	SNP	1	T	T	44595919	C	T	44595919	3	4	114	1	0	0	0	0	1	0	0	0	7986	913	32	3	774	3	KATNAL2	18	44595919	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09		44595919	33481329	50	2240											
DSEL	92126	genome.wustl.edu	37	chr18	65181841	65181841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcctgtaaacattaacGccatgatccatgggggagct	12	10	10	9	1	0	1	0	1	0	0	2	2	2	2	3	2	3	2	3	2	4	2			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr18:65181841G>A	ENST00000310045.7	-	2	1508	c.35C>T	c.(34-36)gCg>gTg	p.A12V	RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	2					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)				AAACATTAACGCCATGATCCA	0.393																																							0											0													70	66	67					18																	65181841		2203	4299	6502	SO:0001583	missense	0			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.35C>T	18.37:g.65181841G>A	ENSP00000310565:p.Ala12Val		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.A12V	ENST00000310045.7	37	c.35	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030696	0.93575	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.24538	1.85	5.01	5.01	0.66863	.	0.305004	0.30320	U	0.009881	T	0.44456	0.1294	L	0.41236	1.265	0.51012	D	0.999906	D	0.89917	1.0	D	0.78314	0.991	T	0.42548	-0.9445	10	0.87932	D	0	-0.1329	18.3235	0.90246	0.0:0.0:1.0:0.0	.	2	Q8IZU8	DSEL_HUMAN	V	12;2	ENSP00000310565:A12V	ENSP00000310565:A12V	A	-	2	0	DSEL	63332821	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.134000	0.89606	2.332000	0.79248	0.561000	0.74099	GCG	0	NULL		0.393	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	protein_coding	OTTHUMT00000256221.1	66	282	0	0.00	0	0	G	NM_032160	0	0		65181841	-1	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	50	211	20.63	16.80	13	43	SNP	1	A	A	65181841	G	A	65181841	3	1	114	1	0	0	0	0	1	0	0	0	4775	1087	38	1	3637	1	DSEL	18	65181841	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	20585922	65181841	12895407	51	2241											
RTTN	25914	genome.wustl.edu	37	chr18	67733068	67733068	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcactaaaaggataccttGagccacaaactggtcatggg	13	9	9	10	0	2	1	2	1	0	0	2	2	2	2	2	3	3	0	2	3	4	4			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr18:67733068G>A	ENST00000255674.6	-	35	5030	c.4744C>T	c.(4744-4746)Caa>Taa	p.Q1582*	RTTN_ENST00000437017.1_Nonsense_Mutation_p.Q1582*|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1582					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)				AGGATACCTTGAGCCACAAAC	0.388																																							0											0													116	112	113					18																	67733068		1864	4098	5962	SO:0001587	stop_gained	0			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.4744C>T	18.37:g.67733068G>A	ENSP00000255674:p.Gln1582*		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1582*	ENST00000255674.6	37	c.4744	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	43	10.167181	0.99351	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	.	.	.	5.67	2.86	0.33363	.	0.570036	0.18214	N	0.148090	.	.	.	.	.	.	0.41271	D	0.986842	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.1267	0.31003	0.082:0.3027:0.6153:0.0	.	.	.	.	X	1582	.	ENSP00000255674:Q1582X	Q	-	1	0	RTTN	65884048	0.992000	0.36948	0.157000	0.22605	0.356000	0.29392	2.817000	0.48034	0.397000	0.25310	-0.283000	0.09986	CAA	0	NULL		0.388	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	protein_coding	OTTHUMT00000442988.1	88	279	0	0.00	0	0	G	NM_173630	0	0		67733068	-1	no_errors	ENST00000255674	ensembl	human	known	74_37	nonsense	60	267	22.08	20.06	17	67	SNP	0.431	A	A	67733068	G	A	67733068	4	1	114	1	0	0	0	0	0	1	0	0	13737	1299	45	3	1996	3	RTTN	18	67733068	Nonsense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	2551227	67733068	10344180	52	2242											
MYO1F	4542	genome.wustl.edu	37	chr19	8615522	8615522	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgcaagatccccgccacGagctgcaggaccagctgctg	9	5	13	14	2	0	1	0	0	0	1	1	3	1	2	4	2	5	5	4	2	1	0	rs200593021		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:8615522G>A	ENST00000338257.8	-	9	1095	c.828C>T	c.(826-828)ctC>ctT	p.L276L	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	276	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						TCCCCGCCACGAGCTGCAGGA	0.592																																							0											0													67	72	70					19																	8615522		2002	4178	6180	SO:0001819	synonymous_variant	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.828C>T	19.37:g.8615522G>A			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.L276	ENST00000338257.8	37	c.828	CCDS42494.1	19																																																																																			0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.592	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	protein_coding	OTTHUMT00000342716.2	26	127	0	0.00	0	0	G		rs200593021	G->A		8615522	-1	no_errors	ENST00000338257	ensembl	human	known	74_37	silent	13	123	31.58	24.07	6	39	SNP	0.058	A	A	8615522	G	A	8615522	2	1	114	1	0	0	0	0	0	0	0	1	10073	1045	37	2		2	MYO1F	19	8615522	Silent	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09		8615522	50513461	53	2243											
SMARCA4	6597	genome.wustl.edu	37	chr19	11132513	11132513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgccgcctgctgctgaCgggcacaccgctgcagaaca	8	4	11	18	4	0	2	0	1	0	1	0	2	0	2	5	1	4	5	5	1	1	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:11132513C>T	ENST00000429416.3	+	20	3010	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000358026.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	910	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.T910M(6)|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)				CTGCTGCTGACGGGCACACCG	0.592			"F, N, Mis"		NSCLC																																		0		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	7	Substitution - Missense(6)|Unknown(1)	central_nervous_system(6)|lung(1)											88	68	75					19																	11132513		2203	4300	6503	SO:0001583	missense	0			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.2729C>T	19.37:g.11132513C>T	ENSP00000395654:p.Thr910Met		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.T910M	ENST00000429416.3	37	c.2729	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061387	0.55432	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.98507	4.25	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	0.998;0.998;0.998;0.996;0.994;1.0;0.998;0.998	D	0.98869	1.0765	10	0.87932	D	0	-34.7546	16.1519	0.81629	0.0:1.0:0.0:0.0	.	910;910;910;910;910;130;910;910	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	M	910;910;974;910;910;910;910;910	ENSP00000395654:T910M;ENSP00000350720:T910M;ENSP00000343896:T910M;ENSP00000445036:T910M;ENSP00000392837:T910M;ENSP00000397783:T910M;ENSP00000414727:T910M	ENSP00000343896:T910M	T	+	2	0	SMARCA4	10993513	1.000000	0.71417	0.968000	0.41197	0.009000	0.06853	7.651000	0.83577	2.348000	0.79779	0.655000	0.94253	ACG	0	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	protein_coding	OTTHUMT00000452638.2	19	51	0	0.00	0	0	C	NM_003072	0	0		11132513	1	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	20	56	31.03	21.13	9	15	SNP	0.999	T	T	11132513	C	T	11132513	3	4	114	1	0	0	0	0	1	0	0	0	14770	536	19	1	2799	1	SMARCA4	19	11132513	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	2516991	11132513	47996470	54	2244											
SMARCA4	6597	genome.wustl.edu	37	chr19	11141493	11141493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttcctgctcagcacccGggctggggggctcggcctga	4	8	14	15	2	2	1	1	1	1	0	4	1	3	1	3	5	2	4	3	5	0	1	rs11537675		TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:11141493G>A	ENST00000429416.3	+	26	3751	c.3470G>A	c.(3469-3471)cGg>cAg	p.R1157Q	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1157Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1157Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1157	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		R -> G (in MRD16; dbSNP:rs281875230). {ECO:0000269|PubMed:22426308}.		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)				CTCAGCACCCGGGCTGGGGGG	0.617			"F, N, Mis"		NSCLC																																		0		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)											24	26	26					19																	11141493		2196	4299	6495	SO:0001583	missense	0			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.3470G>A	19.37:g.11141493G>A	ENSP00000395654:p.Arg1157Gln		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.R1157Q	ENST00000429416.3	37	c.3470	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.400009	0.96030	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87740	0.6253	M	0.87038	2.855	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;0.999;0.999;1.0;1.0	D	0.90129	0.4205	10	0.87932	D	0	-38.2138	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1157;1157;1157;1157;1157;377;1157;1157	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	Q	1157;1157;1221;1157;1157;1157;1157;1157	ENSP00000395654:R1157Q;ENSP00000350720:R1157Q;ENSP00000343896:R1157Q;ENSP00000445036:R1157Q;ENSP00000392837:R1157Q;ENSP00000397783:R1157Q;ENSP00000414727:R1157Q	ENSP00000343896:R1157Q	R	+	2	0	SMARCA4	11002493	1.000000	0.71417	0.972000	0.41901	0.975000	0.68041	9.389000	0.97243	2.389000	0.81357	0.563000	0.77884	CGG	0	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.617	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	protein_coding	OTTHUMT00000452638.2	97	230	0	0.00	0	0	G	NM_003072	0	0		11141493	1	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	61	204	20.78	21.84	16	57	SNP	0.998	A	A	11141493	G	A	11141493	3	1	114	1	0	0	0	0	1	0	0	0	14770	1116	39	2	3564	2	SMARCA4	19	11141493	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	8980	11141493	47987490	55	2245											
PVR	5817	genome.wustl.edu	37	chr19	45153101	45153101	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagccccagaacacagctGaggttcagaaggtccagctc	12	5	10	14	0	1	3	1	1	0	2	3	3	2	3	4	2	4	3	4	2	3	1			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:45153101G>C	ENST00000425690.3	+	3	747	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	PVR_ENST00000406449.4_Missense_Mutation_p.E150Q|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.E150Q|PVR_ENST00000403059.4_Missense_Mutation_p.E150Q	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	150	Ig-like C2-type 1.				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)		GAACACAGCTGAGGTTCAGAA	0.582																																							0											0													132	141	138					19																	45153101		2203	4299	6502	SO:0001583	missense	0			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.448G>C	19.37:g.45153101G>C	ENSP00000402060:p.Glu150Gln		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E150Q	ENST00000425690.3	37	c.448	CCDS12640.1	19	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570312	0.65765	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.54	2.14	0.27477	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);	0.612178	0.14597	N	0.309850	D	0.85362	0.5679	M	0.88105	2.93	0.09310	N	1	D;D;P;P	0.58620	0.978;0.983;0.92;0.856	P;P;P;P	0.61874	0.894;0.895;0.721;0.858	T	0.74538	-0.3632	10	0.14656	T	0.56	.	8.7167	0.34416	0.0:0.0:0.5872:0.4128	.	150;150;150;150	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	Q	150	ENSP00000340870:E150Q;ENSP00000402060:E150Q;ENSP00000383907:E150Q;ENSP00000385344:E150Q	ENSP00000340870:E150Q	E	+	1	0	PVR	49844941	0.047000	0.20315	0.013000	0.15412	0.440000	0.31957	1.013000	0.29937	0.836000	0.34901	0.491000	0.48974	GAG	0	pfam_CD80_C2-set,pfscan_Ig-like_dom		0.582	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	protein_coding	OTTHUMT00000323017.2	23	130	0	0.00	0	0	G	NM_006505	0	0		45153101	1	no_errors	ENST00000425690	ensembl	human	known	74_37	missense	13	129	18.75	16.77	3	26	SNP	0.004	C	C	45153101	G	C	45153101	3	2	114	1	0	0	0	0	1	0	0	0	12837	1291	45	5	458	5	PVR	19	45153101	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	34011608	45153101	13975882	56	2246											
EMP3	2014	genome.wustl.edu	37	chr19	48832713	48832713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccatgcgacgaggaggtCtcttctatgccaccggcctc	8	8	10	15	3	2	0	0	0	2	0	4	3	2	1	4	3	2	0	4	3	1	2			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:48832713C>T	ENST00000270221.6	+	4	587	c.286C>T	c.(286-288)Ctc>Ttc	p.L96F	EMP3_ENST00000597279.1_Missense_Mutation_p.L96F|EMP3_ENST00000596315.1_Missense_Mutation_p.L27F	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	96					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|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)		ACGAGGAGGTCTCTTCTATGC	0.577																																							0											0													243	170	195					19																	48832713		2203	4300	6503	SO:0001583	missense	0			U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.286C>T	19.37:g.48832713C>T	ENSP00000270221:p.Leu96Phe		Q6FH01	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_EMP_3,prints_PMP22_EMP_MP20	p.L96F	ENST00000270221.6	37	c.286	CCDS12715.1	19	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402793	0.62288	.	.	ENSG00000142227	ENST00000270221	D	0.88509	-2.39	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.93423	0.7902	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.93794	0.7095	10	0.72032	D	0.01	.	17.0478	0.86509	0.0:1.0:0.0:0.0	.	96	P54852	EMP3_HUMAN	F	96	ENSP00000270221:L96F	ENSP00000270221:L96F	L	+	1	0	EMP3	53524525	0.994000	0.37717	1.000000	0.80357	0.152000	0.21847	6.828000	0.75308	2.760000	0.94817	0.544000	0.68410	CTC	0	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20		0.577	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP3	protein_coding	OTTHUMT00000465613.1	56	169	0	0.59	0	1	C	NM_001425	0	0		48832713	1	no_errors	ENST00000270221	ensembl	human	known	74_37	missense	32	164	21.95	21.15	9	44	SNP	1	T	T	48832713	C	T	48832713	3	4	114	1	0	0	0	0	1	0	0	0	5103	913	32	3	296	3	EMP3	19	48832713	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	3679612	48832713	10296270	57	2247											
ZNF600	162966	genome.wustl.edu	37	chr19	53269290	53269290	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctctccagtatgaagtctAcgatggtgaacaagggatgg	11	11	12	7	1	2	2	0	2	2	0	4	4	3	3	1	3	2	1	1	3	5	3			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr19:53269290A>C	ENST00000338230.3	-	3	1986	c.1719T>G	c.(1717-1719)cgT>cgG	p.R573R		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	573					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)		TATGAAGTCTACGATGGTGAA	0.438																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)		0											0													212	203	206					19																	53269290		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1719T>G	19.37:g.53269290A>C			Q6MZR0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R573	ENST00000338230.3	37	c.1719	CCDS12856.1	19																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	protein_coding	OTTHUMT00000463093.1	165	51	0	0.00	0	0	A	NM_198457	0	0		53269290	-1	no_errors	ENST00000338230	ensembl	human	known	74_37	silent	99	45	22.66	16.67	29	9	SNP	0.709	C	C	53269290	A	C	53269290	2	2	114	1	0	0	0	0	0	0	0	1	18027	378	14	5		5	ZNF600	19	53269290	Silent	SNP	A	TCGA-ZB-A96V-01A-11D-A428-09	4436577	53269290	5859693	58	2248											
IDH3B	3420	genome.wustl.edu	37	chr20	2639397	2639397	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggaagaaataaagggctCtagctccctttagtctgcag	11	11	11	8	0	2	1	0	0	2	1	3	2	3	2	1	2	2	4	1	2	6	5			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr20:2639397C>G	ENST00000380843.4	-	12	1188	c.1158G>C	c.(1156-1158)taG>taC	p.*386Y	IDH3B_ENST00000488299.1_5'UTR|SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|IDH3B_ENST00000380851.5_Intron|SNORD56_ENST00000413522.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	0					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						ATAAAGGGCTCTAGCTCCCTT	0.547																																							0											0													177	154	162					20																	2639397		2203	4300	6503	SO:0001578	stop_lost	0				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.1158G>C	20.37:g.2639397C>G			B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Nonstop_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.*386Y	ENST00000380843.4	37	c.1158	CCDS13032.1	20	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454424	0.43634	.	.	ENSG00000101365	ENST00000380843;ENST00000435594	.	.	.	5.42	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4713	0.32986	0.0:0.8206:0.0:0.1794	.	.	.	.	Y	386;234	.	.	X	-	3	2	IDH3B	2587397	0.991000	0.36638	1.000000	0.80357	0.884000	0.51177	2.699000	0.47077	0.663000	0.31027	0.585000	0.79938	TAG	0	NULL		0.547	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	protein_coding	OTTHUMT00000077613.1	42	226	0	0.00	0	0	C		0	0		2639397	-1	no_errors	ENST00000380843	ensembl	human	known	74_37	nonstop	22	209	42.11	20.23	16	53	SNP	1	G	G	2639397	C	G	2639397	4	3	114	1	0	0	0	0	0	0	0	0	7497	924	32	5	88	5	IDH3B	20	2639397	Nonstop_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09		2639397	60386123	59	2249											
CHEK2	11200	genome.wustl.edu	37	chr22	29090049	29090049	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgtcttaaggcttcttCtgtcgtaaaacgtgcctttg	6	15	11	9	3	3	0	0	0	3	0	4	0	3	0	1	2	2	2	1	2	3	5			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr22:29090049C>A	ENST00000405598.1	-	14	1623	c.1432G>T	c.(1432-1434)Gaa>Taa	p.E478*	CHEK2_ENST00000402731.1_Nonsense_Mutation_p.E449*|CHEK2_ENST00000348295.3_Nonsense_Mutation_p.E449*|CHEK2_ENST00000403642.1_Nonsense_Mutation_p.E387*|CHEK2_ENST00000328354.6_Nonsense_Mutation_p.E478*|CHEK2_ENST00000544772.1_Nonsense_Mutation_p.E257*|CHEK2_ENST00000382578.1_Nonsense_Mutation_p.E387*|CHEK2_ENST00000404276.1_Nonsense_Mutation_p.E478*|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Nonsense_Mutation_p.E521*|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	478	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						AAGGCTTCTTCTGTCGTAAAA	0.468			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															0	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0													224	248	239					22																	29090049		1388	2348	3736	SO:0001587	stop_gained	0			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.1432G>T	22.37:g.29090049C>A	ENSP00000386087:p.Glu478*		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Nonsense_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.E521*	ENST00000405598.1	37	c.1561	CCDS13843.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.332874|15.332874	0.99830|0.99830	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731|ENST00000434810	.|.	.|.	.|.	5.46|5.46	4.42|4.42	0.53409|0.53409	.|.	0.229422|.	0.44483|.	D|.	0.000444|.	.|T	.|0.59487	.|0.2197	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57010	.|-0.7884	.|4	0.23891|.	T|.	0.37|.	-14.5307|-14.5307	8.862|8.862	0.35263|0.35263	0.0:0.7704:0.1514:0.0782|0.0:0.7704:0.1514:0.0782	.|.	.|.	.|.	.|.	X|H	449;387;161;257;478;478;478;521;387;449|210	.|.	ENSP00000329178:E478X|.	E|Q	-|-	1|3	0|2	CHEK2|CHEK2	27420049|27420049	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.114000|2.114000	0.41911|0.41911	1.277000|1.277000	0.44412|0.44412	0.555000|0.555000	0.69702|0.69702	GAA|CAG	0	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	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	protein_coding	OTTHUMT00000321150.1	193	0	0	0.00	0	0	C	NM_001005735	0	0		29090049	-1	no_errors	ENST00000382580	ensembl	human	known	74_37	nonsense	133	0	19.88	0.00	33	0	SNP	1	A	A	29090049	C	A	29090049	4	1	114	1	0	0	0	0	0	1	0	0	3335	922	32	5	211	5	CHEK2	22	29090049	Nonsense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09		29090049	22214517	60	2250											
GAS2L1	10634	genome.wustl.edu	37	chr22	29704683	29704683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagggactcctgcccgCggcccccgcatgacacccag	7	3	11	20	3	0	1	0	1	0	0	1	2	1	2	6	2	1	2	6	2	0	0			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chr22:29704683C>T	ENST00000406549.3	+	2	738	c.588C>T	c.(586-588)cgC>cgT	p.R196R	GAS2L1_ENST00000471961.1_Silent_p.R196R|GAS2L1_ENST00000403764.1_Silent_p.R196R|GAS2L1_ENST00000407647.2_Silent_p.R196R|GAS2L1_ENST00000407854.1_Silent_p.R196R|GAS2L1_ENST00000341313.6_Silent_p.R196R|GAS2L1_ENST00000360113.2_Silent_p.R196R	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	196					cell cycle arrest (GO:0007050)|cellular response to starvation (GO:0009267)|cellular response to thyroid hormone stimulus (GO:0097067)|microtubule bundle formation (GO:0001578)|negative regulation of cell growth (GO:0030308)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of gene expression (GO:0010629)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)|thyroid hormone receptor binding (GO:0046966)			endometrium(2)|lung(2)|prostate(1)	5						CTCCTGCCCGCGGCCCCCGCA	0.706																																							0											0													7	11	10					22																	29704683		2152	4245	6397	SO:0001819	synonymous_variant	0			BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340			16955	protein-coding gene	gene with protein product		602128				8975699, 12584248, 1607387	Standard	NM_001278730		Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.588C>T	22.37:g.29704683C>T			B5MCR7|Q53EN7|Q92640|Q9BUY9	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.R196	ENST00000406549.3	37	c.588		22																																																																																			0	NULL		0.706	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	GAS2L1	protein_coding	OTTHUMT00000321365.1	14	67	0	0.00	0	0	C	NM_006478	0	0		29704683	1	no_errors	ENST00000403764	ensembl	human	known	74_37	silent	9	106	25	20.90	3	28	SNP	0.235	T	T	29704683	C	T	29704683	2	4	114	1	0	0	0	0	0	0	0	1	6246	755	27	1		1	GAS2L1	22	29704683	Silent	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	614634	29704683	21599883	61	2251											
USP9X	8239	genome.wustl.edu	37	chrX	41082535	41082535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttatgcttgtgtctttaGatgaaggtccaggtcctcca	7	16	9	9	0	1	2	0	1	1	1	4	2	4	2	3	2	1	1	3	2	3	5			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chrX:41082535G>A	ENST00000324545.8	+	39	7264	c.6631G>A	c.(6631-6633)Gat>Aat	p.D2211N	USP9X_ENST00000378308.2_Missense_Mutation_p.D2211N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2211					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGTGTCTTTAGATGAAGGTCC	0.428																																					Ovarian(172;1807 2695 35459 49286)		0											0													158	143	148					X																	41082535		2199	4300	6499	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6631G>A	X.37:g.41082535G>A	ENSP00000316357:p.Asp2211Asn		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.D2211N	ENST00000324545.8	37	c.6631	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893489	0.91889	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.30714	1.52;1.52	5.4	4.54	0.55810	.	0.045682	0.85682	N	0.000000	T	0.53270	0.1786	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.66084	0.923;0.941	T	0.57499	-0.7801	10	0.66056	D	0.02	.	13.5765	0.61877	0.0769:0.0:0.9231:0.0	.	2211;2211	Q93008-1;Q93008	.;USP9X_HUMAN	N	2211	ENSP00000367558:D2211N;ENSP00000316357:D2211N	ENSP00000316357:D2211N	D	+	1	0	USP9X	40967479	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.472000	0.97709	1.052000	0.40392	-0.178000	0.13098	GAT	0	NULL		0.428	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	protein_coding	OTTHUMT00000056250.4	38	125	0	0.00	0	0	G	NM_004652	0	0		41082535	1	no_errors	ENST00000324545	ensembl	human	known	74_37	missense	21	65	53.33	43.48	24	50	SNP	1	A	A	41082535	G	A	41082535	3	1	114	1	0	0	0	0	1	0	0	0	17087	942	33	3	6781	3	USP9X	23	41082535	Missense_Mutation	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09		41082535	114188025	62	2252											
DLG3	1741	genome.wustl.edu	37	chrX	69670114	69670114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattgaggggggtgctgctCagaaggatggacgcctacag	9	8	16	8	1	2	2	2	1	0	1	2	4	2	4	1	5	3	2	1	5	2	2			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chrX:69670114C>G	ENST00000374360.3	+	5	1032	c.799C>G	c.(799-801)Cag>Gag	p.Q267E	DLG3-AS1_ENST00000424211.1_RNA|DLG3-AS1_ENST00000431103.1_RNA|RNU4-81P_ENST00000363561.1_RNA|DLG3_ENST00000194900.4_Missense_Mutation_p.Q285E|DLG3_ENST00000374355.3_5'Flank	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	267	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)					GGGTGCTGCTCAGAAGGATGG	0.572																																							0											0													42	33	36					X																	69670114		2203	4298	6501	SO:0001583	missense	0			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.799C>G	X.37:g.69670114C>G	ENSP00000363480:p.Gln267Glu		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.Q285E	ENST00000374360.3	37	c.853	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948858	0.34377	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.23754	1.89;1.89	4.48	4.48	0.54585	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	N	0.02403	-0.565	0.80722	D	1	D	0.57899	0.981	D	0.79784	0.993	T	0.41484	-0.9506	9	.	.	.	.	15.3401	0.74290	0.0:1.0:0.0:0.0	.	267	Q92796	DLG3_HUMAN	E	285;267	ENSP00000194900:Q285E;ENSP00000363480:Q267E	.	Q	+	1	0	DLG3	69586839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.228000	0.78079	2.067000	0.61834	0.436000	0.28706	CAG	0	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ		0.572	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	protein_coding	OTTHUMT00000057074.2	33	64	0	0.00	0	0	C	NM_021120	0	0		69670114	1	no_errors	ENST00000194900	ensembl	human	known	74_37	missense	12	55	36.84	42.71	7	41	SNP	1	G	G	69670114	C	G	69670114	3	3	114	1	0	0	0	0	1	0	0	0	4556	827	29	5	817	5	DLG3	23	69670114	Missense_Mutation	SNP	C	TCGA-ZB-A96V-01A-11D-A428-09	28587579	69670114	85600446	63	2253											
KIAA2022	340533	genome.wustl.edu	37	chrX	73963428	73963428	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagagtagtcttgtctcGaacattgtcctgaaaggatt	13	12	9	7	1	2	2	0	1	2	1	4	4	3	3	1	1	1	1	1	1	5	4			TCGA-ZB-A96V-01A-11D-A428-09	TCGA-ZB-A96V-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	5ae4ee64-a5d2-40e7-9d8f-4f780f31ee34	3c1c053a-1642-4afe-8aa4-a0cc3156cac4	g.chrX:73963428G>T	ENST00000055682.6	-	3	1575	c.964C>A	c.(964-966)Cga>Aga	p.R322R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	322					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)	p.R322*(1)		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						GTCTTGTCTCGAACATTGTCC	0.438																																							0											1	Substitution - Nonsense(1)	large_intestine(1)											91	78	83					X																	73963428		2203	4300	6503	SO:0001819	synonymous_variant	0				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.964C>A	X.37:g.73963428G>T			A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.R322	ENST00000055682.6	37	c.964	CCDS35337.1	X																																																																																			0	NULL		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	16	124	0	0.00	0	0	G	NM_001008537	0	0		73963428	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	silent	10	94	41.18	43.37	7	72	SNP	1	T	T	73963428	G	T	73963428	2	4	114	1	0	0	0	0	0	0	0	1	8269	1066	37	5		5	KIAA2022	23	73963428	Silent	SNP	G	TCGA-ZB-A96V-01A-11D-A428-09	4293314	73963428	81307132	64	2254											
PLEKHN1	84069	genome.wustl.edu	37	chr1	907768	907768	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacagggagggggccccGccgctgcctggtgccgagag	6	3	17	15	3	0	1	0	0	0	1	0	3	0	2	6	4	2	1	6	4	0	0	rs376185569	byFrequency	TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:907768G>A	ENST00000379409.2	+	9	1152	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P	PLEKHN1_ENST00000379407.3_Silent_p.P334P|PLEKHN1_ENST00000379410.3_Silent_p.P322P			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	374										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGGGGGCCCCGCCGCTGCCTG	0.677													G|||	2	0.000399361	0	0.0029	5008	,	,		13401	0		0	False		,,,				2504	0						0.9996,0.0003994											0								G	,	0,4346		0,0,2173	11	12	12		1002,966	-5.2	0	1		12	1,8533		0,1,4266	no	coding-synonymous,coding-synonymous	PLEKHN1	NM_001160184.1,NM_032129.2	,	0,1,6439	AA,AG,GG		0.0117,0.0,0.0078	,	334/577,322/612	907768	1,12879	2173	4267	6440	SO:0001819	synonymous_variant	0			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1122G>A	1.37:g.907768G>A			Q494U2|Q5SV98|Q9H0M7	Silent	SNP	smart_Pleckstrin_homology	p.P374	ENST00000379409.2	37	c.1122		1																																																																																			0	NULL		0.677	PLEKHN1-005	KNOWN	basic	protein_coding	PLEKHN1	protein_coding	OTTHUMT00000473256.1	22	52	0	0.00	0	0	G	NM_032129	rs376185569	G->A		907768	1	no_errors	ENST00000379409	ensembl	human	known	74_37	silent	10	22	28.57	17.86	4	5	SNP	0	A	A	907768	G	A	907768	2	1	115	1	0	0	0	0	0	0	0	1	12083	1074	38	1		1	PLEKHN1	1	907768	Silent	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09		907768	248342853	1	2255											
C1orf127	148345	genome.wustl.edu	37	chr1	11008316	11008316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccaggccctgtctggcGtggcctctccacctccgttc	4	9	11	17	2	2	1	0	0	2	1	5	2	3	1	6	3	0	1	6	3	0	1	rs370186380		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:11008316G>A	ENST00000377008.4	-	11	1821	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	C1orf127_ENST00000377004.4_Missense_Mutation_p.R626C			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	459								p.R459C(1)|p.R626C(1)		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)		CCTGTCTGGCGTGGCCTCTCC	0.657																																							0											2	Substitution - Missense(2)	lung(2)						G	CYS/ARG	0,4406		0,0,2203	57	65	62		1876	-2.7	0	1		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf127	NM_001170754.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	626/824	11008316	1,13005	2203	4300	6503	SO:0001583	missense	0			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.1375C>T	1.37:g.11008316G>A	ENSP00000366207:p.Arg459Cys		A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.R626C	ENST00000377008.4	37	c.1876		1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127043	0.37533	0.0	1.16E-4	ENSG00000175262	ENST00000377004;ENST00000377008	T;T	0.26660	1.72;1.72	4.34	-2.73	0.05950	.	0.920442	0.08805	N	0.891158	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	P;P;P	0.49358	0.923;0.923;0.923	B;B;B	0.31751	0.135;0.135;0.135	T	0.20174	-1.0283	10	0.51188	T	0.08	0.7213	4.868	0.13618	0.3133:0.0:0.4535:0.2331	.	477;451;459	B7ZLG7;Q8N9H9-2;Q8N9H9	.;.;CA127_HUMAN	C	626;459	ENSP00000366203:R626C;ENSP00000366207:R459C	ENSP00000366203:R626C	R	-	1	0	C1orf127	10930903	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.490000	0.06482	-1.073000	0.03137	-2.067000	0.00394	CGC	0	NULL		0.657	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	protein_coding		67	85	0	0.00	0	0	G	NM_173507	rs370186380	G->A		11008316	-1	no_errors	ENST00000377004	ensembl	human	known	74_37	missense	39	42	22	32.26	11	20	SNP	0	A	A	11008316	G	A	11008316	3	1	115	1	0	0	0	0	1	0	0	0	1994	1145	40	1	599	1	C1orf127	1	11008316	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	10100548	11008316	238242305	2	2256											
PAX7	5081	genome.wustl.edu	37	chr1	19071364	19071364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacccagcgtcgcatgaagCtcggggagcactctgctgtg	7	7	13	14	3	1	1	0	1	1	0	3	2	1	2	2	2	4	4	2	2	1	0			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:19071364C>T	ENST00000420770.2	+	9	1542	c.1459C>T	c.(1459-1461)Ctc>Ttc	p.L487F		NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	0					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|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 cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	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)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TCGCATGAAGCTCGGGGAGCA	0.557			T	FOXO1A	alveolar rhabdomyosarcoma																																		0		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													25	26	26					1																	19071364		1560	3536	5096	SO:0001583	missense	0			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000420770.2:c.1459C>T	1.37:g.19071364C>T	ENSP00000403389:p.Leu487Phe		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.L487F	ENST00000420770.2	37	c.1459	CCDS44074.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433359	0.83776	.	.	ENSG00000009709	ENST00000420770	D	0.95238	-3.65	5.32	4.2	0.49525	.	.	.	.	.	D	0.93112	0.7807	L	0.54323	1.7	0.80722	D	1	D	0.55385	0.971	P	0.46026	0.501	D	0.93541	0.6878	9	0.66056	D	0.02	.	13.5958	0.61988	0.0:0.9095:0.0:0.0905	.	487	E9PFV9	.	F	487	ENSP00000403389:L487F	ENSP00000403389:L487F	L	+	1	0	PAX7	18943951	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	5.310000	0.65780	2.492000	0.84095	0.655000	0.94253	CTC	0	NULL		0.557	PAX7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX7	protein_coding	OTTHUMT00000372482.1	36	161	0	0.61	0	1	C	NM_002584	0	0		19071364	1	no_errors	ENST00000420770	ensembl	human	known	74_37	missense	20	119	23.08	21.71	6	33	SNP	1	T	T	19071364	C	T	19071364	3	4	115	1	0	0	0	0	1	0	0	0	11484	797	28	3	1654	3	PAX7	1	19071364	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	8063048	19071364	230179257	3	2257											
EPHA8	2046	genome.wustl.edu	37	chr1	22919851	22919851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtgatccgtcaagagCgggcggggcagaccagcgtc	7	6	18	10	4	1	3	1	1	0	2	3	3	2	3	2	5	2	1	2	5	1	0			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:22919851C>T	ENST00000166244.3	+	6	1420	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	450	Fibronectin type-III 2. {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)		CCGTCAAGAGCGGGCGGGGCA	0.652																																							0											0													14	13	14					1																	22919851		2186	4290	6476	SO:0001583	missense	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1348C>T	1.37:g.22919851C>T	ENSP00000166244:p.Arg450Trp		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.R450W	ENST00000166244.3	37	c.1348	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259483	0.59321	.	.	ENSG00000070886	ENST00000166244	T	0.54479	0.57	4.27	4.27	0.50696	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.230235	0.35555	N	0.003128	T	0.60379	0.2264	L	0.53671	1.685	0.80722	D	1	D	0.71674	0.998	P	0.60473	0.875	T	0.58329	-0.7655	10	0.38643	T	0.18	.	9.8707	0.41172	0.3105:0.6895:0.0:0.0	.	450	P29322	EPHA8_HUMAN	W	450	ENSP00000166244:R450W	ENSP00000166244:R450W	R	+	1	2	EPHA8	22792438	0.954000	0.32549	0.989000	0.46669	0.834000	0.47266	1.213000	0.32407	2.349000	0.79799	0.591000	0.81541	CGG	0	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.652	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	70	54	0	0.00	0	0	C	NM_020526	0	0		22919851	1	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	52	39	7.14	4.76	4	2	SNP	0.987	T	T	22919851	C	T	22919851	3	4	115	1	0	0	0	0	1	0	0	0	5173	759	27	1	1543	1	EPHA8	1	22919851	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	3848487	22919851	226330770	4	2258											
SFPQ	6421	genome.wustl.edu	37	chr1	35657000	35657000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacttctcctggttctccaTatttagcaaatagtcttttg	10	17	5	9	0	3	0	0	0	3	0	5	0	3	0	2	1	2	2	2	1	5	8			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:35657000T>C	ENST00000357214.5	-	2	1057	c.959A>G	c.(958-960)tAt>tGt	p.Y320C		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	320	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGGTTCTCCATATTTAGCAAA	0.378			T	TFE3	papillary renal cell																																		0		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													104	106	106					1																	35657000		2203	4300	6503	SO:0001583	missense	0			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.959A>G	1.37:g.35657000T>C	ENSP00000349748:p.Tyr320Cys		P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.Y320C	ENST00000357214.5	37	c.959	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.570807	0.86542	.	.	ENSG00000116560	ENST00000357214	T	0.19105	2.17	5.25	5.25	0.73442	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.29150	-1.0021	10	0.87932	D	0	-5.1421	15.1818	0.72965	0.0:0.0:0.0:1.0	.	320	P23246	SFPQ_HUMAN	C	320	ENSP00000349748:Y320C	ENSP00000349748:Y320C	Y	-	2	0	SFPQ	35429587	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.991000	0.88244	1.972000	0.57404	0.455000	0.32223	TAT	0	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.378	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	protein_coding	OTTHUMT00000011984.4	111	301	0	0.00	0	0	T	NM_005066	0	0		35657000	-1	no_errors	ENST00000357214	ensembl	human	known	74_37	missense	85	208	29.17	28.81	35	85	SNP	1	C	C	35657000	T	C	35657000	3	2	115	1	0	0	0	0	1	0	0	0	14160	1406	49	3	1200	3	SFPQ	1	35657000	Missense_Mutation	SNP	T	TCGA-ZC-AAA7-01A-11D-A428-09	12737149	35657000	213593621	5	2259											
ECM1	1893	genome.wustl.edu	37	chr1	150484110	150484110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatatttcctcgggtcttGagctgcctttccctcctggg	3	15	10	13	1	1	2	0	2	1	0	5	2	4	2	4	2	2	1	4	2	1	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:150484110G>C	ENST00000369047.4	+	7	1011	c.886G>C	c.(886-888)Gag>Cag	p.E296Q	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.E323Q|ECM1_ENST00000346569.6_Intron	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	296	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCGGGTCTTGAGCTGCCTTT	0.612																																					Melanoma(156;1696 2560 11093 19685)		0											0													61	52	55					1																	150484110		2203	4300	6503	SO:0001583	missense	0			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.886G>C	1.37:g.150484110G>C	ENSP00000358043:p.Glu296Gln		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.E323Q	ENST00000369047.4	37	c.967	CCDS953.1	1	.	.	.	.	.	.	.	.	.	.	G	8.579	0.881782	0.17467	.	.	ENSG00000143369	ENST00000369049;ENST00000369047	T;T	0.79454	-1.27;-1.27	4.19	-0.0503	0.13831	.	0.631424	0.15499	N	0.259122	T	0.38453	0.1041	L	0.33485	1.01	0.19575	N	0.999963	P;B;B	0.35793	0.521;0.074;0.074	B;B;B	0.33454	0.164;0.084;0.133	T	0.23762	-1.0179	10	0.25106	T	0.35	-2.6745	4.0152	0.09641	0.3158:0.1868:0.4974:0.0	.	323;296;296	Q16610-4;C8CHS3;Q16610	.;.;ECM1_HUMAN	Q	323;296	ENSP00000358045:E323Q;ENSP00000358043:E296Q	ENSP00000358043:E296Q	E	+	1	0	ECM1	148750734	0.042000	0.20092	0.005000	0.12908	0.943000	0.58893	0.213000	0.17521	-0.082000	0.12640	0.555000	0.69702	GAG	0	pfam_ECM1		0.612	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	protein_coding	OTTHUMT00000035832.2	51	173	0	0.00	0	0	G	NM_004425	0	0		150484110	1	no_errors	ENST00000369049	ensembl	human	known	74_37	missense	24	168	14.29	12.95	4	25	SNP	0.021	C	C	150484110	G	C	150484110	3	2	115	1	0	0	0	0	1	0	0	0	4897	1291	45	5	912	5	ECM1	1	150484110	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	114827110	150484110	98766511	6	2260											
FAM78B	149297	genome.wustl.edu	37	chr1	166135246	166135246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaggtcgctgtaggtgttGaagaactccatctgattgca	9	11	11	10	1	1	3	0	2	1	1	3	3	2	3	2	2	2	4	2	2	3	3	rs369560911		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:166135246G>C	ENST00000338353.3	-	2	829	c.240C>G	c.(238-240)ttC>ttG	p.F80L	RP11-9L18.3_ENST00000451784.1_RNA|FAM78B_ENST00000354422.3_Missense_Mutation_p.F80L			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	80										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)					TGTAGGTGTTGAAGAACTCCA	0.662																																							0											0													56	52	53					1																	166135246		2203	4299	6502	SO:0001583	missense	0			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.240C>G	1.37:g.166135246G>C	ENSP00000339681:p.Phe80Leu		B7Z693	Missense_Mutation	SNP	NULL	p.F80L	ENST00000338353.3	37	c.240	CCDS30931.1	1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705491	0.30232	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	4.29	4.29	0.51040	.	0.113564	0.64402	D	0.000008	T	0.27313	0.0670	L	0.34521	1.04	0.34590	D	0.715437	B	0.12630	0.006	B	0.14023	0.01	T	0.08229	-1.0732	8	0.13470	T	0.59	-4.9141	14.279	0.66199	0.0:0.0:1.0:0.0	.	80	Q5VT40	FA78B_HUMAN	L	80	.	ENSP00000339681:F80L	F	-	3	2	FAM78B	164401870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.216000	0.77974	2.205000	0.71048	0.467000	0.42956	TTC	0	NULL		0.662	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78B	protein_coding	OTTHUMT00000343108.1	16	87	0	0.00	0	0	G	NM_001017961	0	0		166135246	-1	no_errors	ENST00000338353	ensembl	human	known	74_37	missense	21	67	16	20.00	4	17	SNP	1	C	C	166135246	G	C	166135246	3	2	115	1	0	0	0	0	1	0	0	0	5627	1281	45	5	553	5	FAM78B	1	166135246	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	15651136	166135246	83115375	7	2261											
USH2A	7399	genome.wustl.edu	37	chr1	215916612	215916612	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaccaacggagaaggccaGaggtgttacacttccatcat	13	8	10	10	1	1	3	1	1	0	2	2	4	2	3	3	3	2	1	3	3	3	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:215916612G>A	ENST00000307340.3	-	59	11841	c.11455C>T	c.(11455-11457)Ctg>Ttg	p.L3819L	USH2A_ENST00000366943.2_Silent_p.L3819L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3819	Fibronectin type-III 23. {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)		GAGAAGGCCAGAGGTGTTACA	0.413										HNSCC(13;0.011)																													0											0													138	131	134					1																	215916612		2203	4300	6503	SO:0001819	synonymous_variant	0			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.11455C>T	1.37:g.215916612G>A			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.L3819	ENST00000307340.3	37	c.11455	CCDS31025.1	1																																																																																			0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	80	273	0	0.36	0	1	G	NM_007123	0	0		215916612	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	56	209	17.65	17.00	12	43	SNP	0.476	A	A	215916612	G	A	215916612	2	1	115	1	0	0	0	0	0	0	0	1	17033	933	33	3		3	USH2A	1	215916612	Silent	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	49781366	215916612	33334009	8	2262											
HIST3H2A	92815	genome.wustl.edu	37	chr1	228645484	228645484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgacttagccttggcgCgcgccttgccaccctgctta	5	9	11	16	5	0	0	0	0	0	0	0	1	0	0	4	1	4	1	4	1	2	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:228645484C>T	ENST00000366695.2	-	1	76	c.35G>A	c.(34-36)cGc>cAc	p.R12H	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	12					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				AGCCTTGGCGCGCGCCTTGCC	0.622																																							0											0													13	17	16					1																	228645484		2113	4216	6329	SO:0001583	missense	0			AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"Histones / Replication-dependent"	20507	protein-coding gene	gene with protein product		615015	"histone 3, H2a"			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.35G>A	1.37:g.228645484C>T	ENSP00000355656:p.Arg12His		B2R4S4	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R12H	ENST00000366695.2	37	c.35	CCDS1573.1	1	.	.	.	.	.	.	.	.	.	.	.	13.89	2.371455	0.42003	.	.	ENSG00000181218	ENST00000366695	T	0.47177	0.85	4.07	4.07	0.47477	Histone-fold (2);Histone H2A (1);	0.000000	0.47852	D	0.000219	T	0.53642	0.1809	M	0.68593	2.085	0.45690	D	0.9986	D	0.60160	0.987	P	0.48654	0.585	T	0.62483	-0.6845	10	0.87932	D	0	.	14.5656	0.68173	0.0:1.0:0.0:0.0	.	12	Q7L7L0	H2A3_HUMAN	H	12	ENSP00000355656:R12H	ENSP00000355656:R12H	R	-	2	0	HIST3H2A	226712107	0.919000	0.31177	0.990000	0.47175	0.143000	0.21401	7.176000	0.77643	2.549000	0.85964	0.655000	0.94253	CGC	0	superfamily_Histone-fold,smart_Histone_H2A		0.622	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H2A	protein_coding	OTTHUMT00000096598.1	25	89	0	0.00	0	0	C	NM_033445	0	0		228645484	-1	no_errors	ENST00000366695	ensembl	human	known	74_37	missense	19	75	24	25.74	6	26	SNP	1	T	T	228645484	C	T	228645484	3	4	115	1	0	0	0	0	1	0	0	0	7182	768	27	1	361	1	HIST3H2A	1	228645484	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	12728872	228645484	20605137	9	2263											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232600795	232600795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagatcccgagaagacattCaatgtcagcagactggccga	13	6	12	10	2	2	4	2	0	0	4	3	7	3	4	2	2	1	1	2	2	2	1			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr1:232600795C>T	ENST00000366630.1	-	8	2969	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E871K|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	871					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)				AGAAGACATTCAATGTCAGCA	0.478																																							0											0													103	101	102					1																	232600795		1953	4144	6097	SO:0001583	missense	0			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.2611G>A	1.37:g.232600795C>T	ENSP00000355589:p.Glu871Lys		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.E871K	ENST00000366630.1	37	c.2611	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932607	0.52866	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.44083	0.93;0.93	6.06	5.14	0.70334	.	0.106709	0.64402	D	0.000004	T	0.27489	0.0675	N	0.17082	0.46	0.47905	D	0.999546	B	0.24823	0.112	B	0.22152	0.038	T	0.07654	-1.0761	10	0.48119	T	0.1	-29.4842	10.7741	0.46340	0.0:0.8003:0.1321:0.0675	.	871	Q9P2F8	SI1L2_HUMAN	K	871	ENSP00000355589:E871K;ENSP00000262861:E871K	ENSP00000262861:E871K	E	-	1	0	SIPA1L2	230667418	0.998000	0.40836	0.725000	0.30721	0.747000	0.42532	4.090000	0.57693	1.551000	0.49450	0.650000	0.86243	GAA	0	NULL		0.478	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	protein_coding	OTTHUMT00000092318.1	22	157	0	0.00	0	0	C	XM_045839	0	0		232600795	-1	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	32	125	15.79	25.88	6	44	SNP	0.997	T	T	232600795	C	T	232600795	3	4	115	1	0	0	0	0	1	0	0	0	14330	835	29	3	2617	3	SIPA1L2	1	232600795	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	3955311	232600795	16649826	10	2264											
SP3	6670	genome.wustl.edu	37	chr2	174820297	174820297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaatatcaggagaaacccGctcaccagtcctttctgaat	13	11	6	11	1	3	2	2	1	1	1	4	3	4	2	3	1	1	1	3	1	4	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr2:174820297G>A	ENST00000310015.6	-	4	1473	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	SP3_ENST00000418194.2_Missense_Mutation_p.R247W|SP3_ENST00000455789.2_Missense_Mutation_p.R262W|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	315					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)			GGAGAAACCCGCTCACCAGTC	0.403																																							0											0													105	110	108					2																	174820297		2203	4300	6503	SO:0001583	missense	0			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.943C>T	2.37:g.174820297G>A	ENSP00000310301:p.Arg315Trp		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.R315W	ENST00000310015.6	37	c.943	CCDS2254.1	2	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995176	0.54147	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.05139	3.5;3.49;3.5	5.51	3.67	0.42095	.	0.170605	0.53938	D	0.000059	T	0.03095	0.0091	N	0.08118	0	0.37047	D	0.897413	B;P;B	0.41978	0.0;0.767;0.0	B;B;B	0.32805	0.0;0.153;0.0	T	0.52924	-0.8510	10	0.66056	D	0.02	.	10.3285	0.43807	0.0701:0.0:0.7945:0.1354	.	312;315;262	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	W	315;262;247	ENSP00000310301:R315W;ENSP00000388903:R262W;ENSP00000406140:R247W	ENSP00000310301:R315W	R	-	1	2	SP3	174528543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.553000	0.82203	0.654000	0.30846	0.563000	0.77884	CGG	0	NULL		0.403	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	protein_coding	OTTHUMT00000255452.1	48	156	0	0.00	0	0	G	NM_003111	0	0		174820297	-1	no_errors	ENST00000310015	ensembl	human	known	74_37	missense	19	113	17.39	29.38	4	47	SNP	1	A	A	174820297	G	A	174820297	3	1	115	1	0	0	0	0	1	0	0	0	14965	1086	38	1	1418	1	SP3	2	174820297	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09		174820297	68379076	11	2265											
TTN	7273	genome.wustl.edu	37	chr2	179498642	179498642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatttccaatttgtgaGtcttgccctcagaagagatg	9	15	8	9	0	3	3	2	1	1	2	4	4	4	3	2	0	1	0	2	0	2	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr2:179498642G>C	ENST00000591111.1	-	181	37885	c.37661C>G	c.(37660-37662)aCt>aGt	p.T12554S	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T5322S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T14195S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T11627S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T5255S|TTN_ENST00000460472.2_Missense_Mutation_p.T5130S			Q8WZ42	TITIN_HUMAN	titin	12554	Ig-like 83.				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)			CAATTTGTGAGTCTTGCCCTC	0.403																																							0											0													326	306	312					2																	179498642		1905	4136	6041	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37661C>G	2.37:g.179498642G>C	ENSP00000465570:p.Thr12554Ser		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.T11627S	ENST00000591111.1	37	c.34880		2	.	.	.	.	.	.	.	.	.	.	G	8.871	0.949246	0.18356	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.93	4.15	0.48705	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	0.47619	0.1455	N	0.16656	0.425	0.23950	N	0.996377	B;B;B;B	0.17852	0.024;0.024;0.024;0.024	B;B;B;B	0.18871	0.023;0.023;0.023;0.023	T	0.42032	-0.9475	9	0.87932	D	0	.	4.1476	0.10224	0.229:0.0:0.5031:0.2679	.	5130;5255;5322;12554	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	11627;5130;5322;5255;5130	ENSP00000343764:T11627S;ENSP00000434586:T5130S;ENSP00000340554:T5322S;ENSP00000352154:T5255S	ENSP00000340554:T5322S	T	-	2	0	TTN	179206887	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	1.496000	0.35638	0.859000	0.35456	0.563000	0.77884	ACT	0	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	24	236	0	0.00	0	0	G	NM_133378	0	0		179498642	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	24	151	11.11	24.50	3	49	SNP	0.994	C	C	179498642	G	C	179498642	3	2	115	1	0	0	0	0	1	0	0	0	16732	1029	36	5	65637	5	TTN	2	179498642	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	4678345	179498642	63700731	12	2266											
CHL1	10752	genome.wustl.edu	37	chr3	440069	440069	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattgagacaagagggagagGtgagaaatgagattatattt	17	10	13	1	0	0	5	0	3	0	5	0	9	0	5	0	2	0	0	0	2	5	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr3:440069G>C	ENST00000256509.2	+	25	3895		c.e25+1		CHL1_ENST00000397491.2_Splice_Site	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						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)		AGAGGGAGAGGTGAGAAATGA	0.378																																							0											0													76	75	75					3																	440069		2203	4300	6503	SO:0001630	splice_region_variant	0			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.3253+1G>C	3.37:g.440069G>C			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	0	e23+1	ENST00000256509.2	37	c.3253+1	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455857	0.84209	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5195	0.95179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHL1	415069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.278000	0.89899	2.634000	0.89283	0.650000	0.86243	.	0	0		0.378	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	protein_coding	OTTHUMT00000207155.2	50	258	0	0.00	0	0	G	NM_006614	0	0	Intron	440069	1	no_errors	ENST00000256509	ensembl	human	known	74_37	splice_site	27	170	18.18	20.56	6	44	SNP	1	C	C	440069	G	C	440069	5	2	115	1	0	0	0	0	0	0	1	0	3349	1275	44	5	3344	5	CHL1	3	440069	Splice_Site	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09		440069	197582361	13	2267											
CLASP2	23122	genome.wustl.edu	37	chr3	33576832	33576832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggattatagtctcgagagCgtggagaggagtgagtaggc	11	9	17	4	2	1	3	0	1	1	2	2	7	1	5	0	4	1	1	0	4	3	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr3:33576832C>T	ENST00000468888.2	-	34	3750	c.3704G>A	c.(3703-3705)cGc>cAc	p.R1235H	CLASP2_ENST00000539981.1_Missense_Mutation_p.R1004H|CLASP2_ENST00000461133.3_Missense_Mutation_p.R994H|CLASP2_ENST00000399362.4_Missense_Mutation_p.R1234H|CLASP2_ENST00000480013.1_Missense_Mutation_p.R1014H|CLASP2_ENST00000359576.5_Missense_Mutation_p.R1226H|CLASP2_ENST00000307312.7_Missense_Mutation_p.R716H			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1015	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				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						GTCTCGAGAGCGTGGAGAGGA	0.443																																							0											0													159	157	157					3																	33576832		2002	4177	6179	SO:0001583	missense	0			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.3704G>A	3.37:g.33576832C>T	ENSP00000419974:p.Arg1235His		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R1234H	ENST00000468888.2	37	c.3701		3	.	.	.	.	.	.	.	.	.	.	C	34	5.335949	0.95758	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T	0.23950	1.89;1.88;1.89	5.22	5.22	0.72569	Armadillo-type fold (1);	0.111526	0.64402	D	0.000007	T	0.52419	0.1733	M	0.73217	2.22	0.53005	D	0.999965	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77004	0.935;0.989;0.988	T	0.54214	-0.8327	10	0.59425	D	0.04	-8.0547	18.7669	0.91876	0.0:1.0:0.0:0.0	.	1015;1226;1234	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	H	1235;1234;1226;716;1004;1014;994	ENSP00000419974:R1235H;ENSP00000382297:R1234H;ENSP00000352581:R1226H	ENSP00000304743:R716H	R	-	2	0	CLASP2	33551836	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.063000	0.76714	2.448000	0.82819	0.591000	0.81541	CGC	0	superfamily_ARM-type_fold		0.443	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	protein_coding	OTTHUMT00000344320.4	48	141	0	0.70	0	1	C	NM_001207044	0	0		33576832	-1	no_errors	ENST00000399362	ensembl	human	known	74_37	missense	25	128	39.02	20.50	16	33	SNP	1	T	T	33576832	C	T	33576832	3	4	115	1	0	0	0	0	1	0	0	0	3455	768	27	1	864	1	CLASP2	3	33576832	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	33136763	33576832	164445598	14	2268											
DNAH1	25981	genome.wustl.edu	37	chr3	52433570	52433570	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctacccacaggtgatgtttGaggcaccatcagagttaaca	12	10	9	10	0	2	3	1	2	1	1	2	3	2	3	2	2	2	3	2	2	2	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr3:52433570G>C	ENST00000420323.2	+	77	12712	c.12451G>C	c.(12451-12453)Gag>Cag	p.E4151Q		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4216					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)		GGTGATGTTTGAGGCACCATC	0.517																																							0											0													40	41	41					3																	52433570		1974	4152	6126	SO:0001583	missense	0			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.12451G>C	3.37:g.52433570G>C	ENSP00000401514:p.Glu4151Gln		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.E4151Q	ENST00000420323.2	37	c.12451	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	6.795	0.515623	0.12944	.	.	ENSG00000114841	ENST00000420323	T	0.08282	3.11	5.42	-5.27	0.02763	.	1.085380	0.07105	N	0.841098	T	0.05410	0.0143	L	0.28458	0.855	0.09310	N	1	B	0.06786	0.001	B	0.16289	0.015	T	0.47898	-0.9081	10	0.12430	T	0.62	.	9.6313	0.39780	0.1541:0.2231:0.5609:0.0619	.	4151	C9JXH6	.	Q	4151	ENSP00000401514:E4151Q	ENSP00000401514:E4151Q	E	+	1	0	DNAH1	52408610	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.632000	0.05489	-0.507000	0.06549	-0.165000	0.13383	GAG	0	pfam_Dynein_heavy_dom		0.517	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	protein_coding	OTTHUMT00000350816.1	54	285	0	0.00	0	0	G	NM_015512	0	0		52433570	1	no_errors	ENST00000420323	ensembl	human	known	74_37	missense	43	177	10.42	13.66	5	28	SNP	0	C	C	52433570	G	C	52433570	3	2	115	1	0	0	0	0	1	0	0	0	4597	1291	45	5	12753	5	DNAH1	3	52433570	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	18856738	52433570	145588860	15	2269											
ABI3BP	25890	genome.wustl.edu	37	chr3	100569540	100569540	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgttcaagagttctagaagTtttaggtgggatagaatcca	12	13	11	5	0	2	3	1	0	1	3	3	4	3	4	1	2	0	3	1	2	6	6			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr3:100569540T>G	ENST00000284322.5	-	14	1373	c.1264A>C	c.(1264-1266)Act>Cct	p.T422P	ABI3BP_ENST00000471714.1_Missense_Mutation_p.T471P|ABI3BP_ENST00000495063.1_Missense_Mutation_p.T471P	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	422	Pro-rich.				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						GTTCTAGAAGTTTTAGGTGGG	0.343																																							0											0													135	132	133					3																	100569540		1808	4069	5877	SO:0001583	missense	0			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.1264A>C	3.37:g.100569540T>G	ENSP00000284322:p.Thr422Pro		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T422P	ENST00000284322.5	37	c.1264	CCDS46880.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	18.74|18.74|18.74	3.688797|3.688797|3.688797	0.68271|0.68271|0.68271	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000459682|ENST00000471714;ENST00000284322;ENST00000495063	T|.|T;T;T	0.59083|.|0.60797	0.29|.|0.16;0.16;0.16	5.87|5.87|5.87	4.72|4.72|4.72	0.59763|0.59763|0.59763	.|.|.	.|.|0.186770	.|.|0.48767	.|.|D	.|.|0.000176	T|T|T	0.63908|0.63908|0.63908	0.2551|0.2551|0.2551	M|M|M	0.68593|0.68593|0.68593	2.085|2.085|2.085	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D	.|.|0.89917	.|.|1.0;0.995	.|.|D;P	.|.|0.71656	.|.|0.974;0.844	T|T|T	0.66168|0.66168|0.66168	-0.5991|-0.5991|-0.5991	7|5|10	0.45353|.|0.05833	T|.|T	0.12|.|0.94	-18.4918|-18.4918|-18.4918	6.2832|6.2832|6.2832	0.21019|0.21019|0.21019	0.1422:0.0744:0.0:0.7835|0.1422:0.0744:0.0:0.7835|0.1422:0.0744:0.0:0.7835	.|.|.	.|.|471;422	.|.|Q5JPC9;Q7Z7G0	.|.|.;TARSH_HUMAN	N|T|P	99|47|471;422;471	ENSP00000437031:K99N|.|ENSP00000420524:T471P;ENSP00000284322:T422P;ENSP00000433993:T471P	ENSP00000437031:K99N|.|ENSP00000284322:T422P	K|N|T	-|-|-	3|2|1	2|0|0	ABI3BP|ABI3BP|ABI3BP	102052230|102052230|102052230	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	1.686000|1.686000|1.686000	0.37669|0.37669|0.37669	2.371000|2.371000|2.371000	0.80710|0.80710|0.80710	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AAA|AAC|ACT	0	NULL		0.343	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	protein_coding	OTTHUMT00000353260.1	42	291	0	0.00	0	0	T		0	0		100569540	-1	no_errors	ENST00000284322	ensembl	human	known	74_37	missense	31	240	31.11	21.75	14	67	SNP	1	G	G	100569540	T	G	100569540	3	3	115	1	0	0	0	0	1	0	0	0	91	1725	60	5	2051	5	ABI3BP	3	100569540	Missense_Mutation	SNP	T	TCGA-ZC-AAA7-01A-11D-A428-09	48135970	100569540	97452890	16	2270											
MED28	80306	genome.wustl.edu	37	chr4	17616306	17616306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccactagggggtatgttttCtgggcagccacccggtcccc	5	10	12	14	1	1	0	0	0	1	0	3	0	3	0	5	4	1	3	5	4	2	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr4:17616306C>T	ENST00000237380.7	+	1	53	c.29C>T	c.(28-30)tCt>tTt	p.S10F	AC006160.5_ENST00000511010.1_RNA	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	10					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)				lung(6)|skin(2)	8						GGTATGTTTTCTGGGCAGCCA	0.642																																							0											0													25	31	29					4																	17616306		2201	4299	6500	SO:0001583	missense	0			AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.29C>T	4.37:g.17616306C>T	ENSP00000237380:p.Ser10Phe		Q9BZJ5	Missense_Mutation	SNP	pfam_Mediator_Med28	p.S10F	ENST00000237380.7	37	c.29	CCDS33963.1	4	.	.	.	.	.	.	.	.	.	.	C	14.55	2.570008	0.45798	.	.	ENSG00000118579	ENST00000237380;ENST00000503945	.	.	.	5.46	4.59	0.56863	.	0.452396	0.27294	N	0.020024	T	0.31765	0.0807	N	0.24115	0.695	0.21984	N	0.999434	P	0.38642	0.641	B	0.35413	0.202	T	0.38394	-0.9663	9	0.72032	D	0.01	-0.7322	17.5279	0.87805	0.0:0.8265:0.1735:0.0	.	10	Q9H204	MED28_HUMAN	F	10;7	.	ENSP00000237380:S10F	S	+	2	0	MED28	17225404	0.006000	0.16342	0.900000	0.35374	0.280000	0.26924	2.210000	0.42816	2.840000	0.97914	0.655000	0.94253	TCT	0	NULL		0.642	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED28	protein_coding	OTTHUMT00000360055.3	69	120	0	0.00	0	0	C	NM_025205	0	0		17616306	1	no_errors	ENST00000237380	ensembl	human	known	74_37	missense	71	56	15.48	20.00	13	14	SNP	0.569	T	T	17616306	C	T	17616306	3	4	115	1	0	0	0	0	1	0	0	0	9446	913	32	3	31	3	MED28	4	17616306	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09		17616306	173537970	17	2271											
TXK	7294	genome.wustl.edu	37	chr4	48114451	48114451	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagtgccttgacttggaTcttctcttcagcaacctcag	10	13	7	11	0	4	1	2	1	2	0	5	2	4	2	2	1	3	1	2	1	3	5			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr4:48114451T>A	ENST00000264316.4	-	4	338	c.253A>T	c.(253-255)Atc>Ttc	p.I85F	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	85	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						TTGACTTGGATCTTCTCTTCA	0.478																																							0											0													135	140	138					4																	48114451		2203	4300	6503	SO:0001583	missense	0			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.253A>T	4.37:g.48114451T>A	ENSP00000264316:p.Ile85Phe		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.I85F	ENST00000264316.4	37	c.253	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	T	9.280	1.047839	0.19827	.	.	ENSG00000074966	ENST00000264316;ENST00000506073	T;T	0.16897	2.31;2.31	5.12	5.12	0.69794	Src homology-3 domain (3);	0.205916	0.31859	N	0.006959	T	0.12347	0.0300	L	0.31207	0.915	0.80722	D	1	P;B	0.42409	0.779;0.411	B;B	0.36030	0.216;0.096	T	0.03287	-1.1052	10	0.59425	D	0.04	.	11.2471	0.49004	0.0:0.0:0.0:1.0	.	85;85	E7EQN8;P42681	.;TXK_HUMAN	F	85	ENSP00000264316:I85F;ENSP00000422798:I85F	ENSP00000264316:I85F	I	-	1	0	TXK	47809208	0.973000	0.33851	0.923000	0.36655	0.859000	0.49053	1.346000	0.33964	2.166000	0.68216	0.460000	0.39030	ATC	0	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.478	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	protein_coding	OTTHUMT00000219869.7	50	234	0	0.00	0	0	T	NM_003328	0	0		48114451	-1	no_errors	ENST00000264316	ensembl	human	known	74_37	missense	33	126	35.29	27.59	18	48	SNP	0.995	A	A	48114451	T	A	48114451	3	1	115	1	0	0	0	0	1	0	0	0	16783	1435	50	5	1378	5	TXK	4	48114451	Missense_Mutation	SNP	T	TCGA-ZC-AAA7-01A-11D-A428-09	30498145	48114451	143039825	18	2272											
PDCL2	132954	genome.wustl.edu	37	chr4	56428640	56428640	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttctatctgaccattttTatacacaaaaattgttggta	12	16	6	7	0	2	1	0	1	2	0	2	1	2	1	1	2	1	3	1	2	6	9			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr4:56428640T>A	ENST00000295645.4	-	5	604	c.502A>T	c.(502-504)Aaa>Taa	p.K168*		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	168	Thioredoxin fold. {ECO:0000250}.									endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TGACCATTTTTATACACAAAA	0.308																																							0											0													69	66	67					4																	56428640		1805	4074	5879	SO:0001587	stop_gained	0			BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.502A>T	4.37:g.56428640T>A	ENSP00000295645:p.Lys168*		A8MWA2|B9ZVQ9	Nonsense_Mutation	SNP	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	p.K168*	ENST00000295645.4	37	c.502	CCDS47059.1	4	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037542	0.93630	.	.	ENSG00000163440	ENST00000295645	.	.	.	5.85	5.85	0.93711	.	0.076727	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8146	10.5502	0.45083	0.0:0.0718:0.0:0.9281	.	.	.	.	X	168	.	ENSP00000295645:K168X	K	-	1	0	PDCL2	56123397	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.579000	0.46059	2.235000	0.73313	0.402000	0.26972	AAA	0	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold		0.308	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL2	protein_coding	OTTHUMT00000361659.1	58	213	0	0.47	0	1	T	NM_152401	0	0		56428640	-1	no_errors	ENST00000295645	ensembl	human	known	74_37	nonsense	28	189	39.13	25.88	18	66	SNP	1	A	A	56428640	T	A	56428640	4	1	115	1	0	0	0	0	0	1	0	0	11627	1763	61	5	231	5	PDCL2	4	56428640	Nonsense_Mutation	SNP	T	TCGA-ZC-AAA7-01A-11D-A428-09	8314189	56428640	134725636	19	2273											
LPHN3	23284	genome.wustl.edu	37	chr4	62778447	62778447	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggattcagcttcagaaaaGagagcgctcttgcagagcct	12	9	11	9	1	3	3	2	0	1	3	3	5	3	4	1	1	4	3	1	1	2	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr4:62778447G>C	ENST00000514591.1	+	12	2209	c.1880G>C	c.(1879-1881)aGa>aCa	p.R627T	LPHN3_ENST00000507625.1_Missense_Mutation_p.R695T|LPHN3_ENST00000507164.1_Missense_Mutation_p.R695T|LPHN3_ENST00000504896.1_Missense_Mutation_p.R627T|LPHN3_ENST00000506720.1_Missense_Mutation_p.R695T|LPHN3_ENST00000511324.1_Missense_Mutation_p.R695T|LPHN3_ENST00000545650.1_Missense_Mutation_p.R627T|LPHN3_ENST00000512091.2_Missense_Mutation_p.R627T|LPHN3_ENST00000514996.1_Missense_Mutation_p.R627T|LPHN3_ENST00000508946.1_Missense_Mutation_p.R627T|LPHN3_ENST00000506746.1_Missense_Mutation_p.R695T|LPHN3_ENST00000506700.1_Missense_Mutation_p.R627T|LPHN3_ENST00000509896.1_Missense_Mutation_p.R695T|LPHN3_ENST00000508693.1_Missense_Mutation_p.R695T|LPHN3_ENST00000514157.1_Missense_Mutation_p.R627T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	623					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						CTTCAGAAAAGAGAGCGCTCT	0.368																																							0											0													172	154	160					4																	62778447		1834	4090	5924	SO:0001583	missense	0			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.1880G>C	4.37:g.62778447G>C	ENSP00000422533:p.Arg627Thr		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.R695T	ENST00000514591.1	37	c.2084	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818812	0.71028	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;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	0.72835	-0.65;-0.62;-0.68;-0.67;-0.64;-0.62;-0.66;-0.67;-0.63;-0.64;-0.65;-0.68;-0.69;-0.68;-0.66	5.63	5.63	0.86233	.	.	.	.	.	T	0.81240	0.4781	L	0.60455	1.87	0.52099	D	0.999946	D;D	0.63046	0.992;0.978	P;P	0.62491	0.903;0.736	T	0.82494	-0.0429	9	0.87932	D	0	.	18.655	0.91450	0.0:0.0:1.0:0.0	.	627;627	E9PE04;Q9HAR2-2	.;.	T	627;627;695;695;627;627;627;695;695;695;627;627;627;695;695;627	ENSP00000423388:R627T;ENSP00000422533:R627T;ENSP00000423787:R695T;ENSP00000425033:R695T;ENSP00000424120:R627T;ENSP00000439831:R627T;ENSP00000421476:R695T;ENSP00000424030:R695T;ENSP00000421372:R695T;ENSP00000425201:R627T;ENSP00000423434:R627T;ENSP00000421627:R627T;ENSP00000420931:R695T;ENSP00000425884:R695T;ENSP00000424258:R627T	ENSP00000280009:R627T	R	+	2	0	LPHN3	62461042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.959000	0.93110	2.645000	0.89757	0.561000	0.74099	AGA	0	pfam_DUF3497		0.368	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	protein_coding	OTTHUMT00000361765.1	68	220	1.45	0.45	1	1	G		0	0		62778447	1	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	51	177	7.27	10.50	4	21	SNP	1	C	C	62778447	G	C	62778447	3	2	115	1	0	0	0	0	1	0	0	0	8917	942	33	5	1918	5	LPHN3	4	62778447	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	6349807	62778447	128375829	20	2274											
BANK1	55024	genome.wustl.edu	37	chr4	102751113	102751113	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcggcatttggagttgctGaacttaacgtcttacaaatg	10	15	9	7	2	1	1	0	1	1	0	2	2	1	2	0	2	4	3	0	2	4	5	rs576573995		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr4:102751113G>A	ENST00000322953.4	+	2	493	c.219G>A	c.(217-219)ctG>ctA	p.L73L	BANK1_ENST00000428908.1_Intron|BANK1_ENST00000504592.1_Silent_p.L58L|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000444316.2_Silent_p.L43L	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	73	Interaction with ITPR2.				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)		TGGAGTTGCTGAACTTAACGT	0.363																																							0											0													84	84	84					4																	102751113		2203	4300	6503	SO:0001819	synonymous_variant	0			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.219G>A	4.37:g.102751113G>A			A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	superfamily_Ankyrin_rpt-contain_dom	p.L73	ENST00000322953.4	37	c.219	CCDS34038.1	4																																																																																			0	NULL		0.363	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	protein_coding	OTTHUMT00000363161.1	151	266	0	0.00	0	0	G	NM_017935	0	0		102751113	1	no_errors	ENST00000322953	ensembl	human	known	74_37	silent	87	217	22.32	19.03	25	51	SNP	0.021	A	A	102751113	G	A	102751113	2	1	115	1	0	0	0	0	0	0	0	1	1309	1277	45	3		3	BANK1	4	102751113	Silent	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	39972666	102751113	88403163	21	2275											
IRF1	3659	genome.wustl.edu	37	chr5	131822507	131822508	+	Frame_Shift_Ins	INS	-	-	A																															ttcctcttggccttgctcttINSagcatctcggctggacttcg																										TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr5:131822507_131822508insA	ENST00000245414.4	-	5	651_652	c.393_394insT	c.(391-396)gctaagfs	p.K132fs	IRF1_ENST00000405885.2_Frame_Shift_Ins_p.K132fs|IRF1_ENST00000463784.1_5'UTR	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	132					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|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 adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCTTGCTCTTAGCATCTCGGC	0.594																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.394dupT	5.37:g.131822508_131822508dupA	ENSP00000245414:p.Lys132fs		Q96GG7	Frame_Shift_Ins	INS	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.K131fs	ENST00000245414.4	37	c.394_393	CCDS4155.1	5																																																																																			0	pirsf_Interferon_reg_fac-1/2		0.594	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	protein_coding	OTTHUMT00000132340.1	20	211	0	0.00	0	0	0	NM_002198	0	0		131822508	-1	no_errors	ENST00000245414	ensembl	human	known	74_37	frame_shift_ins	9	120	35.71	32.58	5	58	INS	0.963:0.727	A	A	131822508	-	A	131822507	7	5	115	1	0	1	1	0	0	0	0	0	7827	1763	61	0	607	0	IRF1	5	131822507	Frame_Shift_Ins	INS	-	TCGA-ZC-AAA7-01A-11D-A428-09		131822507	49092753	22	2276											
PCDHB7	56129	genome.wustl.edu	37	chr5	140554630	140554630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacatctggtggacttgagCggcaccgggaccctatccca	8	7	12	14	3	1	1	0	1	1	0	2	4	2	3	3	4	1	1	3	4	1	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr5:140554630C>T	ENST00000231137.3	+	1	2388	c.2214C>T	c.(2212-2214)agC>agT	p.S738S	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	738					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S738R(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)			TGGACTTGAGCGGCACCGGGA	0.617																																							0											1	Substitution - Missense(1)	lung(1)											83	130	114					5																	140554630		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2214C>T	5.37:g.140554630C>T			A1L3Y8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S738	ENST00000231137.3	37	c.2214	CCDS4249.1	5																																																																																			0	NULL		0.617	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	protein_coding	OTTHUMT00000251803.2	111	84	0.89	0.00	1	0	C	NM_018940	0	0		140554630	1	no_errors	ENST00000231137	ensembl	human	known	74_37	silent	76	106	16.3	8.55	15	10	SNP	0.011	T	T	140554630	C	T	140554630	2	4	115	1	0	0	0	0	0	0	0	1	11547	767	27	1		1	PCDHB7	5	140554630	Silent	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	8732123	140554630	40360630	23	2277											
CCDC90A	63933	genome.wustl.edu	37	chr6	13807194	13807194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactaaggcatgagtgtcGaagtagagtttcctgctccc	10	10	10	11	1	0	2	0	1	0	1	3	3	2	2	2	1	1	4	2	1	3	3	rs61659142	byFrequency	TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr6:13807194G>T	ENST00000379170.4	-	2	636	c.498C>A	c.(496-498)ttC>ttA	p.F166L	MCUR1_ENST00000359495.2_Missense_Mutation_p.F166L	NM_001031713.3	NP_001026883.1	Q96AQ8	MCUR1_HUMAN	mitochondrial calcium uniporter regulator 1	166					calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	integral component of mitochondrial inner membrane (GO:0031305)											CATGAGTGTCGAAGTAGAGTT	0.448																																							0											0													181	153	163					6																	13807194		2203	4300	6503	SO:0001583	missense	0			BC016850	CCDS35495.1	6p23	2013-03-13	2013-03-13	2013-03-13	ENSG00000050393	ENSG00000050393			21097	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 79", "coiled-coil domain containing 90A"	C6orf79, CCDC90A		23178883	Standard	NM_001031713		Approved	FLJ20958	uc003nbc.2	Q96AQ8	OTTHUMG00000014279	ENST00000379170.4:c.498C>A	6.37:g.13807194G>T	ENSP00000368468:p.Phe166Leu		Q96JS7|Q9H7F8	Missense_Mutation	SNP	pfam_DUF1640	p.F166L	ENST00000379170.4	37	c.498	CCDS35495.1	6	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797300	0.50208	.	.	ENSG00000050393	ENST00000379170;ENST00000359495	T;T	0.50277	0.75;0.82	5.34	-4.34	0.03666	.	0.053636	0.85682	N	0.000000	T	0.54759	0.1878	M	0.89287	3.02	0.51233	D	0.999917	D	0.89917	1.0	D	0.91635	0.999	T	0.63377	-0.6651	10	0.52906	T	0.07	-8.8761	7.9036	0.29748	0.4281:0.1257:0.4462:0.0	.	166	Q96AQ8	CC90A_HUMAN	L	166	ENSP00000368468:F166L;ENSP00000352475:F166L	ENSP00000352475:F166L	F	-	3	2	CCDC90A	13915173	0.764000	0.28473	0.988000	0.46212	0.497000	0.33675	-0.171000	0.09883	-0.525000	0.06391	-1.264000	0.01445	TTC	0	pfam_DUF1640		0.448	MCUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCUR1	protein_coding	OTTHUMT00000039909.3	87	123	0	0.00	0	0	G	NM_022102	0	0		13807194	-1	no_errors	ENST00000379170	ensembl	human	known	74_37	missense	23	58	32.35	34.83	11	31	SNP	0.983	T	T	13807194	G	T	13807194	3	4	115	1	0	0	0	0	1	0	0	0	2868	1049	37	5	613	5	CCDC90A	6	13807194	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09		13807194	157307873	24	2278											
HIST1H2BB	3018	genome.wustl.edu	37	chr6	26043842	26043842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttagtgatagccttcttaGaaccctttttaggggctgga	8	14	10	9	0	1	2	0	1	1	1	1	3	1	3	3	3	2	1	3	3	5	7			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr6:26043842G>A	ENST00000357905.2	-	1	43	c.44C>T	c.(43-45)tCt>tTt	p.S15F	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	15					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGCCTTCTTAGAACCCTTTTT	0.453																																							0											0													91	91	91					6																	26043842		2203	4300	6503	SO:0001583	missense	0			AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"Histones / Replication-dependent"	4751	protein-coding gene	gene with protein product		602803	"H2B histone family, member F", "histone 1, H2bb"	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.44C>T	6.37:g.26043842G>A	ENSP00000350580:p.Ser15Phe		Q4KN36	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S15F	ENST00000357905.2	37	c.44	CCDS4575.1	6	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880967	0.51801	.	.	ENSG00000196226	ENST00000357905	T	0.22945	1.93	5.34	4.42	0.53409	Histone-fold (2);	0.000000	0.64402	U	0.000018	T	0.30070	0.0753	L	0.46741	1.465	0.44018	D	0.996737	D	0.69078	0.997	D	0.71656	0.974	T	0.04781	-1.0927	10	0.49607	T	0.09	.	12.4497	0.55671	0.0864:0.0:0.9136:0.0	.	15	P33778	H2B1B_HUMAN	F	15	ENSP00000350580:S15F	ENSP00000350580:S15F	S	-	2	0	HIST1H2BB	26151821	1.000000	0.71417	0.074000	0.20217	0.001000	0.01503	9.478000	0.97927	1.269000	0.44280	-0.345000	0.07892	TCT	0	superfamily_Histone-fold		0.453	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BB	protein_coding	OTTHUMT00000040083.1	56	181	0	0.00	0	0	G	NM_021062	0	0		26043842	-1	no_errors	ENST00000357905	ensembl	human	known	74_37	missense	34	68	19.05	33.01	8	34	SNP	0.989	A	A	26043842	G	A	26043842	3	1	115	1	0	0	0	0	1	0	0	0	7141	942	33	3	340	3	HIST1H2BB	6	26043842	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	12236648	26043842	145071225	25	2279											
SGK1	6446	genome.wustl.edu	37	chr6	134491476	134491476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcagcttccttgacgctgGctgtgacgaggacgctgtca	6	9	14	12	4	1	2	1	2	0	0	2	4	2	3	1	3	1	5	1	3	0	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr6:134491476G>A	ENST00000237305.7	-	12	1314	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	SGK1_ENST00000528577.1_Missense_Mutation_p.A437V|SGK1_ENST00000475719.2_Missense_Mutation_p.A365V|SGK1_ENST00000367857.5_Missense_Mutation_p.A399V|SGK1_ENST00000413996.3_Missense_Mutation_p.A423V|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000367858.5_Missense_Mutation_p.A504V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	409	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTTGACGCTGGCTGTGACGAG	0.562																																							0											0													74	70	71					6																	134491476		2203	4300	6503	SO:0001583	missense	0			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1226C>T	6.37:g.134491476G>A	ENSP00000237305:p.Ala409Val		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.A504V	ENST00000237305.7	37	c.1511	CCDS5170.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300600	0.81136	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	6.17	6.17	0.99709	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.045861	0.85682	D	0.000000	T	0.62889	0.2465	M	0.80616	2.505	0.80722	D	1	B;B;B;B;B;B	0.34161	0.439;0.044;0.058;0.191;0.439;0.228	B;B;B;B;B;B	0.42188	0.183;0.05;0.137;0.183;0.379;0.191	T	0.62205	-0.6903	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	437;423;365;399;504;409	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	V	504;423;409;399;437;365	ENSP00000356832:A504V;ENSP00000396242:A423V;ENSP00000237305:A409V;ENSP00000356831:A399V;ENSP00000434450:A437V;ENSP00000434302:A365V	ENSP00000237305:A409V	A	-	2	0	SGK1	134533169	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.828000	0.99408	2.941000	0.99782	0.655000	0.94253	GCC	0	pfam_Pkinase_C,smart_AGC-kinase_C		0.562	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK1	protein_coding	OTTHUMT00000042312.2	81	166	0	0.60	0	1	G		0	0		134491476	-1	no_errors	ENST00000367858	ensembl	human	known	74_37	missense	37	62	31.48	38.83	17	40	SNP	1	A	A	134491476	G	A	134491476	3	1	115	1	0	0	0	0	1	0	0	0	14207	1203	42	3	73	3	SGK1	6	134491476	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	108447634	134491476	36623591	26	2280											
TNFAIP3	7128	genome.wustl.edu	37	chr6	138192383	138192386	+	Frame_Shift_Del	DEL	CCTC	CCTC	-																															caatggctgaacaagtccttCctcaggctttgtatttgagc																										TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	CCTC	CCTC	CCTC	-	CCTC	CCTC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr6:138192383_138192386delCCTC	ENST00000237289.4	+	2	85_88	c.19_22delCCTC	c.(19-24)cctcagfs	p.PQ7fs		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	7					apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|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 interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|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 protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACAAGTCCTTCCTCAGGCTTTGTA	0.387			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"						OREG0031869	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																									GBM(130;153 1739 22295 28918 47987)		0		Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)																																								SO:0001589	frameshift_variant	0			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.19_22delCCTC	6.37:g.138192383_138192386delCCTC	ENSP00000237289:p.Pro7fs	1639	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Frame_Shift_Del	DEL	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.P7fs	ENST00000237289.4	37	c.19_22	CCDS5187.1	6																																																																																			0	NULL		0.387	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	protein_coding	OTTHUMT00000042414.1	24	161	0	0.00	0	0	CCTC		0	0		138192386	1	no_errors	ENST00000237289	ensembl	human	known	74_37	frame_shift_del	16	96	30.43	21.95	7	27	DEL	1.000:1.000:0.996:1.000	0	-	138192386	CCTC	-	138192383	7	5	115	1	0	1	0	1	0	0	0	0	16271	855	30	0	21	0	TNFAIP3	6	138192383	Frame_Shift_Del	DEL	CCTC	TCGA-ZC-AAA7-01A-11D-A428-09	3700907	138192383	32922684	27	2281											
MLLT4	4301	genome.wustl.edu	37	chr6	168319553	168319553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaagatggttattcttgtGatgttgtcagaaacattcca	12	14	9	6	0	2	4	1	1	1	3	3	4	3	4	1	1	1	2	1	1	3	5			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr6:168319553G>A	ENST00000447894.2	+	20	2827	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N	MLLT4_ENST00000366806.2_Missense_Mutation_p.D943N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D927N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D950N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D942N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D943N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D943N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	943					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)		TTATTCTTGTGATGTTGTCAG	0.478			T	MLL	AL																																		0		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													96	84	88					6																	168319553		2203	4300	6503	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2827G>A	6.37:g.168319553G>A	ENSP00000404595:p.Asp943Asn		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.D943N	ENST00000447894.2	37	c.2827		6	.	.	.	.	.	.	.	.	.	.	G	35	5.573549	0.96553	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894;ENST00000497596	T;T;T;T;T;T;T	0.08008	3.33;3.25;3.33;3.34;3.14;3.22;3.19	5.5	5.5	0.81552	.	0.057322	0.64402	D	0.000002	T	0.23846	0.0577	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.992;0.997	T	0.00832	-1.1548	10	0.87932	D	0	1.3821	19.7664	0.96346	0.0:0.0:1.0:0.0	.	943;942;943;927	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	N	943;950;943;943;927;943;942;943;106	ENSP00000341118:D943N;ENSP00000252692:D950N;ENSP00000375956:D943N;ENSP00000355771:D943N;ENSP00000375960:D927N;ENSP00000383623:D942N;ENSP00000404595:D943N	ENSP00000345834:D943N	D	+	1	0	MLLT4	168062402	1.000000	0.71417	0.775000	0.31657	0.997000	0.91878	9.211000	0.95120	2.735000	0.93741	0.655000	0.94253	GAT	0	NULL		0.478	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	protein_coding	OTTHUMT00000372077.1	33	274	0	0.00	0	0	G	NM_005936	0	0		168319553	1	no_errors	ENST00000366806	ensembl	human	known	74_37	missense	13	95	18.75	15.18	3	17	SNP	1	A	A	168319553	G	A	168319553	3	1	115	1	0	0	0	0	1	0	0	0	9629	1290	45	3	2905	3	MLLT4	6	168319553	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	30127170	168319553	2795514	28	2282											
USP42	84132	genome.wustl.edu	37	chr7	6189291	6189291	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagtcctaacgggaattcCagtgtcaacagggctagtcc	10	9	11	11	2	1	0	1	0	0	0	5	2	4	1	3	2	2	1	3	2	4	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr7:6189291C>T	ENST00000306177.5	+	13	1622	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	488					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.S616S(1)|p.S488S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ACGGGAATTCCAGTGTCAACA	0.463																																							0											2	Substitution - coding silent(2)	lung(2)											134	128	130					7																	6189291		1946	4136	6082	SO:0001819	synonymous_variant	0			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1464C>T	7.37:g.6189291C>T			A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S488	ENST00000306177.5	37	c.1464	CCDS47535.1	7																																																																																			0	NULL		0.463	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	protein_coding	OTTHUMT00000324262.3	52	256	0	0.00	0	0	C	XM_166526	0	0		6189291	1	no_errors	ENST00000306177	ensembl	human	known	74_37	silent	43	166	27.12	29.54	16	70	SNP	0.005	T	T	6189291	C	T	6189291	2	4	115	1	0	0	0	0	0	0	0	1	17070	581	21	3		3	USP42	7	6189291	Silent	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09		6189291	152949372	29	2283											
C7orf53	286006	genome.wustl.edu	37	chr7	112127106	112127106	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgtgatatttctaataGgtaagtaccaccacaggttt	11	16	7	7	1	1	1	0	1	1	0	2	1	1	1	2	2	1	3	2	2	5	9			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr7:112127106G>T	ENST00000312849.4	+	3	617	c.256G>T	c.(256-258)Gtt>Ttt	p.V86F	LSMEM1_ENST00000439068.2_Splice_Site_p.V86F|LSMEM1_ENST00000486022.1_3'UTR	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	86						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											ATTTCTAATAGGTAAGTACCA	0.413																																							0											0													147	140	142					7																	112127106		2203	4300	6503	SO:0001630	splice_region_variant	0			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 53"	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.256+1G>T	7.37:g.112127106G>T			Q49AR6	Missense_Mutation	SNP	NULL	p.V86F	ENST00000312849.4	37	c.256	CCDS5756.1	7	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803559	0.31869	.	.	ENSG00000181016	ENST00000439068;ENST00000312849	.	.	.	4.97	1.3	0.21679	.	0.301678	0.28442	N	0.015324	T	0.29620	0.0739	N	0.12182	0.205	0.80722	D	1	B	0.25441	0.126	B	0.25506	0.061	T	0.04946	-1.0916	9	0.54805	T	0.06	-15.5756	6.0836	0.19954	0.6858:0.0:0.3142:0.0	.	86	Q8N8F7	CG053_HUMAN	F	86	.	ENSP00000323304:V86F	V	+	1	0	C7orf53	111914342	0.947000	0.32204	0.878000	0.34440	0.772000	0.43724	0.067000	0.14510	0.118000	0.18165	-0.290000	0.09829	GTT	0	NULL		0.413	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LSMEM1	protein_coding	OTTHUMT00000338716.2	87	346	0	0.00	0	0	G	NM_182597	0	0	Missense_Mutation	112127106	1	no_errors	ENST00000312849	ensembl	human	known	74_37	missense	56	188	33.72	21.81	29	53	SNP	0.973	T	T	112127106	G	T	112127106	5	4	115	1	0	0	0	0	0	0	1	0	2402	1014	35	5	262	5	C7orf53	7	112127106	Splice_Site	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	105937815	112127106	47011557	30	2284											
CHRM2	1129	genome.wustl.edu	37	chr7	136699906	136699906	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacctgtggtgtgtgacctTtggctagccctggactatgt	5	13	14	9	0	0	1	0	1	0	0	0	3	0	3	3	4	1	1	3	4	2	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr7:136699906T>C	ENST00000445907.2	+	3	822	c.294T>C	c.(292-294)ctT>ctC	p.L98L	CHRM2_ENST00000320658.5_Silent_p.L98L|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Silent_p.L98L|CHRM2_ENST00000453373.1_Silent_p.L98L|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Silent_p.L98L|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Silent_p.L98L|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	98					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)	TGTGTGACCTTTGGCTAGCCC	0.483																																							0											0													189	178	182					7																	136699906		2203	4300	6503	SO:0001819	synonymous_variant	0				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.294T>C	7.37:g.136699906T>C			Q4VBK6|Q9P1X9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.L98	ENST00000445907.2	37	c.294	CCDS5843.1	7																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	protein_coding	OTTHUMT00000341010.1	33	273	0	0.00	0	0	T		0	0		136699906	1	no_errors	ENST00000320658	ensembl	human	known	74_37	silent	15	187	25	16.37	5	37	SNP	0.818	C	C	136699906	T	C	136699906	2	2	115	1	0	0	0	0	0	0	0	1	3377	1828	64	3		3	CHRM2	7	136699906	Silent	SNP	T	TCGA-ZC-AAA7-01A-11D-A428-09	24572800	136699906	22438757	31	2285											
PTPRN2	5799	genome.wustl.edu	37	chr7	157369457	157369457	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacaccagatgtgctcGgagaccaggttcacctggca	9	8	10	14	1	2	2	2	0	0	2	4	3	3	2	4	3	1	3	4	3	0	1			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr7:157369457G>A	ENST00000389418.4	-	19	2640	c.2631C>T	c.(2629-2631)tcC>tcT	p.S877S	PTPRN2_ENST00000389416.4_Silent_p.S860S|PTPRN2_ENST00000404321.2_Silent_p.S900S|PTPRN2_ENST00000389413.3_Silent_p.S848S|PTPRN2_ENST00000409483.1_Silent_p.S839S|MIR153-2_ENST00000385225.1_RNA	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	877	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			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)		AGATGTGCTCGGAGACCAGGT	0.592																																							0											0													55	42	47					7																	157369457		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2631C>T	7.37:g.157369457G>A			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.S900	ENST00000389418.4	37	c.2700	CCDS5947.1	7																																																																																			0	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.592	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	protein_coding	OTTHUMT00000353214.1	19	92	0	0.00	0	0	G		0	0		157369457	-1	no_errors	ENST00000404321	ensembl	human	known	74_37	silent	11	59	21.43	18.06	3	13	SNP	0.71	A	A	157369457	G	A	157369457	2	1	115	1	0	0	0	0	0	0	0	1	12808	1103	39	2		2	PTPRN2	7	157369457	Silent	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	20669551	157369457	1769206	32	2286											
C8orf47	203111	genome.wustl.edu	37	chr8	99101420	99101420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgtacaaagggaaagcCgtcctcccttacaaaagctc	14	7	8	12	1	0	0	0	0	0	0	3	1	2	1	3	1	4	3	3	1	7	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr8:99101420C>T	ENST00000318528.3	+	2	534	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		59			R -> H (in dbSNP:rs7833473).							kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AAGGGAAAGCCGTCCTCCCTT	0.498																																							0											0													95	87	90					8																	99101420		2203	4300	6503	SO:0001583	missense	0																														ENST00000318528.3:c.175C>T	8.37:g.99101420C>T	ENSP00000315614:p.Arg59Cys		G3V1K4|Q8N1L8	Missense_Mutation	SNP	NULL	p.R59C	ENST00000318528.3	37	c.175	CCDS34929.1	8	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034244	0.35893	.	.	ENSG00000177459	ENST00000318528	T	0.24538	1.85	4.88	3.94	0.45596	.	1.222390	0.06003	N	0.648042	T	0.15132	0.0365	N	0.08118	0	0.20821	N	0.999843	P	0.44044	0.825	B	0.37780	0.258	T	0.07424	-1.0773	10	0.54805	T	0.06	-16.7164	9.9314	0.41525	0.2025:0.7975:0.0:0.0	.	59	Q6P6B1	CH047_HUMAN	C	59	ENSP00000315614:R59C	ENSP00000315614:R59C	R	+	1	0	C8orf47	99170596	0.001000	0.12720	0.586000	0.28679	0.070000	0.16714	1.398000	0.34554	2.687000	0.91594	0.655000	0.94253	CGT	0	NULL		0.498	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf47	protein_coding	OTTHUMT00000380465.1	61	265	0	0.00	0	0	C		0	0		99101420	1	no_errors	ENST00000318528	ensembl	human	known	74_37	missense	41	251	16.33	24.40	8	81	SNP	0.015	T	T	99101420	C	T	99101420	3	4	115	1	0	0	0	0	1	0	0	0	2432	652	23	2	181	2	C8orf47	8	99101420	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09		99101420	47262602	33	2287											
SLC45A4	57210	genome.wustl.edu	37	chr8	142222381	142222381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgctgttcccaccggccCtgccttcgccggccaacggg	3	9	11	18	5	0	0	0	0	0	0	3	0	1	0	6	3	2	2	6	3	1	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr8:142222381C>T	ENST00000024061.3	-	7	2370	c.2063G>A	c.(2062-2064)aGg>aAg	p.R688K	SLC45A4_ENST00000433583.2_Missense_Mutation_p.R681K|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R739K|SLC45A4_ENST00000519067.1_Missense_Mutation_p.R688K	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)			CCCACCGGCCCTGCCTTCGCC	0.642																																							0											0													38	36	37					8																	142222381		2201	4300	6501	SO:0001583	missense	0			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.2063G>A	8.37:g.142222381C>T	ENSP00000024061:p.Arg688Lys		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.R739K	ENST00000024061.3	37	c.2216	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214039	0.39102	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.13538	2.61;2.6;2.6;2.58	4.99	0.468	0.16732	.	1.274720	0.06545	U	0.743925	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.11329	0.004;0.006;0.006	T	0.42666	-0.9438	10	0.27082	T	0.32	-1.829	6.4283	0.21782	0.0:0.287:0.3807:0.3322	.	739;688;688	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	K	688;739;681;688	ENSP00000429059:R688K;ENSP00000428137:R739K;ENSP00000400799:R681K;ENSP00000024061:R688K	ENSP00000024061:R688K	R	-	2	0	SLC45A4	142291563	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	0.001000	0.13038	-0.237000	0.09739	0.655000	0.94253	AGG	0	NULL		0.642	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	protein_coding	OTTHUMT00000378571.3	30	53	0	0.00	0	0	C	XM_050325	0	0		142222381	-1	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	22	40	33.33	40.30	11	27	SNP	0	T	T	142222381	C	T	142222381	3	4	115	1	0	0	0	0	1	0	0	0	14643	681	24	3	341	3	SLC45A4	8	142222381	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	43120961	142222381	4141641	34	2288											
PTPRD	5789	genome.wustl.edu	37	chr9	8528717	8528717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggtggccgtgcgagtacGctcaaccaccttcaactgtg	8	9	11	13	3	2	0	2	0	0	0	2	1	2	0	3	2	4	2	3	2	3	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr9:8528717G>A	ENST00000381196.4	-	12	958	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	PTPRD_ENST00000397606.3_Missense_Mutation_p.R139C|PTPRD_ENST00000463477.1_Missense_Mutation_p.R139C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R139C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R139C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R139C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R139C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R139C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R139C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R139C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R139C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R139C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	139	Ig-like C2-type 2.				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)		GTGCGAGTACGCTCAACCACC	0.458										TSP Lung(15;0.13)																													0											0													103	96	98					9																	8528717		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.415C>T	9.37:g.8528717G>A	ENSP00000370593:p.Arg139Cys		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.R139C	ENST00000381196.4	37	c.415	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196771	0.79015	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.72615	-0.27;-0.27;-0.67;-0.67;-0.27;-0.67;-0.67;-0.67;-0.27;-0.27;-0.67;2.65	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	M	0.67397	2.05	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;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D;D	0.91635	0.995;0.96;0.96;0.96;0.96;0.761;0.932;0.973;0.999;0.96	T	0.81154	-0.1062	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	139;139;139;139;139;139;139;139;139;139	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	139	ENSP00000370593:R139C;ENSP00000348812:R139C;ENSP00000353187:R139C;ENSP00000351293:R139C;ENSP00000347373:R139C;ENSP00000380741:R139C;ENSP00000380735:R139C;ENSP00000440515:R139C;ENSP00000438164:R139C;ENSP00000417093:R139C;ENSP00000380731:R139C;ENSP00000417661:R139C	.	R	-	1	0	PTPRD	8518717	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.016000	0.88706	2.941000	0.99782	0.655000	0.94253	CGT	0	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	protein_coding	OTTHUMT00000055395.3	64	215	0	0.00	0	0	G		0	0		8528717	-1	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	24	98	51.02	42.01	25	71	SNP	1	A	A	8528717	G	A	8528717	3	1	115	1	0	0	0	0	1	0	0	0	12799	1087	38	1	5519	1	PTPRD	9	8528717	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09		8528717	132684714	35	2289											
DAPK1	1612	genome.wustl.edu	37	chr9	90219958	90219958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caagaaaaggaggactaagtCcagccggcggggtgtgagcc	12	4	16	9	2	0	2	0	1	0	1	1	4	1	4	3	5	2	0	3	5	4	1			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr9:90219958C>T	ENST00000408954.3	+	3	487	c.152C>T	c.(151-153)tCc>tTc	p.S51F	DAPK1_ENST00000358077.5_Missense_Mutation_p.S51F|DAPK1_ENST00000491893.1_Missense_Mutation_p.S51F|DAPK1_ENST00000472284.1_Missense_Mutation_p.S51F|DAPK1_ENST00000469640.2_Missense_Mutation_p.S51F	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	51	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						AGGACTAAGTCCAGCCGGCGG	0.552									Chronic Lymphocytic Leukemia, Familial Clustering of																														0											0													47	51	50					9																	90219958		2173	4282	6455	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	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.152C>T	9.37:g.90219958C>T	ENSP00000386135:p.Ser51Phe		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.S51F	ENST00000408954.3	37	c.152	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932867	0.92458	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.04	5.04	0.67666	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	0.000247	T	0.73984	0.3657	L	0.31157	0.91	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.77557	0.942;0.916;0.99	T	0.77183	-0.2681	10	0.87932	D	0	.	17.55	0.87873	0.0:1.0:0.0:0.0	.	51;51;51	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	F	51	ENSP00000350785:S51F;ENSP00000417076:S51F;ENSP00000418885:S51F;ENSP00000386135:S51F;ENSP00000419026:S51F	ENSP00000350785:S51F	S	+	2	0	DAPK1	89409778	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	7.551000	0.82182	2.628000	0.89032	0.511000	0.50034	TCC	0	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		0.552	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	protein_coding	OTTHUMT00000356843.1	39	163	2.5	0.00	1	0	C	NM_004938	0	0		90219958	1	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	28	88	24.32	25.21	9	30	SNP	1	T	T	90219958	C	T	90219958	3	4	115	1	0	0	0	0	1	0	0	0	4235	855	30	3	158	3	DAPK1	9	90219958	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	81691241	90219958	50993473	36	2290											
GAPVD1	26130	genome.wustl.edu	37	chr9	128083733	128083733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctaaacatgcagctttcgGatggaggacaaggagatgtc	12	9	12	8	1	0	1	0	0	0	1	3	5	1	4	1	4	3	2	1	4	3	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr9:128083733G>A	ENST00000495955.1	+	10	1914	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	GAPVD1_ENST00000470056.1_Missense_Mutation_p.D542N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D542N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D542N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D542N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D542N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D542N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D542N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	542					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						GCAGCTTTCGGATGGAGGACA	0.373																																							0											0													132	123	126					9																	128083733		2203	4300	6503	SO:0001583	missense	0				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.1624G>A	9.37:g.128083733G>A	ENSP00000419063:p.Asp542Asn		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.D542N	ENST00000495955.1	37	c.1624		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.548860|4.548860	0.86127|0.86127	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	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|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.102661|.	0.64402|.	D|.	0.000004|.	T|T	0.55369|0.55369	0.1916|0.1916	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;P;P;D|.	0.71674|.	0.996;0.993;0.578;0.718;0.718;0.998|.	D;D;B;B;B;D|.	0.78314|.	0.987;0.971;0.206;0.277;0.206;0.991|.	T|T	0.49908|0.49908	-0.8889|-0.8889	10|5	0.11794|.	T|.	0.64|.	.|.	18.4402|18.4402	0.90664|0.90664	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	542;542;542;542;542;542|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	N|E	542|399	ENSP00000419767:D542N;ENSP00000377665:D542N;ENSP00000377664:D542N;ENSP00000265956:D542N;ENSP00000377645:D542N;ENSP00000419063:D542N;ENSP00000418747:D542N;ENSP00000297933:D542N;ENSP00000309582:D542N|.	ENSP00000265956:D542N|.	D|G	+|+	1|2	0|0	GAPVD1|GAPVD1	127123554|127123554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	7.303000|7.303000	0.78871|0.78871	2.603000|2.603000	0.88011|0.88011	0.563000|0.563000	0.77884|0.77884	GAT|GGA	0	NULL		0.373	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	protein_coding	OTTHUMT00000355644.1	79	295	0	0.00	0	0	G		0	0		128083733	1	no_errors	ENST00000394105	ensembl	human	known	74_37	missense	38	194	17.39	24.81	8	64	SNP	1	A	A	128083733	G	A	128083733	3	1	115	1	0	0	0	0	1	0	0	0	6239	1174	41	3	1650	3	GAPVD1	9	128083733	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	37863775	128083733	13129698	37	2291											
CUBN	8029	genome.wustl.edu	37	chr10	16957098	16957098	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagccgtctgtgacaaacctGaccacagcagtattgctaga	12	8	10	11	1	1	3	0	2	1	1	1	4	1	3	3	0	4	3	3	0	3	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr10:16957098G>A	ENST00000377833.4	-	47	7349	c.7284C>T	c.(7282-7284)gtC>gtT	p.V2428V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2428	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)	TGACAAACCTGACCACAGCAG	0.423																																							0											0													113	97	102					10																	16957098		2203	4300	6503	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7284C>T	10.37:g.16957098G>A			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.V2428	ENST00000377833.4	37	c.7284	CCDS7113.1	10																																																																																			0	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	87	94	0	0.00	0	0	G	NM_001081	0	0		16957098	-1	no_errors	ENST00000377833	ensembl	human	known	74_37	silent	49	47	19.67	34.72	12	25	SNP	1	A	A	16957098	G	A	16957098	2	1	115	1	0	0	0	0	0	0	0	1	4051	1277	45	3		3	CUBN	10	16957098	Silent	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09		16957098	118577649	38	2292											
ZNF25	219749	genome.wustl.edu	37	chr10	38241588	38241588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagggtttctcccctgtgtGcattctctgatgtactgtga	6	16	10	9	0	2	2	0	2	2	0	4	2	2	2	2	1	2	3	2	1	2	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr10:38241588G>A	ENST00000302609.7	-	6	1050	c.838C>T	c.(838-840)Cac>Tac	p.H280Y	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	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)			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)				TCCCCTGTGTGCATTCTCTGA	0.448																																							0											0													87	82	84					10																	38241588		2203	4300	6503	SO:0001583	missense	0			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.838C>T	10.37:g.38241588G>A	ENSP00000302222:p.His280Tyr		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	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.H280Y	ENST00000302609.7	37	c.838	CCDS7195.1	10	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898948	0.52227	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.67523	-0.27	4.73	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000399	T	0.79713	0.4493	H	0.95574	3.69	0.33142	D	0.544478	P	0.49862	0.929	P	0.47603	0.551	D	0.89140	0.3516	10	0.87932	D	0	-25.3695	13.1688	0.59585	0.0:0.1616:0.8384:0.0	.	280	P17030	ZNF25_HUMAN	Y	280;244	ENSP00000302222:H280Y	ENSP00000302222:H280Y	H	-	1	0	ZNF25	38281594	1.000000	0.71417	0.980000	0.43619	0.658000	0.38924	7.314000	0.78988	1.356000	0.45884	0.449000	0.29647	CAC	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	protein_coding	OTTHUMT00000051214.1	53	124	0	0.00	0	0	G	NM_145011, NM_006966	0	0		38241588	-1	no_errors	ENST00000302609	ensembl	human	known	74_37	missense	29	51	23.68	30.14	9	22	SNP	1	A	A	38241588	G	A	38241588	3	1	115	1	0	0	0	0	1	0	0	0	17791	1319	46	3	536	3	ZNF25	10	38241588	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	21284490	38241588	97293159	39	2293											
DCLRE1A	9937	genome.wustl.edu	37	chr10	115595039	115595039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggacaaagcgcttcatttCtaggtagctgctgtgttcac	8	13	10	10	1	3	0	2	0	1	0	3	1	3	1	0	2	3	5	0	2	3	5			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr10:115595039C>T	ENST00000361384.2	-	9	3912	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E999K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	999					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)		CGCTTCATTTCTAGGTAGCTG	0.363								Other identified genes with known or suspected DNA repair function																															0											0													94	89	90					10																	115595039		2203	4300	6503	SO:0001583	missense	0				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.2995G>A	10.37:g.115595039C>T	ENSP00000355185:p.Glu999Lys		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.E999K	ENST00000361384.2	37	c.2995	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.576804	0.96565	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.69926	-0.44;-0.44	5.32	5.32	0.75619	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	D	0.87462	0.6183	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90934	0.4792	10	0.87932	D	0	-27.9197	17.5439	0.87856	0.0:1.0:0.0:0.0	.	999	Q6PJP8	DCR1A_HUMAN	K	999	ENSP00000355185:E999K;ENSP00000358311:E999K	ENSP00000355185:E999K	E	-	1	0	DCLRE1A	115585029	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.389000	0.79806	2.648000	0.89879	0.655000	0.94253	GAA	0	pfam_DRMBL		0.363	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	protein_coding	OTTHUMT00000050444.1	103	319	0	0.00	0	0	C	NM_014881	0	0		115595039	-1	no_errors	ENST00000361384	ensembl	human	known	74_37	missense	78	192	29.09	23.72	32	60	SNP	1	T	T	115595039	C	T	115595039	3	4	115	1	0	0	0	0	1	0	0	0	4294	922	32	3	131	3	DCLRE1A	10	115595039	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	77353451	115595039	19939708	40	2294											
PLCB3	5331	genome.wustl.edu	37	chr11	64031214	64031214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccaaccgctgtgcctgcCggccctgctcatctacaccg	7	7	8	19	3	2	0	1	0	1	0	2	0	2	0	6	1	6	2	6	1	3	1	rs142407686		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr11:64031214C>T	ENST00000540288.1	+	21	2610	c.2507C>T	c.(2506-2508)cCg>cTg	p.P836L	PLCB3_ENST00000279230.6_Missense_Mutation_p.P836L|PLCB3_ENST00000325234.5_Missense_Mutation_p.P769L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	836					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						CTGTGCCTGCCGGCCCTGCTC	0.667																																							0											0								C	LEU/PRO,LEU/PRO	1,4401	2.1+/-5.4	0,1,2200	109	104	106		2507,2306	5.2	1	11	dbSNP_134	106	0,8594		0,0,4297	no	missense,missense	PLCB3	NM_000932.2,NM_001184883.1	98,98	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	836/1235,769/1168	64031214	1,12995	2201	4297	6498	SO:0001583	missense	0			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.2507C>T	11.37:g.64031214C>T	ENSP00000443631:p.Pro836Leu		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.P836L	ENST00000540288.1	37	c.2507	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862356	0.91511	2.27E-4	0.0	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.12465	2.68;2.68;2.68	5.25	5.25	0.73442	C2 calcium/lipid-binding domain, CaLB (1);	0.053288	0.85682	D	0.000000	T	0.41442	0.1159	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.956;0.977	T	0.39375	-0.9617	10	0.87932	D	0	.	17.6185	0.88074	0.0:1.0:0.0:0.0	.	769;836	G5E960;Q01970	.;PLCB3_HUMAN	L	836;836;769	ENSP00000279230:P836L;ENSP00000443631:P836L;ENSP00000324660:P769L	ENSP00000279230:P836L	P	+	2	0	PLCB3	63787790	1.000000	0.71417	0.975000	0.42487	0.638000	0.38207	7.645000	0.83430	2.462000	0.83206	0.561000	0.74099	CCG	0	pirsf_PLC-beta,superfamily_C2_dom		0.667	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	protein_coding	OTTHUMT00000396405.1	50	115	1.96	0.00	1	0	C		rs142407686	C->T		64031214	1	no_errors	ENST00000279230	ensembl	human	known	74_37	missense	21	73	36.36	25.51	12	25	SNP	1	T	T	64031214	C	T	64031214	3	4	115	1	0	0	0	0	1	0	0	0	12029	652	23	2	2589	2	PLCB3	11	64031214	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09		64031214	70975302	41	2295											
CCDC87	55231	genome.wustl.edu	37	chr11	66358915	66358915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggctgaggacaggaaggtCgaccagtctttatctgctgc	10	9	13	9	1	2	1	0	1	2	0	3	4	2	3	1	4	2	2	1	4	3	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr11:66358915C>T	ENST00000333861.3	-	1	1639	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	524					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						ACAGGAAGGTCGACCAGTCTT	0.483																																							0											0													89	89	89					11																	66358915		2200	4295	6495	SO:0001819	synonymous_variant	0			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.1572G>A	11.37:g.66358915C>T			Q8NE76	Silent	SNP	pfam_MAP65_Ase1_PRC1	p.S524	ENST00000333861.3	37	c.1572	CCDS8145.1	11																																																																																			0	NULL		0.483	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	protein_coding	OTTHUMT00000393825.1	52	240	0	0.00	0	0	C	NM_018219	0	0		66358915	-1	no_errors	ENST00000333861	ensembl	human	known	74_37	silent	46	167	21.67	23.39	13	51	SNP	0	T	T	66358915	C	T	66358915	2	4	115	1	0	0	0	0	0	0	0	1	2862	871	31	2		2	CCDC87	11	66358915	Silent	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	2327701	66358915	68647601	42	2296											
RNF169	254225	genome.wustl.edu	37	chr11	74547372	74547372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaatcaccacagttaattCagtgctaccccaaaacagtg	16	8	6	11	0	2	0	2	0	0	0	2	1	2	0	3	0	3	2	3	0	6	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr11:74547372C>T	ENST00000299563.4	+	6	1737	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	575					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						ACAGTTAATTCAGTGCTACCC	0.413																																							0											0													57	57	57					11																	74547372		1871	4093	5964	SO:0001583	missense	0			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.1724C>T	11.37:g.74547372C>T	ENSP00000299563:p.Ser575Leu		Q6N015	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S575L	ENST00000299563.4	37	c.1724	CCDS41691.1	11	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739530	0.49045	.	.	ENSG00000166439	ENST00000299563	T	0.50277	0.75	5.79	5.79	0.91817	.	0.451574	0.21545	N	0.072825	T	0.49695	0.1572	M	0.67953	2.075	0.80722	D	1	B	0.31581	0.329	B	0.28849	0.095	T	0.49688	-0.8913	10	0.51188	T	0.08	-0.0048	17.5299	0.87811	0.0:1.0:0.0:0.0	.	575	Q8NCN4	RN169_HUMAN	L	575	ENSP00000299563:S575L	ENSP00000299563:S575L	S	+	2	0	RNF169	74225020	0.051000	0.20477	0.349000	0.25694	0.935000	0.57460	3.306000	0.51881	2.740000	0.93945	0.563000	0.77884	TCA	0	NULL		0.413	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	protein_coding	OTTHUMT00000384741.1	79	289	0	0.00	0	0	C	XM_495886	0	0		74547372	1	no_errors	ENST00000299563	ensembl	human	known	74_37	missense	39	172	26.42	27.12	14	64	SNP	0.186	T	T	74547372	C	T	74547372	3	4	115	1	0	0	0	0	1	0	0	0	13460	838	29	3	1746	3	RNF169	11	74547372	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	8188457	74547372	60459144	43	2297											
MMP13	4322	genome.wustl.edu	37	chr11	102818738	102818738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatttttttgggataacCttccagaatgtcataaccat	13	15	6	7	0	1	2	1	0	0	2	2	3	2	3	3	1	2	0	3	1	4	7			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr11:102818738C>A	ENST00000260302.3	-	8	1121	c.1093G>T	c.(1093-1095)Ggt>Tgt	p.G365C	MMP13_ENST00000340273.4_Missense_Mutation_p.G365C	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	365	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TTGGGATAACCTTCCAGAATG	0.368																																							0											0													80	73	75					11																	102818738		2202	4299	6501	SO:0001583	missense	0			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1093G>T	11.37:g.102818738C>A	ENSP00000260302:p.Gly365Cys		A8K846|B2RCZ3|Q6NWN6	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.G365C	ENST00000260302.3	37	c.1093	CCDS8324.1	11	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956250	0.92726	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.23348	1.91;3.71	5.82	5.82	0.92795	Hemopexin/matrixin (2);	0.138299	0.64402	D	0.000003	T	0.67277	0.2876	H	0.95982	3.75	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	T	0.77624	-0.2518	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	365	P45452	MMP13_HUMAN	C	365	ENSP00000260302:G365C;ENSP00000339672:G365C	ENSP00000260302:G365C	G	-	1	0	MMP13	102323948	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	7.764000	0.85297	2.752000	0.94435	0.655000	0.94253	GGT	0	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans		0.368	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MMP13	protein_coding	OTTHUMT00000386648.1	93	271	0	0.00	0	0	C	NM_002427	0	0		102818738	-1	no_errors	ENST00000340273	ensembl	human	novel	74_37	missense	30	168	30.23	30.00	13	72	SNP	1	A	A	102818738	C	A	102818738	3	1	115	1	0	0	0	0	1	0	0	0	9652	681	24	5	334	5	MMP13	11	102818738	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	28271366	102818738	32187778	44	2298											
SLC2A14	144195	genome.wustl.edu	37	chr12	7982501	7982501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagaggccaataaccaagCggcccaggatcagcatttca	15	5	10	11	1	2	2	2	0	0	2	2	3	2	3	3	3	3	1	3	3	4	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr12:7982501C>T	ENST00000543909.1	-	10	1202	c.443G>A	c.(442-444)cGc>cAc	p.R148H	SLC2A14_ENST00000542546.1_Missense_Mutation_p.R39H|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R148H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R125H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R163H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R39H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R125H			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	148					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AATAACCAAGCGGCCCAGGAT	0.527																																							0											0													91	85	87					12																	7982501		2203	4300	6503	SO:0001583	missense	0			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.443G>A	12.37:g.7982501C>T	ENSP00000440480:p.Arg148His		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.R148H	ENST00000543909.1	37	c.443	CCDS8585.1	12	.	.	.	.	.	.	.	.	.	.	c	16.65	3.182512	0.57800	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344	D;D;D;D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	3.41	3.41	0.39046	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	H	0.99726	4.73	0.58432	D	0.999999	D;D;D;D	0.67145	0.996;0.993;0.991;0.996	D;P;P;D	0.69142	0.924;0.891;0.908;0.962	D	0.97660	1.0160	10	0.87932	D	0	.	12.3094	0.54920	0.0:1.0:0.0:0.0	.	163;39;125;148	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	H	125;148;125;148;39;39;163;125;125;125	ENSP00000340450:R125H;ENSP00000440480:R148H;ENSP00000407287:R125H;ENSP00000379834:R148H;ENSP00000440492:R39H;ENSP00000443903:R39H;ENSP00000445929:R163H;ENSP00000440043:R125H;ENSP00000438312:R125H;ENSP00000443217:R125H	ENSP00000340450:R125H	R	-	2	0	SLC2A14	7873768	1.000000	0.71417	0.943000	0.38184	0.285000	0.27093	6.848000	0.75409	1.430000	0.47334	0.460000	0.39030	CGC	0	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.527	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	SLC2A14	protein_coding	OTTHUMT00000399836.2	40	106	0	0.93	0	1	C	NM_153449	0	0		7982501	-1	no_errors	ENST00000396589	ensembl	human	known	74_37	missense	34	44	27.66	13.73	13	7	SNP	0.996	T	T	7982501	C	T	7982501	3	4	115	1	0	0	0	0	1	0	0	0	14543	768	27	1	1147	1	SLC2A14	12	7982501	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09		7982501	125869394	45	2299											
C12orf10	60314	genome.wustl.edu	37	chr12	53700782	53700782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagccatggcggggtcttcGggacgaggccctggaccagg	7	5	18	11	3	1	1	0	0	1	1	2	4	1	3	3	7	1	0	3	7	0	1	rs142952424		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr12:53700782G>A	ENST00000267103.5	+	7	1032	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	AAAS_ENST00000549983.1_5'Flank|C12orf10_ENST00000548632.1_Missense_Mutation_p.R252Q|C12orf10_ENST00000549488.1_Missense_Mutation_p.R164Q	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	327					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R327L(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						CGGGGTCTTCGGGACGAGGCC	0.627																																							0											1	Substitution - Missense(1)	lung(1)											88	93	91					12																	53700782		2203	4300	6503	SO:0001583	missense	0			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.980G>A	12.37:g.53700782G>A	ENSP00000267103:p.Arg327Gln			Missense_Mutation	SNP	pfam_Met-dep_prot_hydro	p.R164Q	ENST00000267103.5	37	c.491	CCDS31810.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.237784	0.95240	.	.	ENSG00000139637	ENST00000267103;ENST00000548845;ENST00000545214;ENST00000548632;ENST00000549488	T;T;T	0.47869	0.83;0.83;0.83	5.32	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.76071	0.987;0.934	T	0.71013	-0.4715	10	0.87932	D	0	-12.7214	12.1986	0.54311	0.0823:0.0:0.9177:0.0	.	276;327	F5H641;Q9HB07	.;MYG1_HUMAN	Q	327;212;276;252;164	ENSP00000267103:R327Q;ENSP00000450270:R252Q;ENSP00000448433:R164Q	ENSP00000267103:R327Q	R	+	2	0	C12orf10	51987049	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.399000	0.79935	1.630000	0.50440	0.655000	0.94253	CGG	0	pfam_Met-dep_prot_hydro		0.627	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C12orf10	protein_coding	OTTHUMT00000406906.1	24	92	0	1.08	0	1	G	NM_021640	0	0		53700782	1	no_errors	ENST00000549488	ensembl	human	putative	74_37	missense	16	85	46.67	36.30	14	49	SNP	1	A	A	53700782	G	A	53700782	3	1	115	1	0	0	0	0	1	0	0	0	1674	1116	39	2	1006	2	C12orf10	12	53700782	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	45718281	53700782	80151113	46	2300											
USP30	84749	genome.wustl.edu	37	chr12	109509448	109509448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attattccatgtcattacctCgtcattggaagatgagcgag	11	13	9	8	2	2	2	2	1	0	1	4	4	3	3	2	1	2	0	2	1	3	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr12:109509448C>T	ENST00000257548.5	+	5	605	c.512C>T	c.(511-513)tCg>tTg	p.S171L	USP30_ENST00000392784.2_Missense_Mutation_p.S140L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	171	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						GTCATTACCTCGTCATTGGAA	0.468																																							0											0													130	109	116					12																	109509448		2203	4300	6503	SO:0001583	missense	0			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.512C>T	12.37:g.109509448C>T	ENSP00000257548:p.Ser171Leu		Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S171L	ENST00000257548.5	37	c.512	CCDS9123.2	12	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990353	0.93106	.	.	ENSG00000135093	ENST00000392784;ENST00000257548;ENST00000536723;ENST00000536393	T;T;T;T	0.75260	-0.92;-0.92;-0.92;4.03	5.2	5.2	0.72013	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.058310	0.64402	D	0.000001	D	0.86049	0.5840	M	0.79805	2.47	0.80722	D	1	D	0.65815	0.995	D	0.63597	0.916	D	0.87844	0.2653	10	0.66056	D	0.02	-10.8375	17.7227	0.88356	0.0:1.0:0.0:0.0	.	171	Q70CQ3	UBP30_HUMAN	L	140;171;140;110	ENSP00000376535:S140L;ENSP00000257548:S171L;ENSP00000443678:S140L;ENSP00000438829:S110L	ENSP00000257548:S171L	S	+	2	0	USP30	107993831	1.000000	0.71417	0.690000	0.30148	0.983000	0.72400	6.250000	0.72435	2.421000	0.82119	0.462000	0.41574	TCG	0	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.468	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP30	protein_coding	OTTHUMT00000257733.2	47	209	0	0.00	0	0	C	NM_032663	0	0		109509448	1	no_errors	ENST00000257548	ensembl	human	known	74_37	missense	51	197	22.73	16.81	15	40	SNP	0.997	T	T	109509448	C	T	109509448	3	4	115	1	0	0	0	0	1	0	0	0	17058	893	31	2	530	2	USP30	12	109509448	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	55808666	109509448	24342447	47	2301											
C12orf51	283450	genome.wustl.edu	37	chr12	112704761	112704761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattgatttcagtttcacCtgggtacaagatatttaaac	12	16	7	6	0	2	2	2	1	0	1	2	2	2	2	1	1	2	3	1	1	6	8			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr12:112704761C>T	ENST00000430131.2	-	13	2196	c.1051G>A	c.(1051-1053)Ggt>Agt	p.G351S	HECTD4_ENST00000550722.1_Missense_Mutation_p.G639S|RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000377560.5_Missense_Mutation_p.G601S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	351					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)										TCAGTTTCACCTGGGTACAAG	0.299																																							0											0													39	39	39					12																	112704761		2172	4234	6406	SO:0001583	missense	0			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.1051G>A	12.37:g.112704761C>T	ENSP00000404379:p.Gly351Ser		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.G601S	ENST00000430131.2	37	c.1801		12	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482713	0.63962	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000550724	T;T;T	0.52295	0.67;0.68;0.67	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	N	0.08118	0	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.991;0.996	T	0.63157	-0.6700	10	0.72032	D	0.01	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	351;351;351	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	S	601;351;639;29	ENSP00000366783:G601S;ENSP00000404379:G351S;ENSP00000449784:G639S	ENSP00000366783:G601S	G	-	1	0	C12orf51	111189144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.070000	0.64376	2.854000	0.98071	0.655000	0.94253	GGT	0	NULL		0.299	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		112	298	0	0.00	0	0	C	NM_173813	0	0		112704761	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	87	297	25.42	21.43	30	81	SNP	1	T	T	112704761	C	T	112704761	3	4	115	1	0	0	0	0	1	0	0	0	1696	681	24	3	11191	3	C12orf51	12	112704761	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	3195313	112704761	21147134	48	2302											
CLIP1	6249	genome.wustl.edu	37	chr12	122763584	122763584	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtactctacctcatttctCagtttctccagctcggcatc	6	15	6	14	1	4	0	2	0	3	0	8	0	4	0	2	2	3	4	2	2	2	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr12:122763584C>G	ENST00000540338.1	-	21	3797	c.3756G>C	c.(3754-3756)ctG>ctC	p.L1252L	CLIP1_ENST00000540539.1_5'Flank|CLIP1_ENST00000545889.1_Silent_p.L827L|CLIP1_ENST00000361654.4_Silent_p.L1130L|CLIP1_ENST00000302528.7_Silent_p.L1241L|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000537178.1_Silent_p.L1206L|CLIP1_ENST00000358808.2_Silent_p.L1241L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1252					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CCTCATTTCTCAGTTTCTCCA	0.468																																							0											0													167	155	159					12																	122763584		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3756G>C	12.37:g.122763584C>G			A0AVD3|Q17RS4|Q29RG0	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.L1252	ENST00000540338.1	37	c.3756	CCDS58285.1	12																																																																																			0	NULL		0.468	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	protein_coding	OTTHUMT00000401625.1	61	220	0	0.00	0	0	C	NM_002956	0	0		122763584	-1	no_errors	ENST00000540338	ensembl	human	known	74_37	silent	49	251	18.33	17.97	11	55	SNP	1	G	G	122763584	C	G	122763584	2	3	115	1	0	0	0	0	0	0	0	1	3532	813	29	5		5	CLIP1	12	122763584	Silent	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	10058823	122763584	11088311	49	2303											
STARD13	90627	genome.wustl.edu	37	chr13	33685017	33685017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcctccacatacgagttacGagactgggccaccaactcgt	11	7	9	14	3	0	1	0	0	0	1	2	3	1	1	4	1	4	1	4	1	3	2	rs142383363		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr13:33685017G>C	ENST00000336934.5	-	11	2751	c.2635C>G	c.(2635-2637)Cgt>Ggt	p.R879G	STARD13_ENST00000255486.4_Missense_Mutation_p.R871G|STARD13_ENST00000399365.3_Missense_Mutation_p.R761G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	879					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)		TACGAGTTACGAGACTGGGCC	0.532																																							0											0													114	80	92					13																	33685017		2203	4300	6503	SO:0001583	missense	0			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.2635C>G	13.37:g.33685017G>C	ENSP00000338785:p.Arg879Gly		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.R879G	ENST00000336934.5	37	c.2635	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602403	0.28534	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.07800	3.16;3.17;3.17	5.93	4.13	0.48395	.	0.384646	0.32015	N	0.006713	T	0.22475	0.0542	M	0.84326	2.69	0.80722	D	1	P;B;B	0.37985	0.613;0.106;0.029	P;B;B	0.48304	0.573;0.201;0.075	T	0.00621	-1.1640	10	0.46703	T	0.11	.	12.9815	0.58567	0.0:0.1243:0.7463:0.1294	.	844;879;871	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	G	761;871;879	ENSP00000382300:R761G;ENSP00000255486:R871G;ENSP00000338785:R879G	ENSP00000255486:R871G	R	-	1	0	STARD13	32583017	0.938000	0.31826	0.006000	0.13384	0.265000	0.26407	5.141000	0.64814	0.771000	0.33359	0.655000	0.94253	CGT	0	NULL		0.532	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	protein_coding	OTTHUMT00000276118.2	65	163	0	0.00	0	0	G	NM_001243466	0	0		33685017	-1	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	45	92	11.76	32.61	6	45	SNP	0.362	C	C	33685017	G	C	33685017	3	2	115	1	0	0	0	0	1	0	0	0	15255	1058	37	5	722	5	STARD13	13	33685017	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09		33685017	81484861	50	2304											
NAA16	79612	genome.wustl.edu	37	chr13	41885703	41885703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcccaaggagagcaacctCttcaaacgcatcttggtgag	11	7	10	13	2	3	2	1	1	2	1	3	3	3	2	3	2	3	2	3	2	3	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr13:41885703C>T	ENST00000379406.3	+	1	363	c.39C>T	c.(37-39)ctC>ctT	p.L13L	NAA16_ENST00000379367.3_Silent_p.L13L|NAA16_ENST00000403412.3_Silent_p.L13L	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	13					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AGAGCAACCTCTTCAAACGCA	0.731																																							0											0													18	20	20					13																	41885703		2199	4293	6492	SO:0001819	synonymous_variant	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.39C>T	13.37:g.41885703C>T			B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L13	ENST00000379406.3	37	c.39	CCDS9379.1	13																																																																																			0	pirsf_NatA_aux_su		0.731	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	protein_coding	OTTHUMT00000044672.2	29	57	0	0.00	0	0	C	NM_018527	0	0		41885703	1	no_errors	ENST00000379406	ensembl	human	known	74_37	silent	10	60	23.08	22.08	3	17	SNP	1	T	T	41885703	C	T	41885703	2	4	115	1	0	0	0	0	0	0	0	1	10119	900	32	3		3	NAA16	13	41885703	Silent	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	8200686	41885703	73284175	51	2305											
GPR180	160897	genome.wustl.edu	37	chr13	95271505	95271505	+	Frame_Shift_Del	DEL	C	C	-																															ttaagaaaggcggacccatgCacatgattttaaaggttctg																										TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr13:95271505delC	ENST00000376958.4	+	4	632	c.607delC	c.(607-609)cacfs	p.H203fs		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	203					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CGGACCCATGCACATGATTTT	0.393																																							0											0													177	170	173					13																	95271505		2203	4300	6503	SO:0001589	frameshift_variant	0			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"intimal thickness related receptor"	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.607delC	13.37:g.95271505delC	ENSP00000366157:p.His203fs		A8K1D5	Frame_Shift_Del	DEL	pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk	p.H203fs	ENST00000376958.4	37	c.607	CCDS9472.1	13																																																																																			0	pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk		0.393	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR180	protein_coding	OTTHUMT00000045465.3	62	274	0	0.00	0	0	C	NM_180989	0	0		95271505	1	no_errors	ENST00000376958	ensembl	human	known	74_37	frame_shift_del	23	150	36.11	24.62	13	49	DEL	1	0	-	95271505	C	-	95271505	7	5	115	1	0	1	0	1	0	0	0	0	6676	710	25	0	621	0	GPR180	13	95271505	Frame_Shift_Del	DEL	C	TCGA-ZC-AAA7-01A-11D-A428-09	53385802	95271505	19898373	52	2306											
COL4A1	1282	genome.wustl.edu	37	chr13	110830441	110830441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaatcccaggagccccctGctgtccaggaaggccaggga	10	4	14	13	0	0	0	0	0	0	0	2	4	2	4	5	5	2	1	5	5	2	0			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr13:110830441G>T	ENST00000375820.4	-	32	2717	c.2596C>A	c.(2596-2598)Cag>Aag	p.Q866K		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	866	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)			GGAGCCCCCTGCTGTCCAGGA	0.542																																							0											0													66	75	72					13																	110830441		2203	4300	6503	SO:0001583	missense	0			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.2596C>A	13.37:g.110830441G>T	ENSP00000364979:p.Gln866Lys		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.Q866K	ENST00000375820.4	37	c.2596	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881702	0.51908	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.83591	-1.74	5.52	5.52	0.82312	.	0.202192	0.42964	D	0.000638	T	0.75072	0.3800	N	0.01289	-0.905	0.80722	D	1	D	0.63046	0.992	D	0.65684	0.937	T	0.74064	-0.3785	10	0.07175	T	0.84	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	866	P02462	CO4A1_HUMAN	K	509;866;515	ENSP00000364979:Q866K	ENSP00000364973:Q509K	Q	-	1	0	COL4A1	109628442	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.106000	0.71511	2.595000	0.87683	0.655000	0.94253	CAG	0	pfam_Collagen		0.542	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	protein_coding	OTTHUMT00000045759.3	43	228	0	0.44	0	1	G		0	0		110830441	-1	no_errors	ENST00000375820	ensembl	human	known	74_37	missense	38	164	26.92	21.53	14	45	SNP	1	T	T	110830441	G	T	110830441	3	4	115	1	0	0	0	0	1	0	0	0	3689	1328	46	5	2497	5	COL4A1	13	110830441	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	15558936	110830441	4339437	53	2307											
MYH7	4625	genome.wustl.edu	37	chr14	23902825	23902825	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcctgtttgtcatcaggCacgaagacatccttcttgag	10	12	8	11	1	3	2	2	1	1	1	5	3	5	2	2	1	1	2	2	1	2	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr14:23902825C>A	ENST00000355349.3	-	3	279	c.117G>T	c.(115-117)gtG>gtT	p.V39V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	39			V -> M (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)		TGTCATCAGGCACGAAGACAT	0.572																																							0											0													125	105	112					14																	23902825		2203	4300	6503	SO:0001819	synonymous_variant	0			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.117G>T	14.37:g.23902825C>A			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.V39	ENST00000355349.3	37	c.117	CCDS9601.1	14																																																																																			0	pfam_Myosin_N,superfamily_P-loop_NTPase		0.572	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	36	161	0	0.00	0	0	C	NM_000257	0	0		23902825	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	silent	13	121	23.53	19.33	4	29	SNP	1	A	A	23902825	C	A	23902825	2	1	115	1	0	0	0	0	0	0	0	1	10039	697	25	5		5	MYH7	14	23902825	Silent	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09		23902825	83446715	54	2308											
POLE2	5427	genome.wustl.edu	37	chr14	50120764	50120764	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgtctgaattcattagtGatgctttcagcaagtggtgg	8	16	11	6	0	3	2	2	2	1	0	3	2	3	2	0	2	2	2	0	2	3	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr14:50120764G>A	ENST00000216367.5	-	15	1254	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	POLE2_ENST00000554396.1_Silent_p.I385I|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000539565.2_Silent_p.I359I	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	385					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)	ATTCATTAGTGATGCTTTCAG	0.284																																							0											0													70	71	71					14																	50120764		2203	4300	6503	SO:0001819	synonymous_variant	0			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1155C>T	14.37:g.50120764G>A			A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu	p.I385	ENST00000216367.5	37	c.1155	CCDS32073.1	14																																																																																			0	pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_e_bsu		0.284	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	POLE2	protein_coding	OTTHUMT00000410512.1	173	322	0	0.00	0	0	G	NM_002692	0	0		50120764	-1	no_errors	ENST00000216367	ensembl	human	known	74_37	silent	123	198	20.13	22.57	31	58	SNP	1	A	A	50120764	G	A	50120764	2	1	115	1	0	0	0	0	0	0	0	1	12197	1280	45	3		3	POLE2	14	50120764	Silent	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	26217939	50120764	57228776	55	2309											
SYNE2	23224	genome.wustl.edu	37	chr14	64679552	64679552	+	Frame_Shift_Del	DEL	A	A	-																															ttccaacaggaaattacattAaataccaacaagattgatca																										TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr14:64679552delA	ENST00000344113.4	+	105	19097	c.18885delA	c.(18883-18885)ttafs	p.L6295fs	SYNE2_ENST00000358025.3_Frame_Shift_Del_p.L6295fs|SYNE2_ENST00000554805.1_Frame_Shift_Del_p.L78fs|SYNE2_ENST00000394768.2_Frame_Shift_Del_p.L2680fs|SYNE2_ENST00000357395.3_Frame_Shift_Del_p.L2680fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.L6254fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000555022.1_Frame_Shift_Del_p.L173fs|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000555002.1_Frame_Shift_Del_p.L2929fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6295					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)		AAATTACATTAAATACCAACA	0.468																																							0											0													74	74	74					14																	64679552		2203	4300	6503	SO:0001589	frameshift_variant	0			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.18885delA	14.37:g.64679552delA	ENSP00000341781:p.Leu6295fs		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.N6296fs	ENST00000344113.4	37	c.18885	CCDS41963.1	14																																																																																			0	smart_Spectrin/alpha-actinin		0.468	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	62	231	0	0.00	0	0	A	NM_182914	0	0		64679552	1	no_errors	ENST00000358025	ensembl	human	known	74_37	frame_shift_del	26	163	29.73	23.83	11	51	DEL	0.999	0	-	64679552	A	-	64679552	7	5	115	1	0	1	0	1	0	0	0	0	15443	359	13	0	19299	0	SYNE2	14	64679552	Frame_Shift_Del	DEL	A	TCGA-ZC-AAA7-01A-11D-A428-09	14558788	64679552	42669988	56	2310											
KLC1	3831	genome.wustl.edu	37	chr14	104135927	104135927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaactttgggcaaagatCatcctgcggtttgtatatcc	12	12	9	8	1	1	2	1	0	0	2	3	2	3	2	2	2	2	3	2	2	5	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr14:104135927C>T	ENST00000348520.6	+	6	1196	c.877C>T	c.(877-879)Cat>Tat	p.H293Y	KLC1_ENST00000452929.2_Missense_Mutation_p.H293Y|KLC1_ENST00000557575.1_Missense_Mutation_p.H293Y|KLC1_ENST00000389744.4_Missense_Mutation_p.H293Y|KLC1_ENST00000554280.1_Missense_Mutation_p.H293Y|KLC1_ENST00000334553.6_Missense_Mutation_p.H293Y|KLC1_ENST00000553286.1_Missense_Mutation_p.H293Y|KLC1_ENST00000380038.3_Missense_Mutation_p.H293Y|KLC1_ENST00000347839.6_Missense_Mutation_p.H293Y|KLC1_ENST00000555836.1_Missense_Mutation_p.H293Y|KLC1_ENST00000445352.4_Missense_Mutation_p.H291Y|KLC1_ENST00000557450.1_Missense_Mutation_p.H293Y|KLC1_ENST00000246489.7_Missense_Mutation_p.H293Y|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.H465Y	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	293					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)				GGGCAAAGATCATCCTGCGGT	0.338																																							0											0													132	126	128					14																	104135927		2203	4300	6503	SO:0001583	missense	0			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.877C>T	14.37:g.104135927C>T	ENSP00000341154:p.His293Tyr		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.H293Y	ENST00000348520.6	37	c.877	CCDS41996.1	14	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425376	0.83667	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	M	0.92507	3.315	0.80722	D	1	D;D;D;P;D	0.76494	0.964;0.998;0.999;0.879;0.992	P;D;D;P;P	0.71870	0.596;0.949;0.975;0.752;0.872	D	0.98600	1.0658	10	0.87932	D	0	-19.6886	19.6493	0.95794	0.0:1.0:0.0:0.0	.	293;293;465;293;291	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	Y	293;293;293;293;293;293;293;293;293;293;293;293;293;291;465	ENSP00000341154:H293Y;ENSP00000369377:H293Y;ENSP00000374394:H293Y;ENSP00000450617:H293Y;ENSP00000452487:H293Y;ENSP00000334618:H293Y;ENSP00000452481:H293Y;ENSP00000334523:H293Y;ENSP00000246489:H293Y;ENSP00000450648:H293Y;ENSP00000451242:H293Y;ENSP00000414982:H293Y;ENSP00000412693:H291Y;ENSP00000439065:H465Y	ENSP00000246489:H293Y	H	+	1	0	KLC1;RP11-73M18.2	103205680	1.000000	0.71417	0.579000	0.28588	0.801000	0.45260	7.771000	0.85420	2.711000	0.92665	0.591000	0.81541	CAT	0	pfscan_TPR-contain_dom,prints_Kinesin_light		0.338	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	protein_coding	OTTHUMT00000402947.2	65	254	0	0.00	0	0	C	NM_005552	0	0		104135927	1	no_errors	ENST00000334553	ensembl	human	known	74_37	missense	54	190	12.9	22.13	8	54	SNP	1	T	T	104135927	C	T	104135927	3	4	115	1	0	0	0	0	1	0	0	0	8333	826	29	3	895	3	KLC1	14	104135927	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	39456375	104135927	3213613	57	2311											
AHNAK2	113146	genome.wustl.edu	37	chr14	105413036	105413036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagcttggggcccttgaCgtctatctgggggcccttga	4	11	14	12	1	2	2	0	2	2	0	3	2	3	2	3	4	1	1	3	4	1	4	rs77077255		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr14:105413036C>T	ENST00000333244.5	-	7	8871	c.8752G>A	c.(8752-8754)Gtc>Atc	p.V2918I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2918						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)			GGGCCCTTGACGTCTATCTGG	0.657																																							0											0													137	153	148					14																	105413036		1869	4089	5958	SO:0001583	missense	0			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.8752G>A	14.37:g.105413036C>T	ENSP00000353114:p.Val2918Ile		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V2918I	ENST00000333244.5	37	c.8752	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.449921	0.00175	.	.	ENSG00000185567	ENST00000333244	T	0.00832	5.64	4.12	-8.14	0.01069	.	.	.	.	.	T	0.00524	0.0017	N	0.12831	0.26	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47623	-0.9103	9	0.05351	T	0.99	.	10.9871	0.47528	0.0:0.5193:0.3216:0.1591	.	2918	Q8IVF2	AHNK2_HUMAN	I	2918	ENSP00000353114:V2918I	ENSP00000353114:V2918I	V	-	1	0	AHNAK2	104484081	0.014000	0.17966	0.003000	0.11579	0.001000	0.01503	-0.865000	0.04250	-2.517000	0.00500	-3.684000	0.00024	GTC	0	NULL		0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	63	32	0	0.00	0	0	C	NM_138420	rs77077255	C->T		105413036	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	40	23	23.08	42.50	12	17	SNP	0.017	T	T	105413036	C	T	105413036	3	4	115	1	0	0	0	0	1	0	0	0	415	536	19	1	8639	1	AHNAK2	14	105413036	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	1277109	105413036	1936504	58	2312											
SEC14L5	9717	genome.wustl.edu	37	chr16	5057391	5057391	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctggtccccaagtccctCtacatgacagaagaggagca	11	6	12	12	0	1	3	0	1	1	2	3	4	3	4	3	3	2	2	3	3	3	1			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:5057391C>G	ENST00000251170.7	+	13	1656	c.1476C>G	c.(1474-1476)ctC>ctG	p.L492L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	492						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						CCAAGTCCCTCTACATGACAG	0.627																																							0											0													45	47	46					16																	5057391		2065	4197	6262	SO:0001819	synonymous_variant	0			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.1476C>G	16.37:g.5057391C>G				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.L492	ENST00000251170.7	37	c.1476	CCDS45403.1	16																																																																																			0	superfamily_CRAL-TRIO_dom		0.627	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	protein_coding	OTTHUMT00000434379.1	38	106	0	0.00	0	0	C		0	0		5057391	1	no_errors	ENST00000251170	ensembl	human	known	74_37	silent	13	62	46.15	30.34	12	27	SNP	1	G	G	5057391	C	G	5057391	2	3	115	1	0	0	0	0	0	0	0	1	13985	900	32	5		5	SEC14L5	16	5057391	Silent	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09		5057391	85297362	59	2313											
DNAH3	55567	genome.wustl.edu	37	chr16	21136549	21136549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagtgacttaatgaccagctCcctaagctgcagcgacatga	13	8	9	11	1	0	3	0	3	0	0	1	4	1	3	2	0	4	3	2	0	3	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:21136549C>G	ENST00000261383.3	-	9	1350	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	DNAH3_ENST00000415178.1_Missense_Mutation_p.E451Q|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	451	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)		ATGACCAGCTCCCTAAGCTGC	0.448																																							0											0													126	121	123					16																	21136549		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1351G>C	16.37:g.21136549C>G	ENSP00000261383:p.Glu451Gln		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.E451Q	ENST00000261383.3	37	c.1351	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976839	0.34848	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.23348	1.91;2.08	5.75	4.8	0.61643	.	1.027390	0.07714	N	0.942577	T	0.25419	0.0618	L	0.42245	1.32	0.22389	N	0.999141	B;B	0.24132	0.002;0.098	B;B	0.26310	0.003;0.068	T	0.33214	-0.9877	10	0.10377	T	0.69	.	13.8127	0.63273	0.0:0.9255:0.0:0.0745	.	451;422	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	Q	451;451;422	ENSP00000261383:E451Q;ENSP00000394245:E451Q	ENSP00000261383:E451Q	E	-	1	0	DNAH3	21044050	0.956000	0.32656	0.962000	0.40283	0.945000	0.59286	2.497000	0.45354	1.440000	0.47531	0.655000	0.94253	GAG	0	NULL		0.448	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	64	228	0	0.00	0	0	C	NM_017539	0	0		21136549	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	38	166	26.92	20.28	14	43	SNP	0.994	G	G	21136549	C	G	21136549	3	3	115	1	0	0	0	0	1	0	0	0	4603	864	30	5	11214	5	DNAH3	16	21136549	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	16079158	21136549	69218204	60	2314											
GTF3C1	2975	genome.wustl.edu	37	chr16	27556751	27556751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctggatgccatccttattCtctaagatcatatgaatggg	10	13	8	10	0	2	2	1	1	1	1	4	3	3	3	3	2	1	0	3	2	4	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:27556751C>G	ENST00000356183.4	-	2	330	c.315G>C	c.(313-315)gaG>gaC	p.E105D	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E105D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	105					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						CATCCTTATTCTCTAAGATCA	0.453																																							0											0													138	118	125					16																	27556751		2197	4300	6497	SO:0001583	missense	0			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.315G>C	16.37:g.27556751C>G	ENSP00000348510:p.Glu105Asp		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.E105D	ENST00000356183.4	37	c.315	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	6.728	0.503055	0.12822	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.31769	1.48	4.33	3.27	0.37495	.	0.147856	0.44902	D	0.000415	T	0.11495	0.0280	N	0.04994	-0.135	0.28466	N	0.915641	B;B	0.22683	0.073;0.016	B;B	0.19666	0.026;0.011	T	0.07731	-1.0757	10	0.25751	T	0.34	-4.3527	2.8319	0.05503	0.1492:0.4361:0.3067:0.108	.	105;105	Q12789;Q12789-3	TF3C1_HUMAN;.	D	105	ENSP00000348510:E105D	ENSP00000348510:E105D	E	-	3	2	GTF3C1	27464252	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	1.092000	0.30927	2.113000	0.64589	0.491000	0.48974	GAG	0	NULL		0.453	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	protein_coding	OTTHUMT00000433856.1	41	296	0	0.00	0	0	C	NM_001520	0	0		27556751	-1	no_errors	ENST00000356183	ensembl	human	known	74_37	missense	28	186	28.21	27.06	11	69	SNP	1	G	G	27556751	C	G	27556751	3	3	115	1	0	0	0	0	1	0	0	0	6872	912	32	5	6158	5	GTF3C1	16	27556751	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	6420202	27556751	62798002	61	2315											
MAZ	4150	genome.wustl.edu	37	chr16	29821498	29821498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctgtgggctccctctcGggggcggagggggtgcctgt	3	8	19	11	2	1	0	0	0	1	0	3	1	2	1	2	6	2	2	2	6	0	0	rs11559001		TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:29821498G>A	ENST00000322945.6	+	5	1545	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S	AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000566906.2_Missense_Mutation_p.G115R|AC009133.14_ENST00000563806.1_RNA|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000358758.7_5'Flank|AC009133.15_ENST00000566537.1_RNA|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000563402.1_Missense_Mutation_p.G117R|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000568544.1_Silent_p.S61S|MAZ_ENST00000545521.1_Silent_p.S437S|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Silent_p.S155S	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	460					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						GCTCCCTCTCGGGGGCGGAGG	0.677																																					Colon(72;875 1167 15364 30899 37091)		0											0													9	12	11					16																	29821498		1935	4105	6040	SO:0001819	synonymous_variant	0			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.1380G>A	16.37:g.29821498G>A			A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	NULL	p.G117R	ENST00000322945.6	37	c.349	CCDS42143.1	16																																																																																			0	NULL		0.677	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	protein_coding	OTTHUMT00000435536.1	18	35	0	0.00	0	0	G	NM_002383	rs11559001	G->A		29821498	1	no_errors	ENST00000563402	ensembl	human	novel	74_37	missense	5	29	44.44	30.95	4	13	SNP	0.853	A	A	29821498	G	A	29821498	2	1	115	1	0	0	0	0	0	0	0	1	9340	1103	39	2		2	MAZ	16	29821498	Silent	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	2264747	29821498	60533255	62	2316											
CYLD	1540	genome.wustl.edu	37	chr16	50820834	50820834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaaggtggaggctgcatCaggatttacctctgaagaaa	14	9	12	6	0	2	3	1	2	1	1	2	5	2	5	1	4	2	2	1	4	5	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:50820834C>T	ENST00000427738.3	+	12	2223	c.2018C>T	c.(2017-2019)tCa>tTa	p.S673L	CYLD_ENST00000569418.1_Missense_Mutation_p.S670L|CYLD_ENST00000540145.1_Missense_Mutation_p.S673L|CYLD_ENST00000398568.2_Missense_Mutation_p.S670L|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.S673L|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.S670L|CYLD_ENST00000568704.2_Missense_Mutation_p.S488L|CYLD_ENST00000566206.1_Missense_Mutation_p.S670L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	673	USP.				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)				GAGGCTGCATCAGGATTTACC	0.323			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														0	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													112	117	116					16																	50820834		1839	4091	5930	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.	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.2018C>T	16.37:g.50820834C>T	ENSP00000392025:p.Ser673Leu		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.S673L	ENST00000427738.3	37	c.2018	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182046	0.78677	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.32272	1.46;1.46;1.46	5.47	5.47	0.80525	.	0.056003	0.85682	D	0.000000	T	0.50188	0.1601	L	0.58810	1.83	0.80722	D	1	D;D;D	0.57257	0.979;0.974;0.974	P;P;P	0.57846	0.828;0.736;0.736	T	0.49428	-0.8941	10	0.87932	D	0	-10.5133	19.6888	0.95989	0.0:1.0:0.0:0.0	.	670;673;670	A8KAB0;F5H2R7;Q9NQC7-2	.;.;.	L	673;673;670;670	ENSP00000445447:S673L;ENSP00000308928:S673L;ENSP00000381574:S670L	ENSP00000308928:S673L	S	+	2	0	CYLD	49378335	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.171000	0.77595	2.733000	0.93635	0.467000	0.42956	TCA	0	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.323	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	protein_coding	OTTHUMT00000422998.2	91	260	0	0.38	0	1	C		0	0		50820834	1	no_errors	ENST00000311559	ensembl	human	known	74_37	missense	21	157	38.24	32.03	13	74	SNP	1	T	T	50820834	C	T	50820834	3	4	115	1	0	0	0	0	1	0	0	0	4143	838	29	3	2060	3	CYLD	16	50820834	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	20999336	50820834	39533919	63	2317											
PLCG2	5336	genome.wustl.edu	37	chr16	81965142	81965142	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccagaagtcctttgtcttCatcctggagcccaagcagca	11	9	8	13	0	2	1	1	0	1	1	4	2	4	2	4	1	4	2	4	1	3	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr16:81965142C>T	ENST00000359376.3	+	25	2836	c.2622C>T	c.(2620-2622)ttC>ttT	p.F874F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	874					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						CCTTTGTCTTCATCCTGGAGC	0.517																																							0											0													74	79	78					16																	81965142		1899	4121	6020	SO:0001819	synonymous_variant	0				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.2622C>T	16.37:g.81965142C>T			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.F874	ENST00000359376.3	37	c.2622	CCDS42204.1	16																																																																																			0	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma		0.517	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	protein_coding	OTTHUMT00000432429.1	64	241	0	0.00	0	0	C		0	0		81965142	1	no_errors	ENST00000359376	ensembl	human	known	74_37	silent	17	61	26.09	39.60	6	40	SNP	0.603	T	T	81965142	C	T	81965142	2	4	115	1	0	0	0	0	0	0	0	1	12036	825	29	3		3	PLCG2	16	81965142	Silent	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	31144308	81965142	8389611	64	2318											
MYH1	4619	genome.wustl.edu	37	chr17	10411812	10411812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcaatgttgtagtccaCggtgccagcatagtgaatca	10	9	12	10	2	1	1	1	1	0	0	2	1	2	1	3	2	2	4	3	2	4	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr17:10411812C>T	ENST00000226207.5	-	16	1859	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	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	589	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						TTGTAGTCCACGGTGCCAGCA	0.507																																							0											0													103	101	101					17																	10411812		2203	4300	6503	SO:0001583	missense	0				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.1765G>A	17.37:g.10411812C>T	ENSP00000226207:p.Val589Met		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.V589M	ENST00000226207.5	37	c.1765	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781113	0.90282	.	.	ENSG00000109061	ENST00000226207	D	0.93953	-3.32	4.73	4.73	0.59995	Myosin head, motor domain (2);	0.000000	0.38897	U	0.001530	D	0.98422	0.9475	H	0.99732	4.735	0.58432	D	0.999999	D	0.76494	0.999	D	0.70716	0.97	D	0.99585	1.0974	10	0.87932	D	0	.	18.2598	0.90031	0.0:1.0:0.0:0.0	.	589	P12882	MYH1_HUMAN	M	589	ENSP00000226207:V589M	ENSP00000226207:V589M	V	-	1	0	MYH1	10352537	1.000000	0.71417	0.971000	0.41717	0.830000	0.47004	5.646000	0.67916	2.630000	0.89119	0.650000	0.86243	GTG	0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.507	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	protein_coding	OTTHUMT00000252725.1	65	81	0	0.00	0	0	C	NM_005963	0	0		10411812	-1	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	45	50	33.82	20.31	23	13	SNP	1	T	T	10411812	C	T	10411812	3	4	115	1	0	0	0	0	1	0	0	0	10029	536	19	1	4154	1	MYH1	17	10411812	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09		10411812	70783398	65	2319											
MYO15A	51168	genome.wustl.edu	37	chr17	18036682	18036682	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgcacctgggcaacgtCtactttgagaagtatgaggt	10	11	11	9	1	1	2	0	2	1	1	2	3	2	2	2	2	3	3	2	2	4	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr17:18036682C>T	ENST00000205890.5	+	12	4802	c.4464C>T	c.(4462-4464)gtC>gtT	p.V1488V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1488	Myosin motor.				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)					TGGGCAACGTCTACTTTGAGA	0.602																																							0											0													41	44	43					17																	18036682		2073	4200	6273	SO:0001819	synonymous_variant	0			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.4464C>T	17.37:g.18036682C>T			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.V1488	ENST00000205890.5	37	c.4464	CCDS42271.1	17																																																																																			0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	25	127	0	0.00	0	0	C	NM_016239	0	0		18036682	1	no_errors	ENST00000205890	ensembl	human	known	74_37	silent	17	94	32	16.81	8	19	SNP	1	T	T	18036682	C	T	18036682	2	4	115	1	0	0	0	0	0	0	0	1	10063	900	32	3		3	MYO15A	17	18036682	Silent	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	7624870	18036682	63158528	66	2320											
CYB561	1534	genome.wustl.edu	37	chr17	61511941	61511941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaccctcgggctcaaatGcgctatacttgcccctgcag	8	8	10	15	2	1	0	1	0	0	0	2	1	1	1	3	2	4	3	3	2	3	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr17:61511941G>A	ENST00000392976.1	-	6	877	c.578C>T	c.(577-579)gCa>gTa	p.A193V	CYB561_ENST00000360793.3_Missense_Mutation_p.A193V|CYB561_ENST00000582997.1_Missense_Mutation_p.A200V|CYB561_ENST00000448884.2_3'UTR|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000582034.1_Missense_Mutation_p.A164V|CYB561_ENST00000581573.1_Missense_Mutation_p.A193V|CYB561_ENST00000542042.1_Missense_Mutation_p.A260V|CYB561_ENST00000584031.1_3'UTR|RP11-269G24.4_ENST00000584608.1_lincRNA|CYB561_ENST00000392975.2_Missense_Mutation_p.A193V|CYB561_ENST00000582297.1_Intron	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	193	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GGGCTCAAATGCGCTATACTT	0.612																																							0											0													39	40	40					17																	61511941		2203	4300	6503	SO:0001583	missense	0				CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"Cytochrome b genes"	2571	protein-coding gene	gene with protein product	"ferric-chelate reductase 2", "cytochrome b561 family, member A1"	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.578C>T	17.37:g.61511941G>A	ENSP00000376702:p.Ala193Val		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.A193V	ENST00000392976.1	37	c.578	CCDS11636.1	17	.	.	.	.	.	.	.	.	.	.	G	9.624	1.134604	0.21123	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000542042	T;T;T;T	0.64085	-0.05;-0.05;-0.05;-0.08	4.98	-3.35	0.04928	Cytochrome b561/ferric reductase transmembrane (1);	0.993015	0.08197	N	0.982977	T	0.39489	0.1080	N	0.22421	0.69	0.09310	N	1	B;B	0.22480	0.07;0.003	B;B	0.21151	0.033;0.002	T	0.21690	-1.0238	10	0.27082	T	0.32	-1.3474	3.8914	0.09120	0.4042:0.0:0.2541:0.3417	.	260;193	F5H757;P49447	.;CY561_HUMAN	V	193;193;193;260	ENSP00000354028:A193V;ENSP00000376702:A193V;ENSP00000376701:A193V;ENSP00000442773:A260V	ENSP00000354028:A193V	A	-	2	0	CYB561	58865673	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.897000	0.04110	-0.165000	0.10908	-1.355000	0.01225	GCA	0	pfscan_Cyt_b561/ferric_Rdtase_TM		0.612	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB561	protein_coding	OTTHUMT00000444843.1	54	117	0	0.00	0	0	G	NM_001915	0	0		61511941	-1	no_errors	ENST00000360793	ensembl	human	known	74_37	missense	27	59	30.77	28.92	12	24	SNP	0	A	A	61511941	G	A	61511941	3	1	115	1	0	0	0	0	1	0	0	0	4119	1319	46	3	181	3	CYB561	17	61511941	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	43475259	61511941	19683269	67	2321											
RNF213	57674	genome.wustl.edu	37	chr17	78318573	78318573	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatggagctgagtgccctGaggagtgacacagagcctgg	10	6	16	9	0	0	4	0	3	0	1	0	7	0	6	2	3	3	1	2	3	0	0			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr17:78318573G>C	ENST00000582970.1	+	29	6581	c.6438G>C	c.(6436-6438)ctG>ctC	p.L2146L	RNF213_ENST00000508628.2_Silent_p.L2195L|RNF213_ENST00000336301.6_Silent_p.L219L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2146					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)			TGAGTGCCCTGAGGAGTGACA	0.493																																							0											0													118	112	114					17																	78318573		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6438G>C	17.37:g.78318573G>C			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.L2146	ENST00000582970.1	37	c.6438	CCDS58606.1	17																																																																																			0	NULL		0.493	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	50	193	0	0.00	0	0	G	NM_020914	0	0		78318573	1	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	33	107	28.26	22.46	13	31	SNP	0	C	C	78318573	G	C	78318573	2	2	115	1	0	0	0	0	0	0	0	1	13477	1277	45	5		5	RNF213	17	78318573	Silent	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	16806632	78318573	2876637	68	2322											
FZR1	51343	genome.wustl.edu	37	chr19	3532524	3532524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagcacgggctgctggcctCggggggcggcacagctgacc	5	5	17	14	3	1	1	1	1	0	0	2	1	1	1	2	6	3	5	2	6	0	0			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr19:3532524C>T	ENST00000395095.3	+	10	1118	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	FZR1_ENST00000441788.2_Missense_Mutation_p.S373L|FZR1_ENST00000313639.8_Missense_Mutation_p.S284L	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	373					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)		CTGCTGGCCTCGGGGGGCGGC	0.647																																							0											0													33	34	34					19																	3532524		2201	4299	6500	SO:0001583	missense	0			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.1118C>T	19.37:g.3532524C>T	ENSP00000378529:p.Ser373Leu		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.S373L	ENST00000395095.3	37	c.1118	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	c	19.61	3.860428	0.71834	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.72615	-0.67;-0.67;-0.67	5.03	5.03	0.67393	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	D	0.91878	0.7429	H	0.99789	4.78	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.997	P;D;P	0.76575	0.741;0.988;0.804	D	0.95773	0.8810	10	0.87932	D	0	-16.4761	17.0096	0.86401	0.0:1.0:0.0:0.0	.	373;284;373	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	L	373;373;284	ENSP00000410369:S373L;ENSP00000378529:S373L;ENSP00000321800:S284L	ENSP00000321800:S284L	S	+	2	0	FZR1	3483524	1.000000	0.71417	0.075000	0.20258	0.076000	0.17211	7.539000	0.82063	2.353000	0.79882	0.537000	0.68136	TCG	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.647	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	protein_coding	OTTHUMT00000452869.2	32	40	0	0.00	0	0	C	NM_016263	0	0		3532524	1	no_errors	ENST00000395095	ensembl	human	known	74_37	missense	12	26	42.86	23.53	9	8	SNP	0.993	T	T	3532524	C	T	3532524	3	4	115	1	0	0	0	0	1	0	0	0	6138	893	31	2	1156	2	FZR1	19	3532524	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09		3532524	55596459	69	2323											
PIAS4	51588	genome.wustl.edu	37	chr19	4028760	4028760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggggtggagcccaagaggCcgtgccgccccatcaacctc	7	4	13	17	3	1	1	1	0	0	1	2	2	1	2	7	4	3	0	7	4	2	0			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr19:4028760C>T	ENST00000262971.2	+	6	830	c.715C>T	c.(715-717)Ccg>Tcg	p.P239S	PIAS4_ENST00000596144.1_3'UTR	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	239	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCAAGAGGCCGTGCCGCCC	0.652																																							0											0													84	75	78					19																	4028760		2203	4300	6503	SO:0001583	missense	0			AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.715C>T	19.37:g.4028760C>T	ENSP00000262971:p.Pro239Ser		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.P239S	ENST00000262971.2	37	c.715	CCDS12118.1	19	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296250	0.81025	.	.	ENSG00000105229	ENST00000262971	T	0.32988	1.43	4.74	4.74	0.60224	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	M	0.79011	2.435	0.80722	D	1	P	0.51057	0.941	P	0.59221	0.854	T	0.61352	-0.7080	10	0.87932	D	0	-32.5153	16.7056	0.85371	0.0:1.0:0.0:0.0	.	239	Q8N2W9	PIAS4_HUMAN	S	239	ENSP00000262971:P239S	ENSP00000262971:P239S	P	+	1	0	PIAS4	3979760	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	7.764000	0.85297	2.180000	0.69256	0.555000	0.69702	CCG	0	NULL		0.652	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS4	protein_coding	OTTHUMT00000457496.1	45	118	0	0.00	0	0	C	NM_015897	0	0		4028760	1	no_errors	ENST00000262971	ensembl	human	known	74_37	missense	21	92	40	26.40	14	33	SNP	1	T	T	4028760	C	T	4028760	3	4	115	1	0	0	0	0	1	0	0	0	11878	739	26	3	737	3	PIAS4	19	4028760	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	496236	4028760	55100223	70	2324											
FBN3	84467	genome.wustl.edu	37	chr19	8191232	8191232	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccccgggcacaggcagggtCtgcaactgggagaacaagag	11	3	16	11	1	1	2	0	0	1	2	1	3	1	2	2	4	3	3	2	4	3	0			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr19:8191232C>G	ENST00000600128.1	-	21	2969		c.e21-1		FBN3_ENST00000270509.2_Splice_Site|FBN3_ENST00000601739.1_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							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						CAGGCAGGGTCTGCAACTGGG	0.632																																							0											0													33	35	35					19																	8191232		2194	4296	6490	SO:0001630	splice_region_variant	0				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.2555-1G>C	19.37:g.8191232C>G			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Splice_Site	SNP	0	e20-1	ENST00000600128.1	37	c.2555-1	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881794	0.51908	.	.	ENSG00000142449	ENST00000270509	.	.	.	2.87	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5462	0.68032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN3	8097232	1.000000	0.71417	0.960000	0.40013	0.675000	0.39556	4.526000	0.60566	1.574000	0.49760	0.555000	0.69702	.	0	0		0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	96	81	0	0.00	0	0	C	NM_032447	0	0	Intron	8191232	-1	no_errors	ENST00000270509	ensembl	human	known	74_37	splice_site	51	44	12.07	24.14	7	14	SNP	1	G	G	8191232	C	G	8191232	5	3	115	1	0	0	0	0	0	0	1	0	5704	927	32	5	6051	5	FBN3	19	8191232	Splice_Site	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	4162472	8191232	50937751	71	2325											
WDR62	284403	genome.wustl.edu	37	chr19	36558337	36558337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttcttggaagtctccactGagacaaaggtgagtttctgt	9	13	12	7	0	3	2	0	2	3	1	4	4	3	3	1	3	0	2	1	3	2	3			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr19:36558337G>A	ENST00000270301.7	+	6	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K	WDR62_ENST00000388999.3_Missense_Mutation_p.E231K|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000401500.2_Missense_Mutation_p.E231K			O43379	WDR62_HUMAN	WD repeat domain 62	231					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTCTCCACTGAGACAAAGGT	0.532																																							0											0													127	115	119					19																	36558337		2203	4300	6503	SO:0001583	missense	0			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.691G>A	19.37:g.36558337G>A	ENSP00000270301:p.Glu231Lys		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E231K	ENST00000270301.7	37	c.691	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549528	0.65311	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.57273	1.05;0.64;5.06;0.41	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.330730	0.35262	N	0.003332	T	0.49236	0.1545	N	0.17594	0.5	0.42909	D	0.99425	D;P;B	0.62365	0.991;0.765;0.208	P;B;B	0.60012	0.867;0.314;0.038	T	0.30851	-0.9964	10	0.09084	T	0.74	-21.9932	14.3318	0.66561	0.0:0.0:1.0:0.0	.	231;231;231	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	K	231;231;231;231;253	ENSP00000384792:E231K;ENSP00000373651:E231K;ENSP00000368137:E231K;ENSP00000270301:E231K	ENSP00000270301:E231K	E	+	1	0	WDR62	41250177	0.998000	0.40836	0.992000	0.48379	0.976000	0.68499	3.262000	0.51538	2.775000	0.95449	0.650000	0.86243	GAG	0	superfamily_WD40_repeat_dom		0.532	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	protein_coding	OTTHUMT00000457436.1	21	230	0	0.00	0	0	G	NM_015671	0	0		36558337	1	no_errors	ENST00000401500	ensembl	human	known	74_37	missense	17	136	26.09	23.16	6	41	SNP	0.726	A	A	36558337	G	A	36558337	3	1	115	1	0	0	0	0	1	0	0	0	17310	1291	45	3	713	3	WDR62	19	36558337	Missense_Mutation	SNP	G	TCGA-ZC-AAA7-01A-11D-A428-09	28367105	36558337	22570646	72	2326											
NLRP12	91662	genome.wustl.edu	37	chr19	54314512	54314512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgagccggaatttcctgCggacatagtccctgtaggtt	8	11	11	11	2	0	1	0	1	0	0	2	3	2	3	4	3	2	2	4	3	3	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr19:54314512C>T	ENST00000324134.6	-	3	569	c.401G>A	c.(400-402)cGc>cAc	p.R134H	NLRP12_ENST00000391772.1_Missense_Mutation_p.R134H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R134H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R134H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R134H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R134H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R134H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R134H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	134					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)		GAATTTCCTGCGGACATAGTC	0.552																																							0											0													85	83	84					19																	54314512		2203	4300	6503	SO:0001583	missense	0			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.401G>A	19.37:g.54314512C>T	ENSP00000319377:p.Arg134His		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.R134H	ENST00000324134.6	37	c.401	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884395	0.51908	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	4.47	4.47	0.54385	.	0.000000	0.41938	D	0.000800	D	0.93128	0.7812	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.996;0.996;0.997	D	0.93096	0.6504	10	0.72032	D	0.01	.	8.8545	0.35221	0.0:0.8953:0.0:0.1047	.	134;134;134;134	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	134	ENSP00000319377:R134H;ENSP00000438030:R134H;ENSP00000340473:R134H;ENSP00000346231:R134H;ENSP00000375655:R134H;ENSP00000375653:R134H;ENSP00000375652:R134H	ENSP00000319377:R134H	R	-	2	0	NLRP12	59006324	0.000000	0.05858	0.309000	0.25155	0.393000	0.30537	0.417000	0.21214	2.228000	0.72767	0.306000	0.20318	CGC	0	NULL		0.552	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	protein_coding	OTTHUMT00000134340.1	62	243	0	0.00	0	0	C	NM_144687	0	0		54314512	-1	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	42	137	19.23	17.96	10	30	SNP	0.983	T	T	54314512	C	T	54314512	3	4	115	1	0	0	0	0	1	0	0	0	10474	768	27	1	2912	1	NLRP12	19	54314512	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	17756175	54314512	4814471	73	2327											
BMP2	650	genome.wustl.edu	37	chr20	6758985	6758985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacggaggagtttatcacctCagcagagcttcaggttttcc	9	11	10	11	1	3	1	3	0	0	1	4	3	4	3	2	3	2	4	2	3	1	5			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr20:6758985C>T	ENST00000378827.4	+	3	1659	c.440C>T	c.(439-441)tCa>tTa	p.S147L		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	147					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						TTTATCACCTCAGCAGAGCTT	0.383																																							0											0													57	59	58					20																	6758985		2203	4299	6502	SO:0001583	missense	0				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.440C>T	20.37:g.6758985C>T	ENSP00000368104:p.Ser147Leu			Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.S147L	ENST00000378827.4	37	c.440	CCDS13099.1	20	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543653	0.65198	.	.	ENSG00000125845	ENST00000378827	T	0.65732	-0.17	5.86	5.86	0.93980	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	M	0.90483	3.12	0.80722	D	1	D	0.56968	0.978	P	0.55545	0.778	D	0.83872	0.0274	10	0.72032	D	0.01	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	147	P12643	BMP2_HUMAN	L	147	ENSP00000368104:S147L	ENSP00000368104:S147L	S	+	2	0	BMP2	6706985	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	TCA	0	pfam_TGF-b_N		0.383	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP2	protein_coding	OTTHUMT00000077918.3	183	296	0	0.00	0	0	C		0	0		6758985	1	no_errors	ENST00000378827	ensembl	human	known	74_37	missense	109	259	22.14	21.99	31	73	SNP	1	T	T	6758985	C	T	6758985	3	4	115	1	0	0	0	0	1	0	0	0	1459	838	29	3	446	3	BMP2	20	6758985	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09		6758985	56266535	74	2328											
C22orf33	339669	genome.wustl.edu	37	chr22	37397917	37397917	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccaccacattgctcccAaacttgtggcgaatgttgtt	8	13	9	11	1	0	0	0	0	0	0	2	1	2	0	3	2	2	3	3	2	2	4			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr22:37397917A>T	ENST00000405091.2	-	4	701	c.450T>A	c.(448-450)ttT>ttA	p.F150L	TEX33_ENST00000381821.1_Missense_Mutation_p.F150L|TEX33_ENST00000402860.3_Missense_Mutation_p.F65L			O43247	TEX33_HUMAN	testis expressed 33	150																	CATTGCTCCCAAACTTGTGGC	0.557																																							0											0													121	76	91					22																	37397917		2203	4300	6503	SO:0001583	missense	0			BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 33"	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.450T>A	22.37:g.37397917A>T	ENSP00000386118:p.Phe150Leu		B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	NULL	p.F150L	ENST00000405091.2	37	c.450	CCDS54524.1	22	.	.	.	.	.	.	.	.	.	.	.	23.2	4.387169	0.82902	.	.	ENSG00000185264	ENST00000402860;ENST00000405091;ENST00000381821	.	.	.	5.15	-0.646	0.11472	.	0.191802	0.37261	N	0.002165	T	0.69396	0.3106	M	0.71581	2.175	0.36016	D	0.838417	D	0.76494	0.999	D	0.83275	0.996	T	0.71199	-0.4663	9	0.51188	T	0.08	-12.0573	10.3421	0.43884	0.491:0.0:0.509:0.0	.	150	O43247	EAN57_HUMAN	L	65;150;150	.	ENSP00000371243:F150L	F	-	3	2	C22orf33	35727863	0.953000	0.32496	0.991000	0.47740	0.996000	0.88848	-0.182000	0.09726	-0.389000	0.07786	0.533000	0.62120	TTT	0	NULL		0.557	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TEX33	protein_coding	OTTHUMT00000318778.2	38	152	0	0.65	0	1	A	NM_178552	0	0		37397917	-1	no_errors	ENST00000381821	ensembl	human	known	74_37	missense	20	109	38.24	19.85	13	27	SNP	0.991	T	T	37397917	A	T	37397917	3	4	115	1	0	0	0	0	1	0	0	0	2145	127	5	5	408	5	C22orf33	22	37397917	Missense_Mutation	SNP	A	TCGA-ZC-AAA7-01A-11D-A428-09		37397917	13906649	75	2329											
CACNA1I	8911	genome.wustl.edu	37	chr22	40075830	40075830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccatcttccaccactactCctcgcctgccggctgcaaga	7	9	6	19	2	1	1	0	0	1	1	5	1	4	1	6	1	3	2	6	1	2	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chr22:40075830C>T	ENST00000402142.3	+	33	5498	c.5498C>T	c.(5497-5499)tCc>tTc	p.S1833F	CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1839F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1833F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1798F|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1798F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1798F	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1833					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)	CACCACTACTCCTCGCCTGCC	0.597																																							0											0													38	43	41					22																	40075830		2031	4182	6213	SO:0001583	missense	0			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.5498C>T	22.37:g.40075830C>T	ENSP00000385019:p.Ser1833Phe		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.S1839F	ENST00000402142.3	37	c.5516	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049091	0.36181	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97791	-4.52;-4.51;-4.45;-4.41;-4.54;-4.47	4.13	4.13	0.48395	.	2.045600	0.02768	U	0.119388	D	0.97923	0.9317	L	0.56769	1.78	0.41356	D	0.987394	P;B;P;P	0.40875	0.514;0.226;0.731;0.612	B;B;P;B	0.47528	0.33;0.33;0.549;0.347	D	0.90184	0.4245	10	0.51188	T	0.08	.	16.7705	0.85536	0.0:1.0:0.0:0.0	.	1798;1833;1798;1833	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	F	1833;1798;1833;1798;1839;1798	ENSP00000385019:S1833F;ENSP00000384093:S1798F;ENSP00000383887:S1833F;ENSP00000385680:S1798F;ENSP00000337829:S1839F;ENSP00000383028:S1798F	ENSP00000337829:S1839F	S	+	2	0	CACNA1I	38405776	1.000000	0.71417	0.761000	0.31378	0.005000	0.04900	3.538000	0.53597	2.004000	0.58718	0.561000	0.74099	TCC	0	NULL		0.597	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	protein_coding	OTTHUMT00000321290.1	59	156	0	0.00	0	0	C	NM_001003406	0	0		40075830	1	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	29	80	19.44	20.79	7	21	SNP	1	T	T	40075830	C	T	40075830	3	4	115	1	0	0	0	0	1	0	0	0	2546	855	30	3	5628	3	CACNA1I	22	40075830	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09	2677913	40075830	11228736	76	2330											
NKAP	79576	genome.wustl.edu	37	chrX	119077214	119077214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctctcctccctctccttgtCgaggaggctaggccaaggct	5	10	11	15	1	2	0	0	0	2	0	6	2	3	1	4	4	0	3	4	4	2	2			TCGA-ZC-AAA7-01A-11D-A428-09	TCGA-ZC-AAA7-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ffff19c4-ab2a-46f5-b3c0-70ba3d596b83	7d8aa72e-fa4e-4918-8af6-d7a12d3e601d	g.chrX:119077214C>G	ENST00000371410.3	-	1	521	c.355G>C	c.(355-357)Gac>Cac	p.D119H		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	119					granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|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 alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CTCTCCTTGTCGAGGAGGCTA	0.602																																							0											0													42	41	42					X																	119077214		2196	4281	6477	SO:0001583	missense	0			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.355G>C	X.37:g.119077214C>G	ENSP00000360464:p.Asp119His		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	pfam_DUF926	p.D119H	ENST00000371410.3	37	c.355	CCDS14592.1	X	.	.	.	.	.	.	.	.	.	.	c	14.32	2.501090	0.44455	.	.	ENSG00000101882	ENST00000371410	T	0.14766	2.48	4.0	3.14	0.36123	.	0.517740	0.22906	N	0.054186	T	0.20700	0.0498	L	0.29908	0.895	0.38196	D	0.940043	D	0.89917	1.0	D	0.65987	0.94	T	0.03898	-1.0994	10	0.62326	D	0.03	-6.1331	8.8294	0.35074	0.0:0.8884:0.0:0.1116	.	119	Q8N5F7	NKAP_HUMAN	H	119	ENSP00000360464:D119H	ENSP00000360464:D119H	D	-	1	0	NKAP	118961242	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.419000	0.44671	1.071000	0.40834	-0.169000	0.13324	GAC	0	NULL		0.602	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAP	protein_coding	OTTHUMT00000058072.1	44	60	0	0.00	0	0	C	NM_024528	0	0		119077214	-1	no_errors	ENST00000371410	ensembl	human	known	74_37	missense	39	45	25	27.42	13	17	SNP	1	G	G	119077214	C	G	119077214	3	3	115	1	0	0	0	0	1	0	0	0	10439	884	31	5	928	5	NKAP	23	119077214	Missense_Mutation	SNP	C	TCGA-ZC-AAA7-01A-11D-A428-09		119077214	36193346	77	2331											
WDR48	57599	genome.wustl.edu	37	chr3	39126157	39126157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttaactattactttggatGaaagtgattgttttgctgcc	9	18	9	5	0	0	2	0	2	0	0	0	3	0	3	1	1	4	3	1	1	4	7			TCGA-ZC-AAAA-01A-11D-A428-09	TCGA-ZC-AAAA-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c074108-c6e4-4fef-baad-c6251e7e482e	7b806906-44c2-4a83-b21e-f80ec5457c15	g.chr3:39126157G>A	ENST00000302313.5	+	13	1331	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	WDR48_ENST00000396258.3_Missense_Mutation_p.E353K|WDR48_ENST00000544962.1_Missense_Mutation_p.E160K|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	435					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TACTTTGGATGAAAGTGATTG	0.358																																							0											0													89	88	88					3																	39126157		2203	4300	6503	SO:0001583	missense	0			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1303G>A	3.37:g.39126157G>A	ENSP00000307491:p.Glu435Lys		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,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.E435K	ENST00000302313.5	37	c.1303	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.696380	0.96802	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.90069	0.98;-2.61;0.71	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.95043	0.8395	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	0.974;0.995;0.999;1.0	D;D;D;D	0.73708	0.953;0.928;0.968;0.981	D	0.94354	0.7582	10	0.52906	T	0.07	-13.3985	20.2985	0.98592	0.0:0.0:1.0:0.0	.	160;353;426;435	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	K	435;160;353	ENSP00000307491:E435K;ENSP00000445187:E160K;ENSP00000379557:E353K	ENSP00000307491:E435K	E	+	1	0	WDR48	39101161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.823000	0.99369	2.793000	0.96121	0.655000	0.94253	GAA	0	pfam_DUF3337		0.358	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	protein_coding	OTTHUMT00000342529.1	117	297	0	0.00	0	0	G	NM_020839	0	0		39126157	1	no_errors	ENST00000302313	ensembl	human	known	74_37	missense	46	157	9.8	5.39	5	9	SNP	1	A	A	39126157	G	A	39126157	3	1	116	1	0	0	0	0	1	0	0	0	17298	1291	45	3	1353	3	WDR48	3	39126157	Missense_Mutation	SNP	G	TCGA-ZC-AAAA-01A-11D-A428-09		39126157	158896273	1	2332											
HIST1H2AC	8334	genome.wustl.edu	37	chr6	26124472	26124472	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgattgcaatgtctggacgTggtaagcaaggaggcaaagc	12	8	14	7	1	1	1	0	1	1	0	1	3	1	3	0	4	3	4	0	4	4	2			TCGA-ZC-AAAA-01A-11D-A428-09	TCGA-ZC-AAAA-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c074108-c6e4-4fef-baad-c6251e7e482e	7b806906-44c2-4a83-b21e-f80ec5457c15	g.chr6:26124472T>C	ENST00000602637.1	+	1	42	c.12T>C	c.(10-12)cgT>cgC	p.R4R	HIST1H2AC_ENST00000377791.2_Silent_p.R4R|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	4						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						TGTCTGGACGTGGTAAGCAAG	0.512																																							0											0													49	50	50					6																	26124472		2203	4300	6503	SO:0001819	synonymous_variant	0			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.12T>C	6.37:g.26124472T>C			B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R4	ENST00000602637.1	37	c.12	CCDS4585.1	6																																																																																			0	superfamily_Histone-fold,smart_Histone_H2A		0.512	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AC	protein_coding	OTTHUMT00000468023.1	65	248	0	0.00	0	0	T	NM_003512	0	0		26124472	1	no_errors	ENST00000314088	ensembl	human	known	74_37	silent	65	142	8.45	4.05	6	6	SNP	0.001	C	C	26124472	T	C	26124472	2	2	116	1	0	0	0	0	0	0	0	1	7130	1683	59	3		3	HIST1H2AC	6	26124472	Silent	SNP	T	TCGA-ZC-AAAA-01A-11D-A428-09		26124472	144990595	2	2333											
HOXA11	3207	genome.wustl.edu	37	chr7	27224167	27224169	+	In_Frame_Del	DEL	GCC	GCC	-																															gccgccgccgtctcccggcaGccgccgccgccgccgctgtc																										TCGA-ZC-AAAA-01A-11D-A428-09	TCGA-ZC-AAAA-10A-01D-A42B-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c074108-c6e4-4fef-baad-c6251e7e482e	7b806906-44c2-4a83-b21e-f80ec5457c15	g.chr7:27224167_27224169delGCC	ENST00000006015.3	-	1	666_668	c.595_597delGGC	c.(595-597)ggcdel	p.G199del	HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000520360.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	199	Poly-Gly.				anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						tctcccggcagccgccgccgccg	0.768			T	NUP98	CML																																		0		Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0										7,485		3,1,242						2	1			1	20,1804		4,12,896	no	coding	HOXA11	NM_005523.5		7,13,1138	A1A1,A1R,RR		1.0965,1.4228,1.1658				27,2289				SO:0001651	inframe_deletion	0				CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"Homeoboxes / ANTP class : HOXL subclass"	5101	protein-coding gene	gene with protein product		142958	"homeo box A11"	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.595_597delGGC	7.37:g.27224176_27224178delGCC	ENSP00000006015:p.Gly199del		A4D190	In_Frame_Del	DEL	pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G199in_frame_del	ENST00000006015.3	37	c.597_595	CCDS5411.1	7																																																																																			0	NULL		0.768	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA11	protein_coding	OTTHUMT00000358754.1	10	15	0	0.00	0	0	GCC		0	0		27224169	-1	no_errors	ENST00000006015	ensembl	human	known	74_37	in_frame_del	11	9	15.38	0.00	2	0	DEL	0.999:1.000:1.000	0	-	27224169	GCC	-	27224167	7	5	116	1	0	1	0	1	0	0	0	0	7290	958	34	0	352	0	HOXA11	7	27224167	In_Frame_Del	DEL	GCC	TCGA-ZC-AAAA-01A-11D-A428-09		27224167	131914496	3	2334											
CIRBP	1153	genome.wustl.edu	37	chr19	1270978	1270978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttggagggctgagttttGacaccaatgagcagtcgctg	8	12	14	7	1	0	3	0	3	0	0	1	4	0	4	1	2	1	5	1	2	1	4			TCGA-ZC-AAAA-01A-11D-A428-09	TCGA-ZC-AAAA-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0c074108-c6e4-4fef-baad-c6251e7e482e	7b806906-44c2-4a83-b21e-f80ec5457c15	g.chr19:1270978G>A	ENST00000588030.1	+	2	306	c.46G>A	c.(46-48)Gac>Aac	p.D16N	CIRBP_ENST00000587323.1_Missense_Mutation_p.D16N|CIRBP_ENST00000589686.1_Missense_Mutation_p.D16N|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000591935.1_Missense_Mutation_p.D16N|CIRBP_ENST00000589660.1_Missense_Mutation_p.D16N|CIRBP_ENST00000588230.1_Missense_Mutation_p.D16N|CIRBP_ENST00000588090.1_Missense_Mutation_p.D16N|CIRBP_ENST00000587896.1_Missense_Mutation_p.D16N|CIRBP_ENST00000589235.1_Missense_Mutation_p.D16N|CIRBP_ENST00000413636.2_Missense_Mutation_p.D16N|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000444172.2_5'UTR|CIRBP_ENST00000586472.1_Missense_Mutation_p.D16N|CIRBP_ENST00000320936.5_Missense_Mutation_p.D16N|CIRBP_ENST00000586773.1_Missense_Mutation_p.D16N|CIRBP_ENST00000589710.1_Missense_Mutation_p.D16N|CIRBP_ENST00000585630.1_Missense_Mutation_p.D16N			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	16	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		gctgagttttgacaccaatga	0.577																																							0											0													183	189	187					19																	1270978		2203	4300	6503	SO:0001583	missense	0			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.46G>A	19.37:g.1270978G>A	ENSP00000468788:p.Asp16Asn		B3KT17|B4E2X2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.D16N	ENST00000588030.1	37	c.46	CCDS12059.1	19	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869215	0.32977	.	.	ENSG00000099622	ENST00000320936;ENST00000413636	D;D	0.85861	-2.04;-2.04	4.6	3.57	0.40892	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.121135	0.53938	U	0.000044	T	0.77745	0.4176	N	0.25647	0.755	0.80722	D	1	B;B;B	0.34103	0.127;0.392;0.437	B;B;B	0.40982	0.19;0.345;0.241	T	0.69910	-0.5017	10	0.19147	T	0.46	-1.2837	10.9496	0.47321	0.0924:0.0:0.9076:0.0	.	16;16;16	B4E2X2;D6W5Y5;Q14011	.;.;CIRBP_HUMAN	N	16	ENSP00000322887:D16N;ENSP00000412831:D16N	ENSP00000322887:D16N	D	+	1	0	CIRBP	1221978	1.000000	0.71417	0.205000	0.23548	0.057000	0.15508	9.664000	0.98607	0.929000	0.37192	0.563000	0.77884	GAC	0	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.577	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP	protein_coding	OTTHUMT00000449969.1	20	213	0	0.00	0	0	G	NM_001280	0	0		1270978	1	no_errors	ENST00000585914	ensembl	human	known	74_37	missense	16	153	11.11	6.13	2	10	SNP	1	A	A	1270978	G	A	1270978	3	1	116	1	0	0	0	0	1	0	0	0	3433	1290	45	3	48	3	CIRBP	19	1270978	Missense_Mutation	SNP	G	TCGA-ZC-AAAA-01A-11D-A428-09		1270978	57858005	4	2335											
TP73	7161	genome.wustl.edu	37	chr1	3638592	3638592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccactccagtactcccCgctcttgaagaaactctact	9	10	4	18	1	2	2	0	1	2	1	5	2	5	2	5	0	3	2	5	0	4	3			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr1:3638592C>T	ENST00000378295.4	+	5	592	c.437C>T	c.(436-438)cCg>cTg	p.P146L	TP73_ENST00000378290.4_Missense_Mutation_p.P75L|TP73_ENST00000346387.4_Missense_Mutation_p.P146L|TP73_ENST00000378280.1_Missense_Mutation_p.P97L|TP73_ENST00000357733.3_Missense_Mutation_p.P146L|TP73_ENST00000378285.1_Missense_Mutation_p.P97L|TP73_ENST00000604479.1_Missense_Mutation_p.P146L|TP73_ENST00000378288.4_Missense_Mutation_p.P97L|TP73_ENST00000603362.1_Missense_Mutation_p.P146L|TP73_ENST00000604074.1_Missense_Mutation_p.P146L|TP73_ENST00000354437.4_Missense_Mutation_p.P146L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	146	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			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)		CAGTACTCCCCGCTCTTGAAG	0.652																																							0											0													103	96	98					1																	3638592		2203	4300	6503	SO:0001583	missense	0			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.437C>T	1.37:g.3638592C>T	ENSP00000367545:p.Pro146Leu		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	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.P146L	ENST00000378295.4	37	c.437	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532429	0.45073	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	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	3.12	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.71674	0.996;0.998;0.988;0.989;0.962;0.991	B;P;B;P;P;P	0.56278	0.436;0.795;0.309;0.491;0.455;0.699	D	0.97720	1.0196	10	0.66056	D	0.02	-15.6715	13.7221	0.62735	0.0:1.0:0.0:0.0	.	97;97;97;97;146;146	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	L	146;146;146;146;97;97;97;75	ENSP00000367545:P146L;ENSP00000346423:P146L;ENSP00000350366:P146L;ENSP00000340740:P146L;ENSP00000367537:P97L;ENSP00000367534:P97L;ENSP00000367529:P97L;ENSP00000367539:P75L	ENSP00000340740:P146L	P	+	2	0	TP73	3628452	1.000000	0.71417	0.831000	0.32960	0.009000	0.06853	7.386000	0.79775	1.762000	0.52044	0.491000	0.48974	CCG	0	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.652	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	protein_coding	OTTHUMT00000001468.4	63	182	0	0.00	0	0	C	NM_005427	0	0		3638592	1	no_errors	ENST00000378295	ensembl	human	known	74_37	missense	52	144	18.75	10.00	12	16	SNP	0.998	T	T	3638592	C	T	3638592	3	4	117	1	0	0	0	0	1	0	0	0	16390	652	23	2	494	2	TP73	1	3638592	Missense_Mutation	SNP	C	TCGA-ZC-AAAF-01A-11D-A428-09		3638592	245612029	1	2336											
PEX14	5195	genome.wustl.edu	37	chr1	10689946	10689946	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggactgcctgggggtgCagagggaggaccgccggggc	7	3	22	9	2	0	1	0	0	0	1	0	5	0	5	3	8	2	1	3	8	0	0			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr1:10689946C>T	ENST00000356607.4	+	9	1116	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	PEX14_ENST00000538836.1_Nonsense_Mutation_p.Q282*	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	346					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)		CCTGGGGGTGCAGAGGGAGGA	0.662																																							0											0													177	184	182					1																	10689946		2201	4300	6501	SO:0001587	stop_gained	0			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.1036C>T	1.37:g.10689946C>T	ENSP00000349016:p.Gln346*		B2R7N1|B3KML6|B7Z1N2|Q8WX51	Nonsense_Mutation	SNP	pfam_Pex14_N	p.Q346*	ENST00000356607.4	37	c.1036	CCDS30582.1	1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895196	0.72639	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	.	.	.	5.03	5.03	0.67393	.	0.189359	0.49305	D	0.000154	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.9653	0.89098	0.0:1.0:0.0:0.0	.	.	.	.	X	346;282	.	ENSP00000349016:Q346X	Q	+	1	0	PEX14	10612533	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	7.316000	0.79007	2.319000	0.78375	0.563000	0.77884	CAG	0	NULL		0.662	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	protein_coding	OTTHUMT00000005414.1	29	80	0	0.00	0	0	C		0	0		10689946	1	no_errors	ENST00000356607	ensembl	human	known	74_37	nonsense	9	76	25	12.64	3	11	SNP	1	T	T	10689946	C	T	10689946	4	4	117	1	0	0	0	0	0	1	0	0	11742	711	25	3	1070	3	PEX14	1	10689946	Nonsense_Mutation	SNP	C	TCGA-ZC-AAAF-01A-11D-A428-09	7051354	10689946	238560675	2	2337											
HRNR	388697	genome.wustl.edu	37	chr1	152192370	152192370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctaagccagaagagtgacCggagccagactcatatgggc	13	5	12	11	1	1	4	1	1	0	3	1	5	1	5	4	2	2	0	4	2	3	2	rs151024802	byFrequency	TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr1:152192370C>T	ENST00000368801.2	-	3	1810	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	579					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)			GAAGAGTGACCGGAGCCAGAC	0.577																																							0											0								C	SER/GLY	0,4406		0,0,2203	217	218	218		1735	1.2	0	1	dbSNP_134	218	3,8597		0,3,4297	no	missense	HRNR	NM_001009931.1	56	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	579/2851	152192370	3,13003	2203	4300	6503	SO:0001583	missense	0			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.1735G>A	1.37:g.152192370C>T	ENSP00000357791:p.Gly579Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G579S	ENST00000368801.2	37	c.1735	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	9.338	1.062328	0.19987	0.0	3.49E-4	ENSG00000197915	ENST00000368801	T	0.01981	4.52	4.1	1.2	0.21068	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	D	0.52996	0.957	B	0.36567	0.228	T	0.34675	-0.9819	9	0.10636	T	0.68	.	7.5313	0.27685	0.0:0.7047:0.0:0.2953	.	579	Q86YZ3	HORN_HUMAN	S	579	ENSP00000357791:G579S	ENSP00000357791:G579S	G	-	1	0	HRNR	150458994	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.436000	0.06922	0.081000	0.16988	-0.236000	0.12185	GGT	0	NULL		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	75	38	0	0.00	0	0	C	XM_373868	rs151024802	C->T		152192370	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	78	36	7.14	23.40	6	11	SNP	0.003	T	T	152192370	C	T	152192370	3	4	117	1	0	0	0	0	1	0	0	0	7359	652	23	2	6821	2	HRNR	1	152192370	Missense_Mutation	SNP	C	TCGA-ZC-AAAF-01A-11D-A428-09	141502424	152192370	97058251	3	2338											
SCN1A	6323	genome.wustl.edu	37	chr2	166848733	166848733	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacatcccaaagatggcGtagatgaacatgactaggaa	15	8	11	7	1	0	4	0	2	0	2	1	6	1	6	1	3	1	1	1	3	5	3			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr2:166848733G>A	ENST00000303395.4	-	26	5051	c.5052C>T	c.(5050-5052)taC>taT	p.Y1684Y	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.Y1673Y|SCN1A_ENST00000409050.1_Silent_p.Y1656Y|SCN1A_ENST00000423058.2_Silent_p.Y1684Y			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1684					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)	CAAAGATGGCGTAGATGAACA	0.473																																							0											0													181	166	171					2																	166848733		2203	4300	6503	SO:0001819	synonymous_variant	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5052C>T	2.37:g.166848733G>A			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.Y1684	ENST00000303395.4	37	c.5052	CCDS54413.1	2																																																																																			0	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.473	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	133	57	0	0.00	0	0	G	NM_006920	0	0		166848733	-1	no_errors	ENST00000303395	ensembl	human	known	74_37	silent	82	44	14.58	6.38	14	3	SNP	0.934	A	A	166848733	G	A	166848733	2	1	117	1	0	0	0	0	0	0	0	1	13914	1140	40	1		1	SCN1A	2	166848733	Silent	SNP	G	TCGA-ZC-AAAF-01A-11D-A428-09		166848733	76350640	4	2339											
ATP2B2	491	genome.wustl.edu	37	chr3	10400446	10400446	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggatgtcattctcatTgtcccagtccggctccgggc	5	12	12	12	2	2	1	2	1	1	0	6	2	5	2	3	3	0	2	3	3	0	3			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr3:10400446T>C	ENST00000352432.4	-	13	2134	c.2065A>G	c.(2065-2067)Aat>Gat	p.N689D	ATP2B2_ENST00000383800.4_Missense_Mutation_p.N644D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.N689D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.N675D|ATP2B2_ENST00000397077.1_Missense_Mutation_p.N644D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	689					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						TCATTCTCATTGTCCCAGTCC	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)		0											0													73	58	63					3																	10400446		2203	4300	6503	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2065A>G	3.37:g.10400446T>C	ENSP00000324172:p.Asn689Asp		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.N689D	ENST00000352432.4	37	c.2065	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	T	11.42	1.632056	0.29068	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15;-4.15	4.65	3.46	0.39613	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.047993	0.85682	D	0.000000	D	0.85695	0.5756	N	0.01473	-0.845	0.54753	D	0.999989	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.15052	0.007;0.004;0.012	T	0.77638	-0.2513	10	0.08179	T	0.78	-35.7613	11.3291	0.49467	0.0:0.0:0.1526:0.8474	.	624;656;689	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	D	689;644;644;689;675;624;545;689	ENSP00000324172:N689D;ENSP00000373311:N644D;ENSP00000380267:N644D;ENSP00000353414:N689D;ENSP00000344677:N675D;ENSP00000414854:N545D	ENSP00000342954:N689D	N	-	1	0	ATP2B2	10375446	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.386000	0.52492	0.618000	0.30179	0.402000	0.26972	AAT	0	superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma		0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	protein_coding	OTTHUMT00000250576.2	30	105	0	0.00	0	0	T	NM_001683	0	0		10400446	-1	no_errors	ENST00000352432	ensembl	human	known	74_37	missense	11	78	26.67	11.36	4	10	SNP	1	C	C	10400446	T	C	10400446	3	2	117	1	0	0	0	0	1	0	0	0	1140	1812	63	3	1706	3	ATP2B2	3	10400446	Missense_Mutation	SNP	T	TCGA-ZC-AAAF-01A-11D-A428-09		10400446	187621984	5	2340											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	513	148	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	279	125	13.58	10.64	44	15	SNP	1	A	A	74146970	T	A	74146970	3	1	117	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZC-AAAF-01A-11D-A428-09		74146970	84991693	6	2341											
INTS9	55756	genome.wustl.edu	37	chr8	28627418	28627418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctcaccttctccagggtCtgcacgaactgctccacagg	8	8	9	16	1	3	0	1	0	2	0	5	1	4	0	3	2	4	3	3	2	1	1			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr8:28627418C>G	ENST00000521022.1	-	16	1869	c.1788G>C	c.(1786-1788)caG>caC	p.Q596H	INTS9_ENST00000397363.4_Missense_Mutation_p.Q490H|INTS9_ENST00000416984.2_Missense_Mutation_p.Q575H|INTS9_ENST00000521777.1_Missense_Mutation_p.Q572H	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	596					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)		TCTCCAGGGTCTGCACGAACT	0.587											OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													125	97	107					8																	28627418		2203	4300	6503	SO:0001583	missense	0			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.1788G>C	8.37:g.28627418C>G	ENSP00000429065:p.Gln596His	803	B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	pfam_Beta_Casp	p.Q596H	ENST00000521022.1	37	c.1788	CCDS34873.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.627557|1.627557	0.28978|0.28978	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363|ENST00000517383	T;T;T;T|.	0.47177|.	0.85;0.86;0.85;0.85|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.194262|.	0.46758|.	D|.	0.000275|.	T|T	0.61924|0.61924	0.2386|0.2386	L|L	0.47716|0.47716	1.5|1.5	0.43453|0.43453	D|D	0.995644|0.995644	B;B|.	0.20671|.	0.047;0.016|.	B;B|.	0.17433|.	0.018;0.015|.	T|T	0.57659|0.57659	-0.7773|-0.7773	10|5	0.52906|.	T|.	0.07|.	-19.7954|-19.7954	14.0156|14.0156	0.64523|0.64523	0.0:0.928:0.0:0.072|0.0:0.928:0.0:0.072	.|.	575;596|.	B7Z6M5;Q9NV88|.	.;INT9_HUMAN|.	H|T	596;575;440;572;490|70	ENSP00000429065:Q596H;ENSP00000398208:Q575H;ENSP00000430943:Q572H;ENSP00000380520:Q490H|.	ENSP00000380520:Q490H|.	Q|R	-|-	3|2	2|0	INTS9|INTS9	28683337|28683337	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.336000|0.336000	0.28762|0.28762	3.754000|3.754000	0.55189|0.55189	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	CAG|AGA	0	NULL		0.587	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS9	protein_coding	OTTHUMT00000376846.1	34	155	0	0.00	0	0	C	NM_018250	0	0		28627418	-1	no_errors	ENST00000521022	ensembl	human	known	74_37	missense	29	131	9.38	7.75	3	11	SNP	1	G	G	28627418	C	G	28627418	3	3	117	1	0	0	0	0	1	0	0	0	7785	912	32	5	196	5	INTS9	8	28627418	Missense_Mutation	SNP	C	TCGA-ZC-AAAF-01A-11D-A428-09		28627418	117736604	7	2342											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110451154	110451154	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttaacaattaagggctaTaattttggaaatgaactcac	17	13	6	5	0	1	1	1	1	0	0	1	2	1	2	0	2	2	1	0	2	8	7			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr8:110451154T>C	ENST00000378402.5	+	32	3893	c.3789T>C	c.(3787-3789)taT>taC	p.Y1263Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1263	IPT/TIG 6.				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)			TTAAGGGCTATAATTTTGGAA	0.318										HNSCC(38;0.096)																													0											0													43	41	42					8																	110451154		1802	4066	5868	SO:0001819	synonymous_variant	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3789T>C	8.37:g.110451154T>C			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.Y1263	ENST00000378402.5	37	c.3789	CCDS47911.1	8																																																																																			0	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	114	294	0	0.00	0	0	T	NM_177531	0	0		110451154	1	no_errors	ENST00000378402	ensembl	human	known	74_37	silent	67	205	18.29	7.66	15	17	SNP	1	C	C	110451154	T	C	110451154	2	2	117	1	0	0	0	0	0	0	0	1	11972	1413	49	3		3	PKHD1L1	8	110451154	Silent	SNP	T	TCGA-ZC-AAAF-01A-11D-A428-09	81823736	110451154	35912868	8	2343											
DBX1	120237	genome.wustl.edu	37	chr11	20177914	20177914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgggggtcggaggacGcgtggtaggccaggcggtgg	4	6	24	7	4	0	0	0	0	0	0	1	2	0	2	1	10	1	2	1	10	1	1			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr11:20177914G>A	ENST00000524983.2	-	4	1166	c.878C>T	c.(877-879)gCg>gTg	p.A293V	DBX1_ENST00000227256.3_Missense_Mutation_p.A332V			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	293					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						GTCGGAGGACGCGTGGTAGGC	0.731																																							0											0													12	17	15					11																	20177914		2183	4268	6451	SO:0001583	missense	0					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.878C>T	11.37:g.20177914G>A	ENSP00000436881:p.Ala293Val			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A332V	ENST00000524983.2	37	c.995		11	.	.	.	.	.	.	.	.	.	.	G	8.121	0.781040	0.16120	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.91464	-2.85;0.18	5.13	-0.626	0.11544	.	1.040730	0.07553	N	0.915754	T	0.77916	0.4202	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.62081	-0.6929	10	0.29301	T	0.29	-5.9124	1.4907	0.02456	0.317:0.1114:0.3886:0.1831	.	332	F8W811	.	V	293;332	ENSP00000436881:A293V;ENSP00000227256:A332V	ENSP00000227256:A332V	A	-	2	0	DBX1	20134490	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.044000	0.12023	-0.026000	0.13895	-0.768000	0.03414	GCG	0	NULL		0.731	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	DBX1	protein_coding	OTTHUMT00000387585.2	40	43	0	0.00	0	0	G	NM_001029865	0	0		20177914	-1	no_errors	ENST00000227256	ensembl	human	known	74_37	missense	34	21	22.73	22.22	10	6	SNP	0	A	A	20177914	G	A	20177914	3	1	117	1	0	0	0	0	1	0	0	0	4259	1087	38	1	157	1	DBX1	11	20177914	Missense_Mutation	SNP	G	TCGA-ZC-AAAF-01A-11D-A428-09		20177914	114828602	9	2344											
ANO6	196527	genome.wustl.edu	37	chr12	45784258	45784258	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtatacggataaccctcTgtgccagtgctgtctttttc	8	15	8	10	1	2	0	0	0	2	0	3	1	2	1	2	1	4	2	2	1	4	5			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr12:45784258T>A	ENST00000320560.8	+	12	1565	c.1363T>A	c.(1363-1365)Tgt>Agt	p.C455S	ANO6_ENST00000423947.3_Missense_Mutation_p.C476S|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.C455S|ANO6_ENST00000425752.2_Missense_Mutation_p.C455S|ANO6_ENST00000441606.2_Missense_Mutation_p.C437S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	455					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						GATAACCCTCTGTGCCAGTGC	0.303																																							0											0													169	183	178					12																	45784258		2203	4300	6503	SO:0001583	missense	0			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.1363T>A	12.37:g.45784258T>A	ENSP00000320087:p.Cys455Ser		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.C455S	ENST00000320560.8	37	c.1363	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	T	6.079	0.382819	0.11524	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.26	5.26	0.73747	.	0.048654	0.85682	D	0.000000	T	0.26593	0.0650	N	0.02854	-0.475	0.48696	D	0.999691	B;B;B;B	0.16166	0.003;0.001;0.016;0.008	B;B;B;B	0.19666	0.01;0.004;0.026;0.019	T	0.24012	-1.0172	10	0.02654	T	1	.	15.5693	0.76320	0.0:0.0:0.0:1.0	.	437;476;455;455	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	S	455;476;455;455;437	ENSP00000391417:C455S;ENSP00000409126:C476S;ENSP00000413840:C455S;ENSP00000320087:C455S;ENSP00000413137:C437S	ENSP00000320087:C455S	C	+	1	0	ANO6	44070525	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	4.067000	0.57527	2.291000	0.77112	0.533000	0.62120	TGT	0	pfam_Anoctamin		0.303	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	protein_coding	OTTHUMT00000404822.1	153	371	0	0.00	0	0	T	XM_113743	0	0		45784258	1	no_errors	ENST00000425752	ensembl	human	known	74_37	missense	70	280	16.67	11.64	14	37	SNP	1	A	A	45784258	T	A	45784258	3	1	117	1	0	0	0	0	1	0	0	0	701	1580	55	5	1429	5	ANO6	12	45784258	Missense_Mutation	SNP	T	TCGA-ZC-AAAF-01A-11D-A428-09		45784258	88067637	10	2345											
MYBPC1	4604	genome.wustl.edu	37	chr12	102025390	102025390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtcaaggctgaagatCttctgagaaaacccactatc	15	8	7	11	0	3	3	1	2	2	2	4	4	3	3	2	1	1	1	2	1	6	2			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr12:102025390C>A	ENST00000550270.1	+	5	256	c.256C>A	c.(256-258)Ctt>Att	p.L86I	MYBPC1_ENST00000549145.1_Missense_Mutation_p.L99I|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L86I|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L86I|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L86I|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L111I|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L86I|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L60I|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L74I|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L111I|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L86I|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L73I|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L72I|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L86I|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	86	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGCTGAAGATCTTCTGAGAAA	0.443																																							0											0													88	88	88					12																	102025390		2203	4300	6503	SO:0001583	missense	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.256C>A	12.37:g.102025390C>A	ENSP00000449702:p.Leu86Ile		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	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.L111I	ENST00000550270.1	37	c.331	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700170	0.88924	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000363	T	0.65048	0.2654	L	0.57536	1.79	0.80722	D	1	B;P;P;P;P;B;P;P;B;P;P	0.51653	0.088;0.932;0.947;0.883;0.883;0.088;0.858;0.883;0.451;0.858;0.858	P;D;D;D;D;P;D;D;D;D;D	0.91635	0.784;0.995;0.984;0.995;0.999;0.784;0.991;0.996;0.926;0.991;0.997	T	0.63812	-0.6552	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	86;74;86;86;73;60;86;86;111;111;99	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	I	60;86;86;86;73;72;111;99;86;111;86;86;74;111;86	ENSP00000448175:L60I;ENSP00000400908:L86I;ENSP00000388989:L86I;ENSP00000353822:L86I;ENSP00000376665:L73I;ENSP00000447362:L72I;ENSP00000354845:L111I;ENSP00000447660:L99I;ENSP00000447900:L86I;ENSP00000440034:L86I;ENSP00000446128:L86I;ENSP00000442847:L74I;ENSP00000354849:L111I;ENSP00000449702:L86I	ENSP00000353822:L86I	L	+	1	0	MYBPC1	100549521	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.909000	0.63314	2.826000	0.97356	0.655000	0.94253	CTT	0	pfam_Ig_I-set,smart_Ig_sub		0.443	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	protein_coding	OTTHUMT00000408806.1	67	191	0	0.00	0	0	C		0	0		102025390	1	no_errors	ENST00000361466	ensembl	human	known	74_37	missense	39	145	11.36	14.20	5	24	SNP	1	A	A	102025390	C	A	102025390	3	1	117	1	0	0	0	0	1	0	0	0	10011	913	32	5	357	5	MYBPC1	12	102025390	Missense_Mutation	SNP	C	TCGA-ZC-AAAF-01A-11D-A428-09	56241132	102025390	31826505	11	2346											
DHX40	79665	genome.wustl.edu	37	chr17	57654626	57654626	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctttttatatatacttcaGatcaacagaggaggatattt	13	17	6	5	0	3	2	2	0	1	2	3	4	3	4	0	2	2	0	0	2	6	10			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr17:57654626G>A	ENST00000251241.4	+	8	1120		c.e8-1		DHX40_ENST00000451169.2_Splice_Site|DHX40_ENST00000425628.3_Splice_Site	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40								ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATATACTTCAGATCAACAGAG	0.343																																							0											0													73	69	70					17																	57654626		2203	4300	6503	SO:0001630	splice_region_variant	0			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"DEAH-boxes"	18018	protein-coding gene	gene with protein product		607570	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.974-1G>A	17.37:g.57654626G>A			B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Splice_Site	SNP	0	e8-1	ENST00000251241.4	37	c.974-1	CCDS11617.1	17	.	.	.	.	.	.	.	.	.	.	G	9.196	1.027212	0.19512	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.718	0.88343	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX40	55009408	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	8.961000	0.93122	2.179000	0.69175	0.313000	0.20887	.	0	0		0.343	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX40	protein_coding	OTTHUMT00000446095.1	100	333	0	0.00	0	0	G	NM_024612	0	0	Intron	57654626	1	no_errors	ENST00000251241	ensembl	human	known	74_37	splice_site	65	237	10.96	8.81	8	23	SNP	1	A	A	57654626	G	A	57654626	5	1	117	1	0	0	0	0	0	0	1	0	4512	956	33	3	1003	3	DHX40	17	57654626	Splice_Site	SNP	G	TCGA-ZC-AAAF-01A-11D-A428-09		57654626	23540584	12	2347											
ANKRD12	23253	genome.wustl.edu	37	chr18	9257210	9257210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgtagcatgccttctgtCatttgtgaacataccaaaca	13	12	7	9	0	2	2	1	1	1	1	2	2	2	2	2	0	5	2	2	0	4	4			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr18:9257210C>T	ENST00000262126.4	+	9	4185	c.3945C>T	c.(3943-3945)gtC>gtT	p.V1315V	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Silent_p.V1292V|ANKRD12_ENST00000383440.2_Silent_p.V1292V	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1315						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						TGCCTTCTGTCATTTGTGAAC	0.403																																							0											0													132	125	127					18																	9257210		2203	4300	6503	SO:0001819	synonymous_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3945C>T	18.37:g.9257210C>T			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	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.V1315	ENST00000262126.4	37	c.3945	CCDS11843.1	18																																																																																			0	NULL		0.403	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	protein_coding	OTTHUMT00000254478.2	103	340	0	0.00	0	0	C	NM_015208	0	0		9257210	1	no_errors	ENST00000262126	ensembl	human	known	74_37	silent	40	258	20	11.90	10	35	SNP	0.996	T	T	9257210	C	T	9257210	2	4	117	1	0	0	0	0	0	0	0	1	640	813	29	3		3	ANKRD12	18	9257210	Silent	SNP	C	TCGA-ZC-AAAF-01A-11D-A428-09		9257210	68820038	13	2348											
EMR1	2015	genome.wustl.edu	37	chr19	6919662	6919662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccacctctgagatcaaGctgaagatgaattctcgagt	12	11	9	9	1	3	5	1	4	2	2	4	7	3	5	2	0	1	1	2	0	3	2			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr19:6919662G>A	ENST00000312053.4	+	13	1561	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K	EMR1_ENST00000381407.5_Silent_p.K367K|EMR1_ENST00000450315.3_Silent_p.K331K|EMR1_ENST00000250572.8_Silent_p.K508K|EMR1_ENST00000381404.4_Silent_p.K456K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	508	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)					CTGAGATCAAGCTGAAGATGA	0.478																																							0											0													131	121	124					19																	6919662		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1524G>A	19.37:g.6919662G>A			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.K508	ENST00000312053.4	37	c.1524	CCDS12175.1	19																																																																																			0	NULL		0.478	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	protein_coding	OTTHUMT00000458485.1	39	191	0	0.00	0	0	G		0	0		6919662	1	no_errors	ENST00000312053	ensembl	human	known	74_37	silent	35	141	10.26	10.19	4	16	SNP	0.041	A	A	6919662	G	A	6919662	2	1	117	1	0	0	0	0	0	0	0	1	5104	962	34	3		3	EMR1	19	6919662	Silent	SNP	G	TCGA-ZC-AAAF-01A-11D-A428-09		6919662	52209321	14	2349											
CYP4F12	66002	genome.wustl.edu	37	chr19	15806749	15806749	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtgtttccttagggaCgacctggcccagctgccctt	4	11	13	13	1	0	0	0	0	0	0	1	2	1	1	4	4	2	2	4	4	1	3			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr19:15806749C>T	ENST00000550308.1	+	10	1499	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	CYP4F12_ENST00000324632.10_Silent_p.D373D	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	373					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)	TCCTTAGGGACGACCTGGCCC	0.522																																							0											0													89	85	86					19																	15806749		2203	4300	6503	SO:0001819	synonymous_variant	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1119C>T	19.37:g.15806749C>T			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.D373	ENST00000550308.1	37	c.1119	CCDS42517.1	19																																																																																			0	pfam_Cyt_P450,superfamily_Cyt_P450		0.522	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	protein_coding	OTTHUMT00000378938.9	65	133	0	0.75	0	1	C		0	0		15806749	1	no_errors	ENST00000324632	ensembl	human	known	74_37	silent	46	131	13.21	13.82	7	21	SNP	1	T	T	15806749	C	T	15806749	2	4	117	1	0	0	0	0	0	0	0	1	4187	535	19	1		1	CYP4F12	19	15806749	Silent	SNP	C	TCGA-ZC-AAAF-01A-11D-A428-09	8887087	15806749	43322234	15	2350											
PCNT	5116	genome.wustl.edu	37	chr21	47860018	47860018	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcggaaaggtctgcttggaAgccagacgaaacggctccac	11	6	13	11	3	1	1	0	0	1	1	3	4	2	3	2	4	3	2	2	4	3	1			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chr21:47860018A>T	ENST00000359568.5	+	42	9403	c.9296A>T	c.(9295-9297)aAg>aTg	p.K3099M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3099	Interaction with NEK2.				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)					TCTGCTTGGAAGCCAGACGAA	0.607																																							0											0													69	73	71					21																	47860018		2203	4300	6503	SO:0001583	missense	0			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.9296A>T	21.37:g.47860018A>T	ENSP00000352572:p.Lys3099Met		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.K3099M	ENST00000359568.5	37	c.9296	CCDS33592.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.01|14.01	2.406972|2.406972	0.42715|0.42715	.|.	.|.	ENSG00000160299|ENSG00000160299	ENST00000359568|ENST00000418394	T|.	0.01665|.	4.7|.	5.16|5.16	1.47|1.47	0.22746|0.22746	.|.	.|.	.|.	.|.	.|.	T|T	0.32823|0.32823	0.0842|0.0842	L|L	0.32530|0.32530	0.975|0.975	0.29662|0.29662	N|N	0.843112|0.843112	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.72338|.	0.977;0.95|.	T|T	0.30297|0.30297	-0.9983|-0.9983	9|5	0.87932|.	D|.	0|.	.|.	7.7574|7.7574	0.28932|0.28932	0.7521:0.0:0.2479:0.0|0.7521:0.0:0.2479:0.0	.|.	2902;3099|.	O95613-2;O95613|.	.;PCNT_HUMAN|.	M|C	3099|80	ENSP00000352572:K3099M|.	ENSP00000352572:K3099M|.	K|S	+|+	2|1	0|0	PCNT|PCNT	46684446|46684446	0.991000|0.991000	0.36638|0.36638	0.955000|0.955000	0.39395|0.39395	0.040000|0.040000	0.13550|0.13550	0.516000|0.516000	0.22817|0.22817	0.148000|0.148000	0.19059|0.19059	0.533000|0.533000	0.62120|0.62120	AAG|AGC	0	NULL		0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	protein_coding	OTTHUMT00000207336.1	51	98	0	1.01	0	1	A	NM_006031	0	0		47860018	1	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	36	68	18.18	10.53	8	8	SNP	0.997	T	T	47860018	A	T	47860018	3	4	117	1	0	0	0	0	1	0	0	0	11590	72	3	5	9462	5	PCNT	21	47860018	Missense_Mutation	SNP	A	TCGA-ZC-AAAF-01A-11D-A428-09		47860018	269877	16	2351											
PCYT1B	9468	genome.wustl.edu	37	chrX	24580544	24580548	+	Frame_Shift_Del	DEL	GGGTT	GGGTT	-																															gcgggaaggggaccggctccGggttgggctgctcacagggc																										TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	GGGTT	GGGTT	GGGTT	-	GGGTT	GGGTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chrX:24580544_24580548delGGGTT	ENST00000379144.2	-	8	1102_1106	c.972_976delAACCC	c.(970-978)ccaacccggfs	p.TR325fs	PCYT1B_ENST00000356768.4_Intron|PCYT1B_ENST00000379145.1_Frame_Shift_Del_p.TR307fs	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	325					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GACCGGCTCCGGGTTGGGCTGCTCA	0.585																																							0											0																																										SO:0001589	frameshift_variant	0			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.972_976delAACCC	X.37:g.24580544_24580548delGGGTT	ENSP00000368439:p.Thr325fs		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Frame_Shift_Del	DEL	pfam_Cyt_trans-like,tigrfam_Cyt_trans-like	p.T325fs	ENST00000379144.2	37	c.976_972	CCDS14213.1	X																																																																																			0	NULL		0.585	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1B	protein_coding	OTTHUMT00000056103.1	54	180	0	0.00	0	0	GGGTT	NM_004845	0	0		24580548	-1	no_errors	ENST00000379144	ensembl	human	known	74_37	frame_shift_del	32	121	11.11	5.47	4	7	DEL	0.102:0.073:0.869:0.862:0.173	0	-	24580548	GGGTT	-	24580544	7	5	117	1	0	1	0	1	0	0	0	0	11611	1115	39	0	174	0	PCYT1B	23	24580544	Frame_Shift_Del	DEL	GGGTT	TCGA-ZC-AAAF-01A-11D-A428-09		24580544	130690016	17	2352											
DDX26B	203522	genome.wustl.edu	37	chrX	134655184	134655184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgcgcgcccgggacccgGccagccgtggagacaggtac	7	3	16	15	5	0	1	0	0	0	1	0	3	0	2	4	4	4	2	4	4	1	1			TCGA-ZC-AAAF-01A-11D-A428-09	TCGA-ZC-AAAF-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	e6a088d9-72c2-4ee9-9b27-148fedb2fb01	13112162-6020-4a40-ada2-cd2e1131958b	g.chrX:134655184G>A	ENST00000370752.4	+	2	464	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	DDX26B_ENST00000481908.1_3'UTR|DDX26B-AS1_ENST00000430820.1_RNA	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	44	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGACCCGGCCAGCCGTGG	0.652																																							0											0													22	19	20					X																	134655184		2198	4290	6488	SO:0001583	missense	0			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.130G>A	X.37:g.134655184G>A	ENSP00000359788:p.Ala44Thr		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.A44T	ENST00000370752.4	37	c.130	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271436	0.59649	.	.	ENSG00000165359	ENST00000370752	T	0.67345	-0.26	4.43	4.43	0.53597	von Willebrand factor, type A (2);	0.109595	0.64402	D	0.000008	T	0.67702	0.2921	M	0.74258	2.255	0.80722	D	1	B	0.21147	0.052	B	0.30782	0.12	T	0.65088	-0.6253	10	0.26408	T	0.33	-0.1795	13.8491	0.63485	0.0:0.0:1.0:0.0	.	44	Q5JSJ4	DX26B_HUMAN	T	44	ENSP00000359788:A44T	ENSP00000359788:A44T	A	+	1	0	DDX26B	134482850	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	7.178000	0.77657	1.926000	0.55796	0.529000	0.55759	GCC	0	pfscan_VWF_A		0.652	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	protein_coding	OTTHUMT00000058420.1	30	96	0	0.00	0	0	G	NM_182540	0	0		134655184	1	no_errors	ENST00000370752	ensembl	human	known	74_37	missense	28	58	12.5	4.84	4	3	SNP	1	A	A	134655184	G	A	134655184	3	1	117	1	0	0	0	0	1	0	0	0	4353	1203	42	3	136	3	DDX26B	23	134655184	Missense_Mutation	SNP	G	TCGA-ZC-AAAF-01A-11D-A428-09	110074640	134655184	20615376	18	2353											
TMEM47	83604	genome.wustl.edu	37	chrX	34675058	34675058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggtccagacacagcGccaggaagatgcacaccagc	12	2	10	17	1	0	2	0	0	0	2	1	3	1	3	5	2	3	1	5	2	1	0			TCGA-ZC-AAAH-01A-11D-A428-09	TCGA-ZC-AAAH-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6ae36bee-797c-46b4-867a-aa81bd539b6d	a995c290-4ea9-4c50-b58b-b6b478b3da05	g.chrX:34675058G>T	ENST00000275954.3	-	1	347	c.89C>A	c.(88-90)gCg>gAg	p.A30E		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	30						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAGACACAGCGCCAGGAAGAT	0.682																																							0											0													36	29	32					X																	34675058		2178	4261	6439	SO:0001583	missense	0			AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"transmembrane 4 superfamily member 10"	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.89C>A	X.37:g.34675058G>T	ENSP00000275954:p.Ala30Glu		Q5JR44	Missense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.A30E	ENST00000275954.3	37	c.89	CCDS14235.1	X	.	.	.	.	.	.	.	.	.	.	g	23.2	4.383517	0.82792	.	.	ENSG00000147027	ENST00000275954	T	0.79352	-1.26	3.65	2.75	0.32379	.	0.000000	0.85682	D	0.000000	D	0.85805	0.5782	M	0.76328	2.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85306	0.1076	10	0.72032	D	0.01	-1.1234	10.8838	0.46955	0.0:0.0:0.8102:0.1898	.	30	Q9BQJ4	TMM47_HUMAN	E	30	ENSP00000275954:A30E	ENSP00000275954:A30E	A	-	2	0	TMEM47	34584979	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	6.954000	0.76001	0.465000	0.27167	0.417000	0.27973	GCG	0	pfam_Lipome_HGMIC_fus_partner-like		0.682	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM47	protein_coding	OTTHUMT00000056209.1	41	5	0	0.00	0	0	G	NM_031442	0	0		34675058	-1	no_errors	ENST00000275954	ensembl	human	known	74_37	missense	40	5	9.09	0.00	4	0	SNP	1	T	T	34675058	G	T	34675058	3	4	118	1	0	0	0	0	1	0	0	0	16168	1087	38	5	468	5	TMEM47	23	34675058	Missense_Mutation	SNP	G	TCGA-ZC-AAAH-01A-11D-A428-09		34675058	120595502	1	2354											
SERPINE2	5270	genome.wustl.edu	37	chr2	224866430	224866430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcccccagctgaagcatcCccaggaccgacgcaatccca	10	3	8	20	3	0	1	0	1	0	0	2	3	2	2	7	1	2	3	7	1	2	0			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr2:224866430C>A	ENST00000258405.4	-	2	430	c.188G>T	c.(187-189)gGg>gTg	p.G63V	SERPINE2_ENST00000447280.2_Missense_Mutation_p.G75V|SERPINE2_ENST00000409304.1_Missense_Mutation_p.G63V|SERPINE2_ENST00000409840.3_Missense_Mutation_p.G63V	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	63					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTGAAGCATCCCCAGGACCGA	0.567																																							0											0													92	83	86					2																	224866430		2203	4300	6503	SO:0001583	missense	0			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"Serine (or cysteine) peptidase inhibitors"	8951	protein-coding gene	gene with protein product	"glial-derived nexin 1"	177010	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.188G>T	2.37:g.224866430C>A	ENSP00000258405:p.Gly63Val		B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G63V	ENST00000258405.4	37	c.188	CCDS2460.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832692	0.91036	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956	D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.67	5.67	0.87782	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93559	0.6893	10	0.72032	D	0.01	.	19.7698	0.96359	0.0:1.0:0.0:0.0	.	75;63	B4DIF2;P07093	.;GDN_HUMAN	V	63;63;63;75;63;63	ENSP00000386412:G63V;ENSP00000258405:G63V;ENSP00000386969:G63V;ENSP00000415786:G75V;ENSP00000408452:G63V;ENSP00000399655:G63V	ENSP00000258405:G63V	G	-	2	0	SERPINE2	224574674	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	6.998000	0.76277	2.659000	0.90383	0.655000	0.94253	GGG	0	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.567	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	protein_coding	OTTHUMT00000256865.2	16	109	0	0.00	0	0	C	NM_006216	0	0		224866430	-1	no_errors	ENST00000258405	ensembl	human	known	74_37	missense	8	69	38.46	31.68	5	32	SNP	1	A	A	224866430	C	A	224866430	3	1	119	1	0	0	0	0	1	0	0	0	14112	623	22	5	1040	5	SERPINE2	2	224866430	Missense_Mutation	SNP	C	TCGA-ZL-A9V6-01A-11D-A428-09		224866430	18332943	1	2355											
WDR17	116966	genome.wustl.edu	37	chr4	177071055	177071055	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagccttagtcactcctgtAcaaataaatattctggcaga	14	11	6	10	0	2	1	1	0	1	1	3	1	3	1	2	1	2	2	2	1	6	5			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr4:177071055A>C	ENST00000280190.4	+	15	2223	c.2067A>C	c.(2065-2067)gtA>gtC	p.V689V	WDR17_ENST00000508596.1_Silent_p.V665V|WDR17_ENST00000393643.2_Silent_p.V665V|WDR17_ENST00000507824.2_Silent_p.V672V			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	689										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)		TCACTCCTGTACAAATAAATA	0.408																																							0											0													105	109	108					4																	177071055		2203	4300	6503	SO:0001819	synonymous_variant	0			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.2067A>C	4.37:g.177071055A>C			E7EQX0|Q0QD35	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.V689	ENST00000280190.4	37	c.2067	CCDS3825.1	4																																																																																			0	pfscan_WD40_repeat_dom		0.408	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	protein_coding	OTTHUMT00000362334.2	109	226	0	0.00	0	0	A		0	0		177071055	1	no_errors	ENST00000280190	ensembl	human	known	74_37	silent	63	131	30.77	29.95	28	56	SNP	0.984	C	C	177071055	A	C	177071055	2	2	119	1	0	0	0	0	0	0	0	1	17274	378	14	5		5	WDR17	4	177071055	Silent	SNP	A	TCGA-ZL-A9V6-01A-11D-A428-09		177071055	14083221	2	2356											
ODZ3	55714	genome.wustl.edu	37	chr4	183696284	183696284	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaagcccaagggaaagtcaAtgtctttggccgcaagctca	12	7	11	11	1	3	0	2	0	1	0	3	1	3	1	2	2	2	3	2	2	5	1			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr4:183696284A>G	ENST00000511685.1	+	24	5405	c.5282A>G	c.(5281-5283)aAt>aGt	p.N1761S	TENM3_ENST00000406950.2_Missense_Mutation_p.N1761S|RP11-18D7.2_ENST00000513255.1_RNA			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1761					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)										GGGAAAGTCAATGTCTTTGGC	0.522																																							0											0													66	68	67					4																	183696284		2097	4216	6313	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5282A>G	4.37:g.183696284A>G	ENSP00000424226:p.Asn1761Ser		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.N1761S	ENST00000511685.1	37	c.5282	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	A	0.961	-0.703335	0.03255	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.85556	-2.0;-2.0	4.81	4.81	0.61882	.	.	.	.	.	T	0.67915	0.2944	N	0.03324	-0.35	0.35056	D	0.761078	B	0.06786	0.001	B	0.04013	0.001	T	0.66988	-0.5784	9	0.12103	T	0.63	.	14.823	0.70087	1.0:0.0:0.0:0.0	.	1761	Q9P273	TEN3_HUMAN	S	1761	ENSP00000424226:N1761S;ENSP00000385276:N1761S	ENSP00000385276:N1761S	N	+	2	0	ODZ3	183933278	0.992000	0.36948	0.581000	0.28614	0.013000	0.08279	2.918000	0.48829	2.141000	0.66446	0.528000	0.53228	AAT	0	NULL		0.522	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	protein_coding	OTTHUMT00000361734.1	36	266	0	0.00	0	0	A		0	0		183696284	1	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	33	136	17.5	37.90	7	83	SNP	0.672	G	G	183696284	A	G	183696284	3	3	119	1	0	0	0	0	1	0	0	0	10836	101	4	3	5372	3	ODZ3	4	183696284	Missense_Mutation	SNP	A	TCGA-ZL-A9V6-01A-11D-A428-09	6625229	183696284	7457992	3	2357											
DEFB112	245915	genome.wustl.edu	37	chr6	50011451	50011451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcacattgatttttacatCgacctccaatcgctgtacat	11	14	4	12	2	1	1	1	1	0	0	4	2	2	1	2	0	2	2	2	0	3	5			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr6:50011451C>T	ENST00000322246.4	-	2	178	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	60					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					ATTTTTACATCGACCTCCAAT	0.423																																							0											0													215	170	186					6																	50011451		2203	4300	6503	SO:0001583	missense	0			DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"Defensins, beta"	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.179G>A	6.37:g.50011451C>T	ENSP00000319126:p.Arg60Gln		Q8NET0	Missense_Mutation	SNP	NULL	p.R60Q	ENST00000322246.4	37	c.179	CCDS34476.1	6	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.211948	0.01555	.	.	ENSG00000180872	ENST00000322246	T	0.12774	2.65	3.43	-0.956	0.10353	.	1.966570	0.03086	N	0.159152	T	0.01061	0.0035	N	0.01874	-0.695	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.39901	-0.9591	10	0.13470	T	0.59	-0.0675	2.4	0.04399	0.2105:0.2495:0.0:0.54	.	60	Q30KQ8	DB112_HUMAN	Q	60	ENSP00000319126:R60Q	ENSP00000319126:R60Q	R	-	2	0	DEFB112	50119410	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.775000	0.01783	-0.082000	0.12640	-0.492000	0.04666	CGA	0	NULL		0.423	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB112	protein_coding	OTTHUMT00000359672.1	79	233	0	0.00	0	0	C	NM_001037498	0	0		50011451	-1	no_errors	ENST00000322246	ensembl	human	known	74_37	missense	28	136	47.17	31.66	25	63	SNP	0.002	T	T	50011451	C	T	50011451	3	4	119	1	0	0	0	0	1	0	0	0	4401	884	31	2	165	2	DEFB112	6	50011451	Missense_Mutation	SNP	C	TCGA-ZL-A9V6-01A-11D-A428-09		50011451	121103616	4	2358											
IGF2R	3482	genome.wustl.edu	37	chr6	160485520	160485520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccataaggtttatcagcGctccacagccatcttcttct	8	14	6	13	1	4	0	1	0	3	0	5	0	5	0	3	1	3	2	3	1	2	6			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr6:160485520G>A	ENST00000356956.1	+	28	4122	c.3974G>A	c.(3973-3975)cGc>cAc	p.R1325H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1325					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)	p.R1325H(1)		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)	GTTTATCAGCGCTCCACAGCC	0.547																																							0											1	Substitution - Missense(1)	large_intestine(1)											91	97	95					6																	160485520		2203	4300	6503	SO:0001583	missense	0			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.3974G>A	6.37:g.160485520G>A	ENSP00000349437:p.Arg1325His		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.R1325H	ENST00000356956.1	37	c.3974	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.289211	0.95517	.	.	ENSG00000197081	ENST00000356956	T	0.05717	3.4	5.48	5.48	0.80851	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35895	-0.9770	10	0.72032	D	0.01	-10.5374	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1325	P11717	MPRI_HUMAN	H	1325	ENSP00000349437:R1325H	ENSP00000349437:R1325H	R	+	2	0	IGF2R	160405510	1.000000	0.71417	0.948000	0.38648	0.838000	0.47535	9.022000	0.93678	2.576000	0.86940	0.655000	0.94253	CGC	0	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.547	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	protein_coding	OTTHUMT00000042931.1	37	148	0	0.00	0	0	G	NM_000876	0	0		160485520	1	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	18	108	30.77	23.94	8	34	SNP	0.888	A	A	160485520	G	A	160485520	3	1	119	1	0	0	0	0	1	0	0	0	7576	1087	38	1	4084	1	IGF2R	6	160485520	Missense_Mutation	SNP	G	TCGA-ZL-A9V6-01A-11D-A428-09	110474069	160485520	10629547	5	2359											
GTF2I	2969	genome.wustl.edu	37	chr7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcctggagaggatattacTtgcaaaggaaaggattcgtt	12	11	12	6	2	0	1	0	0	0	1	2	5	0	4	1	4	2	2	1	4	4	5			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13	13	13					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	339	122	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	277	79	32.69	38.46	135	50	SNP	1	A	A	74146970	T	A	74146970	3	1	119	1	0	0	0	0	1	0	0	0	6867	1609	56	5	1325	5	GTF2I	7	74146970	Missense_Mutation	SNP	T	TCGA-ZL-A9V6-01A-11D-A428-09		74146970	84991693	6	2360											
ADAM18	8749	genome.wustl.edu	37	chr8	39587436	39587436	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaattcatccgttgtatcaGaaagcgatgacgtgggacat	12	11	11	7	3	2	2	2	1	0	1	3	4	3	3	1	1	1	3	1	1	3	4			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr8:39587436G>T	ENST00000265707.5	+	20	2242	c.2197G>T	c.(2197-2199)Gaa>Taa	p.E733*	ADAM18_ENST00000541111.1_Nonsense_Mutation_p.E147*|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.E709*|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	733					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CGTTGTATCAGAAAGCGATGA	0.323																																							0											0													135	128	130					8																	39587436		2203	4300	6503	SO:0001587	stop_gained	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.2197G>T	8.37:g.39587436G>T	ENSP00000265707:p.Glu733*		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Nonsense_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	p.E733*	ENST00000265707.5	37	c.2197	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	G	45	11.330358	0.99547	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	.	.	.	3.63	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.38614	D	0.950963	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	11.0654	0.47972	0.0:0.0:1.0:0.0	.	.	.	.	X	733;709;147	.	ENSP00000265707:E733X	E	+	1	0	ADAM18	39706593	1.000000	0.71417	0.370000	0.25965	0.010000	0.07245	3.011000	0.49567	2.311000	0.77944	0.655000	0.94253	GAA	0	NULL		0.323	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	protein_coding	OTTHUMT00000376916.1	84	265	0	0.00	0	0	G	NM_014237	0	0		39587436	1	no_errors	ENST00000265707	ensembl	human	known	74_37	nonsense	55	166	36.05	36.64	31	96	SNP	0.457	T	T	39587436	G	T	39587436	4	4	119	1	0	0	0	0	0	1	0	0	239	943	33	5	2275	5	ADAM18	8	39587436	Nonsense_Mutation	SNP	G	TCGA-ZL-A9V6-01A-11D-A428-09		39587436	106776586	7	2361											
ZBTB10	65986	genome.wustl.edu	37	chr8	81411811	81411811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttattgctatcaacttctgcGacaactaaatgaacagagaa	16	11	6	8	1	2	2	1	1	1	1	2	4	2	2	0	0	5	1	0	0	8	5			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr8:81411811G>A	ENST00000430430.1	+	3	1834	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	ZBTB10_ENST00000426744.2_Missense_Mutation_p.R352Q|ZBTB10_ENST00000379091.4_Missense_Mutation_p.R60Q|ZBTB10_ENST00000455036.3_Missense_Mutation_p.R352Q	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	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)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			CAACTTCTGCGACAACTAAAT	0.388																																							0											0													81	82	82					8																	81411811		1884	4121	6005	SO:0001583	missense	0			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1055G>A	8.37:g.81411811G>A	ENSP00000387462:p.Arg352Gln		A4FVD0|Q86W96|Q8IXI9|Q96MH9	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.R352Q	ENST00000430430.1	37	c.1055	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	G	4.749	0.139268	0.09083	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.34	4.35	0.52113	BTB/POZ fold (2);	0.329365	0.27700	N	0.018218	T	0.34803	0.0910	N	0.02916	-0.46	0.40234	D	0.977882	B;B;B;B	0.21147	0.002;0.019;0.052;0.048	B;B;B;B	0.12156	0.001;0.002;0.005;0.007	T	0.46219	-0.9207	10	0.02654	T	1	.	3.4452	0.07478	0.3699:0.0:0.6301:0.0	.	208;352;352;60	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	Q	60;352;352;352;180	ENSP00000368384:R60Q;ENSP00000387462:R352Q;ENSP00000412036:R352Q;ENSP00000416134:R352Q	ENSP00000368384:R60Q	R	+	2	0	ZBTB10	81574366	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.191000	0.65110	2.507000	0.84556	0.650000	0.86243	CGA	0	superfamily_BTB/POZ_fold		0.388	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	protein_coding	OTTHUMT00000338055.2	111	196	0	0.00	0	0	G	NM_023929	0	0		81411811	1	no_errors	ENST00000430430	ensembl	human	known	74_37	missense	78	156	30.97	32.33	35	75	SNP	1	A	A	81411811	G	A	81411811	3	1	119	1	0	0	0	0	1	0	0	0	17520	1058	37	2	1061	2	ZBTB10	8	81411811	Missense_Mutation	SNP	G	TCGA-ZL-A9V6-01A-11D-A428-09	41824375	81411811	64952211	8	2362											
YME1L1	10730	genome.wustl.edu	37	chr10	27434500	27434500	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttcagataatccaaggTcccttaagttaagtgaaggc	13	12	9	7	0	1	2	1	1	0	1	3	2	3	2	2	2	0	2	2	2	6	5			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr10:27434500T>A	ENST00000326799.3	-	4	507	c.359A>T	c.(358-360)gAc>gTc	p.D120V	YME1L1_ENST00000376016.3_Missense_Mutation_p.D63V|YME1L1_ENST00000375972.3_Missense_Mutation_p.D63V|YME1L1_ENST00000477432.1_3'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	120					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						TAATCCAAGGTCCCTTAAGTT	0.338																																							0											0													89	95	93					10																	27434500		2203	4300	6503	SO:0001583	missense	0			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.359A>T	10.37:g.27434500T>A	ENSP00000318480:p.Asp120Val		B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.D120V	ENST00000326799.3	37	c.359	CCDS7152.1	10	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420303	0.83559	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.95342	-3.36;-3.37;-3.68	5.69	5.69	0.88448	Peptidase M41, FtsH (1);	0.137242	0.64402	D	0.000004	D	0.93733	0.7997	L	0.34521	1.04	0.58432	D	0.999999	B;P;P	0.49307	0.449;0.796;0.922	B;P;P	0.51999	0.283;0.687;0.682	D	0.94593	0.7789	10	0.87932	D	0	-15.1662	15.6765	0.77332	0.0:0.0:0.0:1.0	.	63;63;120	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	V	63;120;120;63;63;55	ENSP00000365184:D63V;ENSP00000318480:D120V;ENSP00000365139:D63V	ENSP00000318480:D120V	D	-	2	0	YME1L1	27474506	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.751000	0.68720	2.191000	0.70037	0.529000	0.55759	GAC	0	NULL		0.338	YME1L1-005	KNOWN	basic|CCDS	protein_coding	YME1L1	protein_coding	OTTHUMT00000047306.1	68	280	0	0.00	0	0	T	NM_139312	0	0		27434500	-1	no_errors	ENST00000326799	ensembl	human	known	74_37	missense	56	166	20.83	34.65	15	88	SNP	1	A	A	27434500	T	A	27434500	3	1	119	1	0	0	0	0	1	0	0	0	17484	1667	58	5	2030	5	YME1L1	10	27434500	Missense_Mutation	SNP	T	TCGA-ZL-A9V6-01A-11D-A428-09		27434500	108100247	9	2363											
PAOX	196743	genome.wustl.edu	37	chr10	135193684	135193684	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgccagctccggggccagCgtgagcctccagctggtggc	5	6	15	15	3	0	1	0	1	0	0	2	1	2	1	5	4	5	2	5	4	1	1	rs527822098		TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr10:135193684C>T	ENST00000278060.5	+	2	446	c.363C>T	c.(361-363)agC>agT	p.S121S	PAOX_ENST00000368539.4_Intron|PAOX_ENST00000357296.3_Silent_p.S121S|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Silent_p.S121S	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	259					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)		CCGGGGCCAGCGTGAGCCTCC	0.687													C|||	1	0.000199681	0	0	5008	,	,		15721	0		0	False		,,,				2504	0.001						0											0													30	31	31					10																	135193684		2196	4297	6493	SO:0001819	synonymous_variant	0			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.363C>T	10.37:g.135193684C>T			D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	pfam_Amino_oxidase	p.S121	ENST00000278060.5	37	c.363	CCDS7683.1	10																																																																																			0	pfam_Amino_oxidase		0.687	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	protein_coding	OTTHUMT00000051146.2	77	48	0	0.00	0	0	C	NM_152911	rs527822098	C->T		135193684	1	no_errors	ENST00000278060	ensembl	human	known	74_37	silent	24	35	40	50.70	16	36	SNP	0.001	T	T	135193684	C	T	135193684	2	4	119	1	0	0	0	0	0	0	0	1	11423	767	27	1		1	PAOX	10	135193684	Silent	SNP	C	TCGA-ZL-A9V6-01A-11D-A428-09	107759184	135193684	341063	10	2364											
HRAS	3265	genome.wustl.edu	37	chr11	533552	533552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgtgcagccaggtcacaCttgttccccaccagcaccat	8	8	9	16	1	1	0	1	0	0	0	2	0	2	0	5	1	4	3	5	1	0	2			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr11:533552C>A	ENST00000451590.1	-	4	538	c.351G>T	c.(349-351)aaG>aaT	p.K117N	HRAS_ENST00000397594.1_Missense_Mutation_p.K117N|HRAS_ENST00000311189.7_Missense_Mutation_p.K117N|HRAS_ENST00000397596.2_Missense_Mutation_p.K117N|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000417302.1_Missense_Mutation_p.K117N	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	117			K -> R (in CSTLO). {ECO:0000269|PubMed:16443854}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.K117N(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;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)		CCAGGTCACACTTGTTCCCCA	0.632		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"E, L, M"	3	Substitution - Missense(3)	urinary_tract(2)|thyroid(1)											199	177	184					11																	533552		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.351G>T	11.37:g.533552C>A	ENSP00000407586:p.Lys117Asn		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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.K117N	ENST00000451590.1	37	c.351	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494433	0.64186	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	4.08	2.12	0.27331	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	H	0.99951	5.03	0.80722	D	1	D;D	0.57257	0.979;0.966	P;P	0.57204	0.815;0.759	D	0.92778	0.6238	10	0.87932	D	0	.	6.1696	0.20410	0.0:0.5874:0.0:0.4125	.	117;117	P01112-2;P01112	.;RASH_HUMAN	N	117	ENSP00000380722:K117N;ENSP00000380723:K117N;ENSP00000407586:K117N;ENSP00000388246:K117N;ENSP00000309845:K117N	ENSP00000309845:K117N	K	-	3	2	HRAS	523552	0.940000	0.31905	1.000000	0.80357	0.996000	0.88848	0.073000	0.14640	0.831000	0.34780	0.561000	0.74099	AAG	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,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		0.632	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	49	175	0	0.00	0	0	C	NM_176795	0	0		533552	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	21	92	32.26	38.26	10	57	SNP	0.999	A	A	533552	C	A	533552	3	1	119	1	0	0	0	0	1	0	0	0	7348	564	20	5	293	5	HRAS	11	533552	Missense_Mutation	SNP	C	TCGA-ZL-A9V6-01A-11D-A428-09		533552	134472964	11	2365											
MADD	8567	genome.wustl.edu	37	chr11	47311710	47311710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgttgcaggagatcagtcGgaaggtgtacaagggaatgt	12	10	15	4	1	1	1	1	0	0	1	2	4	1	3	0	4	2	3	0	4	4	3			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr11:47311710G>T	ENST00000311027.5	+	19	3179	c.3014G>T	c.(3013-3015)cGg>cTg	p.R1005L	MADD_ENST00000402799.1_Missense_Mutation_p.R942L|MADD_ENST00000406482.1_Missense_Mutation_p.R942L|MADD_ENST00000342922.4_Missense_Mutation_p.R985L|MADD_ENST00000405573.2_5'Flank|MADD_ENST00000402192.2_Missense_Mutation_p.R985L|MADD_ENST00000407859.3_Missense_Mutation_p.R962L|MADD_ENST00000349238.3_Missense_Mutation_p.R1005L|MADD_ENST00000395336.3_Missense_Mutation_p.R1005L|MADD_ENST00000395344.3_Missense_Mutation_p.R942L	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)		GAGATCAGTCGGAAGGTGTAC	0.542																																							0											0													124	107	112					11																	47311710		2201	4298	6499	SO:0001583	missense	0			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.3014G>T	11.37:g.47311710G>T	ENSP00000310933:p.Arg1005Leu			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.R1005L	ENST00000311027.5	37	c.3014	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.192388	0.94960	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.09445	3.18;2.99;2.99;3.22;3.25;3.05;2.98;3.24;3.18	5.56	5.56	0.83823	.	0.056341	0.64402	D	0.000002	T	0.30885	0.0779	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;P;D;P;D	0.64830	0.98;0.983;0.965;0.99;0.994;0.98;0.937;0.965;0.942;0.968	P;P;P;P;P;P;P;P;P;P	0.62298	0.796;0.796;0.819;0.9;0.9;0.774;0.819;0.774;0.664;0.774	T	0.00797	-1.1562	10	0.87932	D	0	-11.7551	19.5322	0.95234	0.0:0.0:1.0:0.0	.	942;942;1005;942;942;942;1005;962;1005;985	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	985;942;942;942;1005;1005;962;942;1005;985	ENSP00000343902:R985L;ENSP00000385585:R942L;ENSP00000384435:R942L;ENSP00000304505:R1005L;ENSP00000310933:R1005L;ENSP00000384204:R962L;ENSP00000378753:R942L;ENSP00000378745:R1005L;ENSP00000384287:R985L	ENSP00000310933:R1005L	R	+	2	0	MADD	47268286	1.000000	0.71417	0.120000	0.21714	0.953000	0.61014	9.466000	0.97665	2.620000	0.88729	0.448000	0.29417	CGG	0	NULL		0.542	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	protein_coding	OTTHUMT00000317746.1	50	200	0	0.00	0	0	G		0	0		47311710	1	no_errors	ENST00000311027	ensembl	human	known	74_37	missense	29	185	9.38	4.62	3	9	SNP	1	T	T	47311710	G	T	47311710	3	4	119	1	0	0	0	0	1	0	0	0	9152	1116	39	5	3084	5	MADD	11	47311710	Missense_Mutation	SNP	G	TCGA-ZL-A9V6-01A-11D-A428-09	46778158	47311710	87694806	12	2366											
PYGM	5837	genome.wustl.edu	37	chr11	64522263	64522263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctggagggtggcagccaCcacgaaatactcctgcttca	9	8	11	13	1	1	0	1	0	0	0	3	2	3	1	4	3	3	2	4	3	2	2			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr11:64522263C>T	ENST00000164139.3	-	8	1299	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	PYGM_ENST00000377432.3_Missense_Mutation_p.V213M|PYGM_ENST00000462303.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	301					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						GTGGCAGCCACCACGAAATAC	0.592																																							0											0													88	69	75					11																	64522263		2201	4297	6498	SO:0001583	missense	0				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.901G>A	11.37:g.64522263C>T	ENSP00000164139:p.Val301Met		A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.V301M	ENST00000164139.3	37	c.901	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.300303	0.95574	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94966	-3.57;-3.57	4.89	4.89	0.63831	.	0.121205	0.37219	N	0.002187	D	0.98049	0.9357	H	0.97611	4.04	0.80722	D	1	D;D	0.54601	0.957;0.967	P;P	0.61397	0.888;0.831	D	0.99194	1.0871	10	0.87932	D	0	-32.1317	15.5838	0.76465	0.0:1.0:0.0:0.0	.	213;301	A6NDY6;P11217	.;PYGM_HUMAN	M	213;301;282	ENSP00000366650:V213M;ENSP00000164139:V301M	ENSP00000164139:V301M	V	-	1	0	PYGM	64278839	1.000000	0.71417	0.979000	0.43373	0.873000	0.50193	7.651000	0.83577	2.551000	0.86045	0.561000	0.74099	GTG	0	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.592	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	protein_coding	OTTHUMT00000143254.2	70	91	0	0.00	0	0	C	NM_005609	0	0		64522263	-1	no_errors	ENST00000164139	ensembl	human	known	74_37	missense	23	50	39.47	34.21	15	26	SNP	1	T	T	64522263	C	T	64522263	3	4	119	1	0	0	0	0	1	0	0	0	12862	507	18	3	1679	3	PYGM	11	64522263	Missense_Mutation	SNP	C	TCGA-ZL-A9V6-01A-11D-A428-09	17210553	64522263	70484253	13	2367											
CTSG	1511	genome.wustl.edu	37	chr14	25042983	25042983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacgatgccgtgggccaCattgttacacagcagggggc	9	6	16	10	2	0	1	0	0	0	1	0	3	0	1	2	4	3	2	2	4	1	2			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr14:25042983C>T	ENST00000216336.2	-	5	664	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	210	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)		CCGTGGGCCACATTGTTACAC	0.582																																							0											0													93	101	98					14																	25042983		2203	4300	6503	SO:0001583	missense	0			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.628G>A	14.37:g.25042983C>T	ENSP00000216336:p.Val210Met		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.V210M	ENST00000216336.2	37	c.628	CCDS9631.1	14	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317543	0.23908	.	.	ENSG00000100448	ENST00000216336	D	0.93763	-3.28	4.63	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.236875	0.21631	N	0.071498	D	0.93635	0.7967	M	0.76002	2.32	0.25721	N	0.985375	B	0.20368	0.044	B	0.39503	0.301	D	0.88188	0.2875	10	0.59425	D	0.04	.	9.9505	0.41636	0.0:0.7932:0.2068:0.0	.	210	P08311	CATG_HUMAN	M	210	ENSP00000216336:V210M	ENSP00000216336:V210M	V	-	1	0	CTSG	24112823	0.000000	0.05858	0.878000	0.34440	0.013000	0.08279	-0.741000	0.04855	2.504000	0.84457	0.549000	0.68633	GTG	0	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.582	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSG	protein_coding	OTTHUMT00000276536.2	45	160	0	0.00	0	0	C	NM_001911	0	0		25042983	-1	no_errors	ENST00000216336	ensembl	human	known	74_37	missense	24	135	31.43	26.63	11	49	SNP	0.534	T	T	25042983	C	T	25042983	3	4	119	1	0	0	0	0	1	0	0	0	4035	478	17	3	143	3	CTSG	14	25042983	Missense_Mutation	SNP	C	TCGA-ZL-A9V6-01A-11D-A428-09		25042983	82306557	14	2368											
CHRNA7	1139	genome.wustl.edu	37	chr15	32460238	32460238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagcacaagcagcggcGctgcagcctggccagtgtgg	7	5	15	14	2	0	0	0	0	0	0	0	0	0	0	3	3	6	4	3	3	1	0	rs199698778		TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr15:32460238G>A	ENST00000306901.3	+	10	1185	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	CHRNA7_ENST00000454250.3_Missense_Mutation_p.R392H|CHRNA7_ENST00000455693.2_Missense_Mutation_p.R182H	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	363					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)	AAGCAGCGGCGCTGCAGCCTG	0.687																																					Esophageal Squamous(193;529 2900 40232 43193)		0											0								G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	37	44	42		1088,1175	3.8	1	15		42	2,8590	1.2+/-3.3	0,2,4294	no	missense,missense	CHRNA7	NM_000746.4,NM_001190455.1	29,29	0,2,6492	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	363/503,392/532	32460238	2,12986	2198	4296	6494	SO:0001583	missense	0			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.1088G>A	15.37:g.32460238G>A	ENSP00000303727:p.Arg363His		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.R392H	ENST00000306901.3	37	c.1175	CCDS10027.1	15	.	.	.	.	.	.	.	.	.	.	g	14.40	2.523165	0.44866	0.0	2.33E-4	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	D;D;D	0.84146	-1.81;-1.81;-1.81	3.84	3.84	0.44239	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.373152	0.32015	N	0.006704	T	0.78432	0.4282	L	0.35644	1.08	0.51233	D	0.999917	B;B	0.17268	0.021;0.011	B;B	0.18263	0.021;0.021	T	0.74197	-0.3743	10	0.33141	T	0.24	.	14.0826	0.64934	0.0:0.0:1.0:0.0	.	392;363	B4DFS0;P36544	.;ACHA7_HUMAN	H	273;392;363;182	ENSP00000407546:R392H;ENSP00000303727:R363H;ENSP00000405989:R182H	ENSP00000303727:R363H	R	+	2	0	CHRNA7	30247530	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.940000	0.56599	2.434000	0.82447	0.650000	0.86243	CGC	0	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.687	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	protein_coding	OTTHUMT00000251410.2	106	71	0	0.00	0	0	G		rs199698778	G->A		32460238	1	no_errors	ENST00000454250	ensembl	human	known	74_37	missense	92	42	12.26	23.64	13	13	SNP	1	A	A	32460238	G	A	32460238	3	1	119	1	0	0	0	0	1	0	0	0	3388	1087	38	1	1126	1	CHRNA7	15	32460238	Missense_Mutation	SNP	G	TCGA-ZL-A9V6-01A-11D-A428-09		32460238	70071154	15	2369											
DHX33	56919	genome.wustl.edu	37	chr17	5372037	5372039	+	In_Frame_Del	DEL	CCT	CCT	-																															ggggcggctgctgcctccggCctcctcctcctcctctgccg																										TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr17:5372037_5372039delCCT	ENST00000225296.3	-	1	341_343	c.141_143delAGG	c.(139-144)ggaggc>ggc	p.47_48GG>G	CTC-524C5.5_ENST00000571506.1_lincRNA|DHX33_ENST00000433302.3_In_Frame_Del_p.47_48GG>G	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	47					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGCCTCCGGCCTCCTCCTCCTC	0.724																																							0											0									,	85,4071		5,75,1998					,	2.9	1			12	159,7947		11,137,3905	no	coding,utr-5	DHX33	NM_020162.3,NM_001199699.1	,	16,212,5903	A1A1,A1R,RR		1.9615,2.0452,1.9899	,	,		244,12018				SO:0001651	inframe_deletion	0			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"DEAH-boxes"	16718	protein-coding gene	gene with protein product		614405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.141_143delAGG	17.37:g.5372046_5372048delCCT	ENSP00000225296:p.Gly48del		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	In_Frame_Del	DEL	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.G48in_frame_del	ENST00000225296.3	37	c.143_141	CCDS11072.1	17																																																																																			0	NULL		0.724	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX33	protein_coding	OTTHUMT00000219826.2	31	5	0	0.00	0	0	CCT	NM_020162	0	0		5372039	-1	no_errors	ENST00000225296	ensembl	human	known	74_37	in_frame_del	12	7	14.29	0.00	2	0	DEL	1.000:1.000:1.000	0	-	5372039	CCT	-	5372037	7	5	119	1	0	1	0	1	0	0	0	0	4506	739	26	0	2028	0	DHX33	17	5372037	In_Frame_Del	DEL	CCT	TCGA-ZL-A9V6-01A-11D-A428-09		5372037	75823173	16	2370											
MIB1	57534	genome.wustl.edu	37	chr18	19418334	19418334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaactttcagtgcaatgcGtgttttactatctaaattac	11	18	5	7	1	2	0	1	0	1	0	2	0	2	0	0	0	5	2	0	0	7	8			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr18:19418334G>A	ENST00000261537.6	+	13	2102	c.1838G>A	c.(1837-1839)cGt>cAt	p.R613H	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	613					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AGTGCAATGCGTGTTTTACTA	0.318																																							0											0													111	105	107					18																	19418334		2203	4300	6503	SO:0001583	missense	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1838G>A	18.37:g.19418334G>A	ENSP00000261537:p.Arg613His		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.R613H	ENST00000261537.6	37	c.1838	CCDS11871.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.463915	0.96257	.	.	ENSG00000101752	ENST00000261537	T	0.66460	-0.21	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	L	0.35542	1.07	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	T	0.77247	-0.2658	10	0.87932	D	0	-20.6702	19.9918	0.97368	0.0:0.0:1.0:0.0	.	613	Q86YT6	MIB1_HUMAN	H	613	ENSP00000261537:R613H	ENSP00000261537:R613H	R	+	2	0	MIB1	17672332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.334000	0.96470	2.728000	0.93425	0.585000	0.79938	CGT	0	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.318	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	protein_coding	OTTHUMT00000254675.1	90	221	0	0.89	0	2	G	NM_020774	0	0		19418334	1	no_errors	ENST00000261537	ensembl	human	known	74_37	missense	84	147	27.59	31.63	32	68	SNP	1	A	A	19418334	G	A	19418334	3	1	119	1	0	0	0	0	1	0	0	0	9566	1145	40	1	1888	1	MIB1	18	19418334	Missense_Mutation	SNP	G	TCGA-ZL-A9V6-01A-11D-A428-09		19418334	58658914	17	2371											
ABCA7	10347	genome.wustl.edu	37	chr19	1043091	1043091	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactgctgcagagacccCgagggaccagcggccccctg	7	3	15	16	2	0	1	0	0	0	1	0	4	0	2	5	3	3	3	5	3	0	0	rs148324257		TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr19:1043091C>T	ENST00000263094.6	+	8	862	c.631C>T	c.(631-633)Cga>Tga	p.R211*	ABCA7_ENST00000435683.2_Nonsense_Mutation_p.R73*|ABCA7_ENST00000433129.1_Nonsense_Mutation_p.R211*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	211					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)		GCAGAGACCCCGAGGGACCAG	0.652																																							0											0													32	37	35					19																	1043091		2201	4300	6501	SO:0001587	stop_gained	0			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.631C>T	19.37:g.1043091C>T	ENSP00000263094:p.Arg211*		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R211*	ENST00000263094.6	37	c.631	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364470	0.61513	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	.	.	.	4.1	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	7.8886	0.29665	0.0:0.8806:0.0:0.1194	.	.	.	.	X	211	.	ENSP00000263094:R211X	R	+	1	2	ABCA7	994091	0.000000	0.05858	0.029000	0.17559	0.041000	0.13682	0.492000	0.22435	0.859000	0.35456	0.313000	0.20887	CGA	0	NULL		0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	protein_coding	OTTHUMT00000394993.1	25	28	0	0.00	0	0	C	NM_019112	0	0		1043091	1	no_errors	ENST00000263094	ensembl	human	known	74_37	nonsense	16	7	20	61.11	4	11	SNP	0.016	T	T	1043091	C	T	1043091	4	4	119	1	0	0	0	0	0	1	0	0	37	644	23	2	657	2	ABCA7	19	1043091	Nonsense_Mutation	SNP	C	TCGA-ZL-A9V6-01A-11D-A428-09		1043091	58085892	18	2372											
ZNF714	148206	genome.wustl.edu	37	chr19	21301036	21301036	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggactaggtgagcagatCgcgaggtcaggagttcaaga	13	6	16	6	2	2	4	2	1	0	3	3	7	2	6	0	4	1	2	0	4	2	2			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr19:21301036C>A	ENST00000596143.1	+	5	1891	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	522					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.I522I(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						gtgagcagatcgcgaggtcag	0.468																																							0											1	Substitution - coding silent(1)	large_intestine(1)											39	41	40					19																	21301036		2191	4296	6487	SO:0001819	synonymous_variant	0			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1566C>A	19.37:g.21301036C>A			Q49AI1|Q86W65|Q8ND40	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I522	ENST00000596143.1	37	c.1566	CCDS54239.1	19																																																																																			0	NULL		0.468	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	protein_coding	OTTHUMT00000463930.1	12	0	0	0.00	0	0	C	NM_182515	0	0		21301036	1	no_errors	ENST00000596143	ensembl	human	known	74_37	silent	20	3	9.09	0.00	2	0	SNP	0.578	A	A	21301036	C	A	21301036	2	1	119	1	0	0	0	0	0	0	0	1	18115	874	31	5		5	ZNF714	19	21301036	Silent	SNP	C	TCGA-ZL-A9V6-01A-11D-A428-09	20257945	21301036	37827947	19	2373											
PRR12	57479	genome.wustl.edu	37	chr19	50098913	50098913	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggaggggcagggggcCaggcttattcccccggtcag	5	6	19	11	1	1	0	1	0	0	0	2	1	2	1	3	8	0	3	3	8	1	2			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chr19:50098913C>T	ENST00000418929.2	+	4	1333	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*		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)		GGCAGGGGGCCAGGCTTATTC	0.687																																							0											0													11	13	13					19																	50098913		1834	4028	5862	SO:0001587	stop_gained	0			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.1321C>T	19.37:g.50098913C>T	ENSP00000394510:p.Gln441*		E9PB06|Q8N4J6	Nonsense_Mutation	SNP	NULL	p.Q441*	ENST00000418929.2	37	c.1321	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.008635	0.97195	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.7712	0.69679	0.0:1.0:0.0:0.0	.	.	.	.	X	441	.	ENSP00000394510:Q441X	Q	+	1	0	PRR12	54790725	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.363000	0.59473	2.085000	0.62840	0.455000	0.32223	CAG	0	NULL		0.687	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	protein_coding	OTTHUMT00000465915.1	12	88	0	0.00	0	0	C	NM_020719	0	0		50098913	1	no_errors	ENST00000418929	ensembl	human	novel	74_37	nonsense	5	59	37.5	31.40	3	27	SNP	1	T	T	50098913	C	T	50098913	4	4	119	1	0	0	0	0	0	1	0	0	12584	595	21	3	1335	3	PRR12	19	50098913	Nonsense_Mutation	SNP	C	TCGA-ZL-A9V6-01A-11D-A428-09	28797877	50098913	9030070	20	2374											
NRK	203447	genome.wustl.edu	37	chrX	105156725	105156725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagccattgaagccatacaTttcaaatcctaaaaaaattg	18	10	5	8	0	1	2	1	1	0	1	2	2	2	2	3	0	3	0	3	0	7	5			TCGA-ZL-A9V6-01A-11D-A428-09	TCGA-ZL-A9V6-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	07912020-3e0d-4830-85eb-adb5d6ee4da6	adc4cfc4-4f4e-4f34-a036-d4d2de2ad4a0	g.chrX:105156725T>C	ENST00000243300.9	+	14	2630	c.2327T>C	c.(2326-2328)aTt>aCt	p.I776T	NRK_ENST00000428173.2_Missense_Mutation_p.I777T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	776					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						AAGCCATACATTTCAAATCCT	0.338										HNSCC(51;0.14)																													0											0													31	27	28					X																	105156725		1802	4046	5848	SO:0001583	missense	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2327T>C	X.37:g.105156725T>C	ENSP00000434830:p.Ile776Thr		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.I777T	ENST00000243300.9	37	c.2330		X	.	.	.	.	.	.	.	.	.	.	T	8.218	0.801939	0.16397	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79653	-1.28;-1.29	3.69	-0.119	0.13543	.	1.422290	0.04920	N	0.454840	T	0.64962	0.2646	N	0.24115	0.695	0.09310	N	1	B;B	0.32160	0.358;0.039	B;B	0.27500	0.08;0.012	T	0.55101	-0.8193	10	0.62326	D	0.03	.	2.1811	0.03875	0.2325:0.2772:0.0:0.4904	.	444;776	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	T	776;777	ENSP00000434830:I776T;ENSP00000438378:I777T	ENSP00000434830:I776T	I	+	2	0	NRK	105043381	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.151000	0.10175	-0.116000	0.11893	0.486000	0.48141	ATT	0	NULL		0.338	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	protein_coding	OTTHUMT00000106480.6	114	148	0	0.00	0	0	T	NM_198465	0	0		105156725	1	no_errors	ENST00000428173	ensembl	human	known	74_37	missense	77	94	29.36	24.80	32	31	SNP	0	C	C	105156725	T	C	105156725	3	2	119	1	0	0	0	0	1	0	0	0	10655	1493	52	3	2381	3	NRK	23	105156725	Missense_Mutation	SNP	T	TCGA-ZL-A9V6-01A-11D-A428-09		105156725	50113835	21	2375											
C1orf129	80133	genome.wustl.edu	37	chr1	170985470	170985470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctactgtactctgaTggatcatgtgagttacacag	10	13	9	9	0	2	2	1	2	1	0	3	3	3	3	1	1	4	3	1	1	3	4			TCGA-ZT-A8OM-01A-11D-A428-09	TCGA-ZT-A8OM-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0679e9b5-d798-4515-b290-39f2800eb027	0fe4d4c7-74a4-4caa-81c4-434984fd134a	g.chr1:170985470T>C	ENST00000367759.4	+	17	2055	c.1901T>C	c.(1900-1902)aTg>aCg	p.M634T		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0																	TGTACTCTGATGGATCATGTG	0.433																																							0											0													146	117	126					1																	170985470		692	1591	2283	SO:0001583	missense	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367759.4:c.1901T>C	1.37:g.170985470T>C	ENSP00000356733:p.Met634Thr		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M634T	ENST00000367759.4	37	c.1901	CCDS53429.1	1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.170374	0.38315	.	.	ENSG00000117501	ENST00000367759	T	0.66815	-0.23	5.4	5.4	0.78164	.	.	.	.	.	T	0.59418	0.2192	L	0.27053	0.805	0.27476	N	0.952727	D	0.67145	0.996	D	0.63793	0.918	T	0.59241	-0.7491	9	0.66056	D	0.02	.	12.106	0.53813	0.0:0.0:0.0:1.0	.	634	F5GWX6	.	T	634	ENSP00000356733:M634T	ENSP00000356733:M634T	M	+	2	0	C1orf129	169252094	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	3.545000	0.53648	2.167000	0.68274	0.528000	0.53228	ATG	0	superfamily_ARM-type_fold		0.433	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH9	protein_coding		43	217	0	0.00	0	0	T	NM_025063	0	0		170985470	1	no_errors	ENST00000367759	ensembl	human	known	74_37	missense	45	188	11.76	6.47	6	13	SNP	1	C	C	170985470	T	C	170985470	3	2	120	1	0	0	0	0	1	0	0	0	1996	1464	51	3	2089	3	C1orf129	1	170985470	Missense_Mutation	SNP	T	TCGA-ZT-A8OM-01A-11D-A428-09		170985470	78265151	1	2376											
TPR	7175	genome.wustl.edu	37	chr1	186313052	186313052	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttacctgagaatttccaaAatttgttcttgagattttcc	11	18	5	7	0	1	2	0	2	1	2	3	4	3	2	3	0	1	1	3	0	4	8			TCGA-ZT-A8OM-01A-11D-A428-09	TCGA-ZT-A8OM-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0679e9b5-d798-4515-b290-39f2800eb027	0fe4d4c7-74a4-4caa-81c4-434984fd134a	g.chr1:186313052A>T	ENST00000367478.4	-	26	3884	c.3588T>A	c.(3586-3588)atT>atA	p.I1196I		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1196					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)		GAATTTCCAAAATTTGTTCTT	0.338			T	NTRK1	papillary thyroid																																		0		Dom	yes		1	1q25	7175	translocated promoter region		E	0													73	65	67					1																	186313052		1834	4085	5919	SO:0001819	synonymous_variant	0			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.3588T>A	1.37:g.186313052A>T			Q15655|Q5SWY0|Q99968	Silent	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.I1196	ENST00000367478.4	37	c.3588	CCDS41446.1	1																																																																																			0	NULL		0.338	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	protein_coding	OTTHUMT00000086353.2	67	232	0	0.00	0	0	A	NM_003292	0	0		186313052	-1	no_errors	ENST00000367478	ensembl	human	known	74_37	silent	78	267	11.24	6.97	10	20	SNP	0.507	T	T	186313052	A	T	186313052	2	4	120	1	0	0	0	0	0	0	0	1	16413	10	1	5		5	TPR	1	186313052	Silent	SNP	A	TCGA-ZT-A8OM-01A-11D-A428-09	15327582	186313052	62937569	2	2377											
NR1D2	9975	genome.wustl.edu	37	chr3	24018736	24018736	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctggaatagaaaacgtCaactctgtggaggctttgca	12	10	11	8	2	3	1	1	0	2	1	3	4	3	3	0	3	3	2	0	3	5	2			TCGA-ZT-A8OM-01A-11D-A428-09	TCGA-ZT-A8OM-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0679e9b5-d798-4515-b290-39f2800eb027	0fe4d4c7-74a4-4caa-81c4-434984fd134a	g.chr3:24018736C>A	ENST00000312521.4	+	8	1885	c.1566C>A	c.(1564-1566)gtC>gtA	p.V522V	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	522	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)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TAGAAAACGTCAACTCTGTGG	0.338																																							0											0													62	65	64					3																	24018736		2203	4300	6503	SO:0001819	synonymous_variant	0			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.1566C>A	3.37:g.24018736C>A			B2R8Q3|O00402|Q86XD4	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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.V522	ENST00000312521.4	37	c.1566	CCDS33718.1	3																																																																																			0	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.338	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	protein_coding	OTTHUMT00000341017.3	72	227	0	0.44	0	1	C		0	0		24018736	1	no_errors	ENST00000312521	ensembl	human	known	74_37	silent	114	221	8.8	7.53	11	18	SNP	1	A	A	24018736	C	A	24018736	2	1	120	1	0	0	0	0	0	0	0	1	10616	813	29	5		5	NR1D2	3	24018736	Silent	SNP	C	TCGA-ZT-A8OM-01A-11D-A428-09		24018736	174003694	3	2378											
BFSP2	8419	genome.wustl.edu	37	chr3	133191216	133191216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggagaacaccttgcacGatgccaagcactggcatgac	11	6	11	13	1	0	2	0	1	0	1	0	4	0	2	3	2	4	3	3	2	2	1			TCGA-ZT-A8OM-01A-11D-A428-09	TCGA-ZT-A8OM-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0679e9b5-d798-4515-b290-39f2800eb027	0fe4d4c7-74a4-4caa-81c4-434984fd134a	g.chr3:133191216G>A	ENST00000302334.2	+	6	1140	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	351	Rod.				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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CACCTTGCACGATGCCAAGCA	0.627																																							0											0													30	32	32					3																	133191216		2203	4300	6503	SO:0001583	missense	0			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.1051G>A	3.37:g.133191216G>A	ENSP00000304987:p.Asp351Asn		Q14D32|Q9HBW5	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.D351N	ENST00000302334.2	37	c.1051	CCDS33859.1	3	.	.	.	.	.	.	.	.	.	.	g	35	5.474835	0.96291	.	.	ENSG00000170819	ENST00000302334	D	0.90261	-2.64	5.13	5.13	0.70059	Filament (1);	0.000000	0.56097	D	0.000022	D	0.94853	0.8337	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95334	0.8432	10	0.87932	D	0	-30.7727	18.605	0.91263	0.0:0.0:1.0:0.0	.	351	Q13515	BFSP2_HUMAN	N	351	ENSP00000304987:D351N	ENSP00000304987:D351N	D	+	1	0	BFSP2	134673906	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	7.417000	0.80156	2.390000	0.81377	0.556000	0.70494	GAT	0	pfam_IF		0.627	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP2	protein_coding	OTTHUMT00000357031.1	47	89	0	0.00	0	0	G		0	0		133191216	1	no_errors	ENST00000302334	ensembl	human	known	74_37	missense	61	76	7.58	11.49	5	10	SNP	1	A	A	133191216	G	A	133191216	3	1	120	1	0	0	0	0	1	0	0	0	1416	1058	37	2	1073	2	BFSP2	3	133191216	Missense_Mutation	SNP	G	TCGA-ZT-A8OM-01A-11D-A428-09	109172480	133191216	64831214	4	2379											
MME	4311	genome.wustl.edu	37	chr3	154832820	154832820	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggatgccaccactgaGccttgtacagactttttcaa	12	11	7	11	0	1	2	1	1	0	1	1	3	1	3	3	1	4	1	3	1	3	4	rs201425951		TCGA-ZT-A8OM-01A-11D-A428-09	TCGA-ZT-A8OM-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0679e9b5-d798-4515-b290-39f2800eb027	0fe4d4c7-74a4-4caa-81c4-434984fd134a	g.chr3:154832820G>A	ENST00000460393.1	+	4	354	c.234G>A	c.(232-234)gaG>gaA	p.E78E	MME_ENST00000492661.1_Silent_p.E78E|MME_ENST00000493237.1_Silent_p.E78E|MME_ENST00000477669.1_3'UTR|MME_ENST00000360490.2_Silent_p.E78E|MME_ENST00000462745.1_Silent_p.E78E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	78					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)	CCACCACTGAGCCTTGTACAG	0.433																																							0											0													120	115	117					3																	154832820		2203	4300	6503	SO:0001819	synonymous_variant	0				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.234G>A	3.37:g.154832820G>A			A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E78	ENST00000460393.1	37	c.234	CCDS3172.1	3																																																																																			0	NULL		0.433	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	protein_coding	OTTHUMT00000351076.1	48	175	0	0.00	0	0	G	NM_000902	rs201425951	G->A,C		154832820	1	no_errors	ENST00000360490	ensembl	human	known	74_37	silent	75	133	12.79	6.34	11	9	SNP	0.911	A	A	154832820	G	A	154832820	2	1	120	1	0	0	0	0	0	0	0	1	9645	962	34	3		3	MME	3	154832820	Silent	SNP	G	TCGA-ZT-A8OM-01A-11D-A428-09	21641604	154832820	43189610	5	2380											
MAML2	84441	genome.wustl.edu	37	chr11	95825372	95825374	+	In_Frame_Del	DEL	TGT	TGT	-																															gctgttgctgctgctgctgcTgttgctgctgctgctgctgc																								rs60727839|rs543548810|rs112603485|rs141671766	byFrequency	TCGA-ZT-A8OM-01A-11D-A428-09	TCGA-ZT-A8OM-10A-01D-A42B-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0679e9b5-d798-4515-b290-39f2800eb027	0fe4d4c7-74a4-4caa-81c4-434984fd134a	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																																		0		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001651	inframe_deletion	0			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		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																																																																																			0	NULL		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	protein_coding	OTTHUMT00000395540.1	35	2	2.78	0.00	1	0	TGT		0	0		95825374	-1	no_errors	ENST00000524717	ensembl	human	known	74_37	in_frame_del	27	8	15.62	0.00	5	0	DEL	0.003:0.003:0.003	0	-	95825374	TGT	-	95825372	7	5	120	1	0	1	0	1	0	0	0	0	9206	1580	55	0	1663	0	MAML2	11	95825372	In_Frame_Del	DEL	TGT	TCGA-ZT-A8OM-01A-11D-A428-09		95825372	39181144	6	2381											
STAT6	6778	genome.wustl.edu	37	chr12	57499106	57499106	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacctgggggggctgctTctccaccaggaagcaactgg	8	7	14	12	0	1	0	0	0	1	0	2	1	1	1	3	5	4	4	3	5	3	2			TCGA-ZT-A8OM-01A-11D-A428-09	TCGA-ZT-A8OM-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0679e9b5-d798-4515-b290-39f2800eb027	0fe4d4c7-74a4-4caa-81c4-434984fd134a	g.chr12:57499106T>G	ENST00000300134.3	-	9	1154	c.829A>C	c.(829-831)Aag>Cag	p.K277Q	STAT6_ENST00000454075.3_Missense_Mutation_p.K277Q|STAT6_ENST00000556155.1_Missense_Mutation_p.K277Q|STAT6_ENST00000538913.2_Missense_Mutation_p.K167Q|STAT6_ENST00000537215.2_Missense_Mutation_p.K167Q|STAT6_ENST00000543873.2_Missense_Mutation_p.K277Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	277					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|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)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGGGGCTGCTTCTCCACCAGG	0.612																																							0											0													33	37	36					12																	57499106		2203	4300	6503	SO:0001583	missense	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.829A>C	12.37:g.57499106T>G	ENSP00000300134:p.Lys277Gln		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	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,smart_SH2,pfscan_SH2	p.K277Q	ENST00000300134.3	37	c.829	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324981	0.81580	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	4.64	4.64	0.57946	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	0.93429	0.7904	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93959	0.7239	10	0.87932	D	0	-22.8734	12.063	0.53572	0.0:0.0:0.0:1.0	.	277;277	A8K4S9;P42226	.;STAT6_HUMAN	Q	277;167;167;277;277;167;277;167;277	ENSP00000300134:K277Q;ENSP00000445409:K167Q;ENSP00000438451:K277Q;ENSP00000451742:K277Q;ENSP00000444530:K167Q;ENSP00000401486:K277Q	ENSP00000300134:K277Q	K	-	1	0	STAT6	55785373	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.704000	0.84595	1.947000	0.56498	0.459000	0.35465	AAG	0	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.612	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	protein_coding	OTTHUMT00000412248.3	44	86	0	0.00	0	0	T	NM_003153	0	0		57499106	-1	no_errors	ENST00000300134	ensembl	human	known	74_37	missense	65	70	13.33	9.09	10	7	SNP	1	G	G	57499106	T	G	57499106	3	3	120	1	0	0	0	0	1	0	0	0	15269	1792	62	5	1770	5	STAT6	12	57499106	Missense_Mutation	SNP	T	TCGA-ZT-A8OM-01A-11D-A428-09		57499106	76352789	7	2382											
RPL23A	6147	genome.wustl.edu	37	chr17	27049790	27049790	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaccactgagtctgccAtgaagaagatagaagacaac	15	6	10	10	1	1	7	0	3	1	4	1	7	1	7	2	0	2	1	2	0	5	1			TCGA-ZT-A8OM-01A-11D-A428-09	TCGA-ZT-A8OM-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0679e9b5-d798-4515-b290-39f2800eb027	0fe4d4c7-74a4-4caa-81c4-434984fd134a	g.chr17:27049790A>G	ENST00000422514.2	+	3	872	c.259A>G	c.(259-261)Atg>Gtg	p.M87V	SNORD42A_ENST00000459584.1_RNA|RPL23A_ENST00000472628.1_Start_Codon_SNP_p.M1V|SNORD42B_ENST00000458893.1_RNA|RPL23A_ENST00000394938.4_Missense_Mutation_p.M125V|SNORD4B_ENST00000459083.1_RNA|SNORD4A_ENST00000459174.1_RNA|AC010761.8_ENST00000582718.1_RNA|RPL23A_ENST00000496182.1_Start_Codon_SNP_p.M1V	NM_000984.5	NP_000975.2	P62750	RL23A_HUMAN	ribosomal protein L23a	87					cell proliferation (GO:0008283)|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)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(3)|ovary(1)	5	Lung NSC(42;0.00431)					TGAGTCTGCCATGAAGAAGAT	0.473																																							0											0													55	55	55					17																	27049790		2203	4297	6500	SO:0001583	missense	0			U43701	CCDS11241.1	17q11.2	2011-04-06			ENSG00000198242	ENSG00000198242		"L ribosomal proteins"	10317	protein-coding gene	gene with protein product		602326				9417910	Standard	NM_000984		Approved	L23A	uc002hci.3	P62750	OTTHUMG00000132684	ENST00000422514.2:c.259A>G	17.37:g.27049790A>G	ENSP00000389103:p.Met87Val		B2R5B2|P29316|P39024|Q92774	Missense_Mutation	SNP	pfam_Ribosomal_L23/L25_N,pfam_Ribosomal_L25/23,superfamily_Ribosomal_L23/L15e_core_dom,tigrfam_Ribosomal_L23	p.M87V	ENST00000422514.2	37	c.259	CCDS11241.1	17	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701227	0.68501	.	.	ENSG00000198242	ENST00000422514;ENST00000394938;ENST00000394935	T;T	0.42131	0.98;0.98	5.27	5.27	0.74061	Ribosomal protein L23/L15e (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.42964	U	0.000625	T	0.48295	0.1492	M	0.77486	2.375	0.80722	D	1	B	0.33583	0.418	B	0.35550	0.205	T	0.54193	-0.8330	10	0.59425	D	0.04	0.0047	14.7149	0.69259	1.0:0.0:0.0:0.0	.	87	P62750	RL23A_HUMAN	V	87;125;89	ENSP00000389103:M87V;ENSP00000378396:M125V	ENSP00000378393:M89V	M	+	1	0	RPL23A	24073917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.066000	0.71185	2.127000	0.65507	0.524000	0.50904	ATG	0	pfam_Ribosomal_L25/23,superfamily_Ribosomal_L23/L15e_core_dom,tigrfam_Ribosomal_L23		0.473	RPL23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL23A	protein_coding	OTTHUMT00000255975.1	46	0	0	0.00	0	0	A	NM_000984	0	0		27049790	1	no_errors	ENST00000422514	ensembl	human	known	74_37	missense	50	0	7.41	0.00	4	0	SNP	1	G	G	27049790	A	G	27049790	3	3	120	1	0	0	0	0	1	0	0	0	13571	217	8	3	269	3	RPL23A	17	27049790	Missense_Mutation	SNP	A	TCGA-ZT-A8OM-01A-11D-A428-09		27049790	54145420	8	2383											
NF1	4763	genome.wustl.edu	37	chr17	29683580	29683580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaaatgaggagagtagCagaaactgattatgaaatgg	17	7	11	6	0	0	5	0	3	0	2	0	6	0	5	2	2	2	2	2	2	6	2			TCGA-ZT-A8OM-01A-11D-A428-09	TCGA-ZT-A8OM-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0679e9b5-d798-4515-b290-39f2800eb027	0fe4d4c7-74a4-4caa-81c4-434984fd134a	g.chr17:29683580C>G	ENST00000358273.4	+	52	8101	c.7718C>G	c.(7717-7719)gCa>gGa	p.A2573G	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.A366G|NF1_ENST00000356175.3_Missense_Mutation_p.A2552G	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2573					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)		AGGAGAGTAGCAGAAACTGAT	0.378			"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)																													0	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)											89	76	80					17																	29683580		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7718C>G	17.37:g.29683580C>G	ENSP00000351015:p.Ala2573Gly		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.A2573G	ENST00000358273.4	37	c.7718	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614864	0.66672	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.48836	3.13;3.29;2.97;0.8	5.66	5.66	0.87406	Armadillo-type fold (1);	0.049987	0.85682	D	0.000000	T	0.45397	0.1340	L	0.40543	1.245	0.80722	D	1	B;B;B	0.33612	0.419;0.229;0.0	B;B;B	0.35278	0.143;0.199;0.002	T	0.29941	-0.9995	10	0.38643	T	0.18	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	366;2552;2573	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	G	2573;2552;2218;366	ENSP00000351015:A2573G;ENSP00000348498:A2552G;ENSP00000389907:A2218G;ENSP00000396481:A366G	ENSP00000348498:A2552G	A	+	2	0	NF1	26707706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.115000	0.77110	2.832000	0.97577	0.655000	0.94253	GCA	0	superfamily_ARM-type_fold		0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	59	268	0	0.37	0	1	C	NM_000267	0	0		29683580	1	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	79	241	7.06	9.74	6	26	SNP	1	G	G	29683580	C	G	29683580	3	3	120	1	0	0	0	0	1	0	0	0	10356	710	25	5	7985	5	NF1	17	29683580	Missense_Mutation	SNP	C	TCGA-ZT-A8OM-01A-11D-A428-09	2633790	29683580	51511630	9	2384											
ZNF645	158506	genome.wustl.edu	37	chrX	22291397	22291397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaagtatgtccgcgctgtCgttatcctgtgctgagaatt	9	14	10	8	3	0	1	0	1	0	1	3	2	2	1	2	0	1	4	2	0	5	4			TCGA-ZT-A8OM-01A-11D-A428-09	TCGA-ZT-A8OM-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0679e9b5-d798-4515-b290-39f2800eb027	0fe4d4c7-74a4-4caa-81c4-434984fd134a	g.chrX:22291397C>T	ENST00000323684.1	+	1	333	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	97	HYB domain.				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						TCCGCGCTGTCGTTATCCTGT	0.398																																							0											0													80	68	72					X																	22291397		2203	4300	6503	SO:0001583	missense	0			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.289C>T	X.37:g.22291397C>T	ENSP00000323348:p.Arg97Cys		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	pfscan_Znf_RING,pfscan_Znf_C2H2	p.R97C	ENST00000323684.1	37	c.289	CCDS14205.1	X	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390926	0.25118	.	.	ENSG00000175809	ENST00000323684	T	0.32988	1.43	3.27	-5.15	0.02866	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.446073	0.22889	U	0.054412	T	0.12178	0.0296	N	0.14661	0.345	0.09310	N	1	P	0.49358	0.923	B	0.38712	0.28	T	0.27905	-1.0060	10	0.59425	D	0.04	.	7.1993	0.25871	0.3607:0.1434:0.4959:0.0	.	97	Q8N7E2	ZN645_HUMAN	C	97	ENSP00000323348:R97C	ENSP00000323348:R97C	R	+	1	0	ZNF645	22201318	0.968000	0.33430	0.000000	0.03702	0.028000	0.11728	0.302000	0.19192	-1.443000	0.01953	-0.576000	0.04144	CGT	0	pfscan_Znf_RING		0.398	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF645	protein_coding	OTTHUMT00000056037.1	29	184	0	0.00	0	0	C	NM_152577	0	0		22291397	1	no_errors	ENST00000323684	ensembl	human	known	74_37	missense	55	164	8.33	6.78	5	12	SNP	0.051	T	T	22291397	C	T	22291397	3	4	120	1	0	0	0	0	1	0	0	0	18058	884	31	2	291	2	ZNF645	23	22291397	Missense_Mutation	SNP	C	TCGA-ZT-A8OM-01A-11D-A428-09		22291397	132979163	10	2385											
