#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ATE1	11101	genome.wustl.edu	37	10	123549742	123549742	+	Silent	SNP	T	T	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr10:123549742T>C	ENST00000224652.6	-	11	1405	c.1320A>G	c.(1318-1320)caA>caG	p.Q440Q	ATE1_ENST00000369043.3_Silent_p.Q440Q|ATE1_ENST00000543447.1_Silent_p.Q325Q|ATE1_ENST00000540606.1_Silent_p.Q433Q|ATE1_ENST00000535655.1_Silent_p.Q141Q|ATE1_ENST00000369040.3_Silent_p.Q344Q	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	440					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AAGGCAGGCATTGCTCAATGG	0.458																																						dbGAP											0													122.0	114.0	117.0					10																	123549742		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1320A>G	10.37:g.123549742T>C			O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk	p.M437V	ENST00000224652.6	37	c.1309	CCDS31300.1	10	.	.	.	.	.	.	.	.	.	.	T	9.817	1.184707	0.21870	.	.	ENSG00000107669	ENST00000423243	.	.	.	5.67	1.68	0.24146	.	.	.	.	.	T	0.58235	0.2108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50215	-0.8854	4	.	.	.	-20.7053	9.9759	0.41783	0.0:0.5878:0.0:0.4122	.	.	.	.	V	437	.	.	M	-	1	0	ATE1	123539732	0.839000	0.29477	0.998000	0.56505	0.927000	0.56198	-0.044000	0.12023	0.044000	0.15775	-0.366000	0.07423	ATG	ATE1	-	pirsf_Arg-tRNA-P_Trfase_1_euk	ENSG00000107669		0.458	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATE1	HGNC	protein_coding		168	0.00	0	T	NM_001001976		123549742	123549742	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000423243	ensembl	human	known	69_37n	missense	136	14.47	23	SNP	1.000	C
ATE1	11101	genome.wustl.edu	37	10	123549742	123549742	+	Silent	SNP	T	T	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr10:123549742T>C	ENST00000224652.6	-	11	1405	c.1320A>G	c.(1318-1320)caA>caG	p.Q440Q	ATE1_ENST00000369043.3_Silent_p.Q440Q|ATE1_ENST00000543447.1_Silent_p.Q325Q|ATE1_ENST00000540606.1_Silent_p.Q433Q|ATE1_ENST00000535655.1_Silent_p.Q141Q|ATE1_ENST00000369040.3_Silent_p.Q344Q	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	440					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AAGGCAGGCATTGCTCAATGG	0.458																																						dbGAP											0													122.0	114.0	117.0					10																	123549742		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1320A>G	10.37:g.123549742T>C			O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk	p.M437V	ENST00000224652.6	37	c.1309	CCDS31300.1	10	.	.	.	.	.	.	.	.	.	.	T	9.817	1.184707	0.21870	.	.	ENSG00000107669	ENST00000423243	.	.	.	5.67	1.68	0.24146	.	.	.	.	.	T	0.58235	0.2108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50215	-0.8854	4	.	.	.	-20.7053	9.9759	0.41783	0.0:0.5878:0.0:0.4122	.	.	.	.	V	437	.	.	M	-	1	0	ATE1	123539732	0.839000	0.29477	0.998000	0.56505	0.927000	0.56198	-0.044000	0.12023	0.044000	0.15775	-0.366000	0.07423	ATG	ATE1	-	pirsf_Arg-tRNA-P_Trfase_1_euk	ENSG00000107669		0.458	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATE1	HGNC	protein_coding		198	0.00	0	T	NM_001001976		123549742	123549742	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000423243	ensembl	human	known	69_37n	missense	136	14.47	23	SNP	1.000	C
ATP2C2	9914	genome.wustl.edu	37	16	84497267	84497267	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr16:84497267G>A	ENST00000262429.4	+	27	2859	c.2770G>A	c.(2770-2772)Gag>Aag	p.E924K	ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Missense_Mutation_p.E953K	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	924					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						CATTTTGTCAGAGCTCCTCAA	0.498																																						dbGAP											0													111.0	117.0	115.0					16																	84497267		1930	4133	6063	-	-	-	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.2770G>A	16.37:g.84497267G>A	ENSP00000262429:p.Glu924Lys		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.E924K	ENST00000262429.4	37	c.2770	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879733	0.72294	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.97480	-4.4;-4.4	5.25	5.25	0.73442	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000007	D	0.98720	0.9570	M	0.90309	3.105	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;1.0;0.996;0.998	D	0.99797	1.1034	10	0.87932	D	0	.	17.8246	0.88661	0.0:0.0:1.0:0.0	.	953;773;773;941;924	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	K	953;924;773	ENSP00000397925:E953K;ENSP00000262429:E924K	ENSP00000262429:E924K	E	+	1	0	ATP2C2	83054768	1.000000	0.71417	0.971000	0.41717	0.143000	0.21401	7.924000	0.87555	2.460000	0.83146	0.655000	0.94253	GAG	ATP2C2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000064270		0.498	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	86	0.00	0	G	NM_014861		84497267	84497267	+1	no_errors	ENST00000262429	ensembl	human	known	69_37n	missense	72	46.72	64	SNP	0.999	A
CFAP53	220136	genome.wustl.edu	37	18	47777321	47777321	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr18:47777321T>C	ENST00000398545.4	-	5	920	c.803A>G	c.(802-804)cAt>cGt	p.H268R		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTCATTCTCATGTTTAATCTG	0.373																																						dbGAP											0													288.0	258.0	267.0					18																	47777321		1904	4110	6014	-	-	-	SO:0001583	missense	0																														ENST00000398545.4:c.803A>G	18.37:g.47777321T>C	ENSP00000381553:p.His268Arg			Missense_Mutation	SNP	NULL	p.H268R	ENST00000398545.4	37	c.803	CCDS11940.2	18	.	.	.	.	.	.	.	.	.	.	T	6.981	0.551136	0.13374	.	.	ENSG00000172361	ENST00000398545	T	0.08807	3.05	5.81	0.171	0.15026	.	0.572133	0.18211	N	0.148182	T	0.02418	0.0074	N	0.02011	-0.69	0.20403	N	0.99991	B	0.02656	0.0	B	0.04013	0.001	T	0.46816	-0.9164	10	0.16420	T	0.52	2.2412	6.1207	0.20151	0.4739:0.2657:0.0:0.2604	.	268	Q96M91	CCD11_HUMAN	R	268	ENSP00000381553:H268R	ENSP00000381553:H268R	H	-	2	0	CCDC11	46031319	0.999000	0.42202	0.827000	0.32855	0.116000	0.19942	1.389000	0.34453	0.082000	0.17018	-0.339000	0.08088	CAT	CCDC11	-	NULL	ENSG00000172361		0.373	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255922.3	623	0.00	0	T			47777321	47777321	-1	no_errors	ENST00000398545	ensembl	human	known	69_37n	missense	417	25.00	140	SNP	0.896	C
CFAP53	220136	genome.wustl.edu	37	18	47777321	47777321	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr18:47777321T>C	ENST00000398545.4	-	5	920	c.803A>G	c.(802-804)cAt>cGt	p.H268R		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTCATTCTCATGTTTAATCTG	0.373																																						dbGAP											0													288.0	258.0	267.0					18																	47777321		1904	4110	6014	-	-	-	SO:0001583	missense	0																														ENST00000398545.4:c.803A>G	18.37:g.47777321T>C	ENSP00000381553:p.His268Arg			Missense_Mutation	SNP	NULL	p.H268R	ENST00000398545.4	37	c.803	CCDS11940.2	18	.	.	.	.	.	.	.	.	.	.	T	6.981	0.551136	0.13374	.	.	ENSG00000172361	ENST00000398545	T	0.08807	3.05	5.81	0.171	0.15026	.	0.572133	0.18211	N	0.148182	T	0.02418	0.0074	N	0.02011	-0.69	0.20403	N	0.99991	B	0.02656	0.0	B	0.04013	0.001	T	0.46816	-0.9164	10	0.16420	T	0.52	2.2412	6.1207	0.20151	0.4739:0.2657:0.0:0.2604	.	268	Q96M91	CCD11_HUMAN	R	268	ENSP00000381553:H268R	ENSP00000381553:H268R	H	-	2	0	CCDC11	46031319	0.999000	0.42202	0.827000	0.32855	0.116000	0.19942	1.389000	0.34453	0.082000	0.17018	-0.339000	0.08088	CAT	CCDC11	-	NULL	ENSG00000172361		0.373	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255922.3	489	0.00	0	T			47777321	47777321	-1	no_errors	ENST00000398545	ensembl	human	known	69_37n	missense	417	25.00	140	SNP	0.896	C
CEL	1056	genome.wustl.edu	37	9	135941981	135941982	+	Frame_Shift_Ins	INS	-	-	G	rs562193996|rs370279406		TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr9:135941981_135941982insG	ENST00000372080.4	+	5	628_629	c.612_613insG	c.(613-615)gggfs	p.G205fs	CEL_ENST00000351304.7_Frame_Shift_Ins_p.G202fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	202					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCGCGGCCTTCGGGGGGGACCC	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.619dupG	9.37:g.135941988_135941988dupG	ENSP00000361151:p.Gly205fs		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Ins	INS	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.D206fs	ENST00000372080.4	37	c.612_613	CCDS43896.1	9																																																																																			CEL	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000170835		0.639	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	18	0.00	0	-			135941981	135941982	+1	no_errors	ENST00000372080	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	0.798:1.000	G
CEL	1056	genome.wustl.edu	37	9	135941981	135941982	+	Frame_Shift_Ins	INS	-	-	G	rs562193996|rs370279406		TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr9:135941981_135941982insG	ENST00000372080.4	+	5	628_629	c.612_613insG	c.(613-615)gggfs	p.G205fs	CEL_ENST00000351304.7_Frame_Shift_Ins_p.G202fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	202					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCGCGGCCTTCGGGGGGGACCC	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.619dupG	9.37:g.135941988_135941988dupG	ENSP00000361151:p.Gly205fs		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Ins	INS	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.D206fs	ENST00000372080.4	37	c.612_613	CCDS43896.1	9																																																																																			CEL	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000170835		0.639	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	35	0.00	0	-			135941981	135941982	+1	no_errors	ENST00000372080	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	0.798:1.000	G
CLRN2	645104	genome.wustl.edu	37	4	17517100	17517100	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr4:17517100G>A	ENST00000511148.2	+	1	313	c.211G>A	c.(211-213)Gtg>Atg	p.V71M		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	71						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGGGTGTAAAGTGCGGCAGTG	0.493																																						dbGAP											0													66.0	65.0	66.0					4																	17517100		1913	4119	6032	-	-	-	SO:0001583	missense	0				CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.211G>A	4.37:g.17517100G>A	ENSP00000424711:p.Val71Met			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.V71M	ENST00000511148.2	37	c.211	CCDS47032.1	4	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269906	0.40095	.	.	ENSG00000249581	ENST00000511148	T	0.81247	-1.47	5.42	5.42	0.78866	.	0.137643	0.49305	D	0.000158	T	0.74861	0.3772	L	0.50333	1.59	0.34713	D	0.72798	B	0.33345	0.409	B	0.33620	0.167	T	0.80804	-0.1219	10	0.46703	T	0.11	-24.0805	10.7204	0.46036	0.1219:0.0:0.8781:0.0	.	71	A0PK11	CLRN2_HUMAN	M	71	ENSP00000424711:V71M	ENSP00000424711:V71M	V	+	1	0	CLRN2	17126198	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.836000	0.48183	2.552000	0.86080	0.561000	0.74099	GTG	CLRN2	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000249581		0.493	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN2	HGNC	protein_coding	OTTHUMT00000359990.2	67	0.00	0	G	NM_001079827		17517100	17517100	+1	no_errors	ENST00000511148	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	1.000	A
CLRN2	645104	genome.wustl.edu	37	4	17517100	17517100	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr4:17517100G>A	ENST00000511148.2	+	1	313	c.211G>A	c.(211-213)Gtg>Atg	p.V71M		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	71						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGGGTGTAAAGTGCGGCAGTG	0.493																																						dbGAP											0													66.0	65.0	66.0					4																	17517100		1913	4119	6032	-	-	-	SO:0001583	missense	0				CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.211G>A	4.37:g.17517100G>A	ENSP00000424711:p.Val71Met			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.V71M	ENST00000511148.2	37	c.211	CCDS47032.1	4	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269906	0.40095	.	.	ENSG00000249581	ENST00000511148	T	0.81247	-1.47	5.42	5.42	0.78866	.	0.137643	0.49305	D	0.000158	T	0.74861	0.3772	L	0.50333	1.59	0.34713	D	0.72798	B	0.33345	0.409	B	0.33620	0.167	T	0.80804	-0.1219	10	0.46703	T	0.11	-24.0805	10.7204	0.46036	0.1219:0.0:0.8781:0.0	.	71	A0PK11	CLRN2_HUMAN	M	71	ENSP00000424711:V71M	ENSP00000424711:V71M	V	+	1	0	CLRN2	17126198	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.836000	0.48183	2.552000	0.86080	0.561000	0.74099	GTG	CLRN2	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000249581		0.493	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN2	HGNC	protein_coding	OTTHUMT00000359990.2	12	0.00	0	G	NM_001079827		17517100	17517100	+1	no_errors	ENST00000511148	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	1.000	A
DCLK1	9201	genome.wustl.edu	37	13	36700119	36700119	+	Silent	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr13:36700119G>A	ENST00000360631.3	-	2	367	c.156C>T	c.(154-156)tcC>tcT	p.S52S	DCLK1_ENST00000255448.4_Silent_p.S52S|DCLK1_ENST00000379892.4_Silent_p.S52S			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	52					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCTTCTTCTCGGAGCTGAGCG	0.582																																						dbGAP											0													81.0	74.0	77.0					13																	36700119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.156C>T	13.37:g.36700119G>A			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.S52	ENST00000360631.3	37	c.156		13																																																																																			DCLK1	-	superfamily_Doublecortin_dom,smart_Doublecortin_dom	ENSG00000133083		0.582	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	86	0.00	0	G	NM_004734		36700119	36700119	-1	no_errors	ENST00000360631	ensembl	human	known	69_37n	silent	38	13.64	6	SNP	0.889	A
DCLK1	9201	genome.wustl.edu	37	13	36700119	36700119	+	Silent	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr13:36700119G>A	ENST00000360631.3	-	2	367	c.156C>T	c.(154-156)tcC>tcT	p.S52S	DCLK1_ENST00000255448.4_Silent_p.S52S|DCLK1_ENST00000379892.4_Silent_p.S52S			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	52					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCTTCTTCTCGGAGCTGAGCG	0.582																																						dbGAP											0													81.0	74.0	77.0					13																	36700119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.156C>T	13.37:g.36700119G>A			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.S52	ENST00000360631.3	37	c.156		13																																																																																			DCLK1	-	superfamily_Doublecortin_dom,smart_Doublecortin_dom	ENSG00000133083		0.582	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	72	0.00	0	G	NM_004734		36700119	36700119	-1	no_errors	ENST00000360631	ensembl	human	known	69_37n	silent	38	13.64	6	SNP	0.889	A
EBF2	64641	genome.wustl.edu	37	8	25897605	25897605	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr8:25897605C>T	ENST00000520164.1	-	5	958	c.421G>A	c.(421-423)Gag>Aag	p.E141K	EBF2_ENST00000408929.3_5'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	141					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTCTGTCCCTCGTAAGCGATG	0.552																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	dbGAP											0													128.0	128.0	128.0					8																	25897605		1942	4140	6082	-	-	-	SO:0001583	missense	0			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.421G>A	8.37:g.25897605C>T	ENSP00000430241:p.Glu141Lys		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.E141K	ENST00000520164.1	37	c.421	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.497260	0.96355	.	.	ENSG00000221818	ENST00000520164	T	0.63744	-0.06	5.5	5.5	0.81552	.	0.000000	0.85682	U	0.000000	D	0.82898	0.5137	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85641	0.1276	10	0.87932	D	0	-13.6841	19.4023	0.94635	0.0:1.0:0.0:0.0	.	141	Q9HAK2	COE2_HUMAN	K	141	ENSP00000430241:E141K	ENSP00000430241:E141K	E	-	1	0	EBF2	25953522	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.724000	0.84798	2.573000	0.86826	0.655000	0.94253	GAG	EBF2	-	NULL	ENSG00000221818		0.552	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	69	0.00	0	C	NM_022659		25897605	25897605	-1	no_errors	ENST00000520164	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	1.000	T
EBF2	64641	genome.wustl.edu	37	8	25897605	25897605	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr8:25897605C>T	ENST00000520164.1	-	5	958	c.421G>A	c.(421-423)Gag>Aag	p.E141K	EBF2_ENST00000408929.3_5'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	141					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTCTGTCCCTCGTAAGCGATG	0.552																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	dbGAP											0													128.0	128.0	128.0					8																	25897605		1942	4140	6082	-	-	-	SO:0001583	missense	0			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.421G>A	8.37:g.25897605C>T	ENSP00000430241:p.Glu141Lys		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.E141K	ENST00000520164.1	37	c.421	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.497260	0.96355	.	.	ENSG00000221818	ENST00000520164	T	0.63744	-0.06	5.5	5.5	0.81552	.	0.000000	0.85682	U	0.000000	D	0.82898	0.5137	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85641	0.1276	10	0.87932	D	0	-13.6841	19.4023	0.94635	0.0:1.0:0.0:0.0	.	141	Q9HAK2	COE2_HUMAN	K	141	ENSP00000430241:E141K	ENSP00000430241:E141K	E	-	1	0	EBF2	25953522	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.724000	0.84798	2.573000	0.86826	0.655000	0.94253	GAG	EBF2	-	NULL	ENSG00000221818		0.552	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	88	0.00	0	C	NM_022659		25897605	25897605	-1	no_errors	ENST00000520164	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	1.000	T
EIF4G3	8672	genome.wustl.edu	37	1	21306904	21306905	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr1:21306904_21306905insG	ENST00000264211.8	-	4	441_442	c.247_248insC	c.(247-249)caafs	p.Q83fs	EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.Q90fs|EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.Q83fs|EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.Q94fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.Q83fs|EIF4G3_ENST00000602326.1_Frame_Shift_Ins_p.Q90fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.Q83fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	83					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)		TGGATATTGTTGGGGGGGCCCA	0.441																																						dbGAP											0																																										-	-	-	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.248dupC	1.37:g.21306911_21306911dupG	ENSP00000264211:p.Gln83fs		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Ins	INS	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.269_268	CCDS214.1	1																																																																																			EIF4G3	-	NULL	ENSG00000075151		0.441	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	21	0.00	0	-	NM_003760		21306904	21306905	-1	no_errors	ENST00000374937	ensembl	human	known	69_37n	frame_shift_ins	51	12.07	7	INS	1.000:1.000	G
ERICH1	157697	genome.wustl.edu	37	8	642576	642576	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr8:642576delT	ENST00000262109.7	-	3	283	c.206delA	c.(205-207)tacfs	p.Y69fs	ERICH1_ENST00000518277.1_5'UTR|ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	69										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GCTGGCAGTGTAGAGCCGTCG	0.582																																						dbGAP											0													35.0	37.0	36.0					8																	642576		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.206delA	8.37:g.642576delT	ENSP00000262109:p.Tyr69fs		A8K2J9|Q9P063	Frame_Shift_Del	DEL	NULL	p.Y69fs	ENST00000262109.7	37	c.206	CCDS5955.1	8																																																																																			ERICH1	-	NULL	ENSG00000104714		0.582	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERICH1	HGNC	protein_coding	OTTHUMT00000251228.3	58	0.00	0	T	NM_207332		642576	642576	-1	no_errors	ENST00000262109	ensembl	human	known	69_37n	frame_shift_del	25	50.98	26	DEL	0.246	-
ERICH1	157697	genome.wustl.edu	37	8	642576	642576	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr8:642576delT	ENST00000262109.7	-	3	283	c.206delA	c.(205-207)tacfs	p.Y69fs	ERICH1_ENST00000518277.1_5'UTR|ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	69										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GCTGGCAGTGTAGAGCCGTCG	0.582																																						dbGAP											0													35.0	37.0	36.0					8																	642576		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.206delA	8.37:g.642576delT	ENSP00000262109:p.Tyr69fs		A8K2J9|Q9P063	Frame_Shift_Del	DEL	NULL	p.Y69fs	ENST00000262109.7	37	c.206	CCDS5955.1	8																																																																																			ERICH1	-	NULL	ENSG00000104714		0.582	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERICH1	HGNC	protein_coding	OTTHUMT00000251228.3	40	0.00	0	T	NM_207332		642576	642576	-1	no_errors	ENST00000262109	ensembl	human	known	69_37n	frame_shift_del	25	50.98	26	DEL	0.246	-
EXOC3	11336	genome.wustl.edu	37	5	453697	453697	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr5:453697A>G	ENST00000512944.1	+	4	766	c.577A>G	c.(577-579)Atg>Gtg	p.M193V	EXOC3_ENST00000315013.5_Missense_Mutation_p.M193V	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	204					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCAGCTGTGGATGGTGCTGCA	0.562																																						dbGAP											0													80.0	81.0	81.0					5																	453697		2058	4200	6258	-	-	-	SO:0001583	missense	0			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.577A>G	5.37:g.453697A>G	ENSP00000425587:p.Met193Val		Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	pfam_Sec6	p.M193V	ENST00000512944.1	37	c.577	CCDS54830.1	5	.	.	.	.	.	.	.	.	.	.	A	11.44	1.639609	0.29157	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.06449	3.3;3.3	5.58	3.19	0.36642	.	0.036167	0.85682	N	0.000000	T	0.07279	0.0184	L	0.57536	1.79	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.22103	-1.0226	10	0.26408	T	0.33	-30.7292	8.4226	0.32710	0.8385:0.0:0.1615:0.0	.	204	O60645	EXOC3_HUMAN	V	193;193;203	ENSP00000425587:M193V;ENSP00000323377:M193V	ENSP00000323377:M193V	M	+	1	0	EXOC3	506697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.797000	0.69087	0.418000	0.25898	0.459000	0.35465	ATG	EXOC3	-	pfam_Sec6	ENSG00000180104		0.562	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	41	0.00	0	A	NM_007277		453697	453697	+1	no_errors	ENST00000315013	ensembl	human	known	69_37n	missense	65	45.38	54	SNP	1.000	G
FAN1	22909	genome.wustl.edu	37	15	31197787	31197788	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr15:31197787_31197788delTG	ENST00000362065.4	+	2	1212_1213	c.921_922delTG	c.(919-924)actgttfs	p.V308fs	FAN1_ENST00000561594.1_Frame_Shift_Del_p.V308fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.V308fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.V308fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	308					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TAAAAATGACTGTTGCTTCAGA	0.396								Direct reversal of damage																														dbGAP											0									,,,	6,4258		3,0,2129					,,,	3.5	0.3			63	89,8165		44,1,4082	no	frameshift,frameshift,frameshift,frameshift	FAN1	NM_014967.4,NM_001146096.1,NM_001146095.1,NM_001146094.1	,,,	47,1,6211	A1A1,A1R,RR		1.0783,0.1407,0.7589	,,,	,,,		95,12423				-	-	-	SO:0001589	frameshift_variant	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.921_922delTG	15.37:g.31197787_31197788delTG	ENSP00000354497:p.Val308fs		A8K4M2|Q86WU8	Frame_Shift_Del	DEL	pfam_VRR_NUC,smart_Znf_Rad18_put	p.V308fs	ENST00000362065.4	37	c.921_922	CCDS32186.1	15																																																																																			FAN1	-	NULL	ENSG00000198690		0.396	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	84	0.00	0	TG	NM_014967		31197787	31197788	+1	no_errors	ENST00000362065	ensembl	human	known	69_37n	frame_shift_del	17	26.09	6	DEL	0.000:0.000	-
FAN1	22909	genome.wustl.edu	37	15	31197787	31197788	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr15:31197787_31197788delTG	ENST00000362065.4	+	2	1212_1213	c.921_922delTG	c.(919-924)actgttfs	p.V308fs	FAN1_ENST00000561594.1_Frame_Shift_Del_p.V308fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.V308fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.V308fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	308					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TAAAAATGACTGTTGCTTCAGA	0.396								Direct reversal of damage																														dbGAP											0									,,,	6,4258		3,0,2129					,,,	3.5	0.3			63	89,8165		44,1,4082	no	frameshift,frameshift,frameshift,frameshift	FAN1	NM_014967.4,NM_001146096.1,NM_001146095.1,NM_001146094.1	,,,	47,1,6211	A1A1,A1R,RR		1.0783,0.1407,0.7589	,,,	,,,		95,12423				-	-	-	SO:0001589	frameshift_variant	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.921_922delTG	15.37:g.31197787_31197788delTG	ENSP00000354497:p.Val308fs		A8K4M2|Q86WU8	Frame_Shift_Del	DEL	pfam_VRR_NUC,smart_Znf_Rad18_put	p.V308fs	ENST00000362065.4	37	c.921_922	CCDS32186.1	15																																																																																			FAN1	-	NULL	ENSG00000198690		0.396	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	46	0.00	0	TG	NM_014967		31197787	31197788	+1	no_errors	ENST00000362065	ensembl	human	known	69_37n	frame_shift_del	17	26.09	6	DEL	0.000:0.000	-
FLG	2312	genome.wustl.edu	37	1	152282524	152282524	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr1:152282524G>A	ENST00000368799.1	-	3	4873	c.4838C>T	c.(4837-4839)tCg>tTg	p.S1613L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1613	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)			TCTGGAAGCCGACTCAGACCG	0.562									Ichthyosis																													dbGAP											0													118.0	129.0	125.0					1																	152282524		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.4838C>T	1.37:g.152282524G>A	ENSP00000357789:p.Ser1613Leu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S1613L	ENST00000368799.1	37	c.4838	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	5.853	0.341669	0.11069	.	.	ENSG00000143631	ENST00000368799	T	0.02103	4.45	2.07	1.11	0.20524	.	.	.	.	.	T	0.02533	0.0077	M	0.76574	2.34	0.09310	N	1	D	0.69078	0.997	P	0.56612	0.802	T	0.42582	-0.9443	9	0.39692	T	0.17	.	5.9544	0.19265	0.0:0.0:0.6939:0.3061	.	1613	P20930	FILA_HUMAN	L	1613	ENSP00000357789:S1613L	ENSP00000357789:S1613L	S	-	2	0	FLG	150549148	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.711000	0.25764	0.415000	0.25817	0.485000	0.47835	TCG	FLG	-	NULL	ENSG00000143631		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	121	0.00	0	G	NM_002016		152282524	152282524	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	189	11.27	24	SNP	0.001	A
FLG	2312	genome.wustl.edu	37	1	152282524	152282524	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr1:152282524G>A	ENST00000368799.1	-	3	4873	c.4838C>T	c.(4837-4839)tCg>tTg	p.S1613L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1613	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)			TCTGGAAGCCGACTCAGACCG	0.562									Ichthyosis																													dbGAP											0													118.0	129.0	125.0					1																	152282524		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.4838C>T	1.37:g.152282524G>A	ENSP00000357789:p.Ser1613Leu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S1613L	ENST00000368799.1	37	c.4838	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	5.853	0.341669	0.11069	.	.	ENSG00000143631	ENST00000368799	T	0.02103	4.45	2.07	1.11	0.20524	.	.	.	.	.	T	0.02533	0.0077	M	0.76574	2.34	0.09310	N	1	D	0.69078	0.997	P	0.56612	0.802	T	0.42582	-0.9443	9	0.39692	T	0.17	.	5.9544	0.19265	0.0:0.0:0.6939:0.3061	.	1613	P20930	FILA_HUMAN	L	1613	ENSP00000357789:S1613L	ENSP00000357789:S1613L	S	-	2	0	FLG	150549148	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.711000	0.25764	0.415000	0.25817	0.485000	0.47835	TCG	FLG	-	NULL	ENSG00000143631		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	271	0.00	0	G	NM_002016		152282524	152282524	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	189	11.27	24	SNP	0.001	A
FLNA	2316	genome.wustl.edu	37	X	153578025	153578026	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chrX:153578025_153578026insC	ENST00000369850.3	-	46	7779_7780	c.7543_7544insG	c.(7543-7545)aaafs	p.K2515fs	FLNA_ENST00000369856.3_Frame_Shift_Ins_p.K648fs|FLNA_ENST00000360319.4_Frame_Shift_Ins_p.K2507fs|FLNA_ENST00000344736.4_Frame_Shift_Ins_p.K2475fs|FLNA_ENST00000422373.1_Frame_Shift_Ins_p.K2507fs|FLNA_ENST00000498491.1_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2515					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)					ACCTGTGACTTTGGCCTTGAAG	0.644																																						dbGAP											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.7543_7544insG	X.37:g.153578025_153578026insC	ENSP00000358866:p.Lys2515fs		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.K2515fs	ENST00000369850.3	37	c.7544_7543	CCDS48194.1	X																																																																																			FLNA	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.644	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	14	0.00	0	-			153578025	153578026	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	frame_shift_ins	6	73.91	17	INS	0.991:1.000	C
GAS6	2621	genome.wustl.edu	37	13	114542717	114542718	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr13:114542717_114542718insC	ENST00000327773.6	-	5	595_596	c.449_450insG	c.(448-450)ggcfs	p.G150fs	GAS6_ENST00000355761.4_Frame_Shift_Ins_p.G96fs|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Frame_Shift_Ins_p.G150fs	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	150	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGCAGAGCCGGCCCCCCCAGCC	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.450dupG	13.37:g.114542724_114542724dupC	ENSP00000331831:p.Gly150fs		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Frame_Shift_Ins	INS	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.R151fs	ENST00000327773.6	37	c.450_449	CCDS45072.1	13																																																																																			GAS6	-	smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000183087		0.649	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	29	0.00	0	-	NM_000820		114542717	114542718	-1	no_errors	ENST00000357389	ensembl	human	known	69_37n	frame_shift_ins	31	11.43	4	INS	0.842:0.997	C
GPR182	11318	genome.wustl.edu	37	12	57389644	57389644	+	Silent	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr12:57389644G>A	ENST00000300098.1	+	2	870	c.651G>A	c.(649-651)gcG>gcA	p.A217A	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	217					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GGGCCCTGGCGGTGGCCCTGT	0.632																																						dbGAP											0													30.0	25.0	27.0					12																	57389644		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.651G>A	12.37:g.57389644G>A				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_G10D_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.A217	ENST00000300098.1	37	c.651	CCDS8927.1	12																																																																																			GPR182	-	pfam_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000166856		0.632	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR182	HGNC	protein_coding	OTTHUMT00000411212.1	110	0.00	0	G	NM_007264		57389644	57389644	+1	no_errors	ENST00000300098	ensembl	human	known	69_37n	silent	87	33.08	43	SNP	0.002	A
GPR182	11318	genome.wustl.edu	37	12	57389644	57389644	+	Silent	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr12:57389644G>A	ENST00000300098.1	+	2	870	c.651G>A	c.(649-651)gcG>gcA	p.A217A	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	217					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GGGCCCTGGCGGTGGCCCTGT	0.632																																						dbGAP											0													30.0	25.0	27.0					12																	57389644		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.651G>A	12.37:g.57389644G>A				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_G10D_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.A217	ENST00000300098.1	37	c.651	CCDS8927.1	12																																																																																			GPR182	-	pfam_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000166856		0.632	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR182	HGNC	protein_coding	OTTHUMT00000411212.1	87	0.00	0	G	NM_007264		57389644	57389644	+1	no_errors	ENST00000300098	ensembl	human	known	69_37n	silent	87	33.08	43	SNP	0.002	A
GRN	2896	genome.wustl.edu	37	17	42427851	42427851	+	Silent	SNP	T	T	G			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr17:42427851T>G	ENST00000053867.3	+	6	566	c.504T>G	c.(502-504)ggT>ggG	p.G168G	GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	168					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTCCGCACGGTGCCTTCTGCG	0.632											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													123.0	117.0	119.0					17																	42427851		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.504T>G	17.37:g.42427851T>G		908	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.C162G	ENST00000053867.3	37	c.484	CCDS11483.1	17																																																																																			GRN	-	smart_Granulin	ENSG00000030582		0.632	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	52	0.00	0	T	NM_002087		42427851	42427851	+1	no_errors	ENST00000586782	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	0.001	G
HPCAL1	3241	genome.wustl.edu	37	2	10559956	10559956	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr2:10559956C>T	ENST00000381765.3	+	4	599	c.73C>T	c.(73-75)Cac>Tac	p.H25Y	HPCAL1_ENST00000307845.3_Missense_Mutation_p.H25Y	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	25	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GTTCACCGACCACGAGCTGCA	0.627																																					Pancreas(70;1384 1800 31595 46836)	dbGAP											0													77.0	67.0	71.0					2																	10559956		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.73C>T	2.37:g.10559956C>T	ENSP00000371184:p.His25Tyr		Q969S5	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.H25Y	ENST00000381765.3	37	c.73	CCDS1671.1	2	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207710	0.39003	.	.	ENSG00000115756	ENST00000423674;ENST00000307845;ENST00000381765	T;T;T	0.66995	-0.24;1.99;1.99	5.28	5.28	0.74379	EF-hand-like domain (1);	0.090855	0.85682	D	0.000000	T	0.65595	0.2706	L	0.55481	1.735	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.63664	-0.6586	10	0.72032	D	0.01	.	18.9246	0.92540	0.0:1.0:0.0:0.0	.	25	P37235	HPCL1_HUMAN	Y	25	ENSP00000413689:H25Y;ENSP00000310749:H25Y;ENSP00000371184:H25Y	ENSP00000310749:H25Y	H	+	1	0	HPCAL1	10477407	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.028000	0.70889	2.463000	0.83235	0.561000	0.74099	CAC	HPCAL1	-	prints_Recoverin	ENSG00000115756		0.627	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL1	HGNC	protein_coding	OTTHUMT00000206898.1	25	0.00	0	C	NM_002149		10559956	10559956	+1	no_errors	ENST00000307845	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	1.000	T
HPCAL1	3241	genome.wustl.edu	37	2	10559956	10559956	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr2:10559956C>T	ENST00000381765.3	+	4	599	c.73C>T	c.(73-75)Cac>Tac	p.H25Y	HPCAL1_ENST00000307845.3_Missense_Mutation_p.H25Y	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	25	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GTTCACCGACCACGAGCTGCA	0.627																																					Pancreas(70;1384 1800 31595 46836)	dbGAP											0													77.0	67.0	71.0					2																	10559956		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.73C>T	2.37:g.10559956C>T	ENSP00000371184:p.His25Tyr		Q969S5	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.H25Y	ENST00000381765.3	37	c.73	CCDS1671.1	2	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207710	0.39003	.	.	ENSG00000115756	ENST00000423674;ENST00000307845;ENST00000381765	T;T;T	0.66995	-0.24;1.99;1.99	5.28	5.28	0.74379	EF-hand-like domain (1);	0.090855	0.85682	D	0.000000	T	0.65595	0.2706	L	0.55481	1.735	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.63664	-0.6586	10	0.72032	D	0.01	.	18.9246	0.92540	0.0:1.0:0.0:0.0	.	25	P37235	HPCL1_HUMAN	Y	25	ENSP00000413689:H25Y;ENSP00000310749:H25Y;ENSP00000371184:H25Y	ENSP00000310749:H25Y	H	+	1	0	HPCAL1	10477407	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.028000	0.70889	2.463000	0.83235	0.561000	0.74099	CAC	HPCAL1	-	prints_Recoverin	ENSG00000115756		0.627	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL1	HGNC	protein_coding	OTTHUMT00000206898.1	10	0.00	0	C	NM_002149		10559956	10559956	+1	no_errors	ENST00000307845	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	1.000	T
ITGB5	3693	genome.wustl.edu	37	3	124540269	124540269	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr3:124540269T>C	ENST00000296181.4	-	6	1129	c.833A>G	c.(832-834)gAt>gGt	p.D278G		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	278	VWFA.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GGGCACATCATCTGTTGTGAA	0.547																																						dbGAP											0													158.0	124.0	135.0					3																	124540269		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.833A>G	3.37:g.124540269T>C	ENSP00000296181:p.Asp278Gly		B0LPF8|B2RD70	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	p.D278G	ENST00000296181.4	37	c.833	CCDS3030.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.84|18.84	3.708955|3.708955	0.68615|0.68615	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000296181|ENST00000481591	D|.	0.99264|.	-5.65|.	5.52|5.52	4.35|4.35	0.52113|0.52113	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84938|0.84938	0.5583|0.5583	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.88398|0.88398	0.3013|0.3013	10|5	0.87932|.	D|.	0|.	.|.	12.8607|12.8607	0.57911|0.57911	0.0:0.0:0.1361:0.8639|0.0:0.0:0.1361:0.8639	.|.	278|.	P18084|.	ITB5_HUMAN|.	G|V	278|13	ENSP00000296181:D278G|.	ENSP00000296181:D278G|.	D|M	-|-	2|1	0|0	ITGB5|ITGB5	126022959|126022959	1.000000|1.000000	0.71417|0.71417	0.011000|0.011000	0.14972|0.14972	0.596000|0.596000	0.36781|0.36781	7.841000|7.841000	0.86834|0.86834	1.089000|1.089000	0.41292|0.41292	0.460000|0.460000	0.39030|0.39030	GAT|ATG	ITGB5	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	ENSG00000082781		0.547	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3	80	0.00	0	T	NM_002213		124540269	124540269	-1	no_errors	ENST00000296181	ensembl	human	known	69_37n	missense	95	18.10	21	SNP	0.986	C
ITGB5	3693	genome.wustl.edu	37	3	124540269	124540269	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr3:124540269T>C	ENST00000296181.4	-	6	1129	c.833A>G	c.(832-834)gAt>gGt	p.D278G		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	278	VWFA.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GGGCACATCATCTGTTGTGAA	0.547																																						dbGAP											0													158.0	124.0	135.0					3																	124540269		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.833A>G	3.37:g.124540269T>C	ENSP00000296181:p.Asp278Gly		B0LPF8|B2RD70	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	p.D278G	ENST00000296181.4	37	c.833	CCDS3030.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.84|18.84	3.708955|3.708955	0.68615|0.68615	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000296181|ENST00000481591	D|.	0.99264|.	-5.65|.	5.52|5.52	4.35|4.35	0.52113|0.52113	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84938|0.84938	0.5583|0.5583	H|H	0.95004|0.95004	3.61|3.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.88398|0.88398	0.3013|0.3013	10|5	0.87932|.	D|.	0|.	.|.	12.8607|12.8607	0.57911|0.57911	0.0:0.0:0.1361:0.8639|0.0:0.0:0.1361:0.8639	.|.	278|.	P18084|.	ITB5_HUMAN|.	G|V	278|13	ENSP00000296181:D278G|.	ENSP00000296181:D278G|.	D|M	-|-	2|1	0|0	ITGB5|ITGB5	126022959|126022959	1.000000|1.000000	0.71417|0.71417	0.011000|0.011000	0.14972|0.14972	0.596000|0.596000	0.36781|0.36781	7.841000|7.841000	0.86834|0.86834	1.089000|1.089000	0.41292|0.41292	0.460000|0.460000	0.39030|0.39030	GAT|ATG	ITGB5	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	ENSG00000082781		0.547	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3	99	0.00	0	T	NM_002213		124540269	124540269	-1	no_errors	ENST00000296181	ensembl	human	known	69_37n	missense	95	18.10	21	SNP	0.986	C
KCNH4	23415	genome.wustl.edu	37	17	40315703	40315704	+	Frame_Shift_Ins	INS	-	-	G	rs568376100		TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr17:40315703_40315704insG	ENST00000264661.3	-	13	2729_2730	c.2397_2398insC	c.(2395-2400)cccaggfs	p.R800fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.R800fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	800					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)		GCAGAGCACCTGGGGGGGCCGT	0.668																																					NSCLC(117;707 1703 2300 21308 31858)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_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.2398dupC	17.37:g.40315710_40315710dupG	ENSP00000264661:p.Arg800fs			Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.R799fs	ENST00000264661.3	37	c.2398_2397	CCDS11420.1	17																																																																																			KCNH4	-	NULL	ENSG00000089558		0.668	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	10	0.00	0	-	NM_012285		40315703	40315704	-1	no_errors	ENST00000264661	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.996:0.757	G
KCNH4	23415	genome.wustl.edu	37	17	40315703	40315704	+	Frame_Shift_Ins	INS	-	-	G	rs568376100		TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr17:40315703_40315704insG	ENST00000264661.3	-	13	2729_2730	c.2397_2398insC	c.(2395-2400)cccaggfs	p.R800fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.R800fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	800					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)		GCAGAGCACCTGGGGGGGCCGT	0.668																																					NSCLC(117;707 1703 2300 21308 31858)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_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.2398dupC	17.37:g.40315710_40315710dupG	ENSP00000264661:p.Arg800fs			Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.R799fs	ENST00000264661.3	37	c.2398_2397	CCDS11420.1	17																																																																																			KCNH4	-	NULL	ENSG00000089558		0.668	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	16	0.00	0	-	NM_012285		40315703	40315704	-1	no_errors	ENST00000264661	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.996:0.757	G
MALAT1	378938	genome.wustl.edu	37	11	65266821	65266822	+	lincRNA	DEL	AA	AA	-			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr11:65266821_65266822delAA	ENST00000534336.1	+	0	1589_1590				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TATTTAAAAGAAAATTGAGAGA	0.337																																						dbGAP											0																																										-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266823_65266824delAA				RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.337	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	22	0.00	0	AA	NR_002819		65266821	65266822	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	16	33.33	8	DEL	0.000:0.000	-
MALAT1	378938	genome.wustl.edu	37	11	65266821	65266822	+	lincRNA	DEL	AA	AA	-			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr11:65266821_65266822delAA	ENST00000534336.1	+	0	1589_1590				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TATTTAAAAGAAAATTGAGAGA	0.337																																						dbGAP											0																																										-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266823_65266824delAA				RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.337	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	19	0.00	0	AA	NR_002819		65266821	65266822	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	16	33.33	8	DEL	0.000:0.000	-
MAP2K4	6416	genome.wustl.edu	37	17	12011144	12011144	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr17:12011144C>T	ENST00000353533.5	+	5	614	c.551C>T	c.(550-552)tCg>tTg	p.S184L	MAP2K4_ENST00000415385.3_Missense_Mutation_p.S195L|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.S184L(4)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATGTCTACCTCGTTTGATAAG	0.299			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	15	Whole gene deletion(10)|Substitution - Missense(4)|Unknown(1)	breast(8)|ovary(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)											152.0	162.0	159.0					17																	12011144		2203	4298	6501	-	-	-	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.551C>T	17.37:g.12011144C>T	ENSP00000262445:p.Ser184Leu		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S195L	ENST00000353533.5	37	c.584	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165335	0.57476	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.26810	1.71;1.71	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	N	0.21373	0.66	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	0.34329	-0.9833	10	0.87932	D	0	.	18.1096	0.89530	0.0:1.0:0.0:0.0	.	56;195;184	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	L	184;195;161;56	ENSP00000262445:S184L;ENSP00000410402:S195L	ENSP00000262445:S184L	S	+	2	0	MAP2K4	11951869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.788000	0.85771	2.562000	0.86427	0.561000	0.74099	TCG	MAP2K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065559		0.299	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	282	0.00	0	C			12011144	12011144	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	missense	101	47.96	94	SNP	1.000	T
LINC01317	104355287	genome.wustl.edu	37	2	33952053	33952054	+	lincRNA	INS	-	-	G	rs564903235	byFrequency	TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr2:33952053_33952054insG	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							AAGAAAACTCAGCGGGGGCAGG	0.51																																						dbGAP											0																																										-	-	-			0																															2.37:g.33952054_33952054dupG				RNA	INS	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-	ENSG00000239649		0.510	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	23	0.00	0	-			33952053	33952054	-1	no_errors	ENST00000474610	ensembl	human	known	69_37n	rna	13	18.75	3	INS	0.020:0.003	G
NBPF10	100132406	genome.wustl.edu	37	1	145318952	145318952	+	Silent	SNP	A	A	G			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr1:145318952A>G	ENST00000342960.5	+	21	2810	c.2775A>G	c.(2773-2775)caA>caG	p.Q925Q	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	756						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAAAGGACCAAGAAGAGGAAG	0.468																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.2775A>G	1.37:g.145318952A>G			Q5RHC0|Q9NWN6	Silent	SNP	pfam_NBPF_dom	p.Q925	ENST00000342960.5	37	c.2775	CCDS53355.1	1																																																																																			NBPF10	-	NULL	ENSG00000163386		0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	HGNC	protein_coding		9	0.00	0	A	NM_001039703		145318952	145318952	+1	no_errors	ENST00000342960	ensembl	human	known	69_37n	silent	5	28.57	2	SNP	0.002	G
NINL	22981	genome.wustl.edu	37	20	25459629	25459629	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr20:25459629G>C	ENST00000278886.6	-	16	2204	c.2131C>G	c.(2131-2133)Ctg>Gtg	p.L711V	NINL_ENST00000422516.1_Missense_Mutation_p.L711V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	711					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGGGTGCCAGGCCCATCTGC	0.642																																						dbGAP											0													33.0	37.0	36.0					20																	25459629		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2131C>G	20.37:g.25459629G>C	ENSP00000278886:p.Leu711Val		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L711V	ENST00000278886.6	37	c.2131	CCDS33452.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.61|13.61	2.287226|2.287226	0.40494|0.40494	.|.	.|.	ENSG00000101004|ENSG00000101004	ENST00000278886;ENST00000422516|ENST00000336104	T;T|.	0.33654|.	3.34;1.4|.	4.54|4.54	-1.34|-1.34	0.09143|0.09143	.|.	1.619090|.	0.04025|.	N|.	0.300348|.	T|T	0.27098|0.27098	0.0664|0.0664	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|.	0.30914|.	0.206;0.3|.	B;B|.	0.31101|.	0.124;0.098|.	T|T	0.30851|0.30851	-0.9964|-0.9964	10|5	0.36615|.	T|.	0.2|.	-0.8041|-0.8041	7.4748|7.4748	0.27369|0.27369	0.1087:0.0:0.6787:0.2127|0.1087:0.0:0.6787:0.2127	.|.	711;711|.	Q9Y2I6-2;Q9Y2I6|.	.;NINL_HUMAN|.	V|R	711|12	ENSP00000278886:L711V;ENSP00000410431:L711V|.	ENSP00000278886:L711V|.	L|P	-|-	1|2	2|0	NINL|NINL	25407629|25407629	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.077000|0.077000	0.17291|0.17291	-0.031000|-0.031000	0.12287|0.12287	-0.196000|-0.196000	0.10366|0.10366	0.561000|0.561000	0.74099|0.74099	CTG|CCT	NINL	-	NULL	ENSG00000101004		0.642	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	30	0.00	0	G	NM_025176		25459629	25459629	-1	no_errors	ENST00000278886	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	0.000	C
NINL	22981	genome.wustl.edu	37	20	25459629	25459629	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr20:25459629G>C	ENST00000278886.6	-	16	2204	c.2131C>G	c.(2131-2133)Ctg>Gtg	p.L711V	NINL_ENST00000422516.1_Missense_Mutation_p.L711V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	711					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGGGTGCCAGGCCCATCTGC	0.642																																						dbGAP											0													33.0	37.0	36.0					20																	25459629		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2131C>G	20.37:g.25459629G>C	ENSP00000278886:p.Leu711Val		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L711V	ENST00000278886.6	37	c.2131	CCDS33452.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.61|13.61	2.287226|2.287226	0.40494|0.40494	.|.	.|.	ENSG00000101004|ENSG00000101004	ENST00000278886;ENST00000422516|ENST00000336104	T;T|.	0.33654|.	3.34;1.4|.	4.54|4.54	-1.34|-1.34	0.09143|0.09143	.|.	1.619090|.	0.04025|.	N|.	0.300348|.	T|T	0.27098|0.27098	0.0664|0.0664	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|.	0.30914|.	0.206;0.3|.	B;B|.	0.31101|.	0.124;0.098|.	T|T	0.30851|0.30851	-0.9964|-0.9964	10|5	0.36615|.	T|.	0.2|.	-0.8041|-0.8041	7.4748|7.4748	0.27369|0.27369	0.1087:0.0:0.6787:0.2127|0.1087:0.0:0.6787:0.2127	.|.	711;711|.	Q9Y2I6-2;Q9Y2I6|.	.;NINL_HUMAN|.	V|R	711|12	ENSP00000278886:L711V;ENSP00000410431:L711V|.	ENSP00000278886:L711V|.	L|P	-|-	1|2	2|0	NINL|NINL	25407629|25407629	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.077000|0.077000	0.17291|0.17291	-0.031000|-0.031000	0.12287|0.12287	-0.196000|-0.196000	0.10366|0.10366	0.561000|0.561000	0.74099|0.74099	CTG|CCT	NINL	-	NULL	ENSG00000101004		0.642	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	21	0.00	0	G	NM_025176		25459629	25459629	-1	no_errors	ENST00000278886	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	0.000	C
NPY1R	4886	genome.wustl.edu	37	4	164247685	164247685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr4:164247685G>A	ENST00000296533.2	-	2	553	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	8					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.Q8*(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTTCAACCTGGGAAAATAAT	0.358																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											87.0	86.0	87.0					4																	164247685		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.22C>T	4.37:g.164247685G>A	ENSP00000354652:p.Gln8*		B2R6H5	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_supfam,prints_NPY1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.Q8*	ENST00000296533.2	37	c.22	CCDS34089.1	4	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879464	0.91740	.	.	ENSG00000164128	ENST00000296533;ENST00000504790;ENST00000515701;ENST00000511901	.	.	.	5.55	-0.542	0.11854	.	3.131710	0.00682	N	0.000699	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	2.4745	0.04572	0.117:0.129:0.3423:0.4117	.	.	.	.	X	8	.	ENSP00000354652:Q8X	Q	-	1	0	NPY1R	164467135	0.017000	0.18338	0.001000	0.08648	0.480000	0.33159	1.357000	0.34090	-0.020000	0.14032	-0.188000	0.12872	CAG	NPY1R	-	NULL	ENSG00000164128		0.358	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY1R	HGNC	protein_coding	OTTHUMT00000364685.1	167	0.60	1	G			164247685	164247685	-1	no_errors	ENST00000296533	ensembl	human	known	69_37n	nonsense	165	10.75	20	SNP	0.000	A
NPY1R	4886	genome.wustl.edu	37	4	164247685	164247685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr4:164247685G>A	ENST00000296533.2	-	2	553	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	8					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.Q8*(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTTCAACCTGGGAAAATAAT	0.358																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											87.0	86.0	87.0					4																	164247685		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.22C>T	4.37:g.164247685G>A	ENSP00000354652:p.Gln8*		B2R6H5	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_supfam,prints_NPY1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.Q8*	ENST00000296533.2	37	c.22	CCDS34089.1	4	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879464	0.91740	.	.	ENSG00000164128	ENST00000296533;ENST00000504790;ENST00000515701;ENST00000511901	.	.	.	5.55	-0.542	0.11854	.	3.131710	0.00682	N	0.000699	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	2.4745	0.04572	0.117:0.129:0.3423:0.4117	.	.	.	.	X	8	.	ENSP00000354652:Q8X	Q	-	1	0	NPY1R	164467135	0.017000	0.18338	0.001000	0.08648	0.480000	0.33159	1.357000	0.34090	-0.020000	0.14032	-0.188000	0.12872	CAG	NPY1R	-	NULL	ENSG00000164128		0.358	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY1R	HGNC	protein_coding	OTTHUMT00000364685.1	188	0.00	0	G			164247685	164247685	-1	no_errors	ENST00000296533	ensembl	human	known	69_37n	nonsense	165	10.75	20	SNP	0.000	A
NUP160	23279	genome.wustl.edu	37	11	47814420	47814420	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr11:47814420T>C	ENST00000378460.2	-	28	3414	c.3368A>G	c.(3367-3369)aAc>aGc	p.N1123S	NUP160_ENST00000530326.1_Missense_Mutation_p.N1009S|NUP160_ENST00000528071.1_Missense_Mutation_p.N1009S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1123					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						CAGATAACAGTTGCCTTGTTT	0.448																																						dbGAP											0													142.0	132.0	135.0					11																	47814420		2201	4298	6499	-	-	-	SO:0001583	missense	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.3368A>G	11.37:g.47814420T>C	ENSP00000367721:p.Asn1123Ser		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.N1123S	ENST00000378460.2	37	c.3368	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	T	15.23	2.773275	0.49786	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.45276	1.43;0.9;0.91	5.44	3.14	0.36123	.	0.185269	0.48286	N	0.000187	T	0.27313	0.0670	L	0.31294	0.92	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.05386	-1.0888	10	0.20046	T	0.44	.	9.1547	0.36985	0.0:0.1492:0.0:0.8508	.	1123	Q12769	NU160_HUMAN	S	1123;1009;1009	ENSP00000367721:N1123S;ENSP00000433590:N1009S;ENSP00000432367:N1009S	ENSP00000367721:N1123S	N	-	2	0	NUP160	47770996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.644000	0.46613	0.387000	0.25024	0.528000	0.53228	AAC	NUP160	-	NULL	ENSG00000030066		0.448	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	269	0.00	0	T	NM_015231		47814420	47814420	-1	no_errors	ENST00000378460	ensembl	human	known	69_37n	missense	194	19.50	47	SNP	1.000	C
NUP160	23279	genome.wustl.edu	37	11	47814420	47814420	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr11:47814420T>C	ENST00000378460.2	-	28	3414	c.3368A>G	c.(3367-3369)aAc>aGc	p.N1123S	NUP160_ENST00000530326.1_Missense_Mutation_p.N1009S|NUP160_ENST00000528071.1_Missense_Mutation_p.N1009S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1123					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						CAGATAACAGTTGCCTTGTTT	0.448																																						dbGAP											0													142.0	132.0	135.0					11																	47814420		2201	4298	6499	-	-	-	SO:0001583	missense	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.3368A>G	11.37:g.47814420T>C	ENSP00000367721:p.Asn1123Ser		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.N1123S	ENST00000378460.2	37	c.3368	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	T	15.23	2.773275	0.49786	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.45276	1.43;0.9;0.91	5.44	3.14	0.36123	.	0.185269	0.48286	N	0.000187	T	0.27313	0.0670	L	0.31294	0.92	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.05386	-1.0888	10	0.20046	T	0.44	.	9.1547	0.36985	0.0:0.1492:0.0:0.8508	.	1123	Q12769	NU160_HUMAN	S	1123;1009;1009	ENSP00000367721:N1123S;ENSP00000433590:N1009S;ENSP00000432367:N1009S	ENSP00000367721:N1123S	N	-	2	0	NUP160	47770996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.644000	0.46613	0.387000	0.25024	0.528000	0.53228	AAC	NUP160	-	NULL	ENSG00000030066		0.448	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	223	0.00	0	T	NM_015231		47814420	47814420	-1	no_errors	ENST00000378460	ensembl	human	known	69_37n	missense	194	19.50	47	SNP	1.000	C
NXPH3	11248	genome.wustl.edu	37	17	47656146	47656147	+	Frame_Shift_Ins	INS	-	-	C	rs547958058		TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr17:47656146_47656147insC	ENST00000328741.5	+	2	605_606	c.243_244insC	c.(244-246)cccfs	p.P82fs	NXPH3_ENST00000513748.1_Frame_Shift_Ins_p.P82fs|RP5-1029K10.4_ENST00000503624.1_RNA	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	82	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					TTCTTGGGCAGCCCCCCAACCG	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.249dupC	17.37:g.47656152_47656152dupC	ENSP00000329295:p.Pro82fs		Q8NDC3|Q8TBF6|Q9ULR1	Frame_Shift_Ins	INS	pirsf_Neurexophilin	p.N83fs	ENST00000328741.5	37	c.243_244	CCDS11550.1	17																																																																																			NXPH3	-	pirsf_Neurexophilin	ENSG00000182575		0.634	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH3	HGNC	protein_coding	OTTHUMT00000365143.1	27	0.00	0	-			47656146	47656147	+1	no_errors	ENST00000328741	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.998:0.995	C
PCDHB12	56124	genome.wustl.edu	37	5	140590267	140590267	+	Silent	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr5:140590267G>A	ENST00000239450.2	+	1	1977	c.1788G>A	c.(1786-1788)tcG>tcA	p.S596S	PCDHB12_ENST00000541609.1_Silent_p.S259S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	596	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGTGACTCGGGCCAGAACG	0.716																																						dbGAP											0													30.0	35.0	33.0					5																	140590267		2171	4246	6417	-	-	-	SO:0001819	synonymous_variant	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1788G>A	5.37:g.140590267G>A			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S596	ENST00000239450.2	37	c.1788	CCDS4254.1	5																																																																																			PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120328		0.716	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	66	0.00	0	G	NM_018932		140590267	140590267	+1	no_errors	ENST00000239450	ensembl	human	known	69_37n	silent	69	20.69	18	SNP	0.988	A
PCDHB12	56124	genome.wustl.edu	37	5	140590267	140590267	+	Silent	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr5:140590267G>A	ENST00000239450.2	+	1	1977	c.1788G>A	c.(1786-1788)tcG>tcA	p.S596S	PCDHB12_ENST00000541609.1_Silent_p.S259S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	596	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGTGACTCGGGCCAGAACG	0.716																																						dbGAP											0													30.0	35.0	33.0					5																	140590267		2171	4246	6417	-	-	-	SO:0001819	synonymous_variant	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1788G>A	5.37:g.140590267G>A			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S596	ENST00000239450.2	37	c.1788	CCDS4254.1	5																																																																																			PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120328		0.716	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	106	0.00	0	G	NM_018932		140590267	140590267	+1	no_errors	ENST00000239450	ensembl	human	known	69_37n	silent	69	20.69	18	SNP	0.988	A
PIK3R4	30849	genome.wustl.edu	37	3	130452677	130452677	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr3:130452677G>C	ENST00000356763.3	-	4	1722	c.1165C>G	c.(1165-1167)Ctt>Gtt	p.L389V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	389					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CAGTATTTAAGGGTCTGTAGG	0.408																																						dbGAP											0													138.0	136.0	136.0					3																	130452677		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1165C>G	3.37:g.130452677G>C	ENSP00000349205:p.Leu389Val		Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L389V	ENST00000356763.3	37	c.1165	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853485	0.71719	.	.	ENSG00000196455	ENST00000356763	T	0.32023	1.47	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.06972	-1.0797	10	0.31617	T	0.26	-27.0355	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	389	Q99570	PI3R4_HUMAN	V	389	ENSP00000349205:L389V	ENSP00000349205:L389V	L	-	1	0	PIK3R4	131935367	1.000000	0.71417	0.522000	0.27862	0.726000	0.41606	7.455000	0.80726	2.941000	0.99782	0.655000	0.94253	CTT	PIK3R4	-	superfamily_ARM-type_fold	ENSG00000196455		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	560	0.00	0	G	NM_014602		130452677	130452677	-1	no_errors	ENST00000356763	ensembl	human	known	69_37n	missense	336	16.09	65	SNP	1.000	C
PIK3R4	30849	genome.wustl.edu	37	3	130452677	130452677	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr3:130452677G>C	ENST00000356763.3	-	4	1722	c.1165C>G	c.(1165-1167)Ctt>Gtt	p.L389V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	389					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CAGTATTTAAGGGTCTGTAGG	0.408																																						dbGAP											0													138.0	136.0	136.0					3																	130452677		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1165C>G	3.37:g.130452677G>C	ENSP00000349205:p.Leu389Val		Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L389V	ENST00000356763.3	37	c.1165	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853485	0.71719	.	.	ENSG00000196455	ENST00000356763	T	0.32023	1.47	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.06972	-1.0797	10	0.31617	T	0.26	-27.0355	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	389	Q99570	PI3R4_HUMAN	V	389	ENSP00000349205:L389V	ENSP00000349205:L389V	L	-	1	0	PIK3R4	131935367	1.000000	0.71417	0.522000	0.27862	0.726000	0.41606	7.455000	0.80726	2.941000	0.99782	0.655000	0.94253	CTT	PIK3R4	-	superfamily_ARM-type_fold	ENSG00000196455		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	541	0.00	0	G	NM_014602		130452677	130452677	-1	no_errors	ENST00000356763	ensembl	human	known	69_37n	missense	336	16.09	65	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	84	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	68	19.05	16	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	84	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	68	19.05	16	SNP	1.000	A
PLB1	151056	genome.wustl.edu	37	2	28812939	28812940	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr2:28812939_28812940delAC	ENST00000327757.5	+	29	2128_2129	c.2084_2085delAC	c.(2083-2085)aacfs	p.N695fs	PLB1_ENST00000329020.6_Frame_Shift_Del_p.N383fs|PLB1_ENST00000422425.2_Frame_Shift_Del_p.N684fs	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	695	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACATGTCCGAACCAGGTAGAGT	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2084_2085delAC	2.37:g.28812939_28812940delAC	ENSP00000330442:p.Asn695fs		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Frame_Shift_Del	DEL	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.N684fs	ENST00000327757.5	37	c.2051_2052	CCDS33168.1	2																																																																																			PLB1	-	NULL	ENSG00000163803		0.545	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	69	0.00	0	AC			28812939	28812940	+1	no_errors	ENST00000422425	ensembl	human	known	69_37n	frame_shift_del	59	35.00	35	DEL	0.000:0.003	-
PLB1	151056	genome.wustl.edu	37	2	28812939	28812940	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr2:28812939_28812940delAC	ENST00000327757.5	+	29	2128_2129	c.2084_2085delAC	c.(2083-2085)aacfs	p.N695fs	PLB1_ENST00000329020.6_Frame_Shift_Del_p.N383fs|PLB1_ENST00000422425.2_Frame_Shift_Del_p.N684fs	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	695	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACATGTCCGAACCAGGTAGAGT	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2084_2085delAC	2.37:g.28812939_28812940delAC	ENSP00000330442:p.Asn695fs		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Frame_Shift_Del	DEL	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.N684fs	ENST00000327757.5	37	c.2051_2052	CCDS33168.1	2																																																																																			PLB1	-	NULL	ENSG00000163803		0.545	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	86	0.00	0	AC			28812939	28812940	+1	no_errors	ENST00000422425	ensembl	human	known	69_37n	frame_shift_del	59	35.00	35	DEL	0.000:0.003	-
PRPF19	27339	genome.wustl.edu	37	11	60666746	60666746	+	Missense_Mutation	SNP	T	T	G	rs201780573		TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr11:60666746T>G	ENST00000227524.4	-	11	1064	c.859A>C	c.(859-861)Act>Cct	p.T287P		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.T287P(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						ATCCTGATAGTGGCATCGGGG	0.488											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|lung(1)											59.0	54.0	55.0					11																	60666746		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.859A>C	11.37:g.60666746T>G	ENSP00000227524:p.Thr287Pro	1047		Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T287P	ENST00000227524.4	37	c.859	CCDS7995.1	11	.	.	.	.	.	.	.	.	.	.	T	27.5	4.838874	0.91117	.	.	ENSG00000110107	ENST00000227524	T	0.69806	-0.43	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);Ricin B lectin (1);	0.000000	0.85682	D	0.000000	D	0.88448	0.6439	H	0.98005	4.125	0.80722	D	1	D	0.53619	0.961	D	0.67725	0.953	D	0.92498	0.6006	10	0.87932	D	0	-24.5469	16.0218	0.80503	0.0:0.0:0.0:1.0	.	287	Q9UMS4	PRP19_HUMAN	P	287	ENSP00000227524:T287P	ENSP00000227524:T287P	T	-	1	0	PRPF19	60423322	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.287000	0.78681	2.254000	0.74563	0.533000	0.62120	ACT	PRPF19	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000110107		0.488	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF19	HGNC	protein_coding	OTTHUMT00000396334.1	65	0.00	0	T	NM_014502		60666746	60666746	-1	no_errors	ENST00000227524	ensembl	human	known	69_37n	missense	47	17.24	10	SNP	1.000	G
PTK2B	2185	genome.wustl.edu	37	8	27289870	27289871	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr8:27289870_27289871insC	ENST00000397501.1	+	15	1787_1788	c.979_980insC	c.(979-981)gccfs	p.A327fs	PTK2B_ENST00000346049.5_Frame_Shift_Ins_p.A327fs|PTK2B_ENST00000517339.1_Frame_Shift_Ins_p.A327fs|PTK2B_ENST00000544172.1_Frame_Shift_Ins_p.A327fs|PTK2B_ENST00000420218.2_Frame_Shift_Ins_p.A327fs|PTK2B_ENST00000338238.4_Frame_Shift_Ins_p.A327fs|PTK2B_ENST00000397497.4_Frame_Shift_Ins_p.A73fs	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	327	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CATTGAAGGTGCCCCCCAGGTG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.985dupC	8.37:g.27289876_27289876dupC	ENSP00000380638:p.Ala327fs		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q329fs	ENST00000397501.1	37	c.979_980	CCDS6057.1	8																																																																																			PTK2B	-	pfscan_FERM_domain	ENSG00000120899		0.609	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	29	0.00	0	-	NM_004103		27289870	27289871	+1	no_errors	ENST00000346049	ensembl	human	known	69_37n	frame_shift_ins	15	16.67	3	INS	0.999:1.000	C
RAD9B	144715	genome.wustl.edu	37	12	110943484	110943485	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr12:110943484_110943485insT	ENST00000409778.3	+	3	204_205	c.180_181insT	c.(181-183)tttfs	p.F61fs	RAD9B_ENST00000392672.4_Frame_Shift_Ins_p.F61fs|RAD9B_ENST00000409246.1_5'UTR|RAD9B_ENST00000433301.1_3'UTR|RAD9B_ENST00000409425.1_5'UTR|RAD9B_ENST00000409300.1_Frame_Shift_Ins_p.F61fs			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	58					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCTCTCCTGTGTTTTTTCAGCA	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.186dupT	12.37:g.110943490_110943490dupT	ENSP00000386697:p.Phe61fs		Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Frame_Shift_Ins	INS	pfam_Rad9,pirsf_Cell_cycle_RAD9	p.Q62fs	ENST00000409778.3	37	c.180_181		12																																																																																			RAD9B	-	pfam_Rad9,pirsf_Cell_cycle_RAD9	ENSG00000151164		0.351	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	RAD9B	HGNC	protein_coding	OTTHUMT00000404634.1	39	0.00	0	-	NM_152442		110943484	110943485	+1	no_errors	ENST00000392672	ensembl	human	known	69_37n	frame_shift_ins	27	10.00	3	INS	0.690:0.996	T
RAD9B	144715	genome.wustl.edu	37	12	110943484	110943485	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr12:110943484_110943485insT	ENST00000409778.3	+	3	204_205	c.180_181insT	c.(181-183)tttfs	p.F61fs	RAD9B_ENST00000392672.4_Frame_Shift_Ins_p.F61fs|RAD9B_ENST00000409246.1_5'UTR|RAD9B_ENST00000433301.1_3'UTR|RAD9B_ENST00000409425.1_5'UTR|RAD9B_ENST00000409300.1_Frame_Shift_Ins_p.F61fs			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	58					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCTCTCCTGTGTTTTTTCAGCA	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.186dupT	12.37:g.110943490_110943490dupT	ENSP00000386697:p.Phe61fs		Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Frame_Shift_Ins	INS	pfam_Rad9,pirsf_Cell_cycle_RAD9	p.Q62fs	ENST00000409778.3	37	c.180_181		12																																																																																			RAD9B	-	pfam_Rad9,pirsf_Cell_cycle_RAD9	ENSG00000151164		0.351	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	RAD9B	HGNC	protein_coding	OTTHUMT00000404634.1	46	0.00	0	-	NM_152442		110943484	110943485	+1	no_errors	ENST00000392672	ensembl	human	known	69_37n	frame_shift_ins	27	10.00	3	INS	0.690:0.996	T
RNGTT	8732	genome.wustl.edu	37	6	89600290	89600290	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr6:89600290C>T	ENST00000369485.4	-	8	1006	c.820G>A	c.(820-822)Gtt>Att	p.V274I	RNGTT_ENST00000369475.3_Missense_Mutation_p.V274I|RNGTT_ENST00000538899.1_Missense_Mutation_p.V214I|RNGTT_ENST00000265607.6_Missense_Mutation_p.V274I	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	274	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TCCATGGAAACAGGCTGTGCT	0.378																																						dbGAP											0													101.0	93.0	95.0					6																	89600290		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.820G>A	6.37:g.89600290C>T	ENSP00000358497:p.Val274Ile		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase	p.V274I	ENST00000369485.4	37	c.820	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409018	0.83340	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.3	4.43	0.53597	mRNA capping enzyme (1);	0.000000	0.85682	D	0.000000	D	0.89574	0.6754	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.71674	0.998;0.993;0.991;0.993	D;D;D;D	0.76575	0.945;0.971;0.973;0.988	D	0.89402	0.3696	10	0.40728	T	0.16	.	14.5049	0.67746	0.0:0.9286:0.0:0.0714	.	214;274;274;274	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	I	274;274;214;245;274	ENSP00000358497:V274I;ENSP00000265607:V274I;ENSP00000442609:V214I;ENSP00000358487:V274I	ENSP00000265607:V274I	V	-	1	0	RNGTT	89657009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.525000	0.60559	1.371000	0.46172	0.591000	0.81541	GTT	RNGTT	-	pfam_mRNA_cap_enzyme,pirsf_mRNA_cap_enz_bifunc	ENSG00000111880		0.378	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	84	0.00	0	C			89600290	89600290	-1	no_errors	ENST00000369485	ensembl	human	known	69_37n	missense	68	11.69	9	SNP	1.000	T
RNGTT	8732	genome.wustl.edu	37	6	89600290	89600290	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr6:89600290C>T	ENST00000369485.4	-	8	1006	c.820G>A	c.(820-822)Gtt>Att	p.V274I	RNGTT_ENST00000369475.3_Missense_Mutation_p.V274I|RNGTT_ENST00000538899.1_Missense_Mutation_p.V214I|RNGTT_ENST00000265607.6_Missense_Mutation_p.V274I	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	274	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TCCATGGAAACAGGCTGTGCT	0.378																																						dbGAP											0													101.0	93.0	95.0					6																	89600290		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.820G>A	6.37:g.89600290C>T	ENSP00000358497:p.Val274Ile		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase	p.V274I	ENST00000369485.4	37	c.820	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409018	0.83340	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.3	4.43	0.53597	mRNA capping enzyme (1);	0.000000	0.85682	D	0.000000	D	0.89574	0.6754	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.71674	0.998;0.993;0.991;0.993	D;D;D;D	0.76575	0.945;0.971;0.973;0.988	D	0.89402	0.3696	10	0.40728	T	0.16	.	14.5049	0.67746	0.0:0.9286:0.0:0.0714	.	214;274;274;274	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	I	274;274;214;245;274	ENSP00000358497:V274I;ENSP00000265607:V274I;ENSP00000442609:V214I;ENSP00000358487:V274I	ENSP00000265607:V274I	V	-	1	0	RNGTT	89657009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.525000	0.60559	1.371000	0.46172	0.591000	0.81541	GTT	RNGTT	-	pfam_mRNA_cap_enzyme,pirsf_mRNA_cap_enz_bifunc	ENSG00000111880		0.378	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	142	0.00	0	C			89600290	89600290	-1	no_errors	ENST00000369485	ensembl	human	known	69_37n	missense	68	11.69	9	SNP	1.000	T
RPL18A	6142	genome.wustl.edu	37	19	17972210	17972211	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr19:17972210_17972211insCT	ENST00000222247.5	+	2	208_209	c.127_128insCT	c.(127-129)cgcfs	p.R43fs	RPL18A_ENST00000599898.1_Intron|SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000600147.1_Frame_Shift_Ins_p.R43fs|RPL18A_ENST00000599870.1_Frame_Shift_Ins_p.R14fs	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	43					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R43C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CGCCAAGTCCCGCTTCTGGTAC	0.559																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		Exception_encountered	19.37:g.17972210_17972211insCT	ENSP00000222247:p.Arg43fs			Frame_Shift_Ins	INS	pfam_Ribosomal_L18a/LX	p.R43fs	ENST00000222247.5	37	c.127_128	CCDS12367.1	19																																																																																			RPL18A	-	pfam_Ribosomal_L18a/LX	ENSG00000105640		0.559	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL18A	HGNC	protein_coding	OTTHUMT00000466679.1	12	0.00	0	-	NM_000980		17972210	17972211	+1	no_errors	ENST00000222247	ensembl	human	known	69_37n	frame_shift_ins	20	31.03	9	INS	1.000:1.000	CT
RPL18A	6142	genome.wustl.edu	37	19	17972210	17972211	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr19:17972210_17972211insCT	ENST00000222247.5	+	2	208_209	c.127_128insCT	c.(127-129)cgcfs	p.R43fs	RPL18A_ENST00000599898.1_Intron|SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000600147.1_Frame_Shift_Ins_p.R43fs|RPL18A_ENST00000599870.1_Frame_Shift_Ins_p.R14fs	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	43					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R43C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CGCCAAGTCCCGCTTCTGGTAC	0.559																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		Exception_encountered	19.37:g.17972210_17972211insCT	ENSP00000222247:p.Arg43fs			Frame_Shift_Ins	INS	pfam_Ribosomal_L18a/LX	p.R43fs	ENST00000222247.5	37	c.127_128	CCDS12367.1	19																																																																																			RPL18A	-	pfam_Ribosomal_L18a/LX	ENSG00000105640		0.559	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL18A	HGNC	protein_coding	OTTHUMT00000466679.1	38	0.00	0	-	NM_000980		17972210	17972211	+1	no_errors	ENST00000222247	ensembl	human	known	69_37n	frame_shift_ins	20	31.03	9	INS	1.000:1.000	CT
SBF1	6305	genome.wustl.edu	37	22	50900046	50900047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr22:50900046_50900047insC	ENST00000390679.3	-	22	2928_2929	c.2744_2745insG	c.(2743-2745)ggcfs	p.G915fs	SBF1_ENST00000348911.6_Frame_Shift_Ins_p.G916fs|SBF1_ENST00000380817.3_Frame_Shift_Ins_p.G915fs			O95248	MTMR5_HUMAN	SET binding factor 1	915	GRAM.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCAGCACTGCCCCCCGCGCC	0.713																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2745dupG	22.37:g.50900052_50900052dupC	ENSP00000375097:p.Gly915fs		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Frame_Shift_Ins	INS	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.S916fs	ENST00000390679.3	37	c.2745_2744		22																																																																																			SBF1	-	pfam_GRAM,smart_GRAM	ENSG00000100241		0.713	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		10	0.00	0	-			50900046	50900047	-1	no_errors	ENST00000380817	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.064:0.930	C
SBF1	6305	genome.wustl.edu	37	22	50900046	50900047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr22:50900046_50900047insC	ENST00000390679.3	-	22	2928_2929	c.2744_2745insG	c.(2743-2745)ggcfs	p.G915fs	SBF1_ENST00000348911.6_Frame_Shift_Ins_p.G916fs|SBF1_ENST00000380817.3_Frame_Shift_Ins_p.G915fs			O95248	MTMR5_HUMAN	SET binding factor 1	915	GRAM.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCAGCACTGCCCCCCGCGCC	0.713																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2745dupG	22.37:g.50900052_50900052dupC	ENSP00000375097:p.Gly915fs		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Frame_Shift_Ins	INS	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.S916fs	ENST00000390679.3	37	c.2745_2744		22																																																																																			SBF1	-	pfam_GRAM,smart_GRAM	ENSG00000100241		0.713	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		15	0.00	0	-			50900046	50900047	-1	no_errors	ENST00000380817	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.064:0.930	C
SGSM1	129049	genome.wustl.edu	37	22	25308612	25308612	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr22:25308612G>T	ENST00000400359.4	+	23	2993	c.2986G>T	c.(2986-2988)Gcc>Tcc	p.A996S	SGSM1_ENST00000400358.4_Missense_Mutation_p.A941S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	996	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTTCTCAGAGGCCCTTGCCTT	0.507																																						dbGAP											0													59.0	59.0	59.0					22																	25308612		2129	4253	6382	-	-	-	SO:0001583	missense	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2986G>T	22.37:g.25308612G>T	ENSP00000383212:p.Ala996Ser		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.A996S	ENST00000400359.4	37	c.2986	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	g	13.78	2.338076	0.41398	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.10763	2.84;2.84	5.3	5.3	0.74995	Rab-GAP/TBC domain (4);	0.103731	0.64402	D	0.000003	T	0.10380	0.0254	N	0.16307	0.4	0.80722	D	1	B;B;P;P	0.50528	0.086;0.351;0.936;0.482	B;B;P;B	0.48952	0.067;0.235;0.596;0.306	T	0.09228	-1.0684	10	0.06365	T	0.9	-20.1867	18.3333	0.90277	0.0:0.0:1.0:0.0	.	941;996;1013;996	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	S	996;941;996	ENSP00000383211:A941S;ENSP00000383212:A996S	ENSP00000383211:A941S	A	+	1	0	SGSM1	23638612	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.779000	0.99018	2.663000	0.90544	0.655000	0.94253	GCC	SGSM1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167037		0.507	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	51	0.00	0	G	XM_059318		25308612	25308612	+1	no_errors	ENST00000400359	ensembl	human	known	69_37n	missense	43	37.68	26	SNP	1.000	T
SGSM1	129049	genome.wustl.edu	37	22	25308612	25308612	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr22:25308612G>T	ENST00000400359.4	+	23	2993	c.2986G>T	c.(2986-2988)Gcc>Tcc	p.A996S	SGSM1_ENST00000400358.4_Missense_Mutation_p.A941S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	996	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTTCTCAGAGGCCCTTGCCTT	0.507																																						dbGAP											0													59.0	59.0	59.0					22																	25308612		2129	4253	6382	-	-	-	SO:0001583	missense	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2986G>T	22.37:g.25308612G>T	ENSP00000383212:p.Ala996Ser		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.A996S	ENST00000400359.4	37	c.2986	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	g	13.78	2.338076	0.41398	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.10763	2.84;2.84	5.3	5.3	0.74995	Rab-GAP/TBC domain (4);	0.103731	0.64402	D	0.000003	T	0.10380	0.0254	N	0.16307	0.4	0.80722	D	1	B;B;P;P	0.50528	0.086;0.351;0.936;0.482	B;B;P;B	0.48952	0.067;0.235;0.596;0.306	T	0.09228	-1.0684	10	0.06365	T	0.9	-20.1867	18.3333	0.90277	0.0:0.0:1.0:0.0	.	941;996;1013;996	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	S	996;941;996	ENSP00000383211:A941S;ENSP00000383212:A996S	ENSP00000383211:A941S	A	+	1	0	SGSM1	23638612	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.779000	0.99018	2.663000	0.90544	0.655000	0.94253	GCC	SGSM1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167037		0.507	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	87	0.00	0	G	XM_059318		25308612	25308612	+1	no_errors	ENST00000400359	ensembl	human	known	69_37n	missense	43	37.68	26	SNP	1.000	T
SLCO1B7	338821	genome.wustl.edu	37	12	21168658	21168658	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr12:21168658G>A	ENST00000421593.2	+	1	29	c.29G>A	c.(28-30)aGg>aAg	p.R10K	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CAAATAGAAAGGAGATTTGAG	0.328																																						dbGAP											0													72.0	73.0	73.0					12																	21168658		2155	4283	6438	-	-	-	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.29G>A	12.37:g.21168658G>A	ENSP00000394168:p.Arg10Lys		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R10K	ENST00000421593.2	37	c.29	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	15.32	2.800045	0.50208	.	.	ENSG00000205754	ENST00000421593	T	0.37584	1.19	2.68	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.42686	1.345	0.80722	D	1	D	0.64830	0.994	D	0.69654	0.965	T	0.42699	-0.9436	10	0.40728	T	0.16	.	12.7175	0.57123	0.0:0.0:1.0:0.0	.	10	G3V0H7	.	K	10	ENSP00000394168:R10K	ENSP00000394168:R10K	R	+	2	0	SLCO1B7	21059925	1.000000	0.71417	0.999000	0.59377	0.168000	0.22595	6.549000	0.73900	1.476000	0.48215	0.407000	0.27541	AGG	SLCO1B7	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000205754		0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	112	0.00	0	G	NM_001009562		21168658	21168658	+1	no_errors	ENST00000421593	ensembl	human	known	69_37n	missense	72	32.08	34	SNP	1.000	A
SLCO1B7	338821	genome.wustl.edu	37	12	21168658	21168658	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr12:21168658G>A	ENST00000421593.2	+	1	29	c.29G>A	c.(28-30)aGg>aAg	p.R10K	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CAAATAGAAAGGAGATTTGAG	0.328																																						dbGAP											0													72.0	73.0	73.0					12																	21168658		2155	4283	6438	-	-	-	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.29G>A	12.37:g.21168658G>A	ENSP00000394168:p.Arg10Lys		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R10K	ENST00000421593.2	37	c.29	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	15.32	2.800045	0.50208	.	.	ENSG00000205754	ENST00000421593	T	0.37584	1.19	2.68	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.42686	1.345	0.80722	D	1	D	0.64830	0.994	D	0.69654	0.965	T	0.42699	-0.9436	10	0.40728	T	0.16	.	12.7175	0.57123	0.0:0.0:1.0:0.0	.	10	G3V0H7	.	K	10	ENSP00000394168:R10K	ENSP00000394168:R10K	R	+	2	0	SLCO1B7	21059925	1.000000	0.71417	0.999000	0.59377	0.168000	0.22595	6.549000	0.73900	1.476000	0.48215	0.407000	0.27541	AGG	SLCO1B7	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000205754		0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	97	0.00	0	G	NM_001009562		21168658	21168658	+1	no_errors	ENST00000421593	ensembl	human	known	69_37n	missense	72	32.08	34	SNP	1.000	A
SUSD2	56241	genome.wustl.edu	37	22	24583622	24583622	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr22:24583622C>G	ENST00000358321.3	+	12	2236	c.1975C>G	c.(1975-1977)Ccc>Gcc	p.P659A		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	659	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CAAGCACGACCCCACCTTCGA	0.567																																						dbGAP											0													161.0	134.0	143.0					22																	24583622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1975C>G	22.37:g.24583622C>G	ENSP00000351075:p.Pro659Ala		Q9H5Y6	Missense_Mutation	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.P659A	ENST00000358321.3	37	c.1975	CCDS13824.1	22	.	.	.	.	.	.	.	.	.	.	C	5.863	0.343424	0.11069	.	.	ENSG00000099994	ENST00000358321	T	0.21191	2.02	4.52	1.14	0.20703	von Willebrand factor, type D domain (1);	1.079850	0.06933	N	0.811370	T	0.13500	0.0327	L	0.35723	1.085	0.32583	N	0.528227	B	0.34372	0.451	B	0.30179	0.112	T	0.36696	-0.9737	10	0.22109	T	0.4	-16.8103	3.6019	0.08028	0.198:0.5911:0.0:0.2109	.	659	Q9UGT4	SUSD2_HUMAN	A	659	ENSP00000351075:P659A	ENSP00000351075:P659A	P	+	1	0	SUSD2	22913622	0.006000	0.16342	0.599000	0.28851	0.903000	0.53119	-0.075000	0.11431	0.433000	0.26313	0.505000	0.49811	CCC	SUSD2	-	NULL	ENSG00000099994		0.567	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	17	0.00	0	C	NM_019601		24583622	24583622	+1	no_errors	ENST00000358321	ensembl	human	known	69_37n	missense	22	71.79	56	SNP	0.734	G
SUSD2	56241	genome.wustl.edu	37	22	24583622	24583622	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr22:24583622C>G	ENST00000358321.3	+	12	2236	c.1975C>G	c.(1975-1977)Ccc>Gcc	p.P659A		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	659	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CAAGCACGACCCCACCTTCGA	0.567																																						dbGAP											0													161.0	134.0	143.0					22																	24583622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1975C>G	22.37:g.24583622C>G	ENSP00000351075:p.Pro659Ala		Q9H5Y6	Missense_Mutation	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.P659A	ENST00000358321.3	37	c.1975	CCDS13824.1	22	.	.	.	.	.	.	.	.	.	.	C	5.863	0.343424	0.11069	.	.	ENSG00000099994	ENST00000358321	T	0.21191	2.02	4.52	1.14	0.20703	von Willebrand factor, type D domain (1);	1.079850	0.06933	N	0.811370	T	0.13500	0.0327	L	0.35723	1.085	0.32583	N	0.528227	B	0.34372	0.451	B	0.30179	0.112	T	0.36696	-0.9737	10	0.22109	T	0.4	-16.8103	3.6019	0.08028	0.198:0.5911:0.0:0.2109	.	659	Q9UGT4	SUSD2_HUMAN	A	659	ENSP00000351075:P659A	ENSP00000351075:P659A	P	+	1	0	SUSD2	22913622	0.006000	0.16342	0.599000	0.28851	0.903000	0.53119	-0.075000	0.11431	0.433000	0.26313	0.505000	0.49811	CCC	SUSD2	-	NULL	ENSG00000099994		0.567	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	30	0.00	0	C	NM_019601		24583622	24583622	+1	no_errors	ENST00000358321	ensembl	human	known	69_37n	missense	22	71.79	56	SNP	0.734	G
TRIM21	6737	genome.wustl.edu	37	11	4409560	4409560	+	Silent	SNP	C	C	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr11:4409560C>T	ENST00000254436.7	-	4	817	c.705G>A	c.(703-705)agG>agA	p.R235R	TRIM21_ENST00000543625.1_Silent_p.R235R	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	235					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AGCTGTGGCACCTTCGATCTA	0.547																																						dbGAP											0													73.0	73.0	73.0					11																	4409560		1980	4166	6146	-	-	-	SO:0001819	synonymous_variant	0			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.705G>A	11.37:g.4409560C>T			Q5XPV5|Q96RF8	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.R235	ENST00000254436.7	37	c.705	CCDS44525.1	11																																																																																			TRIM21	-	NULL	ENSG00000132109		0.547	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	HGNC	protein_coding	OTTHUMT00000385842.1	373	0.00	0	C	NM_003141		4409560	4409560	-1	no_errors	ENST00000254436	ensembl	human	known	69_37n	silent	392	10.23	45	SNP	0.444	T
TRIM21	6737	genome.wustl.edu	37	11	4409560	4409560	+	Silent	SNP	C	C	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr11:4409560C>T	ENST00000254436.7	-	4	817	c.705G>A	c.(703-705)agG>agA	p.R235R	TRIM21_ENST00000543625.1_Silent_p.R235R	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	235					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AGCTGTGGCACCTTCGATCTA	0.547																																						dbGAP											0													73.0	73.0	73.0					11																	4409560		1980	4166	6146	-	-	-	SO:0001819	synonymous_variant	0			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.705G>A	11.37:g.4409560C>T			Q5XPV5|Q96RF8	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.R235	ENST00000254436.7	37	c.705	CCDS44525.1	11																																																																																			TRIM21	-	NULL	ENSG00000132109		0.547	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	HGNC	protein_coding	OTTHUMT00000385842.1	345	0.00	0	C	NM_003141		4409560	4409560	-1	no_errors	ENST00000254436	ensembl	human	known	69_37n	silent	392	10.23	45	SNP	0.444	T
TAF6L	10629	genome.wustl.edu	37	11	62554100	62554100	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	63666721-38a8-46c4-b519-89dba2c58eb1	g.chr11:62554100C>T	ENST00000294168.3	+	11	1402	c.1201C>T	c.(1201-1203)Ctc>Ttc	p.L401F	TMEM179B_ENST00000333449.4_5'Flank|RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_5'Flank	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	401					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GGACAGCCTTCTCTTTCAAGA	0.697											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													15.0	17.0	16.0					11																	62554100		2199	4292	6491	-	-	-	SO:0001583	missense	0			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1201C>T	11.37:g.62554100C>T	ENSP00000294168:p.Leu401Phe	1062	B2RAT0|Q96HA6	Missense_Mutation	SNP	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.L401F	ENST00000294168.3	37	c.1201	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862214	0.51482	.	.	ENSG00000162227	ENST00000294168	T	0.47177	0.85	5.0	4.06	0.47325	.	0.163216	0.29133	N	0.013060	T	0.33760	0.0874	N	0.19112	0.55	0.80722	D	1	P	0.45283	0.855	B	0.41571	0.36	T	0.09292	-1.0681	10	0.32370	T	0.25	-4.149	13.3237	0.60447	0.0:0.8401:0.1599:0.0	.	401	Q9Y6J9	TAF6L_HUMAN	F	401	ENSP00000294168:L401F	ENSP00000294168:L401F	L	+	1	0	TAF6L	62310676	0.996000	0.38824	0.767000	0.31495	0.354000	0.29330	1.700000	0.37815	1.412000	0.46977	0.655000	0.94253	CTC	TAF6L	-	NULL	ENSG00000162227		0.697	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1	28	0.00	0	C	NM_006473		62554100	62554100	+1	no_errors	ENST00000294168	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.999	T
TAF6L	10629	genome.wustl.edu	37	11	62554100	62554100	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr11:62554100C>T	ENST00000294168.3	+	11	1402	c.1201C>T	c.(1201-1203)Ctc>Ttc	p.L401F	TMEM179B_ENST00000333449.4_5'Flank|RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_5'Flank	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	401					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GGACAGCCTTCTCTTTCAAGA	0.697											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													15.0	17.0	16.0					11																	62554100		2199	4292	6491	-	-	-	SO:0001583	missense	0			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1201C>T	11.37:g.62554100C>T	ENSP00000294168:p.Leu401Phe	1062	B2RAT0|Q96HA6	Missense_Mutation	SNP	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.L401F	ENST00000294168.3	37	c.1201	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862214	0.51482	.	.	ENSG00000162227	ENST00000294168	T	0.47177	0.85	5.0	4.06	0.47325	.	0.163216	0.29133	N	0.013060	T	0.33760	0.0874	N	0.19112	0.55	0.80722	D	1	P	0.45283	0.855	B	0.41571	0.36	T	0.09292	-1.0681	10	0.32370	T	0.25	-4.149	13.3237	0.60447	0.0:0.8401:0.1599:0.0	.	401	Q9Y6J9	TAF6L_HUMAN	F	401	ENSP00000294168:L401F	ENSP00000294168:L401F	L	+	1	0	TAF6L	62310676	0.996000	0.38824	0.767000	0.31495	0.354000	0.29330	1.700000	0.37815	1.412000	0.46977	0.655000	0.94253	CTC	TAF6L	-	NULL	ENSG00000162227		0.697	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1	14	0.00	0	C	NM_006473		62554100	62554100	+1	no_errors	ENST00000294168	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.999	T
ZC3H4	23211	genome.wustl.edu	37	19	47570533	47570534	+	Frame_Shift_Ins	INS	-	-	G	rs369502892		TCGA-BH-A0DP-01A-21W-A071-09	TCGA-BH-A0DP-11A-12W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5a83cbfe-1803-42ca-820b-a4045e413f90	5ab7bda1-93fb-4bbe-b6c8-3c40d57dd066	g.chr19:47570533_47570534insG	ENST00000253048.5	-	15	3028_3029	c.2991_2992insC	c.(2989-2994)cccgtgfs	p.V998fs	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	998							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)		GCCGCGGGCACGGGGGGCACTG	0.738																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.2992dupC	19.37:g.47570539_47570539dupG	ENSP00000253048:p.Val998fs		Q9Y420	Frame_Shift_Ins	INS	pfam_Znf_CCCH,smart_Znf_CCCH	p.V997fs	ENST00000253048.5	37	c.2992_2991	CCDS42582.1	19																																																																																			ZC3H4	-	NULL	ENSG00000130749		0.738	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZC3H4	HGNC	protein_coding	OTTHUMT00000466667.1	14	0.00	0	-			47570533	47570534	-1	no_errors	ENST00000253048	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.128:0.006	G
