#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
BRPF1	7862	genome.wustl.edu	37	3	9781112	9781113	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr3:9781112_9781113delAG	ENST00000457855.1	+	2	1040_1041	c.1029_1030delAG	c.(1027-1032)acagatfs	p.D345fs	BRPF1_ENST00000424362.1_Frame_Shift_Del_p.D345fs|BRPF1_ENST00000383829.2_Frame_Shift_Del_p.D345fs|BRPF1_ENST00000302054.3_Frame_Shift_Del_p.D345fs|BRPF1_ENST00000433861.2_Frame_Shift_Del_p.D345fs			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	345					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TCAAGCAGACAGATGACGGGCG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1029_1030delAG	3.37:g.9781112_9781113delAG	ENSP00000410210:p.Asp345fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Frame_Shift_Del	DEL	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,prints_Bromodomain,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain	p.D344fs	ENST00000457855.1	37	c.1029_1030	CCDS2575.1	3																																																																																			BRPF1	-	NULL	ENSG00000156983		0.609	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	37	0.00	0	AG	NM_001003694		9781112	9781113	+1	no_errors	ENST00000383829	ensembl	human	known	69_37n	frame_shift_del	18	25.00	6	DEL	0.841:1.000	-
BRPF1	7862	genome.wustl.edu	37	3	9781112	9781113	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr3:9781112_9781113delAG	ENST00000457855.1	+	2	1040_1041	c.1029_1030delAG	c.(1027-1032)acagatfs	p.D345fs	BRPF1_ENST00000424362.1_Frame_Shift_Del_p.D345fs|BRPF1_ENST00000383829.2_Frame_Shift_Del_p.D345fs|BRPF1_ENST00000302054.3_Frame_Shift_Del_p.D345fs|BRPF1_ENST00000433861.2_Frame_Shift_Del_p.D345fs			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	345					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TCAAGCAGACAGATGACGGGCG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1029_1030delAG	3.37:g.9781112_9781113delAG	ENSP00000410210:p.Asp345fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Frame_Shift_Del	DEL	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,prints_Bromodomain,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain	p.D344fs	ENST00000457855.1	37	c.1029_1030	CCDS2575.1	3																																																																																			BRPF1	-	NULL	ENSG00000156983		0.609	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	37	0.00	0	AG	NM_001003694		9781112	9781113	+1	no_errors	ENST00000383829	ensembl	human	known	69_37n	frame_shift_del	15	28.57	6	DEL	0.841:1.000	-
ARHGEF26	26084	genome.wustl.edu	37	3	153840379	153840379	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr3:153840379C>T	ENST00000356448.4	+	2	882	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.R200W|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.R200W	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	200					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GGACCCCGAACGGGGGCTCTT	0.607																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	dbGAP											0													21.0	23.0	23.0					3																	153840379		1816	4075	5891	-	-	-	SO:0001583	missense	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.598C>T	3.37:g.153840379C>T	ENSP00000348828:p.Arg200Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R200W	ENST00000356448.4	37	c.598	CCDS46938.1	3	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774402	0.31411	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.58358	0.34;0.34;2.14	4.83	2.81	0.32909	.	0.814889	0.11088	N	0.601076	T	0.40498	0.1119	N	0.24115	0.695	0.09310	N	1	D;D	0.56287	0.975;0.975	B;B	0.40565	0.23;0.333	T	0.29549	-1.0008	10	0.72032	D	0.01	-0.2535	14.2336	0.65911	0.3116:0.6884:0.0:0.0	.	200;200	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	W	200	ENSP00000348828:R200W;ENSP00000423418:R200W;ENSP00000423295:R200W	ENSP00000348828:R200W	R	+	1	2	ARHGEF26	155323069	0.000000	0.05858	0.001000	0.08648	0.116000	0.19942	-0.483000	0.06536	1.006000	0.39211	-0.268000	0.10319	CGG	ARHGEF26	-	NULL	ENSG00000114790		0.607	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3	13	0.00	0	C	NM_015595		153840379	153840379	+1	no_errors	ENST00000356448	ensembl	human	known	69_37n	missense	26	59.38	38	SNP	0.000	T
CAPN2	824	genome.wustl.edu	37	1	223933013	223933013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr1:223933013G>A	ENST00000295006.5	+	4	741	c.432G>A	c.(430-432)tgG>tgA	p.W144*	CAPN2_ENST00000433674.2_Nonsense_Mutation_p.W66*	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	144	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TGCAGTTCTGGCAATACGGCG	0.622																																						dbGAP											0													62.0	59.0	60.0					1																	223933013		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.432G>A	1.37:g.223933013G>A	ENSP00000295006:p.Trp144*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Nonsense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat	p.W144*	ENST00000295006.5	37	c.432	CCDS31035.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016842	0.93404	.	.	ENSG00000162909	ENST00000433674;ENST00000434648;ENST00000295006;ENST00000366869	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4207	0.94720	0.0:0.0:1.0:0.0	.	.	.	.	X	66;66;144;173	.	ENSP00000295006:W144X	W	+	3	0	CAPN2	221999636	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	9.744000	0.98853	2.567000	0.86603	0.544000	0.68410	TGG	CAPN2	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat	ENSG00000162909		0.622	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	74	0.00	0	G	NM_001748		223933013	223933013	+1	no_errors	ENST00000295006	ensembl	human	known	69_37n	nonsense	33	10.81	4	SNP	1.000	A
CARD8	22900	genome.wustl.edu	37	19	48715046	48715046	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr19:48715046A>T	ENST00000359009.4	-	10	1529	c.1217T>A	c.(1216-1218)cTg>cAg	p.L406Q	CARD8_ENST00000447740.2_Missense_Mutation_p.L462Q|CARD8_ENST00000391898.3_Missense_Mutation_p.L512Q|CARD8_ENST00000521613.1_Missense_Mutation_p.L462Q|CARD8_ENST00000519940.1_Missense_Mutation_p.L512Q|CARD8_ENST00000357778.5_Intron|CTC-453G23.8_ENST00000595201.1_RNA|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_3'UTR|CARD8_ENST00000520153.1_Missense_Mutation_p.L462Q|CARD8_ENST00000520753.1_3'UTR			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	406	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GTCCAGGGCCAGGTCCCCTTT	0.493																																						dbGAP											0													273.0	257.0	262.0					19																	48715046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.1217T>A	19.37:g.48715046A>T	ENSP00000351901:p.Leu406Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.L512Q	ENST00000359009.4	37	c.1535		19	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.019110	0.00418	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520153;ENST00000521613;ENST00000519940	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	1.86	-3.72	0.04411	DEATH-like (2);Caspase Recruitment (3);	.	.	.	.	T	0.04770	0.0129	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.002;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.10567	-1.0624	9	0.13108	T	0.6	.	1.6601	0.02790	0.1545:0.3394:0.3242:0.1819	.	431;512;462;406	B5KVR7;E9PEM7;G3XAM9;Q9Y2G2	.;.;.;CARD8_HUMAN	Q	462;512;406;462;462;512	ENSP00000391248:L462Q;ENSP00000375767:L512Q;ENSP00000351901:L406Q;ENSP00000428736:L462Q;ENSP00000427858:L462Q;ENSP00000428883:L512Q	ENSP00000351901:L406Q	L	-	2	0	CARD8	53406858	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.597000	0.00894	-5.105000	0.00021	-3.437000	0.00037	CTG	CARD8	-	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	ENSG00000105483		0.493	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	CARD8	HGNC	protein_coding		72	0.00	0	A	NM_014959		48715046	48715046	-1	no_errors	ENST00000391898	ensembl	human	known	69_37n	missense	74	24.49	24	SNP	0.000	T
CARD8	22900	genome.wustl.edu	37	19	48715046	48715046	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr19:48715046A>T	ENST00000359009.4	-	10	1529	c.1217T>A	c.(1216-1218)cTg>cAg	p.L406Q	CARD8_ENST00000447740.2_Missense_Mutation_p.L462Q|CARD8_ENST00000391898.3_Missense_Mutation_p.L512Q|CARD8_ENST00000521613.1_Missense_Mutation_p.L462Q|CARD8_ENST00000519940.1_Missense_Mutation_p.L512Q|CARD8_ENST00000357778.5_Intron|CTC-453G23.8_ENST00000595201.1_RNA|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_3'UTR|CARD8_ENST00000520153.1_Missense_Mutation_p.L462Q|CARD8_ENST00000520753.1_3'UTR			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	406	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GTCCAGGGCCAGGTCCCCTTT	0.493																																						dbGAP											0													273.0	257.0	262.0					19																	48715046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.1217T>A	19.37:g.48715046A>T	ENSP00000351901:p.Leu406Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.L512Q	ENST00000359009.4	37	c.1535		19	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.019110	0.00418	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520153;ENST00000521613;ENST00000519940	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	1.86	-3.72	0.04411	DEATH-like (2);Caspase Recruitment (3);	.	.	.	.	T	0.04770	0.0129	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.002;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.10567	-1.0624	9	0.13108	T	0.6	.	1.6601	0.02790	0.1545:0.3394:0.3242:0.1819	.	431;512;462;406	B5KVR7;E9PEM7;G3XAM9;Q9Y2G2	.;.;.;CARD8_HUMAN	Q	462;512;406;462;462;512	ENSP00000391248:L462Q;ENSP00000375767:L512Q;ENSP00000351901:L406Q;ENSP00000428736:L462Q;ENSP00000427858:L462Q;ENSP00000428883:L512Q	ENSP00000351901:L406Q	L	-	2	0	CARD8	53406858	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.597000	0.00894	-5.105000	0.00021	-3.437000	0.00037	CTG	CARD8	-	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	ENSG00000105483		0.493	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	CARD8	HGNC	protein_coding		72	0.00	0	A	NM_014959		48715046	48715046	-1	no_errors	ENST00000391898	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	0.000	T
CNNM2	54805	genome.wustl.edu	37	10	104679434	104679434	+	Silent	SNP	C	C	T			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr10:104679434C>T	ENST00000369878.4	+	1	1385	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	CNNM2_ENST00000369875.3_Silent_p.C399C|CNNM2_ENST00000433628.2_Silent_p.C399C	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	399	DUF21.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGCTGGACTGCGTCCTGGGCC	0.577																																						dbGAP											0													84.0	85.0	85.0					10																	104679434		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1197C>T	10.37:g.104679434C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.C399	ENST00000369878.4	37	c.1197	CCDS44474.1	10																																																																																			CNNM2	-	pfam_DUF21	ENSG00000148842		0.577	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	47	0.00	0	C	NM_017649		104679434	104679434	+1	no_errors	ENST00000457502	ensembl	human	known	69_37n	silent	12	40.00	8	SNP	1.000	T
CNNM2	54805	genome.wustl.edu	37	10	104679434	104679434	+	Silent	SNP	C	C	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr10:104679434C>T	ENST00000369878.4	+	1	1385	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	CNNM2_ENST00000369875.3_Silent_p.C399C|CNNM2_ENST00000433628.2_Silent_p.C399C	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	399	DUF21.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGCTGGACTGCGTCCTGGGCC	0.577																																						dbGAP											0													84.0	85.0	85.0					10																	104679434		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1197C>T	10.37:g.104679434C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.C399	ENST00000369878.4	37	c.1197	CCDS44474.1	10																																																																																			CNNM2	-	pfam_DUF21	ENSG00000148842		0.577	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	47	0.00	0	C	NM_017649		104679434	104679434	+1	no_errors	ENST00000457502	ensembl	human	known	69_37n	silent	12	33.33	6	SNP	1.000	T
CNTNAP3	79937	genome.wustl.edu	37	9	39085796	39085796	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr9:39085796C>T	ENST00000297668.6	-	21	3452	c.3379G>A	c.(3379-3381)Gtc>Atc	p.V1127I	CNTNAP3_ENST00000358144.2_3'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.V1046I	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1127	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GACAAGATGACTTGTTTCTTT	0.388																																						dbGAP											0													79.0	102.0	94.0					9																	39085796		2175	4243	6418	-	-	-	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3379G>A	9.37:g.39085796C>T	ENSP00000297668:p.Val1127Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V1127I	ENST00000297668.6	37	c.3379	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436355	0.25813	.	.	ENSG00000106714	ENST00000297668;ENST00000377656	T;T	0.77489	-1.1;-1.1	3.28	2.37	0.29283	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.63815	0.2543	L	0.46157	1.445	0.80722	D	1	B;B	0.26445	0.149;0.022	B;B	0.23018	0.043;0.035	T	0.55667	-0.8105	9	0.30854	T	0.27	.	2.1649	0.03834	0.1957:0.4956:0.1913:0.1175	.	1046;1127	A6NC89;Q9BZ76	.;CNTP3_HUMAN	I	1127;1046	ENSP00000297668:V1127I;ENSP00000366884:V1046I	ENSP00000297668:V1127I	V	-	1	0	CNTNAP3	39075796	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	2.870000	0.48451	0.707000	0.31934	0.485000	0.47835	GTC	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.388	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	87	0.00	0	C	NM_033655		39085796	39085796	-1	no_errors	ENST00000297668	ensembl	human	known	69_37n	missense	31	34.04	16	SNP	0.994	T
CNTNAP3	79937	genome.wustl.edu	37	9	39085796	39085796	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr9:39085796C>T	ENST00000297668.6	-	21	3452	c.3379G>A	c.(3379-3381)Gtc>Atc	p.V1127I	CNTNAP3_ENST00000358144.2_3'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.V1046I	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1127	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GACAAGATGACTTGTTTCTTT	0.388																																						dbGAP											0													79.0	102.0	94.0					9																	39085796		2175	4243	6418	-	-	-	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3379G>A	9.37:g.39085796C>T	ENSP00000297668:p.Val1127Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V1127I	ENST00000297668.6	37	c.3379	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436355	0.25813	.	.	ENSG00000106714	ENST00000297668;ENST00000377656	T;T	0.77489	-1.1;-1.1	3.28	2.37	0.29283	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.63815	0.2543	L	0.46157	1.445	0.80722	D	1	B;B	0.26445	0.149;0.022	B;B	0.23018	0.043;0.035	T	0.55667	-0.8105	9	0.30854	T	0.27	.	2.1649	0.03834	0.1957:0.4956:0.1913:0.1175	.	1046;1127	A6NC89;Q9BZ76	.;CNTP3_HUMAN	I	1127;1046	ENSP00000297668:V1127I;ENSP00000366884:V1046I	ENSP00000297668:V1127I	V	-	1	0	CNTNAP3	39075796	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	2.870000	0.48451	0.707000	0.31934	0.485000	0.47835	GTC	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.388	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	87	0.00	0	C	NM_033655		39085796	39085796	-1	no_errors	ENST00000297668	ensembl	human	known	69_37n	missense	187	31.75	87	SNP	0.994	T
CSHL1	1444	genome.wustl.edu	37	17	61988159	61988159	+	Missense_Mutation	SNP	C	C	T	rs199647188		TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr17:61988159C>T	ENST00000309894.5	-	2	135	c.136G>A	c.(136-138)Gca>Aca	p.A46T	CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000392824.4_Missense_Mutation_p.A46T|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	46						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						AGCTGGTGTGCGCGATGGGCT	0.577																																						dbGAP											0													92.0	98.0	96.0					17																	61988159		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.136G>A	17.37:g.61988159C>T	ENSP00000309524:p.Ala46Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.A46T	ENST00000309894.5	37	c.136	CCDS11652.1	17	.	.	.	.	.	.	.	.	.	.	c	8.086	0.773408	0.16051	.	.	ENSG00000204414	ENST00000309894;ENST00000259003;ENST00000450719;ENST00000392824	D;D	0.90261	-2.64;-2.39	2.84	1.85	0.25348	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.213987	0.40818	N	0.001009	T	0.80308	0.4599	N	0.22421	0.69	0.09310	N	0.999996	P;B;B	0.39250	0.665;0.006;0.011	B;B;B	0.33690	0.168;0.005;0.005	T	0.73173	-0.4066	10	0.87932	D	0	.	7.7316	0.28789	0.0:0.2661:0.7339:0.0	.	46;46;46	B7Z6E9;Q14406;Q14406-2	.;CSHL_HUMAN;.	T	46	ENSP00000309524:A46T;ENSP00000376569:A46T	ENSP00000259003:A46T	A	-	1	0	GH1	59341891	1.000000	0.71417	0.998000	0.56505	0.001000	0.01503	1.567000	0.36407	0.522000	0.28464	-0.731000	0.03576	GCA	CSHL1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	ENSG00000204414		0.577	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	CSHL1	HGNC	protein_coding	OTTHUMT00000444557.1	61	0.00	0	C	NM_022579		61988159	61988159	-1	no_errors	ENST00000309894	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	1.000	T
CSHL1	1444	genome.wustl.edu	37	17	61988159	61988159	+	Missense_Mutation	SNP	C	C	T	rs199647188		TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr17:61988159C>T	ENST00000309894.5	-	2	135	c.136G>A	c.(136-138)Gca>Aca	p.A46T	CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000392824.4_Missense_Mutation_p.A46T|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	46						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						AGCTGGTGTGCGCGATGGGCT	0.577																																						dbGAP											0													92.0	98.0	96.0					17																	61988159		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.136G>A	17.37:g.61988159C>T	ENSP00000309524:p.Ala46Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.A46T	ENST00000309894.5	37	c.136	CCDS11652.1	17	.	.	.	.	.	.	.	.	.	.	c	8.086	0.773408	0.16051	.	.	ENSG00000204414	ENST00000309894;ENST00000259003;ENST00000450719;ENST00000392824	D;D	0.90261	-2.64;-2.39	2.84	1.85	0.25348	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.213987	0.40818	N	0.001009	T	0.80308	0.4599	N	0.22421	0.69	0.09310	N	0.999996	P;B;B	0.39250	0.665;0.006;0.011	B;B;B	0.33690	0.168;0.005;0.005	T	0.73173	-0.4066	10	0.87932	D	0	.	7.7316	0.28789	0.0:0.2661:0.7339:0.0	.	46;46;46	B7Z6E9;Q14406;Q14406-2	.;CSHL_HUMAN;.	T	46	ENSP00000309524:A46T;ENSP00000376569:A46T	ENSP00000259003:A46T	A	-	1	0	GH1	59341891	1.000000	0.71417	0.998000	0.56505	0.001000	0.01503	1.567000	0.36407	0.522000	0.28464	-0.731000	0.03576	GCA	CSHL1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	ENSG00000204414		0.577	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	CSHL1	HGNC	protein_coding	OTTHUMT00000444557.1	61	0.00	0	C	NM_022579		61988159	61988159	-1	no_errors	ENST00000309894	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	T
CSRNP3	80034	genome.wustl.edu	37	2	166532860	166532860	+	Silent	SNP	C	C	T			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr2:166532860C>T	ENST00000342316.4	+	4	719	c.447C>T	c.(445-447)agC>agT	p.S149S	CSRNP3_ENST00000409420.1_Silent_p.S181S|CSRNP3_ENST00000314499.7_Silent_p.S149S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	149					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AAGAAGCCAGCACTCTTACAC	0.393																																						dbGAP											0													194.0	200.0	198.0					2																	166532860		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.447C>T	2.37:g.166532860C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	prints_Cys/Ser-rich_nuc_prot	p.S149	ENST00000342316.4	37	c.447	CCDS2225.1	2																																																																																			CSRNP3	-	NULL	ENSG00000178662		0.393	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	HGNC	protein_coding	OTTHUMT00000255191.2	17	0.00	0	C	NM_024969		166532860	166532860	+1	no_errors	ENST00000314499	ensembl	human	known	69_37n	silent	7	50.00	7	SNP	1.000	T
CSRNP3	80034	genome.wustl.edu	37	2	166532860	166532860	+	Silent	SNP	C	C	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr2:166532860C>T	ENST00000342316.4	+	4	719	c.447C>T	c.(445-447)agC>agT	p.S149S	CSRNP3_ENST00000409420.1_Silent_p.S181S|CSRNP3_ENST00000314499.7_Silent_p.S149S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	149					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AAGAAGCCAGCACTCTTACAC	0.393																																						dbGAP											0													194.0	200.0	198.0					2																	166532860		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.447C>T	2.37:g.166532860C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	prints_Cys/Ser-rich_nuc_prot	p.S149	ENST00000342316.4	37	c.447	CCDS2225.1	2																																																																																			CSRNP3	-	NULL	ENSG00000178662		0.393	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	HGNC	protein_coding	OTTHUMT00000255191.2	17	0.00	0	C	NM_024969		166532860	166532860	+1	no_errors	ENST00000314499	ensembl	human	known	69_37n	silent	20	25.93	7	SNP	1.000	T
DCST2	127579	genome.wustl.edu	37	1	154996080	154996080	+	Intron	DEL	C	C	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr1:154996080delC	ENST00000368424.3	-	13	1929				DCST2_ENST00000295536.5_Frame_Shift_Del_p.W629fs	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2							integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGCTGCAATGCCACTTGCATA	0.498																																						dbGAP											0													85.0	81.0	82.0					1																	154996080		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1871-147G>-	1.37:g.154996080delC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2R2|Q8N810|Q96M03	Frame_Shift_Del	DEL	pfam_DC_STAMP-like	p.W629fs	ENST00000368424.3	37	c.1887	CCDS1082.2	1																																																																																			DCST2	-	NULL	ENSG00000163354		0.498	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	58	0.00	0	C	NM_144622		154996080	154996080	-1	no_errors	ENST00000295536	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	0.001	-
DDX26B	203522	genome.wustl.edu	37	X	134680717	134680717	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chrX:134680717C>T	ENST00000370752.4	+	5	854	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	174	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGTGTTGCGTTTGCCTGG	0.488																																						dbGAP											0													138.0	112.0	121.0					X																	134680717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.520C>T	X.37:g.134680717C>T	ENSP00000359788:p.Arg174Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.R174C	ENST00000370752.4	37	c.520	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182356	0.57800	.	.	ENSG00000165359	ENST00000370752	T	0.14144	2.53	5.27	5.27	0.74061	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55970	-0.8056	10	0.87932	D	0	-2.7446	16.9486	0.86237	0.0:1.0:0.0:0.0	.	174	Q5JSJ4	DX26B_HUMAN	C	174	ENSP00000359788:R174C	ENSP00000359788:R174C	R	+	1	0	DDX26B	134508383	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.867000	0.63013	2.209000	0.71365	0.523000	0.50628	CGT	DDX26B	-	pfscan_VWF_A	ENSG00000165359		0.488	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	108	0.00	0	C	NM_182540		134680717	134680717	+1	no_errors	ENST00000370752	ensembl	human	known	69_37n	missense	31	60.26	47	SNP	1.000	T
DDX26B	203522	genome.wustl.edu	37	X	134680717	134680717	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chrX:134680717C>T	ENST00000370752.4	+	5	854	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	174	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGTGTTGCGTTTGCCTGG	0.488																																						dbGAP											0													138.0	112.0	121.0					X																	134680717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.520C>T	X.37:g.134680717C>T	ENSP00000359788:p.Arg174Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.R174C	ENST00000370752.4	37	c.520	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182356	0.57800	.	.	ENSG00000165359	ENST00000370752	T	0.14144	2.53	5.27	5.27	0.74061	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55970	-0.8056	10	0.87932	D	0	-2.7446	16.9486	0.86237	0.0:1.0:0.0:0.0	.	174	Q5JSJ4	DX26B_HUMAN	C	174	ENSP00000359788:R174C	ENSP00000359788:R174C	R	+	1	0	DDX26B	134508383	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.867000	0.63013	2.209000	0.71365	0.523000	0.50628	CGT	DDX26B	-	pfscan_VWF_A	ENSG00000165359		0.488	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	108	0.00	0	C	NM_182540		134680717	134680717	+1	no_errors	ENST00000370752	ensembl	human	known	69_37n	missense	9	55.00	11	SNP	1.000	T
DDX50	79009	genome.wustl.edu	37	10	70679674	70679676	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	TAT	TAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr10:70679674_70679676delTAT	ENST00000373585.3	+	8	1283_1285	c.1176_1178delTAT	c.(1174-1179)gctatt>gct	p.I394del	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	394	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAGGGAGGGCTATTATTTTCTGT	0.399																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1176_1178delTAT	10.37:g.70679677_70679679delTAT	ENSP00000362687:p.Ile394del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX37|Q8WV76|Q9BWI8	In_Frame_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I394in_frame_del	ENST00000373585.3	37	c.1176_1178	CCDS7283.1	10																																																																																			DDX50	-	pfscan_Helicase_C	ENSG00000107625		0.399	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	58	0.00	0	TAT	NM_024045		70679674	70679676	+1	no_errors	ENST00000373585	ensembl	human	known	69_37n	in_frame_del	28	12.50	4	DEL	1.000:1.000:1.000	-
DIAPH3	81624	genome.wustl.edu	37	13	60485904	60485904	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr13:60485904delT	ENST00000400324.4	-	20	2552	c.2332delA	c.(2332-2334)agcfs	p.S778fs	DIAPH3_ENST00000400330.1_Frame_Shift_Del_p.S778fs|DIAPH3_ENST00000377908.2_Frame_Shift_Del_p.S767fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Frame_Shift_Del_p.S732fs|DIAPH3_ENST00000400319.1_Frame_Shift_Del_p.S708fs|DIAPH3_ENST00000267215.4_Frame_Shift_Del_p.S778fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	778	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CATAAGTTGCTATATTCACTC	0.353																																						dbGAP											0													90.0	83.0	85.0					13																	60485904		1855	4112	5967	-	-	-	SO:0001589	frameshift_variant	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2332delA	13.37:g.60485904delT	ENSP00000383178:p.Ser778fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Del	DEL	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.S778fs	ENST00000400324.4	37	c.2332	CCDS41898.1	13																																																																																			DIAPH3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000139734		0.353	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	56	0.00	0	T	NM_001042517		60485904	60485904	-1	no_errors	ENST00000400324	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
DKC1	1736	genome.wustl.edu	37	X	153993226	153993228	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chrX:153993226_153993228delAGA	ENST00000369550.5	+	2	279_281	c.69_71delAGA	c.(67-72)ccagaa>cca	p.E25del		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	25					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGTCATTGCCAGAAGAAGATGTA	0.315									Congenital Dyskeratosis																													dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.69_71delAGA	X.37:g.153993232_153993234delAGA	ENSP00000358563:p.Glu25del	Somatic		WXS	Illumina GAIIx	Phase_IV	F5BSB3|O43845|Q96G67|Q9Y505	In_Frame_Del	DEL	pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451	p.E25in_frame_del	ENST00000369550.5	37	c.69_71	CCDS14761.1	X																																																																																			DKC1	-	NULL	ENSG00000130826		0.315	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5	147	0.00	0	AGA	NM_001363		153993226	153993228	+1	no_errors	ENST00000369550	ensembl	human	known	69_37n	in_frame_del	85	12.24	12	DEL	0.070:0.944:0.966	-
DKC1	1736	genome.wustl.edu	37	X	153993226	153993228	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chrX:153993226_153993228delAGA	ENST00000369550.5	+	2	279_281	c.69_71delAGA	c.(67-72)ccagaa>cca	p.E25del		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	25					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGTCATTGCCAGAAGAAGATGTA	0.315									Congenital Dyskeratosis																													dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.69_71delAGA	X.37:g.153993232_153993234delAGA	ENSP00000358563:p.Glu25del	Somatic		WXS	Illumina GAIIx	Phase_IV	F5BSB3|O43845|Q96G67|Q9Y505	In_Frame_Del	DEL	pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451	p.E25in_frame_del	ENST00000369550.5	37	c.69_71	CCDS14761.1	X																																																																																			DKC1	-	NULL	ENSG00000130826		0.315	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5	147	0.00	0	AGA	NM_001363		153993226	153993228	+1	no_errors	ENST00000369550	ensembl	human	known	69_37n	in_frame_del	78	11.36	10	DEL	0.070:0.944:0.966	-
DMXL2	23312	genome.wustl.edu	37	15	51766573	51766575	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	ACA	ACA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr15:51766573_51766575delACA	ENST00000251076.5	-	28	7463_7465	c.7176_7178delTGT	c.(7174-7179)gttgtg>gtg	p.2392_2393VV>V	DMXL2_ENST00000449909.3_In_Frame_Del_p.1756_1757VV>V|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_In_Frame_Del_p.2393_2394VV>V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2392						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCGAGGTTTCACAACAAGTTTTA	0.35																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7176_7178delTGT	15.37:g.51766576_51766578delACA	ENSP00000251076:p.Val2393del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	In_Frame_Del	DEL	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V2394in_frame_del	ENST00000251076.5	37	c.7181_7179	CCDS10141.1	15																																																																																			DMXL2	-	NULL	ENSG00000104093		0.350	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	29	0.00	0	ACA	NM_015263		51766573	51766575	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	in_frame_del	17	15.00	3	DEL	1.000:1.000:0.993	-
DMXL2	23312	genome.wustl.edu	37	15	51766573	51766575	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	ACA	ACA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr15:51766573_51766575delACA	ENST00000251076.5	-	28	7463_7465	c.7176_7178delTGT	c.(7174-7179)gttgtg>gtg	p.2392_2393VV>V	DMXL2_ENST00000449909.3_In_Frame_Del_p.1756_1757VV>V|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_In_Frame_Del_p.2393_2394VV>V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2392						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCGAGGTTTCACAACAAGTTTTA	0.35																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7176_7178delTGT	15.37:g.51766576_51766578delACA	ENSP00000251076:p.Val2393del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	In_Frame_Del	DEL	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V2394in_frame_del	ENST00000251076.5	37	c.7181_7179	CCDS10141.1	15																																																																																			DMXL2	-	NULL	ENSG00000104093		0.350	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	29	0.00	0	ACA	NM_015263		51766573	51766575	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	in_frame_del	14	17.65	3	DEL	1.000:1.000:0.993	-
DNAH11	8701	genome.wustl.edu	37	7	21745090	21745090	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:21745090G>C	ENST00000409508.3	+	39	6512	c.6481G>C	c.(6481-6483)Gag>Cag	p.E2161Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.E2168Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2168	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTCCAGCTTGAGGAACTGTT	0.438									Kartagener syndrome																													dbGAP											0													81.0	85.0	84.0					7																	21745090		1928	4145	6073	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6481G>C	7.37:g.21745090G>C	ENSP00000475939:p.Glu2161Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E2168Q	ENST00000409508.3	37	c.6502		7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981746	0.74474	.	.	ENSG00000105877	ENST00000328843	T	0.23147	1.92	5.62	4.72	0.59763	.	0.156891	0.56097	N	0.000034	T	0.50137	0.1598	.	.	.	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	T	0.48843	-0.8999	9	0.34782	T	0.22	.	16.3088	0.82862	0.0:0.1328:0.8671:0.0	.	2168	Q96DT5	DYH11_HUMAN	Q	2168	ENSP00000330671:E2168Q	ENSP00000330671:E2168Q	E	+	1	0	DNAH11	21711615	1.000000	0.71417	0.945000	0.38365	0.889000	0.51656	6.214000	0.72200	1.470000	0.48102	0.650000	0.86243	GAG	DNAH11	-	NULL	ENSG00000105877		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	46	0.00	0	G	NM_003777		21745090	21745090	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	65	13.33	10	SNP	1.000	C
DNAJB12	54788	genome.wustl.edu	37	10	74103268	74103268	+	Splice_Site	DEL	C	C	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr10:74103268delC	ENST00000444643.2	-	3	645	c.313delG	c.(313-315)gtc>tc	p.V105fs	DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000338820.3_Splice_Site_p.V139fs|DNAJB12_ENST00000394903.2_Splice_Site_p.V139fs			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	105						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						CATTGCTTGACCCTGGGGAAG	0.597																																						dbGAP											0													88.0	85.0	86.0					10																	74103268		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.312-1G>-	10.37:g.74103268delC		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7I3|Q9H6H0	Frame_Shift_Del	DEL	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.V139fs	ENST00000444643.2	37	c.415		10																																																																																			DNAJB12	-	superfamily_DnaJ_N	ENSG00000148719		0.597	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	DNAJB12	HGNC	protein_coding	OTTHUMT00000048581.2	55	0.00	0	C		Frame_Shift_Del	74103268	74103268	-1	no_errors	ENST00000338820	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
EXOC6	54536	genome.wustl.edu	37	10	94654759	94654760	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr10:94654759_94654760insA	ENST00000260762.6	+	4	408_409	c.394_395insA	c.(394-396)ttgfs	p.L132fs	EXOC6_ENST00000371547.4_Frame_Shift_Ins_p.L148fs|EXOC6_ENST00000443748.2_Frame_Shift_Ins_p.L132fs|EXOC6_ENST00000371552.4_Frame_Shift_Ins_p.L127fs|EXOC6_ENST00000371543.1_Frame_Shift_Ins_p.L132fs	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	132					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGTAGAAAAATTGCAGTTATGC	0.322																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	Exception_encountered	10.37:g.94654759_94654760insA	ENSP00000260762:p.Leu132fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PHI3|Q5VXH8|Q9NZ24	Frame_Shift_Ins	INS	pfam_Sec15,pirsf_Sec15	p.L148fs	ENST00000260762.6	37	c.442_443	CCDS7424.2	10																																																																																			EXOC6	-	pirsf_Sec15	ENSG00000138190		0.322	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	83	0.00	0	-	NM_019053		94654759	94654760	+1	no_errors	ENST00000371547	ensembl	human	known	69_37n	frame_shift_ins	24	17.24	5	INS	1.000:1.000	A
FAM182B	728882	genome.wustl.edu	37	20	25755549	25755549	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr20:25755549C>A	ENST00000376403.1	-	3	785	c.407G>T	c.(406-408)gGc>gTc	p.G136V	FAM182B_ENST00000478164.1_Intron|FAM182B_ENST00000376404.2_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	136										lung(1)	1						TGGTCTGCAGCCTTCCTGGGA	0.716																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.407G>T	20.37:g.25755549C>A	ENSP00000365585:p.Gly136Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0Q1	Missense_Mutation	SNP	NULL	p.G136V	ENST00000376403.1	37	c.407		20	.	.	.	.	.	.	.	.	.	.	.	1.024	-0.684035	0.03353	.	.	ENSG00000175170	ENST00000376403	.	.	.	.	.	.	.	.	.	.	.	T	0.39064	0.1064	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.39187	-0.9626	3	0.87932	D	0	.	.	.	.	.	.	.	.	V	136	.	ENSP00000365585:G136V	G	-	2	0	FAM182B	25703549	0.129000	0.22400	0.158000	0.22627	0.158000	0.22134	-0.337000	0.07852	0.064000	0.16427	0.064000	0.15345	GGC	FAM182B	-	NULL	ENSG00000175170		0.716	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	FAM182B	HGNC	protein_coding	OTTHUMT00000078463.2	8	0.00	0	C	NR_026714		25755549	25755549	-1	no_errors	ENST00000376403	ensembl	human	putative	69_37n	missense	7	41.67	5	SNP	0.159	A
FAM86B2	653333	genome.wustl.edu	37	8	12285132	12285132	+	Intron	SNP	C	C	G	rs201597864	byFrequency	TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr8:12285132C>G	ENST00000262365.4	-	7	892				FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Missense_Mutation_p.C81S|FAM86B2_ENST00000309608.5_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2									p.C81S(4)		endometrium(1)|kidney(2)	3						ACAGCTCGGGCACCATGTAGG	0.622													c|||	1566	0.3127	0.4448	0.2277	5008	,	,		8710	0.3423		0.2853	False		,,,				2504	0.1922					dbGAP											4	Substitution - Missense(4)	kidney(2)|endometrium(2)																																								-	-	-	SO:0001627	intron_variant	0				CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.892+33G>C	8.37:g.12285132C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.C81S	ENST00000262365.4	37	c.242	CCDS59092.1	8	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.667406	0.00765	.	.	ENSG00000145002	ENST00000393715	T	0.30182	1.54	0.634	-0.466	0.12153	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.32214	-0.9915	4	0.08837	T	0.75	.	.	.	.	.	.	.	.	S	81	ENSP00000377318:C81S	ENSP00000377318:C81S	C	-	2	0	FAM86B2	12329503	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.600000	0.05693	-1.610000	0.01583	-1.920000	0.00515	TGC	FAM86B2	-	NULL	ENSG00000145002		0.622	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86B2	HGNC	protein_coding		13	0.00	0	C	XM_928336		12285132	12285132	-1	no_errors	ENST00000393715	ensembl	human	known	69_37n	missense	1	75.00	3	SNP	0.001	G
FANCM	57697	genome.wustl.edu	37	14	45636186	45636187	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr14:45636186_45636187insT	ENST00000267430.5	+	11	1907_1908	c.1822_1823insT	c.(1822-1824)atafs	p.I608fs	FANCM_ENST00000542564.2_Frame_Shift_Ins_p.I582fs|FANCM_ENST00000556036.1_Frame_Shift_Ins_p.I608fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	608	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAAAAGAAGTATATATAAAGCT	0.297								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1823dupT	14.37:g.45636187_45636187dupT	ENSP00000267430:p.Ile608fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Ins	INS	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y609fs	ENST00000267430.5	37	c.1822_1823	CCDS32070.1	14																																																																																			FANCM	-	pfscan_Helicase_C	ENSG00000187790		0.297	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	38	0.00	0	-	XM_048128		45636186	45636187	+1	no_errors	ENST00000267430	ensembl	human	known	69_37n	frame_shift_ins	18	14.29	3	INS	0.999:1.000	T
FBXO11	80204	genome.wustl.edu	37	2	48060178	48060178	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr2:48060178delA	ENST00000403359.3	-	8	1038	c.966delT	c.(964-966)attfs	p.I322fs	FBXO11_ENST00000480038.1_5'Flank|FBXO11_ENST00000402508.1_Frame_Shift_Del_p.I238fs|FBXO11_ENST00000316377.4_Frame_Shift_Del_p.I238fs|FBXO11_ENST00000434523.2_5'Flank	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	322					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGTGTTTTCAATTATAACTT	0.338			"""Mis, F, D"""		DLBCL																																	dbGAP		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											71.0	74.0	73.0					2																	48060178		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.966delT	2.37:g.48060178delA	ENSP00000384823:p.Ile322fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Del	DEL	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.I322fs	ENST00000403359.3	37	c.966	CCDS54357.1	2																																																																																			FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like	ENSG00000138081		0.338	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	68	0.00	0	A	NM_012167, NM_018693, NM_025133		48060178	48060178	-1	no_errors	ENST00000403359	ensembl	human	known	69_37n	frame_shift_del	30	10.81	4	DEL	1.000	-
FCGBP	8857	genome.wustl.edu	37	19	40383831	40383833	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	GAT	GAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr19:40383831_40383833delGAT	ENST00000221347.6	-	21	9784_9786	c.9777_9779delATC	c.(9775-9780)ccatcc>ccc	p.S3260del		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3260						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGCTGGCCGGATGGCAGGAGGC	0.665																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9777_9779delATC	19.37:g.40383831_40383833delGAT	ENSP00000221347:p.Ser3260del	Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	In_Frame_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.S3260in_frame_del	ENST00000221347.6	37	c.9779_9777	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWC_out	ENSG00000090920		0.665	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	11	0.00	0	GAT	NM_003890		40383831	40383833	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	in_frame_del	4	33.33	2	DEL	0.003:0.001:0.000	-
GGT5	2687	genome.wustl.edu	37	22	24621545	24621545	+	Silent	SNP	G	G	A			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr22:24621545G>A	ENST00000327365.4	-	9	1721	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	GGT5_ENST00000263112.7_Silent_p.C403C|GGT5_ENST00000398292.3_Silent_p.C435C|GGT5_ENST00000418439.2_Silent_p.C358C	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	435					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AACCCCGGGGGCATCGCTCGC	0.647																																						dbGAP											0													64.0	55.0	58.0					22																	24621545		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1305C>T	22.37:g.24621545G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.A38V	ENST00000327365.4	37	c.113	CCDS13825.1	22	.	.	.	.	.	.	.	.	.	.	G	4.757	0.140692	0.09083	.	.	ENSG00000099998	ENST00000425408	.	.	.	4.36	2.06	0.26882	.	.	.	.	.	T	0.27454	0.0674	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19418	-1.0306	4	.	.	.	-2.074	5.8796	0.18848	0.1096:0.0:0.7018:0.1886	.	.	.	.	V	38	.	.	A	-	2	0	GGT5	22951545	0.193000	0.23313	0.014000	0.15608	0.045000	0.14185	-0.272000	0.08560	0.963000	0.38082	0.555000	0.69702	GCC	GGT5	-	pfam_GGT_peptidase	ENSG00000099998		0.647	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	HGNC	protein_coding	OTTHUMT00000320119.1	32	0.00	0	G	NM_004121		24621545	24621545	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000425408	ensembl	human	putative	69_37n	missense	19	39.39	13	SNP	0.000	A
GGT5	2687	genome.wustl.edu	37	22	24621545	24621545	+	Silent	SNP	G	G	A			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr22:24621545G>A	ENST00000327365.4	-	9	1721	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	GGT5_ENST00000263112.7_Silent_p.C403C|GGT5_ENST00000398292.3_Silent_p.C435C|GGT5_ENST00000418439.2_Silent_p.C358C	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	435					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AACCCCGGGGGCATCGCTCGC	0.647																																						dbGAP											0													64.0	55.0	58.0					22																	24621545		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1305C>T	22.37:g.24621545G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.A38V	ENST00000327365.4	37	c.113	CCDS13825.1	22	.	.	.	.	.	.	.	.	.	.	G	4.757	0.140692	0.09083	.	.	ENSG00000099998	ENST00000425408	.	.	.	4.36	2.06	0.26882	.	.	.	.	.	T	0.27454	0.0674	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19418	-1.0306	4	.	.	.	-2.074	5.8796	0.18848	0.1096:0.0:0.7018:0.1886	.	.	.	.	V	38	.	.	A	-	2	0	GGT5	22951545	0.193000	0.23313	0.014000	0.15608	0.045000	0.14185	-0.272000	0.08560	0.963000	0.38082	0.555000	0.69702	GCC	GGT5	-	pfam_GGT_peptidase	ENSG00000099998		0.647	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	HGNC	protein_coding	OTTHUMT00000320119.1	32	0.00	0	G	NM_004121		24621545	24621545	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000425408	ensembl	human	putative	69_37n	missense	7	73.08	19	SNP	0.000	A
GOLGA6L6	727832	genome.wustl.edu	37	15	20740537	20740538	+	In_Frame_Ins	INS	-	-	CTC			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr15:20740537_20740538insCTC	ENST00000427390.2	-	8	1302_1303	c.1212_1213insGAG	c.(1210-1215)gagaag>gagGAGaag	p.404_405insE		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	404	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						tcccgtatcttctcctgctcgt	0.564																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1210_1212dupGAG	15.37:g.20740538_20740540dupCTC	ENSP00000398615:p.Glu404_Glu404dup	Somatic		WXS	Illumina GAIIx	Phase_IV	D3YTC0	In_Frame_Ins	INS	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.404in_frame_insE	ENST00000427390.2	37	c.1213_1212	CCDS45184.1	15																																																																																			GOLGA6L6	-	NULL	ENSG00000215405		0.564	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	11	0.00	0	-	NM_001145004		20740537	20740538	-1	no_errors	ENST00000427390	ensembl	human	known	69_37n	in_frame_ins	4	63.64	7	INS	0.717:0.736	CTC
HDAC9	9734	genome.wustl.edu	37	7	18706135	18706136	+	Intron	DEL	TA	TA	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:18706135_18706136delTA	ENST00000432645.2	+	11	1722				HDAC9_ENST00000406072.1_Frame_Shift_Del_p.K574fs|HDAC9_ENST00000441542.2_Intron|HDAC9_ENST00000456174.2_Frame_Shift_Del_p.K559fs|HDAC9_ENST00000524023.1_Frame_Shift_Del_p.K510fs|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000428307.2_Frame_Shift_Del_p.K543fs|HDAC9_ENST00000417496.2_Frame_Shift_Del_p.K585fs|HDAC9_ENST00000406451.4_Intron|HDAC9_ENST00000405010.3_Frame_Shift_Del_p.K587fs	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GATTTGTAATTAAAGTCATTAT	0.366											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1722+36TA>-	7.37:g.18706135_18706136delTA		Somatic	727	WXS	Illumina GAIIx	Phase_IV	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Frame_Shift_Del	DEL	pfam_Hist_deacetylase_Gln_rich_N	p.K587fs	ENST00000432645.2	37	c.1758_1759	CCDS47555.1	7																																																																																			HDAC9	-	NULL	ENSG00000048052		0.366	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	29	0.00	0	TA			18706135	18706136	+1	no_errors	ENST00000405010	ensembl	human	known	69_37n	frame_shift_del	7	18.18	2	DEL	1.000:1.000	-
HECW1	23072	genome.wustl.edu	37	7	43436434	43436434	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:43436434G>A	ENST00000395891.2	+	7	1182	c.577G>A	c.(577-579)Gat>Aat	p.D193N	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.D193N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	193	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CATTGGTGCTGATGAGACCGT	0.413																																						dbGAP											0													168.0	160.0	162.0					7																	43436434		1883	4116	5999	-	-	-	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.577G>A	7.37:g.43436434G>A	ENSP00000379228:p.Asp193Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.D193N	ENST00000395891.2	37	c.577	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346977	0.41599	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.31510	1.5;1.49	5.63	4.74	0.60224	.	0.734758	0.12398	N	0.472380	T	0.25269	0.0614	N	0.22421	0.69	0.33778	D	0.623863	B;B;B	0.23735	0.09;0.001;0.0	B;B;B	0.24155	0.051;0.001;0.001	T	0.27905	-1.0060	10	0.62326	D	0.03	.	13.9238	0.63950	0.0:0.0:0.8477:0.1523	.	193;225;193	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	N	193;193;192	ENSP00000379228:D193N;ENSP00000407774:D193N	ENSP00000265522:D192N	D	+	1	0	HECW1	43402959	1.000000	0.71417	0.997000	0.53966	0.872000	0.50106	4.107000	0.57811	1.350000	0.45770	0.655000	0.94253	GAT	HECW1	-	NULL	ENSG00000002746		0.413	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	83	0.00	0	G	NM_015052		43436434	43436434	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	missense	71	14.29	12	SNP	1.000	A
HECW1	23072	genome.wustl.edu	37	7	43436434	43436434	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:43436434G>A	ENST00000395891.2	+	7	1182	c.577G>A	c.(577-579)Gat>Aat	p.D193N	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.D193N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	193	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CATTGGTGCTGATGAGACCGT	0.413																																						dbGAP											0													168.0	160.0	162.0					7																	43436434		1883	4116	5999	-	-	-	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.577G>A	7.37:g.43436434G>A	ENSP00000379228:p.Asp193Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.D193N	ENST00000395891.2	37	c.577	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346977	0.41599	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.31510	1.5;1.49	5.63	4.74	0.60224	.	0.734758	0.12398	N	0.472380	T	0.25269	0.0614	N	0.22421	0.69	0.33778	D	0.623863	B;B;B	0.23735	0.09;0.001;0.0	B;B;B	0.24155	0.051;0.001;0.001	T	0.27905	-1.0060	10	0.62326	D	0.03	.	13.9238	0.63950	0.0:0.0:0.8477:0.1523	.	193;225;193	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	N	193;193;192	ENSP00000379228:D193N;ENSP00000407774:D193N	ENSP00000265522:D192N	D	+	1	0	HECW1	43402959	1.000000	0.71417	0.997000	0.53966	0.872000	0.50106	4.107000	0.57811	1.350000	0.45770	0.655000	0.94253	GAT	HECW1	-	NULL	ENSG00000002746		0.413	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	83	0.00	0	G	NM_015052		43436434	43436434	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	missense	77	14.44	13	SNP	1.000	A
HSP90B1	7184	genome.wustl.edu	37	12	104332121	104332121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr12:104332121G>T	ENST00000299767.5	+	7	1041	c.859G>T	c.(859-861)Gaa>Taa	p.E287*		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	287					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TCAACAGACTGAAACTGTTGA	0.343																																						dbGAP											0													39.0	39.0	39.0					12																	104332121		2178	4261	6439	-	-	-	SO:0001587	stop_gained	0			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.859G>T	12.37:g.104332121G>T	ENSP00000299767:p.Glu287*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A97	Nonsense_Mutation	SNP	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.E287*	ENST00000299767.5	37	c.859	CCDS9094.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.013544	0.98610	.	.	ENSG00000166598	ENST00000299767;ENST00000537375	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	16.5198	0.84310	0.0:0.0:1.0:0.0	.	.	.	.	X	287	.	ENSP00000299767:E287X	E	+	1	0	HSP90B1	102856251	1.000000	0.71417	0.941000	0.38009	0.948000	0.59901	6.819000	0.75262	2.675000	0.91044	0.591000	0.81541	GAA	HSP90B1	-	pirsf_Hsp90,pfam_Hsp90,superfamily_ATPase-like_ATP-bd	ENSG00000166598		0.343	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90B1	HGNC	protein_coding	OTTHUMT00000407349.1	50	0.00	0	G	NM_003299		104332121	104332121	+1	no_errors	ENST00000299767	ensembl	human	known	69_37n	nonsense	16	20.00	4	SNP	0.987	T
ITGAM	3684	genome.wustl.edu	37	16	31332921	31332922	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr16:31332921_31332922insC	ENST00000287497.8	+	16	2050_2051	c.1975_1976insC	c.(1975-1977)aagfs	p.K659fs	ITGAM_ENST00000544665.3_Frame_Shift_Ins_p.K660fs			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	659					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCATGTCCAGAAGAGCACACGG	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		Exception_encountered	16.37:g.31332921_31332922insC	ENSP00000287497:p.Lys659fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAK0|Q4VAK1|Q4VAK2	Frame_Shift_Ins	INS	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.K660fs	ENST00000287497.8	37	c.1978_1979	CCDS45470.1	16																																																																																			ITGAM	-	pfam_Integrin_alpha-2	ENSG00000169896		0.525	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	53	0.00	0	-	NM_000632		31332921	31332922	+1	no_errors	ENST00000544665	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.144:0.148	C
JMJD1C	221037	genome.wustl.edu	37	10	64957271	64957271	+	Silent	SNP	T	T	G			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr10:64957271T>G	ENST00000399262.2	-	13	5762	c.5544A>C	c.(5542-5544)gcA>gcC	p.A1848A	JMJD1C_ENST00000402544.1_Silent_p.A1629A|JMJD1C_ENST00000542921.1_Silent_p.A1666A|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1848					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGCTTCACATGCATCACACA	0.398																																						dbGAP											0													134.0	124.0	127.0					10																	64957271		1934	4164	6098	-	-	-	SO:0001819	synonymous_variant	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5544A>C	10.37:g.64957271T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfscan_JmjC_dom	p.H395P	ENST00000399262.2	37	c.1184	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502241	0.26949	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.66	-5.61	0.02489	.	.	.	.	.	T	0.36138	0.0956	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39981	-0.9587	4	.	.	.	-15.4609	1.8074	0.03084	0.182:0.2204:0.3678:0.2298	.	.	.	.	P	395	.	.	H	-	2	0	JMJD1C	64627277	0.001000	0.12720	0.968000	0.41197	0.995000	0.86356	-1.863000	0.01651	-0.775000	0.04584	-0.333000	0.08304	CAT	JMJD1C	-	NULL	ENSG00000171988		0.398	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	63	0.00	0	T	NM_004241		64957271	64957271	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000327520	ensembl	human	novel	69_37n	missense	48	18.64	11	SNP	0.897	G
JMJD1C	221037	genome.wustl.edu	37	10	64957271	64957271	+	Silent	SNP	T	T	G			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr10:64957271T>G	ENST00000399262.2	-	13	5762	c.5544A>C	c.(5542-5544)gcA>gcC	p.A1848A	JMJD1C_ENST00000402544.1_Silent_p.A1629A|JMJD1C_ENST00000542921.1_Silent_p.A1666A|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1848					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGCTTCACATGCATCACACA	0.398																																						dbGAP											0													134.0	124.0	127.0					10																	64957271		1934	4164	6098	-	-	-	SO:0001819	synonymous_variant	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5544A>C	10.37:g.64957271T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfscan_JmjC_dom	p.H395P	ENST00000399262.2	37	c.1184	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502241	0.26949	.	.	ENSG00000171988	ENST00000327520	.	.	.	5.66	-5.61	0.02489	.	.	.	.	.	T	0.36138	0.0956	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39981	-0.9587	4	.	.	.	-15.4609	1.8074	0.03084	0.182:0.2204:0.3678:0.2298	.	.	.	.	P	395	.	.	H	-	2	0	JMJD1C	64627277	0.001000	0.12720	0.968000	0.41197	0.995000	0.86356	-1.863000	0.01651	-0.775000	0.04584	-0.333000	0.08304	CAT	JMJD1C	-	NULL	ENSG00000171988		0.398	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	63	0.00	0	T	NM_004241		64957271	64957271	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000327520	ensembl	human	novel	69_37n	missense	42	28.33	17	SNP	0.897	G
KIF15	56992	genome.wustl.edu	37	3	44867604	44867605	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr3:44867604_44867605insT	ENST00000326047.4	+	21	2772_2773	c.2623_2624insT	c.(2623-2625)aaafs	p.K875fs	KIF15_ENST00000425755.1_Frame_Shift_Ins_p.K510fs	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	875					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGAAATAATGAAATTTGAGATT	0.322																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	Exception_encountered	3.37:g.44867604_44867605insT	ENSP00000324020:p.Lys875fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RV9|Q69YL6|Q96JX7|Q9H280	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K875fs	ENST00000326047.4	37	c.2623_2624	CCDS33744.1	3																																																																																			KIF15	-	NULL	ENSG00000163808		0.322	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	40	0.00	0	-			44867604	44867605	+1	no_errors	ENST00000326047	ensembl	human	known	69_37n	frame_shift_ins	26	16.13	5	INS	1.000:1.000	T
KIF16B	55614	genome.wustl.edu	37	20	16506751	16506751	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr20:16506751C>T	ENST00000354981.2	-	3	374	c.217G>A	c.(217-219)Gtt>Att	p.V73I	KIF16B_ENST00000408042.1_Missense_Mutation_p.V73I|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.V73I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	73	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTGTGAAACGTAATCTGGG	0.343																																						dbGAP											0													124.0	127.0	126.0					20																	16506751		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.217G>A	20.37:g.16506751C>T	ENSP00000347076:p.Val73Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V73I	ENST00000354981.2	37	c.217	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234688	0.22626	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.72835	-0.69;-0.69;-0.69	5.53	1.49	0.22878	Kinesin, motor domain (4);	0.204155	0.41294	N	0.000906	T	0.53626	0.1808	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.29627	0.092;0.252;0.045;0.055	B;B;B;B	0.23852	0.02;0.049;0.016;0.027	T	0.47045	-0.9147	10	0.51188	T	0.08	.	7.8322	0.29349	0.0:0.6709:0.0:0.3291	.	73;73;73;73	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	I	73	ENSP00000347076:V73I;ENSP00000347995:V73I;ENSP00000384164:V73I	ENSP00000347076:V73I	V	-	1	0	KIF16B	16454751	1.000000	0.71417	0.986000	0.45419	0.257000	0.26127	0.790000	0.26900	0.297000	0.22615	0.557000	0.71058	GTT	KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000089177		0.343	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	46	0.00	0	C	NM_017683		16506751	16506751	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	0.989	T
LETM2	137994	genome.wustl.edu	37	8	38260043	38260044	+	Splice_Site	INS	-	-	G			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr8:38260043_38260044insG	ENST00000379957.4	+	7	1112_1113	c.985_986insG	c.(985-987)ata>aGta	p.I329fs	LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000297720.5_Splice_Site_p.I234fs|LETM2_ENST00000527710.1_Splice_Site_p.I115fs|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000524874.1_Splice_Site_p.I281fs|LETM2_ENST00000523983.2_Splice_Site_p.I282fs	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	329	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			TTTCTTTCAGATAATTGCCAAG	0.455																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.985-1->G	8.37:g.38260043_38260044insG		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMG3|Q8NCR2|Q96LL1	Frame_Shift_Ins	INS	pfam_LETM1	p.I329fs	ENST00000379957.4	37	c.985_986		8																																																																																			LETM2	-	pfam_LETM1	ENSG00000165046		0.455	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	LETM2	HGNC	protein_coding	OTTHUMT00000381816.1	39	0.00	0	-	NM_144652	Frame_Shift_Ins	38260043	38260044	+1	no_errors	ENST00000379957	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.888:0.979	G
LIMK2	3985	genome.wustl.edu	37	22	31655161	31655161	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr22:31655161G>A	ENST00000331728.4	+	4	421	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	LIMK2_ENST00000340552.4_Missense_Mutation_p.V82M|LIMK2_ENST00000333611.4_Missense_Mutation_p.V82M|LIMK2_ENST00000406516.1_Missense_Mutation_p.V25M|LIMK2_ENST00000444929.2_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	103	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAGCTGCAAGGTGATCATTGA	0.527																																						dbGAP											0													173.0	127.0	142.0					22																	31655161		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.307G>A	22.37:g.31655161G>A	ENSP00000332687:p.Val103Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.V103M	ENST00000331728.4	37	c.307	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009370	0.75046	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.27	5.27	0.74061	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	L	0.49640	1.575	0.80722	D	1	P;P;B;D	0.76494	0.544;0.599;0.425;0.999	B;B;B;D	0.71184	0.439;0.374;0.42;0.972	D	0.91094	0.4909	10	0.48119	T	0.1	-30.8116	18.2395	0.89961	0.0:0.0:1.0:0.0	.	135;82;103;25	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	M	25;103;135;82;82	ENSP00000384602:V25M;ENSP00000332687:V103M;ENSP00000330470:V82M;ENSP00000339916:V82M	ENSP00000332687:V103M	V	+	1	0	LIMK2	29985161	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.414000	0.97362	2.608000	0.88229	0.557000	0.71058	GTG	LIMK2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000182541		0.527	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	109	0.00	0	G	NM_016733		31655161	31655161	+1	no_errors	ENST00000331728	ensembl	human	known	69_37n	missense	33	29.79	14	SNP	1.000	A
LIMK2	3985	genome.wustl.edu	37	22	31655161	31655161	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr22:31655161G>A	ENST00000331728.4	+	4	421	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	LIMK2_ENST00000340552.4_Missense_Mutation_p.V82M|LIMK2_ENST00000333611.4_Missense_Mutation_p.V82M|LIMK2_ENST00000406516.1_Missense_Mutation_p.V25M|LIMK2_ENST00000444929.2_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	103	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAGCTGCAAGGTGATCATTGA	0.527																																						dbGAP											0													173.0	127.0	142.0					22																	31655161		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.307G>A	22.37:g.31655161G>A	ENSP00000332687:p.Val103Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.V103M	ENST00000331728.4	37	c.307	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009370	0.75046	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.27	5.27	0.74061	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	L	0.49640	1.575	0.80722	D	1	P;P;B;D	0.76494	0.544;0.599;0.425;0.999	B;B;B;D	0.71184	0.439;0.374;0.42;0.972	D	0.91094	0.4909	10	0.48119	T	0.1	-30.8116	18.2395	0.89961	0.0:0.0:1.0:0.0	.	135;82;103;25	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	M	25;103;135;82;82	ENSP00000384602:V25M;ENSP00000332687:V103M;ENSP00000330470:V82M;ENSP00000339916:V82M	ENSP00000332687:V103M	V	+	1	0	LIMK2	29985161	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.414000	0.97362	2.608000	0.88229	0.557000	0.71058	GTG	LIMK2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000182541		0.527	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	109	0.00	0	G	NM_016733		31655161	31655161	+1	no_errors	ENST00000331728	ensembl	human	known	69_37n	missense	23	36.11	13	SNP	1.000	A
LMTK2	22853	genome.wustl.edu	37	7	97833398	97833398	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:97833398C>G	ENST00000297293.5	+	13	4676	c.4383C>G	c.(4381-4383)agC>agG	p.S1461R		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1461				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGGAGCAGAGCTGGCCGCACT	0.587																																						dbGAP											0													81.0	89.0	87.0					7																	97833398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4383C>G	7.37:g.97833398C>G	ENSP00000297293:p.Ser1461Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1461R	ENST00000297293.5	37	c.4383	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995442	0.74703	.	.	ENSG00000164715	ENST00000297293	T	0.79141	-1.24	5.54	4.43	0.53597	.	0.075070	0.85682	D	0.000000	D	0.85656	0.5747	M	0.73962	2.25	0.47183	D	0.999348	D	0.76494	0.999	D	0.66716	0.946	D	0.86443	0.1768	10	0.72032	D	0.01	.	12.1112	0.53840	0.0:0.8837:0.0:0.1163	.	1461	Q8IWU2	LMTK2_HUMAN	R	1461	ENSP00000297293:S1461R	ENSP00000297293:S1461R	S	+	3	2	LMTK2	97671334	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.352000	0.44080	2.769000	0.95229	0.563000	0.77884	AGC	LMTK2	-	NULL	ENSG00000164715		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	52	0.00	0	C	NM_014916		97833398	97833398	+1	no_errors	ENST00000297293	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	G
LMTK2	22853	genome.wustl.edu	37	7	97833398	97833398	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:97833398C>G	ENST00000297293.5	+	13	4676	c.4383C>G	c.(4381-4383)agC>agG	p.S1461R		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1461				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGGAGCAGAGCTGGCCGCACT	0.587																																						dbGAP											0													81.0	89.0	87.0					7																	97833398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4383C>G	7.37:g.97833398C>G	ENSP00000297293:p.Ser1461Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1461R	ENST00000297293.5	37	c.4383	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995442	0.74703	.	.	ENSG00000164715	ENST00000297293	T	0.79141	-1.24	5.54	4.43	0.53597	.	0.075070	0.85682	D	0.000000	D	0.85656	0.5747	M	0.73962	2.25	0.47183	D	0.999348	D	0.76494	0.999	D	0.66716	0.946	D	0.86443	0.1768	10	0.72032	D	0.01	.	12.1112	0.53840	0.0:0.8837:0.0:0.1163	.	1461	Q8IWU2	LMTK2_HUMAN	R	1461	ENSP00000297293:S1461R	ENSP00000297293:S1461R	S	+	3	2	LMTK2	97671334	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.352000	0.44080	2.769000	0.95229	0.563000	0.77884	AGC	LMTK2	-	NULL	ENSG00000164715		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	52	0.00	0	C	NM_014916		97833398	97833398	+1	no_errors	ENST00000297293	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	G
MUC12	10071	genome.wustl.edu	37	7	100639154	100639155	+	Frame_Shift_Ins	INS	-	-	C	rs375638938		TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:100639154_100639155insC	ENST00000379442.3	+	5	5739_5740	c.5739_5740insC	c.(5740-5742)gcgfs	p.A1914fs	MUC12_ENST00000536621.1_Frame_Shift_Ins_p.A1771fs			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1914	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AAGAATCTACGGCGTACCACAG	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	Exception_encountered	7.37:g.100639154_100639155insC	ENSP00000368755:p.Ala1914fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Frame_Shift_Ins	INS	pfam_SEA	p.A1913fs	ENST00000379442.3	37	c.5739_5740		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.550	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	20	0.00	0	-	XM_379904		100639154	100639155	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	frame_shift_ins	9	25.00	3	INS	0.000:0.000	C
MUC12	10071	genome.wustl.edu	37	7	100645406	100645407	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:100645406_100645407delTA	ENST00000379442.3	+	5	11991_11992	c.11991_11992delTA	c.(11989-11994)tctacafs	p.T3998fs	MUC12_ENST00000536621.1_Frame_Shift_Del_p.T3855fs			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3998	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CTGAAGAATCTACAGCCTTCCC	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.11991_11992delTA	7.37:g.100645406_100645407delTA	ENSP00000368755:p.Thr3998fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Frame_Shift_Del	DEL	pfam_SEA	p.T3998fs	ENST00000379442.3	37	c.11991_11992		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.579	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	8	0.00	0	TA	XM_379904		100645406	100645407	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.001:0.000	-
MUC12	10071	genome.wustl.edu	37	7	100647332	100647333	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:100647332_100647333insA	ENST00000379442.3	+	5	13917_13918	c.13917_13918insA	c.(13918-13920)caafs	p.Q4640fs	MUC12_ENST00000536621.1_Frame_Shift_Ins_p.Q4497fs			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4640	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CCCACAGCAGCCAAGACGCAAC	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	Exception_encountered	7.37:g.100647332_100647333insA	ENSP00000368755:p.Gln4640fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Frame_Shift_Ins	INS	pfam_SEA	p.Q4639fs	ENST00000379442.3	37	c.13917_13918		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.550	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	49	0.00	0	-	XM_379904		100647332	100647333	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	frame_shift_ins	41	10.87	5	INS	0.426:0.340	A
MUC4	4585	genome.wustl.edu	37	3	195506482	195506482	+	Missense_Mutation	SNP	G	G	T	rs113936020	byFrequency	TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr3:195506482G>T	ENST00000463781.3	-	2	12428	c.11969C>A	c.(11968-11970)aCt>aAt	p.T3990N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3990N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TACTGAGGAAGTGTCGGTGAC	0.592																																						dbGAP											0													10.0	7.0	8.0					3																	195506482		623	1357	1980	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11969C>A	3.37:g.195506482G>T	ENSP00000417498:p.Thr3990Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.T3990N	ENST00000463781.3	37	c.11969	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	0.405	-0.916416	0.02415	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34275	1.37;1.46	0.481	0.481	0.16809	.	0.562686	0.09843	U	0.748557	T	0.35913	0.0948	N	0.14661	0.345	0.09310	N	1	D	0.57257	0.979	D	0.68192	0.956	T	0.29852	-0.9998	9	.	.	.	.	6.8687	0.24108	1.0E-4:0.0:0.9999:0.0	.	3862	E7ESK3	.	N	3990	ENSP00000417498:T3990N;ENSP00000420243:T3990N	.	T	-	2	0	MUC4	196991261	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.001000	0.12947	0.537000	0.28751	0.064000	0.15345	ACT	MUC4	-	NULL	ENSG00000145113		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	27	0.00	0	G	NM_018406		195506482	195506482	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	34	33.33	18	SNP	0.003	T
MYO3B	140469	genome.wustl.edu	37	2	171376010	171376010	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr2:171376010C>G	ENST00000408978.4	+	30	3678	c.3535C>G	c.(3535-3537)Cag>Gag	p.Q1179E	MYO3B_ENST00000409044.3_Missense_Mutation_p.Q1152E|MYO3B_ENST00000334231.6_Missense_Mutation_p.Q1188E|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1179					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGGCCGTACACAGACTTCAAG	0.453																																						dbGAP											0													87.0	85.0	86.0					2																	171376010		1910	4134	6044	-	-	-	SO:0001583	missense	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3535C>G	2.37:g.171376010C>G	ENSP00000386213:p.Gln1179Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.Q1188E	ENST00000408978.4	37	c.3562	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	C	2.685	-0.274568	0.05679	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000334231	T;T;T	0.76578	-1.03;-0.92;-0.93	3.61	0.376	0.16193	.	1.122620	0.07130	N	0.845370	T	0.55529	0.1926	N	0.11560	0.145	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34775	-0.9815	10	0.12103	T	0.63	.	6.4996	0.22162	0.114:0.4935:0.3925:0.0	.	1179;1152;1179	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	E	1152;1179;1178;1188	ENSP00000386497:Q1152E;ENSP00000386213:Q1179E;ENSP00000335100:Q1188E	ENSP00000314213:Q1178E	Q	+	1	0	MYO3B	171084256	0.069000	0.21087	0.075000	0.20258	0.009000	0.06853	0.691000	0.25467	-0.088000	0.12506	-0.552000	0.04208	CAG	MYO3B	-	NULL	ENSG00000071909		0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	26	0.00	0	C			171376010	171376010	+1	no_errors	ENST00000334231	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	0.020	G
NAA35	60560	genome.wustl.edu	37	9	88592347	88592347	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr9:88592347delT	ENST00000361671.5	+	10	881	c.748delT	c.(748-750)tttfs	p.F250fs	NAA35_ENST00000376040.1_Frame_Shift_Del_p.F250fs	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	250					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GCTTATAGCCTTTACTAAGAA	0.348																																						dbGAP											0													135.0	133.0	134.0					9																	88592347		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.748delT	9.37:g.88592347delT	ENSP00000354972:p.Phe250fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZE6|Q9H631|Q9H703	Frame_Shift_Del	DEL	pfam_NatC_AcTrfase_Mak10	p.F250fs	ENST00000361671.5	37	c.748	CCDS6673.1	9																																																																																			NAA35	-	NULL	ENSG00000135040		0.348	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA35	HGNC	protein_coding	OTTHUMT00000052906.1	100	0.00	0	T	NM_024635		88592347	88592347	+1	no_errors	ENST00000361671	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
NEK1	4750	genome.wustl.edu	37	4	170359332	170359333	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr4:170359332_170359333insAA	ENST00000439128.2	-	26	3221_3222	c.2581_2582insTT	c.(2581-2583)aacfs	p.N861fs	NEK1_ENST00000511633.1_Frame_Shift_Ins_p.N845fs|NEK1_ENST00000512193.1_Frame_Shift_Ins_p.N792fs|NEK1_ENST00000507142.1_Frame_Shift_Ins_p.N889fs|NEK1_ENST00000510533.1_Frame_Shift_Ins_p.N817fs	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	861					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AGCTGATGGGTTTATTTCATGT	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2581_2582insTT	4.37:g.170359332_170359333insAA	ENSP00000408020:p.Asn861fs	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Frame_Shift_Ins	INS	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N889fs	ENST00000439128.2	37	c.2666_2665	CCDS47162.1	4																																																																																			NEK1	-	NULL	ENSG00000137601		0.356	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	143	0.00	0	-			170359332	170359333	-1	no_errors	ENST00000507142	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	0.233:0.323	AA
NPC1	4864	genome.wustl.edu	37	18	21119843	21119843	+	Silent	SNP	G	G	A			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr18:21119843G>A	ENST00000269228.5	-	18	3281	c.2727C>T	c.(2725-2727)tgC>tgT	p.C909C	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.C591C	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	909					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.C909C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCATGCCGCCGCACACCATGT	0.537																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											94.0	89.0	91.0					18																	21119843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2727C>T	18.37:g.21119843G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type	p.A602V	ENST00000269228.5	37	c.1805	CCDS11878.1	18																																																																																			NPC1	-	tigrfam_NP_C_type	ENSG00000141458		0.537	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	47	0.00	0	G	NM_000271		21119843	21119843	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000591051	ensembl	human	putative	69_37n	missense	14	33.33	7	SNP	1.000	A
NPC1	4864	genome.wustl.edu	37	18	21119843	21119843	+	Silent	SNP	G	G	A			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr18:21119843G>A	ENST00000269228.5	-	18	3281	c.2727C>T	c.(2725-2727)tgC>tgT	p.C909C	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.C591C	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	909					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.C909C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCATGCCGCCGCACACCATGT	0.537																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											94.0	89.0	91.0					18																	21119843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2727C>T	18.37:g.21119843G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type	p.A602V	ENST00000269228.5	37	c.1805	CCDS11878.1	18																																																																																			NPC1	-	tigrfam_NP_C_type	ENSG00000141458		0.537	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	47	0.00	0	G	NM_000271		21119843	21119843	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000591051	ensembl	human	putative	69_37n	missense	23	30.30	10	SNP	1.000	A
NR1H2	7376	genome.wustl.edu	37	19	50881804	50881806	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr19:50881804_50881806delGAA	ENST00000253727.5	+	6	733_735	c.498_500delGAA	c.(496-501)cggaag>cgg	p.K169del	NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_In_Frame_Del_p.K169del|NR1H2_ENST00000598168.1_In_Frame_Del_p.K169del|NR1H2_ENST00000411902.2_In_Frame_Del_p.K72del|NR1H2_ENST00000599105.1_In_Frame_Del_p.K169del	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	169					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AACAGATCCGGAAGAAGAAGATT	0.66																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.498_500delGAA	19.37:g.50881810_50881812delGAA	ENSP00000253727:p.Lys169del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	In_Frame_Del	DEL	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.K169in_frame_del	ENST00000253727.5	37	c.498_500	CCDS42593.1	19																																																																																			NR1H2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000131408		0.660	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	28	0.00	0	GAA			50881804	50881806	+1	no_errors	ENST00000253727	ensembl	human	known	69_37n	in_frame_del	16	20.00	4	DEL	0.985:0.996:0.998	-
NTNG2	84628	genome.wustl.edu	37	9	135116302	135116302	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr9:135116302delA	ENST00000393229.3	+	7	2004	c.1228delA	c.(1228-1230)aacfs	p.N410fs	NTNG2_ENST00000360670.3_Frame_Shift_Del_p.N416fs|NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000393228.4_Frame_Shift_Del_p.N402fs	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	410	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCCAGAGTGTAACTGCAACCA	0.701																																						dbGAP											0													45.0	42.0	43.0					9																	135116302		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1228delA	9.37:g.135116302delA	ENSP00000376921:p.Asn410fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUJ2|Q6UXY0|Q96JH0	Frame_Shift_Del	DEL	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.N416fs	ENST00000393229.3	37	c.1246	CCDS6946.1	9																																																																																			NTNG2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000196358		0.701	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	33	0.00	0	A	NM_032536		135116302	135116302	+1	no_errors	ENST00000360670	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	1.000	-
OASL	8638	genome.wustl.edu	37	12	121458630	121458631	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr12:121458630_121458631insC	ENST00000257570.5	-	6	1548_1549	c.1278_1279insG	c.(1276-1281)ctgctgfs	p.L427fs	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	427	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATGGTCTCCAGCAGATAGATGT	0.545																																					Colon(192;517 2041 31392 31913 39966)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.1279dupG	12.37:g.121458631_121458631dupC	ENSP00000257570:p.Leu427fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Frame_Shift_Ins	INS	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.L426fs	ENST00000257570.5	37	c.1279_1278	CCDS9211.1	12																																																																																			OASL	-	smart_Ubiquitin	ENSG00000135114		0.545	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2	37	0.00	0	-	NM_003733		121458630	121458631	-1	no_errors	ENST00000257570	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.985:0.975	C
OR4C6	219432	genome.wustl.edu	37	11	55432931	55432932	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr11:55432931_55432932insT	ENST00000314259.3	+	1	318_319	c.289_290insT	c.(289-291)accfs	p.T97fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T97A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AGGCTGCCTCACCCAGCTGTTT	0.53																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	Exception_encountered	11.37:g.55432931_55432932insT	ENSP00000324769:p.Thr97fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP11|Q6IFD2	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T97fs	ENST00000314259.3	37	c.289_290	CCDS31506.1	11																																																																																			OR4C6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000181903		0.530	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	88	0.00	0	-	NM_001004704		55432931	55432932	+1	no_errors	ENST00000314259	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.004:0.018	T
POTEG	404785	genome.wustl.edu	37	14	19574243	19574243	+	Missense_Mutation	SNP	C	C	A	rs200779890		TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr14:19574243C>A	ENST00000409832.3	+	9	1352	c.1300C>A	c.(1300-1302)Cct>Act	p.P434T		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	434				P -> T (in Ref. 1; AAS58871 and 3; AAI27624). {ECO:0000305}.						cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAAAACCTGCCTAACGGTGC	0.408																																						dbGAP											0													1.0	1.0	1.0					14																	19574243		283	662	945	-	-	-	SO:0001583	missense	0				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1300C>A	14.37:g.19574243C>A	ENSP00000386971:p.Pro434Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P434T	ENST00000409832.3	37	c.1300	CCDS32018.1	14	431	0.19734432234432234	111	0.22560975609756098	61	0.1685082872928177	79	0.1381118881118881	180	0.23746701846965698	A	0.001	-2.939128	0.00052	.	.	ENSG00000222036	ENST00000409832	T	0.25250	1.81	1.47	-2.94	0.05581	.	.	.	.	.	T	0.00012	0.0000	N	0.02247	-0.625	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13872	-1.0493	8	0.02654	T	1	.	0.5559	0.00671	0.2081:0.3317:0.2012:0.259	.	434	Q6S5H5	POTEG_HUMAN	T	434	ENSP00000386971:P434T	ENSP00000386971:P434T	P	+	1	0	POTEG	18644243	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.265000	0.01172	-2.568000	0.00469	-1.447000	0.01057	CCT	POTEG	-	NULL	ENSG00000222036		0.408	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	HGNC	protein_coding	OTTHUMT00000408579.1	31	0.00	0	C	NM_001005356		19574243	19574243	+1	no_errors	ENST00000409832	ensembl	human	known	69_37n	missense	0	100.00	4	SNP	0.000	A
PPFIBP1	8496	genome.wustl.edu	37	12	27841969	27841969	+	Missense_Mutation	SNP	G	G	A	rs539499516		TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr12:27841969G>A	ENST00000318304.8	+	26	2819	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.V693I|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.V815I|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.V840I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	846	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCGTTTTAACGTAGAAACAAT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19313	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													92.0	83.0	86.0					12																	27841969		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2536G>A	12.37:g.27841969G>A	ENSP00000314724:p.Val846Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V846I	ENST00000318304.8	37	c.2536	CCDS55812.1	12	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478776	0.84747	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.18	5.18	0.71444	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.31156	U	0.008141	D	0.88262	0.6389	L	0.29908	0.895	0.80722	D	1	D;D;D;P;D	0.89917	0.982;0.999;1.0;0.924;1.0	P;D;D;P;D	0.85130	0.631;0.985;0.997;0.528;0.995	D	0.87646	0.2525	10	0.37606	T	0.19	-19.1112	18.3012	0.90164	0.0:0.0:1.0:0.0	.	693;677;846;840;815	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	I	677;693;846;815;840	ENSP00000444304:V677I;ENSP00000445425:V693I;ENSP00000314724:V846I;ENSP00000443442:V815I;ENSP00000228425:V840I	ENSP00000228425:V840I	V	+	1	0	PPFIBP1	27733236	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	9.735000	0.98825	2.418000	0.82041	0.591000	0.81541	GTA	PPFIBP1	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	ENSG00000110841		0.378	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	HGNC	protein_coding	OTTHUMT00000402877.1	39	0.00	0	G	NM_003622		27841969	27841969	+1	no_errors	ENST00000318304	ensembl	human	known	69_37n	missense	24	38.46	15	SNP	1.000	A
PPFIBP1	8496	genome.wustl.edu	37	12	27841969	27841969	+	Missense_Mutation	SNP	G	G	A	rs539499516		TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr12:27841969G>A	ENST00000318304.8	+	26	2819	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.V693I|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.V815I|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.V840I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	846	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCGTTTTAACGTAGAAACAAT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19313	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													92.0	83.0	86.0					12																	27841969		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2536G>A	12.37:g.27841969G>A	ENSP00000314724:p.Val846Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V846I	ENST00000318304.8	37	c.2536	CCDS55812.1	12	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478776	0.84747	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.18	5.18	0.71444	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.31156	U	0.008141	D	0.88262	0.6389	L	0.29908	0.895	0.80722	D	1	D;D;D;P;D	0.89917	0.982;0.999;1.0;0.924;1.0	P;D;D;P;D	0.85130	0.631;0.985;0.997;0.528;0.995	D	0.87646	0.2525	10	0.37606	T	0.19	-19.1112	18.3012	0.90164	0.0:0.0:1.0:0.0	.	693;677;846;840;815	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	I	677;693;846;815;840	ENSP00000444304:V677I;ENSP00000445425:V693I;ENSP00000314724:V846I;ENSP00000443442:V815I;ENSP00000228425:V840I	ENSP00000228425:V840I	V	+	1	0	PPFIBP1	27733236	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	9.735000	0.98825	2.418000	0.82041	0.591000	0.81541	GTA	PPFIBP1	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	ENSG00000110841		0.378	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	HGNC	protein_coding	OTTHUMT00000402877.1	39	0.00	0	G	NM_003622		27841969	27841969	+1	no_errors	ENST00000318304	ensembl	human	known	69_37n	missense	28	48.15	26	SNP	1.000	A
RAD50	10111	genome.wustl.edu	37	5	131911476	131911478	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr5:131911476_131911478delAAG	ENST00000265335.6	+	3	608_610	c.221_223delAAG	c.(220-225)caagaa>caa	p.E75del	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	75					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGTTGCTCAAGAAACAGATGT	0.374								Homologous recombination																														dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.221_223delAAG	5.37:g.131911476_131911478delAAG	ENSP00000265335:p.Glu75del	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	In_Frame_Del	DEL	pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50	p.E75in_frame_del	ENST00000265335.6	37	c.221_223	CCDS34233.1	5																																																																																			RAD50	-	tigrfam_Rad50	ENSG00000113522		0.374	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	66	0.00	0	AAG	NM_005732		131911476	131911478	+1	no_errors	ENST00000265335	ensembl	human	known	69_37n	in_frame_del	25	37.50	15	DEL	1.000:0.954:1.000	-
RAD50	10111	genome.wustl.edu	37	5	131911476	131911478	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr5:131911476_131911478delAAG	ENST00000265335.6	+	3	608_610	c.221_223delAAG	c.(220-225)caagaa>caa	p.E75del	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	75					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGTTGCTCAAGAAACAGATGT	0.374								Homologous recombination																														dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.221_223delAAG	5.37:g.131911476_131911478delAAG	ENSP00000265335:p.Glu75del	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	In_Frame_Del	DEL	pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50	p.E75in_frame_del	ENST00000265335.6	37	c.221_223	CCDS34233.1	5																																																																																			RAD50	-	tigrfam_Rad50	ENSG00000113522		0.374	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	66	0.00	0	AAG	NM_005732		131911476	131911478	+1	no_errors	ENST00000265335	ensembl	human	known	69_37n	in_frame_del	21	41.67	15	DEL	1.000:0.954:1.000	-
RALGAPB	57148	genome.wustl.edu	37	20	37195849	37195852	+	Frame_Shift_Del	DEL	ACAG	ACAG	-	rs199614664		TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	ACAG	ACAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr20:37195849_37195852delACAG	ENST00000262879.6	+	26	4212_4215	c.3928_3931delACAG	c.(3928-3933)acagacfs	p.TD1310fs	RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.TD1089fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.TD1310fs|RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.TD1307fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1310	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCCCAATCATACAGACAATCTTAA	0.387																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3928_3931delACAG	20.37:g.37195849_37195852delACAG	ENSP00000262879:p.Thr1310fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.D1311fs	ENST00000262879.6	37	c.3928_3931	CCDS13305.1	20																																																																																			RALGAPB	-	pfscan_Rap_GAP	ENSG00000170471		0.387	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	47	0.00	0	ACAG	NM_020336		37195849	37195852	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	frame_shift_del	45	26.23	16	DEL	1.000:1.000:0.998:1.000	-
RALGAPB	57148	genome.wustl.edu	37	20	37195849	37195852	+	Frame_Shift_Del	DEL	ACAG	ACAG	-	rs199614664		TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	ACAG	ACAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr20:37195849_37195852delACAG	ENST00000262879.6	+	26	4212_4215	c.3928_3931delACAG	c.(3928-3933)acagacfs	p.TD1310fs	RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.TD1089fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.TD1310fs|RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.TD1307fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1310	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCCCAATCATACAGACAATCTTAA	0.387																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3928_3931delACAG	20.37:g.37195849_37195852delACAG	ENSP00000262879:p.Thr1310fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.D1311fs	ENST00000262879.6	37	c.3928_3931	CCDS13305.1	20																																																																																			RALGAPB	-	pfscan_Rap_GAP	ENSG00000170471		0.387	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	47	0.00	0	ACAG	NM_020336		37195849	37195852	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	frame_shift_del	49	44.32	39	DEL	1.000:1.000:0.998:1.000	-
RFX1	5989	genome.wustl.edu	37	19	14074007	14074009	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	TCG	TCG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr19:14074007_14074009delTCG	ENST00000254325.4	-	19	2883_2885	c.2649_2651delCGA	c.(2647-2652)gacgag>gag	p.D883del		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	883	Necessary for dimerization.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GTACATGTACTCGTCGTAGAGCA	0.675																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2649_2651delCGA	19.37:g.14074010_14074012delTCG	ENSP00000254325:p.Asp883del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.D883in_frame_del	ENST00000254325.4	37	c.2651_2649	CCDS12301.1	19																																																																																			RFX1	-	NULL	ENSG00000132005		0.675	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	HGNC	protein_coding	OTTHUMT00000458510.1	39	0.00	0	TCG	NM_002918		14074007	14074009	-1	no_errors	ENST00000254325	ensembl	human	known	69_37n	in_frame_del	11	45.00	9	DEL	1.000:1.000:0.991	-
RNASE11	122651	genome.wustl.edu	37	14	21052053	21052053	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr14:21052053A>G	ENST00000610205.1	-	3	764	c.581T>C	c.(580-582)gTt>gCt	p.V194A	RNASE11_ENST00000553849.1_Missense_Mutation_p.V194A|RNASE11_ENST00000398008.2_Missense_Mutation_p.V194A|RNASE11_ENST00000398009.2_Missense_Mutation_p.V194A|RNASE11_ENST00000555841.1_Missense_Mutation_p.V194A|RNASE11_ENST00000432835.2_Missense_Mutation_p.V194A	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	194						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		AGAGCCACAAACTAACCAGCT	0.403																																						dbGAP											0													76.0	67.0	70.0					14																	21052053		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.581T>C	14.37:g.21052053A>G	ENSP00000476537:p.Val194Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.V194A	ENST00000610205.1	37	c.581	CCDS9553.1	14	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527861	0.64860	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	3.99	2.86	0.33363	Ribonuclease A, domain (1);	0.319686	0.26470	N	0.024192	T	0.42966	0.1226	L	0.27053	0.805	0.28934	N	0.891386	P	0.47484	0.896	P	0.60609	0.877	T	0.26677	-1.0096	10	0.87932	D	0	-9.9361	6.138	0.20243	0.8856:0.0:0.1144:0.0	.	194	Q8TAA1	RNS11_HUMAN	A	194	ENSP00000338288:V194A;ENSP00000451318:V194A;ENSP00000451563:V194A;ENSP00000381093:V194A;ENSP00000381092:V194A;ENSP00000395210:V194A	ENSP00000338288:V194A	V	-	2	0	RNASE11	20121893	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	1.895000	0.39778	0.889000	0.36185	0.418000	0.28097	GTT	RNASE11	-	superfamily_RNaseA_domain	ENSG00000173464		0.403	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE11	HGNC	protein_coding	OTTHUMT00000073662.3	26	0.00	0	A	NM_145250		21052053	21052053	-1	no_errors	ENST00000335950	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	0.997	G
RPGR	6103	genome.wustl.edu	37	X	38145271	38145272	+	Intron	INS	-	-	CCC			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chrX:38145271_38145272insCCC	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_In_Frame_Ins_p.993_994insG|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ttcttccccttcctcctcttcc	0.609																																						dbGAP											0									,	22,3370		0,22,0,1474,400					,	-0.6	0.0			12	50,5822		2,31,15,2183,1425	no	coding,intron	RPGR	NM_001034853.1,NM_000328.2	,	2,53,15,3657,1825	A1A1,A1R,A1,RR,R		0.8515,0.6486,0.7772	,	,		72,9192				-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1074->GGG	X.37:g.38145271_38145272insCCC		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	In_Frame_Ins	INS	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.994in_frame_insG	ENST00000339363.3	37	c.2981_2980		X																																																																																			RPGR	-	NULL	ENSG00000156313		0.609	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		32	0.00	0	-	NM_000328		38145271	38145272	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	in_frame_ins	21	16.00	4	INS	0.060:0.135	CCC
RPGR	6103	genome.wustl.edu	37	X	38145287	38145289	+	Intron	DEL	CCC	CCC	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	CCC	CCC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chrX:38145287_38145289delCCC	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_In_Frame_Del_p.G988del|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tcttccccctccccttctccttc	0.606																																						dbGAP											0			GRCh37	CD064605|CD075494	orf15	D			,	26,3260		3,19,1,1439,363					,	2.1	0.0			9	22,5671		2,13,5,2151,1356	no	coding,intron	RPGR	NM_001034853.1,NM_000328.2	,	5,32,6,3590,1719	A1A1,A1R,A1,RR,R		0.3864,0.7912,0.5346	,	,		48,8931				-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1057GGG>-	X.37:g.38145287_38145289delCCC		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	In_Frame_Del	DEL	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G988in_frame_del	ENST00000339363.3	37	c.2965_2963		X																																																																																			RPGR	-	NULL	ENSG00000156313		0.606	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		22	0.00	0	CCC	NM_000328		38145287	38145289	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	in_frame_del	8	30.77	4	DEL	0.144:0.016:0.007	-
SERPINE1	5054	genome.wustl.edu	37	7	100773701	100773701	+	Splice_Site	SNP	G	G	C			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:100773701G>C	ENST00000223095.4	+	3	428		c.e3-1		SERPINE1_ENST00000445463.2_Splice_Site	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCCCGGTGCAGACAAGGGCAT	0.602																																						dbGAP											0													78.0	77.0	77.0					7																	100773701		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.272-1G>C	7.37:g.100773701G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4S0|F8WD53	Splice_Site	SNP	-	e2-1	ENST00000223095.4	37	c.272-1	CCDS5711.1	7	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855985	0.32791	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7485	0.85479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINE1	100560421	1.000000	0.71417	0.999000	0.59377	0.094000	0.18550	6.586000	0.74067	2.553000	0.86117	0.561000	0.74099	.	SERPINE1	-	-	ENSG00000106366		0.602	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINE1	HGNC	protein_coding	OTTHUMT00000347458.1	33	0.00	0	G	NM_000602	Intron	100773701	100773701	+1	no_errors	ENST00000223095	ensembl	human	known	69_37n	splice_site	2	83.33	10	SNP	1.000	C
SERPINE1	5054	genome.wustl.edu	37	7	100773701	100773701	+	Splice_Site	SNP	G	G	C			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:100773701G>C	ENST00000223095.4	+	3	428		c.e3-1		SERPINE1_ENST00000445463.2_Splice_Site	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCCCGGTGCAGACAAGGGCAT	0.602																																						dbGAP											0													78.0	77.0	77.0					7																	100773701		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.272-1G>C	7.37:g.100773701G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4S0|F8WD53	Splice_Site	SNP	-	e2-1	ENST00000223095.4	37	c.272-1	CCDS5711.1	7	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855985	0.32791	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7485	0.85479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINE1	100560421	1.000000	0.71417	0.999000	0.59377	0.094000	0.18550	6.586000	0.74067	2.553000	0.86117	0.561000	0.74099	.	SERPINE1	-	-	ENSG00000106366		0.602	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINE1	HGNC	protein_coding	OTTHUMT00000347458.1	33	0.00	0	G	NM_000602	Intron	100773701	100773701	+1	no_errors	ENST00000223095	ensembl	human	known	69_37n	splice_site	22	21.43	6	SNP	1.000	C
SERPINI1	5274	genome.wustl.edu	37	3	167510536	167510537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr3:167510536_167510537insT	ENST00000295777.5	+	4	1071_1072	c.640_641insT	c.(640-642)attfs	p.I214fs	SERPINI1_ENST00000446050.2_Frame_Shift_Ins_p.I214fs	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	214					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGAAGTCCAAATTCCAATGATG	0.332																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.642dupT	3.37:g.167510538_167510538dupT	ENSP00000295777:p.Ile214fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K217|D3DNP1|Q6AHZ4	Frame_Shift_Ins	INS	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.P215fs	ENST00000295777.5	37	c.640_641	CCDS3203.1	3																																																																																			SERPINI1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000163536		0.332	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINI1	HGNC	protein_coding	OTTHUMT00000351056.1	58	0.00	0	-			167510536	167510537	+1	no_errors	ENST00000295777	ensembl	human	known	69_37n	frame_shift_ins	31	11.43	4	INS	1.000:1.000	T
STRAP	11171	genome.wustl.edu	37	12	16050834	16050834	+	Silent	SNP	C	C	A			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr12:16050834C>A	ENST00000419869.2	+	7	970	c.657C>A	c.(655-657)tcC>tcA	p.S219S	STRAP_ENST00000538352.1_Silent_p.S125S|STRAP_ENST00000025399.6_Silent_p.S232S	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	219					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CAATTAAATCCTTTGAAGCTC	0.303																																						dbGAP											0													74.0	86.0	82.0					12																	16050834		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.657C>A	12.37:g.16050834C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S232	ENST00000419869.2	37	c.696	CCDS8676.1	12																																																																																			STRAP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000023734		0.303	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRAP	HGNC	protein_coding	OTTHUMT00000401114.1	36	0.00	0	C	NM_007178		16050834	16050834	+1	no_errors	ENST00000025399	ensembl	human	known	69_37n	silent	26	46.94	23	SNP	0.380	A
STRAP	11171	genome.wustl.edu	37	12	16050834	16050834	+	Silent	SNP	C	C	A			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr12:16050834C>A	ENST00000419869.2	+	7	970	c.657C>A	c.(655-657)tcC>tcA	p.S219S	STRAP_ENST00000538352.1_Silent_p.S125S|STRAP_ENST00000025399.6_Silent_p.S232S	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	219					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CAATTAAATCCTTTGAAGCTC	0.303																																						dbGAP											0													74.0	86.0	82.0					12																	16050834		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.657C>A	12.37:g.16050834C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S232	ENST00000419869.2	37	c.696	CCDS8676.1	12																																																																																			STRAP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000023734		0.303	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRAP	HGNC	protein_coding	OTTHUMT00000401114.1	36	0.00	0	C	NM_007178		16050834	16050834	+1	no_errors	ENST00000025399	ensembl	human	known	69_37n	silent	70	46.56	61	SNP	0.380	A
RHBDL1	9028	genome.wustl.edu	37	16	730615	730615	+	IGR	DEL	G	G	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr16:730615delG	ENST00000219551.2	+	0	1560				LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000564370.1_5'Flank|STUB1_ENST00000219548.4_Frame_Shift_Del_p.K30fs|LA16c-313D11.9_ENST00000567091.1_RNA|STUB1_ENST00000565677.1_5'UTR			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)						signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				AGGAGCTCAAGGAGCAGGGCA	0.746																																						dbGAP											0													13.0	16.0	15.0					16																	730615		2137	4244	6381	-	-	-	SO:0001628	intergenic_variant	0			Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141		16.37:g.730615delG		Somatic		WXS	Illumina GAIIx	Phase_IV	A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Frame_Shift_Del	DEL	pfam_Ubox_domain,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E31fs	ENST00000219551.2	37	c.90	CCDS10418.1	16																																																																																			STUB1	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000103266		0.746	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	STUB1	HGNC	protein_coding	OTTHUMT00000241619.1	8	0.00	0	G	NM_003961		730615	730615	+1	no_errors	ENST00000219548	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000	-
TECPR2	9895	genome.wustl.edu	37	14	102881035	102881035	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr14:102881035delC	ENST00000359520.7	+	5	769	c.543delC	c.(541-543)agcfs	p.S181fs	TECPR2_ENST00000558678.1_Frame_Shift_Del_p.S181fs|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	181					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TGGATTATAGCCAGAAAGTGC	0.483																																						dbGAP											0													158.0	144.0	149.0					14																	102881035		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.543delC	14.37:g.102881035delC	ENSP00000352510:p.Ser181fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Frame_Shift_Del	DEL	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.Q182fs	ENST00000359520.7	37	c.543	CCDS32162.1	14																																																																																			TECPR2	-	superfamily_WD40_repeat_dom	ENSG00000196663		0.483	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	60	0.00	0	C	NM_014844		102881035	102881035	+1	no_errors	ENST00000359520	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
TP53	7157	genome.wustl.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr17:7577097C>A	ENST00000269305.4	-	8	1030	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.D281Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGCGCCGGTCTCTCCCAGGA	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	GRCh37	CM076566	TP53	M							80.0	69.0	73.0					17																	7577097		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.841G>T	17.37:g.7577097C>A	ENSP00000269305:p.Asp281Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.D281Y	ENST00000269305.4	37	c.841	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892841	0.91889	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	281;281;281;281;281;270;149	ENSP00000352610:D281Y;ENSP00000269305:D281Y;ENSP00000398846:D281Y;ENSP00000391127:D281Y;ENSP00000391478:D281Y;ENSP00000425104:D149Y	ENSP00000269305:D281Y	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	76	0.00	0	C	NM_000546		7577097	7577097	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	4	94.03	63	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr17:7577097C>A	ENST00000269305.4	-	8	1030	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.D281Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGCGCCGGTCTCTCCCAGGA	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	GRCh37	CM076566	TP53	M							80.0	69.0	73.0					17																	7577097		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.841G>T	17.37:g.7577097C>A	ENSP00000269305:p.Asp281Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.D281Y	ENST00000269305.4	37	c.841	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892841	0.91889	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	281;281;281;281;281;270;149	ENSP00000352610:D281Y;ENSP00000269305:D281Y;ENSP00000398846:D281Y;ENSP00000391127:D281Y;ENSP00000391478:D281Y;ENSP00000425104:D149Y	ENSP00000269305:D281Y	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	76	0.00	0	C	NM_000546		7577097	7577097	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	4	87.88	29	SNP	1.000	A
TTC38	55020	genome.wustl.edu	37	22	46668253	46668254	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr22:46668253_46668254insC	ENST00000381031.3	+	3	209_210	c.133_134insC	c.(133-135)aagfs	p.K45fs	TTC38_ENST00000445282.2_Frame_Shift_Ins_p.K45fs	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	45						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GACCAATGACAAGAGTCTCGGT	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	Exception_encountered	22.37:g.46668253_46668254insC	ENSP00000370419:p.Lys45fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WV27|Q9NWP8	Frame_Shift_Ins	INS	NULL	p.K45fs	ENST00000381031.3	37	c.133_134	CCDS43030.1	22																																																																																			TTC38	-	NULL	ENSG00000075234		0.500	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TTC38	HGNC	protein_coding	OTTHUMT00000318469.1	51	0.00	0	-	NM_017931		46668253	46668254	+1	no_errors	ENST00000445282	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.995:0.997	C
TTC7B	145567	genome.wustl.edu	37	14	91007744	91007744	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr14:91007744C>T	ENST00000328459.6	-	20	2621	c.2500G>A	c.(2500-2502)Gtg>Atg	p.V834M	TTC7B_ENST00000357056.2_Missense_Mutation_p.V851M|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	834										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GTGAAGGGCACGGCGGGGCTG	0.701																																						dbGAP											0													20.0	23.0	22.0					14																	91007744		2193	4279	6472	-	-	-	SO:0001583	missense	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2500G>A	14.37:g.91007744C>T	ENSP00000336127:p.Val834Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V851M	ENST00000328459.6	37	c.2551	CCDS32140.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.245998|3.245998	0.59103|0.59103	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555894;ENST00000557292|ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972	.|T;T;T	.|0.64803	.|1.87;1.17;-0.12	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.168434	.|0.38778	.|N	.|0.001563	T|T	0.59569|0.59569	0.2203|0.2203	M|M	0.68317|0.68317	2.08|2.08	0.48452|0.48452	D|D	0.999656|0.999656	.|P;P	.|0.52316	.|0.952;0.882	.|B;B	.|0.34590	.|0.186;0.125	T|T	0.66392|0.66392	-0.5935|-0.5935	5|10	.|0.45353	.|T	.|0.12	-25.7378|-25.7378	19.8929|19.8929	0.96937|0.96937	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|834;851	.|Q86TV6;Q86TV6-2	.|TTC7B_HUMAN;.	H|M	175;261|732;851;834;321	.|ENSP00000349564:V851M;ENSP00000336127:V834M;ENSP00000451440:V321M	.|ENSP00000336127:V834M	R|V	-|-	2|1	0|0	TTC7B|TTC7B	90077497|90077497	0.996000|0.996000	0.38824|0.38824	0.963000|0.963000	0.40424|0.40424	0.845000|0.845000	0.48019|0.48019	3.078000|3.078000	0.50096|0.50096	2.702000|2.702000	0.92279|0.92279	0.462000|0.462000	0.41574|0.41574	CGT|GTG	TTC7B	-	NULL	ENSG00000165914		0.701	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	28	0.00	0	C			91007744	91007744	-1	no_errors	ENST00000357056	ensembl	human	known	69_37n	missense	1	92.31	12	SNP	0.996	T
TYRP1	7306	genome.wustl.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-	rs387906562|rs369807922		TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													dbGAP											2	Deletion - Frameshift(2)	NS(1)|lung(1)	GRCh37	CD085016	TYRP1	D																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.N353fs	ENST00000388918.5	37	c.1054_1057	CCDS34990.1	9																																																																																			TYRP1	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre	ENSG00000107165		0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	56	0.00	0	ACAA	NM_000550		12702411	12702414	+1	no_errors	ENST00000388918	ensembl	human	known	69_37n	frame_shift_del	45	15.09	8	DEL	1.000:1.000:0.997:0.999	-
YAE1D1	57002	genome.wustl.edu	37	7	39612285	39612286	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr7:39612285_39612286insT	ENST00000223273.2	+	3	704_705	c.661_662insT	c.(661-663)caafs	p.Q221fs	YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	221																	AGATGTATTACAACACCTCAAA	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	Exception_encountered	7.37:g.39612285_39612286insT	ENSP00000223273:p.Gln221fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Frame_Shift_Ins	INS	pfam_Essential_protein_Yae1_N	p.Q221fs	ENST00000223273.2	37	c.661_662	CCDS5459.1	7																																																																																			YAE1D1	-	NULL	ENSG00000241127		0.376	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAE1D1	HGNC	protein_coding	OTTHUMT00000250586.1	26	0.00	0	-	NM_020192		39612285	39612286	+1	no_errors	ENST00000223273	ensembl	human	known	69_37n	frame_shift_ins	20	16.67	4	INS	0.976:0.989	T
ZCCHC8	55596	genome.wustl.edu	37	12	122966110	122966110	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2QH-01A-11D-A18P-09	TCGA-AC-A2QH-10A-01D-A18P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e9fb918c-400f-4dbd-b5ec-30f716588172	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr12:122966110G>T	ENST00000336229.4	-	10	1107	c.977C>A	c.(976-978)gCt>gAt	p.A326D	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.A88D|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.A88D	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	326				A -> V (in Ref. 3; AAH65918). {ECO:0000305}.	mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTCCAATTCAGCCTCTTTGAG	0.423																																						dbGAP											0													123.0	121.0	122.0					12																	122966110		1829	4087	5916	-	-	-	SO:0001583	missense	0			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.977C>A	12.37:g.122966110G>T	ENSP00000337313:p.Ala326Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.A326D	ENST00000336229.4	37	c.977		12	.	.	.	.	.	.	.	.	.	.	G	35	5.534578	0.96460	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000544054;ENST00000536663	T;T;T	0.54866	0.55;0.55;0.55	5.47	5.47	0.80525	PSP, proline-rich (2);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	L	0.45422	1.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67444	-0.5669	10	0.52906	T	0.07	-17.2971	19.3314	0.94291	0.0:0.0:1.0:0.0	.	326	Q6NZY4	ZCHC8_HUMAN	D	88;88;326;88;88	ENSP00000441423:A88D;ENSP00000438993:A88D;ENSP00000337313:A326D	ENSP00000337313:A326D	A	-	2	0	ZCCHC8	121532063	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.191000	0.77763	2.573000	0.86826	0.455000	0.32223	GCT	ZCCHC8	-	pfam_PSP,smart_PSP	ENSG00000033030		0.423	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		52	0.00	0	G	NM_017612		122966110	122966110	-1	no_errors	ENST00000336229	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	T
ZNF318	24149	genome.wustl.edu	37	6	43316360	43316361	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr6:43316360_43316361insA	ENST00000361428.2	-	6	2850_2851	c.2773_2774insT	c.(2773-2775)gaafs	p.E925fs	ZNF318_ENST00000318149.3_Frame_Shift_Ins_p.E925fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	925					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCGCAGCATTTCTCCTGAGCAA	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2773_2774insT	6.37:g.43316360_43316361insA	ENSP00000354964:p.Glu925fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Ins	INS	smart_Znf_U1	p.E925fs	ENST00000361428.2	37	c.2774_2773	CCDS4895.2	6																																																																																			ZNF318	-	NULL	ENSG00000171467		0.421	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	59	0.00	0	-	NM_014345		43316360	43316361	-1	no_errors	ENST00000361428	ensembl	human	known	69_37n	frame_shift_ins	55	11.29	7	INS	1.000:1.000	A
ZNF702P	79986	genome.wustl.edu	37	19	53489895	53489896	+	RNA	INS	-	-	G			TCGA-AC-A2QH-01B-04D-A22N-09	TCGA-AC-A2QH-10A-01D-A18P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c738b558-9cc9-4756-bbe6-c8498008d6ad	5ecdd8b2-4577-471e-809e-c7d1f88bffcd	g.chr19:53489895_53489896insG	ENST00000270443.4	-	0	248_249					NR_003578.1		Q9H963	ZN702_HUMAN	zinc finger protein 702, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										gcttcctgctttgttttcttga	0.495																																						dbGAP											0																																										-	-	-			0					19q13.41	2010-08-03	2010-08-03	2008-07-03	ENSG00000242779	ENSG00000242779			25775	pseudogene	pseudogene			"""zinc finger protein 702"", ""zinc finger protein 702 pseudogene"", ""zinc finger protein 702 (pseudogene)"""	ZNF702			Standard	NR_003578		Approved	FLJ12985	uc002qan.4	Q9H963	OTTHUMG00000150515		19.37:g.53489895_53489896insG		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BW1	RNA	INS	-	NULL	ENST00000270443.4	37	NULL		19																																																																																			ZNF702P	-	-	ENSG00000242779		0.495	ZNF702P-001	KNOWN	basic	processed_transcript	ZNF702P	HGNC	pseudogene	OTTHUMT00000318717.1	11	0.00	0	-	NM_024924		53489895	53489896	-1	no_errors	ENST00000270443	ensembl	human	known	69_37n	rna	4	33.33	2	INS	0.456:0.462	G
